chromosome_name	Chromosome/scaffold name	[1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,GL000009.2,GL000194.1,GL000195.1,GL000205.2,GL000213.1,GL000216.2,GL000218.1,GL000219.1,GL000220.1,GL000225.1,HG1_PATCH,HG26_PATCH,HG28_PATCH,HG30_PATCH,HG76_PATCH,HG107_HG2565_PATCH,HG109_PATCH,HG126_PATCH,HG142_HG150_NOVEL_TEST,HG151_NOVEL_TEST,HG152_PATCH,HG287_PATCH,HG401_PATCH,HG405_PATCH,HG410_PATCH,HG439_PATCH,HG545_PATCH,HG699_PATCH,HG705_PATCH,HG708_PATCH,HG721_PATCH,HG926_PATCH,HG986_PATCH,HG1012_PATCH,HG1046_PATCH,HG1047_PATCH,HG1206_PATCH,HG1277_PATCH,HG1298_PATCH,HG1309_PATCH,HG1311_HG2539_PATCH,HG1320_PATCH,HG1342_HG2282_PATCH,HG1343_HG173_HG459_PATCH,HG1362_PATCH,HG1369_PATCH,HG1384_PATCH,HG1395_PATCH,HG1398_PATCH,HG1445_PATCH,HG1485_PATCH,HG1524_PATCH,HG1532_PATCH,HG1535_PATCH,HG1651_PATCH,HG1708_PATCH,HG1815_PATCH,HG1832_PATCH,HG2002_PATCH,HG2021_PATCH,HG2022_PATCH,HG2023_PATCH,HG2030_PATCH,HG2031_PATCH,HG2046_PATCH,HG2047_PATCH,HG2052_PATCH,HG2057_PATCH,HG2058_PATCH,HG2060_PATCH,HG2062_PATCH,HG2063_PATCH,HG2066_PATCH,HG2067_PATCH,HG2069_PATCH,HG2072_PATCH,HG2077_PATCH,HG2087_PATCH,HG2088_PATCH,HG2095_PATCH,HG2104_PATCH,HG2111_PATCH,HG2114_PATCH,HG2115_PATCH,HG2116_PATCH,HG2118_PATCH,HG2121_PATCH,HG2128_PATCH,HG2133_PATCH,HG2140_PATCH,HG2158_PATCH,HG2176_PATCH,HG2191_PATCH,HG2198_PATCH,HG2213_PATCH,HG2217_PATCH,HG2219_PATCH,HG2225_PATCH,HG2231_HG2496_PATCH,HG2232_PATCH,HG2233_PATCH,HG2235_PATCH,HG2236_PATCH,HG2239_PATCH,HG2246_HG2248_HG2276_PATCH,HG2247_PATCH,HG2249_PATCH,HG2251_PATCH,HG2263_PATCH,HG2264_PATCH,HG2265_PATCH,HG2266_PATCH,HG2267_PATCH,HG2275_PATCH,HG2280_PATCH,HG2285_HG106_HG2252_PATCH,HG2288_HG2289_PATCH,HG2290_PATCH,HG2291_PATCH,HG2308_PATCH,HG2334_PATCH,HG2365_PATCH,HG2407_PATCH,HG2408_PATCH,HG2412_PATCH,HG2419_PATCH,HG2442_PATCH,HG2461_PATCH,HG2471_PATCH,HG2476_PATCH,HG2494_PATCH,HG2499_PATCH,HG2509_PATCH,HG2510_PATCH,HG2511_PATCH,HG2512_PATCH,HG2513_PATCH,HG2515_PATCH,HG2521_PATCH,HG2525_PATCH,HG2526_HG2573_PATCH,HG2527_PATCH,HG2541_PATCH,HG2554_PATCH,HG2568_PATCH,HG2569_PATCH,HG2571_PATCH,HG2576_PATCH,HG2577_PATCH,HG2578_PATCH,HG2580_PATCH,HSCHRX_1_CTG3,HSCHRX_1_CTG14,HSCHRX_2_CTG3,HSCHRX_2_CTG12,HSCHRX_2_CTG14,HSCHRX_3_CTG3,HSCHR1_ALT2_1_CTG32_1,HSCHR1_1_CTG3,HSCHR1_1_CTG11,HSCHR1_1_CTG31,HSCHR1_1_CTG32_1,HSCHR1_2_CTG3,HSCHR1_2_CTG31,HSCHR1_2_CTG32_1,HSCHR1_3_CTG3,HSCHR1_3_CTG31,HSCHR1_3_CTG32_1,HSCHR1_4_CTG3,HSCHR1_4_CTG31,HSCHR1_5_CTG3,HSCHR1_5_CTG31,HSCHR1_5_CTG32_1,HSCHR1_6_CTG3,HSCHR1_6_CTG31,HSCHR1_8_CTG3,HSCHR1_9_CTG3,HSCHR1_12_CTG3,HSCHR2_1_CTG1,HSCHR2_1_CTG5,HSCHR2_1_CTG7,HSCHR2_1_CTG7_2,HSCHR2_1_CTG15,HSCHR2_2_CTG1,HSCHR2_2_CTG7,HSCHR2_2_CTG7_2,HSCHR2_2_CTG15,HSCHR2_3_CTG1,HSCHR2_3_CTG7_2,HSCHR2_3_CTG15,HSCHR2_4_CTG1,HSCHR2_6_CTG1,HSCHR2_6_CTG7_2,HSCHR2_7_CTG7_2,HSCHR2_8_CTG7_2,HSCHR2_10_CTG7_2,HSCHR2_11_CTG7_2,HSCHR2_12_CTG7_2,HSCHR3_1_CTG1,HSCHR3_1_CTG2_1,HSCHR3_1_CTG3,HSCHR3_2_CTG2_1,HSCHR3_2_CTG3,HSCHR3_3_CTG1,HSCHR3_3_CTG3,HSCHR3_4_CTG1,HSCHR3_4_CTG2_1,HSCHR3_4_CTG3,HSCHR3_5_CTG1,HSCHR3_5_CTG2_1,HSCHR3_5_CTG3,HSCHR3_6_CTG2_1,HSCHR3_6_CTG3,HSCHR3_7_CTG3,HSCHR3_8_CTG2_1,HSCHR3_8_CTG3,HSCHR3_9_CTG2_1,HSCHR3_9_CTG3,HSCHR4_1_CTG4,HSCHR4_1_CTG6,HSCHR4_1_CTG9,HSCHR4_1_CTG12,HSCHR4_2_CTG8_1,HSCHR4_2_CTG12,HSCHR4_3_CTG12,HSCHR4_4_CTG12,HSCHR4_5_CTG12,HSCHR4_6_CTG12,HSCHR4_7_CTG12,HSCHR4_8_CTG12,HSCHR4_9_CTG12,HSCHR4_11_CTG12,HSCHR4_12_CTG12,HSCHR5_1_CTG1,HSCHR5_1_CTG1_1,HSCHR5_1_CTG5,HSCHR5_2_CTG1,HSCHR5_2_CTG1_1,HSCHR5_2_CTG5,HSCHR5_3_CTG1,HSCHR5_3_CTG5,HSCHR5_4_CTG1,HSCHR5_4_CTG1_1,HSCHR5_5_CTG1,HSCHR5_6_CTG1,HSCHR5_7_CTG1,HSCHR5_8_CTG1,HSCHR5_10_CTG1,HSCHR6_MHC_APD_CTG1,HSCHR6_MHC_COX_CTG1,HSCHR6_MHC_DBB_CTG1,HSCHR6_MHC_MANN_CTG1,HSCHR6_MHC_MCF_CTG1,HSCHR6_MHC_QBL_CTG1,HSCHR6_MHC_SSTO_CTG1,HSCHR6_1_CTG1,HSCHR6_1_CTG2,HSCHR6_1_CTG3,HSCHR6_1_CTG4,HSCHR6_1_CTG5,HSCHR6_1_CTG6,HSCHR6_1_CTG7,HSCHR6_1_CTG8,HSCHR6_1_CTG9,HSCHR6_8_CTG1,HSCHR7_1_CTG1,HSCHR7_1_CTG4_4,HSCHR7_1_CTG6,HSCHR7_1_CTG7,HSCHR7_2_CTG1,HSCHR7_2_CTG4_4,HSCHR7_2_CTG6,HSCHR7_2_CTG7,HSCHR7_3_CTG1,HSCHR7_3_CTG4_4,HSCHR7_3_CTG6,HSCHR7_4_CTG1,HSCHR8_1_CTG1,HSCHR8_1_CTG6,HSCHR8_1_CTG7,HSCHR8_2_CTG1,HSCHR8_2_CTG7,HSCHR8_3_CTG1,HSCHR8_3_CTG7,HSCHR8_4_CTG1,HSCHR8_4_CTG7,HSCHR8_5_CTG1,HSCHR8_5_CTG7,HSCHR8_6_CTG1,HSCHR8_7_CTG1,HSCHR8_7_CTG7,HSCHR8_8_CTG1,HSCHR8_9_CTG1,HSCHR9_1_CTG1,HSCHR9_1_CTG2,HSCHR9_1_CTG3,HSCHR9_1_CTG4,HSCHR9_1_CTG5,HSCHR9_1_CTG6,HSCHR10_1_CTG1,HSCHR10_1_CTG2,HSCHR10_1_CTG3,HSCHR10_1_CTG4,HSCHR11_1_CTG1_2,HSCHR11_1_CTG3_1,HSCHR11_1_CTG5,HSCHR11_1_CTG6,HSCHR11_1_CTG7,HSCHR11_1_CTG8,HSCHR11_2_CTG1,HSCHR11_2_CTG1_1,HSCHR11_2_CTG3_1,HSCHR11_2_CTG8,HSCHR11_3_CTG1,HSCHR12_1_CTG1,HSCHR12_1_CTG2_1,HSCHR12_2_CTG2,HSCHR12_2_CTG2_1,HSCHR12_3_CTG2,HSCHR12_3_CTG2_1,HSCHR12_4_CTG2,HSCHR12_4_CTG2_1,HSCHR12_5_CTG2,HSCHR12_5_CTG2_1,HSCHR12_6_CTG2_1,HSCHR12_9_CTG2_1,HSCHR13_1_CTG1,HSCHR13_1_CTG3,HSCHR13_1_CTG5,HSCHR14_1_CTG1,HSCHR14_2_CTG1,HSCHR14_3_CTG1,HSCHR14_7_CTG1,HSCHR14_8_CTG1,HSCHR15_1_CTG1,HSCHR15_1_CTG3,HSCHR15_1_CTG8,HSCHR15_2_CTG3,HSCHR15_2_CTG8,HSCHR15_3_CTG3,HSCHR15_3_CTG8,HSCHR15_4_CTG8,HSCHR15_5_CTG8,HSCHR15_6_CTG8,HSCHR15_9_CTG8,HSCHR16_CTG2,HSCHR16_1_CTG1,HSCHR16_1_CTG3_1,HSCHR16_2_CTG3_1,HSCHR16_3_CTG1,HSCHR16_4_CTG1,HSCHR16_4_CTG3_1,HSCHR16_5_CTG1,HSCHR16_5_CTG3_1,HSCHR17_1_CTG1,HSCHR17_1_CTG2,HSCHR17_1_CTG4,HSCHR17_1_CTG5,HSCHR17_1_CTG9,HSCHR17_2_CTG1,HSCHR17_2_CTG2,HSCHR17_2_CTG4,HSCHR17_2_CTG5,HSCHR17_3_CTG1,HSCHR17_3_CTG2,HSCHR17_3_CTG4,HSCHR17_4_CTG4,HSCHR17_5_CTG4,HSCHR17_6_CTG4,HSCHR17_7_CTG4,HSCHR17_8_CTG4,HSCHR17_9_CTG4,HSCHR17_10_CTG4,HSCHR17_12_CTG4,HSCHR17_13_CTG4,HSCHR18_ALT2_CTG2_1,HSCHR18_ALT21_CTG2_1,HSCHR18_1_CTG1,HSCHR18_1_CTG1_1,HSCHR18_1_CTG2_1,HSCHR18_2_CTG1_1,HSCHR18_2_CTG2,HSCHR18_2_CTG2_1,HSCHR18_3_CTG2_1,HSCHR18_5_CTG1_1,HSCHR19_1_CTG2,HSCHR19_1_CTG3_1,HSCHR19_2_CTG2,HSCHR19_2_CTG3_1,HSCHR19_3_CTG2,HSCHR19_3_CTG3_1,HSCHR19_4_CTG2,HSCHR19_4_CTG3_1,HSCHR19_5_CTG2,HSCHR19_6_CTG2,HSCHR19KIR_ABC08_AB_HAP_C_P_CTG3_1,HSCHR19KIR_ABC08_AB_HAP_T_P_CTG3_1,HSCHR19KIR_ABC08_A1_HAP_CTG3_1,HSCHR19KIR_CA01-TA01_1_CTG3_1,HSCHR19KIR_CA01-TA01_2_CTG3_1,HSCHR19KIR_CA01-TB01_CTG3_1,HSCHR19KIR_CA01-TB04_CTG3_1,HSCHR19KIR_CA04_CTG3_1,HSCHR19KIR_FH05_A_HAP_CTG3_1,HSCHR19KIR_FH05_B_HAP_CTG3_1,HSCHR19KIR_FH06_A_HAP_CTG3_1,HSCHR19KIR_FH06_BA1_HAP_CTG3_1,HSCHR19KIR_FH08_A_HAP_CTG3_1,HSCHR19KIR_FH08_BAX_HAP_CTG3_1,HSCHR19KIR_FH13_A_HAP_CTG3_1,HSCHR19KIR_FH13_BA2_HAP_CTG3_1,HSCHR19KIR_FH15_A_HAP_CTG3_1,HSCHR19KIR_FH15_B_HAP_CTG3_1,HSCHR19KIR_GRC212_AB_HAP_CTG3_1,HSCHR19KIR_GRC212_BA1_HAP_CTG3_1,HSCHR19KIR_G085_A_HAP_CTG3_1,HSCHR19KIR_G085_BA1_HAP_CTG3_1,HSCHR19KIR_G248_A_HAP_CTG3_1,HSCHR19KIR_G248_BA2_HAP_CTG3_1,HSCHR19KIR_HG2393_CTG3_1,HSCHR19KIR_HG2394_CTG3_1,HSCHR19KIR_HG2396_CTG3_1,HSCHR19KIR_LUCE_A_HAP_CTG3_1,HSCHR19KIR_LUCE_BDEL_HAP_CTG3_1,HSCHR19KIR_RP5_B_HAP_CTG3_1,HSCHR19KIR_RSH_A_HAP_CTG3_1,HSCHR19KIR_RSH_BA2_HAP_CTG3_1,HSCHR19KIR_T7526_A_HAP_CTG3_1,HSCHR19KIR_T7526_BDEL_HAP_CTG3_1,HSCHR19KIR_0010-5217-AB_CTG3_1,HSCHR19KIR_0019-4656-A_CTG3_1,HSCHR19KIR_0019-4656-B_CTG3_1,HSCHR19KIR_7191059-1_CTG3_1,HSCHR19KIR_7191059-2_CTG3_1,HSCHR19KIR_502960008-1_CTG3_1,HSCHR19KIR_502960008-2_CTG3_1,HSCHR19LRC_COX1_CTG3_1,HSCHR19LRC_COX2_CTG3_1,HSCHR19LRC_LRC_I_CTG3_1,HSCHR19LRC_LRC_J_CTG3_1,HSCHR19LRC_LRC_S_CTG3_1,HSCHR19LRC_LRC_T_CTG3_1,HSCHR19LRC_PGF1_CTG3_1,HSCHR19LRC_PGF2_CTG3_1,HSCHR20_1_CTG1,HSCHR20_1_CTG2,HSCHR20_1_CTG3,HSCHR20_1_CTG4,HSCHR21_2_CTG1_1,HSCHR21_3_CTG1_1,HSCHR21_4_CTG1_1,HSCHR21_5_CTG2,HSCHR21_6_CTG1_1,HSCHR21_8_CTG1_1,HSCHR22_1_CTG1,HSCHR22_1_CTG2,HSCHR22_1_CTG3,HSCHR22_1_CTG4,HSCHR22_1_CTG5,HSCHR22_1_CTG6,HSCHR22_1_CTG7,HSCHR22_2_CTG1,HSCHR22_3_CTG1,HSCHR22_4_CTG1,HSCHR22_5_CTG1,HSCHR22_6_CTG1,HSCHR22_7_CTG1,HSCHR22_8_CTG1,KI270442.1,KI270711.1,KI270713.1,KI270721.1,KI270726.1,KI270727.1,KI270728.1,KI270731.1,KI270733.1,KI270734.1,KI270744.1,KI270750.1,MT,X,Y]		filters	text	=	hsapiens_gene_ensembl__gene__main	name_1059
start	Start	[]	Determine which base pair on the specified chromosome/scaffold to begin range	filters	text	>=	hsapiens_gene_ensembl__gene__main	seq_region_end_1020
end	End	[]	Determine which base pair on the specified chromosome/scaffold to end range	filters	text	<=	hsapiens_gene_ensembl__gene__main	seq_region_start_1020
band_start	Band Start	[]		filters	text	=	pointer dataset	band_1027
band_end	Band End	[]		filters	text	=	pointer dataset	band_1027
marker_start	Marker Start	[]		filters	text	=	pointer dataset	name_1033
marker_end	Marker End	[]		filters	text	=	pointer dataset	name_1033
strand	Strand	[]		filters	text	=	hsapiens_gene_ensembl__gene__main	seq_region_strand_1020
chromosomal_region	e.g. 1:100:10000:-1, 1:100000:200000:1	[]	Limit to Genes within multiple comma separate Chromosomal regions (1:100:10000:-1,1:100000:2000000:1)	filters	text	=	hsapiens_gene_ensembl__gene__main,hsapiens_gene_ensembl__gene__main,hsapiens_gene_ensembl__gene__main,hsapiens_gene_ensembl__gene__main	name_1059,seq_region_end_1020,seq_region_start_1020,seq_region_strand_1020
with_biogrid	With BioGRID Interaction data, The General Repository for Interaction Datasets ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_biogrid_bool
with_ccds	With CCDS ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_ccds_bool
with_chembl	With ChEMBL ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_chembl_bool
with_dbass3	With DataBase of Aberrant 3' Splice Sites ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_dbass3_bool
with_dbass5	With DataBase of Aberrant 5' Splice Sites ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_dbass5_bool
with_entrezgene_trans_name	With EntrezGene transcript name ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_entrezgene_trans_name_bool
with_embl	With European Nucleotide Archive ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_embl_bool
with_arrayexpress	With Expression Atlas ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_arrayexpress_bool
with_genecards	With GeneCards ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_genecards_bool
with_go	With GO ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_go_bool
with_goslim_goa	With GOSlim GOA ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_goslim_goa_bool
with_hgnc	With HGNC Symbol ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_hgnc_bool
with_hpa	With Human Protein Atlas ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_hpa_bool
with_protein_id	With INSDC protein ID ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_protein_id_bool
with_ens_lrg_gene	With LRG display in Ensembl gene ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_ens_lrg_gene_bool
with_ens_lrg_transcript	With LRG display in Ensembl transcript ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_ens_lrg_transcript_bool
with_merops	With MEROPS - the Peptidase Database ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_merops_bool
with_mim_gene	With MIM gene ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_mim_gene_bool
with_mim_morbid	With MIM morbid ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_mim_morbid_bool
with_mirbase	With miRBase ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_mirbase_bool
with_mirbase_trans_name	With miRBase transcript name ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_mirbase_trans_name_bool
with_entrezgene	With NCBI gene (formerly Entrezgene) ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_entrezgene_bool
with_pdb	With PDB ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_pdb_bool
with_reactome	With Reactome ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_reactome_bool
with_reactome_gene	With Reactome gene ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_reactome_gene_bool
with_reactome_transcript	With Reactome transcript ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_reactome_transcript_bool
with_refseq_mrna	With RefSeq mRNA ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_refseq_mrna_bool
with_refseq_mrna_predicted	With RefSeq mRNA predicted ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_refseq_mrna_predicted_bool
with_refseq_ncrna	With RefSeq ncRNA ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_refseq_ncrna_bool
with_refseq_ncrna_predicted	With RefSeq ncRNA predicted ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_refseq_ncrna_predicted_bool
with_refseq_peptide	With RefSeq peptide ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_refseq_peptide_bool
with_refseq_peptide_predicted	With RefSeq peptide predicted ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_refseq_peptide_predicted_bool
with_rfam	With RFAM ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_rfam_bool
with_rfam_trans_name	With RFAM transcript name ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_rfam_trans_name_bool
with_rnacentral	With RNAcentral ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_rnacentral_bool
with_hgnc_trans_name	With Transcript name ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_hgnc_trans_name_bool
with_ucsc	With UCSC Stable ID ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	ox_ucsc_bool
with_uniparc	With UniParc ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_uniparc_bool
with_uniprot_gn	With UniProtKB Gene Name ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_uniprot_gn_bool
with_uniprot_isoform	With UniProtKB isoform ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_uniprot_isoform_bool
with_uniprotswissprot	With UniProtKB/Swiss-Prot ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_uniprotswissprot_bool
with_uniprotsptrembl	With UniProtKB/TrEMBL ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	ox_uniprotsptrembl_bool
with_wikigene	With WikiGene ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	ox_wikigene_bool
ensembl_gene_id	Gene stable ID(s) [e.g. ENSG00000000003]	[]	Filter to include genes with supplied list of Gene stable ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__gene__main	stable_id_1023
ensembl_gene_id_version	Gene stable ID(s) with version [e.g. ENSG00000000003.16]	[]	Filter to include genes with supplied list of Gene stable ID(s) with version	filters	id_list	=,in	hsapiens_gene_ensembl__gene__main	gene__main_stable_id_version
ensembl_transcript_id	Transcript stable ID(s) [e.g. ENST00000000233]	[]	Filter to include genes with supplied list of Transcript stable ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__transcript__main	stable_id_1066
ensembl_transcript_id_version	Transcript stable ID(s) with version [e.g. ENST00000000233.10]	[]	Filter to include genes with supplied list of Transcript stable ID(s) with version	filters	id_list	=,in	hsapiens_gene_ensembl__transcript__main	transcript__main_stable_id_version
ensembl_peptide_id	Protein stable ID(s) [e.g. ENSP00000000233]	[]	Filter to include genes with supplied list of Protein stable ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__translation__main	stable_id_1070
ensembl_peptide_id_version	Protein stable ID(s) with version [e.g. ENSP00000000233.5]	[]	Filter to include genes with supplied list of Protein stable ID(s) with version	filters	id_list	=,in	hsapiens_gene_ensembl__translation__main	translation__main_stable_id_version
ensembl_exon_id	Exon ID(s) [e.g. ENSE00000000001]	[]	Filter to include genes with supplied list of Exon ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__exon_transcript__dm	stable_id_1016
external_gene_name	Gene Name(s) [e.g. MT-TF]	[]	Filter to include genes with supplied list of Gene Name(s)	filters	id_list	=,in	hsapiens_gene_ensembl__gene__main	display_label_1074
external_transcript_name	Transcript Name(s) [e.g. MT-TF-201]	[]	Filter to include genes with supplied list of Transcript Name(s)	filters	id_list	=,in	hsapiens_gene_ensembl__transcript__main	display_label_1074_r1
external_synonym	Gene Synonym(s) [e.g. 0808Y08Y]	[]	Filter to include genes with supplied list of Gene Synonym(s)	filters	id_list	=,in	hsapiens_gene_ensembl__external_synonym__dm	external_synonym
biogrid	BioGRID Interaction data, The General Repository for Interaction Datasets ID(s) [e.g. 106523]	[]	Filter to include genes with supplied list of BioGRID Interaction data, The General Repository for Interaction Datasets ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_biogrid__dm	dbprimary_acc_1074
ccds	CCDS ID(s) [e.g. CCDS10]	[]	Filter to include genes with supplied list of CCDS ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_ccds__dm	dbprimary_acc_1074
chembl	ChEMBL ID(s) [e.g. CHEMBL1075092]	[]	Filter to include genes with supplied list of ChEMBL ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_chembl__dm	dbprimary_acc_1074
dbass3_name	DataBase of Aberrant 3' Splice Sites name(s) [e.g. ABCR ]	[]	Filter to include genes with supplied list of DataBase of Aberrant 3' Splice Sites name(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_dbass3__dm	display_label_1074
dbass3_id	DataBase of Aberrant 3' Splice Sites ID(s) [e.g. 1]	[]	Filter to include genes with supplied list of DataBase of Aberrant 3' Splice Sites ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_dbass3__dm	dbprimary_acc_1074
dbass5_name	DataBase of Aberrant 5' Splice Sites name(s) [e.g. BRCA1]	[]	Filter to include genes with supplied list of DataBase of Aberrant 5' Splice Sites name(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_dbass5__dm	display_label_1074
dbass5_id	DataBase of Aberrant 5' Splice Sites ID(s) [e.g. 382]	[]	Filter to include genes with supplied list of DataBase of Aberrant 5' Splice Sites ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_dbass5__dm	dbprimary_acc_1074
entrezgene_trans_name	EntrezGene transcript name ID(s) [e.g. A2MP1-202]	[]	Filter to include genes with supplied list of EntrezGene transcript name ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_entrezgene_trans_name__dm	dbprimary_acc_1074
embl	European Nucleotide Archive ID(s) [e.g. A06800]	[]	Filter to include genes with supplied list of European Nucleotide Archive ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_embl__dm	dbprimary_acc_1074
arrayexpress	Expression Atlas ID(s) [e.g. ENSG00000000003]	[]	Filter to include genes with supplied list of Expression Atlas ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_arrayexpress__dm	dbprimary_acc_1074
genecards	GeneCards ID(s) [e.g. 100]	[]	Filter to include genes with supplied list of GeneCards ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_genecards__dm	dbprimary_acc_1074
go	GO ID(s) [e.g. GO:0000002]	[]	Filter to include genes with supplied list of GO ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_go__dm	dbprimary_acc_1074
goslim_goa	GOSlim GOA ID(s) [e.g. GO:0000228]	[]	Filter to include genes with supplied list of GOSlim GOA ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_goslim_goa__dm	dbprimary_acc_1074
hgnc_id	HGNC ID(s) [e.g. HGNC:100]	[]	Filter to include genes with supplied list of HGNC ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_hgnc__dm	dbprimary_acc_1074
hgnc_symbol	HGNC symbol(s) [e.g. A1BG]	[]	Filter to include genes with supplied list of HGNC symbol(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_hgnc__dm	display_label_1074
hpa_accession	Human Protein Atlas accession(s) [e.g. CAB000001]	[]	Filter to include genes with supplied list of Human Protein Atlas accession(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_hpa__dm	display_label_1074
hpa_id	Human Protein Atlas ID(s) [e.g. 1]	[]	Filter to include genes with supplied list of Human Protein Atlas ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_hpa__dm	dbprimary_acc_1074
protein_id	INSDC protein ID(s) [e.g. AAA02489]	[]	Filter to include genes with supplied list of INSDC protein ID ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_protein_id__dm	dbprimary_acc_1074
ens_lrg_gene	LRG display in Ensembl gene ID(s) [e.g. LRG_1]	[]	Filter to include genes with supplied list of LRG display in Ensembl gene ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_ens_lrg_gene__dm	dbprimary_acc_1074
ens_lrg_transcript	LRG display in Ensembl transcript ID(s) [e.g. LRG_1000t1]	[]	Filter to include genes with supplied list of LRG display in Ensembl transcript ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_ens_lrg_transcript__dm	dbprimary_acc_1074
merops	MEROPS - the Peptidase Database ID(s) [e.g. A01.001]	[]	Filter to include genes with supplied list of MEROPS - the Peptidase Database ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_merops__dm	dbprimary_acc_1074
mim_gene_accession	MIM gene accession(s) [e.g. 100640]	[]	Filter to include genes with supplied list of MIM gene accession(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_mim_gene__dm	dbprimary_acc_1074
mim_morbid_accession	MIM morbid accession(s) [e.g. 100100]	[]	Filter to include genes with supplied list of MIM morbid accession(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_mim_morbid__dm	dbprimary_acc_1074
mirbase_accession	miRBase accession(s) [e.g. MI0000060]	[]	Filter to include genes with supplied list of miRBase accession(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_mirbase__dm	dbprimary_acc_1074
mirbase_id	miRBase ID(s) [e.g. hsa-let-7a-1]	[]	Filter to include genes with supplied list of miRBase ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_mirbase__dm	display_label_1074
mirbase_trans_name	miRBase transcript name ID(s) [e.g. hsa-mir-1253.1-201]	[]	Filter to include genes with supplied list of miRBase transcript name ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_mirbase_trans_name__dm	dbprimary_acc_1074
entrezgene_accession	NCBI gene (formerly Entrezgene) accession(s) [e.g. A1BG]	[]	Filter to include genes with supplied list of NCBI gene (formerly Entrezgene) accession(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_entrezgene__dm	display_label_1074
entrezgene_id	NCBI gene (formerly Entrezgene) ID(s) [e.g. 1]	[]	Filter to include genes with supplied list of NCBI gene (formerly Entrezgene) ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_entrezgene__dm	dbprimary_acc_1074
pdb	PDB ID(s) [e.g. 10GS]	[]	Filter to include genes with supplied list of PDB ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_pdb__dm	dbprimary_acc_1074
reactome	Reactome ID(s) [e.g. R-HSA-1059683]	[]	Filter to include genes with supplied list of Reactome ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_reactome__dm	dbprimary_acc_1074
reactome_gene	Reactome gene ID(s) [e.g. R-HSA-1059683]	[]	Filter to include genes with supplied list of Reactome gene ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_reactome_gene__dm	dbprimary_acc_1074
reactome_transcript	Reactome transcript ID(s) [e.g. R-HSA-1059683]	[]	Filter to include genes with supplied list of Reactome transcript ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_reactome_transcript__dm	dbprimary_acc_1074
refseq_mrna	RefSeq mRNA ID(s) [e.g. NM_000014]	[]	Filter to include genes with supplied list of RefSeq mRNA ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_refseq_mrna__dm	dbprimary_acc_1074
refseq_mrna_predicted	RefSeq mRNA predicted ID(s) [e.g. XM_003403597]	[]	Filter to include genes with supplied list of RefSeq mRNA predicted ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_refseq_mrna_predicted__dm	dbprimary_acc_1074
refseq_ncrna	RefSeq ncRNA ID(s) [e.g. NR_000005]	[]	Filter to include genes with supplied list of RefSeq ncRNA ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_refseq_ncrna__dm	dbprimary_acc_1074
refseq_ncrna_predicted	RefSeq ncRNA predicted ID(s) [e.g. XR_001736914]	[]	Filter to include genes with supplied list of RefSeq ncRNA predicted ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_refseq_ncrna_predicted__dm	dbprimary_acc_1074
refseq_peptide	RefSeq peptide ID(s) [e.g. NP_000005]	[]	Filter to include genes with supplied list of RefSeq peptide ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_refseq_peptide__dm	dbprimary_acc_1074
refseq_peptide_predicted	RefSeq peptide predicted ID(s) [e.g. XP_003403645]	[]	Filter to include genes with supplied list of RefSeq peptide predicted ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_refseq_peptide_predicted__dm	dbprimary_acc_1074
rfam	RFAM ID(s) [e.g. RF00001]	[]	Filter to include genes with supplied list of RFAM ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_rfam__dm	dbprimary_acc_1074
rfam_trans_name	RFAM transcript name ID(s) [e.g. 5S_rRNA.1-201]	[]	Filter to include genes with supplied list of RFAM transcript name ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_rfam_trans_name__dm	dbprimary_acc_1074
rnacentral	RNAcentral ID(s) [e.g. URS0000000055]	[]	Filter to include genes with supplied list of RNAcentral ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_rnacentral__dm	dbprimary_acc_1074
hgnc_trans_name	Transcript name ID(s) [e.g. A1BG-201]	[]	Filter to include genes with supplied list of Transcript name ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_hgnc_trans_name__dm	dbprimary_acc_1074
ucsc	UCSC Stable ID(s) [e.g. uc001aak.4]	[]	Filter to include genes with supplied list of UCSC Stable ID ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_ucsc__dm	dbprimary_acc_1074
uniparc	UniParc ID(s) [e.g. UPI000000003C]	[]	Filter to include genes with supplied list of UniParc ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_uniparc__dm	dbprimary_acc_1074
uniprot_gn_symbol	UniProtKB Gene Name symbol(s) [e.g. 5HT1A]	[]	Filter to include genes with supplied list of UniProtKB Gene Name symbol(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_uniprot_gn__dm	display_label_1074
uniprot_gn_id	UniProtKB Gene Name ID(s) [e.g. A0A023T6R1]	[]	Filter to include genes with supplied list of UniProtKB Gene Name ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_uniprot_gn__dm	dbprimary_acc_1074
uniprot_isoform	UniProtKB isoform ID(s) [e.g. A0A096LP49-1]	[]	Filter to include genes with supplied list of UniProtKB isoform ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_uniprot_isoform__dm	dbprimary_acc_1074
uniprotswissprot	UniProtKB/Swiss-Prot ID(s) [e.g. A0A024R1R8]	[]	Filter to include genes with supplied list of UniProtKB/Swiss-Prot ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_uniprotswissprot__dm	dbprimary_acc_1074
uniprotsptrembl	UniProtKB/TrEMBL ID(s) [e.g. A0A023T6R1]	[]	Filter to include genes with supplied list of UniProtKB/TrEMBL ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_uniprotsptrembl__dm	dbprimary_acc_1074
wikigene_name	WikiGene name(s) [e.g. A1BG]	[]	Filter to include genes with supplied list of WikiGene name(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_wikigene__dm	display_label_1074
wikigene_id	WikiGene ID(s) [e.g. 1]	[]	Filter to include genes with supplied list of WikiGene ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__ox_wikigene__dm	dbprimary_acc_1074
with_affy_hc_g110	With AFFY HC G110 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hc_g110_bool
with_affy_hg_focus	With AFFY HG Focus probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_focus_bool
with_affy_hg_u133a_2	With AFFY HG U133A 2 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_u133a_2_bool
with_affy_hg_u133b	With AFFY HG U133B probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_u133b_bool
with_affy_hg_u133_plus_2	With AFFY HG U133 Plus 2 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_u133_plus_2_bool
with_affy_hg_u95a	With AFFY HG U95A probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_u95a_bool
with_affy_hg_u95av2	With AFFY HG U95Av2 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_u95av2_bool
with_affy_hg_u95b	With AFFY HG U95B probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_u95b_bool
with_affy_hg_u95c	With AFFY HG U95C probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_u95c_bool
with_affy_hg_u95d	With AFFY HG U95D probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_u95d_bool
with_affy_hg_u95e	With AFFY HG U95E probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hg_u95e_bool
with_affy_hta_2_0	With AFFY HTA 2 0 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hta_2_0_bool
with_affy_ht_hg_u133_plus_pm	With AFFY HT HG U133 Plus PM probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_ht_hg_u133_plus_pm_bool
with_affy_huex_1_0_st_v2	With AFFY HuEx 1 0 st v2 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_huex_1_0_st_v2_bool
with_affy_hugenefl	With AFFY HuGeneFL probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hugenefl_bool
with_affy_hugene_1_0_st_v1	With AFFY HuGene 1 0 st v1 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hugene_1_0_st_v1_bool
with_affy_hugene_2_0_st_v1	With AFFY HuGene 2 0 st v1 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hugene_2_0_st_v1_bool
with_affy_hugene_2_1_st_v1	With AFFY HuGene 2 1 st v1 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_hugene_2_1_st_v1_bool
with_affy_primeview	With AFFY PrimeView probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_primeview_bool
with_affy_u133_x3p	With AFFY U133 X3P probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_affy_u133_x3p_bool
with_agilent_cgh_44b	With AGILENT CGH 44b probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_agilent_cgh_44b_bool
with_agilent_gpl19072	With AGILENT GPL19072 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_agilent_gpl19072_bool
with_agilent_gpl26966	With AGILENT GPL26966 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_agilent_gpl26966_bool
with_agilent_gpl6848	With AGILENT GPL6848 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_agilent_gpl6848_bool
with_agilent_sureprint_g3_ge_8x60k	With AGILENT SurePrint G3 GE 8x60k probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_agilent_sureprint_g3_ge_8x60k_bool
with_agilent_sureprint_g3_ge_8x60k_v2	With AGILENT SurePrint G3 GE 8x60k v2 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_agilent_sureprint_g3_ge_8x60k_v2_bool
with_agilent_wholegenome	With AGILENT WholeGenome probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_agilent_wholegenome_bool
with_agilent_wholegenome_4x44k_v1	With AGILENT WholeGenome 4x44k v1 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_agilent_wholegenome_4x44k_v1_bool
with_agilent_wholegenome_4x44k_v2	With AGILENT WholeGenome 4x44k v2 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_agilent_wholegenome_4x44k_v2_bool
with_codelink_codelink	With CODELINK CODELINK probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_codelink_codelink_bool
with_illumina_humanref_8_v3	With ILLUMINA HumanRef 8 V3 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_illumina_humanref_8_v3_bool
with_illumina_humanwg_6_v3	With ILLUMINA HumanWG 6 V3 probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_illumina_humanwg_6_v3_bool
with_phalanx_onearray	With PHALANX OneArray probe ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__transcript__main	efg_phalanx_onearray_bool
affy_hc_g110	AFFY HC G110 probe ID(s) [e.g. 737_at]	[]	Filter to include genes with supplied list of AFFY HC G110 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hc_g110__dm	display_label_11056
affy_hg_focus	AFFY HG Focus probe ID(s) [e.g. 220771_at]	[]	Filter to include genes with supplied list of AFFY HG Focus ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_focus__dm	display_label_11056
affy_hg_u133a_2	AFFY HG U133A 2 probe ID(s) [e.g. 211600_at]	[]	Filter to include genes with supplied list of AFFY HG U133A 2 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_u133a_2__dm	display_label_11056
affy_hg_u133b	AFFY HG U133B probe ID(s) [e.g. 224321_at]	[]	Filter to include genes with supplied list of AFFY HG U133B ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_u133b__dm	display_label_11056
affy_hg_u133_plus_2	AFFY HG U133 Plus 2 probe ID(s) [e.g. 1553551_s_at]	[]	Filter to include genes with supplied list of AFFY HG U133 Plus 2 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_u133_plus_2__dm	display_label_11056
affy_hg_u95a	AFFY HG U95A probe ID(s) [e.g. 737_at]	[]	Filter to include genes with supplied list of AFFY HG U95A ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_u95a__dm	display_label_11056
affy_hg_u95av2	AFFY HG U95Av2 probe ID(s) [e.g. 35896_at]	[]	Filter to include genes with supplied list of AFFY HG U95Av2 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_u95av2__dm	display_label_11056
affy_hg_u95b	AFFY HG U95B probe ID(s) [e.g. 51764_at]	[]	Filter to include genes with supplied list of AFFY HG U95B ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_u95b__dm	display_label_11056
affy_hg_u95c	AFFY HG U95C probe ID(s) [e.g. 51360_at]	[]	Filter to include genes with supplied list of AFFY HG U95C ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_u95c__dm	display_label_11056
affy_hg_u95d	AFFY HG U95D probe ID(s) [e.g. 75749_at]	[]	Filter to include genes with supplied list of AFFY HG U95D ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_u95d__dm	display_label_11056
affy_hg_u95e	AFFY HG U95E probe ID(s) [e.g. 88289_at]	[]	Filter to include genes with supplied list of AFFY HG U95E ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hg_u95e__dm	display_label_11056
affy_hta_2_0	AFFY HTA 2 0 probe ID(s) [e.g. TC07000959.hg]	[]	Filter to include genes with supplied list of AFFY HTA 2 0 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hta_2_0__dm	display_label_11056
affy_ht_hg_u133_plus_pm	AFFY HT HG U133 Plus PM probe ID(s) [e.g. 1553551_PM_s_at]	[]	Filter to include genes with supplied list of AFFY HT HG U133 Plus PM ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_ht_hg_u133_plus_pm__dm	display_label_11056
affy_huex_1_0_st_v2	AFFY HuEx 1 0 st v2 probe ID(s) [e.g. 4037576]	[]	Filter to include genes with supplied list of AFFY HuEx 1 0 st v2 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_huex_1_0_st_v2__dm	display_label_11056
affy_hugenefl	AFFY HuGeneFL probe ID(s) [e.g. Z70759_at]	[]	Filter to include genes with supplied list of AFFY HuGeneFL ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hugenefl__dm	display_label_11056
affy_hugene_1_0_st_v1	AFFY HuGene 1 0 st v1 probe ID(s) [e.g. 8137008]	[]	Filter to include genes with supplied list of AFFY HuGene 1 0 st v1 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hugene_1_0_st_v1__dm	display_label_11056
affy_hugene_2_0_st_v1	AFFY HuGene 2 0 st v1 probe ID(s) [e.g. 17100639]	[]	Filter to include genes with supplied list of AFFY HuGene 2 0 st v1 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hugene_2_0_st_v1__dm	display_label_11056
affy_hugene_2_1_st_v1	AFFY HuGene 2 1 st v1 probe ID(s) [e.g. 17100639]	[]	Filter to include genes with supplied list of AFFY HuGene 2 1 st v1 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_hugene_2_1_st_v1__dm	display_label_11056
affy_primeview	AFFY PrimeView probe ID(s) [e.g. 11761514_at]	[]	Filter to include genes with supplied list of AFFY PrimeView ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_primeview__dm	display_label_11056
affy_u133_x3p	AFFY U133 X3P probe ID(s) [e.g. 1553551_3p_s_at]	[]	Filter to include genes with supplied list of AFFY U133 X3P ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_affy_u133_x3p__dm	display_label_11056
agilent_cgh_44b	AGILENT CGH 44b probe ID(s) [e.g. A_14_P201841]	[]	Filter to include genes with supplied list of AGILENT CGH 44b ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_agilent_cgh_44b__dm	display_label_11056
agilent_gpl19072	AGILENT GPL19072 probe ID(s) [e.g. RNA143570|rRNA_9_954]	[]	Filter to include genes with supplied list of AGILENT GPL19072 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_agilent_gpl19072__dm	display_label_11056
agilent_gpl26966	AGILENT GPL26966 probe ID(s) [e.g. HMNXSV003012672]	[]	Filter to include genes with supplied list of AGILENT GPL26966 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_agilent_gpl26966__dm	display_label_11056
agilent_gpl6848	AGILENT GPL6848 probe ID(s) [e.g. A_24_P179339]	[]	Filter to include genes with supplied list of AGILENT GPL6848 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_agilent_gpl6848__dm	display_label_11056
agilent_sureprint_g3_ge_8x60k	AGILENT SurePrint G3 GE 8x60k probe ID(s) [e.g. A_24_P182122]	[]	Filter to include genes with supplied list of AGILENT SurePrint G3 GE 8x60k ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_agilent_sureprint_g3_ge_8x60k__dm	display_label_11056
agilent_sureprint_g3_ge_8x60k_v2	AGILENT SurePrint G3 GE 8x60k v2 probe ID(s) [e.g. A_24_P182122]	[]	Filter to include genes with supplied list of AGILENT SurePrint G3 GE 8x60k v2 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_agilent_sureprint_g3_ge_8x60k_v2__dm	display_label_11056
agilent_wholegenome	AGILENT WholeGenome probe ID(s) [e.g. A_24_P42453]	[]	Filter to include genes with supplied list of AGILENT WholeGenome ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_agilent_wholegenome__dm	display_label_11056
agilent_wholegenome_4x44k_v1	AGILENT WholeGenome 4x44k v1 probe ID(s) [e.g. A_24_P179339]	[]	Filter to include genes with supplied list of AGILENT WholeGenome 4x44k v1 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_agilent_wholegenome_4x44k_v1__dm	display_label_11056
agilent_wholegenome_4x44k_v2	AGILENT WholeGenome 4x44k v2 probe ID(s) [e.g. A_24_P182122]	[]	Filter to include genes with supplied list of AGILENT WholeGenome 4x44k v2 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_agilent_wholegenome_4x44k_v2__dm	display_label_11056
codelink_codelink	CODELINK CODELINK probe ID(s) [e.g. GE84207]	[]	Filter to include genes with supplied list of CODELINK CODELINK ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_codelink_codelink__dm	display_label_11056
illumina_humanref_8_v3	ILLUMINA HumanRef 8 V3 probe ID(s) [e.g. ILMN_1656196]	[]	Filter to include genes with supplied list of ILLUMINA HumanRef 8 V3 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_illumina_humanref_8_v3__dm	display_label_11056
illumina_humanwg_6_v3	ILLUMINA HumanWG 6 V3 probe ID(s) [e.g. ILMN_1779625]	[]	Filter to include genes with supplied list of ILLUMINA HumanWG 6 V3 ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_illumina_humanwg_6_v3__dm	display_label_11056
phalanx_onearray	PHALANX OneArray probe ID(s) [e.g. PH_hs_0033947]	[]	Filter to include genes with supplied list of PHALANX OneArray ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__efg_phalanx_onearray__dm	display_label_11056
transcript_count_greater_than	Transcript count >=	[]	Limit to genes within given Transcript Count range	filters	text	>=	hsapiens_gene_ensembl__gene__main	transcript_count
transcript_count_less_than	Transcript count <=	[]	Limit to genes within given Transcript Count range	filters	text	<=	hsapiens_gene_ensembl__gene__main	transcript_count
biotype	Type	[artifact,IG_C_gene,IG_C_pseudogene,IG_D_gene,IG_J_gene,IG_J_pseudogene,IG_pseudogene,IG_V_gene,IG_V_pseudogene,lncRNA,miRNA,misc_RNA,Mt_rRNA,Mt_tRNA,processed_pseudogene,protein_coding,pseudogene,ribozyme,rRNA,rRNA_pseudogene,scaRNA,scRNA,snoRNA,snRNA,sRNA,TEC,transcribed_processed_pseudogene,transcribed_unitary_pseudogene,transcribed_unprocessed_pseudogene,translated_processed_pseudogene,TR_C_gene,TR_D_gene,TR_J_gene,TR_J_pseudogene,TR_V_gene,TR_V_pseudogene,unitary_pseudogene,unprocessed_pseudogene,vault_RNA]		filters	list	=	hsapiens_gene_ensembl__gene__main	biotype_1020
transcript_biotype	Transcript Type	[artifact,IG_C_gene,IG_C_pseudogene,IG_D_gene,IG_J_gene,IG_J_pseudogene,IG_pseudogene,IG_V_gene,IG_V_pseudogene,lncRNA,miRNA,misc_RNA,Mt_rRNA,Mt_tRNA,nonsense_mediated_decay,non_stop_decay,processed_pseudogene,processed_transcript,protein_coding,protein_coding_CDS_not_defined,protein_coding_LoF,pseudogene,retained_intron,ribozyme,rRNA,rRNA_pseudogene,scaRNA,scRNA,snoRNA,snRNA,sRNA,TEC,transcribed_processed_pseudogene,transcribed_unitary_pseudogene,transcribed_unprocessed_pseudogene,translated_processed_pseudogene,TR_C_gene,TR_D_gene,TR_J_gene,TR_J_pseudogene,TR_V_gene,TR_V_pseudogene,unitary_pseudogene,unprocessed_pseudogene,vault_RNA]		filters	list	=	hsapiens_gene_ensembl__transcript__main	biotype_1064
source	Source (gene)	[ensembl,ensembl_havana,ensembl_havana_tagene,havana,havana_tagene,insdc,mirbase]		filters	list	=	hsapiens_gene_ensembl__gene__main	source_1020
transcript_source	Source (transcript)	[ensembl,ensembl_havana,ensembl_havana_tagene,ensembl_tagene,havana,havana_tagene,insdc,mirbase]		filters	list	=	hsapiens_gene_ensembl__transcript__main	source_1064
transcript_tsl	Transcript Support Level (TSL)	[only,excluded]		filters	boolean	only,excluded	hsapiens_gene_ensembl__tra_tsl__dm	value_1065
transcript_gencode_basic	GENCODE basic annotation	[only,excluded]		filters	boolean	only,excluded	hsapiens_gene_ensembl__tra_gencode_basic__dm	value_1065
transcript_appris	APPRIS annotation	[only,excluded]		filters	boolean	only,excluded	hsapiens_gene_ensembl__tra_appris__dm	value_1065
transcript_is_canonical	Ensembl Canonical	[only,excluded]		filters	boolean	only,excluded	hsapiens_gene_ensembl__tra_is_canonical__dm	value_1065
mane_select	MANE Select	[only,excluded]		filters	boolean	only,excluded	hsapiens_gene_ensembl__tra_mane_select__dm	value_1065
mane_plus_clinical	MANE Plus clinical	[only,excluded]		filters	boolean	only,excluded	hsapiens_gene_ensembl__tra_mane_plus_clinical__dm	value_1065
phenotype_description	Phenotype description	[12p12.1 microdeletion syndrome,12p12.5 intragenic deletions associated with intellectual disability,12q14 microdeletion syndrome,12q15q21.1 microdeletion syndrome,14q11.2 microduplication syndrome,15q11.2 microdeletion syndrome,15q11q13 microduplication syndrome,15q13.3 deletions phenocopy,15q13.3 microdeletion syndrome,15q14 microdeletion syndrome,15q24 microdeletion syndrome,16q24.3 microdeletion syndrome,17-Beta-Hydroxysteroid Dehydrogenase III Deficiency,17p11.2 microduplication syndrome,17p13.3 microduplication syndrome,17q11 microdeletion syndrome,17q11.2 microduplication syndrome,17q12 microdeletion syndrome,17q21.31 microdeletion syndrome,17q23.1q23.2 microdeletion syndrome,17q24.2 microdeletion syndrome,19p13.3 microduplication syndrome,1p21.3 microdeletion syndrome,1p31p32 microdeletion syndrome,1p36 deletion syndrome,1q44 microdeletion syndrome,2-aminoadipic 2-oxoadipic aciduria,2-Aminoadipic and 2-Oxoadipic Aciduria,2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency,2-methylbutyryl-CoA dehydrogenase deficiency,20p12.3 microdeletion syndrome,21q22.11q22.12 microdeletion syndrome,22q11.2 Deletion Syndrome,22q11.2 duplication syndrome,24-Dienoyl-CoA Reductase Deficiency,2p21 microdeletion syndrome,2p21 microdeletion syndrome without cystinuria,2q23.1 microdeletion syndrome,2q24 microdeletion syndrome,2q32q33 microdeletion syndrome,2q37 microdeletion syndrome,3-hydroxy-3-methylglutaric aciduria,3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY,3-HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE,3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY,3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency,3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY,3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency,3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY,3-M syndrome 1,3-methylcrotonyl CoA carboxylase 2 deficiency,3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY,3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY,3-Methylcrotonyl-CoA Carboxylase Deficiency,3-methylglutaconic aciduria type 1,3-Methylglutaconic aciduria type 3,3-methylglutaconic aciduria type 7,3-methylglutaconic aciduria type 8,3-methylglutaconic aciduria type 9,3-METHYLGLUTACONIC ACIDURIA TYPE I,3-METHYLGLUTACONIC ACIDURIA TYPE III,3-METHYLGLUTACONIC ACIDURIA TYPE IX,3-METHYLGLUTACONIC ACIDURIA TYPE V,3-Methylglutaconic aciduria type VII with cataracts neurologic involvement and neutropenia,3-METHYLGLUTACONIC ACIDURIA TYPE VIIA,3-METHYLGLUTACONIC ACIDURIA TYPE VIIB,3-METHYLGLUTACONIC ACIDURIA TYPE VIII,3-methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome,3-phosphoglycerate dehydrogenase deficiency infantile/juvenile form,3-phosphoserine phosphatase deficiency infantile/juvenile form,3C syndrome,3M syndrome,3M syndrome 2,3MC,3MC syndrome,3MC SYNDROME 1,3MC SYNDROME 2,3MC SYNDROME 3,45X/46XY mixed gonadal dysgenesis,46XX gonadal dysgenesis,46XX ovarian dysgenesis-short stature syndrome,46XX ovotesticular difference of sex development,46XX SEX REVERSAL 1,46XX SEX REVERSAL 4,46XX SEX REVERSAL 5,46XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS ADRENALS AND LUNGS,46XX testicular difference of sex development,46XY complete gonadal dysgenesis,46XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency,46XY difference of sex development due to 5-alpha-reductase 2 deficiency,46XY difference of sex development due to isolated 1720-lyase deficiency,46XY difference of sex development due to testicular 1720-desmolase deficiency,46XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency,46XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY,46XY gonadal dysgenesis-motor and sensory neuropathy syndrome,46XY partial gonadal dysgenesis,46XY SEX REVERSAL 1,46XY sex reversal 11,46XY SEX REVERSAL 2,46XY SEX REVERSAL 3,46XY SEX REVERSAL 5,46XY SEX REVERSAL 6,46XY SEX REVERSAL 7,46XY SEX REVERSAL 8,46XY sex reversal 9,5-Oxoprolinase deficiency,5p13 microduplication syndrome,5q14.3 microdeletion syndrome,5q35 microduplication syndrome,6-pyruvoyl-tetrahydropterin synthase deficiency,6-Pyruvoyltetrahydropterin Synthase Deficiency,6q terminal deletion syndrome,6q16 microdeletion syndrome,6q25 microdeletion syndrome,7q31 microdeletion syndrome,8p11.2 deletion syndrome,8p23.1 microdeletion syndrome,8Q24.3 DELETION-LIKE,8q24.3 microdeletion syndrome,9q33.3q34.11 microdeletion syndrome,AA amyloidosis,AApoAI amyloidosis,AApoAII amyloidosis,Aarskog-Scott syndrome,ABAT-related GABA-transaminase Deficiency,ABCB11-Related Intrahepatic Cholestasis,ABCC9-related Cantu Syndrome,ABCD syndrome,ABDOMINAL OBESITY-METABOLIC SYNDROME 3,ABDOMINAL OBESITY-METABOLIC SYNDROME 4,ABeta amyloidosis Arctic type,ABeta amyloidosis Dutch type,ABeta amyloidosis Iowa type,ABeta amyloidosis Italian type,ABetaA21G amyloidosis,ABetaL34V amyloidosis,ABETALIPOPROTEINEMIA,ABHD16A-associated spastic paraplegia intellectual disability and thin corpus callosum,Ablepharon macrostomia syndrome,ABNORMAL HAIR JOINT LAXITY AND DEVELOPMENTAL DELAY,ABri amyloidosis,Abruzzo-Erickson syndrome,Absence of fingerprints-congenital milia syndrome,Acanthosis nigricans and Crouzon syndrome av,Acanthosis Nigricans and insulin resistance syndrome,Acanthosis Nigricans and insulin resistance syndrome + hypertension,ACATALASEMIA,ACBD5 deficiency,Accelerated tumor formation susceptibility to,ACCES syndrome,ACER3-related leukodystrophy,Aceruloplasminemia,ACERULOPLASMINEMIAHYPOCERULOPLASMINEMIA INCLUDED,Acetazolamide-responsive myotonia,ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY,ACETYL-CoA CARBOXYLASE DEFICIENCY,Acetylation slow,Achalasia-Addisonianism-Alacrima syndrome,Acheiropodia,ACHEIROPODY,Achondrogenesis type 1A,Achondrogenesis type 1B,Achondrogenesis type 2,ACHONDROGENESIS TYPE IA,ACHONDROGENESIS TYPE IB,ACHONDROGENESIS TYPE II,Achondroplasia,ACHONDROPLASIA SEVERE WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS,Achromatopsia,ACHROMATOPSIA 2,Achromatopsia 3,Achromatopsia 3 biallelic activating,Achromatopsia 4,ACHROMATOPSIA 7,ACID PHOSPHATASE DEFICIENCY,Acid-labile subunit deficiency,ACNE INVERSA FAMILIAL 1,ACNE INVERSA FAMILIAL 2 WITH OR WITHOUT DOWLING-DEGOS DISEASE,Acquired idiopathic sideroblastic anemia,Acquired partial lipodystrophy,Acquired schizencephaly,Acral peeling skin syndrome,Acral self-healing collodion baby,Acro-Renal-Ocular syndrome,Acrocallosal syndrome,Acrocapitofemoral dysplasia,acrocephalopolysyndactyly type 2,ACROCEPHALOSYNDACTYLY TYPE V,Acrodermatitis continua of Hallopeau,Acrodermatitis enteropathica,ACRODERMATITIS ENTEROPATHICA ZINC-DEFICIENCY TYPE,Acrodysostosis,ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE,ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE,ACROFACIAL DYSOSTOSIS 1 NAGER TYPE,Acrofacial dysostosis Cincinnati type,Acrofacial dysostosis Rodriguez type,Acrofacial dysostosis Weyers type,Acrogeria,Acrokeratosis verruciformis,Acrokeratosis verruciformis of Hopf,Acromegaly,Acromelic frontonasal dysostosis,Acromelic frontonasal dysplasia,ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE,ACROMESOMELIC DYSPLASIA 1,ACROMESOMELIC DYSPLASIA 2A,ACROMESOMELIC DYSPLASIA 2B,ACROMESOMELIC DYSPLASIA 2C,ACROMESOMELIC DYSPLASIA 3,ACROMESOMELIC DYSPLASIA 4,Acromesomelic dysplasia Grebe type,ACROMESOMELIC DYSPLASIA HUNTER-THOMPSON TYPE,Acromesomelic dysplasia Maroteaux type,ACROMICRIC DYSPLASIA,Acroosteolysis-keloid-like lesions-premature aging syndrome,ACTB Haploinsufficiency syndtome,ACTC1-related HCM,ACTH deficiency isolated,ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA,ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2,Actinic keratosis,Action myoclonus-renal failure syndrome,Activated PI3K-delta syndrome,Actn3 deficiency,Acute basophilic leukemia,Acute encephalopathy with biphasic seizures and late reduced diffusion,Acute fatty liver of pregnancy,Acute Febrile Encephalopathy,Acute Hepatic Porphyria,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,Acute infantile liver failure-multisystemic involvement syndrome,Acute inflammatory demyelinating polyradiculoneuropathy,Acute intermittent porphyria,ACUTE LIVER FAILURE ALF IN INFANCY AND CHILDHOOD; SHORT STATURE OPTIC NERVE ATROPHY AND PELGER-HUET ANOMALY,Acute lymphoblastic leukemia,Acute mast cell leukemia,Acute megakaryoblastic leukemia in Down syndrome,Acute megakaryoblastic leukemia without Down syndrome,Acute myeloblastic leukemia with maturation,Acute myeloblastic leukemia without maturation,Acute myeloid leukaemia with myelodysplasia-related features,Acute myeloid leukemia,Acute myeloid leukemia with 11q23 abnormalities,Acute myeloid leukemia with abnormal bone marrow eosinophils inv16p13q22 or t16,Acute myeloid leukemia with CEBPA somatic mutations,Acute myeloid leukemia with inv3q21q26.2 or t3,Acute myeloid leukemia with minimal differentiation,Acute myeloid leukemia with NPM1 somatic mutations,Acute myeloid leukemia with t6,Acute myeloid leukemia with t8,Acute myeloid leukemia with t9,ACUTE NECROTIZING ENCEPHALOPATHY 1 SUSCEPTIBILITY TO,Acute necrotizing encephalopathy of childhood,Acute neonatal citrullinemia type I,ACUTE PROMYELOCYTIC LEUKEMIA,Acute undifferentiated leukemia,Acyl-CoA dehydrogenase 9 deficiency,acyl-CoA dehydrogenase family member type 9 deficiency,ACYL-CoA DEHYDROGENASE MEDIUM-CHAIN DEFICIENCY OF,ACYL-CoA DEHYDROGENASE SHORT-CHAIN DEFICIENCY OF,ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF,ACys amyloidosis,ADAM22-associated developmental and epileptic encephalopathy,Adams Oliver syndrome,Adams-Oliver syndrome,ADAMS-OLIVER SYNDROME 1,Adams-Oliver syndrome 2,ADAMS-OLIVER SYNDROME 3,ADAMS-OLIVER SYNDROME 4,Adams-Oliver syndrome 5,ADAMS-OLIVER SYNDROME 6,ADan amyloidosis,ADARB1-associated Microcephaly Intellectual Disability and Seizures,ADCY5-related developmental disorder monoallelic,Adenine phosphoribosyltransferase deficiency,Adenocarcinoma of ovary,Adenoid cystic carcinoma,ADENOMAS MULTIPLE COLORECTAL,ADENOMATOUS POLYPOSIS AND CRC,ADENOMATOUS POLYPOSIS COLI,Adenosine Deaminase Deficiency,ADENOSINE DEAMINASE ELEVATED HEMOLYTIC ANEMIA DUE TO,Adenosine monophosphate deaminase deficiency,Adenosine triphosphate elevated of erythrocytes,Adenosquamous Carcinoma,adenosquamous lung carcinoma,ADENYLATE KINASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO,Adenylosuccinase deficiency,Adenylosuccinate lyase deficiency,Adenylosuccinate synthetase-like 1-related distal myopathy,Adermatoglyphia,Adiponectin deficiency,ADNP syndrome,ADRENAL CORTICAL CARCINOMA,adrenal gland pheochromocytoma,ADRENAL HYPERPLASIA CONGENITAL DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY,ADRENAL HYPERPLASIA CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY,ADRENAL HYPERPLASIA CONGENITAL DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY,ADRENAL HYPERPLASIA CONGENITAL DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY,ADRENAL HYPOPLASIA CONGENITAL,ADRENAL INSUFFICIENCY CONGENITAL WITH 46XY SEX REVERSAL PARTIAL OR COMPLETE,adrenocortical adenoma,Adrenocortical carcinoma,ADRENOCORTICAL CARCINOMA HEREDITARY,Adrenoleukodystrophy,ADRENOLEUKODYSTROPHY PSEUDONEONATAL,Adrenoleukodystrophy X-Linked,Adrenomyeloneuropathy,Adult hepatocellular carcinoma,Adult hypophosphatasia,Adult Krabbe disease,Adult polyglucosan body disease,Adult syndrome,Adult-onset autosomal dominant leukodystrophy,Adult-onset autosomal recessive cerebellar ataxia,Adult-onset autosomal recessive sideroblastic anemia,Adult-onset cervical dystonia DYT23 type,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,Adult-onset distal myopathy due to VCP mutation,Adult-onset dystonia-parkinsonism,Adult-onset foveomacular vitelliform dystrophy,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,Adult-onset myasthenia gravis,Adult-onset Steinert myotonic dystrophy,ADVANCE SLEEP PHASE SYNDROME FAMILIAL 4,ADVANCED SLEEP PHASE SYNDROME FAMILIAL 2,ADVANCED SLEEP PHASE SYNDROME FAMILIAL 3,AFG3L2-related ataxia and seizures,AFib amyloidosis,AFIBRINOGENEMIA CONGENITAL HYPOFIBRINOGENEMIA CONGENITAL INCLUDED,AGAMMAGLOBULINEMIA 10 AUTOSOMAL DOMINANT,AGAMMAGLOBULINEMIA 2 AUTOSOMAL RECESSIVE,AGAMMAGLOBULINEMIA 3 AUTOSOMAL RECESSIVE,AGAMMAGLOBULINEMIA 4 AUTOSOMAL RECESSIVE,AGAMMAGLOBULINEMIA 6 AUTOSOMAL RECESSIVE,AGAMMAGLOBULINEMIA 7 AUTOSOMAL RECESSIVE,AGAMMAGLOBULINEMIA 8A AUTOSOMAL DOMINANT,AGAMMAGLOBULINEMIA 8B AUTOSOMAL RECESSIVE,AGAMMAGLOBULINEMIA 9 AUTOSOMAL RECESSIVE,Agammaglobulinemia X-Linked,AGel amyloidosis,AGENESIS OF CORPUS CALLOSUM CARDIAC OCULAR AND GENITAL SYNDROME,Agenesis of corpus callosum retinopathy and deafness,AGENESIS OF THE CORPUS CALLOSUM,AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA,AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY,Aggressive systemic mastocytosis,Agnathia-holoprosencephaly-situs inversus syndrome,Agnathia-otocephaly complex,AGNATHIA-OTOCEPHALY COMPLEX biallelic,AGNATHIA-OTOCEPHALY COMPLEX monoallelic,AGO1-related developmental disorder monoallelic,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,AICA-ribosiduria,AICA-RIBOSURIA,AICA-RIBOSURIA DUE TO ATIC DEFICIENCY,Aicardi Goutieres syndrome,Aicardi-Goutieres syndrome,AICARDI-GOUTIERES SYNDROME 1,Aicardi-Goutieres syndrome 1 dominant and recessive,AICARDI-GOUTIERES SYNDROME 2,AICARDI-GOUTIERES SYNDROME 3,AICARDI-GOUTIERES SYNDROME 4,AICARDI-GOUTIERES SYNDROME 5,AICARDI-GOUTIERES SYNDROME 6,Aicardi-Goutieres syndrome 7,AICARDI-GOUTIERES SYNDROME 8,AICARDI-GOUTIERES SYNDROME 9,AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE,AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE BIALLELIC,AKT2-related familial partial lipodystrophy,AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy,AL KAISSI SYNDROME,Al-Gazali syndrome,AL-GAZALI-BAKALINOVA SYNDROME,AL-RAQAD SYNDROME,ALACRIMA ACHALASIA AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME,Alacrima achalasia and INTELLECTUAL DEVELOPMENTAL DISORDER syndrome,Alacrimia-choreoathetosis-liver dysfunction syndrome,Alagille Syndrome,Alagille syndrome 1,Alagille syndrome 2,Alagille syndrome due to 20p12 microdeletion,Alagille syndrome due to a JAG1 point mutation,Alagille syndrome due to a NOTCH2 point mutation,ALAND ISLAND EYE DISEASE,Aland Islands eye disease,ALAZAMI SYNDROME,ALAZAMI-YUAN SYNDROME,Albers-Schonberg osteopetrosis,ALBINISM OCULAR TYPE I,Albinism oculo-cutaneous type 2,Albinism oculo-cutaneous type 3,Albinism oculocutaneous type 4,ALBINISM OCULOCUTANEOUS TYPE IA,ALBINISM OCULOCUTANEOUS TYPE IB,ALBINISM OCULOCUTANEOUS TYPE II,ALBINISM OCULOCUTANEOUS TYPE III,ALBINISM OCULOCUTANEOUS TYPE IV,Albinism oculocutaneous type VI,ALBINISM OCULOCUTANEOUS TYPE VII,ALBRIGHT HEREDITARY OSTEODYSTROPHY,Alcohol dependence,ALCOHOL SENSITIVITY ACUTE HANGOVER SUSCEPTIBILITY TO INCLUDED,ALDEHYDE DEHYDROGENASE 2 FAMILY,ALDH18A1-related De Barsy syndrome,ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia,Alexander disease,Alexander disease type I,Alexander disease type II,ALG1-CDG,ALG11-CDG,ALG12-CDG,ALG13-CDG,ALG2-CDG,ALG3-CDG,ALG6-CDG,ALG8-CDG,ALG9-CDG,ALK-positive anaplastic large cell lymphoma,ALK-positive large B-cell lymphoma,Alkaline ceramidase 3 deficiency,Alkaptonuria,ALKBH8-related intellectual disability microcephaly and seizures,ALKURAYA-KUCINSKAS SYNDROME,ALLAN-HERNDON-DUDLEY SYNDROME,ALLANTOICASE,Allergic rhinitis,Alobar holoprosencephaly,Alopecia and T-Cell Immunodeficiency,ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME,Alopecia universalis,ALOPECIA UNIVERSALIS CONGENITA,Alopecia-intellectual disability syndrome,Alopecia-intellectual disability syndrome 1,Alopecia-intellectual disability syndrome 4,Alpers-Huttenlocher syndrome,Alpha delta granule deficiency,Alpha-1 Antitrypsin Deficiency,ALPHA-1-ANTITRYPSIN DEFICIENCY,ALPHA-2-PLASMIN INHIBITOR DEFICIENCY,ALPHA-2C-ADRENERGIC RECEPTOR,ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA,Alpha-B crystallin-related late-onset myopathy,Alpha-dystroglycan-related  limb-girdle muscular dystrophy R16,ALPHA-FETOPROTEIN DEFICIENCY,Alpha-fetoprotein hereditary persistence of,Alpha-mannosidosis adult form,Alpha-mannosidosis infantile form,ALPHA-METHYLACETOACETIC ACIDURIA,ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY,Alpha-N-acetylgalactosaminidase deficiency type 1,Alpha-N-acetylgalactosaminidase deficiency type 2,Alpha-N-acetylgalactosaminidase deficiency type 3,Alpha-sarcoglycan-related  limb-girdle muscular dystrophy R3,ALPHA-THALASSEMIA,Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16,Alpha-thalassemia - myelodysplastic syndrome,ALPHA-THALASSEMIA INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME X-LINKED NON-DELETION TYPE,ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME,Alpha-thalassemia-X-linked intellectual disability syndrome,ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME X-LINKED,ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION SEVERE CYTOMEGALOVIRUS INFECTION AND AUTOIMMUNITY,ALPK3-related HCM,ALPORT SYNDROME 1 X-LINKED,ALPORT SYNDROME 2 AUTOSOMAL RECESSIVE,Alport syndrome 3 autosomal dominant,Alport syndrome autosomal dominant,ALPORT SYNDROME AUTOSOMAL RECESSIVE,Alport syndrome x-linked,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,Als2-Related disorders,Alstrom syndrome,ALTERNATING HEMIPLEGIA OF CHILDHOOD,Alternating hemiplegia of childhood 1,ALTERNATING HEMIPLEGIA OF CHILDHOOD 2,Alveolar capillary dysplasia with misalignment of pulmonary veins,Alveolar rhabdomyosarcoma,ALVEOLAR SOFT PART SARCOMA,Alveolar soft-tissue sarcoma,ALys amyloidosis,ALZAHRANI-KUWAHARA SYNDROME,ALZHEIMER DISEASE 18,Alzheimer disease 2,Alzheimer disease 3,ALZHEIMER DISEASE 4,ALZHEIMER DISEASE 9 SUSCEPTIBILITY TO,ALZHEIMER DISEASE FAMILIAL 1,AMED SYNDROME DIGENIC,AMEGAKARYOCYTIC THROMBOCYTOPENIA CONGENITAL,AMELIA POSTERIOR WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME,Amelocerebrohypohidrotic syndrome,Amelogenesis imperfecta and gingival fibromatosis syndrome,AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA1,AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA2,AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA3,AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA4,AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA5,AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA6,Amelogenesis imperfecta type IA,AMELOGENESIS IMPERFECTA TYPE IB,AMELOGENESIS IMPERFECTA TYPE IC,AMELOGENESIS IMPERFECTA TYPE IE,AMELOGENESIS IMPERFECTA TYPE IF,AMELOGENESIS IMPERFECTA TYPE IG,AMELOGENESIS IMPERFECTA TYPE IH,AMELOGENESIS IMPERFECTA TYPE IIIA,AMELOGENESIS IMPERFECTA TYPE IIIB,AMELOGENESIS IMPERFECTA TYPE IIIC,AMELOGENESIS IMPERFECTA TYPE IJ,AMELOGENESIS IMPERFECTA TYPE IV,AMELOGENESIS IMPERFECTA.,Aminoacylase 1 deficiency,AMISH INFANTILE EPILEPSY SYNDROME,Amish lethal microcephaly,Amish nemaline myopathy,AMOTL1-related orofacial clefting cardiac anomalies and tall stature,Amyelogenesis,Amyloidosis cutis dyschromia,Amyloidosis familial cutaneous pigmentary disorder reticulate with systemic manifestations,Amyloidosis familial cutaneous pigmentary disorder reticulate with systemic manifestations monoallelic loss of function,AMYLOIDOSIS FAMILIAL VISCERAL,AMYLOIDOSIS FINNISH TYPE,AMYLOIDOSIS HEREDITARY TRANSTHYRETIN-RELATED,AMYLOIDOSIS PRIMARY LOCALIZED CUTANEOUS 1,AMYLOIDOSIS PRIMARY LOCALIZED CUTANEOUS 2,AMYLOIDOSIS PRIMARY LOCALIZED CUTANEOUS 3,Amyotrophic lateral sclerosis,AMYOTROPHIC LATERAL SCLEROSIS 1,AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA,AMYOTROPHIC LATERAL SCLEROSIS 11,AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA,AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA,AMYOTROPHIC LATERAL SCLEROSIS 16 JUVENILE,AMYOTROPHIC LATERAL SCLEROSIS 18,Amyotrophic lateral sclerosis 19,AMYOTROPHIC LATERAL SCLEROSIS 2 JUVENILE,Amyotrophic lateral sclerosis 20,AMYOTROPHIC LATERAL SCLEROSIS 21,Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia,AMYOTROPHIC LATERAL SCLEROSIS 23,AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA,Amyotrophic lateral sclerosis 27 juvenile,AMYOTROPHIC LATERAL SCLEROSIS 4 JUVENILE,AMYOTROPHIC LATERAL SCLEROSIS 5 JUVENILE,AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA,AMYOTROPHIC LATERAL SCLEROSIS 8,AMYOTROPHIC LATERAL SCLEROSIS 9,AMYOTROPHIC LATERAL SCLEROSIS SUSCEPTIBILITY TO 24,AMYOTROPHIC LATERAL SCLEROSIS SUSCEPTIBILITY TO 25,Amyotrophic lateral sclerosis type 4,AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1,AMYOTROPHY HEREDITARY NEURALGIC,Analbuminemia,Anaplastic astrocytoma,anaplastic large cell lymphoma,Anaplastic oligoastrocytoma,Anaplastic oligodendroglioma,Anauxetic dysplasia,ANAUXETIC DYSPLASIA 1,ANAUXETIC DYSPLASIA 2,ANAUXETIC DYSPLASIA 3,ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS,Andersen Tawil syndrome,ANDROGEN INSENSITIVITY PARTIAL,ANDROGEN INSENSITIVITY SYNDROME,ANE syndrome,ANEMIA CONGENITAL DYSERYTHROPOIETIC TYPE Ia,ANEMIA CONGENITAL DYSERYTHROPOIETIC TYPE Ib,ANEMIA CONGENITAL DYSERYTHROPOIETIC TYPE II,ANEMIA CONGENITAL DYSERYTHROPOIETIC TYPE IIIa,ANEMIA CONGENITAL DYSERYTHROPOIETIC TYPE IV,ANEMIA DYSERYTHROPOIETIC CONGENITAL TYPE II,ANEMIA DYSERYTHROPOIETIC CONGENITAL TYPE IV,ANEMIA HYPOCHROMIC MICROCYTIC WITH IRON OVERLOAD 1,ANEMIA HYPOCHROMIC MICROCYTIC WITH IRON OVERLOAD 2,Anemia nonspherocytic hemolytic due to g6pd deficiency,ANEMIA SIDEROBLASTIC 1,ANEMIA SIDEROBLASTIC 2 PYRIDOXINE-REFRACTORY,ANEMIA SIDEROBLASTIC 3 PYRIDOXINE-REFRACTORY,ANEMIA SIDEROBLASTIC 4,ANEMIA SIDEROBLASTIC 5,Anemia sideroblastic and spinocerebellar ataxia,ANEMIA SIDEROBLASTIC PYRIDOXINE-REFRACTORY AUTOSOMAL RECESSIVE,Anemia sideroblastic with ataxia,ANEMIA X-LINKED WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES,ANENCEPHALY 1,ANENCEPHALY 2,ANEURYSM INTRACRANIAL BERRY 12,Aneurysm-osteoarthritis syndrome,Angel-shaped phalango-epiphyseal dysplasia,Angelman syndrome,Angelman syndrome due to a point mutation,Angelman syndrome due to imprinting defect in 15q11-q13,Angelman syndrome due to maternal 15q11q13 deletion,Angelman syndrome due to paternal uniparental disomy of chromosome 15,Angiocentric glioma,ANGIOEDEMA HEREDITARY 1,ANGIOEDEMA HEREDITARY 3,Angioedema hereditary 4,ANGIOEDEMA HEREDITARY 5,ANGIOEDEMA HEREDITARY 6,Angioedema hereditary 7,ANGIOEDEMA HEREDITARY 8,ANGIOEDEMA INDUCED BY ACE INHIBITORS SUSCEPTIBILITY TO,Angioneurotic oedema hereditary with normal C1 inhibitor concentration and function,Angiopathy hereditary with nephropathy aneurysms and muscle cramps,angiosarcoma,ANGIOTENSIN I-CONVERTING ENZYME,ANGIOTENSINOGEN,Anhaptoglobinemia,ANHIDROSIS ISOLATED WITH NORMAL SWEAT GLANDS,Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,Aniridia,ANIRIDIA 1,ANIRIDIA 2,ANIRIDIA 3,Aniridia-cerebellar ataxia-intellectual disability syndrome,ANK2-related neurodevelopmental disorder,ANK3-related intellectual disability-sleep disturbance syndrome,ANKRD17-associated neurodevelopmental disorder,Ankyloblepharon filiforme adnatum-cleft palate syndrome,ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE,Annular epidermolytic ichthyosis,ANO1-associated intestinal disease,Anoctamin-5-related  limb-girdle muscular dystrophy R12,Anonychia congenita,Anonychia congenita totalis,Anophthalmia/Microphthalmia,Anophthalmia/microphthalmia-esophageal atresia syndrome,ANOREXIA NERVOSA SUSCEPTIBILITY TO,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,Anterior Segment Dysgenesis,ANTERIOR SEGMENT DYSGENESIS 1,Anterior segment dysgenesis 1 multiple subtypes,ANTERIOR SEGMENT DYSGENESIS 2,ANTERIOR SEGMENT DYSGENESIS 3,ANTERIOR SEGMENT DYSGENESIS 4,ANTERIOR SEGMENT DYSGENESIS 5,ANTERIOR SEGMENT DYSGENESIS 6,ANTERIOR SEGMENT DYSGENESIS 7,Anterior segment dysgenesis 7 with sclerocornea,ANTERIOR SEGMENT DYSGENESIS 8,ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS,Antithrombin III deficiency,Antley-Bixler syndrome,Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,ANXIETYHARM AVOIDANCE INCLUDED,AORTIC ANEURYSM FAMILIAL THORACIC 10,AORTIC ANEURYSM FAMILIAL THORACIC 11 SUSCEPTIBILITY TO,AORTIC ANEURYSM FAMILIAL THORACIC 12,Aortic aneurysm familial thoracic 4,AORTIC ANEURYSM FAMILIAL THORACIC 6,AORTIC ANEURYSM FAMILIAL THORACIC 7,Aortic aneurysm familial thoracic 8,Aortic aneurysm familial thoracic 9,AORTIC VALVE DISEASE 1,AORTIC VALVE DISEASE 2,AORTIC VALVE DISEASE 3,AP1G1-related intellectual disability and epilepsy monoallelic,AP1G1-related intellectual disability biallelic,AP2S1-related developmental disorder monoallelic,APC-related attenuated familial adenomatous polyposis,APERT SYNDROME,Aplasia cutis congenita,APLASIA CUTIS CONGENITA NONSYNDROMIC,APLASIA OF LACRIMAL AND SALIVARY GLANDS,APLASTIC ANEMIA APLASTIC ANEMIA SUSCEPTIBILITY TO INCLUDED,APOCRINE GLAND SECRETION VARIATION IN,APOLIPOPROTEIN A-I DEFICIENCY,APOLIPOPROTEIN A-II,APOLIPOPROTEIN C-II DEFICIENCY,APOLIPOPROTEIN C-III DEFICIENCY,APPARENT MINERALOCORTICOID EXCESS,Appendix Adenocarcinoma,Aquagenic palmoplantar keratoderma,ARBOLEDA-THAM SYNDROME,ARF3-related neurodevelopmental disorder,ARFGEF1-related intellectual disability and epilepsy,ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY,Argininemia,Argininosuccinate Lyase Deficiency,ARGININOSUCCINIC ACIDURIA,ARHGAP35-related developmental disorder monoallelic,ARHGEF9-related developmental disorder X-linked dominant,ARID2-Coffin-Siris like disorder,Arnold-Chiari malformation type I,ARNT2-associated hypopituitarism post-natal microcephaly visual and renal anomalies,AROMATASE DEFICIENCY,AROMATASE EXCESS SYNDROME,AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY,ARPC4-related microcephaly and developmental delay,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 1,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 10,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 11,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 12,Arrhythmogenic right ventricular dysplasia familial 13,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 14,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 5,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 8,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 9,ARTERIAL CALCIFICATION GENERALIZED OF INFANCY 1,Arterial calcification generalized of infancy 2,ARTERIAL TORTUOSITY SYNDROME,ARTERIOVENOUS MALFORMATIONS OF THE BRAIN,Arthrochalasia Ehlers-Danlos syndrome,ARTHROGRYPOSIS CLEFT PALATE CRANIOSYNOSTOSIS AND IMPAIRED INTELLECTUAL DEVELOPMENT,ARTHROGRYPOSIS DISTAL TYPE 1,ARTHROGRYPOSIS DISTAL TYPE 11,ARTHROGRYPOSIS DISTAL TYPE 1A,ARTHROGRYPOSIS DISTAL TYPE 1B,ARTHROGRYPOSIS DISTAL TYPE 1C,ARTHROGRYPOSIS DISTAL TYPE 2A,ARTHROGRYPOSIS DISTAL TYPE 2B1,ARTHROGRYPOSIS DISTAL TYPE 2B2,ARTHROGRYPOSIS DISTAL TYPE 2B3,Arthrogryposis distal type 3,ARTHROGRYPOSIS DISTAL TYPE 5,ARTHROGRYPOSIS DISTAL TYPE 5D,ARTHROGRYPOSIS DISTAL TYPE 7,ARTHROGRYPOSIS DISTAL WITH IMPAIRED PROPRIOCEPTION AND TOUCH,ARTHROGRYPOSIS IMPAIRED INTELLECTUAL DEVELOPMENT AND SEIZURES,Arthrogryposis lethal with anterior horn cell disease,Arthrogryposis multiplex congenita,ARTHROGRYPOSIS MULTIPLEX CONGENITA 1 NEUROGENIC WITH MYELIN DEFECT,ARTHROGRYPOSIS MULTIPLEX CONGENITA 2 NEUROGENIC TYPE,ARTHROGRYPOSIS MULTIPLEX CONGENITA 3 MYOGENIC TYPE,ARTHROGRYPOSIS MULTIPLEX CONGENITA 4 NEUROGENIC WITH AGENESIS OF THE CORPUS CALLOSUM,ARTHROGRYPOSIS MULTIPLEX CONGENITA 5,ARTHROGRYPOSIS MULTIPLEX CONGENITA 6,Arthrogryposis Multiplex Congenita and Intellectual Disability,ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY hemizygous,ARTHROGRYPOSIS PERTHES DISEASE AND UPWARD GAZE PALSY,ARTHROGRYPOSIS RENAL DYSFUNCTION AND CHOLESTASIS 1,Arthrogryposis renal dysfunction and cholestasis 2,Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,Arthrogryposis-anterior horn cell disease syndrome,Arthrogryposis-renal dysfunction-cholestasis syndrome,Arts syndrome,Arylsulfatase A Deficiency,Asparagine synthetase deficiency,ASPARTATE AMINOTRANSFERASE SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS 1,ASPARTYLGLUCOSAMINURIA,ASPERGER,Aspergillosis susceptibility to,ASPHYXIATING THORACIC DYSTROPHY 2,Asphyxiating thoracic dystrophy 5,ASPLENIA ISOLATED CONGENITAL,ASTHMA NASAL POLYPS AND ASPIRIN INTOLERANCE,ASTHMA SUSCEPTIBILITY TO,ASTHMA-RELATED TRAITS SUSCEPTIBILITY TO 1,ASTHMA-RELATED TRAITS SUSCEPTIBILITY TO 2,ASTHMA-RELATED TRAITS SUSCEPTIBILITY TO 5,ASTHMA-RELATED TRAITS SUSCEPTIBILITY TO 7,Astrocytoma,ATAD3A disorder -  global developmental delay hypotonia optic atrophy axonal neuropathy and hypertrophic cardiomyopathy,Ataxia combined cerebellar and peripheral with hearing loss and diabetes mellitus,Ataxia dysmetria contractures and scoliosis with normal cognition but loss of discriminative touch perception,ATAXIA EARLY-ONSET WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA,ATAXIA INTENTION TREMOR AND HYPOTONIA SYNDROME CHILDHOOD-ONSET,Ataxia posterior column with retinitis pigmentosa,ATAXIA SENSORY 1 AUTOSOMAL DOMINANT,ATAXIA TELANGIECTASIA-LIKE DISORDER,Ataxia with Oculomotor Apraxia 1,Ataxia with vitamin E deficiency,Ataxia-hypogonadism-choroidal dystrophy syndrome,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,Ataxia-oculomotor apraxia 3,ATAXIA-OCULOMOTOR APRAXIA 4,Ataxia-oculomotor apraxia type 1,Ataxia-oculomotor apraxia type 4,Ataxia-Pancytopenia Syndrome,ATAXIA-TELANGIECTASIA,ATAXIA-TELANGIECTASIA VARIANT,Ataxia-telangiectasia-like disorder,ATAXIA-TELANGIECTASIA-LIKE DISORDER 1,Ataxia-telangiectasia-like disorder 2,Atelis syndrome 1,Atelis syndrome 2,Atelosteogenesis type 1,Atelosteogenesis type 3,Atelosteogenesis type I,Atelosteogenesis type II,Atelosteogenesis type III,ATG4D-related neurodevelopmental disorder,ATG7-related intellectual disability and ataxia,Athabaskan brainstem dysgenesis syndrome,ATHELIA,Athyreosis,ATL1-associated hereditary spastic paraplegia,ATP13A2-related juvenile neuronal ceroid lipofuscinosis,ATP1A2-related epileptic encephalopathy,ATP2B1-related neurodevelopmental disorder,ATP5F1A-related failure to thrive hyperlactatemia and hyperammonemia,ATP5F1A-related mitochondrial encephalopathy,ATP5F1D metabolic disorder,ATP6V0A1-related developmental disorder monoallelic,ATP6V0C-related Developmental Disorder,ATP8B1-Related Intrahepatic Cholestasis,ATP9A-related neurodevelopmental disorder,Atransferrinemia,ATRIAL FIBRILLATION FAMILIAL 10,ATRIAL FIBRILLATION FAMILIAL 11,ATRIAL FIBRILLATION FAMILIAL 12,Atrial fibrillation familial 13,Atrial fibrillation familial 14,Atrial fibrillation familial 15,ATRIAL FIBRILLATION FAMILIAL 18,ATRIAL FIBRILLATION FAMILIAL 3,ATRIAL FIBRILLATION FAMILIAL 4,ATRIAL FIBRILLATION FAMILIAL 6,ATRIAL FIBRILLATION FAMILIAL 7,ATRIAL FIBRILLATION FAMILIAL 9,ATRIAL SEPTAL DEFECT 2,ATRIAL SEPTAL DEFECT 3,ATRIAL SEPTAL DEFECT 4,ATRIAL SEPTAL DEFECT 5,ATRIAL SEPTAL DEFECT 6,Atrial septal defect 7 with or without atrioventricular conduction defects,ATRIAL SEPTAL DEFECT 8,Atrial septal defect 9,Atrial septal defect ostium primum type,Atrial septal defect ostium secundum type,Atrial septal defect sinus venosus type,ATRIAL SEPTAL DEFECT TYPE 2,ATRIAL SEPTAL DEFECT TYPE 3,ATRIAL SEPTAL DEFECT TYPE 4,ATRIAL SEPTAL DEFECT TYPE 6,ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS,Atrial septal defect-atrioventricular conduction defects syndrome,Atrial standstill,ATRIAL STANDSTILL 1,ATRIAL STANDSTILL 2,ATRICHIA WITH PAPULAR LESIONS,ATRIOVENTRICULAR SEPTAL DEFECT 4,Atrioventricular septal defect 5,ATRIOVENTRICULAR SEPTAL DEFECT SUSCEPTIBILITY TO 2,Atrophoderma vermiculata,Atrophy,ATTENTION DEFICIT-HYPERACTIVITY DISORDER,ATTENTION DEFICIT-HYPERACTIVITY DISORDER 8,ATTENTION DEFICIT-HYPERACTIVITY DISORDER SUSCEPTIBILITY TO 7,Attenuated Chediak-Higashi syndrome,ATTRV122I amyloidosis,ATTRV30M amyloidosis,Atypical chronic myeloid leukemia,Atypical dentin dysplasia due to SMOC2 deficiency,Atypical dominant Fanconi syndrome with MODY,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,Atypical Gaucher disease due to saposin C deficiency,Atypical glycine encephalopathy,Atypical hemolytic uremic syndrome with complement gene abnormality,Atypical hemolytic-uremic syndrome with anti-factor H antibodies,Atypical hypotonia - cystinuria syndrome,Atypical juvenile parkinsonism,atypical Krabbe disease,Atypical Noonan syndrome,Atypical pantothenate kinase associated neurodegeneration,Atypical Rett syndrome,Atypical teratoid rhabdoid tumor,Atypical Timothy syndrome,Atypical Usher syndrome,Atypical Werner syndrome,Au-Kline syndrome,AUDITORY NEUROPATHY AND OPTIC ATROPHY,AUDITORY NEUROPATHY AUTOSOMAL DOMINANT 1,AUDITORY NEUROPATHY AUTOSOMAL DOMINANT 3,Auditory neuropathy-optic atrophy syndrome,Aural atresia congenital,Auriculocondylar syndrome,AURICULOCONDYLAR SYNDROME 1,AURICULOCONDYLAR SYNDROME 2,Auriculocondylar syndrome 3,Autism,Autism and Syndromic Intellectual Disability,Autism intellectual disability basal ganglia dysfunction and epilepsy,Autism spectrum disorder due to AUTS2 deficiency,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,Autism Spectrum Disorders,AUTISM SUSCEPTIBILITY TO 15,AUTISM SUSCEPTIBILITY TO 16,AUTISM SUSCEPTIBILITY TO 17,AUTISM SUSCEPTIBILITY TO 19,AUTISM SUSCEPTIBILITY TO 20,AUTISM SUSCEPTIBILITY TO X-LINKED 1,AUTISM SUSCEPTIBILITY TO X-LINKED 2,AUTISM SUSCEPTIBILITY TO X-LINKED 3,AUTISM SUSCEPTIBILITY TO X-LINKED 4,AUTISM SUSCEPTIBILITY TO X-LINKED 5,AUTISM SUSCEPTIBILITY TO X-LINKED 6,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,Autism/ID,AUTOIMMUNE DISEASE MULTISYSTEM INFANTILE-ONSET 1,AUTOIMMUNE DISEASE MULTISYSTEM INFANTILE-ONSET 2,AUTOIMMUNE DISEASE MULTISYSTEM WITH FACIAL DYSMORPHISM,AUTOIMMUNE DISEASE SUSCEPTIBILITY TO 1,AUTOIMMUNE DISEASE SUSCEPTIBILITY TO 6,AUTOIMMUNE DISEASE SYNDROMIC MULTISYSTEM,Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome,Autoimmune interstitial lung disease-arthritis syndrome,AUTOIMMUNE INTERSTITIAL LUNG JOINT AND KIDNEY DISEASE,Autoimmune lymphoproliferative syndrome,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,Autoimmune lymphoproliferative syndrome type IA,Autoimmune lymphoproliferative syndrome type IA biallelic dominant negative,Autoimmune lymphoproliferative syndrome type IA mosaic dominant negative,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IIA,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE III,Autoimmune lymphoproliferative syndrome with recurrent viral infections,AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE I WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA,Autoimmune Polyendocrinopathy Syndrome Type 1,Autoimmune polyendocrinopathy type 1,Autoimmune pulmonary alveolar proteinosis,AUTOIMMUNE THYROID DISEASE SUSCEPTIBILITY TO 3,AUTOINFLAMMATION ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION,Autoinflammation antibody deficiency and immune dysregulation plcg2-associated,AUTOINFLAMMATION IMMUNE DYSREGULATION AND EOSINOPHILIA,Autoinflammation panniculitis and dermatosis syndrome,AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS,AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY,Autoinflammation with infantile enterocolitis,AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,AUTOINFLAMMATORY DISEASE FAMILIAL BEHCET-LIKE 3,AUTOINFLAMMATORY DISEASE SYSTEMIC X-LINKED,AUTOINFLAMMATORY SYNDROME FAMILIAL WITH OR WITHOUT IMMUNODEFICIENCY,AUTOINFLAMMATORY SYNDROME FAMILIAL X-LINKED BEHCET-LIKE 2,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME,Autosomal agammaglobulinemia,Autosomal dominant adult-onset proximal spinal muscular atrophy,Autosomal dominant Alport syndrome,Autosomal dominant aplasia and myelodysplasia,Autosomal dominant brachyolmia,Autosomal dominant centronuclear myopathy,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,Autosomal dominant Charcot-Marie-Tooth disease type 2B,Autosomal dominant Charcot-Marie-Tooth disease type 2C,Autosomal dominant Charcot-Marie-Tooth disease type 2D,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,Autosomal dominant Charcot-Marie-Tooth disease type 2E,Autosomal dominant Charcot-Marie-Tooth disease type 2F,Autosomal dominant Charcot-Marie-Tooth disease type 2I,Autosomal dominant Charcot-Marie-Tooth disease type 2J,Autosomal dominant Charcot-Marie-Tooth disease type 2K,Autosomal dominant Charcot-Marie-Tooth disease type 2L,Autosomal dominant Charcot-Marie-Tooth disease type 2M,Autosomal dominant Charcot-Marie-Tooth disease type 2N,Autosomal dominant Charcot-Marie-Tooth disease type 2O,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,Autosomal dominant Charcot-Marie-Tooth disease type 2U,Autosomal dominant Charcot-Marie-Tooth disease type 2V,Autosomal dominant Charcot-Marie-Tooth disease type 2W,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,Autosomal Dominant Coloboma,Autosomal dominant congenital benign spinal muscular atrophy,Autosomal dominant cutis laxa,Autosomal dominant deafness-onychodystrophy syndrome,Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,Autosomal dominant distal renal tubular acidosis,Autosomal dominant dopa-responsive dystonia,Autosomal dominant Emery-Dreifuss muscular dystrophy,Autosomal dominant epidermolytic ichthyosis,Autosomal dominant epilepsy with auditory features,Autosomal dominant focal dystonia DYT25 type,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,Autosomal dominant generalized dystrophic epidermolysis bullosa,Autosomal dominant generalized epidermolysis bullosa simplex intermediate form,Autosomal dominant generalized epidermolysis bullosa simplex severe form,Autosomal dominant hyper-IgE syndrome,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,Autosomal dominant hyperinsulinism due to SUR1 deficiency,Autosomal dominant hypocalcemia,Autosomal dominant hypohidrotic ectodermal dysplasia,Autosomal dominant hypophosphatemic rickets,Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,Autosomal dominant Kenny-Caffey syndrome,Autosomal dominant keratitis,Autosomal dominant Larsen syndrome,Autosomal dominant limb-girdle muscular dystrophy type 1A,Autosomal dominant macrothrombocytopenia,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Autosomal dominant mitochondrial myopathy with exercise intolerance,Autosomal dominant multiple pterygium syndrome,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,Autosomal dominant neovascular inflammatory vitreoretinopathy,Autosomal dominant nocturnal frontal lobe epilepsy,Autosomal dominant non-syndromic intellectual disability,Autosomal dominant oculodentodigital dysplasia,Autosomal dominant omodysplasia,Autosomal dominant optic atrophy and cataract,Autosomal dominant optic atrophy classic form,Autosomal dominant optic atrophy plus syndrome,Autosomal dominant osteopetrosis type 1,Autosomal dominant otospondylomegaepiphyseal dysplasia,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Autosomal dominant polycystic kidney disease,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,Autosomal dominant popliteal pterygium syndrome,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,Autosomal dominant primary hypomagnesemia with hypocalciuria,Autosomal dominant primary microcephaly,Autosomal dominant progressive external ophthalmoplegia,Autosomal dominant retinal dystrophy,Autosomal dominant rhegmatogenous retinal detachment,Autosomal dominant Robinow syndrome,Autosomal dominant SARS1-related neurodevelopmental disorder,Autosomal dominant secondary polycythemia,Autosomal dominant severe congenital neutropenia,Autosomal dominant slowed nerve conduction velocity,Autosomal dominant spastic ataxia type 1,Autosomal dominant spastic paraplegia type 10,Autosomal dominant spastic paraplegia type 12,Autosomal dominant spastic paraplegia type 13,Autosomal dominant spastic paraplegia type 17,Autosomal dominant spastic paraplegia type 3,Autosomal dominant spastic paraplegia type 31,Autosomal dominant spastic paraplegia type 37,Autosomal dominant spastic paraplegia type 4,Autosomal dominant spastic paraplegia type 42,Autosomal dominant spastic paraplegia type 6,Autosomal dominant spastic paraplegia type 73,Autosomal dominant spastic paraplegia type 8,Autosomal dominant spastic paraplegia type 80,Autosomal dominant spastic paraplegia type 9A,Autosomal dominant spastic paraplegia type 9B,Autosomal dominant spondylocostal dysostosis,Autosomal dominant striatal neurodegeneration,Autosomal dominant thrombocytopenia with platelet secretion defect,Autosomal dominant vitreoretinochoroidopathy,Autosomal erythropoietic protoporphyria,Autosomal recessive Alport syndrome,Autosomal recessive anterior segment dysgenesis,Autosomal recessive ataxia Beauce type,Autosomal recessive ataxia due to PEX10 deficiency,Autosomal recessive ataxia due to PEX16 deficiency,Autosomal recessive ataxia due to PEX2 deficiency,Autosomal recessive ataxia due to ubiquinone deficiency,Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,Autosomal recessive axonal neuropathy with neuromyotonia,Autosomal recessive bestrophinopathy,Autosomal recessive brachyolmia,Autosomal recessive centronuclear myopathy,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,Autosomal recessive cerebellar ataxia with late-onset spasticity,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,Autosomal recessive cerebellar ataxia-movement disorder syndrome,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,Autosomal recessive cerebelloparenchymal disorder type 3,Autosomal recessive cerebral atrophy,Autosomal recessive Charcot Marie Tooth disease type 2X,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,Autosomal recessive chorioretinopathy-microcephaly syndrome,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,Autosomal Recessive Complicated Spastic Paraparesis SPG23,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,Autosomal Recessive Craniosynostosis,Autosomal Recessive Cutis Laxa,Autosomal recessive cutis laxa type 1,Autosomal recessive cutis laxa type 2 classic type,Autosomal recessive cutis laxa type 2B,Autosomal recessive distal renal tubular acidosis,Autosomal recessive dopa-responsive dystonia,Autosomal recessive dyskeratosis congenita 4,Autosomal recessive Emery-Dreifuss muscular dystrophy,Autosomal recessive epidermolytic ichthyosis,Autosomal recessive extra-oral halitosis,Autosomal recessive generalized dystrophic epidermolysis bullosa intermediate form,Autosomal recessive generalized dystrophic epidermolysis bullosa severe form,Autosomal recessive generalized epidermolysis bullosa simplex,Autosomal recessive GRIN2A-related neurodevelopmental disorder,Autosomal recessive hyper-IgE syndrome,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,Autosomal recessive hyperinsulinism due to SUR1 deficiency,Autosomal recessive hypohidrotic ectodermal dysplasia,Autosomal recessive hypophosphatemic rickets,Autosomal recessive infantile hypercalcemia,AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,Autosomal recessive isolated optic atrophy,Autosomal recessive Kenny-Caffey syndrome,Autosomal recessive lower motor neuron disease with childhood onset,Autosomal recessive malignant osteopetrosis,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,Autosomal recessive multiple pterygium syndrome,Autosomal recessive myogenic arthrogryposis multiplex congenita,Autosomal recessive nail dysplasia,Autosomal recessive non-syndromic intellectual disability,AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA,Autosomal recessive omodysplasia,Autosomal recessive optic atrophy OPA7 type,AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA,Autosomal recessive palmoplantar keratoderma and congenital alopecia,Autosomal recessive polycystic kidney disease,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,Autosomal recessive primary microcephaly,Autosomal recessive progressive external ophthalmoplegia,Autosomal recessive proximal renal tubular acidosis,Autosomal recessive Robinow syndrome,Autosomal recessive secondary polycythemia not associated with VHL gene,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,Autosomal recessive sideroblastic anemia,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,Autosomal recessive spastic ataxia with leukoencephalopathy,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,Autosomal recessive spastic paraplegia type 11,Autosomal recessive spastic paraplegia type 15,Autosomal recessive spastic paraplegia type 20,Autosomal recessive spastic paraplegia type 21,Autosomal recessive spastic paraplegia type 23,Autosomal recessive spastic paraplegia type 26,Autosomal recessive spastic paraplegia type 28,Autosomal recessive spastic paraplegia type 35,Autosomal recessive spastic paraplegia type 39,Autosomal recessive spastic paraplegia type 43,Autosomal recessive spastic paraplegia type 44,Autosomal recessive spastic paraplegia type 45,Autosomal recessive spastic paraplegia type 46,Autosomal recessive spastic paraplegia type 48,Autosomal recessive spastic paraplegia type 53,Autosomal recessive spastic paraplegia type 54,Autosomal recessive spastic paraplegia type 55,Autosomal recessive spastic paraplegia type 56,Autosomal recessive spastic paraplegia type 57,Autosomal recessive spastic paraplegia type 59,Autosomal recessive spastic paraplegia type 5A,Autosomal recessive spastic paraplegia type 60,Autosomal recessive spastic paraplegia type 61,Autosomal recessive spastic paraplegia type 62,Autosomal recessive spastic paraplegia type 63,Autosomal recessive spastic paraplegia type 64,Autosomal recessive spastic paraplegia type 66,Autosomal recessive spastic paraplegia type 67,Autosomal recessive spastic paraplegia type 69,Autosomal recessive spastic paraplegia type 70,Autosomal recessive spastic paraplegia type 71,Autosomal recessive spastic paraplegia type 74,Autosomal recessive spastic paraplegia type 75,Autosomal recessive spastic paraplegia type 76,Autosomal recessive spastic paraplegia type 77,Autosomal recessive spastic paraplegia type 78,Autosomal recessive spastic paraplegia type 82,Autosomal recessive spastic paraplegia type 83,Autosomal recessive spastic paraplegia type 84,Autosomal recessive spastic paraplegia type 85,Autosomal recessive spastic paraplegia type 86,Autosomal recessive spastic paraplegia type 87,Autosomal recessive spastic paraplegia type 9B,Autosomal recessive spinocerebellar ataxia 2,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,Autosomal recessive spondylocostal dysostosis,Autosomal recessive spondylometaphyseal dysplasia Megarbane type,Autosomal recessive Stickler syndrome,Autosomal recessive titinopathy with arthrogryposis and/or myopathy,AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY,Autosomal Recessive Wiedemann Rautenstrauch Syndrome,Autosomal semi-dominant severe lipodystrophic laminopathy,Autosomal spastic paraplegia type 18,Autosomal spastic paraplegia type 30,Autosomal spastic paraplegia type 58,Autosomal spastic paraplegia type 72,Autosomal systemic lupus erythematosus,Autosomal thrombocytopenia with normal platelets,Autosomal- Recessive Intellectual Disability MRT5,Autosomal-Dominant Hypotrichosis Simplex,Autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy,Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin syndrome,AUTOSOMAL-DOMINANT ROBINOW SYNDROME,Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia,Autosomal-Recessive Cerebellar Ataxia with Spasticity.,Autosomal-Recessive Complete Congenital Stationary Night Blindness,Autosomal-Recessive cone-Rod dystrophy,Autosomal-Recessive Disorder with Congenital Cataracts Hearing Loss and Low Serum Copper and Ceruloplasmin,Autosomal-Recessive Intellectual Disability and Microcephaly,Autosomal-Recessive microcephaly with chorioretinopathy.,Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction,AVASCULAR NECROSIS OF FEMORAL HEAD PRIMARY 1,AVASCULAR NECROSIS OF FEMORAL HEAD PRIMARY 2,Axenfeld anomaly,Axenfeld-Rieger syndrome,AXENFELD-RIEGER SYNDROME TYPE 1,AXENFELD-RIEGER SYNDROME TYPE 3,Axial Spondylometaphyseal Dysplasia,AXIN2-related attenuated familial adenomatous polyposis,Ayme-Gripp syndrome,AZOOSPERMIA OBSTRUCTIVE WITH NEPHROLITHIASIS,B lymphoblastic leukemia lymphoma with hyperdiploidy,B-cell acute lymphoblastic leukemia,B-cell chronic lymphocytic leukemia,B-CELL CLL/LYMPHOMA 2,B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY,B-cell immunodeficiency distal limb anomalies and urogenital malformations,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,B-cell non-Hodgkins lymphoma,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,B-lymphoblastic leukemia/lymphoma with t1,B-lymphoblastic leukemia/lymphoma with t12;21p13.2;q22.1,B-lymphoblastic leukemia/lymphoma with t17,B-lymphoblastic leukemia/lymphoma with t7;9q11.2;p13.2,B-lymphoblastic leukemia/lymphoma with t9;22q34.1;q11.2,B-lymphoblastic leukemia/lymphoma with tv;11q23.3,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,B4GALT1-CDG,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,BACHMANN-BUPP SYNDROME,BACTEREMIA SUSCEPTIBILITY TO 1,BACTEREMIA SUSCEPTIBILITY TO 2,Bacterial susceptibility due to TLR signaling pathway deficiency,BAG3-related DCM,Bainbridge-Ropers syndrome,Baller-Gerold syndrome,Bamforth-Lazarus syndrome,Band heterotopia,Bannayan-Riley-Ruvalcaba syndrome,BAP1-associated neurodevelopmental syndrome,BAP1-related tumor predisposition syndrome,Baraitser-Winter cerebrofrontofacial syndrome,Baraitser-Winter syndrome,BARAITSER-WINTER SYNDROME 1,Baraitser-Winter Syndrome 2,BARALLE-MACKEN SYNDROME,Baratela Scott Syndrome,Barber-Say syndrome,Bardet-Biedl syndrome,BARDET-BIEDL SYNDROME 1,BARDET-BIEDL SYNDROME 10,BARDET-BIEDL SYNDROME 11,BARDET-BIEDL SYNDROME 12,BARDET-BIEDL SYNDROME 13,Bardet-Biedl syndrome 14,Bardet-Biedl syndrome 15,BARDET-BIEDL SYNDROME 16,BARDET-BIEDL SYNDROME 17,Bardet-Biedl syndrome 18,Bardet-Biedl syndrome 19,BARDET-BIEDL SYNDROME 2,BARDET-BIEDL SYNDROME 20,BARDET-BIEDL SYNDROME 21,BARDET-BIEDL SYNDROME 22,BARDET-BIEDL SYNDROME 3,BARDET-BIEDL SYNDROME 4,BARDET-BIEDL SYNDROME 5,BARDET-BIEDL SYNDROME 6,BARDET-BIEDL SYNDROME 7,BARDET-BIEDL SYNDROME 8,BARDET-BIEDL SYNDROME 9,BARDET-BIEDL SYNDROME TYPE 1,BARDET-BIEDL SYNDROME TYPE 10,BARDET-BIEDL SYNDROME TYPE 11,BARDET-BIEDL SYNDROME TYPE 12,BARDET-BIEDL SYNDROME TYPE 13,BARDET-BIEDL SYNDROME TYPE 15,BARDET-BIEDL SYNDROME TYPE 2,BARDET-BIEDL SYNDROME TYPE 3,BARDET-BIEDL SYNDROME TYPE 4,BARDET-BIEDL SYNDROME TYPE 5,BARDET-BIEDL SYNDROME TYPE 7,BARDET-BIEDL SYNDROME TYPE 8,BARDET-BIEDL SYNDROME TYPE 9,Bare lymphocyte syndrome type 1,BARE LYMPHOCYTE SYNDROME TYPE I,BARE LYMPHOCYTE SYNDROME TYPE II,BARRETT ESOPHAGUS,Barrett's esophagus,BART-PUMPHREY SYNDROME,Barth syndrome,Bartsocas-Papas syndrome,BARTSOCAS-PAPAS SYNDROME 1,BARTSOCAS-PAPAS SYNDROME 2,BARTTER SYNDROME TYPE 1 ANTENATAL,Bartter syndrome type 2,BARTTER SYNDROME TYPE 2 ANTENATAL,Bartter syndrome type 3,Bartter syndrome type 4,BARTTER SYNDROME TYPE 4A,BARTTER SYNDROME TYPE 4A NEONATAL WITH SENSORINEURAL DEAFNESS,BARTTER SYNDROME TYPE 4B,BARTTER SYNDROME TYPE 4B NEONATAL WITH SENSORINEURAL DEAFNESS,Bartter syndrome type 5,Bartter syndrome type 5 antenatal transient,Basal cell carcinoma,BASAL CELL CARCINOMA SUSCEPTIBILITY TO 1,BASAL CELL CARCINOMA SUSCEPTIBILITY TO 7,Basal cell nevus syndrome,BASAL CELL NEVUS SYNDROME 1,Basal cell nevus syndrome 2,BASAL GANGLIA CALCIFICATION IDIOPATHIC 1,BASAL GANGLIA CALCIFICATION IDIOPATHIC 4,BASAL GANGLIA CALCIFICATION IDIOPATHIC 5,BASAL GANGLIA CALCIFICATION IDIOPATHIC 6,BASAL GANGLIA CALCIFICATION IDIOPATHIC 7 AUTOSOMAL RECESSIVE,BASAL GANGLIA CALCIFICATION IDIOPATHIC 8 AUTOSOMAL RECESSIVE,BASAL LAMINAR DRUSEN,Basan syndrome,Basel-Vanagaite-Smirin-Yosef syndrome,BASILICATA-AKHTAR SYNDROME,Bathing suit ichthyosis,BAZ2B-associated neurodevelopmental disorder,Bazex-Dupre-Christol basal cell carcinoma susceptibility syndrome,BBYSS syndrome,BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy,BCL11B-related developmental disorder monoallelic,BDV SYNDROME,Beare-Stevenson Cutis Gyrata syndrome,Beaulieu-Boycott-Innes syndrome,BECK-FAHRNER SYNDROME,BECKER MUSCULAR DYSTROPHY,Becker nevus syndrome,BECKWITH-WIEDEMANN SYNDROME,Beckwith-Wiedemann syndrome due to 11p15 microdeletion,Beckwith-Wiedemann syndrome due to CDKN1C mutation,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,Beckwith-Wiedemann syndrome due to NSD1 mutation,Behavioral variant of frontotemporal dementia,Behcet disease,Behr syndrome,Benign adult familial myoclonic epilepsy,Benign Brain Neoplasm,BENIGN CHRONIC PEMPHIGUS,Benign concentric annular macular dystrophy,Benign familial infantile epilepsy,Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome,Benign familial mesial temporal lobe epilepsy,Benign familial neonatal epilepsy,Benign familial neonatal-infantile seizures,Benign hereditary chorea,benign monoclonal gammopathy,BENIGN NEONATAL EPILEPSY TYPE 1,Benign Ovarian Neoplasm,Benign paroxysmal torticollis of infancy,benign prostatic hyperplasia,Benign recurrent intrahepatic cholestasis type 1,Benign recurrent intrahepatic cholestasis type 2,Benign Samaritan congenital myopathy,BENT BONE DYSPLASIA SYNDROME 1,Bent bone dysplasia syndrome 2,BENTA disease,Bernard Soulier syndrome,BERNARD-SOULIER SYNDROME,BERNARD-SOULIER SYNDROME TYPE A2 AUTOSOMAL DOMINANT,Best vitelliform macular dystrophy,BESTROPHINOPATHY AUTOSOMAL RECESSIVE,Beta thalassemia intermedia,BETA-1-ADRENERGIC RECEPTOR,BETA-2-ADRENERGIC RECEPTOR,BETA-AMINOISOBUTYRIC ACIDURIA,BETA-GLUCOPYRANOSIDE TASTING,Beta-ketothiolase deficiency,BETA-MANNOSIDOSIS,Beta-propeller protein-associated neurodegeneration,Beta-sarcoglycan-related  limb-girdle muscular dystrophy R4,BETA-THALASSEMIA,BETA-THALASSEMIA DOMINANT INCLUSION BODY TYPE,Beta-thalassemia major,Beta-thalassemia-X-linked thrombocytopenia syndrome,BETA-UREIDOPROPIONASE DEFICIENCY,BETHLEM MYOPATHY,Bethlem myopathy 1,BETHLEM MYOPATHY 2,BEUKES HIP DYSPLASIA,BH4-Deficient Hyperphenylalaninemia C,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,BICRA-related Developmental Disorder,Bicuspid Aortic Valve and Aortic Aneurysm,BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY,Bietti crystalline dystrophy,BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES,Bifid uvula,Bifunctional enzyme deficiency,Bilateral diffuse polymicrogyria,Bilateral frontoparietal polymicrogyria,Bilateral generalized polymicrogyria,Bilateral microtia-deafness-cleft palate syndrome,Bilateral multicystic dysplastic kidney,Bilateral parasagittal parieto-occipital polymicrogyria,Bilateral perisylvian polymicrogyria,Bilateral striopallidodentate calcinosis,Bile acid CoA ligase deficiency and defective amidation,BILE ACID CONJUGATION DEFECT 1,BILE ACID MALABSORPTION PRIMARY 1,BILE ACID MALABSORPTION PRIMARY 2,BILE ACID SYNTHESIS DEFECT CONGENITAL 1,BILE ACID SYNTHESIS DEFECT CONGENITAL 2,BILE ACID SYNTHESIS DEFECT CONGENITAL 3,BILE ACID SYNTHESIS DEFECT CONGENITAL 4,BILE ACID SYNTHESIS DEFECT CONGENITAL 5,BILE ACID SYNTHESIS DEFECT CONGENITAL 6,bile duct carcinoma,Biliary atresia with splenic malformation syndrome,Biliary renal neurologic and skeletal syndrome,BILIRUBIN SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS 1,Biotin-thiamine-responsive basal ganglia disease,BIOTINIDASE DEFICIENCY,Biphasic Mesothelioma,Birbeck granule deficiency,Birdshot chorioretinopathy,BIRK-BAREL SYNDROME,Birk-Landau-Perez syndrome,Birt-Hogg-Dube syndrome,Bjornstad syndrome,Bladder Adenocarcinoma,Bladder Cancer,BLADDER DYSFUNCTION AUTONOMIC WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT,Bladder exstrophy,Bladder exstrophy plus,Bladder Inflammatory Myofibroblastic Tumor,Bladder Paraganglioma,Bladder Small Cell Neuroendocrine Carcinoma,Bladder Squamous Cell Carcinoma,bladder transitional cell carcinoma,bladder tumor,Blast Phase Chronic Myelogenous Leukemia BCR-ABL1 Positive,blastoma,BLAU SYNDROME,Bleeding diathesis due to glycoprotein VI deficiency,Bleeding diathesis due to thromboxane synthesis deficiency,Bleeding disorder due to CalDAG-GEFI deficiency,Bleeding disorder due to P2Y12 defect,Bleeding disorder in hemophilia A carriers,Bleeding disorder in hemophilia B carriers,BLEEDING DISORDER PLATELET-TYPE 11,BLEEDING DISORDER PLATELET-TYPE 13 SUSCEPTIBILITY TO,BLEEDING DISORDER PLATELET-TYPE 15,BLEEDING DISORDER PLATELET-TYPE 16,BLEEDING DISORDER PLATELET-TYPE 17,BLEEDING DISORDER PLATELET-TYPE 18,BLEEDING DISORDER PLATELET-TYPE 19,BLEEDING DISORDER PLATELET-TYPE 20,Bleeding disorder platelet-type 21,BLEEDING DISORDER PLATELET-TYPE 22,BLEEDING DISORDER PLATELET-TYPE 24,BLEEDING DISORDER PLATELET-TYPE 8,Blepharo-cheilo-odontic syndrome,Blepharo-cheiro-dontic syndrome,BLEPHAROCHEILODONTIC SYNDROME 1,BLEPHAROCHEILODONTIC SYNDROME 2,Blepharophimosis ptosis and epicanthus inversus,Blepharophimosis ptosis and epicanthus inversus syndrome,BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME,BLEPHAROPHIMOSIS-INTELLECTUAL DEVELOPMENTAL DISORDER,Blepharophimosis-intellectual disability syndrome MKB type,Blepharophimosis-intellectual disability syndrome Ohdo type,Blepharophimosis-intellectual disability syndrome SBBYS type,Blepharophimosis-ptosis-epicanthus inversus syndrome plus,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,BLEPHAROSPASM BENIGN ESSENTIAL SUSCEPTIBILITY TO,BLISTERING ACANTHOLYTIC OF ORAL AND LARYNGEAL MUCOSA,Blomstrand lethal chondrodysplasia,BLOOD GROUP ABO SYSTEM,BLOOD GROUP CHIDO/RODGERS SYSTEM,BLOOD GROUP COLTON SYSTEM,BLOOD GROUP CROMER SYSTEM,Blood group dombrock system,BLOOD GROUP DUFFY SYSTEM,BLOOD GROUP EMM SYSTEM,Blood group ER,Blood group gerbich system,BLOOD GROUP GLOBOSIDE SYSTEM,BLOOD GROUP I SYSTEM,BLOOD GROUP INDIAN SYSTEM,BLOOD GROUP JOHN MILTON HAGEN SYSTEM,BLOOD GROUP JUNIOR SYSTEM,BLOOD GROUP KIDD SYSTEM,BLOOD GROUP LANGEREIS SYSTEM,BLOOD GROUP LEWIS SYSTEM,BLOOD GROUP MN,BLOOD GROUP P1PK SYSTEM P(1) PHENOTYPE INCLUDED,BLOOD GROUP SID SYSTEM,BLOOD GROUP Ss,BLOOD GROUP SYSTEM LANDSTEINER-WIENER,BLOOD GROUP VEL SYSTEM,BLOOD GROUP--DIEGO SYSTEM,BLOOD GROUP--FROESE,BLOOD GROUP--KELL SYSTEM,BLOOD GROUP--LUTHERAN INHIBITOR,BLOOD GROUP--LUTHERAN SYSTEM,BLOOD GROUP--OK,BLOOD GROUP--SCIANNA SYSTEM,BLOOD GROUP--SWANN SYSTEM,BLOOD GROUP--WALDNER TYPE,BLOOD GROUP--WRIGHT ANTIGEN,Bloom syndrome,Bloom Syndrome like Disorder,BLUE CONE MONOCHROMACY,Blue cone monochromatism,Blue rubber bleb nevus,BMP4-associated malformations,BNAR syndrome,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4,BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,BOERJESON-FORSSMAN-LEHMANN SYNDROME,Bohring-Opitz syndrome,BOMBAY PHENOTYPEPARA-BOMBAY PHENOTYPE INCLUDED,Bone fragility with contractures arterial rupture and deafness,bone giant cell tumor,Bone marrow failure and diabetes mellitus syndrome,BONE MARROW FAILURE SYNDROME 1,Bone marrow failure syndrome 2,BONE MARROW FAILURE SYNDROME 3,BONE MARROW FAILURE SYNDROME 4,BONE MARROW FAILURE SYNDROME 5,BONE MARROW FAILURE SYNDROME 6,Bone mineral density quantitative trait locus 1,BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12,Bone mineral density quantitative trait locus 15,BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16,BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17,BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18,BOOMERANG DYSPLASIA,BOR syndrome,Borderline Exocrine Pancreatic Neoplasm,Borderline Ovarian Brenner Tumor,Borderline Ovarian Endometrioid Tumor,Borderline Ovarian Mucinous Tumor,Borderline Ovarian Serous Tumor,Borderline Ovarian Surface Epithelial-Stromal Tumor,BORJESON-FORSSMAN-LEHMANN SYNDROME,Bosch-Boonstra optic atrophy syndrome,Bosch-boonstra-schaaf optic atrophy syndrome,BOSLEY-SALIH-ALORAINY SYNDROME,BOSMA ARHINIA MICROPHTHALMIA SYNDROME,BOTHNIA RETINAL DYSTROPHY,Boucher Neuhauser syndrome,Boudin-Mortier syndrome,BOWEN-CONRADI SYNDROME,BRACHYCEPHALY TRICHOMEGALY AND DEVELOPMENTAL DELAY,Brachydactyly type A1,BRACHYDACTYLY TYPE A1 C,BRACHYDACTYLY TYPE A1 D,Brachydactyly type A2,Brachydactyly type B1,Brachydactyly type B2,Brachydactyly type C,BRACHYDACTYLY TYPE D,BRACHYDACTYLY TYPE E,BRACHYDACTYLY TYPE E1,BRACHYDACTYLY TYPE E2,Brachydactyly-arterial hypertension syndrome,Brachydactyly-elbow wrist dysplasia syndrome,BRACHYDACTYLY-INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME,Brachydactyly-short stature-retinitis pigmentosa syndrome,BRACHYDACTYLY-SYNDACTYLY SYNDROME,Brachydactyly-syndactyly Zhao type,BRACHYOLMIA TYPE 3,BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES,Brachyolmia-amelogenesis imperfecta syndrome,Brachytelephalangic chondrodysplasia punctata,Braddock-Carey syndrome 2,Bradyopsia,BRAIN ABNORMALITIES NEURODEGENERATION AND DYSOSTEOSCLEROSIS,Brain atrophy Dandy Walker and Contractures,Brain calcification Rajab type,Brain dopamine-serotonin vesicular transport disease,brain glioblastoma,BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS,Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome,brain neoplasm,BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES,BRAIN SMALL VESSEL DISEASE 2,BRAIN SMALL VESSEL DISEASE 3,Brain small vessel disease with or without ocular anomalies,Brain Stem Glioblastoma,Brain-lung-thyroid syndrome,Branched-chain keto acid dehydrogenase kinase deficiency,BRANCHIAL ARCH ABNORMALITIES CHOANAL ATRESIA ATHELIA HEARING LOSS AND HYPOTHYROIDISM SYNDROME,BRANCHIOOCULOFACIAL SYNDROME,Branchiootic syndrome,BRANCHIOOTIC SYNDROME 1,BRANCHIOOTIC SYNDROME 3,BRANCHIOOTIC SYNDROME TYPE 3,BRANCHIOOTORENAL SYNDROME 1,BRANCHIOOTORENAL SYNDROME 2,BRANCHIOOTORENAL SYNDROME TYPE 1,branchiootorenal syndrome type 2,Branchioskeletogenital syndrome,BRCA1 related CANCER,BRCA1-related Fanconi anaemia,BRCA2 associated CANCER,BREAST and PANCREAS CANCER Predisposition,Breast Cancer,BREAST CANCER SUSCEPTIBILITY TO,Breast carcinoma,Breast Carcinoma by Gene Expression Profile,Breast Diffuse Large B-Cell Lymphoma,breast ductal adenocarcinoma,breast hyperplasia,breast neoplasm,BREAST-OVARIAN CANCER FAMILIAL SUSCEPTIBILITY TO 1,BREAST-OVARIAN CANCER FAMILIAL SUSCEPTIBILITY TO 2,BREAST-OVARIAN CANCER FAMILIAL SUSCEPTIBILITY TO 3,BREAST-OVARIAN CANCER FAMILIAL SUSCEPTIBILITY TO 4,BREASTS AND/OR NIPPLES APLASIA OR HYPOPLASIA OF 2,BRESEK syndrome,BRF1-related cerebellofaciodental syndrome,Brittle cornea syndrome,BRITTLE CORNEA SYNDROME 1,BRITTLE CORNEA SYNDROME 2,BRODY DISEASE,BRODY MYOPATHY,BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1,BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2,BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3,BROOKE-SPIEGLER SYNDROME,Brown-Vialetto-Van laere syndrome,BROWN-VIALETTO-VAN LAERE SYNDROME 2,BRPF1 associated syndromic intellectual disability with ptosis,Bruck syndrome,Bruck syndrome 1,BRUCK SYNDROME 2,BRUCK SYNDROME TYPE 1,Bruck syndrome type 2,Brugada syndrome,BRUGADA SYNDROME 1,BRUGADA SYNDROME 2,BRUGADA SYNDROME 3,BRUGADA SYNDROME 4,BRUGADA SYNDROME 5,BRUGADA SYNDROME 6,BRUGADA SYNDROME 7,BRUGADA SYNDROME 8,BRUGADA SYNDROME 9,Brunet-Wagner neurodevelopmental syndrome,BRUNNER SYNDROME,Bryant-Li-Bhoj neurodevelopmental syndrome 1,Bryant-Li-Bhoj neurodevelopmental syndrome 2,BUB1-related microcephaly and developmental disorder,BUDD-CHIARI SYNDROME,Bullous diffuse cutaneous mastocytosis,Bullous pemphigoid,BURATTI-HAREL SYNDROME,BURKITT LYMPHOMA,Burkitts lymphoma,BURN-MCKEOWN SYNDROME,BURULI ULCER SUSCEPTIBILITY TO,Buschke-Ollendorff syndrome,Butterfly-shaped pigment dystrophy,BUTYRYLCHOLINESTERASE DEFICIENCY,BVES-related limb-girdle muscular dystrophy,C Syndrome,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,C1q DEFICIENCY 1,C1q deficiency 2,C1q deficiency 3,C3 glomerulonephritis,C3 GLOMERULOPATHY 3,C3HEX ABILITY TO SMELL,CACNA1C-related Timothy syndrome,CACNA1G-related developmental disorder monoallelic,CAD-CDG,CADDS,CADINS disease,CAFFEY DISEASE,CALCIFICATION OF JOINTS AND ARTERIES,Calcifying Nested Epithelial Stromal Tumor of the Liver,Calcinosis tumoral with hyperphosphataemia,CALM1-related CPVT,CALM1-related LQTS,CALM2-related CPVT,CALM2-related LQTS,CALM3-related CPVT,CALM3-related LQTS,Calpain-3-related  limb-girdle muscular dystrophy R1,Calpain-3-related limb-girdle muscular dystrophy D4,CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY,CAMOS syndrome,CAMPOMELIC DYSPLASIA,CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME,CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,CAMPTOSYNPOLYDACTYLY COMPLEX,CAMSAP1-associated neuronal migration disorder,CAMURATI-ENGELMANN DISEASE,CANAVAN DISEASE,CANCER ALOPECIA PIGMENT DYSCRASIA ONYCHODYSTROPHY AND KERATODERMA,CANDIDIASIS FAMILIAL 4,CANDIDIASIS FAMILIAL 6,CANDIDIASIS FAMILIAL 8,CANDIDIASIS FAMILIAL 9,CANTU SYNDROME,Cantu syndrome HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA,Cap myopathy,Capillary malformation of the lower lip lymphatic malformation of face and neck asymmetry of face and limbs and partial/generalized overgrowth,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2,Capillary malformations congenital,CAPRIN1-related neurodevelopmental disorder,CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY,CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY HYPERAMMONEMIA DUE TO,Carbamoyl-phosphate synthetase 1 deficiency,CARBONIC ANHYDRASE VA DEFICIENCY HYPERAMMONEMIA DUE TO,CARBOXYPEPTIDASE N DEFICIENCY,Carcinoid syndrome,carcinoid tumor,CARCINOID TUMORS INTESTINAL,Carcinoma,Cardiac arrhythmia ankyrin-B-related,CARDIAC ARRHYTHMIA SYNDROME WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS,Cardiac conduction disease with or without dilated cardiomyopathy,CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY,CARDIAC VALVULAR DYSPLASIA 1,Cardiac valvular dysplasia 2,Cardiac valvular dysplasia X-linked,CARDIAC-UROGENITAL SYNDROME,Cardiac-valvular Ehlers-Danlos syndrome,CARDIOACROFACIAL DYSPLASIA 1,CARDIOACROFACIAL DYSPLASIA 2,CARDIOFACIOCUTANEOUS SYNDROME,CARDIOFACIOCUTANEOUS SYNDROME 1,CARDIOFACIOCUTANEOUS SYNDROME 2,CARDIOFACIOCUTANEOUS SYNDROME 3,CARDIOFACIOCUTANEOUS SYNDROME 4,CARDIOFACIONEURODEVELOPMENTAL SYNDROME,CARDIOMYOPATHY DILATED 1A,CARDIOMYOPATHY DILATED 1AA WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION,CARDIOMYOPATHY DILATED 1BB,CARDIOMYOPATHY DILATED 1C WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION,CARDIOMYOPATHY DILATED 1CC,CARDIOMYOPATHY DILATED 1D,CARDIOMYOPATHY DILATED 1DD,CARDIOMYOPATHY DILATED 1E,CARDIOMYOPATHY DILATED 1EE,CARDIOMYOPATHY DILATED 1FF,CARDIOMYOPATHY DILATED 1G,CARDIOMYOPATHY DILATED 1GG,CARDIOMYOPATHY DILATED 1HH,CARDIOMYOPATHY DILATED 1I,CARDIOMYOPATHY DILATED 1II,CARDIOMYOPATHY DILATED 1J,CARDIOMYOPATHY DILATED 1JJ,CARDIOMYOPATHY DILATED 1KK,CARDIOMYOPATHY DILATED 1L,CARDIOMYOPATHY DILATED 1M,Cardiomyopathy dilated 1nn,CARDIOMYOPATHY DILATED 1O,CARDIOMYOPATHY DILATED 1OO,CARDIOMYOPATHY DILATED 1P,CARDIOMYOPATHY DILATED 1R,CARDIOMYOPATHY DILATED 1S,CARDIOMYOPATHY DILATED 1V,CARDIOMYOPATHY DILATED 1W,CARDIOMYOPATHY DILATED 1X,CARDIOMYOPATHY DILATED 1Y,CARDIOMYOPATHY DILATED 1Z,CARDIOMYOPATHY DILATED 2A,Cardiomyopathy dilated 2b,CARDIOMYOPATHY DILATED 2C,CARDIOMYOPATHY DILATED 2D,CARDIOMYOPATHY DILATED 2E,Cardiomyopathy dilated 2F,Cardiomyopathy dilated 2G,Cardiomyopathy dilated 2H,CARDIOMYOPATHY DILATED 3B,CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM,CARDIOMYOPATHY DILATED WITH WOOLLY HAIR AND KERATODERMA,Cardiomyopathy dilated with woolly hair keratoderma and tooth agenesis,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 1,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 10,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 11,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 12,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 13,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 14,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 15,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 16,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 17,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 18,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 2,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 20,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 25,Cardiomyopathy familial hypertrophic 26,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 27,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 28,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 3,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 4,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 6,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 7,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 8,CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 9,CARDIOMYOPATHY FAMILIAL RESTRICTIVE 1,CARDIOMYOPATHY FAMILIAL RESTRICTIVE 3,CARDIOMYOPATHY FAMILIAL RESTRICTIVE 6,Cardiomyopathy-hypotonia-lactic acidosis syndrome,CARDIOSPONDYLOCARPOFACIAL SYNDROME,CAREY-FINEMAN-ZITER SYNDROME,CAREY-FINEMAN-ZITER SYNDROME 1,Carey-Fineman-Ziter syndrome 2,Carney complex,Carney complex type 1,CARNEY COMPLEX VARIANT,Carney complex-trismus-pseudocamptodactyly syndrome,Carney-Stratakis syndrome,Carnitine acylcarnitine translocase deficiency,CARNITINE DEFICIENCY SYSTEMIC PRIMARY,Carnitine palmitoyl transferase 1A deficiency,Carnitine palmitoyl transferase II deficiency myopathic form,Carnitine palmitoyl transferase II deficiency neonatal form,Carnitine palmitoyl transferase II deficiency severe infantile form,CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY,CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY INFANTILE,CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY LETHAL NEONATAL,CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY MYOPATHIC STRESS-INDUCED,CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY,Caroli disease,CAROTID INTIMAL MEDIAL THICKNESS 1,Carpal tunnel syndrome,Carpal tunnel syndrome 2,CARPENTER SYNDROME,CARPENTER SYNDROME 1,CARPENTER SYNDROME 2,CARTILAGE-HAIR HYPOPLASIA,Carvajal syndrome,CASPASE 8 DEFICIENCY,CASQ2-related CPVT,Cataract,CATARACT 1 MULTIPLE TYPES,CATARACT 10 MULTIPLE TYPES,CATARACT 11 MULTIPLE TYPES,CATARACT 12 MULTIPLE TYPES,CATARACT 12 MULTIPLE TYPES biallelic all missense/in frame,CATARACT 13 WITH ADULT i PHENOTYPE,CATARACT 14 MULTIPLE TYPES,CATARACT 15 MULTIPLE TYPES,CATARACT 16 MULTIPLE TYPES,CATARACT 17 MULTIPLE TYPES,CATARACT 17 MULTIPLE TYPES MONOALLELIC,CATARACT 18,CATARACT 19 MULTIPLE TYPES,CATARACT 2 MULTIPLE TYPES,CATARACT 20 MULTIPLE TYPES,Cataract 21 multiple types,CATARACT 22 MULTIPLE TYPES,CATARACT 22 MULTIPLE TYPES monoallelic uncertain,Cataract 23,CATARACT 23 MULTIPLE TYPES,CATARACT 3 MULTIPLE TYPES,CATARACT 30 MULTIPLE TYPES,CATARACT 31 MULTIPLE TYPES,CATARACT 33 MULTIPLE TYPES,Cataract 33 multiple types monoallelic uncertain,CATARACT 34 MULTIPLE TYPES,CATARACT 36,CATARACT 38,Cataract 39 multiple types,Cataract 39 multiple types autosomal dominant,CATARACT 4 MULTIPLE TYPES,CATARACT 40,Cataract 41,CATARACT 42,CATARACT 43,Cataract 44,CATARACT 45,Cataract 46 juvenile-onset,CATARACT 46 JUVENILE-ONSET WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY,CATARACT 47,Cataract 47 juvenile with microcornea,CATARACT 48,CATARACT 49,Cataract 5 multiple types,CATARACT 5 MULTIPLE TYPES biallelic uncertain,Cataract 50 with or without glaucoma,Cataract 6 multiple types,CATARACT 9 MULTIPLE TYPES,CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED,CATARACT AUTOSOMAL RECESSIVE CONGENITAL 1,Cataract autosomal recessive congenital 2,CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4,CATARACT CONGENITAL CERULEAN TYPE 2,CATARACT CONGENITAL NUCLEAR AUTOSOMAL RECESSIVE 2,CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES,CATARACT COPPOCK-LIKE,CATARACT NUCLEAR,CATARACT POSTERIOR POLAR TYPE 2,Cataract with or without azoospermia,CATARACT ZONULAR PULVERULENT CATARACT TYPE 3,Cataract-glaucoma syndrome,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,Cataract-intellectual disability-hypogonadism syndrome,Cataract-microcornea syndrome,Cataracts growth hormone deficiency sensory neuropathy sensorineural hearing loss and skeletal dysplasia,CATARACTS SPASTIC PARAPARESIS AND SPEECH DELAY,CATECHOL-O-METHYLTRANSFERASE,Catecholaminergic polymorphic ventricular tachycardia,Catel Manzke syndrome,Catel-Manzke syndrome,Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,CATIFA SYNDROME,caudal duplication anomaly,CAUDAL REGRESSION SYNDROME,CAVITARY OPTIC DISC ANOMALIES,CCDC115-CDG,CCDC32-associated neurodevelopmental syndrome,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,CD8 DEFICIENCY FAMILIAL,CDAGS SYNDROME,CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly,CDC42-related Neurodevelopmental Disorder,CDC42BPB-related Neurodevelopmental Disorder,CDH11-related,CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome,CDK19-associated Intellectual Disability and Epileptic Encephalopathy,CDKL5-deficiency disorder,CEBALID SYNDROME,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,cecum adenocarcinoma,CEDNIK syndrome,CELF2-related neurodevelopmental disorder,CELIAC DISEASE SUSCEPTIBILITY TO 1,CELIAC DISEASE SUSCEPTIBILITY TO 3,CELIAC DISEASE SUSCEPTIBILITY TO 4,CENANI-LENZ SYNDACTYLY SYNDROME,Cenani-Lenz syndrome,CENPJ-related developmental disorder,Central areolar choroidal dystrophy,Central core disease,central hypothyroidism and testicular enlargement,CENTRAL HYPOVENTILATION SYNDROME CONGENITAL 1,CENTRAL HYPOVENTILATION SYNDROME CONGENITAL 2 AND AUTONOMIC DYSFUNCTION,CENTRAL HYPOVENTILATION SYNDROME CONGENITAL 3,Central hypoventilation syndrome congenital with or without Hirschsprung disease,Central nervous system calcification-deafness-tubular acidosis-anemia syndrome,Central Nervous System Neoplasm,central neurocytoma,Centronuclear Myopathy 2,Centronuclear myopathy with dilated cardiomyopathy,CEP152-related Developmental Disorder,CEP85L-associated posterior-predominant lissencephaly,CEREBELLAR ATAXIA AREFLEXIA PES CAVUS OPTIC ATROPHY AND SENSORINEURAL HEARING LOSS,CEREBELLAR ATAXIA BRAIN ABNORMALITIES AND CARDIAC CONDUCTION DEFECTS,CEREBELLAR ATAXIA CAYMAN TYPE,CEREBELLAR ATAXIA DEAFNESS AND NARCOLEPSY AUTOSOMAL DOMINANT,CEREBELLAR ATAXIA IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSEQUILIBRIUM SYNDROME 1,CEREBELLAR ATAXIA IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSEQUILIBRIUM SYNDROME 2,CEREBELLAR ATAXIA IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSEQUILIBRIUM SYNDROME 3,CEREBELLAR ATAXIA IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSEQUILIBRIUM SYNDROME 4,CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME 2,CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME 4,CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 1,CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 3,Cerebellar ataxia neuropathy and vestibular areflexia syndrome,CEREBELLAR ATAXIA NONPROGRESSIVE WITH INTELLECTUAL DEVELOPMENTAL DISORDER,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Cerebellar ataxia-hypogonadism syndrome,CEREBELLAR ATROPHY DEVELOPMENTAL DELAY AND SEIZURES,CEREBELLAR ATROPHY VISUAL IMPAIRMENT AND PSYCHOMOTOR RETARDATION,Cerebellar atrophy visual impairment and psychomotor retardation monoallelic dominant negative,CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY,Cerebellar Atrophy with Spinal Motor Neuronopathy,CEREBELLAR DYSFUNCTION IMPAIRED INTELLECTUAL DEVELOPMENT AND HYPOGONADOTROPIC HYPOGONADISM,CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES,Cerebellar dysplasia with cysts with or without retinal dystrophy,CEREBELLAR HYPOPLASIA/ATROPHY EPILEPSY AND GLOBAL DEVELOPMENTAL DELAY,CEREBELLAR OCULAR CRANIOFACIAL AND GENITAL SYNDROME,cerebellar-facial-dental syndrome,Cerebello-Oculo-Facio-Genital syndrome,CEREBELLOFACIODENTAL SYNDROME,CEREBRAL AMYLOID ANGIOPATHY APP-RELATED,CEREBRAL AMYLOID ANGIOPATHY CST3-RELATED,CEREBRAL AMYLOID ANGIOPATHY ITM2B-RELATED 1,CEREBRAL AMYLOID ANGIOPATHY ITM2B-RELATED 2,CEREBRAL ARTERIOPATHY AUTOSOMAL DOMINANT WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY TYPE 1,Cerebral arteriopathy autosomal dominant with subcortical infarcts and leukoencephalopathy type 2,CEREBRAL ARTERIOPATHY AUTOSOMAL RECESSIVE WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY,Cerebral autosomal dominant arteiopathy with subcortical infarcts and leukencephalopathy,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,Cerebral cavernous malformation 1,Cerebral cavernous malformation 2,CEREBRAL CAVERNOUS MALFORMATIONS,CEREBRAL CAVERNOUS MALFORMATIONS 2,CEREBRAL CAVERNOUS MALFORMATIONS 3,CEREBRAL CAVERNOUS MALFORMATIONS 4,CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1,CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3,CEREBRAL CREATINE DEFICIENCY SYNDROME 1,CEREBRAL CREATINE DEFICIENCY SYNDROME 2,CEREBRAL CREATINE DEFICIENCY SYNDROME 3,Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome,Cerebral palsy spastic quadriplegic 2,Cerebral palsy spastic quadriplegic 3,CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1,CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2,CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3,Cerebral palsy spastic quadriplegic type 4,cerebral palsy spastic quadriplegic type 5,Cerebral palsy spastic quadriplegic type 6,Cerebral sinovenous thrombosis,Cerebro-costo-mandibular syndrome,Cerebro-facio-articular syndrome,CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2,Cerebrofaciothoracic dysplasia,CEREBROOCULOFACIOSKELETAL SYNDROME 1,CEREBROOCULOFACIOSKELETAL SYNDROME 2,CEREBROOCULOFACIOSKELETAL SYNDROME 3,CEREBROOCULOFACIOSKELETAL SYNDROME 4,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2,Cerebroretinal microangiopathy with calcifications and cysts 3,CEREBROTENDINOUS XANTHOMATOSIS,Cernunnos-XLF deficiency,CEROID LIPOFUSCINOSIS NEURONAL 1,CEROID LIPOFUSCINOSIS NEURONAL 10,CEROID LIPOFUSCINOSIS NEURONAL 11,CEROID LIPOFUSCINOSIS NEURONAL 13 KUFS TYPE,CEROID LIPOFUSCINOSIS NEURONAL 2,CEROID LIPOFUSCINOSIS NEURONAL 3,Ceroid lipofuscinosis neuronal 4 (Kufs type),CEROID LIPOFUSCINOSIS NEURONAL 5,CEROID LIPOFUSCINOSIS NEURONAL 6,Ceroid lipofuscinosis neuronal 6A,CEROID LIPOFUSCINOSIS NEURONAL 6B KUFS TYPE,CEROID LIPOFUSCINOSIS NEURONAL 7,CEROID LIPOFUSCINOSIS NEURONAL 8,Ceroid lipofuscinosis neuronal Kufs type adult onset,Cerulean cataract,cervical adenocarcinoma,Cervical Cancer,cervical carcinoma,Cervical Clear Cell Adenocarcinoma,cervical squamous cell carcinoma,CFC1-Related Conotruncal Heart Malformations,CHAMP1-related neurodevelopmental disorder,CHANARIN-DORFMAN SYNDROME,CHAND SYNDROME,CHAR SYNDROME,CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS,CHARCOT-MARIE-TOOTH DISEASE AXONAL AUTOSOMAL DOMINANT TYPE 2A2A,CHARCOT-MARIE-TOOTH DISEASE AXONAL AUTOSOMAL RECESSIVE TYPE 2A2B,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2A1,Charcot-Marie-Tooth disease axonal type 2A2B,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2B,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2B1,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2B2,Charcot-Marie-Tooth disease axonal type 2CC,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2D,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2DD,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2E,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2EE,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2F,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2FF,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2GG,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2HH,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2I,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2II,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2J,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2K,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2L,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2N,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2O,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2P,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2Q,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2R,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2S,Charcot-Marie-Tooth disease axonal type 2T,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2U,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2V,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2W,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2X,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2Y,CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2Z,Charcot-Marie-Tooth disease axonal with vocal cord paresis autosomal recessive,CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1A,CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1B,CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1C,CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1D,CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1F,CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1G,Charcot-Marie-Tooth disease demyelinating type 1H,Charcot-Marie-Tooth disease demyelinating type 1I,CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1J,CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 4F,CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE B,CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE C,CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE D,CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE E,CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE G,CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE A,CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE B,CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE C,Charcot-Marie-Tooth disease recessive intermediate D,Charcot-Marie-Tooth disease type 1A,Charcot-Marie-Tooth disease type 1B,Charcot-Marie-Tooth disease type 1C,Charcot-Marie-Tooth disease type 1D,Charcot-Marie-Tooth disease type 1E,Charcot-Marie-Tooth disease type 1F,Charcot-Marie-Tooth disease type 2B1,Charcot-Marie-Tooth disease type 2B2,Charcot-Marie-Tooth disease type 2B5,Charcot-Marie-Tooth disease type 2H,Charcot-Marie-Tooth disease type 2P,Charcot-Marie-Tooth disease type 2R,Charcot-Marie-Tooth disease type 2S,Charcot-Marie-Tooth disease type 2T,Charcot-Marie-Tooth disease type 4A,Charcot-Marie-Tooth disease type 4B1,Charcot-Marie-Tooth disease type 4B2,Charcot-Marie-Tooth disease type 4B3,Charcot-Marie-Tooth disease type 4C,Charcot-Marie-Tooth disease type 4D,Charcot-Marie-Tooth disease type 4E,Charcot-Marie-Tooth disease type 4F,Charcot-Marie-Tooth disease type 4G,Charcot-Marie-Tooth disease type 4H,Charcot-Marie-Tooth disease type 4J,CHARCOT-MARIE-TOOTH DISEASE TYPE 4K,Charcot-Marie-Tooth disease X-linked dominant 6,CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 4 WITH OR WITHOUTCEREBELLAR ATAXIA,CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 5,CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5,CHARGE SYNDROME,CHD1-related neurodevelopment disorder,CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,CHD5-associated neurodevelopmental disorder with intellectual disability speech delay and epilepsy,CHD8 overgrowth syndrome,Chediak-Higashi syndrome,CHEK2 related CANCER,CHEMOKINE CC MOTIF LIGAND 2,CHERUBISM,CHILBLAIN LUPUS 1,CHILBLAIN LUPUS 2,CHILD SYNDROME,Childhood absence epilepsy,childhood absence epilepsy type 5,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,Childhood-onset basal ganglia degeneration syndrome,Childhood-onset benign chorea with striatal involvement,Childhood-Onset Chorea with Bilateral Striatal Lesions,Childhood-Onset Dystonia and Optic Atrophy,Childhood-onset hypogammaglobulinemia,Childhood-onset hypophosphatasia,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,Childhood-onset nemaline myopathy,Childhood-Onset Neurodegeneration,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,Childhood-Onset Slowly Progressive Nemaline Myopathy,Childhood-onset spasticity with hyperglycinemia,Childhood-onset Steinert myotonic dystrophy,CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME,CHIME syndrome,CHITAYAT SYNDROME,Chitayat syndrome: hyperphalangism characteristic facies hallux valgus and bronchomalacia,CHITOTRIOSIDASE DEFICIENCY,CHKA-related neurodevelopmental disorder,Choanal atresia and lymphedema,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,Cholangiocarcinoma,CHOLESTASIS BENIGN RECURRENT INTRAHEPATIC 1,CHOLESTASIS BENIGN RECURRENT INTRAHEPATIC 2,CHOLESTASIS INTRAHEPATIC OF PREGNANCY 1,Cholestasis intrahepatic of pregnancy 3,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 1,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 10,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 11,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 12,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 2,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 3,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 4,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 5,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 6,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 7 WITH OR WITHOUT HEARING LOSS,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 8,CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 9,Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia,Cholesterol-ester transfer protein deficiency,Cholesteryl ester storage disease,CHONDROCALCINOSIS 2,Chondrodysplasia Blomstrand type,Chondrodysplasia Punctata 1 X-Linked,Chondrodysplasia punctata 1 X-linked recessive,Chondrodysplasia Punctata 2 X-Linked,CHONDRODYSPLASIA PUNCTATA 2 X-LINKED DOMINANT,Chondrodysplasia punctata X-linked recessive,CHONDRODYSPLASIA WITH JOINT DISLOCATIONS GPAPP TYPE,Chondrodysplasia with joint dislocations GRAPP type,Chondrodysplasia with multiple dislocations and amelogenesis imperfecta,Chondrodysplasia with platyspondyly distinctive brachydactyly hydrocephaly and microphthalmia,Chondrodysplasia-difference of sex development syndrome,Chondroid Hamartoma,Chondromyxoid fibroma,CHONDROSARCOMA,CHONDROSARCOMA EXTRASKELETAL MYXOID,CHOPRA-AMIEL-GORDON SYNDROME,CHOPS SYNDROME,Chordoid Meningioma,Chordoma,CHOREA BENIGN HEREDITARY,Chorea childhood-onset with psychomotor retardation,CHOREOACANTHOCYTOSIS,CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION,CHOREOATHETOSIS HYPOTHYROIDISM AND NEONATAL RESPIRATORY DISTRESS,Choroid plexus carcinoma,Choroid plexus papilloma,CHOROIDAL DYSTROPHY CENTRAL AREOLAR 1,CHOROIDAL DYSTROPHY CENTRAL AREOLAR 2,CHOROIDEREMIA,Christianson syndrome,CHRM1-associated intellectual disability,CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY AUTOSOMAL DOMINANT,CHRNA3-related congenital anomalies of the kidney and urinary tract,CHRNB1-related congenital myaesthenia biallelic,CHRNB1-related congenital myaesthenia monoallelic,Chrnb2-Related nocturnal frontal lobe epilepsy autosomal dominant,Chromophobe renal cell carcinoma,Chromosome 11p15.5-Related Russell-Silver Syndrome,CHROMOSOME 15q13.3 DELETION SYNDROME,Chromosome 17q21.31 microdeletion syndrome,CHROMOSOME 1q21.1 DELETION SYNDROME 1.35-MB,CHROMOSOME 20q11-q12 DELETION SYNDROME,CHROMOSOME 2p16.3 DELETION SYNDROMESCHIZOPHRENIA 17 INCLUDED,CHROMOSOME 2q37 DELETION SYNDROME,CHROMOSOME 5q DELETION SYNDROME,CHROMOSOME Xq26.3 DUPLICATION SYNDROME,Chromosome Xq28 duplication syndrome,CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA,Chronic atrial and intestinal dysrhythmia syndrome,Chronic beryllium disease,Chronic enteropathy associated with SLCO2A1 gene,Chronic eosinophilic leukemia,Chronic Eosinophilic Leukemia Not Otherwise Specified,Chronic granulomatous disease,Chronic granulomatous disease AR cytochrome b negative,Chronic granulomatous disease AR cytochrome b positive type I,Chronic granulomatous disease AR cytochrome b positive type II,Chronic granulomatous disease X-linked,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,Chronic lymphocytic leukemia,Chronic lymphoproliferative disorder of natural killer cells,Chronic mast cell leukemia,Chronic mucocutaneous candidiasis,Chronic myelogenous leukemia,Chronic myeloid leukemia,Chronic myelomonocytic leukemia,Chronic myeloproliferative disease unclassifiable,Chronic neurologic cutaneous and articular syndrome CINCA,Chronic neutrophilic leukemia,chronic pancreatitis,Chronic respiratory distress with surfactant metabolism deficiency,Chronic visceral acid sphingomyelinase deficiency,CHST3-related skeletal dysplasia,CHUDLEY-MCCULLOUGH SYNDROME,CHUNG-JANSEN SYNDROME,Chuvash erythrocytosis,CHYLOMICRON RETENTION DISEASE,CIC-related neurodevelopmental disorder,CIDEC-related familial partial lipodystrophy,CILIARY DYSKINESIA PRIMARY 1,CILIARY DYSKINESIA PRIMARY 10,CILIARY DYSKINESIA PRIMARY 11,CILIARY DYSKINESIA PRIMARY 12,CILIARY DYSKINESIA PRIMARY 13,Ciliary dyskinesia primary 14,Ciliary dyskinesia primary 15,CILIARY DYSKINESIA PRIMARY 16,CILIARY DYSKINESIA PRIMARY 17,CILIARY DYSKINESIA PRIMARY 18,CILIARY DYSKINESIA PRIMARY 19,CILIARY DYSKINESIA PRIMARY 2,CILIARY DYSKINESIA PRIMARY 20,CILIARY DYSKINESIA PRIMARY 21,CILIARY DYSKINESIA PRIMARY 22,CILIARY DYSKINESIA PRIMARY 23,CILIARY DYSKINESIA PRIMARY 24,CILIARY DYSKINESIA PRIMARY 25,Ciliary dyskinesia primary 26,CILIARY DYSKINESIA PRIMARY 27,Ciliary dyskinesia primary 28,CILIARY DYSKINESIA PRIMARY 29,CILIARY DYSKINESIA PRIMARY 3,Ciliary dyskinesia primary 30,CILIARY DYSKINESIA PRIMARY 32,CILIARY DYSKINESIA PRIMARY 34,CILIARY DYSKINESIA PRIMARY 35,CILIARY DYSKINESIA PRIMARY 36 X-LINKED,CILIARY DYSKINESIA PRIMARY 37,CILIARY DYSKINESIA PRIMARY 38,CILIARY DYSKINESIA PRIMARY 39,CILIARY DYSKINESIA PRIMARY 40,CILIARY DYSKINESIA PRIMARY 41,CILIARY DYSKINESIA PRIMARY 42,CILIARY DYSKINESIA PRIMARY 43,CILIARY DYSKINESIA PRIMARY 44,CILIARY DYSKINESIA PRIMARY 45,CILIARY DYSKINESIA PRIMARY 46,CILIARY DYSKINESIA PRIMARY 47 AND LISSENCEPHALY,Ciliary dyskinesia primary 48 without situs inversus,Ciliary dyskinesia primary 49 without situs inversus,CILIARY DYSKINESIA PRIMARY 5,Ciliary dyskinesia primary 50,CILIARY DYSKINESIA PRIMARY 6,CILIARY DYSKINESIA PRIMARY 7,CILIARY DYSKINESIA PRIMARY 9,Ciliopathy syndrome,Ciliopathy-related syndromic intellectual disability,CIMDAG SYNDROME,CIMDAG Syndrome biallelic,CIMDAG Syndrome monoallelic,CINCA SYNDROME,Circumferential Skin Creases Kunze Type,CIRRHOSIS FAMILIALCIRRHOSIS FAMILIAL WITH PULMONARY HYPERTENSION INCLUDED,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,CITRULLINEMIA CLASSIC,Citrullinemia Type I,Citrullinemia type II,CITRULLINEMIA TYPE II ADULT-ONSET,CITRULLINEMIA TYPE II NEONATAL-ONSET,CK SYNDROME,Clark-Baraitser syndrome,Class I glucose-6-phosphate dehydrogenase deficiency,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency salt wasting form,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency simple virilizing form,Classic congenital lipoid adrenal hyperplasia due to STAR deficency,Classic galactosemia,Classic glucose transporter type 1 deficiency syndrome,Classic hairy cell leukemia,Classic Hodgkin lymphoma nodular sclerosis type,Classic homocystinuria,Classic maple syrup urine disease,Classic multiminicore myopathy,Classic mycosis fungoides,Classic pantothenate kinase associated neurodegeneration,Classic phenylketonuria,Classic progressive supranuclear palsy syndrome,Classical Ehlers-Danlos syndrome,Classical-like Ehlers Danlos syndrome,Classical-like Ehlers-Danlos syndrome type 1,Classical-like Ehlers-Danlos syndrome type 2,CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities,CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities,CLCN4-related X-linked intellectual disability syndrome,CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,CLCN6-related Developmental Disorder,CLCN7-Related Osteopetrosis,CLDN5-related neurodevelopmental disorder,clear cell adenocarcinoma,Clear cell papillary renal cell carcinoma,Clear cell renal carcinoma,clear cell sarcoma,Clear cell sarcoma of kidney,Cleft hard palate,Cleft Lip +/- Cleft Palate,Cleft lip and alveolus,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,Cleft lip/palate,CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME,CLEFT PALATE CARDIAC DEFECTS AND IMPAIRED INTELLECTUAL DEVELOPMENT,CLEFT PALATE PROLIFERATIVE RETINOPATHY AND DEVELOPMENTAL DELAY,Cleft palate psychomotor retardation and distinctive facial features,Cleft palate with or without ankyloglossia X-linked,Cleft palate X-linked,Cleft velum,CLEIDOCRANIAL DYSPLASIA,CLEIDOCRANIAL DYSPLASIA 1,CLEIDOCRANIAL DYSPLASIA 2,CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA ABSENT THUMBS AND DISTAL APHALANGIA YUNIS-VARON SYNDROME,CLN1 disease,CLN10 disease,CLN11 disease,CLN13 disease,CLN2 disease,CLN3 disease,CLN4A disease,CLN4B disease,CLN5 disease,CLN6 disease,CLN7 disease,CLN8 disease,CLOUSTON SYNDROME,CLOVES syndrome,CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH VASCULAR MALFORMATIONS AND EPIDERMAL NEVI,Clubbing with skeletal dysplasia inc acroosteolysis,CLUBFOOT CONGENITAL WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY,CNNM2-related neurodevelopmental disorder with hypomagnesemia,CNOT1-related neurodevelopmental disorder,CNOT3 syndrome,CNTNAP2-related developmental and epileptic encephalopathy,COACH SYNDROME,COACH SYNDROME 1,COACH SYNDROME 2,COACH SYNDROME 3,COASY protein-associated neurodegeneration,Coats disease,Coats Plus,Coats plus syndrome,Cobalamin Disorder,Cobblestone brain malformation without muscular or ocular abnormalities,Cobblestone Lissencephaly,Cobblestone lissencephaly without muscular or ocular involvement,Cockayne syndrome A,COCKAYNE SYNDROME B,Cockayne syndrome type 1,Cockayne syndrome type 2,Cockayne syndrome type 3,Cockayne syndrome type A,COCKAYNE SYNDROME TYPE B,Cocoon syndrome,CODAS syndrome,Coenzyme Q10 deficiency,COENZYME Q10 DEFICIENCY PRIMARY 1,COENZYME Q10 DEFICIENCY PRIMARY 2,COENZYME Q10 DEFICIENCY PRIMARY 3,COENZYME Q10 DEFICIENCY PRIMARY 4,COENZYME Q10 DEFICIENCY PRIMARY 5,COENZYME Q10 DEFICIENCY PRIMARY 6,COENZYME Q10 DEFICIENCY PRIMARY 7,Coenzyme Q10 deficiency primary 8,COENZYME Q10 DEFICIENCY PRIMARY 9,Coffin Siris,Coffin Siris like disorder,COFFIN SIRIS SYNDROME,COFFIN-LOWRY SYNDROME,Coffin-Lowry Syndrome 2 RPS6KA3 XLD,Coffin-Lowry Syndrome 2 RPS6KA3 XLR,COFFIN-SIRIS SYNDROME,COFFIN-SIRIS SYNDROME 1,COFFIN-SIRIS SYNDROME 11,COFFIN-SIRIS SYNDROME 12,COFFIN-SIRIS SYNDROME 2,COFFIN-SIRIS SYNDROME 3,COFFIN-SIRIS SYNDROME 4,COFFIN-SIRIS SYNDROME 5,COFFIN-SIRIS SYNDROME 6,COFFIN-SIRIS SYNDROME 7,COFFIN-SIRIS SYNDROME 8,COFS syndrome,COG1-CDG,COG2-CDG,COG4-CDG,COG5-CDG,COG6-CGD,COG7-CDG,COG8-CDG,Cognitive impairment with or without cerebellar ataxia,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,Cohen syndrome,Cohen-Gibson syndrome,Cohesinopathy,COL1A1-RELATED OSTEOGENESIS IMPERFECTA,COL1A1/2-Related Osteogenesis Imperfecta,COL4A1-related familial vascular leukoencephalopathy,COL6A1 associated myopathy,COL6A2-related Ullrich congenital muscular dystrophy biallelic,COL6A2-related Ullrich congenital muscular dystrophy monoallelic,COLCHICINE RESISTANCE,Cold induced sweating syndrome,Cold urticaria familial,Cold-induced sweating syndrome,Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa,Cole disease,COLE-CARPENTER SYNDROME,COLE-CARPENTER SYNDROME 1,COLE-CARPENTER SYNDROME 2,Collagen VI-related congenital muscular dystrophy,collecting duct carcinoma,COLOBOMA CONGENITAL HEART DISEASE ICHTHYOSIFORM DERMATOSIS IMPAIRED INTELLECTUAL DEVELOPMENT AND EAR ANOMALIES SYNDROME,COLOBOMA OCULAR AUTOSOMAL DOMINANT,COLOBOMA OCULAR AUTOSOMAL RECESSIVE,COLOBOMA OCULAR WITH OR WITHOUT HEARING IMPAIRMENT CLEFT LIP/PALATE AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT,COLOBOMA OCULAR WITH OR WITHOUT HEARING IMPAIRMENT CLEFT LIP/PALATE AND/OR INTELLECTUAL DEVELOPMENTAL DISORDER,Coloboma of choroid and retina,Coloboma of eye lens,Coloboma of eyelid,Coloboma of iris,Coloboma of macula,Coloboma of optic disc,COLOBOMA OF OPTIC NERVE OPTIC NERVE HEAD PITS BILATERAL CONGENITAL INCLUDED,Coloboma osteopetrosis microphthalmia macrocephaly albinism and deafness,Coloboma Osteopetrosis Microphthalmia Macrocephaly Albinism and Deafness COMMAD,Colobomatous macrophthalmia with microcornea syndrome,Colobomatous macrophthalmia-microcornea syndrome,Colobomatous microphthalmia,Colobomatous microphthalmia microcephaly intellectual disability and short stature,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,colon adenocarcinoma,colon carcinoma,Colon Inflammatory Polyp,Colon Juvenile Polyp,colonic neoplasm,COLORBLINDNESS PARTIAL DEUTAN SERIES,COLORBLINDNESS PARTIAL PROTAN SERIES,colorectal adenocarcinoma,Colorectal adenoma,Colorectal Cancer,COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 1,COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 4,COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 6,COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 7,COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 8,COLORECTAL CANCER SUSCEPTIBILITY TO 1,COLORECTAL CANCER SUSCEPTIBILITY TO 10,Colorectal cancer susceptibility to 12,COLORECTAL CANCER SUSCEPTIBILITY TO 3,colorectal carcinoma,Colorectal Hamartoma,colorectal neoplasm,Colorectal Neuroendocrine Tumor G1,Colorectal Serrated Adenocarcinoma,Colorectal Sessile Serrated Adenoma/Polyp,COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS,COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA,Combined deficiency of factor V and factor VIII,Combined immunodeficiency,COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA,Combined immunodeficiency due to CARMIL2 deficiency,Combined immunodeficiency due to CD27 deficiency,Combined immunodeficiency due to CD3gamma deficiency,Combined immunodeficiency due to CD70 deficiency,Combined immunodeficiency due to DOCK8 deficiency,Combined immunodeficiency due to FCHO1 deficiency,Combined immunodeficiency due to GINS1 deficiency,Combined immunodeficiency due to IL21R deficiency,Combined immunodeficiency due to ITK deficiency,Combined immunodeficiency due to LRBA deficiency,Combined immunodeficiency due to MALT1 deficiency,Combined immunodeficiency due to Moesin deficiency,Combined immunodeficiency due to ORAI1 deficiency,Combined immunodeficiency due to OX40 deficiency,Combined immunodeficiency due to partial RAG1 deficiency,Combined immunodeficiency due to STIM1 deficiency,Combined immunodeficiency due to STK4 deficiency,Combined immunodeficiency due to TFRC deficiency,Combined immunodeficiency due to ZAP70 deficiency,Combined immunodeficiency with faciooculoskeletal anomalies,Combined immunodeficiency with granulomatosis,COMBINED IMMUNODEFICIENCY X-LINKED,Combined immunodeficiency-enteropathy spectrum,Combined malonic and methylmalonic acidemia,Combined malonic and methylmalonic aciduria,COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1,COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2,Combined oxidative phosphorylation defect type 11,Combined oxidative phosphorylation defect type 13,Combined oxidative phosphorylation defect type 14,Combined oxidative phosphorylation defect type 15,Combined oxidative phosphorylation defect type 17,Combined oxidative phosphorylation defect type 2,Combined oxidative phosphorylation defect type 20,Combined oxidative phosphorylation defect type 21,Combined oxidative phosphorylation defect type 23,Combined oxidative phosphorylation defect type 24,Combined oxidative phosphorylation defect type 25,Combined oxidative phosphorylation defect type 26,Combined oxidative phosphorylation defect type 27,Combined oxidative phosphorylation defect type 29,Combined oxidative phosphorylation defect type 30,Combined oxidative phosphorylation defect type 39,Combined oxidative phosphorylation defect type 4,Combined oxidative phosphorylation defect type 7,Combined oxidative phosphorylation defect type 8,Combined oxidative phosphorylation defect type 9,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15,Combined oxidative phosphorylation deficiency 16,Combined oxidative phosphorylation deficiency 17,Combined oxidative phosphorylation deficiency 18,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2,Combined oxidative phosphorylation deficiency 20,Combined oxidative phosphorylation deficiency 21,Combined oxidative phosphorylation deficiency 22,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23,Combined oxidative phosphorylation deficiency 24,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27,Combined oxidative phosphorylation deficiency 28,Combined oxidative phosphorylation deficiency 29,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36,Combined oxidative phosphorylation deficiency 37,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45,Combined oxidative phosphorylation deficiency 46,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53,Combined oxidative phosphorylation deficiency 54,Combined oxidative phosphorylation deficiency 55,Combined oxidative phosphorylation deficiency 56,Combined oxidative phosphorylation deficiency 57,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6,Combined oxidative phosphorylation deficiency 7,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9,Combined pituitary hormone deficiencies genetic forms,COMBINED SAPOSIN DEFICIENCY,COMMAD syndrome,Common variable immunodeficiency,COMPLEMENT COMPONENT 2 DEFICIENCY,Complement component 3 deficiency,COMPLEMENT COMPONENT 3 DEFICIENCY AUTOSOMAL RECESSIVE,COMPLEMENT COMPONENT 4 PARTIAL DEFICIENCY OF,COMPLEMENT COMPONENT 4A DEFICIENCY,COMPLEMENT COMPONENT 4B DEFICIENCY,COMPLEMENT COMPONENT 5 DEFICIENCY,COMPLEMENT COMPONENT 6 DEFICIENCY,Complement component 7 deficiency,COMPLEMENT COMPONENT 8 DEFICIENCY TYPE I,COMPLEMENT COMPONENT 8 DEFICIENCY TYPE II,COMPLEMENT COMPONENT 9 DEFICIENCY,COMPLEMENT COMPONENT C1s DEFICIENCY,COMPLEMENT FACTOR B DEFICIENCY,COMPLEMENT FACTOR D DEFICIENCY,COMPLEMENT FACTOR H DEFICIENCY,COMPLEMENT FACTOR I DEFICIENCY,COMPLEMENT HYPERACTIVATION ANGIOPATHIC THROMBOSIS AND PROTEIN-LOSING ENTEROPATHY,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,Complete androgen insensitivity syndrome,Complete atrioventricular septal defect with ventricular hypoplasia,Complete atrioventricular septal defect without ventricular hypoplasia,Complete atrioventricular septal defect-tetralogy of Fallot,Complete cryptophthalmia,Complete hydatidiform mole,Complex craniosynostosis,Complex early-onset dystonia,Complex Hereditary Spastic Paraplegia,COMPLEX LETHAL OSTEOCHONDRODYSPLASIA,Cone dystrophy,CONE DYSTROPHY 3,CONE DYSTROPHY 4,Cone dystrophy with supernormal rod response,Cone dystrophy with supernormal rod responses,Cone dystrophy-3,Cone rod dystrophy,Cone-rod dystrophy,CONE-ROD DYSTROPHY 10,CONE-ROD DYSTROPHY 11,CONE-ROD DYSTROPHY 12,CONE-ROD DYSTROPHY 13,Cone-rod dystrophy 14,CONE-ROD DYSTROPHY 15,Cone-rod dystrophy 16,Cone-rod dystrophy 18,CONE-ROD DYSTROPHY 19,CONE-ROD DYSTROPHY 2,CONE-ROD DYSTROPHY 20,CONE-ROD DYSTROPHY 21,CONE-ROD DYSTROPHY 22,Cone-rod dystrophy 24,CONE-ROD DYSTROPHY 3,CONE-ROD DYSTROPHY 5,CONE-ROD DYSTROPHY 6,CONE-ROD DYSTROPHY 7,CONE-ROD DYSTROPHY 9,Cone-rod dystrophy and hearing loss,CONE-ROD DYSTROPHY AND HEARING LOSS 1,CONE-ROD DYSTROPHY AND HEARING LOSS 2,Cone-rod dystrophy X-linked 1,CONE-ROD DYSTROPHY X-LINKED 3,CONE-ROD SYNAPTIC DISORDER CONGENITAL NONPROGRESSIVE,CONE-ROD SYNAPTIC DISORDER SYNDROME CONGENITAL NONPROGRESSIVE,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Congenital adrenal hypoplasia,Congenital alpha2 antiplasmin deficiency,Congenital alveolar capillary dysplasia,Congenital amegakaryocytic thrombocytopenia,Congenital analbuminemia,CONGENITAL AND JUVENILE CATARACT,CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1,CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2,CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT CAKUT1,CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS ABNORMAL EARS OR DEVELOPMENTAL DELAY,CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE,Congenital atransferrinemia,Congenital autosomal recessive small-platelet thrombocytopenia,Congenital bilateral absence of vas deferens,Congenital bile acid synthesis defect type 1,Congenital bile acid synthesis defect type 2,Congenital bile acid synthesis defect type 3,Congenital bile acid synthesis defect type 4,Congenital brain dysgenesis due to glutamine synthetase deficiency,Congenital cataract,Congenital Cataract Corneal Opacity and Developmental Glaucoma,Congenital cataract microcornea with corneal opacity,Congenital cataract monoallelic uncertain,Congenital cataract-hearing loss-severe developmental delay syndrome,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY,CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME,CONGENITAL CATARACTS HEARING LOSS AND NEURODEGENERATION,Congenital cataracts-facial dysmorphism-neuropathy syndrome,Congenital central hypoventilation syndrome,Congenital Cerebellar Ataxia,Congenital cerebellar ataxia due to RNU12 mutation,Congenital chloride diarrhea,Congenital chronic diarrhea with protein-losing enteropathy,congenital clubfoot,Congenital communicating hydrocephalus,Congenital contractural arachnodactyly,CONGENITAL CONTRACTURES OF THE LIMBS AND FACE HYPOTONIA AND DEVELOPMENTAL DELAY,Congenital cornea plana,Congenital corneal opacification sclerocornea,Congenital deficiency in alpha-fetoprotein,Congenital diaphragmatic hernia,CONGENITAL DIARRHEAL DISORDERS,CONGENITAL DISORDER OF DEGLYCOSYLATION,CONGENITAL DISORDER OF DEGLYCOSYLATION 1,Congenital disorder of deglycosylation 2,Congenital Disorder of Glycosylation,Congenital disorder of glycosylation type 1G,congenital disorder of glycosylation type 1N,Congenital disorder of glycosylation type 1O,CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A,Congenital disorder of glycosylation type 2C,CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2V,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ia,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iaa,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ib,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ic,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Icc,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Id,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ie,CONGENITAL DISORDER OF GLYCOSYLATION TYPE If,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ig,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ih,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ii,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIa,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIb,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IId,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIe,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIf,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIg,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIh,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIi,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIj,Congenital disorder of glycosylation type IIk,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIl,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIm,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIn,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIo,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIp,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIq,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIr,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIt,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIw,Congenital disorder of glycosylation type IIy,CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIz,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ij,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ik,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Il,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Im,CONGENITAL DISORDER OF GLYCOSYLATION TYPE In,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ip,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iq,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ir,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Is,CONGENITAL DISORDER OF GLYCOSYLATION TYPE It,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iu,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iw,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iw AUTOSOMAL DOMINANT,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iw AUTOSOMAL RECESSIVE,CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ix,CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION,Congenital disorder of glycosylation with defective fucosylation 1,CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2,Congenital Disorders of Glycosylation,Congenital dyserythropoietic anemia type I,Congenital dyserythropoietic anemia type II,Congenital dyserythropoietic anemia type III,Congenital dyserythropoietic anemia type IV,Congenital enteropathy due to enteropeptidase deficiency,Congenital erythropoietic porphyria,Congenital factor II deficiency,Congenital factor V deficiency,Congenital factor VII deficiency,Congenital factor X deficiency,Congenital factor XI deficiency,Congenital factor XII deficiency,Congenital factor XIII deficiency,Congenital fiber-type disproportion myopathy,Congenital fibrosis of extraocular muscles,Congenital generalized hypercontractile muscle stiffness syndrome,Congenital generalized lipodystrophy,CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3,Congenital glaucoma,Congenital glucokinase-related hyperinsulinism,CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA,Congenital heart defects and skeletal malformations,CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME,CONGENITAL HEART DEFECTS and XX sex reversal,CONGENITAL HEART DEFECTS DYSMORPHIC FACIAL FEATURES AND INTELLECTUAL DEVELOPMENTAL DISORDER,CONGENITAL HEART DEFECTS HAMARTOMAS OF TONGUE AND POLYSYNDACTYLY,CONGENITAL HEART DEFECTS MULTIPLE TYPES 2,Congenital heart defects multiple types 4,CONGENITAL HEART DEFECTS MULTIPLE TYPES 5,CONGENITAL HEART DEFECTS MULTIPLE TYPES 6,CONGENITAL HEART DEFECTS MULTIPLE TYPES 7,CONGENITAL HEART DEFECTS MULTIPLE TYPES 8 WITH OR WITHOUT HETEROTAXY,Congenital heart defects multiple types 9,Congenital heart disease,CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER,CONGENITAL HEART DISEASE NONSYNDROMIC 2,Congenital Hemangioma,CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS,Congenital hereditary endothelial dystrophy type I,Congenital hereditary endothelial dystrophy type II,Congenital hereditary facial paralysis-variable hearing loss syndrome,Congenital high-molecular-weight kininogen deficiency,Congenital hyperinsulinism due to HNF4A deficiency,CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2,CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5,CONGENITAL HYPOTONIA EPILEPSY DEVELOPMENTAL DELAY AND DIGITAL ANOMALIES,congenital hypotonia epilepsy developmental delay digit abnormalities,Congenital ichthyosiform erythroderma,congenital ichthyosis,Congenital ichthyosis type 1,Congenital ichthyosis type 2,Congenital ichthyosis type 3,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,congenital inability to experience pain,Congenital insensitivity to pain with anhidrosis,Congenital insensitivity to pain with severe intellectual disability,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,Congenital intrauterine infection-like syndrome,Congenital intrinsic factor deficiency,Congenital isolated ACTH deficiency,Congenital lactase deficiency,Congenital lactic acidosis Saguenay-Lac-Saint-Jean type,Congenital lethal myopathy Compton-North type,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,Congenital lipomatous overgrowth vascular malformations and epidermal nevi,Congenital Lower Urinary Tract Obstruction,Congenital lymphatic dysplasia with hydrops and/or lymphoedema,Congenital megabladder,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,Congenital mesoblastic nephroma,Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,Congenital multicore myopathy with external ophthalmoplegia,Congenital Muscular Dystrophy,Congenital muscular dystrophy due to LMNA mutation,Congenital muscular dystrophy Fukuyama type,Congenital muscular dystrophy Ullrich type,Congenital muscular dystrophy with cerebellar involvement,Congenital muscular dystrophy with integrin alpha-7 deficiency,Congenital muscular dystrophy with intellectual disability,Congenital muscular dystrophy with intellectual disability and severe epilepsy,Congenital muscular dystrophy without intellectual disability,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,Congenital myasthenic syndrome 15,Congenital Myasthenic Syndrome Type 19,Congenital Myasthenic Syndrome with Episodic Apnea,Congenital myasthenic syndromes with glycosylation defect,CONGENITAL MYOPATHY 10A SEVERE VARIANT,Congenital myopathy 10b mild variant,Congenital myopathy 11,CONGENITAL MYOPATHY 12,CONGENITAL MYOPATHY 13,CONGENITAL MYOPATHY 14,CONGENITAL MYOPATHY 15,CONGENITAL MYOPATHY 16,CONGENITAL MYOPATHY 17,Congenital myopathy 18,CONGENITAL MYOPATHY 19,CONGENITAL MYOPATHY 1A AUTOSOMAL DOMINANT WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA,CONGENITAL MYOPATHY 1B AUTOSOMAL RECESSIVE,Congenital myopathy 20,Congenital myopathy 21 with early respiratory failure,Congenital myopathy 22A classic,Congenital myopathy 22B severe fetal,CONGENITAL MYOPATHY 2A TYPICAL AUTOSOMAL DOMINANT,Congenital myopathy 2b severe infantile autosomal recessive,Congenital myopathy 2c severe infantile autosomal dominant,CONGENITAL MYOPATHY 3 WITH RIGID SPINE,Congenital myopathy 4A autosomal dominant,Congenital myopathy 4B autosomal recessive,CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY,CONGENITAL MYOPATHY 6 WITH OPHTHALMOPLEGIA,CONGENITAL MYOPATHY 7A MYOSIN STORAGE AUTOSOMAL DOMINANT,CONGENITAL MYOPATHY 7B MYOSIN STORAGE AUTOSOMAL RECESSIVE,CONGENITAL MYOPATHY 8,CONGENITAL MYOPATHY 9A,CONGENITAL MYOPATHY 9B PROXIMAL WITH MINICORE LESIONS,Congenital myopathy Paradas type,CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES,Congenital myopathy with excess of thin filaments,Congenital myopathy with internal nuclei and atypical cores,Congenital myopathy with myasthenic-like onset,Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores,Congenital myopathy with reduced type 2 muscle fibers,Congenital nephrotic syndrome Finnish type,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,Congenital non-communicating hydrocephalus,Congenital or early infantile CACH syndrome,Congenital plasminogen activator inhibitor type 1 deficiency,Congenital prekallikrein deficiency,Congenital primary aphakia,Congenital primary lymphedema of Gordon,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,Congenital ptosis,Congenital reticular ichthyosiform erythroderma,Congenital short bowel syndrome,Congenital sialidosis type 2,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,Congenital sodium diarrhea,Congenital stationary night blindness,Congenital Stromal Corneal Dystrophy,Congenital sucrase-isomaltase deficiency,CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY,Congenital thrombotic thrombocytopenic purpura,Congenital tufting enteropathy,CONGENITAL VARIANT OF RETT SYNDROME,Congenital vascular tumours,Congenital vertebral-cardiac-renal anomalies syndrome,Congenital vertical talus bilateral,Congenital vertical talus unilateral,Congenital-onset Steinert myotonic dystrophy,Congenitally uncorrected transposition of the great arteries with cardiac malformation,Congenitally uncorrected transposition of the great arteries with coarctation,Conjunctival Disorder,Conjunctival Nevus,Conjunctival Squamous Cell Carcinoma,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,Conotruncal heart malformations,Constitutional megaloblastic anemia with severe neurologic disease,Constitutional mismatch repair deficiency syndrome,CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME CCMRD,Continuous spikes and waves during sleep,CONTRACTURAL ARACHNODACTYLY CONGENITAL,CONTRACTURES PTERYGIA AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A,CONTRACTURES PTERYGIA AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B,CONVULSIONS FAMILIAL INFANTILE WITH PAROXYSMAL CHOREOATHETOSIS,COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly,COPB2-associated developmental delay and microcephaly,COPB2-related developmental delay and osteopenia,COPROPORPHYRIA HEREDITARY,Coralliform cataract,Cornea plana,CORNEA PLANA 2 AUTOSOMAL RECESSIVE,CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS,CORNEAL DYSTROPHY AVELLINO TYPE,CORNEAL DYSTROPHY CONGENITAL STROMAL,CORNEAL DYSTROPHY EPITHELIAL BASEMENT MEMBRANE,CORNEAL DYSTROPHY FLECK,CORNEAL DYSTROPHY FUCHS ENDOTHELIAL 1,CORNEAL DYSTROPHY FUCHS ENDOTHELIAL 3,Corneal dystrophy fuchs endothelial 4,CORNEAL DYSTROPHY FUCHS ENDOTHELIAL 6,Corneal dystrophy fuchs endothelial 8,CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6,CORNEAL DYSTROPHY GELATINOUS DROP-LIKE,CORNEAL DYSTROPHY GROENOUW TYPE I,CORNEAL DYSTROPHY LATTICE TYPE I,CORNEAL DYSTROPHY LATTICE TYPE IIIA,CORNEAL DYSTROPHY MEESMANN 1,CORNEAL DYSTROPHY MEESMANN 2,CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 1,CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 2,CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 3,CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 4,CORNEAL DYSTROPHY PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET,CORNEAL DYSTROPHY REIS-BUCKLERS TYPE,CORNEAL DYSTROPHY THIEL-BEHNKE TYPE,Corneal dystrophy-perceptive deafness syndrome,Corneal endothelial dystrophy,Corneal endothelial dystrophy autosomal recessive,Corneal intraepithelial dyskeratosis,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,Cornelia de Lange syndrome,CORNELIA DE LANGE SYNDROME 1,CORNELIA DE LANGE SYNDROME 2,CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS,CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS,CORNELIA DE LANGE SYNDROME 5,Cornelia de Lange Syndrome HDAC8 X-linked dominant,CORNELIA DE LANGE SYNDROME TYPE 1,CORNELIA DE LANGE SYNDROME TYPE 2,CORNELIA DE LANGE SYNDROME TYPE 3,Cornelia de Lange-like syndrome,CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR,CORONARY ARTERY DISEASE AUTOSOMAL DOMINANT 1,Coronary Artery Disease Autosomal Dominant 2,Coronary Heart Disease Susceptibility To 1,Coronary Heart Disease Susceptibility To 6,CORONARY HEART DISEASE SUSCEPTIBILITY TO 7,CORPUS CALLOSUM AGENESIS OF WITH ABNORMAL GENITALIA,CORPUS CALLOSUM AGENESIS OF WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA,CORPUS CALLOSUM AGENESIS OF WITH IMPAIRED INTELLECTUAL DEVELOPMENT OCULAR COLOBOMA AND MICROGNATHIA,Corpus callosum agenesis-abnormal genitalia syndrome,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,Corpus callosum agenesis-neuronopathy syndrome,CORPUS CALLOSUM PARTIAL AGENESIS OF X-LINKED,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 1,CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 10,Cortical dysplasia complex with other brain malformations 11,Cortical dysplasia complex with other brain malformations 12,CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 13,CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 2,CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 3,Cortical dysplasia complex with other brain malformations 4,Cortical dysplasia complex with other brain malformations 5,Cortical dysplasia complex with other brain malformations 6,CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 7,CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 9,Cortical dysplasia-focal epilepsy syndrome,CORTICAL MALFORMATIONS OCCIPITAL,CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY,CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY,CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY,Cortisol-Producing Adrenal Cortex Adenoma,CORTISONE REDUCTASE DEFICIENCY 1,Cortisone reductase deficiency 2,COSTELLO SYNDROME,COUMARIN RESISTANCE,COUSIN SYNDROME,Cousin Syndrome; Craniofacial Dysmorphism Hypoplasia of Scapula and Pelvis and Short Stature,COWDEN SYNDROME,COWDEN SYNDROME 1,COWDEN SYNDROME 4,COWDEN SYNDROME 5,COWDEN SYNDROME 6,COWDEN SYNDROME 7,COX15-related Leigh Syndrome,COX16-related Developmental Disorder,Coxopodopatellar syndrome,CPE-related Prader-Willi-like syndrome,CPSF3-associated neurodevelopmental disorder with seizures and microcephaly,Cramp-fasciculation syndrome,Cranio-cervical dystonia with laryngeal and upper-limb involvement,Craniodiaphyseal dysplasia,CRANIODIAPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT,Cranioectodermal dysplasia,CRANIOECTODERMAL DYSPLASIA 1,Cranioectodermal dysplasia 2,CRANIOECTODERMAL DYSPLASIA 3,Cranioectodermal dysplasia 4,CRANIOECTODERMAL DYSPLASIA TYPE 3,CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME,Craniofacial anomalies corpus callosum dysgenesis ptosis and developmental delay,CRANIOFACIAL DYSMORPHISM SKELETAL ANOMALIES AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1,Craniofacial dysmorphism skeletal anomalies and impaired intellectual development syndrome 2,CRANIOFACIAL DYSMORPHISM SKELETAL ANOMALIES AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,Craniofacial microsomia,Craniofacial Neurological Cardiovascular and Skeletal Features,Craniofacial with neurodevelopment disorders,CRANIOFACIAL-DEAFNESS-HAND SYNDROME,Craniofrontonasal dysplasia,CRANIOFRONTONASAL SYNDROME,CRANIOLENTICULOSUTURAL DYSPLASIA,Craniometaphyseal dysplasia,CRANIOMETAPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT,CRANIOMETAPHYSEAL DYSPLASIA AUTOSOMAL RECESSIVE,CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE,CRANIOOSTEOARTHROPATHY,Craniopharyngioma,Craniorachischisis,CRANIOSYNOSTOSIS 1,CRANIOSYNOSTOSIS 2,Craniosynostosis 3,CRANIOSYNOSTOSIS 4,Craniosynostosis 5 susceptibility to,CRANIOSYNOSTOSIS 6,Craniosynostosis 7,Craniosynostosis and dental anomalies,Craniosynostosis Boston type,CRANIOSYNOSTOSIS TYPE 2,Craniosynostosis-anal anomalies-porokeratosis syndrome,Craniosynostosis-dental anomalies,Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,CRANIOTUBULAR DYSPLASIA IKEGAWA TYPE,CRB1-related Leber Congenital Amaurosis and Retinitis Pigmentosa,CREATINE PHOSPHOKINASE ELEVATED SERUM,CREBBP intellectual disability without typical RTS features,Cree leukoencephalopathy,CREUTZFELDT-JAKOB DISEASE,Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome type 2,CRIGLER-NAJJAR SYNDROME TYPE I,CRIGLER-NAJJAR SYNDROME TYPE II,CRISPONI SYNDROME,Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa,CRISPONI/COLD-INDUCED SWEATING SYNDROME 1,CRISPONI/COLD-INDUCED SWEATING SYNDROME 2,CROUZON SYNDROME,CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS,Crouzon syndrome-acanthosis nigricans syndrome,CRX-Related Leber Congenital Amaurosis Leber congenital amaurosis 7,CRYAB-related Alpha-related B crystallinpathy,CRYOHYDROCYTOSIS,Cryptogenic multifocal ulcerous stenosing enteritis,Cryptophthalmos unilateral or bilateral isolated,Cryptorchidism unilateral or bilateral,CSDE1-associated intellectual disability and autism,CSNK2A1 syndrome,CSNK2B-related developmental disorder monoallelic,CTBP1-related developmental disorder monoallelic,CTCF-related neurodevelopmental disorder,CTNND2-related neurodevelopmental disorder,CUL3-related developmental disorder monoallelic,CULLER-JONES SYNDROME,CURRARINO SYNDROME,Curry-Jones Syndrome,Cushing disease,Cushing syndrome due to bilateral macronodular adrenocortical disease,cutaneous fibrous histiocytoma,Cutaneous mastocytoma,Cutaneous T-cell lymphoma,CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME FAMILIAL,Cutis gyrata Beare stevenson,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,CUTIS LAXA AUTOSOMAL DOMINANT 1,CUTIS LAXA AUTOSOMAL DOMINANT 2,Cutis laxa autosomal dominant 3,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IA,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IB,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IC,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIA,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIB,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIC,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IID,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIE,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIIA,CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIIB,Cutis laxa type I autosomal recessive,Cutis laxa with severe pulmonary gastrointestinal and urinary anomalies,Cutis laxa X linked/Occipital Horn Syndrome,Cutis marmorata telangiectatica congenita,CYANOSIS TRANSIENT NEONATAL,CYCLIC NEUTROPENIA,CYLINDROMATOSIS FAMILIAL,Cystathionine beta-synthase deficiency,CYSTATHIONINURIA,Cystic Fibrosis,Cystic leukoencephalopathy without megalencephaly,CYSTINOSIS ADULT NONNEPHROPATHIC,CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE,CYSTINOSIS NEPHROPATHIC,CYSTINOSIS NEPHROPATHIC TYPE,CYSTINURIA,Cystinuria type A,Cystinuria type B,CYTOCHROME P450 SUBFAMILY I POLYPEPTIDE 2,CYTOCHROME P450 SUBFAMILY IIA POLYPEPTIDE 6,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,CZECH DYSPLASIA,D-2-hydroxyglutaric aciduria,D-2-hydroxyglutaric aciduria 1,D-2-hydroxyglutaric aciduria 2,D-BIFUNCTIONAL PROTEIN DEFICIENCY,D-GLYCERIC ACIDURIA,D-LACTIC ACIDURIA WITH GOUT,Danon disease,DARIER DISEASE,DARIER-WHITE DISEASE,DAW1-associated ciliopathy,DDB1-associated neurodevelopmental syndrome,DDOST-CDG,DDX23-related developmental disorder monoallelic,DDX41-related hematologic malignancy predisposition syndrome,De novo thrombotic microangiopathy after kidney transplantation,De Sanctis-Cacchione syndrome,Deafness aminoglycoside-induced,DEAFNESS AND MYOPIA,DEAFNESS AUTOSOMAL DOMINANT 1 WITH OR WITHOUT THROMBOCYTOPENIA,DEAFNESS AUTOSOMAL DOMINANT 10,DEAFNESS AUTOSOMAL DOMINANT 11,DEAFNESS AUTOSOMAL DOMINANT 12,DEAFNESS AUTOSOMAL DOMINANT 13,DEAFNESS AUTOSOMAL DOMINANT 15,DEAFNESS AUTOSOMAL DOMINANT 17,DEAFNESS AUTOSOMAL DOMINANT 20,DEAFNESS AUTOSOMAL DOMINANT 21,DEAFNESS AUTOSOMAL DOMINANT 22,DEAFNESS AUTOSOMAL DOMINANT 23,DEAFNESS AUTOSOMAL DOMINANT 25,DEAFNESS AUTOSOMAL DOMINANT 27,DEAFNESS AUTOSOMAL DOMINANT 28,DEAFNESS AUTOSOMAL DOMINANT 2A,DEAFNESS AUTOSOMAL DOMINANT 2B,DEAFNESS AUTOSOMAL DOMINANT 34 WITH OR WITHOUT INFLAMMATION,DEAFNESS AUTOSOMAL DOMINANT 36,DEAFNESS AUTOSOMAL DOMINANT 37,DEAFNESS AUTOSOMAL DOMINANT 39 WITH DENTINOGENESIS IMPERFECTA 1,DEAFNESS AUTOSOMAL DOMINANT 3A,DEAFNESS AUTOSOMAL DOMINANT 3B,DEAFNESS AUTOSOMAL DOMINANT 40,DEAFNESS AUTOSOMAL DOMINANT 41,DEAFNESS AUTOSOMAL DOMINANT 44,DEAFNESS AUTOSOMAL DOMINANT 4A,DEAFNESS AUTOSOMAL DOMINANT 4B,Deafness autosomal dominant 5,Deafness autosomal dominant 50,DEAFNESS AUTOSOMAL DOMINANT 56,DEAFNESS AUTOSOMAL DOMINANT 6,DEAFNESS AUTOSOMAL DOMINANT 64,DEAFNESS AUTOSOMAL DOMINANT 65,DEAFNESS AUTOSOMAL DOMINANT 66,DEAFNESS AUTOSOMAL DOMINANT 67,Deafness autosomal dominant 68,DEAFNESS AUTOSOMAL DOMINANT 69,DEAFNESS AUTOSOMAL DOMINANT 7,DEAFNESS AUTOSOMAL DOMINANT 70,DEAFNESS AUTOSOMAL DOMINANT 71,DEAFNESS AUTOSOMAL DOMINANT 72,DEAFNESS AUTOSOMAL DOMINANT 73,DEAFNESS AUTOSOMAL DOMINANT 74,DEAFNESS AUTOSOMAL DOMINANT 75,DEAFNESS AUTOSOMAL DOMINANT 76,DEAFNESS AUTOSOMAL DOMINANT 77,DEAFNESS AUTOSOMAL DOMINANT 78,DEAFNESS AUTOSOMAL DOMINANT 79,DEAFNESS AUTOSOMAL DOMINANT 80,DEAFNESS AUTOSOMAL DOMINANT 81,DEAFNESS AUTOSOMAL DOMINANT 82,DEAFNESS AUTOSOMAL DOMINANT 83,DEAFNESS AUTOSOMAL DOMINANT 84,DEAFNESS AUTOSOMAL DOMINANT 85,DEAFNESS AUTOSOMAL DOMINANT 86,DEAFNESS AUTOSOMAL DOMINANT 87,DEAFNESS AUTOSOMAL DOMINANT 88,DEAFNESS AUTOSOMAL DOMINANT 89,DEAFNESS AUTOSOMAL DOMINANT 9,DEAFNESS AUTOSOMAL DOMINANT TYPE 13,deafness autosomal dominant type 2B,DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1,DEAFNESS AUTOSOMAL RECESSIVE,DEAFNESS AUTOSOMAL RECESSIVE 100,Deafness autosomal recessive 101,Deafness autosomal recessive 102,DEAFNESS AUTOSOMAL RECESSIVE 103,Deafness autosomal recessive 104,DEAFNESS AUTOSOMAL RECESSIVE 106,DEAFNESS AUTOSOMAL RECESSIVE 107,DEAFNESS AUTOSOMAL RECESSIVE 108,DEAFNESS AUTOSOMAL RECESSIVE 109,DEAFNESS AUTOSOMAL RECESSIVE 110,DEAFNESS AUTOSOMAL RECESSIVE 111,DEAFNESS AUTOSOMAL RECESSIVE 112,DEAFNESS AUTOSOMAL RECESSIVE 113,DEAFNESS AUTOSOMAL RECESSIVE 114,DEAFNESS AUTOSOMAL RECESSIVE 115,DEAFNESS AUTOSOMAL RECESSIVE 116,DEAFNESS AUTOSOMAL RECESSIVE 117,DEAFNESS AUTOSOMAL RECESSIVE 119,DEAFNESS AUTOSOMAL RECESSIVE 12,DEAFNESS AUTOSOMAL RECESSIVE 120,DEAFNESS AUTOSOMAL RECESSIVE 15,DEAFNESS AUTOSOMAL RECESSIVE 16,DEAFNESS AUTOSOMAL RECESSIVE 18A,DEAFNESS AUTOSOMAL RECESSIVE 18B,DEAFNESS AUTOSOMAL RECESSIVE 1A,DEAFNESS AUTOSOMAL RECESSIVE 1B,DEAFNESS AUTOSOMAL RECESSIVE 2,DEAFNESS AUTOSOMAL RECESSIVE 21,DEAFNESS AUTOSOMAL RECESSIVE 22,DEAFNESS AUTOSOMAL RECESSIVE 23,Deafness autosomal recessive 24,DEAFNESS AUTOSOMAL RECESSIVE 25,DEAFNESS AUTOSOMAL RECESSIVE 26,DEAFNESS AUTOSOMAL RECESSIVE 26 MODIFIER OF,DEAFNESS AUTOSOMAL RECESSIVE 28,DEAFNESS AUTOSOMAL RECESSIVE 29,DEAFNESS AUTOSOMAL RECESSIVE 3,DEAFNESS AUTOSOMAL RECESSIVE 30,DEAFNESS AUTOSOMAL RECESSIVE 31,DEAFNESS AUTOSOMAL RECESSIVE 32 WITH OR WITHOUT IMMOTILE SPERM,DEAFNESS AUTOSOMAL RECESSIVE 35,DEAFNESS AUTOSOMAL RECESSIVE 36 WITH OR WITHOUT VESTIBULAR INVOLVEMENT,DEAFNESS AUTOSOMAL RECESSIVE 37,DEAFNESS AUTOSOMAL RECESSIVE 39,DEAFNESS AUTOSOMAL RECESSIVE 4 WITH ENLARGED VESTIBULAR AQUEDUCT,Deafness autosomal recessive 42,Deafness autosomal recessive 44,DEAFNESS AUTOSOMAL RECESSIVE 48,DEAFNESS AUTOSOMAL RECESSIVE 49,DEAFNESS AUTOSOMAL RECESSIVE 53,DEAFNESS AUTOSOMAL RECESSIVE 57,DEAFNESS AUTOSOMAL RECESSIVE 59,DEAFNESS AUTOSOMAL RECESSIVE 6,DEAFNESS AUTOSOMAL RECESSIVE 61,DEAFNESS AUTOSOMAL RECESSIVE 63,Deafness autosomal recessive 66,DEAFNESS AUTOSOMAL RECESSIVE 67,Deafness autosomal recessive 68,DEAFNESS AUTOSOMAL RECESSIVE 7,DEAFNESS AUTOSOMAL RECESSIVE 70 WITH OR WITHOUT ADULT-ONSET NEURODEGENERATION,DEAFNESS AUTOSOMAL RECESSIVE 74,DEAFNESS AUTOSOMAL RECESSIVE 76,DEAFNESS AUTOSOMAL RECESSIVE 77,Deafness autosomal recessive 79,Deafness autosomal recessive 8,DEAFNESS AUTOSOMAL RECESSIVE 84A,DEAFNESS AUTOSOMAL RECESSIVE 84B,DEAFNESS AUTOSOMAL RECESSIVE 86,DEAFNESS AUTOSOMAL RECESSIVE 88,DEAFNESS AUTOSOMAL RECESSIVE 89,DEAFNESS AUTOSOMAL RECESSIVE 9,Deafness autosomal recessive 91,DEAFNESS AUTOSOMAL RECESSIVE 93,DEAFNESS AUTOSOMAL RECESSIVE 94,DEAFNESS AUTOSOMAL RECESSIVE 97,DEAFNESS AUTOSOMAL RECESSIVE 98,DEAFNESS AUTOSOMAL RECESSIVE 99,deafness autosomal recessive type 12,DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A,DEAFNESS AUTOSOMAL RECESSIVE TYPE 1B,deafness autosomal recessive type 2,DEAFNESS AUTOSOMAL RECESSIVE TYPE 53,DEAFNESS CATARACT IMPAIRED INTELLECTUAL DEVELOPMENT AND POLYNEUROPATHY,DEAFNESS CONGENITAL AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY,DEAFNESS CONGENITAL HEART DEFECTS AND POSTERIOR EMBRYOTOXON,DEAFNESS CONGENITAL WITH INNER EAR AGENESIS MICROTIA AND MICRODONTIA,DEAFNESS CONGENITAL WITH ONYCHODYSTROPHY AUTOSOMAL DOMINANT,Deafness Dystonia and Central Hypomyelination with Disorganization of the Golgi Apparatus,DEAFNESS DYSTONIA AND CEREBRAL HYPOMYELINATION,Deafness nonsyndromic sensorineural mitochondrial,DEAFNESS ONYCHODYSTROPHY OSTEODYSTROPHY IMPAIRED INTELLECTUAL DEVELOPMENT AND SEIZURES SYNDROME,Deafness with labyrinthine aplasia microtia and microdontia,DEAFNESS X-LINKED 1,DEAFNESS X-LINKED 2,DEAFNESS X-LINKED 4,DEAFNESS X-LINKED 5 WITH PERIPHERAL NEUROPATHY,DEAFNESS X-LINKED 6,DEAFNESS X-LINKED 7,DEAFNESS X-LINKED TYPE 1,Deafness Y-linked 2,Deafness-enamel hypoplasia-nail defects syndrome,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,Deafness-infertility syndrome,Deafness-lymphedema-leukemia syndrome,dedifferentiated chondrosarcoma,Dedifferentiated liposarcoma,Dedifferentiated Solitary Fibrous Tumor,DEEAH SYNDROME,Defect in Cholesterol Biosynthesis,Defects in Neuronal Migration and Axon Guidance,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,DEGCAGS SYNDROME,Dehydrated hereditary stomatocytosis,Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema,Dehydrated hereditary stomatocytosis 2,Dejerine-Sottas syndrome,DELAYED PUBERTY SELF-LIMITED,DELAYED SLEEP PHASE DISORDER SUSCEPTIBILITY TO,Deletion 5q35,DELPIRE-MCNEILL SYNDROME,Delta-beta-thalassemia,Delta-sarcoglycan-related  limb-girdle muscular dystrophy R6,DEMENTIA LEWY BODY,DEND syndrome,DENGUE VIRUS SUSCEPTIBILITY TO DENGUE FEVER SUSCEPTIBILITY TO INCLUDED,Dense deposit disease,Dent disease 1,DENT DISEASE 2,Dent disease type 1,Dent disease type 2,DENTAL ANOMALIES AND SHORT STATURE,Dentatorubral pallidoluysian atrophy,DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY,DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME,Dentin dysplasia type I,Dentin dysplasia type I with microdontia and misshapen teeth,DENTIN DYSPLASIA TYPE II,DENTINOGENESIS IMPERFECTA 1,DENTINOGENESIS IMPERFECTA SHIELDS TYPE II,DENTINOGENESIS IMPERFECTA SHIELDS TYPE III,Dentinogenesis imperfecta type 2,Dentinogenesis imperfecta type 3,DENYS-DRASH SYNDROME,Dermatitis atopic 2,DERMATOFIBROSARCOMA PROTUBERANS,DERMATOPATHIA PIGMENTOSA RETICULARIS,Dermatosparaxis Ehlers-Danlos syndrome,DES-related DCM,DES-related Myofibrillar myopathy,Desanto-shinawi syndrome,DESBUQUOIS DYSPLASIA 1,DESBUQUOIS DYSPLASIA 2,Desbuquois syndrome,Desmin-related myopathy with Mallory body-like inclusions,Desminopathy,DESMOID DISEASE HEREDITARY,Desmoid tumor,Desmoid-type fibromatosis,desmoplastic fibroma,desmoplastic medulloblastoma,Desmoplastic small round cell tumor,Desmoplastic/nodular medulloblastoma,DESMOSTEROLOSIS,Developmental and Epileptic Encephalopathy,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1,Developmental and epileptic encephalopathy 100,Developmental and epileptic encephalopathy 101,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103,Developmental and epileptic encephalopathy 104,Developmental and epileptic encephalopathy 105 with hypopituitarism,Developmental and epileptic encephalopathy 106,Developmental and epileptic encephalopathy 108,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11,Developmental and epileptic encephalopathy 110,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90,Developmental and epileptic encephalopathy 91,Developmental and epileptic encephalopathy 92,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93,Developmental and epileptic encephalopathy 94,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99,Developmental and epileptic encephalopathy-107,Developmental and expressive language delay,Developmental and infantile epileptic encephalopathy,Developmental and speech delay due to SOX5 deficiency,Developmental and Speech Delay Postnatal Microcephaly and Dysmorphic Features,Developmental delay,Developmental delay and distinctive facial features,DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES,DEVELOPMENTAL DELAY BEHAVIORAL ABNORMALITIES AND NEUROPSYCHIATRIC DISORDERS,Developmental Delay Congenital Anomalies and Dysmorphic Features,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,Developmental Delay Epilepsy Cerebellar Atrophy and Osteopenia,Developmental delay hypotonia and autistic features,DEVELOPMENTAL DELAY HYPOTONIA AND IMPAIRED LANGUAGE,DEVELOPMENTAL DELAY HYPOTONIA MUSCULOSKELETAL DEFECTS AND BEHAVIORAL ABNORMALITIES,Developmental delay ID obesity and dysmorphic features,DEVELOPMENTAL DELAY IMPAIRED GROWTH DYSMORPHIC FACIES AND AXONAL NEUROPATHY,DEVELOPMENTAL DELAY IMPAIRED SPEECH AND BEHAVIORAL ABNORMALITIES,DEVELOPMENTAL DELAY IMPAIRED SPEECH AND BEHAVIORAL ABNORMALITIES WITH OR WITHOUT SEIZURES,DEVELOPMENTAL DELAY LANGUAGE IMPAIRMENT AND OCULAR ABNORMALITIES,Developmental delay macrocephaly and dysmorphic features,Developmental delay with autism spectrum disorder and gait instability,DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES,DEVELOPMENTAL DELAY WITH HYPOTONIA MYOPATHY AND BRAIN ABNORMALITIES,DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM,DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES,DEVELOPMENTAL DELAY WITH SHORT STATURE DYSMORPHIC FACIAL FEATURES AND SPARSE HAIR 1,Developmental delay with short stature dysmorphic facial features and sparse hair 2,DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES,DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES,DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,Developmental delays cataracts and craniofacial anomalies,Developmental Disorder with Microcephaly and Congenital Arthrogryposis,Developmental epileptic encephalopathy,Developmental malformations-deafness-dystonia syndrome,DHRS3 related craniosynostosis,DIABETES INSIPIDUS NEPHROGENIC 1 X-LINKED,DIABETES INSIPIDUS NEPHROGENIC 2 AUTOSOMAL,DIABETES INSIPIDUS NEUROHYPOPHYSEAL,Diabetes Mellitus 6q24-Related Transient Neonatal,DIABETES MELLITUS INSULIN-RESISTANT WITH ACANTHOSIS NIGRICANS,Diabetes Mellitus KCNJ11-Related Transient Neonatal,DIABETES MELLITUS KETOSIS-PRONE,DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM,DIABETES MELLITUS PERMANENT NEONATAL 1,DIABETES MELLITUS PERMANENT NEONATAL 2,DIABETES MELLITUS PERMANENT NEONATAL 3,DIABETES MELLITUS PERMANENT NEONATAL 4,Diabetes Mellitus Permanent Neonatal with Cerebellar Agenesis,DIABETES MELLITUS TRANSIENT NEONATAL 1,DIABETES MELLITUS TRANSIENT NEONATAL 2,DIABETES MELLITUS TRANSIENT NEONATAL 3,Diamond-Blackfan anemia,DIAMOND-BLACKFAN ANEMIA 1,DIAMOND-BLACKFAN ANEMIA 10,DIAMOND-BLACKFAN ANEMIA 11,DIAMOND-BLACKFAN ANEMIA 12,Diamond-Blackfan anemia 13,DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS,DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS,Diamond-Blackfan anemia 16,DIAMOND-BLACKFAN ANEMIA 17,DIAMOND-BLACKFAN ANEMIA 18,DIAMOND-BLACKFAN ANEMIA 19,DIAMOND-BLACKFAN ANEMIA 20,Diamond-blackfan anemia 21,DIAMOND-BLACKFAN ANEMIA 3,DIAMOND-BLACKFAN ANEMIA 4,DIAMOND-BLACKFAN ANEMIA 5,DIAMOND-BLACKFAN ANEMIA 6,DIAMOND-BLACKFAN ANEMIA 7,DIAMOND-BLACKFAN ANEMIA 8,DIAMOND-BLACKFAN ANEMIA 9,Diamond-Blackfan anemia with cleft palate and abnormal thumbs,DIAMOND-BLACKFAN ANEMIA-LIKE,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,Diaphanospondylodysostosis,DIAPHRAGMATIC HERNIA 3,Diaphragmatic hernia 4 with cardiovascular defects,Diaphragmatic hernia-short bowel-asplenia syndrome,Diaphyseal medullary stenosis with malignant fibrous histiocytoma,Diaphyseal medullary stenosis-bone malignancy syndrome,DIARRHEA 1 SECRETORY CHLORIDE CONGENITAL,DIARRHEA 10 PROTEIN-LOSING ENTEROPATHY TYPE,DIARRHEA 11 MALABSORPTIVE CONGENITAL,DIARRHEA 12 WITH MICROVILLUS ATROPHY,DIARRHEA 13,DIARRHEA 2 WITH MICROVILLUS ATROPHY WITH OR WITHOUT CHOLESTASIS,DIARRHEA 3 SECRETORY SODIUM CONGENITAL WITH OR WITHOUT OTHER CONGENITAL ANOMALIES,DIARRHEA 4 MALABSORPTIVE CONGENITAL,DIARRHEA 5 WITH TUFTING ENTEROPATHY CONGENITAL,DIARRHEA 6,DIARRHEA 7 PROTEIN-LOSING ENTEROPATHY TYPE,DIARRHEA 8 SECRETORY SODIUM CONGENITAL,DIARRHEA 9,Diastrophic dysplasia,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,Dicarboxylic aminoaciduria,DICER1 Tumor Predisposition,DICER1 tumor-predisposition syndrome,Diencephalic-mesencephalic junction dysplasia,DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1,DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2,Dienoyl-CoA reductase deficiency with hyperlysinemia,DIETS-JONGMANS SYNDROME,Differentiated thyroid carcinoma,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,Diffuse cutaneous systemic sclerosis,diffuse gastric adenocarcinoma,DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME,diffuse large B-cell lymphoma,Diffuse palmoplantar keratoderma with painful fissures,Diffuse panbronchiolitis,Digenic hemochromatosis,DIGEORGE SYNDROME,Digestive System Adenoma,Digestive System Carcinoma,DIGITAL ARTHROPATHY-BRACHYDACTYLY FAMILIAL,DIGITAL CLUBBING ISOLATED CONGENITAL,Dihydrolipoamide Dehydrogenase (E3) Deficiency,DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY,Dihydropteridine reductase deficiency,DIHYDROPYRIMIDINASE DEFICIENCY,DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY,Dihydropyrimidinuria,Dilated cardiomyopathy with ataxia,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY,Disorder of Golgi homeostasis,Disordered cortical neuronal migration,DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY,Disseminated superficial actinic porokeratosis,Distal 16p11.2 microdeletion syndrome,Distal 17p13.3 microdeletion syndrome,Distal 22q11.2 microdeletion syndrome,Distal anoctaminopathy,Distal arthrogryposis,DISTAL ARTHROGRYPOSIS TYPE,Distal arthrogryposis type 1,DISTAL ARTHROGRYPOSIS TYPE 2A,Distal arthrogryposis type 5D,Distal deletion 12p,Distal deletion 15q,Distal deletion 1q,Distal hereditary motor neuropathy,Distal hereditary motor neuropathy Jerash type,Distal hereditary motor neuropathy type 2,Distal hereditary motor neuropathy type 5,Distal hereditary motor neuropathy type 7,Distal myopathy Tateyama type,Distal myopathy Welander type,Distal myopathy with anterior tibial onset,Distal myopathy with posterior leg and anterior hand involvement,Distal myotilinopathy,Distal nebulin myopathy,Distal renal tubular acidosis with anemia,distal renal tubular acidosis with deafness,DISTINCT DNA BREAKAGE SYNDROME,DITRA,DK1-CDG,DKC1-Related Dyskeratosis Congenita,DL-2-hydroxyglutaric aciduria,DLG4 related intellectual disability,DLG5-associated developmental disorder biallelic,DLG5-associated developmental disorder monoallelic,DNA Repair-Proficient Trichothiodystrophy,DNA2-related mitochondrial DNA deletion syndrome,DNAH14-related Neurodevelopmental disorder,DNAJB2-related Charcot-Marie-Tooth disease type 2,DNAJB4-related myopathy with early respiratory failure,DNAJB6-related  limb-girdle muscular dystrophy D1,DNM1-associated microcephaly developmental and epileptic encephalopathy,DNM1L-related developmental disorder monoallelic,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,DOCK2 deficiency,DOHH related neurodevelopmental disorder,Dominant beta-thalassemia,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,DOMINANT LATE-ONSET FUCHS CORNEAL DYSTROPHY,DONNAI-BARROW SYNDROME,DONOHUE SYNDROME,DOORS syndrome,Dopa-Responsive Dystonia,Dopa-responsive dystonia due to sepiapterin reductase deficiency,DOPAMINE BETA-HYDROXYLASE DEFICIENCY,DOWLING-DEGOS DISEASE,DOWLING-DEGOS DISEASE 1,Dowling-Degos disease 2,DOWLING-DEGOS DISEASE 4,DOWN SYNDROME,Doyne honeycomb degeneration of retina,DOYNE HONEYCOMB RETINAL DYSTROPHY,DPAGT1-CDG,DPH5-related neurodevelopmental disorder,DPM1-CDG,DPM3-CDG,DPYSL5-related developmental disorder monoallelic,DRAVET SYNDROME,DRUG METABOLISM ALTERED CES1-RELATEDCARBOXYLESTERASE 1 DEFICIENCY INCLUDED,DRUG METABOLISM ALTERED CYP2C8-RELATED,DRUG METABOLISM POOR CYP2C19-RELATEDMEPHENYTOIN POOR METABOLISM OF INCLUDED,DRUG METABOLISM POOR CYP2D6-RELATED DRUG METABOLISM ULTRARAPID CYP2D6-RELATED INCLUDED,Drug- or toxin-induced pulmonary arterial hypertension,DSC2-related ARVC,DSG2-related ARVC,DSP-related ARVC,DSP-related developmental disorder,Duane retraction syndrome,DUANE RETRACTION SYNDROME 2,Duane retraction syndrome 3,Duane retraction syndrome 3 monoallelic dominant negative,DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS,Duane retraction syndrome with congenital deafness,Duane Syndrome Aberrant Extraocular Muscle Innervation and Inner-Ear Defects,DUANE-RADIAL RAY SYNDROME,DUBIN-JOHNSON SYNDROME,Dubowitz syndrome,Duchenne Muscular Dystrophy,Dworschak-Punetha neurodevelopmental syndrome,DYGGVE-MELCHIOR-CLAUSEN DISEASE,DYGGVE-MELCHIOR-CLAUSEN SYNDROME/SMITH-MCCORT DYSPLASIA,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,DYNC2LI1-related short-rib polydactyly,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,Dysbetalipoproteinemia,DYSCHROMATOSIS SYMMETRICA HEREDITARIA,DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1,Dyschromatosis universalis hereditaria,DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1,Dyschromatosis universalis hereditaria 3,Dysequilibrium syndrome,Dysferlin-related  limb-girdle muscular dystrophy R2,DYSFIBRINOGENEMIA CONGENITALHYPODYSFIBRINOGENEMIA CONGENITAL INCLUDED,Dyskeratosis congenita,Dyskeratosis congenita autosomal dominant,DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 1,DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 2,DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 3,DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 4,DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 6,Dyskeratosis congenita autosomal recessive,DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 1,Dyskeratosis congenita autosomal recessive 2,DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 3,DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 5,DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 6,Dyskeratosis congenita autosomal recessive 8,DYSKERATOSIS CONGENITA DIGENIC,DYSKERATOSIS CONGENITA X-LINKED,DYSKINESIA LIMB AND OROFACIAL INFANTILE-ONSET,DYSKINESIA WITH OROFACIAL INVOLVEMENT AUTOSOMAL DOMINANT,DYSKINESIA WITH OROFACIAL INVOLVEMENT AUTOSOMAL RECESSIVE,DYSLEXIA SUSCEPTIBILITY TO 1,Dysmorphic Features Intellectual Disability and Neurological Manifestations,Dysosteosclerosis,DYSOSTOSIS MULTIPLEX AIN-NAZ TYPE,dysplasia,dysplastic nevus,Dyssegmental dysplasia Silverman-Handmaker type,Dysspondyloenchondromatosis,DYSTONIA 1 TORSION AUTOSOMAL DOMINANT,DYSTONIA 11 MYOCLONIC,DYSTONIA 12,DYSTONIA 16,DYSTONIA 2 TORSION AUTOSOMAL RECESSIVE,DYSTONIA 24,DYSTONIA 25,DYSTONIA 26 MYOCLONIC,DYSTONIA 27,Dystonia 28,DYSTONIA 28 CHILDHOOD-ONSET,DYSTONIA 3 TORSION X-LINKED,DYSTONIA 30,DYSTONIA 31,DYSTONIA 32,DYSTONIA 33,DYSTONIA 34 MYOCLONIC,Dystonia 35 childhood-onset,DYSTONIA 4 TORSION AUTOSOMAL DOMINANT,DYSTONIA 6 TORSION,DYSTONIA 9,Dystonia childhood-onset with optic atrophy and basal ganglia abnormalities,DYSTONIA DOPA-RESPONSIVE,DYSTONIA DOPA-RESPONSIVE DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY,DYSTONIA EARLY-ONSET AND/OR SPASTIC PARAPLEGIA,DYSTONIA JUVENILE-ONSET,DYSTONIA TYPE 5,Dystonia-parkinsonism-hypermanganesemia syndrome,DYSTROPHIA MYOTONICA TYPE 1,Dystrophic epidermolysis bullosa pruriginosa,Ear-patella-short stature syndrome,Early infantile epileptic encephalopathy,Early infantile epileptic encephalopathy 12,Early infantile epileptic encephalopathy 13,EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY,Early myoclonic encephalopathy,Early onset epileptic encephalopathy,Early Onset Isolated Mitochondrial Complex I Deficiency,Early-onset anterior polar cataract,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome,Early-onset autosomal dominant Alzheimer disease,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,Early-Onset Epilepsy,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,Early-Onset epileptic encephalopathy with persistent myelination defect.,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,Early-onset familial hypoaldosteronism,Early-onset generalized limb-onset dystonia,Early-onset Lafora body disease,Early-onset lamellar cataract,Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria,Early-onset myopathy with fatal cardiomyopathy,Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,Early-Onset Neurodegenerative Encephalopathy,Early-onset nuclear cataract,Early-onset oculopharyngeal muscular dystrophy,Early-onset parkinsonism-intellectual disability syndrome,Early-onset posterior polar cataract,Early-onset posterior subcapsular cataract,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,EARLY-ONSET RECESSIVE OPTIC NEUROPATHY,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,Early-Onset Severe Encephalopathy,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,Early-onset sutural cataract,EAST syndrome,East Texas bleeding disorder,Ebstein malformation of the tricuspid valve,Ectodermal dysplasia + skin fragility McGrath syndrome,ECTODERMAL DYSPLASIA 1 HYPOHIDROTIC X-LINKED,ECTODERMAL DYSPLASIA 10A HYPOHIDROTIC/HAIR/NAIL TYPE AUTOSOMAL DOMINANT,Ectodermal dysplasia 10B hypohidrotic/hair/tooth type autosomal recessive,ECTODERMAL DYSPLASIA 11A HYPOHIDROTIC/HAIR/TOOTH TYPE AUTOSOMAL DOMINANT,Ectodermal dysplasia 11b hypohidrotic/hair/tooth type autosomal recessive,ECTODERMAL DYSPLASIA 12 HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE,ECTODERMAL DYSPLASIA 13 HAIR/TOOTH TYPE,ECTODERMAL DYSPLASIA 14 HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS,ECTODERMAL DYSPLASIA 15 HYPOHIDROTIC/HAIR TYPE,Ectodermal dysplasia 2 Clouston type,Ectodermal dysplasia 4 hair/nail type,Ectodermal dysplasia 7 hair/nail type,ECTODERMAL DYSPLASIA 9 HAIR/NAIL TYPE,ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1,ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2,Ectodermal dysplasia anhidrotic with immunodeficiency X-linked,Ectodermal dysplasia cleft lip/palate,Ectodermal dysplasia dominant,ECTODERMAL DYSPLASIA ECTRODACTYLY AND MACULAR DYSTROPHY SYNDROME,Ectodermal dysplasia hidrotic Clouston,Ectodermal dysplasia hypohidrotic with immune deficiency,Ectodermal dysplasia pure hair/nail type,ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE,Ectodermal dysplasia recessive,ectodermal dysplasia type 1,ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL OCULAR AND BRAIN ANOMALIES,Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome,ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1,Ectodermal dysplasia/short stature syndrome,ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME,ECTOPIA LENTIS 1 ISOLATED AUTOSOMAL DOMINANT,ECTOPIA LENTIS 2 ISOLATED AUTOSOMAL RECESSIVE,ECTOPIA LENTIS ET PUPILLAE,Ectopia lentis isolated autosomal recessive,ECTRODACTYLY ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE SYNDROME 3,ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3,ECULIZUMAB POOR RESPONSE TO,EDEM3-related congenital disorder of glycosylation,EDICT syndrome,EEC syndrome,EEF2-related developmental disorder monoallelic,EEM syndrome,EFAVIRENZ POOR METABOLISM OF EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY SUSCEPTIBILITY TO INCLUDED,EGF-related primary hypomagnesemia with intellectual disability,Ehlers Danlos cardiac valvular form,EHLERS-DANLOS SYNDROME ARTHROCHALASIA TYPE 1,EHLERS-DANLOS SYNDROME ARTHROCHALASIA TYPE 2,Ehlers-Danlos syndrome cardiac valvular type,Ehlers-Danlos syndrome classic type,EHLERS-DANLOS SYNDROME CLASSIC TYPE 1,EHLERS-DANLOS SYNDROME CLASSIC TYPE 2,EHLERS-DANLOS SYNDROME CLASSIC TYPE COL1A1-RELATED,EHLERS-DANLOS SYNDROME CLASSIC-LIKE,EHLERS-DANLOS SYNDROME CLASSIC-LIKE 2,EHLERS-DANLOS SYNDROME DERMATOSPARAXIS TYPE,Ehlers-Danlos Syndrome Kyphoscoliotic Form,EHLERS-DANLOS SYNDROME KYPHOSCOLIOTIC TYPE 1,EHLERS-DANLOS SYNDROME KYPHOSCOLIOTIC TYPE 2,EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE,EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 1,EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 2,EHLERS-DANLOS SYNDROME PERIODONTAL TYPE 1,EHLERS-DANLOS SYNDROME PERIODONTAL TYPE 2,EHLERS-DANLOS SYNDROME PROGEROID TYPE,EHLERS-DANLOS SYNDROME SPONDYLODYSPLASTIC TYPE 1,EHLERS-DANLOS SYNDROME SPONDYLODYSPLASTIC TYPE 2,EHLERS-DANLOS SYNDROME SPONDYLODYSPLASTIC TYPE 3,EHLERS-DANLOS SYNDROME TYPE 4,EHLERS-DANLOS SYNDROME TYPE VIIA,Ehlers-Danlos syndrome vascular type,Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss,Ehlers-Danlos syndrome with short stature and limb anomalies,EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA,Ehlers-Danlos/osteogenesis imperfecta syndrome,EHMT1-LIKE INTELLECTUAL DISABILITY,EHMT1-like SYNDROME,EIF2AK1-associated Neurodevelopmental Syndrome,EIF2AK2-associated Developmental Delay Leukoencephalopathy and Neurologic Decompensation,EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER,EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER,EIF3F related developmental disorder,EIF5A-related craniofacial-neurodevelopmental disorder,EIKEN SYNDROME,ELANE-Related Neutropenia,ELFN1-related intellectual disability and epilepsy,ELLIPTOCYTOSIS 1,ELLIPTOCYTOSIS 2,ELLIPTOCYTOSIS 3,Ellis Van Creveld syndrome,ELLIS-VAN CREVELD SYNDROME,ELN-Related Cutis Laxa,ELSAHY-WATERS SYNDROME,Emberger syndrome,embryonal rhabdomyosarcoma,EMC10-related neurodevelopmental disorder,EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LINKED,EMERY-DREIFUSS MUSCULAR DYSTROPHY 2 AUTOSOMAL DOMINANT,EMERY-DREIFUSS MUSCULAR DYSTROPHY 3 AUTOSOMAL RECESSIVE,Emery-Dreifuss muscular dystrophy 4 autosomal dominant,Emery-dreifuss muscular dystrophy 5 autosomal dominant,Emery-Dreifuss muscular dystrophy 6 X-linked,EMERY-DREIFUSS MUSCULAR DYSTROPHY 7 AUTOSOMAL DOMINANT,Emery-Dreifuss muscular dystrophy type 2,EMILIN-1-related connective tissue disease,Enamel-renal syndrome,ENCEPHALITIS ACUTE INFECTION (VIRAL)-INDUCED SUSCEPTIBILITY TO 11,ENCEPHALITIS/ENCEPHALOPATHY MILD WITH REVERSIBLE MYELIN VACUOLIZATION,Encephalocraniocutaneous lipomatosis,ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 1,ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 10,ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 5,ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 6,ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 7,ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 8,ENCEPHALOPATHY ACUTE INFECTION-INDUCED SUSCEPTIBILITY TO 3,ENCEPHALOPATHY ACUTE INFECTION-INDUCED SUSCEPTIBILITY TO 4,ENCEPHALOPATHY ACUTE INFECTION-INDUCED SUSCEPTIBILITY TO 9,Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect,ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1,ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2,Encephalopathy due to prosaposin deficiency,ENCEPHALOPATHY ETHYLMALONIC,ENCEPHALOPATHY FAMILIAL WITH NEUROSERPIN INCLUSION BODIES,ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS,ENCEPHALOPATHY NEONATAL SEVERE WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES,ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN ATROPHY AND SPASTICITY,ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM,ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 1,ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 2,ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH EPISODIC RHABDOMYOLYSIS,ENCEPHALOPATHY PROGRESSIVE WITH AMYOTROPHY AND OPTIC ATROPHY,Encephalopathy progressive with or without lipodystrophy,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,Endocrine-cerebro-osteodysplasia syndrome,ENDOCRINE-CEREBROOSTEODYSPLASIA,endodermal sinus tumor,Endolymphatic Sac Tumor,Endometrial Cancer,ENDOMETRIAL CANCER FAMILIAL,Endometrial carcinoma,Endometrial Cyst,Endometrial Endometrioid Adenocarcinoma,Endometrial Hyperplasia without Atypia,Endometrial Intraepithelial Neoplasia,Endometrial Mucinous Adenocarcinoma,Endometrial Polyp,Endometrial Squamous Cell Carcinoma,Endometrial stromal sarcoma,endometrium adenocarcinoma,Endosteal Hyperostosis and Oligodontia,ENDOSTEAL HYPEROSTOSIS AUTOSOMAL DOMINANT,ENDOSTEAL HYPEROSTOSIS WORTH TYPE,Endosteal sclerosis-cerebellar hypoplasia syndrome,ENDOVE SYNDROME LIMB-BRAIN TYPE,Enhanced Growth and Connective Tissue Abnormalities,ENHANCED S-CONE SYNDROME,Enlarged parietal foramina,Enlarged Parietal Foramina/Cranium Bifidum,Enteric anendocrinosis,ENTEROKINASE DEFICIENCY,EOSINOPHIL PEROXIDASE DEFICIENCY,Ependymoma,EPHB4-related lymphatic-related hydrops fetalis,EPIDERMODYSPLASIA VERRUCIFORMIS,EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 1,EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 2,EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 3,EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 4,EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 5,Epidermolysis Bullosa Bart Type,Epidermolysis bullosa dystrophica AR,EPIDERMOLYSIS BULLOSA DYSTROPHICA AUTOSOMAL DOMINANT,EPIDERMOLYSIS BULLOSA DYSTROPHICA AUTOSOMAL RECESSIVE,Epidermolysis Bullosa Dystrophica dominant,EPIDERMOLYSIS BULLOSA DYSTROPHICA PRETIBIAL,Epidermolysis Bullosa Dystrophica recessive,Epidermolysis Bullosa Junctional,EPIDERMOLYSIS BULLOSA JUNCTIONAL 1A INTERMEDIATE,EPIDERMOLYSIS BULLOSA JUNCTIONAL 1B SEVERE,EPIDERMOLYSIS BULLOSA JUNCTIONAL 2A INTERMEDIATE,EPIDERMOLYSIS BULLOSA JUNCTIONAL 2B SEVERE,EPIDERMOLYSIS BULLOSA JUNCTIONAL 2C LARYNGOONYCHOCUTANEOUS,EPIDERMOLYSIS BULLOSA JUNCTIONAL 3A INTERMEDIATE,EPIDERMOLYSIS BULLOSA JUNCTIONAL 3B SEVERE,EPIDERMOLYSIS BULLOSA JUNCTIONAL 4 INTERMEDIATE,EPIDERMOLYSIS BULLOSA JUNCTIONAL 5A INTERMEDIATE,EPIDERMOLYSIS BULLOSA JUNCTIONAL 5B WITH PYLORIC ATRESIA,EPIDERMOLYSIS BULLOSA JUNCTIONAL 6 WITH PYLORIC ATRESIA,EPIDERMOLYSIS BULLOSA JUNCTIONAL 7 WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME,Epidermolysis Bullosa Junctional atrophic benign,Epidermolysis Bullosa Junctional lethal Herlitz,EPIDERMOLYSIS BULLOSA LETHAL ACANTHOLYTIC,EPIDERMOLYSIS BULLOSA PRURIGINOSA,EPIDERMOLYSIS BULLOSA SIMPLEX 1A GENERALIZED SEVERE,EPIDERMOLYSIS BULLOSA SIMPLEX 1B GENERALIZED INTERMEDIATE,EPIDERMOLYSIS BULLOSA SIMPLEX 1C LOCALIZED,EPIDERMOLYSIS BULLOSA SIMPLEX 1D GENERALIZED INTERMEDIATE OR SEVERE AUTOSOMAL RECESSIVE,EPIDERMOLYSIS BULLOSA SIMPLEX 2A GENERALIZED SEVERE,Epidermolysis bullosa simplex 2B generalized intermediate,Epidermolysis bullosa simplex 2C localized,EPIDERMOLYSIS BULLOSA SIMPLEX 2D GENERALIZED INTERMEDIATE OR SEVERE AUTOSOMAL RECESSIVE,EPIDERMOLYSIS BULLOSA SIMPLEX 2E WITH MIGRATORY CIRCINATE ERYTHEMA,EPIDERMOLYSIS BULLOSA SIMPLEX 2F WITH MOTTLED PIGMENTATION,EPIDERMOLYSIS BULLOSA SIMPLEX 3 LOCALIZED OR GENERALIZED INTERMEDIATE WITH BP230 DEFICIENCY,EPIDERMOLYSIS BULLOSA SIMPLEX 4 LOCALIZED OR GENERALIZED INTERMEDIATE AUTOSOMAL RECESSIVE,EPIDERMOLYSIS BULLOSA SIMPLEX 5A OGNA TYPE,EPIDERMOLYSIS BULLOSA SIMPLEX 5B WITH MUSCULAR DYSTROPHY,EPIDERMOLYSIS BULLOSA SIMPLEX 5C WITH PYLORIC ATRESIA,EPIDERMOLYSIS BULLOSA SIMPLEX 5D GENERALIZED INTERMEDIATE AUTOSOMAL RECESSIVE,EPIDERMOLYSIS BULLOSA SIMPLEX 7 WITH NEPHROPATHY AND DEAFNESS,Epidermolysis Bullosa Simplex and limb-girdle muscular dystrophy,Epidermolysis bullosa simplex due to BP230 deficiency,Epidermolysis bullosa simplex due to exophilin 5 deficiency,Epidermolysis Bullosa Simplex generalised intermediate Kobner,Epidermolysis Bullosa Simplex generalised severe Dowling - Meara,Epidermolysis Bullosa Simplex localised Weber Cockayne,Epidermolysis Bullosa Simplex Mottled pigmentation,Epidermolysis Bullosa Simplex Ogna,Epidermolysis Bullosa Simplex recessive,Epidermolysis Bullosa Simplex Weber Cockayne,Epidermolysis bullosa simplex with circinate migratory erythema,EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION,EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY,EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA,EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS,Epidermolysis Bullosa with Pyloric Atresia,EPIDERMOLYTIC HYPERKERATOSIS 1,EPIDERMOLYTIC HYPERKERATOSIS 2,Epidermolytic palmoplantar keratoderma,Epilepsy and intellectual disability,EPILEPSY CHILDHOOD ABSENCE SUSCEPTIBILITY TO 5,EPILEPSY CHILDHOOD ABSENCE SUSCEPTIBILITY TO 6,EPILEPSY EARLY-ONSET VITAMIN B6-DEPENDENT,EPILEPSY EARLY-ONSET WITH OR WITHOUT DEVELOPMENTAL DELAY,EPILEPSY FAMILIAL ADULT MYOCLONIC 1,EPILEPSY FAMILIAL ADULT MYOCLONIC 2,EPILEPSY FAMILIAL ADULT MYOCLONIC 3,EPILEPSY FAMILIAL ADULT MYOCLONIC 4,Epilepsy familial adult myoclonic 5,EPILEPSY FAMILIAL ADULT MYOCLONIC 6,EPILEPSY FAMILIAL ADULT MYOCLONIC 7,EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 1,EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 2,EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3,EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 4,EPILEPSY FAMILIAL TEMPORAL LOBE 1,EPILEPSY FAMILIAL TEMPORAL LOBE 5,EPILEPSY FAMILIAL TEMPORAL LOBE 7,EPILEPSY FAMILIAL TEMPORAL LOBE 8,EPILEPSY FOCAL WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT,EPILEPSY FOCAL WITH SPEECH DISORDER AND WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER,Epilepsy generalized with febrile seizures plus type 3,EPILEPSY HEARING LOSS AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 10,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 11,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 12,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 13,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 14,Epilepsy idiopathic generalized susceptibility to 15,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 16,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 17,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 18,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 8,EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 9,EPILEPSY JUVENILE ABSENCE SUSCEPTIBILITY TO 1,EPILEPSY JUVENILE MYOCLONIC SUSCEPTIBILITY TO 10,EPILEPSY MYOCLONIC JUVENILE,EPILEPSY NOCTURNAL FRONTAL LOBE 1,EPILEPSY NOCTURNAL FRONTAL LOBE 3,EPILEPSY NOCTURNAL FRONTAL LOBE 4,EPILEPSY NOCTURNAL FRONTAL LOBE 5,Epilepsy progressive myoclonic 10,EPILEPSY PROGRESSIVE MYOCLONIC 11,EPILEPSY PROGRESSIVE MYOCLONIC 12,EPILEPSY PROGRESSIVE MYOCLONIC 3 WITH OR WITHOUT INTRACELLULAR INCLUSIONS,Epilepsy progressive myoclonic 4 with or without renal failure,EPILEPSY PROGRESSIVE MYOCLONIC 6,Epilepsy progressive myoclonic 7,EPILEPSY PROGRESSIVE MYOCLONIC 8,Epilepsy progressive myoclonic 9,EPILEPSY PYRIDOXINE-DEPENDENT,EPILEPSY ROLANDIC WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP,Epilepsy with myoclonic absences,Epilepsy with myoclonic-Atonic seizures,EPILEPSY X-LINKED 1 WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS,Epilepsy X-linked 2 with or without impaired intellectual development and dysmorphic features,EPILEPSY X-LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS,Epileptic encephalopathy,Epileptic Encephalopathy due to congenital disorder of glycosylation,Epileptic encephalopathy early infantile,EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 23,EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 24,Epileptic encephalopathy early infantile 26,EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 28,EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 3,EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2,EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4,EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7,EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9,EPILEPTIC ENCEPHALOPATHY Gain-of-function,EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 3,Epileptic encephalopathy Lennox-Gastaut type,EPILEPTIC ENCEPHALOPATHY Loss-of-function,Epileptic encephalopathy with complex movement disorder and regression,Epileptic encephalopathy with continuous spike-and-wave during sleep,Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesia,Epileptic encephalopathy with global cerebral demyelination,Epileptic Encephalopathy with Optic Atrophy,Epileptic Encephalopathy with Seizure Onset in the First Days of Life,Epimerase-deficiency galactosemia,Epiphyseal chondrodysplasia miura type,EPIPHYSEAL DYSPLASIA MULTIPLE 1,EPIPHYSEAL DYSPLASIA MULTIPLE 2,EPIPHYSEAL DYSPLASIA MULTIPLE 3,EPIPHYSEAL DYSPLASIA MULTIPLE 4,EPIPHYSEAL DYSPLASIA MULTIPLE 5,EPIPHYSEAL DYSPLASIA MULTIPLE 6,EPIPHYSEAL DYSPLASIA MULTIPLE 7,EPIPHYSEAL DYSPLASIA MULTIPLE WITH EARLY-ONSET DIABETES MELLITUS,Epiphyseal dysplasia multiple with myopia and conductive deafness,Episodes of Liver Failure Peripheral Neuropathy Cerebellar Atrophy and Ataxia,Episodic ataxia type 1,EPISODIC ATAXIA TYPE 2,Episodic ataxia type 5,Episodic ataxia type 6,EPISODIC ATAXIA TYPE 9,EPISODIC KINESIGENIC DYSKINESIA 1,Episodic kinesigenic dyskinesia 3,EPISODIC PAIN SYNDROME FAMILIAL,EPISODIC PAIN SYNDROME FAMILIAL 1,EPISODIC PAIN SYNDROME FAMILIAL 2,Episodic pain syndrome familial 3,Epithelial basement membrane dystrophy,epithelial neoplasm,Epithelial recurrent erosion dystrophy,Epithelioid hemangioendothelioma,Epithelioma Ferguson-Smith multiple self healing squamous epithelioma,EPSTEIN SYNDROME,EPT1-related complex progressive hereditary spastic paraplegia,ERYTHERMALGIA PRIMARY,ERYTHROCYTE AMP DEAMINASE DEFICIENCY,Erythrocyte galactose epimerase deficiency,ERYTHROCYTE LACTATE TRANSPORTER DEFECT,ERYTHROCYTOSIS FAMILIAL 1,ERYTHROCYTOSIS FAMILIAL 2,ERYTHROCYTOSIS FAMILIAL 3,ERYTHROCYTOSIS FAMILIAL 4,ERYTHROCYTOSIS FAMILIAL 5,ERYTHROCYTOSIS FAMILIAL 6,ERYTHROCYTOSIS FAMILIAL 7,ERYTHROCYTOSIS FAMILIAL 8,Erythroderma congenital with palmoplantar keratoderma hypotrichosis and hyper-ige,Erythrokeratodermia variabilis,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7,Erythrokeratodermia-cardiomyopathy syndrome,ERYTHROLEUKEMIA FAMILIAL SUSCEPTIBILITY TO,Erythromelalgia primary,ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA SUSCEPTIBILITY TO INCLUDED,Essential fructosuria,Essential thrombocythemia,ESTROGEN RESISTANCE,Estrogen resistance syndrome,Ethylmalonic encephalopathy,Euthyroid dysprealbuminemic hyperthyroxinemia,EVEN-PLUS SYNDROME,Ewing sarcoma,EXERCISE INTOLERANCE RIBOFLAVIN-RESPONSIVE,Exercise-induced hyperinsulinism,Exercise-induced malignant hyperthermia,Exfoliation syndrome,Exfoliative ichthyosis,Exfoliative ichthyosis autosomal recessive ichthyosis bullosa of Siemens-like,EXOCRINE PANCREATIC INSUFFICIENCY DYSERYTHROPOIETIC ANEMIA AND CALVARIAL HYPEROSTOSIS,EXOSC2-associated short stature hearing loss retinitis pigmentosa and distinctive facies syndrome,Exostoses multiple type 1,Exostoses multiple type 2,EXOSTOSES MULTIPLE TYPE I,EXOSTOSES MULTIPLE TYPE II,External auditory canal aplasia/hypoplasia,External Ophthalmoplegia Rib and Vertebral Anomalies,extra-adrenal sympathetic paraganglioma,Extrahepatic Bile Duct Adenosquamous Carcinoma,Extrahepatic Bile Duct Squamous Cell Carcinoma,EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY,Extraskeletal Ewing sarcoma,Extraskeletal myxoid chondrosarcoma,EXTREME MYOPIA;MYOPIA 23 AUTOSOMAL RECESSIVE,EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE,Exudative vitreoretinopathy,EXUDATIVE VITREORETINOPATHY 1,EXUDATIVE VITREORETINOPATHY 2 X-LINKED,Exudative vitreoretinopathy 4,EXUDATIVE VITREORETINOPATHY 5,Exudative vitreoretinopathy 6,EXUDATIVE VITREORETINOPATHY 7,F12-associated cold autoinflammatory syndrome,F12-related hereditary angioedema with normal C1Inh,FABRY DISEASE,FACIAL CLEFTING OBLIQUE 1,Facial dysmorphism hypertrichosis epilepsy intellectual disability/developmental delay and gingival overgrowth,FACIAL DYSMORPHISM HYPERTRICHOSIS EPILEPSY INTELLECTUAL/DEVELOPMENTAL DELAY AND GINGIVAL OVERGROWTH SYNDROME,FACIAL DYSMORPHISM IMMUNODEFICIENCY LIVEDO AND SHORT STATURE,FACIAL DYSMORPHISM LENS DISLOCATION ANTERIOR SEGMENT ABNORMALITIES AND SPONTANEOUS FILTERING BLEBS,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,FACIAL PALSY CONGENITAL WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION,FACIAL PARESIS HEREDITARY CONGENITAL 3,Facioscapulohumeral dystrophy,FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1,FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 DIGENIC,FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3 DIGENIC,FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4 DIGENIC,FACTOR V AND FACTOR VIII COMBINED DEFICIENCY OF 1,FACTOR V AND FACTOR VIII COMBINED DEFICIENCY OF 2,FACTOR V DEFICIENCY,FACTOR VII DEFICIENCY,FACTOR X DEFICIENCY,FACTOR XI DEFICIENCY,FACTOR XII DEFICIENCY,FACTOR XIII A SUBUNIT DEFICIENCY OF,FACTOR XIII B SUBUNIT DEFICIENCY OF,FADD-related immunodeficiency,FAILURE OF TOOTH ERUPTION PRIMARY,Familial abdominal aortic aneurysm,Familial acute necrotizing encephalopathy,Familial adenomatous polyposis 1,FAMILIAL ADENOMATOUS POLYPOSIS 2,FAMILIAL ADENOMATOUS POLYPOSIS 3,FAMILIAL ADENOMATOUS POLYPOSIS 4,Familial adenomatous polyposis due to 5q22.2 microdeletion,FAMILIAL ADVANCED SLEEP-PHASE SYNDROME,Familial afibrinogenemia,Familial Alzheimer-like prion disease,Familial aortic dissection,Familial apolipoprotein A5 deficiency,Familial apolipoprotein C-II deficiency,Familial atrial fibrillation,Familial atrial myxoma,Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,Familial atypical multiple mole melanoma syndrome,Familial avascular necrosis of femoral head,Familial benign chronic pemphigus,Familial benign flecked retina,Familial bicuspid aortic valve,Familial calcium pyrophosphate deposition,Familial cavitary optic disc anomaly,Familial cerebral cavernous malformation,Familial cerebral saccular aneurysm,Familial Chilblain lupus,Familial clubfoot due to 17q23.1q23.2 microduplication,Familial clubfoot due to 5q31 microdeletion,Familial clubfoot due to PITX1 point mutation,Familial cold autoinflammatory syndrome,FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1,FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2,FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3,Familial cold autoinflammatory syndrome 4,Familial cold urticaria,Familial colorectal cancer Type X,Familial congenital mirror movements,Familial congenital nasolacrimal duct obstruction,Familial cortical myoclonus,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,Familial cylindromatosis,Familial Diarrhea DIARRHEA 6,Familial digital arthropathy-brachydactyly,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,Familial drusen,Familial dysautonomia,Familial dysfibrinogenemia,Familial dyskinesia and facial myokymia,Familial episodic pain syndrome with predominantly lower limb involvement,Familial episodic pain syndrome with predominantly upper body involvement,FAMILIAL EXPANSILE OSTEOLYSIS,Familial exudative vitreoretinopathy,FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI,Familial gastric type 1 neuroendocrine tumor,Familial generalized lentiginosis,Familial gestational hyperthyroidism,FAMILIAL GIST,FAMILIAL GIST GASTRO-INTESTINAL STROMAL TUMOURS,Familial glucocorticoid deficiency,Familial GPIHBP1 deficiency,Familial hemophagocytic lymphohistiocytosis,Familial Horizontal Gaze Palsy with Progressive Scoliosis,Familial hyperaldosteronism type I,Familial hyperaldosteronism type II,Familial hyperaldosteronism type III,Familial hypercholanemia,Familial hyperinflammatory lymphoproliferative immunodeficiency,familial hyperinsulinism,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,Familial hyperprolactinemia,Familial hyperthyroidism due to mutations in TSH receptor,Familial hypocalciuric hypercalcemia type 1,Familial hypocalciuric hypercalcemia type 2,Familial hypocalciuric hypercalcemia type 3,Familial hypodysfibrinogenemia,Familial hypofibrinogenemia,Familial infantile bilateral striatal necrosis,Familial infantile myoclonic epilepsy,Familial Infantile Myofibromatosis,Familial isolated arrhythmogenic ventricular dysplasia biventricular form,Familial isolated arrhythmogenic ventricular dysplasia left dominant form,Familial isolated arrhythmogenic ventricular dysplasia right dominant form,Familial isolated congenital asplenia,Familial isolated dilated cardiomyopathy,Familial isolated hyperparathyroidism,Familial Isolated Hypoparathyroidism,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,Familial isolated hypoparathyroidism due to impaired PTH secretion,Familial isolated pituitary adenoma,Familial isolated restrictive cardiomyopathy,Familial isolated trichomegaly,Familial LCAT deficiency,Familial lipase maturation factor 1 deficiency,Familial lipoprotein lipase deficiency,FAMILIAL MEDITERRANEAN FEVER,FAMILIAL MEDITERRANEAN FEVER AUTOSOMAL DOMINANT,Familial medullary thyroid carcinoma,Familial melanoma,Familial mesial temporal lobe epilepsy with febrile seizures,Familial mitral valve prolapse,Familial multinodular goiter,Familial multiple meningioma,Familial multiple nevi flammei,Familial multiple trichoepithelioma,Familial normophosphatemic tumoral calcinosis,Familial or sporadic hemiplegic migraine,Familial osteochondritis dissecans,Familial pancreatic carcinoma,Familial papillary or follicular thyroid carcinoma,Familial paroxysmal ataxia,Familial partial lipodystrophy Dunnigan type,Familial partial lipodystrophy Kobberling type,FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2,Familial patent arterial duct,Familial peripheral male-limited precocious puberty,Familial platelet disorder with associated myeloid malignancy,Familial porencephaly,Familial porphyria cutanea tarda,Familial primary localized cutaneous amyloidosis,Familial progressive cardiac conduction defect,Familial progressive hyper- and hypopigmentation,Familial progressive hyperpigmentation,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,Familial prostate cancer,Familial pseudohyperkalemia,Familial renal glucosuria,Familial retinal arterial macroaneurysm,Familial scaphocephaly syndrome McGillivray type,Familial schizencephaly,FAMILIAL SCHIZENCEPHALY EMX2-RELATED,Familial short QT syndrome,Familial sick sinus syndrome,Familial spontaneous pneumothorax,Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,Familial Sturge-Weber syndrome,Familial thoracic aortic aneurysm and aortic dissection,Familial thrombocytosis,Familial thyroid dyshormonogenesis,Familial vesicoureteral reflux,Familial visceral myopathy,FAMILIAL WILMS TUMOUR,FANCB-Related Fanconi Anemia,FANCM-Related Fanconi Anemia,Fanconi anemia,Fanconi anemia complementation group 0,FANCONI ANEMIA COMPLEMENTATION GROUP A,FANCONI ANEMIA COMPLEMENTATION GROUP B,Fanconi anemia complementation group C,FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1,FANCONI ANEMIA COMPLEMENTATION GROUP D1,FANCONI ANEMIA COMPLEMENTATION GROUP D2,FANCONI ANEMIA COMPLEMENTATION GROUP E,FANCONI ANEMIA COMPLEMENTATION GROUP F,FANCONI ANEMIA COMPLEMENTATION GROUP G,Fanconi anemia complementation group I,FANCONI ANEMIA COMPLEMENTATION GROUP J,FANCONI ANEMIA COMPLEMENTATION GROUP L,FANCONI ANEMIA COMPLEMENTATION GROUP N,Fanconi anemia complementation group O,FANCONI ANEMIA COMPLEMENTATION GROUP P,Fanconi anemia complementation group Q,FANCONI ANEMIA COMPLEMENTATION GROUP R,FANCONI ANEMIA COMPLEMENTATION GROUP S,Fanconi anemia complementation group T,Fanconi anemia complementation group U,FANCONI ANEMIA COMPLEMENTATION GROUP V,FANCONI ANEMIA COMPLEMENTATION GROUP W,Fanconi pancytopaenia B,Fanconi pancytopaenia G,Fanconi pancytopaenia H,Fanconi renotubular syndrome 1,FANCONI RENOTUBULAR SYNDROME 2,FANCONI RENOTUBULAR SYNDROME 3,Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,FANCONI RENOTUBULAR SYNDROME 5,FANCONI-BICKEL SYNDROME,Farber disease,Farber lipogranulomatosis,FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5,FASTKD2-related infantile mitochondrial encephalomyopathy,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,Fatal encephalopathy lactic acidosis and severe mtDNA depletion in muscle,FATAL FAMILIAL INSOMNIA,Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency,Fatal infantile cytochrome C oxidase deficiency,Fatal infantile hypertonic myofibrillar myopathy,Fatal Infantile Lactic Acidosis,Fatal infantile lactic acidosis with methylmalonic aciduria,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,Fatal post-viral neurodegenerative disorder,Fatty acid hydroxylase-associated neurodegeneration,Fatty acyl-CoA reductase 1 deficiency,FATTY LIVER DISEASE PROTECTION FROM,FAUNDES-BANKA SYNDROME,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,FBX028-related developmental and epileptic encephalopathy with profound intellectual disability,FBXW7-related developmental disorder monoallelic,FEBRILE SEIZURES FAMILIAL 11,FEBRILE SEIZURES FAMILIAL 4,FEBRILE SEIZURES FAMILIAL 8,FEINGOLD SYNDROME,FEINGOLD SYNDROME 1,Feingold syndrome type 1,Feingold syndrome type 2,FEM1C-related developmental disorder,Female infertility due to an implantation defect of genetic origin,Female infertility due to oocyte meiotic arrest,Female infertility due to zona pellucida defect,Female restricted epilepsy with intellectual disability,FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME,Ferro-cerebro-cutaneous syndrome,Ferroportin Disease,FETAL AKINESIA DEFORMATION SEQUENCE,FETAL AKINESIA DEFORMATION SEQUENCE 1,FETAL AKINESIA DEFORMATION SEQUENCE 2,FETAL AKINESIA DEFORMATION SEQUENCE 3,FETAL AKINESIA DEFORMATION SEQUENCE 4,FETAL AKINESIA RESPIRATORY INSUFFICIENCY MICROCEPHALY POLYMICROGYRIA AND DYSMORPHIC FACIES,Fetal akinesia-cerebral and retinal hemorrhage syndrome,Fetal and neonatal alloimmune thrombocytopenia,Fetal encasement syndrome,Fetal Gaucher disease,FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1,FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6,Fever-associated acute infantile liver failure syndrome,FG SYNDROME 2,FG SYNDROME 4,FG syndrome type 1,FG SYNDROME TYPE 4,FGF13-related neurodevelopmental disorder hemizygous,FGF13-related neurodevelopmental disorder X-linked dominant,FGF14-related episodic ataxia,FGFR2-related bent bone dysplasia,FHEIG (facial dysmorphism hypertrichosis epilepsy intellectual disability/developmental delay and gingival overgrowth),FHL1-related Emery-related Dreifuss MD,Fibrillary astrocytoma,Fibrochondrogenesis,FIBROCHONDROGENESIS 1,FIBROCHONDROGENESIS 2,FIBRODYSPLASIA OSSIFICANS PROGRESSIVA,Fibrolamellar hepatocellular carcinoma,fibroma,FIBROMATOSIS GINGIVAL 1,FIBROMATOSIS GINGIVAL 5,FIBROMUSCULAR DYSPLASIA MULTIFOCAL,Fibronectin glomerulopathy,Fibrosarcoma,FIBROSIS NEURODEGENERATION AND CEREBRAL ANGIOMATOSIS,FIBROSIS OF EXTRAOCULAR MUSCLES CONGENITAL 1,FIBROSIS OF EXTRAOCULAR MUSCLES CONGENITAL 2,Fibrosis of extraocular muscles congenital 3A,Fibrosis of extraocular muscles congenital 3a with or without extraocular involvement,Fibrosis of extraocular muscles congenital 3b,Fibrosis of extraocular muscles congenital 5,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,FIBULAR APLASIA OR HYPOPLASIA FEMORAL BOWING AND POLY- SYN- AND OLIGODACTYLY,Fibular aplasia-complex brachydactyly syndrome,FICOLIN 3 DEFICIENCY,Filippi syndrome,FILIPPI SYNDROME. SYNDACTYLY TYPE I WITH MICROCEPHALY AND INTELLECTUAL DEVELOPMENTAL DISORDER,FISH-EYE DISEASE,FKRP-related  limb-girdle muscular dystrophy R9,FLECK CORNEAL DYSTROPHY,FLECK RETINA FAMILIAL BENIGN,FLNA-related X-linked myxomatous valvular dysplasia,FLNC-related DCM,FLNC-related Myofibrillar myopathy,FLOATING-HARBOR SYNDROME,FOCAL CORTICAL DYSPLASIA TYPE II,FOCAL DERMAL HYPOPLASIA,Focal epilepsy,Focal epilepsy - intellectual disability - cerebro-cerebellar malformation,FOCAL FACIAL DERMAL DYSPLASIA 3 SETLEIS TYPE,FOCAL FACIAL DERMAL DYSPLASIA 4,Focal facial dermal dysplasia type III,Focal facial dermal dysplasia type IV,Focal palmoplantar keratoderma with joint keratoses,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1,Focal Segmental Glomerulosclerosis 10,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 SUSCEPTIBILITY TO,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4 SUSCEPTIBILITY TO,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6,Focal segmental glomerulosclerosis 7,Focal segmental glomerulosclerosis 8,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9,FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME,Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome,FOLATE MALABSORPTION HEREDITARY,Follicular lymphoma,FONTAINE PROGEROID SYNDROME,Formiminoglutamic aciduria,FOVEAL HYPOPLASIA 1,Foveal hypoplasia 2,Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,Foveal hypoplasia-presenile cataract syndrome,Fowler vasculopathy,FOXG1 syndrome due to 14q12 microdeletion,FOXI3-related microtia and craniofacial microsomia,FOXP4-related Developmental Disorder,FRA10AC1-related neurodevelopmental disorder,Fragile X syndrome,FRAGILE X TREMOR/ATAXIA SYNDROME,Fragile X-associated primary ovarian insufficiency,Fragile X-associated tremor/ataxia syndrome,FRAGILE X-E INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME,FRANK-TER HAAR SYNDROME,FRASER SYNDROME,FRASER SYNDROME 1,FRASER SYNDROME 2,FRASER SYNDROME 3,FRASIER SYNDROME,FRAXE intellectual disability,FRAXF syndrome,Free sialic acid storage disease infantile form,Freeman-Sheldon syndrome,Fried syndrome,FRIEDREICH ATAXIA,FRMD5-related developmental disorder,FRONTOMETAPHYSEAL DYSPLASIA,FRONTOMETAPHYSEAL DYSPLASIA 1,FRONTOMETAPHYSEAL DYSPLASIA 2,FRONTONASAL DYSPLASIA 1,Frontonasal dysplasia 2,FRONTONASAL DYSPLASIA 3,FRONTONASAL DYSPLASIA TYPE 1,FRONTONASAL DYSPLASIA TYPE 3,Frontonasal dysplasia-alopecia-genital anomalies syndrome,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,Frontorhiny,FRONTOTEMPORAL DEMENTIA,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1,Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,Frontotemporal dementia and/or amyotrophic lateral sclerosis 3,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4,Frontotemporal dementia and/or amyotrophic lateral sclerosis 5,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6,Frontotemporal dementia and/or amyotrophic lateral sclerosis 7,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8,Frontotemporal dementia with motor neuron disease,FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS GRN-RELATED,FRUCTOSE INTOLERANCE HEREDITARY,FRUCTOSE-16-BISPHOSPHATASE DEFICIENCY,FRUCTOSURIA ESSENTIAL,Fryns syndrome,FTH1-related iron overload,Fuchs endothelial corneal dystrophy,FUCOSIDOSIS,FUCOSYLTRANSFERASE 6 DEFICIENCY,FUHRMANN SYNDROME,Fukutin-related  limb-girdle muscular dystrophy R13,Full NF2-related schwannomatosis,Full schwannomatosis,FUMARASE DEFICIENCY,Fumaric aciduria,FUNDUS ALBIPUNCTATUS,FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS INCLUDED,FXN-related Friedreich ataxia,FXR1-related congenital myopathy,FZR1-related intellectual disability and epilepsy,GAA-related Pompe disease,GABA-TRANSAMINASE DEFICIENCY,GABBR1-associated neurodevelopmental disorder,GABRG1-associated epileptic encephalopathy,Gabriele de Vries syndrome,GABRIELE-DE VRIES SYNDROME,GALACTOKINASE DEFICIENCY,Galactokinase deficiency with cataracts,Galactose mutarotase deficiency,GALACTOSEMIA,GALACTOSEMIA I,Galactosemia II,GALACTOSEMIA III,GALACTOSEMIA IV,GALACTOSIALIDOSIS,gallbladder carcinoma,GALLBLADDER DISEASE 1,GALLBLADDER DISEASE 4,Gallbladder Small Cell Neuroendocrine Carcinoma,GALLOWAY-MOWAT SYNDROME,GALLOWAY-MOWAT SYNDROME 1,GALLOWAY-MOWAT SYNDROME 10,GALLOWAY-MOWAT SYNDROME 2,GALLOWAY-MOWAT SYNDROME 2 X-LINKED,GALLOWAY-MOWAT SYNDROME 3,GALLOWAY-MOWAT SYNDROME 4,GALLOWAY-MOWAT SYNDROME 5,GALLOWAY-MOWAT SYNDROME 6,GALLOWAY-MOWAT SYNDROME 7,GALLOWAY-MOWAT SYNDROME 8,GALLOWAY-MOWAT SYNDROME 9,Galloway-Mowat syndrome: microcephaly and steroid-Resistant nephrotic syndrome,Gamma-aminobutyric acid transaminase deficiency,Gamma-glutamyl transpeptidase deficiency,GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO,Gamma-sarcoglycan-related  limb-girdle muscular dystrophy R5,GAND SYNDROME,ganglioneuroblastoma,ganglioneuroma,GAP JUNCTION PROTEIN BETA-3,GAPO syndrome,GARDNER SYNDROME,gastric adenocarcinoma,Gastric adenocarcinoma and proximal polyposis of the stomach,Gastric Adenoma,GASTRIC CANCER FAMILIAL DIFFUSE WITH OR WITHOUT CLEFT LIP AND/OR PALATE,GASTRIC CANCER GASTRIC CANCER INTESTINAL INCLUDED,Gastric Hamartomatous Polyp,Gastritis,Gastrointestinal defects and immunodeficiency syndrome 1,Gastrointestinal defects and immunodeficiency syndrome 2,Gastrointestinal Hamartoma,Gastrointestinal stromal tumor,Gastrointestinal stromal tumor/GIST-plus syndrome somatic or familial,GASTROINTESTINAL ULCERATION RECURRENT WITH DYSFUNCTIONAL PLATELETS,GAUCHER DISEASE ATYPICAL DUE TO SAPOSIN C DEFICIENCY,GAUCHER DISEASE PERINATAL LETHAL,GAUCHER DISEASE TYPE 1,Gaucher disease type 2,Gaucher disease type 3,GAUCHER DISEASE TYPE I,GAUCHER DISEASE TYPE II,GAUCHER DISEASE TYPE III,GAUCHER DISEASE TYPE IIIC,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,GAZE PALSY FAMILIAL HORIZONTAL WITH PROGRESSIVE SCOLIOSIS 1,GAZE PALSY FAMILIAL HORIZONTAL WITH PROGRESSIVE SCOLIOSIS 2 WITH IMPAIRED INTELLECTUAL DEVELOPMENT,Gaze palsy horizontal with progressive scoliosis,GBE1-associated Glycogen storage disease IV,GCGR-related hyperglucagonemia,GDF11-related vertebral hypersegmentation orofacial anomalies and neurodevelopmental disorder.,GDF3 multiple malformations,GDF5-related Symphalangism Spectrum Disorder,GDF6 Oculo-Skeletal Syndrome,GELATINOUS DROP-LIKE CORNEAL DYSTROPHY,Geleophysic dysplasia,GELEOPHYSIC DYSPLASIA 1,GELEOPHYSIC DYSPLASIA 2,GELEOPHYSIC DYSPLASIA 3,GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction,Gemistocytic astrocytoma,Generalized arterial calcification of infancy,Generalized Arterial Calcification of Infancy and Hypophosphataemic Rickets,GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 1,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 10,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 2,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9,Generalized epilepsy with febrile seizures-plus,Generalized epilepsy-paroxysmal dyskinesia syndrome,Generalized galactose epimerase deficiency,Generalized glucocorticoid resistance syndrome,Generalized juvenile polyposis/juvenile polyposis coli,Generalized pseudohypoaldosteronism type 1,Generalized pustular psoriasis,Genetic central precocious puberty in female,Genetic central precocious puberty in male,Genetic hyperferritinemia without iron overload,Genetic recurrent myoglobinuria,Genetic steroid-resistant nephrotic syndrome,Genetic transient congenital hypothyroidism,Genitopatellar syndrome,GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME,Germinoma of the central nervous system,Geroderma osteodysplastica,GERODERMA OSTEODYSPLASTICUM,GERSTMANN-STRAUSSLER DISEASE,Gerstmann-Straussler-Scheinker syndrome,GHOSAL HEMATODIAPHYSEAL DYSPLASIA,Ghosal hematodiaphyseal syndrome,Giant axonal neuropathy,Giant axonal neuropathy 1,GIANT AXONAL NEUROPATHY 1 AUTOSOMAL RECESSIVE,GIANT AXONAL NEUROPATHY 2 AUTOSOMAL DOMINANT,Giant cell arteritis,Giant cell glioblastoma,Giant Cell Tumor of Soft Tissue,GIGYF1-related developmental disorder monoallelic,GIL BLOOD GROUP,GILBERT SYNDROME,GILLES DE LA TOURETTE SYNDROME,Gillespie Syndrome,Gillespie Syndrome biallelic loss of function,Gillespie Syndrome monoallelic,GILLESSEN-KAESBACH-NISHIMURA SYNDROME,Gingival fibromatosis-hypertrichosis syndrome,GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome,GIST-PLUS SYNDROME,GITELMAN SYNDROME,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,GLA-related Fabry disease,GLANZMANN THROMBASTHENIA,Glanzmann thrombasthenia 1,GLANZMANN THROMBASTHENIA 2,GLASS SYNDROME,Glaucoma,GLAUCOMA 1 OPEN ANGLE A,GLAUCOMA 1 OPEN ANGLE F,GLAUCOMA 1 OPEN ANGLE G,Glaucoma 1A primary open angle,GLAUCOMA 3 PRIMARY CONGENITAL A,GLAUCOMA 3 PRIMARY CONGENITAL D,GLAUCOMA 3 PRIMARY CONGENITAL E,GLAUCOMA 3 PRIMARY INFANTILE B,GLAUCOMA NORMAL TENSION SUSCEPTIBILITY TO,GLAUCOMA PRIMARY CLOSED-ANGLE,GLAUCOMA PRIMARY OPEN ANGLE,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,GLDC-Related Glycine Encephalopathy,GLI2-Related Holoprosencephaly,GLIOMA SUSCEPTIBILITY 1,GLIOMA SUSCEPTIBILITY 2,GLIOMA SUSCEPTIBILITY 3,Glioma susceptibility 7,GLIOMA SUSCEPTIBILITY 9,Gliosarcoma,Global developmental delay absent or hypoplastic corpus callosum and dysmorphic facies,Global Developmental Delay Hypotonia Scoliosis and Cerebellar Atrophy,Global Developmental Delay Hypotonia Scoliosis and Cerebellar Atrophy Biallelic,GLOBAL DEVELOPMENTAL DELAY LUNG CYSTS OVERGROWTH AND WILMS TUMOR,Global Developmental Delay Multiple Malformations,GLOBAL DEVELOPMENTAL DELAY PROGRESSIVE ATAXIA AND ELEVATED GLUTAMINE,GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT,GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2,Glomuvenous malformation,GLOMUVENOUS MALFORMATIONS,GLRA1-related hyperexplexia biallelic,GLRA1-related hyperexplexia monoallelic,GLRB-related hyperexplexia biallelic,GLRB-related hyperexplexia monoallelic,GLUCOCORTICOID DEFICIENCY 1,GLUCOCORTICOID DEFICIENCY 2,Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency,GLUCOCORTICOID DEFICIENCY 5,GLUCOCORTICOID RESISTANCE GENERALIZED,GLUCOCORTICOID THERAPY RESPONSE TO,Glucose transporter type 1 deficiency syndrome,Glucose-galactose malabsorption,GLUCOSE/GALACTOSE MALABSORPTION,GLUT1 DEFICIENCY SYNDROME 1,GLUT1 deficiency syndrome 1 infantile onset severe,GLUT1 DEFICIENCY SYNDROME 2,GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY,Glutamate-cysteine ligase deficiency,GLUTAMINE DEFICIENCY CONGENITAL,GLUTARIC ACIDEMIA I,Glutaric acidemia type 3,GLUTARIC ACIDURIA III,glutaric aciduria type 2A,glutaric aciduria type 2B,glutaric aciduria type 2C,Glutaricacidemia Type 1,Glutaryl-CoA dehydrogenase deficiency,GLUTATHIONE PEROXIDASE DEFICIENCY,GLUTATHIONE SYNTHETASE DEFICIENCY,GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES HEMOLYTIC ANEMIA DUE TO,Glutathione synthetase deficiency with 5-oxoprolinuria,Glutathione synthetase deficiency without 5-oxoprolinuria,GLUTATHIONURIA,GLYCEROL KINASE 3 PSEUDOGENE,Glycerol Kinase Deficiency,Glycerol kinase deficiency adult form,Glycerol kinase deficiency juvenile form,GLYCEROL QUANTITATIVE TRAIT LOCUS,GLYCINE ENCEPHALOPATHY,Glycine Encephalopathy with Arthrogryposis,GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE,GLYCINE N-METHYLTRANSFERASE DEFICIENCY,GLYCOGEN STORAGE DISEASE 0 LIVER,GLYCOGEN STORAGE DISEASE 0 MUSCLE,Glycogen storage disease due to acid maltase deficiency infantile onset,Glycogen storage disease due to acid maltase deficiency late-onset,Glycogen storage disease due to aldolase A deficiency,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,Glycogen storage disease due to glycogen branching enzyme deficiency adult neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency childhood combined hepatic and myopathic form,Glycogen storage disease due to glycogen branching enzyme deficiency childhood neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency congenital neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency fatal perinatal neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency non progressive hepatic form,Glycogen storage disease due to glycogen branching enzyme deficiency progressive hepatic form,Glycogen storage disease due to glycogen debranching enzyme deficiency,Glycogen storage disease due to hepatic glycogen synthase deficiency,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,Glycogen storage disease due to LAMP-2 deficiency,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,Glycogen storage disease due to liver glycogen phosphorylase deficiency,Glycogen storage disease due to liver phosphorylase kinase deficiency,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,Glycogen storage disease due to muscle beta-enolase deficiency,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,Glycogen storage disease due to muscle phosphofructokinase deficiency,Glycogen storage disease due to muscle phosphorylase kinase deficiency,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,Glycogen storage disease due to phosphoglycerate mutase deficiency,Glycogen storage disease I,GLYCOGEN STORAGE DISEASE Ia,GLYCOGEN STORAGE DISEASE Ib,GLYCOGEN STORAGE DISEASE Ic,GLYCOGEN STORAGE DISEASE II,GLYCOGEN STORAGE DISEASE III,GLYCOGEN STORAGE DISEASE IV,GLYCOGEN STORAGE DISEASE IXa1,GLYCOGEN STORAGE DISEASE IXb,GLYCOGEN STORAGE DISEASE IXc,Glycogen storage disease IXd,GLYCOGEN STORAGE DISEASE OF HEART LETHAL CONGENITAL,GLYCOGEN STORAGE DISEASE TYPE II,Glycogen Storage Disease Type III,Glycogen Storage Disease Type VI,GLYCOGEN STORAGE DISEASE V,GLYCOGEN STORAGE DISEASE VI,GLYCOGEN STORAGE DISEASE VII,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,GLYCOGEN STORAGE DISEASE X,GLYCOGEN STORAGE DISEASE XI,GLYCOGEN STORAGE DISEASE XII,GLYCOGEN STORAGE DISEASE XIII,GLYCOGEN STORAGE DISEASE XV,Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25,GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY,GM1 gangliosidosis type 1,GM1 gangliosidosis type 2,GM1 gangliosidosis type 3,GM1-GANGLIOSIDOSIS TYPE I,GM1-GANGLIOSIDOSIS TYPE II,GM1-GANGLIOSIDOSIS TYPE III,GM2 gangliosidosis AB variant,GM2-GANGLIOSIDOSIS AB VARIANT,GM2-GANGLIOSIDOSIS TYPE 1,GM2-GANGLIOSIDOSIS TYPE 2,GM2-GANGLIOSIDOSIS TYPE AB,GM3 synthase deficiency,GMPPB-related  limb-girdle muscular dystrophy R19,GNAI1 syndrome,GNAO1-related developmental delay-seizures-movement disorder spectrum,GNATHODIAPHYSEAL DYSPLASIA,GNB2-related developmental disorder monoallelic,GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.,GNB5-related intellectual disability-cardiac arrhythmia syndrome,GNE myopathy,GNE-associated congenital myopathy,GNE-associated sialuria,Goiter multinodular 1 with or without sertoli-leydig cell tumors,GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME,GOLDBERG-SHPRINTZEN SYNDROME,Goldmann-Favre syndrome,GOLGA2-related myopathy seizures and microcephaly,Gollop-Wolfgang complex,Gomez-Lopez-Fernandes syndrome,Gonadal Teratoma,GORDON HOLMES SYNDROME,Gordon syndrome,Gorlin syndrome,Gorlin-Chaudhry-Moss syndrome,Gorlin-Chaudhry-Moss syndrome (GCMS);  Syndrome with Hypertrichosis Progeroid Appearance and Mitochondrial Dysfunction,GPHN-related molybdenum cofactor deficiency,GRACILE BONE DYSPLASIA,GRACILE SYNDROME,GRAFT-VERSUS-HOST DISEASE SUSCEPTIBILITY TO,Graham Little-Piccardi-Lassueur syndrome,GRANGE SYNDROME,Granular Cell Tumor,Granular corneal dystrophy type I,Granular corneal dystrophy type II,Granulomatosis with polyangiitis,GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 1,GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 2,GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 3,GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 4,GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 5,GRANULOMATOUS DISEASE CHRONIC X-LINKED,Graves disease,GRAY PLATELET SYNDROME,Greenberg dysplasia,GREIG CEPHALOPOLYSYNDACTYLY SYNDROME,GRIA1-related neurodevelopmental disorder,GRIA2-related developmental disorder monoallelic,GRID2-related cerebellar ataxia biallelic,GRID2-related cerebellar ataxia monoallelic,GRIK2-related intellectual disability and hypomyelination,GRIN1-associated Neurodevelopmental disorder with or without hyperkinetic movements and seizures autosomal recessive,GRIN2B-related developmental delay intellectual disability and autism spectrum disorder,Griscelli syndrome type 1,Griscelli syndrome type 2,Griscelli syndrome type 3,Griscelli Type 2,Griscelli Type 3,GRM7-related neurodevelopmental disorder,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,Growth delay due to insulin-like growth factor I resistance,Growth delay due to insulin-like growth factor type 1 deficiency,Growth delay-intellectual disability-hepatopathy syndrome,GROWTH HORMONE DEFICIENCY ISOLATED PARTIAL,GROWTH HORMONE INSENSITIVITY PARTIAL,GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1 AUTOSOMAL RECESSIVE,GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2 AUTOSOMAL DOMINANT,GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY,GROWTH RESTRICTION HYPOPLASTIC KIDNEYS ALOPECIA AND DISTINCTIVE FACIES,GROWTH RETARDATION DEVELOPMENTAL DELAY AND FACIAL DYSMORPHISM,GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH,GROWTH RETARDATION IMPAIRED INTELLECTUAL DEVELOPMENT HYPOTONIA ANDHEPATOPATHY,Growth Retardation with Prenatal Onset Intellectual Disability Muscular Hypotonia and Infantile Hepatopathy,Growth retardation-mild developmental delay-chronic hepatitis syndrome,GTF2IRD1-related neurodevelopmental disorder,GTP CYCLOHYDROLASE 1 DEFICIENCY,GTP cyclohydrolase I deficiency,GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY,GUILLAIN-BARRE SYNDROME FAMILIAL,Guttmacher syndrome,Gynandroblastoma,GYRATE ATROPHY OF CHOROID AND RETINA,Gyrate atrophy of choroid and retina with or without ornithinemia,H syndrome,H3F3A associated neurodevelopmental disorder,H3F3B associated neurodevelopmental disorder,HACD1-related congenital myopathy,HACE1 related disorder,Haddad syndrome,Haemochromatosis type 1,Haemochromatosis type 2A juvenile,Haemochromatosis type 2B juvenile,Haemochromatosis type 3,Haemochromatosis type 4,Hailey-Hailey disease,Haim-Munk syndrome,HAIR MORPHOLOGY 1,hairy cell leukemia,Hairy cell leukemia variant,Hajdu-Cheney syndrome,HALLERMANN-STREIFF SYNDROME,HALPERIN-BIRK SYNDROME,HAMAMY SYNDROME,Hamel cerebro-palato-cardiac syndrome,HANAC syndrome,HAND-FOOT-GENITAL SYNDROME,HAO-FOUNTAIN SYNDROME,Hao-Fountain syndrome due to 16p13.2 microdeletion,Hao-Fountain syndrome due to USP7 mutation,Harderoporphyria,HARDIKAR SYNDROME,HAREL-YOON SYNDROME,HARLEQUIN ICHTHYOSIS,HARP syndrome,Hartnup disease,HARTNUP DISORDER,HARTSFIELD SYNDROME,HASHIMOTO THYROIDITIS,Hashimoto's thyroiditis,Hatipoglu immunodeficiency syndrome,HAWKINSINURIA,Hb Bart's Hydrops Fetalis,HDAC4-related intellectual disability,head and neck squamous cell carcinoma,Hearing loss,HEART AND BRAIN MALFORMATION SYNDROME,Heart defect-tongue hamartoma-polysyndactyly syndrome,HEART DEFECTS CONGENITAL AND OTHER CONGENITAL ANOMALIES,HEART-HAND SYNDROME SLOVENIAN TYPE,HECW2-associated neurodevelopmental disorder,HECW2-related neurodevelopmental disorder,HEIMLER SYNDROME 1,HEIMLER SYNDROME 2,HEINZ BODY ANEMIAS,HELICOBACTER PYLORI INFECTION SUSCEPTIBILITY TO,Helicoid peripapillary chorioretinal degeneration,HELIX SYNDROME,HELLP syndrome,HELSMOORTEL-VAN DER AA SYNDROME,HEMANGIOMA CAPILLARY INFANTILE,HEMATURIA BENIGN FAMILIAL 1,HEMATURIA BENIGN FAMILIAL 2,HEME OXYGENASE 1 DEFICIENCY,Hemihyperplasia-multiple lipomatosis syndrome,Hemimegalencephaly,Hemimegalencephaly AKT3,Hemimegalencephaly PIK3CA,HEMOCHROMATOSIS TYPE 1,HEMOCHROMATOSIS TYPE 2A,HEMOCHROMATOSIS TYPE 2B,HEMOCHROMATOSIS TYPE 3,HEMOCHROMATOSIS TYPE 4,HEMOCHROMATOSIS TYPE 5,Hemoglobin C disease,Hemoglobin C-beta-thalassemia syndrome,Hemoglobin D disease,Hemoglobin E disease,Hemoglobin E-beta-thalassemia syndrome,HEMOGLOBIN H DISEASE,HEMOGLOBIN HIGH ALTITUDE ADAPTATION,Hemoglobin Lepore-beta-thalassemia syndrome,Hemoglobin M disease,Hemoglobinopathy Toms River,HEMOLYTIC ANEMIA CD59-MEDIATED WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY,HEMOLYTIC ANEMIA CONGENITAL X-LINKED,Hemolytic anemia due to adenylate kinase deficiency,Hemolytic anemia due to diphosphoglycerate mutase deficiency,Hemolytic anemia due to glucophosphate isomerase deficiency,Hemolytic anemia due to glutathione reductase deficiency,Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,Hemolytic anemia due to red cell pyruvate kinase deficiency,HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY,HEMOLYTIC ANEMIA NONSPHEROCYTIC DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY,HEMOLYTIC ANEMIA NONSPHEROCYTIC DUE TO HEXOKINASE DEFICIENCY,HEMOLYTIC DISEASE OF FETUS AND NEWBORN RH-INDUCED,HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 1,HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 2,HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 3,HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 4,HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 5,HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 6,Hemolytic uremic syndrome with DGKE deficiency,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 2,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 3,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 5 WITH OR WITHOUT MICROVILLUS INCLUSION DISEASE,HEMOPHILIA A,HEMOPHILIA B,HEMORRHAGE INTRACEREBRAL SUSCEPTIBILITY TO,Hemorrhagic destruction of the brain subependymal calcification and cataracts,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,HENGEL-MAROOFIAN-SCHOLS SYNDROME,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3,Hennekam syndrome,HEPARIN COFACTOR II DEFICIENCY,HEPATIC ADENOMAS FAMILIAL,HEPATIC LIPASE DEFICIENCY,Hepatic veno-occlusive disease-immunodeficiency syndrome,HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY,HEPATITIS B VIRUS SUSCEPTIBILITY TO,HEPATITIS C VIRUS SUSCEPTIBILITY TO,HEPATITIS FULMINANT VIRAL SUSCEPTIBILITY TO,Hepatobiliary Neoplasm,Hepatocellular Carcinoma,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,Hepatoerythropoietic porphyria,HEPATORENOCARDIAC DEGENERATIVE FIBROSIS,HERC2-related neurodevelopmental disorder,Hereditary 125-dihydroxyvitamin D-resistant rickets,Hereditary angioedema type 1,Hereditary angioedema type 2,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,Hereditary arterial and articular multiple calcification syndrome,Hereditary breast and/or ovarian cancer syndrome,Hereditary breast cancer,Hereditary central diabetes insipidus,Hereditary chronic pancreatitis,Hereditary clear cell renal cell carcinoma,Hereditary combined deficiency of vitamin K-dependent clotting factors,Hereditary continuous muscle fiber activity,Hereditary coproporphyria,Hereditary cryohydrocytosis with normal stomatin,Hereditary cryohydrocytosis with reduced stomatin,Hereditary diffuse gastric cancer,Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,Hereditary elliptocytosis,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,Hereditary folate malabsorption,Hereditary fructose intolerance,Hereditary gingival fibromatosis,Hereditary haemorrhagic telangiectasia,Hereditary haemorrhagic telangiectasia juvenile polyposis syndrome,HEREDITARY HEMORRHAGIC TELANGIECTASIA,Hereditary hypercarotenemia and vitamin A deficiency,Hereditary hyperekplexia,HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME,Hereditary hypophosphatemic rickets with hypercalciuria,Hereditary hypotrichosis with recurrent skin vesicles,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,Hereditary isolated aplastic anemia,Hereditary late-onset Parkinson disease,HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER,Hereditary methemoglobinemia,HEREDITARY MIXED POLYPOSIS,Hereditary mixed polyposis syndrome,Hereditary motor and sensory neuropathy Okinawa type,Hereditary motor and sensory neuropathy type 5,Hereditary motor and sensory neuropathy type 6,HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE IIC,Hereditary motor and sensory neuropathy VIA,HEREDITARY MULTIPLE EXOSTOSES TYPE 1,Hereditary Myopathy with Early Respiratory Failure,Hereditary myopathy with lactic acidosis due to ISCU deficiency,Hereditary neuroendocrine tumor of small intestine,Hereditary neuropathy with liability to pressure palsies,Hereditary neutrophilia,Hereditary North American Indian childhood cirrhosis,Hereditary orotic aciduria,Hereditary palmoplantar keratoderma Gamborg-Nielsen type,Hereditary papillary renal cell carcinoma,Hereditary pediatric Behcet-like disease,Hereditary persistence of alpha-fetoprotein,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,Hereditary pheochromocytoma-paraganglioma,Hereditary pulmonary alveolar proteinosis,Hereditary renal hypouricemia,Hereditary retinoblastoma,Hereditary sensorimotor neuropathy with hyperelastic skin,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,Hereditary sensory and autonomic neuropathy type 1,Hereditary sensory and autonomic neuropathy type 2,Hereditary sensory and autonomic neuropathy type 4,Hereditary sensory and autonomic neuropathy type 5,Hereditary sensory and autonomic neuropathy type 6,Hereditary sensory and autonomic neuropathy type 7,Hereditary sensory and autonomic neuropathy type 8,Hereditary sensory and autonomic neuropathy type VIII,Hereditary sensory neuropathy-deafness-dementia syndrome,Hereditary Spastic Paraparesis,Hereditary Spastic Paraplegia,Hereditary spherocytosis,Hereditary thrombocytopenia with early-onset myelofibrosis,Hereditary thrombophilia due to congenital antithrombin deficiency,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,Heritable pulmonary arterial hypertension,Hermansky-Pudlak,Hermansky-Pudlak Syndrome,HERMANSKY-PUDLAK SYNDROME 1,Hermansky-Pudlak Syndrome 10,HERMANSKY-PUDLAK SYNDROME 11,HERMANSKY-PUDLAK SYNDROME 2,HERMANSKY-PUDLAK SYNDROME 3,HERMANSKY-PUDLAK SYNDROME 4,Hermansky-Pudlak syndrome 5,HERMANSKY-PUDLAK SYNDROME 6,HERMANSKY-PUDLAK SYNDROME 7,HERMANSKY-PUDLAK SYNDROME 8,Hermansky-Pudlak syndrome 9,Hermansky-Pudlak syndrome due to AP-3 deficiency,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,Herpes simplex virus encephalitis,HESX1-Related Combined Pituitary Hormone Deficiency,Heterotaxy Syndrome,HETEROTAXY VISCERAL 1 X-LINKED,HETEROTAXY VISCERAL 10 AUTOSOMAL WITH MALE INFERTILITY,HETEROTAXY VISCERAL 11 AUTOSOMAL WITH MALE INFERTILITY,HETEROTAXY VISCERAL 12 AUTOSOMAL,HETEROTAXY VISCERAL 2 AUTOSOMAL,HETEROTAXY VISCERAL 4 AUTOSOMAL,HETEROTAXY VISCERAL 5 AUTOSOMAL,HETEROTAXY VISCERAL 6 AUTOSOMAL,HETEROTAXY VISCERAL 7 AUTOSOMAL,HETEROTAXY VISCERAL 8 AUTOSOMAL,HETEROTAXY VISCERAL 9 AUTOSOMAL WITH MALE INFERTILITY,HEYN-SPROUL-JACKSON SYNDROME,HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME,HIBCH deficiency,Hidrotic ectodermal dysplasia,High bone mass osteogenesis imperfecta,HIGH BONE MASS TRAIT,HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12,HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6,High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,High hyperopia,HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY,High myopia-sensorineural deafness syndrome,Hip dysplasia beukes type,HIRA-related neurodevelopmental disorder,Hirschprung disease with intestinal pseudo-obstruction,Hirschsprung disease,HIRSCHSPRUNG DISEASE CARDIAC DEFECTS AND AUTONOMIC DYSFUNCTION,HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 1,HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 2,HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 3,HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 4,Hirschsprung disease-ganglioneuroblastoma syndrome,HIST1H2AC-related developmental disorder monoallelic,HIST1H4C,HISTIDINEMIA,Histiocytic and Dendritic Cell Neoplasm,Histiocytoid cardiomyopathy,HISTIOCYTOMA ANGIOMATOID FIBROUS,HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME,HIVEP2 associated syndromic developmental delay with intellectual disability,HJV or HAMP-related hemochromatosis,HK1-related developmental disorder monoallelic,HMGB1-related brachyphalangy polydactyly and tibial aplasia syndrome,HMGB1-related intellectual disability,HNF1B-related autosomal dominant tubulointerstitial kidney disease,HNF4A-Related Maturity-Onset Diabetes of the Young Type 1,HNRNPD-related developmental disorder monoallelic,HNRNPDL-related  limb-girdle muscular dystrophy D3,HNRNPH1-related neurodevelopmental disorder,Hodgkins lymphoma,HOLOCARBOXYLASE SYNTHETASE DEFICIENCY,Holoprosencephaly,Holoprosencephaly 11,HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS,HOLOPROSENCEPHALY 13 X-LINKED,Holoprosencephaly 14,HOLOPROSENCEPHALY 2,HOLOPROSENCEPHALY 3,HOLOPROSENCEPHALY 4,HOLOPROSENCEPHALY 5,HOLOPROSENCEPHALY 7,HOLOPROSENCEPHALY 9,HOLOPROSENCEPHALY TYPE 3,HOLOPROSENCEPHALY-7,HOLT-ORAM SYNDROME,Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus,HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY,HOMOCYSTINURIA DUE TO DEFICIENCY OF N(510)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,Homocystinuria-megaloblastic anemia cbl E type,HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA cblE COMPLEMENTATION TYPE,HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA cblG COMPLEMENTATION TYPE,Homozygous familial hypercholesterolemia,Horizontal gaze palsy with progressive scoliosis,Hot water reflex epilepsy,HOYERAAL-HREIDARSSON SYNDROME,HPDL Neurodegenerative Disease,HPE-related disorder,HS2ST1-related Developmental Disorder,HSD10 disease atypical type,HSD10 disease infantile type,HSD10 disease neonatal type,HSD10 MITOCHONDRIAL DISEASE,HTRA1-related autosomal dominant cerebral small vessel disease,HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 SUSCEPTIBILITY TO,human piebaldism,HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY,HUNTINGTON DISEASE,HUNTINGTON DISEASE-LIKE 1,HUNTINGTON DISEASE-LIKE 2,Huntington disease-like syndrome due to C9ORF72 expansions,Huriez syndrome,HURLER SYNDROME,HURLER-SCHEIE SYNDROME,HUTCHINSON-GILFORD PROGERIA SYNDROME,HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies,HYALINE FIBROMATOSIS SYNDROME,Hyaluronidase deficiency,HYDATIDIFORM MOLE RECURRENT 1,HYDATIDIFORM MOLE RECURRENT 2,HYDATIDIFORM MOLE RECURRENT 3,HYDATIDIFORM MOLE RECURRENT 4,Hydranencephaly,HYDROCEPHALUS CONGENITAL 1,HYDROCEPHALUS CONGENITAL 2 WITH OR WITHOUT BRAIN OR EYE ANOMALIES,HYDROCEPHALUS CONGENITAL 3 WITH BRAIN ANOMALIES,HYDROCEPHALUS CONGENITAL 4,HYDROCEPHALUS CONGENITAL 5 SUSCEPTIBILITY TO,HYDROCEPHALUS CONGENITAL X-LINKED,HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS,HYDROCEPHALUS NONSYNDROMIC AUTOSOMAL RECESSIVE,HYDROCEPHALUS NONSYNDROMIC AUTOSOMAL RECESSIVE 2,HYDROCEPHALUS NORMAL-PRESSURE 1,Hydrocephalus with stenosis of the aqueduct of Sylvius,Hydrolethalus,HYDROLETHALUS SYNDROME 1,HYDROLETHALUS SYNDROME 2,HYDROLETHALUS SYNDROME TYPE 1,HYDROPS LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA,HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY,Hydroxykynureninuria,Hyper IgD syndrome,HYPER-IgD SYNDROME,HYPER-IgE RECURRENT INFECTION SYNDROME 1 AUTOSOMAL DOMINANT,HYPER-IgE RECURRENT INFECTION SYNDROME 2 AUTOSOMAL RECESSIVE,HYPER-IgE RECURRENT INFECTION SYNDROME 3 AUTOSOMAL RECESSIVE,HYPER-IgE RECURRENT INFECTION SYNDROME 4A AUTOSOMAL DOMINANT,HYPER-IgE RECURRENT INFECTION SYNDROME 4B AUTOSOMAL RECESSIVE,HYPER-IgE RECURRENT INFECTION SYNDROME 5 AUTOSOMAL RECESSIVE,Hyper-IgE recurrent infection syndrome autosomal recessive,Hyper-IgM syndrome type 2,Hyper-IgM syndrome type 3,Hyper-IgM syndrome type 5,Hyperaldosteronism familial type I,Hyperaldosteronism familial type II,HYPERALDOSTERONISM FAMILIAL TYPE III,HYPERALDOSTERONISM FAMILIAL TYPE IV,HYPERALPHALIPOPROTEINEMIA 1,Hyperammonemia due to carbonic anhydrase VA deficiency,Hyperammonemia due to N-acetylglutamate synthase deficiency,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,Hyperandrogenism due to cortisone reductase deficiency,HYPERBILIRUBINEMIA ROTOR TYPE,Hyperbilirubinemia transient familial neonatal,HYPERBILIVERDINEMIA,HYPERCALCEMIA INFANTILE 1,HYPERCALCEMIA INFANTILE 2,HYPERCALCIURIA ABSORPTIVE 2,HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY AUTOSOMAL DOMINANT,Hyperchlorhidrosis isolated,HYPERCHOLANEMIA FAMILIAL 1,HYPERCHOLANEMIA FAMILIAL 2,Hypercholesterolaemia autosomal dominant,Hypercholesterolaemia autosomal dominant type B,Hypercholesterolaemia autosomal recessive 1,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,HYPERCHOLESTEROLEMIA FAMILIAL 1,HYPERCHOLESTEROLEMIA FAMILIAL 2,HYPERCHOLESTEROLEMIA FAMILIAL 3,HYPERCHOLESTEROLEMIA FAMILIAL 4,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,Hyperekplexia,HYPEREKPLEXIA 1,HYPEREKPLEXIA 2,HYPEREKPLEXIA 3,HYPEREKPLEXIA 4,Hyperekplexia-epilepsy syndrome,HYPEREOSINOPHILIC SYNDROME IDIOPATHIC,HYPERFERRITINEMIA WITH OR WITHOUT CATARACT,HYPERGLYCINEMIA LACTIC ACIDOSIS AND SEIZURES,HYPERGLYCINURIA,HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE,Hyperimmunoglobulinemia D with periodic fever,HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 1,HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 2,HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 3,HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 4,HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 5,HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 6,HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 7,Hyperinsulinemic hypoglycemia familial 8,Hyperinsulinism due to HNF1A deficiency,Hyperinsulinism due to INSR deficiency,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,Hyperinsulinism due to UCP2 deficiency,Hyperinsulinism-hyperammonemia syndrome,HYPERKALEMIC PERIODIC PARALYSIS,Hyperkalemic Periodic Paralysis Type 1,Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,HYPERLIPIDEMIA FAMILIAL COMBINED 1,HYPERLIPIDEMIA FAMILIAL COMBINED 3,Hyperlipoproteinaemia type 1,Hyperlipoproteinaemia type IB,Hyperlipoproteinemia type I,HYPERLIPOPROTEINEMIA TYPE ID,HYPERLIPOPROTEINEMIA TYPE III,HYPERLIPOPROTEINEMIA TYPE V,HYPERLYSINEMIA,HYPERLYSINEMIA TYPE I,HYPERMANGANESEMIA WITH DYSTONIA 1,HYPERMANGANESEMIA WITH DYSTONIA 2,HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2,HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY,Hypermethioninemia due to glycine N-methyltransferase deficiency,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,HYPEROSTOSIS CORTICALIS GENERALISATA,HYPEROSTOSIS CRANIALIS INTERNA,Hyperoxaluria Primary Type 1,HYPEROXALURIA PRIMARY TYPE I,HYPEROXALURIA PRIMARY TYPE II,HYPEROXALURIA PRIMARY TYPE III,HYPERPARATHYROIDISM 1,HYPERPARATHYROIDISM 2 WITH JAW TUMORS,HYPERPARATHYROIDISM 4,HYPERPARATHYROIDISM NEONATAL SEVERE,HYPERPARATHYROIDISM TRANSIENT NEONATAL,HYPERPARATHYROIDISM-JAW TUMOR SYNDROME,HYPERPHENYLALANINEMIA BH4-DEFICIENT A,HYPERPHENYLALANINEMIA BH4-DEFICIENT B,HYPERPHENYLALANINEMIA BH4-DEFICIENT C,HYPERPHENYLALANINEMIA BH4-DEFICIENT D,Hyperphenylalaninemia due to DNAJC12 deficiency,Hyperphenylalaninemia Dystonia and Intellectual Disability,HYPERPHENYLALANINEMIA MILD NON-BH4-DEFICIENT,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6,HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER,HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 2,HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 4,HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 5,Hyperphosphatasia-intellectual disability syndrome,HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION FAMILIAL PROGRESSIVE,hyperplasia,Hyperproinsulinemia,HYPERPROLACTINEMIA,Hyperprolinemia type 1,HYPERPROLINEMIA TYPE 2,HYPERPROLINEMIA TYPE I,HYPERPROLINEMIA TYPE II,Hypersensitivity pneumonitis,Hypersulfaturia,HYPERTELORISM SEVERE WITH MIDFACE PROMINENCE MYOPIA INTELLECTUAL DEVELOPMENTAL DISORDER AND BONE FRAGILITY,HYPERTENSION AND BRACHYDACTYLY SYNDROME,HYPERTENSION DIASTOLIC RESISTANCE TO,Hypertension early-onset autosomal dominant with severe exacerbation in pregnancy,HYPERTENSION ESSENTIAL,HYPERTHYROIDISM FAMILIAL GESTATIONAL,HYPERTHYROIDISM NONAUTOIMMUNE,HYPERTHYROXINEMIA DYSTRANSTHYRETINEMIC,HYPERTHYROXINEMIA FAMILIAL DYSALBUMINEMIC,HYPERTRICHOSIS CONGENITAL GENERALIZED WITH OR WITHOUT GINGIVALHYPERPLASIA,HYPERTRIGLYCERIDEMIA 1,HYPERTRIGLYCERIDEMIA 2,HYPERTRIGLYCERIDEMIA TRANSIENT INFANTILE,Hypertriglycidaemia familial,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS,Hypertrophic osteoarthropathy primary autosomal dominant,HYPERTROPHIC OSTEOARTHROPATHY PRIMARY AUTOSOMAL RECESSIVE 1,HYPERTROPHIC OSTEOARTHROPATHY PRIMARY AUTOSOMAL RECESSIVE 2,hypertrophy,Hypertryptophanemia,HYPERURICEMIA HPRT-RELATED,HYPERURICEMIA PULMONARY HYPERTENSION RENAL FAILURE AND ALKALOSISSYNDROME,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,Hypervalinemia and hyperleucine-isoleucinemia,Hyperzincemia and hypercalprotectinemia,HYPOALPHALIPOPROTEINEMIA PRIMARY 1,HYPOALPHALIPOPROTEINEMIA PRIMARY 2,HYPOALPHALIPOPROTEINEMIA PRIMARY 2 INTERMEDIATE,HYPOBETALIPOPROTEINEMIA FAMILIAL 1,HYPOBETALIPOPROTEINEMIA FAMILIAL 2,HYPOCALCEMIA AUTOSOMAL DOMINANT 1,Hypocalcemia autosomal dominant 2,Hypocalcemic vitamin D dependent rickets,Hypocalcemic vitamin D-resistant rickets,Hypocalcified amelogenesis imperfecta,HYPOCALCIURIC HYPERCALCEMIA FAMILIAL TYPE I,Hypocalciuric hypercalcemia familial type II,HYPOCALCIURIC HYPERCALCEMIA FAMILIAL TYPE III,Hypochondrogenesis,HYPOCHONDROPLASIA,Hypocomplementemic urticarial vasculitis,Hypodontia-dysplasia of nails syndrome,Hypogammaglobulinemia short stature with microcephaly cataract and inner retinal dysfunction,HYPOGLYCEMIA LEUCINE-INDUCED,HYPOGONADOTROPIC HYPOGONADISM,HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA,Hypogonadotropic hypogonadism 10 with or without anosmia,HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA,Hypogonadotropic hypogonadism 14 with or without anosmia,HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA,Hypogonadotropic hypogonadism 16 with or without anosmia,Hypogonadotropic hypogonadism 17 with or without anosmia,Hypogonadotropic hypogonadism 18 with or without anosmia,Hypogonadotropic hypogonadism 19 with or without anosmia,HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA,Hypogonadotropic hypogonadism 20 with or without anosmia,Hypogonadotropic hypogonadism 21 with or without anosmia,HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA,HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA,Hypogonadotropic hypogonadism 7 with or without anosmia,Hypogonadotropic hypogonadism 8 with or without anosmia,HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA,Hypogonadotropic hypogonadism with or without anosmia,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,Hypohidrotic ectodermal dysplasia with immunodeficiency,Hypoinsulinemic hypoglycemia and body hemihypertrophy,HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY,Hypokalemic periodic paralysis,HYPOKALEMIC PERIODIC PARALYSIS TYPE 1,HYPOKALEMIC PERIODIC PARALYSIS TYPE 2,HYPOKALEMIC TUBULOPATHY AND DEAFNESS,HYPOMAGNESEMIA 1 INTESTINAL,HYPOMAGNESEMIA 2 RENAL,HYPOMAGNESEMIA 3 RENAL,HYPOMAGNESEMIA 4 RENAL,HYPOMAGNESEMIA 5 RENAL WITH OCULAR INVOLVEMENT,HYPOMAGNESEMIA 5 RENAL WITH OR WITHOUT OCULAR INVOLVEMENT,HYPOMAGNESEMIA 6 RENAL,HYPOMAGNESEMIA 7 RENAL WITH OR WITHOUT DILATED CARDIOMYOPATHY,HYPOMAGNESEMIA SEIZURES AND IMPAIRED INTELLECTUAL DEVELOPMENT 1,HYPOMAGNESEMIA SEIZURES AND IMPAIRED INTELLECTUAL DEVELOPMENT 2,Hypomaturation amelogenesis imperfecta,Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,Hypomyelinating Leukodystrophy,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,Hypomyelination neuropathy-arthrogryposis syndrome,Hypomyelination of early myelinating structures,Hypomyelination with atrophy of basal ganglia and cerebellum,HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,Hypomyelination-congenital cataract syndrome,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,HYPOPARATHYROIDISM FAMILIAL ISOLATED 1,HYPOPARATHYROIDISM FAMILIAL ISOLATED 2,HYPOPARATHYROIDISM SENSORINEURAL DEAFNESS AND RENAL DISEASE,HYPOPARATHYROIDISM SENSORINEURAL DEAFNESS AND RENAL DYSPLASIA SYNDROME,HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,Hypophosphatasia,HYPOPHOSPHATASIA ADULT,HYPOPHOSPHATASIA CHILDHOOD,HYPOPHOSPHATASIA INFANTILE,Hypophosphatemic rickets AR,HYPOPHOSPHATEMIC RICKETS AUTOSOMAL DOMINANT,HYPOPHOSPHATEMIC RICKETS AUTOSOMAL RECESSIVE 1,HYPOPHOSPHATEMIC RICKETS AUTOSOMAL RECESSIVE 2,HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA HEREDITARY,HYPOPHOSPHATEMIC RICKETS X-LINKED DOMINANT,HYPOPHOSPHATEMIC RICKETS X-LINKED RECESSIVE,HYPOPIGMENTATION ORGANOMEGALY AND DELAYED MYELINATION AND DEVELOPMENT,Hypopigmentation-punctate palmoplantar keratoderma syndrome,Hypoplasminogenemia,Hypoplastic amelogenesis imperfecta,HYPOPLASTIC LEFT HEART SYNDROME,HYPOPLASTIC LEFT HEART SYNDROME 2,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,Hypoprebetalipoproteinemia acanthocytosis retinitis pigmentosa and pallidal degeneration,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,HYPOSPADIAS 1 X-LINKED,HYPOSPADIAS 2 X-LINKED,HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY,Hypothryoidism congenital nongoitrous 4,HYPOTHYROIDISM CENTRAL WITH TESTICULAR ENLARGEMENT,HYPOTHYROIDISM CONGENITAL NONGOITROUS 1,HYPOTHYROIDISM CONGENITAL NONGOITROUS 2,HYPOTHYROIDISM CONGENITAL NONGOITROUS 4,HYPOTHYROIDISM CONGENITAL NONGOITROUS 5,HYPOTHYROIDISM CONGENITAL NONGOITROUS 6,HYPOTHYROIDISM CONGENITAL NONGOITROUS 7,HYPOTHYROIDISM CONGENITAL NONGOITROUS 8,HYPOTHYROIDISM CONGENITAL NONGOITROUS 9,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Hypothyroidism due to TSH receptor mutations,HYPOTONIA ATAXIA AND DELAYED DEVELOPMENT SYNDROME,HYPOTONIA ATAXIA DEVELOPMENTAL DELAY AND TOOTH ENAMEL DEFECT SYNDROME,HYPOTONIA HYPOVENTILATION IMPAIRED INTELLECTUAL DEVELOPMENT DYSAUTONOMIA EPILEPSY AND EYE ABNORMALITIES,HYPOTONIA INFANTILE WITH PSYCHOMOTOR RETARDATION,HYPOTONIA INFANTILE WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES,Hypotonia infantile with psychomotor retardation and characteristic facies 1,HYPOTONIA INFANTILE WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2,Hypotonia infantile with psychomotor retardation and characteristic facies 3,Hypotonia with lactic acidemia and hyperammonemia,HYPOTONIA-CYSTINURIA SYNDROME,Hypotonia-speech impairment-severe cognitive delay syndrome,HYPOTRICHOSIS 1,HYPOTRICHOSIS 11,Hypotrichosis 12,Hypotrichosis 13,HYPOTRICHOSIS 14,HYPOTRICHOSIS 15,HYPOTRICHOSIS 2,HYPOTRICHOSIS 3,HYPOTRICHOSIS 4,HYPOTRICHOSIS 5,HYPOTRICHOSIS 6,HYPOTRICHOSIS 7,HYPOTRICHOSIS 8,HYPOTRICHOSIS AND RECURRENT SKIN VESICLES,HYPOTRICHOSIS CONGENITAL WITH JUVENILE MACULAR DYSTROPHY,Hypotrichosis localised autosomal recessive,Hypotrichosis simplex,Hypotrichosis simplex of the scalp,Hypotrichosis simplex of the scalp 2,Hypotrichosis with juvenile macular degeneration,HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME,HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME,Hypotrichosis-lymphoedema-telangiectasia syndrome,HYPOURICEMIA RENAL 1,HYPOURICEMIA RENAL 2,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,ICF syndrome,Ichthyosiform erythroderma bullous,ICHTHYOSIS ANNULAR EPIDERMOLYTIC 1,Ichthyosis annular epidermolytic 2,ichthyosis autosomal recessive with hypotrichosis,ICHTHYOSIS BULLOSA OF SIEMENS,Ichthyosis congenital autosomal recessive,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 1,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 10,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 11,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 12,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 13,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 14,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 2,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 3,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 4A,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 4B,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 5,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 6,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 8,ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 9,ICHTHYOSIS CYCLIC WITH EPIDERMOLYTIC HYPERKERATOSIS,Ichthyosis follicularis-alopecia-photophobia syndrome,Ichthyosis harlequin,ICHTHYOSIS HYSTRIX CURTH-MACKLIN TYPE,ICHTHYOSIS HYSTRIX LAMBERT TYPE,Ichthyosis hystrix of Curth-Macklin,ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS,ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME,Ichthyosis lamellar 4,ICHTHYOSIS LAMELLAR AUTOSOMAL DOMINANT,Ichthyosis leucocyte vacuoles alopecia and sclerosing cholangitis,ICHTHYOSIS LEUKOCYTE VACUOLES ALOPECIA AND SCLEROSING CHOLANGITIS,ICHTHYOSIS PREMATURITY SYNDROME,ICHTHYOSIS SPASTIC QUADRIPLEGIA AND IMPAIRED INTELLECTUAL DEVELOPMENT,ICHTHYOSIS SPASTIC QUADRIPLEGIA AND INTELLECTUAL DEVELOPMENTAL DISORDER,ICHTHYOSIS VULGARIS,ICHTHYOSIS WITH CONFETTI,ICHTHYOSIS X-LINKED,Ichthyosis-hypotrichosis syndrome,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,ICHTHYOTIC KERATODERMA SPASTICITY HYPOMYELINATION AND DYSMORPHIC FACIAL FEATURES,Ichthyotic neutral lipid storage disease,Id macrocephaly and cerebellar hypoplasia,Idiopathic achalasia,Idiopathic aplastic anemia,Idiopathic bronchiectasis,Idiopathic CD4 lymphocytopenia,Idiopathic hypercalciuria,Idiopathic juvenile osteoporosis,Idiopathic pulmonary fibrosis,Idiopathic ventricular fibrillation non Brugada type,IFAP SYNDROME 1 WITH OR WITHOUT BRESHECK SYNDROME,IFAP SYNDROME 2,IFT74-associated ciliopathy,IgA NEPHROPATHY SUSCEPTIBILITY TO 3,IgE RESPONSIVENESS ATOPIC,IL21-related infantile inflammatory bowel disease,IMAGAWA-MATSUMOTO SYNDROME,IMAGe syndrome,IMAGe Syndrome with variable immunodeficiency,Imerslund-Grasbeck syndrome,Imerslund-Grasbeck syndrome 1,IMERSLUND-GRASBECK SYNDROME 2,IMINOGLYCINURIA,Immune deficiency due to impaired neutrophil phagocytosis and migration,IMMUNE DYSREGULATION AND SYSTEMIC HYPERINFLAMMATION SYNDROME,IMMUNE DYSREGULATION WITH AUTOIMMUNITY IMMUNODEFICIENCY AND LYMPHOPROLIFERATION,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,Immune thrombocytopenia,IMMUNODEFICIENCY 10,IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA,IMMUNODEFICIENCY 101 VARICELLA ZOSTER VIRUS-SPECIFIC,IMMUNODEFICIENCY 102,IMMUNODEFICIENCY 103 SUSCEPTIBILITY TO FUNGAL INFECTIONS,Immunodeficiency 104,Immunodeficiency 105,Immunodeficiency 106 susceptibility to viral infections,IMMUNODEFICIENCY 107 SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION,IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION,IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION,IMMUNODEFICIENCY 11,IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION,IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS,Immunodeficiency 12,Immunodeficiency 13,IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION AUTOSOMAL DOMINANT,IMMUNODEFICIENCY 14B AUTOSOMAL RECESSIVE,IMMUNODEFICIENCY 15A,IMMUNODEFICIENCY 15B,IMMUNODEFICIENCY 16,IMMUNODEFICIENCY 17,IMMUNODEFICIENCY 18,IMMUNODEFICIENCY 19,IMMUNODEFICIENCY 20,IMMUNODEFICIENCY 21,Immunodeficiency 22,IMMUNODEFICIENCY 23,IMMUNODEFICIENCY 24,IMMUNODEFICIENCY 25,Immunodeficiency 26 with or without neurologic abnormalities,IMMUNODEFICIENCY 27A,Immunodeficiency 27b,IMMUNODEFICIENCY 28,Immunodeficiency 29,IMMUNODEFICIENCY 30,IMMUNODEFICIENCY 31A,IMMUNODEFICIENCY 31B,IMMUNODEFICIENCY 31C,IMMUNODEFICIENCY 32A,IMMUNODEFICIENCY 32B,IMMUNODEFICIENCY 33,IMMUNODEFICIENCY 34,IMMUNODEFICIENCY 35,IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION,IMMUNODEFICIENCY 37,IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION,IMMUNODEFICIENCY 39,IMMUNODEFICIENCY 40,IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY,IMMUNODEFICIENCY 42,IMMUNODEFICIENCY 43,IMMUNODEFICIENCY 44,IMMUNODEFICIENCY 45,Immunodeficiency 46,IMMUNODEFICIENCY 47,IMMUNODEFICIENCY 48,IMMUNODEFICIENCY 49,IMMUNODEFICIENCY 50,IMMUNODEFICIENCY 51,IMMUNODEFICIENCY 52,IMMUNODEFICIENCY 53,IMMUNODEFICIENCY 54,IMMUNODEFICIENCY 55,IMMUNODEFICIENCY 56,IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION,IMMUNODEFICIENCY 58,IMMUNODEFICIENCY 60 AND AUTOIMMUNITY,IMMUNODEFICIENCY 61,IMMUNODEFICIENCY 62,IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY,IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION,IMMUNODEFICIENCY 65 SUSCEPTIBILITY TO VIRAL INFECTIONS,IMMUNODEFICIENCY 66,IMMUNODEFICIENCY 67,IMMUNODEFICIENCY 68,IMMUNODEFICIENCY 69,IMMUNODEFICIENCY 70,IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION,IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS,IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA,IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA,IMMUNODEFICIENCY 74 COVID19-RELATED X-LINKED,IMMUNODEFICIENCY 75 WITH LYMPHOPROLIFERATION,IMMUNODEFICIENCY 76,IMMUNODEFICIENCY 77,IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY,IMMUNODEFICIENCY 79,IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION,IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY,IMMUNODEFICIENCY 81,IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION,IMMUNODEFICIENCY 83 SUSCEPTIBILITY TO VIRAL INFECTIONS,IMMUNODEFICIENCY 84,IMMUNODEFICIENCY 85 AND AUTOIMMUNITY,IMMUNODEFICIENCY 86,IMMUNODEFICIENCY 87 AND AUTOIMMUNITY,IMMUNODEFICIENCY 88,IMMUNODEFICIENCY 89 AND AUTOIMMUNITY,IMMUNODEFICIENCY 9,IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY FUNCTIONAL HYPOSPLENIA AND HEPATIC DYSFUNCTION,IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION,IMMUNODEFICIENCY 92,IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY,IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES,Immunodeficiency 95,Immunodeficiency 96,IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION X-LINKED,IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS,Immunodeficiency by defective expression of MHC class I,Immunodeficiency by defective expression of MHC class II,IMMUNODEFICIENCY COMMON VARIABLE 1,IMMUNODEFICIENCY COMMON VARIABLE 10,IMMUNODEFICIENCY COMMON VARIABLE 11,IMMUNODEFICIENCY COMMON VARIABLE 12 WITH AUTOIMMUNITY,IMMUNODEFICIENCY COMMON VARIABLE 13,IMMUNODEFICIENCY COMMON VARIABLE 14,IMMUNODEFICIENCY COMMON VARIABLE 2,IMMUNODEFICIENCY COMMON VARIABLE 3,IMMUNODEFICIENCY COMMON VARIABLE 4,IMMUNODEFICIENCY COMMON VARIABLE 5,IMMUNODEFICIENCY COMMON VARIABLE 6,IMMUNODEFICIENCY COMMON VARIABLE 7,IMMUNODEFICIENCY COMMON VARIABLE 8 WITH AUTOIMMUNITY,IMMUNODEFICIENCY DEVELOPMENTAL DELAY AND HYPOHOMOCYSTEINEMIA,Immunodeficiency due to a classical component pathway complement deficiency,Immunodeficiency due to a late component of complement deficiency,Immunodeficiency due to CD25 deficiency,IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN,Immunodeficiency due to ficolin3 deficiency,Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,Immunodeficiency due to MASP-2 deficiency,IMMUNODEFICIENCY WITH CLEFT LIP/PALATE CATARACT HYPOPIGMENTATION AND ABSENT CORPUS CALLOSUM,Immunodeficiency with factor H anomaly,Immunodeficiency with factor I anomaly,IMMUNODEFICIENCY WITH HYPER-IgM TYPE 1,IMMUNODEFICIENCY WITH HYPER-IgM TYPE 2,IMMUNODEFICIENCY WITH HYPER-IgM TYPE 3,IMMUNODEFICIENCY WITH HYPER-IgM TYPE 5,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4,IMMUNODYSREGULATION POLYENDOCRINOPATHY AND ENTEROPATHY X-LINKED,Immunoglobulin A deficiency 2,Immunoglobulin-mediated membranoproliferative glomerulonephritis,Impaired Cilia Orientation and Mucociliary Clearance,IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS,IMPAIRED INTELLECTUAL DEVELOPMENT ANTERIOR MAXILLARY PROTRUSION AND STRABISMUS,IMPAIRED INTELLECTUAL DEVELOPMENT TRUNCAL OBESITY RETINAL DYSTROPHY AND MICROPENIS SYNDROME,IMPDH2 ENZYME ACTIVITY VARIATION IN,Inclusion body myopathy and brain white matter abnormalities,INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1,Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2,Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,Incontinentia pigmenti,Increased analgesia from kappa-opioid receptor agonist female-specific,Indifference to pain congenital autosomal recessive,Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy,Infant acute respiratory distress syndrome,Infantile ataxia with oculomotor and pyramidal signs,INFANTILE CATARACT SKIN ABNORMALITIES GLUTAMATE EXCESS AND IMPAIRED INTELLECTUAL DEVELOPMENT,Infantile cerebellar-retinal degeneration,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,Infantile convulsions and choreoathetosis,Infantile dystonia-parkinsonism,Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum,Infantile Epilepsy Cataracts and Profound Developmental Delay,INFANTILE EPILEPTIC ENCEPHALOPATHY,INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY,Infantile epileptic-dyskinetic encephalopathy,Infantile glycine encephalopathy,Infantile hypertrophic cardiomyopathy and lactic acidosis,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,Infantile hypertrophic cardiomyopathy lactic acidosis and isolated complex I deficiency,Infantile hypophosphatasia,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,Infantile inflammatory bowel disease with neurological involvement,Infantile Krabbe disease,INFANTILE LIVER FAILURE SYNDROME 1,INFANTILE LIVER FAILURE SYNDROME 2,INFANTILE LIVER FAILURE SYNDROME 3,Infantile multisystem neurologic-endocrine-pancreatic disease,Infantile myofibromatosis,Infantile nephronophthisis,INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY,Infantile nephropathic cystinosis,Infantile neuroaxonal dystrophy,Infantile neuroaxonal dystrophy 1,Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome,Infantile neurovisceral acid sphingomyelinase deficiency,Infantile onset spinocerebellar ataxia,Infantile osteopetrosis with neuroaxonal dysplasia,Infantile Refsum disease,INFANTILE SIALIC ACID STORAGE DISEASE,Infantile spasms syndrome,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,INFANTILE STRIATONIGRAL DEGENERATION,INFANTILE SYSTEMIC HYALINOSIS,Infantile-onset ascending hereditary spastic paralysis,Infantile-onset generalized dyskinesia with orofacial involvement,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities,infantile-onset severe developmental delay and skeletal dysplasia,Infantile-onset X-linked spinal muscular atrophy,Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant,INFLAMMATORY BOWEL DISEASE 13,INFLAMMATORY BOWEL DISEASE 14,INFLAMMATORY BOWEL DISEASE 17,INFLAMMATORY BOWEL DISEASE 25 AUTOSOMAL RECESSIVE,INFLAMMATORY BOWEL DISEASE 28 AUTOSOMAL RECESSIVE,INFLAMMATORY BOWEL DISEASE 29,INFLAMMATORY BOWEL DISEASE CROHN DISEASE 1,INFLAMMATORY BOWEL DISEASE CROHN DISEASE 10,INFLAMMATORY BOWEL DISEASE CROHN DISEASE 19,INFLAMMATORY BOWEL DISEASE CROHN DISEASE 30,INFLAMMATORY BOWEL DISEASE IMMUNODEFICIENCY AND ENCEPHALOPATHY,INFLAMMATORY BOWEL DISEASE INFANTILE ULCERATIVE COLITIS 31 AUTOSOMAL RECESSIVE,Inflammatory bowel disease-recurrent sinopulmonary infections syndrome,Inflammatory myofibroblastic tumor,Inflammatory poikiloderma with hair abnormalities and acral keratoses,INFLAMMATORY SKIN AND BOWEL DISEASE NEONATAL 1,INFLAMMATORY SKIN AND BOWEL DISEASE NEONATAL 2,INFLUENZA SEVERE SUSCEPTIBILITY TO,Inherited acute myeloid leukemia,Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,Inherited congenital spastic tetraplegia,Inherited Creutzfeldt-Jakob disease,Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,Inherited Skin Fragility,INOSINE TRIPHOSPHATASE DEFICIENCY,INSENSITIVITY TO PAIN CONGENITAL WITH ANHIDROSIS,INSULIN RECEPTOR SUBSTRATE 1,INSULIN-LIKE GROWTH FACTOR I DEFICIENCY,INSULIN-LIKE GROWTH FACTOR I RESISTANCE TO,INSULIN-LIKE GROWTH FACTOR I RESISTANCE TO biallelic,Insulin-resistance syndrome type A,Insulinoma,INSULINOMATOSIS AND DIABETES MELLITUS,INTELLECTUAL DEVELOPMENTAL DISORDER 59,INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 1,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 10,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 19,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 21,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 22,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 23,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 24,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 26,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 28,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 29,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 3,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 30 WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 32,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 33,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 34,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 35,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 36,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 38,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 39,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 41,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 42,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 43,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 44 WITH MICROCEPHALY,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 45,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 46,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 47,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 48,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 5,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 50 WITH BEHAVIORAL ABNORMALITIES,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 51,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 52,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 53,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 54,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 55 WITH SEIZURES,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 56,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 57,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 58,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 59,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 6,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 6 WITH OR WITHOUT SEIZURES,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 60 WITH SEIZURES,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 61,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 62,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 63 WITH MACROCEPHALY,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 64,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 65,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 66,Intellectual developmental disorder autosomal dominant 67,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 68,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 69,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 7,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 70,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 71 WITH BEHAVIORAL ABNORMALITIES,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 3,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 4,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 5,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 7,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 1,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 12,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 13,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 14,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 18 WITH OR WITHOUT EPILEPSY,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 2,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 27,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 3,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALY,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 37,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 38,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 39,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 41,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 43,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 44,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 45,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 46,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 47,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 48,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 5,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 51,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 52,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 54,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 56,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 57,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 58,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 59,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 6,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 60,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 61,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 63,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 64,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 65,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 66,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 67,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 68,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 69,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 7,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 71,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 72,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 73,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 74,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 75 WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 76,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 77,Intellectual developmental disorder autosomal recessive 78,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 1,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 13,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 18,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 2A,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 3,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 6,INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 7,INTELLECTUAL DEVELOPMENTAL DISORDER FRA12A TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED CABEZAS TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED CHRISTIANSON TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED JARID1C-RELATED,INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED LUBS TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED SIDERIUS TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TURNER TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TYPE 10,INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TYPE 14,INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED ZDHHC9-RELATED,INTELLECTUAL DEVELOPMENTAL DISORDER TRUNCAL OBESITY RETINAL DYSTROPHY AND MICROPENIS,INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR MICROCEPHALY AND SHORT STATURE,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH OR WITHOUT SEIZURES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA,Intellectual developmental disorder with cardiac defects and dysmorphic facies,INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS,INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES SEIZURES AND DISTAL LIMB ANOMALIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY BEHAVIORAL ABNORMALITIES AND COARSE FACIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA IMPAIRED SPEECH AND DYSMORPHIC FACIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES,Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism,INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY SEIZURES AND SPEECH DELAY,INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA,INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM,INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS,INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH DYSMORPHIC FACIES AND VARIABLE SKELETAL ANOMALIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES,Intellectual developmental disorder with ocular anomalies and distinctive facial features,INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA,INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY,INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN,INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE FACIALANOMALIES AND SPEECH DEFECTS,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AUTISM AND DYSMORPHIC FACIES,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY DYSMORPHIC FACIES AND T-CELL ABNORMALITIES,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 1,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 100,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 101,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 102,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 103,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 104,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 105,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 106,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 107,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 108,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 109,Intellectual developmental disorder X-linked 110,Intellectual developmental disorder X-linked 111,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 12,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 19,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 21,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 29,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 3,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 30,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 41,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 50,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 58,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 72,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 9,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 90,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 93,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 96,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 97,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 98,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 99,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 99 SYNDROMIC FEMALE-RESTRICTED,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ARX-RELATED,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED CASK-RELATED,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED OPHN1-RELATED,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC 11,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC 13,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC 14,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC 32,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC 33,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC 34,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC 35,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC ARMFIELD TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC BAIN TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC BILLUART TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC CABEZAS TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC CHRISTIANSON TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC CLAES-JENSEN TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC HACKMANN-DI DONATO TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC HEDERA TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC HOUGE TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC LUBS TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC LUJAN-FRYNS TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC NASCIMENTO TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC PILORGE TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC RAYMOND TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC SIDERIUS TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC SNIJDERS BLOK TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC SNYDER-ROBINSON TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC WILSON-TURNER TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC WITH PIGMENTARY MOSAICISM AND COARSE FACIES,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC WU TYPE,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYP-RELATED,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 21,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 30,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 41,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 44,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 46,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 58,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 59,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 63,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 72 MRX72 +/- PARKINSONS,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 90,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 91,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 93,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 94,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 95,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH EPILEPSY,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH PANHYPOPITUITARISM,INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ZNF711-RELATED,INTELLECTUAL DEVELOPMENTAL DISORDER-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS,INTELLECTUAL DEVELOPMENTAL DISORDER-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES,INTELLECTUAL DEVELOPMENTAL DISORDER-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS,INTELLECTUAL DEVELOPMENTAL DISORDER-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS,Intellectual disability,Intellectual Disability Accompanied by Epilepsy and Autistic Features,Intellectual Disability and Central Nervous System anomalies,Intellectual disability and epilepsy,Intellectual disability and iris abnormalities,INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME,Intellectual Disability Ataxia and Facial Dysmorphism,Intellectual disability Birk-Barel type,Intellectual Disability Central Nervous System anomalies and Scoliosis,Intellectual Disability Central Nervous System anomalies and Seizures,Intellectual Disability Congenital Malformations and Failure to Thrive,Intellectual Disability Developmental Delay and Short Stature,Intellectual disability encephalopathy impaired GPI-anchor maturation,Intellectual Disability Seizures Abnormal Gait and Distinctive Facial Features,Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features,Intellectual disability syndrome due to a DYRK1A point mutation,Intellectual disability with ataxia/spasticity,Intellectual disability with autism spectrum disorder,Intellectual Disability with Cerebellar Atrophy,Intellectual disability with epilepsy,Intellectual disability with facial dysmorphism,Intellectual Disability with or without Epileptic Encephalopathy,Intellectual Disability with or without Epileptic Encephalopathy activating,Intellectual disability with pigmentary mosaicism and storage disorder,Intellectual Disability with Seizures,Intellectual Disability with Seizures and Hypotonia,Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior,Intellectual Disability with Variable Brain Anomalies,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome,Intellectual disability-developmental delay-contractures syndrome,Intellectual disability-early-onset cataract-microcephaly syndrome,Intellectual disability-epilepsy-extrapyramidal syndrome,Intellectual disability-expressive aphasia-facial dysmorphism syndrome,Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME X-LINKED 1,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,Intellectual disability-severe speech delay-mild dysmorphism syndrome,Intellectual disability-strabismus syndrome,Intellectual disabiltiy,INTERLEUKIN 6 SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS,Intermediate collagen VI-related muscular dystrophy,Intermediate DEND syndrome,Intermediate epidermolysis bullosa simplex with cardiomyopathy,Intermediate generalized junctional epidermolysis bullosa,Intermediate maple syrup urine disease,Intermediate nemaline myopathy,Intermediate osteopetrosis,Intermediate severe Salla disease,Intermittent hydrarthrosis,Intermittent maple syrup urine disease,INTERSTITIAL LUNG AND LIVER DISEASE,INTERSTITIAL LUNG DISEASE 1,INTERSTITIAL LUNG DISEASE 2,Interstitial lung disease due to ABCA3 deficiency,Interstitial lung disease due to SP-C deficiency,Interstitial lung disease nephrotic syndrome and epidermolysis bullosa congenital,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,INTERSTITIAL NEPHRITIS KARYOMEGALIC,INTERVERTEBRAL DISC DISEASE,INTESTINAL ATRESIA MULTIPLE,Intestinal dysmotility syndrome,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,Intestinal pseudoobstruction neuronal chronic idiopathic X-linked,INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY,Intrahepatic cholestasis of pregnancy,Intraosseous Vascular Malformation,Intrauterine growth restriction-congenital multiple cafe-au-lait macules-increased sister chromatid exchange syndrome,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,Intrauterine growth retardation metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies,INTRAUTERINE GROWTH RETARDATION METAPHYSEAL DYSPLASIA ADRENAL HYPOPLASIA CONGENITA GENITAL ANOMALIES AND IMMUNODEFICIENCY,Intravascular large B-cell lymphoma,INTRINSIC FACTOR DEFICIENCY,Invasive Breast Carcinoma,IPEX Syndrome,IPO8-related syndromic thoracic aortic aneurysm,IREB2-related neurodevelopmental disorder,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,IRIDA syndrome,Iron overload susceptibility to,IRON-REFRACTORY IRON DEFICIENCY ANEMIA,Ischio-vertebral syndrome,ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIALHYPERTENSION,ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY,Isolated anencephaly,Isolated aniridia,Isolated Arhinia/Bosma Arhinia syndrome,Isolated asymptomatic elevation of creatine phosphokinase,Isolated ATP synthase deficiency,Isolated autosomal dominant hypomagnesemia Glaudemans type,Isolated bone marrow mastocytosis,Isolated childhood apraxia of speech,Isolated cleft lip,Isolated complex I deficiency,Isolated complex III deficiency,Isolated congenital adermatoglyphia,Isolated congenital anosmia,Isolated congenital breast hypoplasia/aplasia,Isolated congenital digital clubbing,Isolated congenital megalocornea,Isolated congenital sclerocornea,Isolated congenitally uncorrected transposition of the great arteries,Isolated cytochrome C oxidase deficiency,Isolated Dandy-Walker malformation with hydrocephalus,Isolated Dandy-Walker malformation without hydrocephalus,Isolated delta-storage pool disease,ISOLATED ECTOPIA LENTIS,Isolated exencephaly,Isolated focal cortical dysplasia type Ia,Isolated focal cortical dysplasia type IIa,Isolated focal cortical dysplasia type IIb,Isolated focal non-epidermolytic palmoplantar keratoderma,Isolated follicle-stimulating hormone deficiency,Isolated generalized anhidrosis with normal sweat glands,Isolated growth hormone deficiency type IA,Isolated growth hormone deficiency type IB,Isolated growth hormone deficiency type II,ISOLATED GROWTH HORMONE DEFICIENCY TYPE III WITH AGAMMAGLOBULINEMIA,ISOLATED GROWTH HORMONE DEFICIENCY TYPE IV,Isolated hemihyperplasia,Isolated hyperchlorhidrosis,Isolated Klippel-Feil syndrome,Isolated megalencephaly,Isolated microphthalmia 7,Isolated neonatal sclerosing cholangitis,Isolated Nonsyndromic Patent Ductus Arteriosus.,Isolated ocular coloboma,Isolated osteopoikilosis,Isolated permanent neonatal diabetes mellitus,Isolated Pierre Robin syndrome,Isolated polycystic liver disease,Isolated sedoheptulokinase deficiency,Isolated split hand-split foot malformation,Isolated succinate-CoQ reductase deficiency,Isolated sulfite oxidase deficiency,Isolated thyroid-stimulating hormone deficiency,Isolated thyrotropin-releasing hormone deficiency,ISOVALERIC ACIDEMIA,ISPD-related  limb-girdle muscular dystrophy R20,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,IVIC SYNDROME,JABERI-ELAHI SYNDROME,JACKSON-WEISS SYNDROME,Jacobsen syndrome,JAG2-related muscular dystrophy,JALILI SYNDROME,JANSEN METAPHYSEAL CHONDRODYSPLASIA,JANSEN-DE VRIES SYNDROME,JARID2-related Neurodevelopmental Disorder,JAWAD SYNDROME,JENSEN SYNDROME,Jervell and Lange-Nielsen syndrome,JERVELL AND LANGE-NIELSEN SYNDROME 1,JERVELL AND LANGE-NIELSEN SYNDROME 2,Jervell and Lange-Nielsen syndrome type 1,Jervell and Lange-Nielsen syndrome type 2,Jeune syndrome,JMJD1C-related Neurodevelopmental disorder,JOHANSON-BLIZZARD SYNDROME,JOINT CONTRACTURES OSTEOCHONDROMAS AND B-CELL LYMPHOMA,JOINT LAXITY SHORT STATURE AND MYOPIA,Joubert Syndrome,JOUBERT SYNDROME 1,JOUBERT SYNDROME 10,JOUBERT SYNDROME 13,JOUBERT SYNDROME 14,Joubert syndrome 15,JOUBERT SYNDROME 16,JOUBERT SYNDROME 17,JOUBERT SYNDROME 18,Joubert syndrome 2,JOUBERT SYNDROME 20,JOUBERT SYNDROME 21,Joubert syndrome 22,Joubert syndrome 23,Joubert syndrome 24,Joubert syndrome 25,Joubert syndrome 26,JOUBERT SYNDROME 27,JOUBERT SYNDROME 28,JOUBERT SYNDROME 3,Joubert syndrome 30,JOUBERT SYNDROME 31,JOUBERT SYNDROME 32,JOUBERT SYNDROME 33,JOUBERT SYNDROME 35,JOUBERT SYNDROME 36,JOUBERT SYNDROME 37,JOUBERT SYNDROME 38,Joubert syndrome 39,JOUBERT SYNDROME 4,JOUBERT SYNDROME 40,JOUBERT SYNDROME 5,JOUBERT SYNDROME 6,JOUBERT SYNDROME 7,JOUBERT SYNDROME 8,JOUBERT SYNDROME 9,Joubert Syndrome and Related Disorders,JOUBERT SYNDROME TYPE 1,JOUBERT SYNDROME TYPE 10,JOUBERT SYNDROME TYPE 4,JOUBERT SYNDROME TYPE 5,Joubert Syndrome with Cranio-facial and Skeletal Defects,Joubert syndrome with hepatic defect,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,Joubert syndrome with ocular defect,Joubert syndrome with oculorenal defect,Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy,Joubert syndrome with renal defect,Juberg-Hayward syndrome,Junctional epidermolysis bullosa with pyloric atresia,JUP-related Naxos disease,Juvenile absence epilepsy,Juvenile amyotrophic lateral sclerosis,JUVENILE ARTHRITIS,Juvenile cataract-microcornea-renal glucosuria syndrome,Juvenile glaucoma,Juvenile Huntington disease,JUVENILE HYALINE FIBROMATOSIS,Juvenile myelomonocytic leukemia,Juvenile myoclonic epilepsy,Juvenile nephronophthisis,Juvenile nephropathic cystinosis,Juvenile open angle glaucoma,Juvenile or adult CACH syndrome,Juvenile Paget disease,Juvenile Polyp,Juvenile polyposis of infancy,Juvenile polyposis syndrome,JUVENILE POLYPOSIS SYNDROME INFANTILE FORM,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Juvenile primary lateral sclerosis,Juvenile sialidosis type 2,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,Juvenile-onset Steinert myotonic dystrophy,Kabuki syndrome,KABUKI SYNDROME 1,KABUKI SYNDROME 2,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,KAHRIZI SYNDROME,KALLIKREIN DECREASED URINARY ACTIVITY OF,Kallmann Syndrome,KANZAKI DISEASE,Kaposi sarcoma,KAPOSI SARCOMA SUSCEPTIBILITY TO,Kaposi's sarcoma,Kaposiform hemangioendothelioma,KARS1-related leukoencephalopathy with or without deafness,Karyomegalic interstitial nephritis,KAT5-related Neurodevelopmental Syndrome,KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS,KAUFMAN OCULOCEREBROFACIAL SYNDROME,KAYA-BARAKAT-MASSON SYNDROME,KBG syndrome,KCN4 related abnormal striatum congenital cataract and intellectual disability.,KCNA1-related epileptic encephalopathy biallelic,KCNA1-related epileptic encephalopathy monoallelic,KCND3-related developmental disorder monoallelic,KCNH2-related LQTS,KCNH2-related SQTS,KCNH5-related epilepsy and epileptic encephalopathy,KCNJ2 relared SQTS,KCNJ2-related Andersen-related Tawil syndrome,KCNK3-related developmental disorder monoallelic,KCNMA1-related developmental delay seizures and cerebellar atrophy,KCNQ1-related JLNS,KCNQ1-related LQTS,KCNQ1-related SQTS,KCNQ2-related epileptic encephalopathy,KCNQ3 syndrome,KDELR2-related Osteogenesis Imperfecta,KDM2B-related neurodevelopmental disorder,KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome,KDM4B-related Developmental Disorder,KDM5C-related syndromic X-linked intellectual disability,KDM6B-related developmental disorder monoallelic,Kearns Sayre syndrome,Keipert syndrome,Keloid,Kennedy disease,KENNY-CAFFEY SYNDROME,Kenny-Caffey syndrome type 1,Kenny-Caffey syndrome type 2,Keppen-Lubinsky syndrome,KERATITIS HEREDITARY,KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME AUTOSOMAL DOMINANT,KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME AUTOSOMAL RECESSIVE,KERATOCONUS 1,KERATOCONUS 9,KERATOCONUS WITH CATARACT,Keratoderma hereditarium mutilans,Keratoderma hereditarium mutilans with ichthyosis,KERATODERMA PALMOPLANTAR WITH DEAFNESS,KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME AUTOSOMAL RECESSIVE,KERATOENDOTHELIITIS FUGAX HEREDITARIA,Keratolytic winter erythema,Keratosis follicularis spinulosa decalvans,KERATOSIS FOLLICULARIS SPINULOSA DECALVANS X-LINKED,KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,KERATOSIS PALMOPLANTARIS STRIATA II,KERATOSIS PALMOPLANTARIS STRIATA III,KERATOSIS PILARIS ATROPHICANS,KERATOSIS SEBORRHEIC,Ketoacidosis due to monocarboxylate transporter-1 deficiency,Keutel syndrome,KHAN-KHAN-KATSANIS SYNDROME,KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,KID syndrome,KIDINS220-related Developmental Disorder biallelic,kidney neoplasm,KIF3B-related ciliopathy,KIF5A-associated severe neonatal myoclonus,KILQUIST SYNDROME,Kindler epidermolysis bullosa,KINDLER SYNDROME,King Denborough syndrome,KINSSHIP SYNDROME,Kleefstra syndrome,KLEEFSTRA SYNDROME 1,KLEEFSTRA SYNDROME 2,Kleefstra syndrome due to 9q34 microdeletion,Kleefstra syndrome due to a point mutation,Kleine-Levin syndrome,KLF7-related developmental disorder,KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome,KLHL7-related Bohring-Opitz-like syndrome,KLHL7-related Crisponi/cold-induced sweating-like syndrome,KLHL9-related early-onset distal myopathy,Klippel-Feil Anomaly,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,KLIPPEL-FEIL SYNDROME 1 AUTOSOMAL DOMINANT,KLIPPEL-FEIL SYNDROME 2 AUTOSOMAL RECESSIVE,KLIPPEL-FEIL SYNDROME 3 AUTOSOMAL DOMINANT,KLIPPEL-FEIL SYNDROME 4 AUTOSOMAL RECESSIVE WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM,Klippel-Trenaunay syndrome,KMT2D multiple malformations disorder,KMT2E-related neurodevelopmental disorder/O'Donnell-Luria-Rodan syndrome,KMT5B syndrome,KNIEST DYSPLASIA,Knobloch syndrome,KNOBLOCH SYNDROME 1,KNOBLOCH SYNDROME 2,Knobloch Syndrome Type I,KNOPS BLOOD GROUP SYSTEM,Knuckle pads leuconychia and sensorineural deafness,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,Kohlschutter-Tonz Syndrome,KOHLSCHUTTER-TONZ SYNDROME-LIKE,Koolen-de Vries syndrome,Koolen-De Vries syndrome due to a point mutation,Kosaki overgrowth syndrome,Kostmann syndrome,KOWARSKI SYNDROME,KRABBE DISEASE,KRABBE DISEASE ATYPICAL DUE TO SAPOSIN A DEFICIENCY,KRT1-related diffuse nonepidermolytic keratoderma,KUFOR-RAKEB SYNDROME,Kuru,KURU SUSCEPTIBILITY TO,Kury-Isidor syndrome,Kuskokwim syndrome,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,Kyphoscoliotic Ehlers Danlos Syndrome,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,L-2-HYDROXYGLUTARIC ACIDURIA,L-Arginine:glycine amidinotransferase deficiency,L-FERRITIN DEFICIENCY,Lacrimal duct defect,LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME,LACRIMOAURICULODENTODIGITAL SYNDROME,LACRIMOAURICULODENTODIGITAL SYNDROME 1,LACRIMOAURICULODENTODIGITAL SYNDROME 2,Lacrimoauriculodentodigital syndrome 3,LACTASE DEFICIENCY CONGENITAL,LACTATE DEHYDROGENASE B DEFICIENCY,Lacticacidemia due to PDX1 deficiency,LACTOSE INTOLERANCE ADULT TYPE,LADD SYNDROME,Lafora disease,Laing early-onset distal myopathy,LAMA5-related multisystemic syndrome,Lamb-shaffer syndrome,Lamellar ichthyosis,Laminin subunit alpha 2-related congenital muscular dystrophy,LAMP2-related Danon disease,Landau-Kleffner syndrome,LANGER MESOMELIC DYSPLASIA,Langerhans cell histiocytosis,LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA,large cell lung carcinoma,large cell medulloblastoma,large cell neuroendocrine carcinoma,Large congenital melanocytic nevus,LARON SYNDROME,Laron syndrome with immunodeficiency,LARSEN SYNDROME,Larsen-like syndrome B3GAT3 type,Laryngo-onycho-cutaneous syndrome,LARYNGOONYCHOCUTANEOUS SYNDROME,Late infantile CACH syndrome,Late-infantile/juvenile Krabbe disease,Late-onset citrullinemia type I,Late-onset distal myopathy Markesbery-Griggs type,Late-onset junctional epidermolysis bullosa,Late-onset nephronophthisis,Late-onset retinal degeneration,Late-onset Steinert myotonic dystrophy,Lateral meningocele syndrome,Laterality defects,LATHOSTEROLOSIS,Lattice corneal dystrophy type 1,Lattice corneal dystrophy Type I,Laurence-Moon syndrome,Laurin-Sandrow syndrome,Leber cogenital amaurosis 11,Leber congenital amaurosis,LEBER CONGENITAL AMAUROSIS 1,LEBER CONGENITAL AMAUROSIS 10,LEBER CONGENITAL AMAUROSIS 11,LEBER CONGENITAL AMAUROSIS 12,LEBER CONGENITAL AMAUROSIS 13,LEBER CONGENITAL AMAUROSIS 14,LEBER CONGENITAL AMAUROSIS 15,LEBER CONGENITAL AMAUROSIS 16,Leber congenital amaurosis 17,LEBER CONGENITAL AMAUROSIS 19,Leber congenital amaurosis 2,LEBER CONGENITAL AMAUROSIS 3,LEBER CONGENITAL AMAUROSIS 4,LEBER CONGENITAL AMAUROSIS 5,LEBER CONGENITAL AMAUROSIS 6,LEBER CONGENITAL AMAUROSIS 7,LEBER CONGENITAL AMAUROSIS 8,LEBER CONGENITAL AMAUROSIS 9,LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS,Leber hereditary optic neuropathy,LEBER HEREDITARY OPTIC NEUROPATHY AUTOSOMAL RECESSIVE,LEBER HEREDITARY OPTIC NEUROPATHY MODIFIER OF,LEBER OPTIC ATROPHY,Leber plus disease,LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY,Left ventricular noncompaction,LEFT VENTRICULAR NONCOMPACTION 1,Left ventricular noncompaction 10,LEFT VENTRICULAR NONCOMPACTION 7,LEFT VENTRICULAR NONCOMPACTION 8,LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION,Legg-Calve-Perthes disease,LEGIUS SYNDROME,Leigh syndrome,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY,LEIGH SYNDROME DUP,LEIGH SYNDROME FRENCH CANADIAN TYPE,Leigh Syndrome with Instability of the Small Mitoribosomal Subunit,Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.,LEIOMYOMATOSIS AND RENAL CELL CANCER,leiomyosarcoma,Lennox-Gastaut syndrome,Lenz-Majewski hyperostotic dwarfism,LEOPARD syndrome 1,LEOPARD SYNDROME 2,LEOPARD SYNDROME 3,LEOPARD syndrome type 1,LEOPARD SYNDROME TYPE 3,Leprechaunism,LEPROSY SUSCEPTIBILITY TO 3,LEPROSY SUSCEPTIBILITY TO 4,LEPROSY SUSCEPTIBILITY TO 5,LEPTIN DEFICIENCY OR DYSFUNCTION,LEPTIN RECEPTOR DEFICIENCY,Leri Weill dyschondrosteosis,Leri-Weill dyschondrosteosis,LESCH-NYHAN SYNDROME,LESSEL-KREIENKAMP SYNDROME,LESSEL-KUBISCH SYNDROME,Lethal acantholytic erosive disorder,Lethal arteriopathy syndrome due to Fibulin-4 deficiency,Lethal arthroogryposis,Lethal ataxia with deafness and optic atrophy,Lethal brain and heart developmental defects,LETHAL CONGENITAL CONTRACTURE SYNDROME 1,LETHAL CONGENITAL CONTRACTURE SYNDROME 10,LETHAL CONGENITAL CONTRACTURE SYNDROME 11,LETHAL CONGENITAL CONTRACTURE SYNDROME 2,LETHAL CONGENITAL CONTRACTURE SYNDROME 3,LETHAL CONGENITAL CONTRACTURE SYNDROME 4,Lethal congenital contracture syndrome 5,Lethal congenital contracture syndrome 6,LETHAL CONGENITAL CONTRACTURE SYNDROME 7,LETHAL CONGENITAL CONTRACTURE SYNDROME 8,LETHAL CONGENITAL CONTRACTURE SYNDROME 9,Lethal congenital contracture syndrome type 1,lethal congenital contracture syndrome type 2,lethal congenital contracture syndrome type 3,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,Lethal hydranencephaly-diaphragmatic hernia syndrome,Lethal Infantile Epileptic Encephalopathy,Lethal infantile mitochondrial myopathy,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,Lethal multiple pterygium syndrome,Lethal neonatal rigidity and seizure syndrome,Lethal neonatal spasticity-epileptic encephalopathy syndrome,Lethal Neurometabolic Disorder of Early Childhood,Lethal occipital encephalocele-skeletal dysplasia syndrome,Lethal osteosclerotic bone dysplasia,Lethal polymalformative syndrome Boissel type,Lethal Restrictive Dermopathy ZMPSTE24-Related,Lethal tight skin contracture syndrome,LETM1-related neurodevelopmental disorder,Letrozole toxicity,LEUKEMIA ACUTE LYMPHOBLASTIC,Leukemia acute lymphoblastic susceptibility to 3,LEUKEMIA ACUTE MYELOID,LEUKEMIA CHRONIC MYELOID,Leukocyte adhesion deficiency type I,Leukocyte adhesion deficiency type II,Leukocyte adhesion deficiency type III,LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA,LEUKODYSTROPHY CHILDHOOD-ONSET REMITTING,LEUKODYSTROPHY DEMYELINATING ADULT-ONSET AUTOSOMAL DOMINANT,LEUKODYSTROPHY HYPOMYELINATING 10,LEUKODYSTROPHY HYPOMYELINATING 11,Leukodystrophy hypomyelinating 12,LEUKODYSTROPHY HYPOMYELINATING 13,LEUKODYSTROPHY HYPOMYELINATING 14,LEUKODYSTROPHY HYPOMYELINATING 15,LEUKODYSTROPHY HYPOMYELINATING 16,LEUKODYSTROPHY HYPOMYELINATING 17,LEUKODYSTROPHY HYPOMYELINATING 18,LEUKODYSTROPHY HYPOMYELINATING 19 TRANSIENT INFANTILE,LEUKODYSTROPHY HYPOMYELINATING 2,LEUKODYSTROPHY HYPOMYELINATING 20,LEUKODYSTROPHY HYPOMYELINATING 21,LEUKODYSTROPHY HYPOMYELINATING 22,LEUKODYSTROPHY HYPOMYELINATING 23 WITH ATAXIA DEAFNESS LIVER DYSFUNCTION AND DILATED CARDIOMYOPATHY,LEUKODYSTROPHY HYPOMYELINATING 24,LEUKODYSTROPHY HYPOMYELINATING 25,Leukodystrophy hypomyelinating 26 with chondrodysplasia,LEUKODYSTROPHY HYPOMYELINATING 3,LEUKODYSTROPHY HYPOMYELINATING 4,LEUKODYSTROPHY HYPOMYELINATING 5,LEUKODYSTROPHY HYPOMYELINATING 6,LEUKODYSTROPHY HYPOMYELINATING 7 WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM,LEUKODYSTROPHY HYPOMYELINATING 8 WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM,LEUKODYSTROPHY HYPOMYELINATING 9,LEUKODYSTROPHY HYPOMYELINATING TYPE 1,LEUKODYSTROPHY HYPOMYELINATING TYPE 4,LEUKODYSTROPHY HYPOMYELINATING TYPE 5,LEUKODYSTROPHY PROGRESSIVE EARLY CHILDHOOD-ONSET,LEUKOENCEPHALOPATHY ACUTE REVERSIBLE WITH INCREASED URINARY ALPHA-KETOGLUTARATE,LEUKOENCEPHALOPATHY BRAIN CALCIFICATIONS AND CYSTS,LEUKOENCEPHALOPATHY CYSTIC WITHOUT MEGALENCEPHALY,LEUKOENCEPHALOPATHY DEVELOPMENTAL DELAY AND EPISODIC NEUROLOGIC REGRESSION SYNDROME,LEUKOENCEPHALOPATHY HEREDITARY DIFFUSE WITH SPHEROIDS 1,LEUKOENCEPHALOPATHY HEREDITARY DIFFUSE WITH SPHEROIDS 2,LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS,LEUKOENCEPHALOPATHY MOTOR DELAY SPASTICITY AND DYSARTHRIA SYNDROME,LEUKOENCEPHALOPATHY PROGRESSIVE INFANTILE-ONSET WITH OR WITHOUT DEAFNESS,LEUKOENCEPHALOPATHY PROGRESSIVE WITH OVARIAN FAILURE,LEUKOENCEPHALOPATHY WITH ATAXIA,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION,Leukoencephalopathy with calcifications and cysts,Leukoencephalopathy with cerebral calcification and cysts,LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1,Leukoencephalopathy with vanishing white matter 2,Leukoencephalopathy with vanishing white matter 3,Leukoencephalopathy with vanishing white matter 4,Leukoencephalopathy with vanishing white matter 5,Leukoencephalopathy-dystonia-motor neuropathy syndrome,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,Leukonychia totalis,LEUKOTRIENE C4 SYNTHASE DEFICIENCY,Leydig cell hypoplasia due to complete LH resistance,Leydig cell hypoplasia due to LHB deficiency,Leydig cell hypoplasia due to partial LH resistance,LEYDIG CELL HYPOPLASIA TYPE I,LHERMITTE-DUCLOS DISEASE,LHX4-Related Combined Pituitary Hormone Deficiency,LI-CAMPEAU SYNDROME,Li-Fraumeni syndrome,LI-FRAUMENI SYNDROME 2,LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME,LIANG-WANG SYNDROME,LIBERFARB SYNDROME,Lichtenstein-Knorr syndrome,LIDDLE SYNDROME,LIDDLE SYNDROME 1,LIDDLE SYNDROME 2,LIDDLE SYNDROME 3,LIEBENBERG SYNDROME,LIG4 SYNDROME,Limb-girdle muscular dystrophy due to POMK deficiency,LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H,LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L,LIMB-MAMMARY SYNDROME,Limited cutaneous systemic sclerosis,Limited systemic sclerosis,Linear hypopigmentation and craniofacial asymmetry with acral ocular and brain anomalies,Linear nevus sebaceus syndrome,LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1,LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2,LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3,LINGO1 related intellectual disability with microcephaly speech and motor delay,Lipase deficiency combined,LIPE-related familial partial lipodystrophy,LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY,Lipodystrophy congenital generalised type 1,Lipodystrophy congenital generalised type 2,LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 1,LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 2,LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 3,LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 4,LIPODYSTROPHY FAMILIAL PARTIAL TYPE 2,LIPODYSTROPHY FAMILIAL PARTIAL TYPE 3,LIPODYSTROPHY FAMILIAL PARTIAL TYPE 4,LIPODYSTROPHY FAMILIAL PARTIAL TYPE 5,LIPODYSTROPHY FAMILIAL PARTIAL TYPE 6,LIPODYSTROPHY FAMILIAL PARTIAL TYPE 7,LIPODYSTROPHY PARTIAL ACQUIRED SUSCEPTIBILITY TO,Lipoic acid synthetase deficiency,LIPOID CONGENITAL ADRENAL HYPERPLASIA,Lipoid proteinosis,LIPOID PROTEINOSIS OF URBACH AND WIETHE,LIPOPROTEIN GLOMERULOPATHY,LIPOPROTEINa QUANTITATIVE TRAIT LOCUS,Lipoyl transferase 1 deficiency,Lipoyl transferase 2 deficiency,LIPOYLTRANSFERASE 1 DEFICIENCY,LISSENCEPHALY 1,LISSENCEPHALY 10,Lissencephaly 2,LISSENCEPHALY 3,Lissencephaly 4,LISSENCEPHALY 5,Lissencephaly 6 with microcephaly,LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA,LISSENCEPHALY 8,LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION,Lissencephaly due to LIS1 mutation,Lissencephaly due to TUBA1A mutation,Lissencephaly Subcortical Heterotopia and Global Developmental Delay,Lissencephaly syndrome Norman-Roberts type,LISSENCEPHALY TYPE 1,Lissencephaly type 1 due to doublecortin gene mutation,LISSENCEPHALY TYPE 3,LISSENCEPHALY X-LINKED 1,LISSENCEPHALY X-LINKED 2,LISSENCEPHALY X-LINKED TYPE 1,Liver Cavernous Hemangioma,Liver Diffuse Large B-Cell Lymphoma,LIVER DISEASE SEVERE CONGENITAL,LIVER FAILURE INFANTILE TRANSIENT,LMBRD2-associated intellectual disability,LMNA-related cardiocutaneous progeria syndrome,LMNA-related DCM,LMNB1-associated developmental disorder,LMNB2-related Primary Microcephaly,LNPK-associated neurodevelopmental disorder,Lobar holoprosencephaly,lobular breast carcinoma,Lobular Breast Carcinoma In Situ,Localized dystrophic epidermolysis bullosa acral form,Localized dystrophic epidermolysis bullosa nails only,Localized dystrophic epidermolysis bullosa pretibial form,Localized epidermolysis bullosa simplex,Localized junctional epidermolysis bullosa,Loeys-Dietz syndrome,LOEYS-DIETZ SYNDROME 1,LOEYS-DIETZ SYNDROME 2,LOEYS-DIETZ SYNDROME 3,LOEYS-DIETZ SYNDROME 4,LOEYS-DIETZ SYNDROME 5,LOEYS-DIETZ SYNDROME 6,LOEYS-DIETZ SYNDROME TYPE 4,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,LONG QT SYNDROME 1,LONG QT SYNDROME 10,LONG QT SYNDROME 11,LONG QT SYNDROME 12,Long QT syndrome 13,LONG QT SYNDROME 14,LONG QT SYNDROME 15,LONG QT SYNDROME 16,LONG QT SYNDROME 2,LONG QT SYNDROME 3,LONG QT SYNDROME 5,LONG QT SYNDROME 6,Long QT syndrome 8,LONG QT SYNDROME 9,LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY,LONP1-associated congenital diaphragmatic hernia,LOPES-MACIEL-RODAN SYNDROME,Low density lipoprotein cholesterol level quantitative trait locus 6,LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7,LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8,Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes,Low phospholipid associated cholelithiasis,LOWE OCULOCEREBRORENAL SYNDROME,Lower motor neuron syndrome with late-adult onset,LOWER URINARY TRACT OBSTRUCTION CONGENITAL,Lowry-Wood syndrome,LRP5-related primary osteoporosis,LTBP1-related cutis laxa and craniosynostosis,LUJAN-FRYNS SYNDROME,Lung adenocarcinoma,LUNG CANCER ALVEOLAR CELL CARCINOMA INCLUDED,Lung carcinoma,LUNG DISEASE IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME,Lung Sclerosing Hemangioma,LUO-SCHOCH-YAMAMOTO SYNDROME,LUSCAN-LUMISH SYNDROME,LUTHERAN NULL,LYMPHANGIOLEIOMYOMATOSIS,LYMPHATIC MALFORMATION 1,LYMPHATIC MALFORMATION 10,LYMPHATIC MALFORMATION 11,LYMPHATIC MALFORMATION 12,Lymphatic malformation 13,LYMPHATIC MALFORMATION 3,LYMPHATIC MALFORMATION 4,LYMPHATIC MALFORMATION 6,LYMPHATIC MALFORMATION 7,LYMPHATIC MALFORMATION 8,LYMPHATIC MALFORMATION 9,Lymphedema hereditary ic,LYMPHEDEMA PRIMARY WITH MYELODYSPLASIA,LYMPHEDEMA-DISTICHIASIS SYNDROME,Lymphedema-posterior choanal atresia syndrome,LYMPHOID ENHANCER-BINDING FACTOR 1,lymphoid neoplasm,LYMPHOMA HODGKIN CLASSIC,LYMPHOMA MUCOSA-ASSOCIATED LYMPHOID TYPE,LYMPHOMA NON-HODGKIN FAMILIAL,Lymphomatoid papulosis,Lymphoproliferative syndrome,LYMPHOPROLIFERATIVE SYNDROME 1,LYMPHOPROLIFERATIVE SYNDROME 2,LYMPHOPROLIFERATIVE SYNDROME 3,Lymphoproliferative syndrome X-linked,LYMPHOPROLIFERATIVE SYNDROME X-LINKED 1,LYMPHOPROLIFERATIVE SYNDROME X-LINKED 2,Lynch syndrome,Lynch syndrome 1,LYNCH SYNDROME 2,LYNCH SYNDROME 4,LYNCH SYNDROME 5,LYNCH SYNDROME 8,LYSINURIC PROTEIN INTOLERANCE,Lysosomal acid lipase deficiency,LYSOSOMAL ALPHA-MANNOSIDOSIS,LYSOSOMAL BETA-MANNOSIDOSIS,LYSYL HYDROXYLASE 3 DEFICIENCY,MAC spectrum,MAC spectrum with limb anomalies,MACHADO-JOSEPH DISEASE,Machado-Joseph disease type 1,Machado-Joseph disease type 2,Machado-Joseph disease type 3,MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENT,MACROCEPHALY ALOPECIA CUTIS LAXA AND SCOLIOSIS TALL FOREHEAD SPARSE HAIR SKIN HYPEREXTENSIBILITY AND SCOLIOSIS,Macrocephaly and impaired speech and language,MACROCEPHALY DYSMORPHIC FACIES AND PSYCHOMOTOR RETARDATION,Macrocephaly macrosomia facial dysmorphism syndrome,Macrocephaly Neurodevelopmental Delay and Seizures,MACROCEPHALY NEURODEVELOPMENTAL DELAY LYMPHOID HYPERPLASIA AND PERSISTENT FETAL HEMOGLOBIN,Macrocephaly with intellectual disability,Macrocephaly-developmental delay syndrome,Macrocephaly-intellectual disability-autism syndrome,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,MACROCEPHALY/AUTISM SYNDROME,Macrocephaly/megalencephaly syndrome autosomal recessive,MACRODACTYLY,Macrodactyly of fingers unilateral,Macrodactyly of toes unilateral,MACROGLOBULINEMIA WALDENSTROM SUSCEPTIBILITY TO 1,Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss,MACROTHROMBOCYTOPENIA ISOLATED 1 AUTOSOMAL DOMINANT,MACROTHROMBOCYTOPENIA ISOLATED 2 AUTOSOMAL DOMINANT,Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,Macular corneal dystrophy,MACULAR DEGENERATION AGE-RELATED 1,MACULAR DEGENERATION AGE-RELATED 11,MACULAR DEGENERATION AGE-RELATED 12,MACULAR DEGENERATION AGE-RELATED 13,MACULAR DEGENERATION AGE-RELATED 14,MACULAR DEGENERATION AGE-RELATED 15,MACULAR DEGENERATION AGE-RELATED 2,Macular degeneration age-related 3,MACULAR DEGENERATION AGE-RELATED 4,MACULAR DEGENERATION AGE-RELATED 5,MACULAR DEGENERATION AGE-RELATED 6,MACULAR DEGENERATION AGE-RELATED 7,MACULAR DEGENERATION AGE-RELATED 8,MACULAR DEGENERATION AGE-RELATED 9,MACULAR DEGENERATION EARLY-ONSET,Macular degeneration juvenile,MACULAR DEGENERATION X-LINKED ATROPHIC,Macular dystrophy,Macular dystrophy butterfly-shaped pigmentary 2,MACULAR DYSTROPHY CORNEAL,MACULAR DYSTROPHY PATTERNED 1,MACULAR DYSTROPHY PATTERNED 2,MACULAR DYSTROPHY PATTERNED 3,MACULAR DYSTROPHY RETINAL 2,MACULAR DYSTROPHY RETINAL 4,MACULAR DYSTROPHY VITELLIFORM 2,MACULAR DYSTROPHY VITELLIFORM 3,MACULAR DYSTROPHY VITELLIFORM 4,MACULAR DYSTROPHY VITELLIFORM 5,MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT,MADD-related developmental disorder,Maffucci syndrome,MAGEL2-related Prader-Willi-like syndrome,Mahvash disease,Mainzer-Saldino Syndrome,MAJEED SYNDROME,MAJOR AFFECTIVE DISORDER 7,MAJOR DEPRESSIVE DISORDER,MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I B,Major Salivary Gland Carcinoma,Major Salivary Gland Mucoepidermoid Carcinoma,MAL DE MELEDA,Malan overgrowth syndrome,MALAN SYNDROME,MALARIA MILD SUSCEPTIBILITY TO,MALARIA SUSCEPTIBILITY TO MALARIA RESISTANCE TO INCLUDED,Malate-Aspartate Shuttle-Related Encephalopathy,Male infertility due to acephalic spermatozoa,Male infertility due to globozoospermia,Male infertility due to large-headed multiflagellar polyploid spermatozoa,Male infertility with azoospermia or oligozoospermia due to single gene mutation,MALEYLACETOACETATE ISOMERASE DEFICIENCY,Malformations of cortical development and microcephaly.,Maligant granulosa cell tumor of the ovary,Malignant Bladder Paraganglioma,malignant epithelioid mesothelioma,Malignant Germ Cell Tumor,Malignant hyperthermia of anesthesia,MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TO 1,MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TO 5,Malignant Mesothelioma,Malignant migrating focal seizures of infancy,Malignant migrating partial seizures of infancy,Malignant Mixed Neoplasm,Malignant Ovarian Brenner Tumor,Malignant Ovarian Mixed Epithelial Tumor,Malignant Pancreatic Neoplasm,Malignant peripheral nerve sheath tumor,Malignant peripheral nerve sheath tumor with perineurial differentiation,malignant rhabdoid tumour,Malignant Sertoli-Leydig cell tumor of the ovary,Malignant triton tumor,Malonic aciduria,MALONYL-CoA DECARBOXYLASE DEFICIENCY,MALT lymphoma,MAN1B1-CDG,MAN2A2-related disorder of glycosylation,MAN2C1-associated neurodevelopmental disorder with cerebral malformations,Mandibular hypoplasia deafness progeroid features and lipodystrophy syndrome,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,Mandibuloacral dysplasia associated to MTX2,MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME,MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY,MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY,MANDIBULOFACIAL DYSOSTOSIS GUION-ALMEIDA TYPE,MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA,MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY,Mandibulofacial dysostosis-microcephaly syndrome,Manitoba oculotrichoanal syndrome,MANNOSE-BINDING LECTIN DEFICIENCY,MANNOSIDOSIS ALPHA B LYSOSOMAL,Mannosidosis alpha- types I and II,MANNOSIDOSIS BETA A LYSOSOMAL,MANTLE CELL LYMPHOMA,MAPK1-related Neurodevelopmental Disorder,MAPKAPK5-associated syndrome with synpolydactyly,Maple Syrup Urine Disease,MAPLE SYRUP URINE DISEASE MILD VARIANT,MARBACH-RUSTAD PROGEROID SYNDROME,Marden-Walker syndrome,Marfan Syndrome,Marfan Syndrome biallelic,MARFAN SYNDROME biallelic loss of function,Marfan syndrome type 1,Marfan syndrome type 2,Marfanoid Habitus and Cognitive Impairment,Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome,MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME,Marie Unna hereditary hypotrichosis,Marinesco-Sjogren syndrome,MARSHALL SYNDROME,MARSHALL-SMITH SYNDROME,MARSILI SYNDROME,Martinez-Frias syndrome,Martinique crinkled retinal pigment epitheliopathy,MARTSOLF SYNDROME,MARTSOLF SYNDROME 1,MARTSOLF SYNDROME 2,MASA SYNDROME,MASP2 DEFICIENCY,MASS syndrome,Mast Cell Neoplasm,MAST SYNDROME,mast-cell leukemia,MAST1-related developmental disorder monoallelic,MASTOCYTOSIS CUTANEOUS,Maternal phenylketonuria,Maternal riboflavin deficiency,Maternally inherited diabetes and deafness,Matthew-Wood syndrome,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 10,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 11,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 13,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 14,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 2,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 3,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 4,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 6,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 7,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 8 WITH EXOCRINE DYSFUNCTION,MATURITY-ONSET DIABETES OF THE YOUNG TYPE 9,MAU2 neurodevelopmental disorder,Mayer-Rokitansky-Kuster-Hauser syndrome type 2,Mazabraud syndrome,MBD4 multi-tumour predisposition syndrome,McCune-Albright syndrome,McKusick-Kaufman syndrome,McLeod neuroacanthocytosis syndrome,MCLEOD SYNDROME,MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency,MEACHAM SYNDROME,Meckel syndrome,Meckel syndrome 12,Meckel syndrome 13,MECKEL SYNDROME 14,Meckel syndrome 9,MECKEL SYNDROME TYPE 1,MECKEL SYNDROME TYPE 10,Meckel syndrome type 11,MECKEL SYNDROME TYPE 2,MECKEL SYNDROME TYPE 3,MECKEL SYNDROME TYPE 4,MECKEL SYNDROME TYPE 5,MECKEL SYNDROME TYPE 6,MECKEL SYNDROME TYPE 7,MECKEL SYNDROME TYPE 8,MECKEL SYNDROME TYPE 9,Meconium Ileus,MED11-associated neurodevelopmental disorder,MED12-related Developmental Disorder,MED13 - Neurodevelopment disorder,MED27-related neurodevelopmental disorder,Mediastinal Neuroblastoma,Medium chain acyl-CoA dehydrogenase deficiency,Medium-chain acyl-coenzyme A dehydrogenase deficiency,MEDNIK syndrome,MEDNIK-like Syndrome,medullary breast carcinoma,Medullary sponge kidney,Medullary thyroid carcinoma,Medulloblastoma,MEDULLOBLASTOMA ASSOCIATED WITH GORLIN SYNDROME,Medulloblastoma with extensive nodularity,MEESMANN CORNEAL DYSTROPHY,MEESTER-LOEYS SYNDROME,MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS,MEGABLADDER CONGENITAL,Megaconial congenital muscular dystrophy,Megacystis Microcolon Intestinal Hypoperistalsis Syndrome,Megacystis-microcolon-intestinal hypoperistalsis syndrome,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 1,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5,Megakaryoblastic acute myeloid leukemia with t1,Megalencephalic leukoencephalopathy with subcortical cysts,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B REMITTING WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT,Megalencephaly-capillary malformation-polymicrogyria syndrome,Megalencephaly-Capillary malformation-Polymicrogyria syndrome somatic  3,MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME,MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1,MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2,Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,Megaloblastic anemia due to dihydrofolate reductase deficiency,MEGALOBLASTIC ANEMIA FOLATE-RESPONSIVE,MEGALOCORNEA,Megalocornea X-linked,MEGDEL syndrome,MEHMO syndrome,Meier-Gorlin syndrome 1,Meier-Gorlin syndrome 2,Meier-Gorlin syndrome 3,Meier-Gorlin syndrome 4,Meier-Gorlin syndrome 5,MEIER-GORLIN SYNDROME 6,MEIER-GORLIN SYNDROME 7,MEIER-GORLIN SYNDROME 8,Meier-Gorlin Syndrome and Craniosynostosis,Meige disease,MEIS2-related developmental disorder monoallelic,Melanocytic nevus syndrome congenital,Melanoma,Melanoma and neural system tumor syndrome,Melanoma cutaneous malignant,MELANOMA CUTANEOUS MALIGNANT 2,MELANOMA CUTANEOUS MALIGNANT 3,MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 1,MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 10,MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 2,MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 3,MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 5,MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 6,MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 8,MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 9,Melanoma of soft tissue,Melanoma uveal susceptibility to 1,Melanoma uveal susceptibility to 2,MELANOMA-ASTROCYTOMA SYNDROME,Melanoma-pancreatic cancer syndrome,Melanosis neurocutaneous,MELAS,MELNICK-NEEDLES SYNDROME,MELORHEOSTOSIS ISOLATED,Melorheostosis with osteopoikilosis,MEMORY QUANTITATIVE TRAIT LOCUS,MEND syndrome,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,Meningioma,Meningioma familial,MENINGIOMA FAMILIAL SUSCEPTIBILITY TO,Menke-Hennekam syndrome,Menke-Hennekam syndrome 1,MENKE-HENNEKAM SYNDROME 2,MENKES DISEASE,Menstrual cycle-dependent periodic fever,MEPAN syndrome,Merkel cell skin cancer,MERRF,Mesoaxial synostotic syndactyly with phalangeal reduction,Mesoaxial synostotic syndactyly with phalangeal reduction malik-Percin type,Mesomelic dysplasia-digital anomalies-intellectual disability syndrome,MESOTHELIOMA MALIGNANT,METABOLIC CRISES RECURRENT WITH RHABDOMYOLYSIS CARDIAC ARRHYTHMIAS AND NEURODEGENERATION,METABOLIC CRISES RECURRENT WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION,Metabolic myopathy due to lactate transporter defect,METACARPAL 4-5 FUSION,Metachondromatosis,METACHROMATIC LEUKODYSTROPHY,Metachromatic leukodystrophy adult form,METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY,Metachromatic leukodystrophy juvenile form,Metachromatic leukodystrophy late infantile form,Metaphyseal anadysplasia,Metaphyseal anadysplasia 2,METAPHYSEAL ANADYSPLASIA TYPE 1,Metaphyseal chondrodysplasia Jansen type,METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE,Metaphyseal chondrodysplasia Spahr type,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,METAPHYSEAL DYSPLASIA SPAHR TYPE,METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY,Metaphyseal dysplasia without hypotrichosis,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,METATROPIC DYSPLASIA,METHEMOGLOBINEMIA ALPHA TYPE,METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA,METHEMOGLOBINEMIA BETA TYPE,METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE,methionine adenosyltransferase deficiency,METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY,Methylcobalamin deficiency type cblDv1,Methylcobalamin deficiency type cblE,Methylcobalamin deficiency type cblG,METHYLCOBALAMIN DEFICIENCY TYPE G,Methylenetetrahydrofolate reductase deficiency,METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,Methylmalonic acidemia with homocystinuria type cblC,Methylmalonic acidemia with homocystinuria type cblD,Methylmalonic acidemia with homocystinuria type cblF,Methylmalonic acidemia with homocystinuria type cblJ,Methylmalonic acidemia with homocystinuria type cblX,METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblC TYPE,METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblD TYPE,METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblF TYPE,METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblJ TYPE,METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblX TYPE,METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD,methylmalonic aciduria and homocystinuria type cblF,METHYLMALONIC ACIDURIA cblA TYPE,METHYLMALONIC ACIDURIA cblB TYPE,METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY,METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT,METHYLMALONIC ACIDURIA TRANSIENT DUE TO TRANSCOBALAMIN RECEPTOR DEFECT,methylmalonic aciduria type cblA,Methylmalonic aciduria type cblB,methylmalonic aciduria type mut,METHYLMALONYL-CoA EPIMERASE DEFICIENCY,Metopic ridging-ptosis-facial dysmorphism syndrome,METTL23-related Intellectual Disability,MEVALONIC ACIDURIA,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,MFN2-related developmental disorder,MFSD8-Related Neuronal Ceroid-Lipofuscinosis,MGAT2-CDG,MIB1-related developmental disorder monoallelic,Micro syndrome,MICROANGIOPATHY AND LEUKOENCEPHALOPATHY PONTINE AUTOSOMAL DOMINANT,Microcephalic cortical malformations-short stature due to RTTN deficiency,Microcephalic dwarfism,Microcephalic osteodysplastic dysplasia Saul-Wilson type,MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE I,Microcephalic osteodysplastic primordial dwarfism type II,Microcephalic osteodysplastic primordial dwarfism types I and III,Microcephalic primordial dwarfism,Microcephalic primordial dwarfism Dauber type,Microcephalic primordial dwarfism due to ZNF335 deficiency,Microcephalic primordial dwarfism-insulin resistance syndrome,Microcephaly,MICROCEPHALY 1 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 10 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 11 PRIMARY AUTOSOMAL RECESSIVE,Microcephaly 12 primary autosomal recessive,Microcephaly 13 primary autosomal recessive,MICROCEPHALY 14 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 16 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 18 PRIMARY AUTOSOMAL DOMINANT,MICROCEPHALY 19 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 2 PRIMARY AUTOSOMAL RECESSIVE WITH OR WITHOUT CORTICAL MALFORMATIONS,MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 22 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 23 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 24 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 25 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 26 PRIMARY AUTOSOMAL DOMINANT,MICROCEPHALY 27 PRIMARY AUTOSOMAL DOMINANT,MICROCEPHALY 28 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 29 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 3 PRIMARY AUTOSOMAL RECESSIVE,Microcephaly 30 primary autosomal recessive,MICROCEPHALY 4 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 5 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 6 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 7 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 8 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY 9 PRIMARY AUTOSOMAL RECESSIVE,MICROCEPHALY AMISH TYPE,MICROCEPHALY AND CHORIORETINOPATHY AUTOSOMAL RECESSIVE 1,Microcephaly and chorioretinopathy autosomal recessive 2,MICROCEPHALY AND CHORIORETINOPATHY AUTOSOMAL RECESSIVE 3,MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER,Microcephaly and Lissencephaly Spectrum Disorders,MICROCEPHALY CATARACTS IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSTONIA WITH ABNORMAL STRIATUM,MICROCEPHALY CONGENITAL CATARACT AND PSORIASIFORM DERMATITIS,MICROCEPHALY CORTICAL MALFORMATIONS AND INTELLECTUAL DEVELOPMENTAL DISORDER,Microcephaly Developmental Delay and Brittle Hair and Nails,MICROCEPHALY DEVELOPMENTAL DELAY AND BRITTLE HAIR SYNDROME,MICROCEPHALY EPILEPSY AND DIABETES SYNDROME 1,MICROCEPHALY EPILEPSY AND DIABETES SYNDROME 2,MICROCEPHALY FACIAL DYSMORPHISM RENAL AGENESIS AND AMBIGUOUS GENITALIA SYNDROME,MICROCEPHALY GROWTH DEFICIENCY SEIZURES AND BRAIN MALFORMATIONS,Microcephaly growth failure and retinopathy,MICROCEPHALY GROWTH RESTRICTION AND INCREASED SISTER CHROMATID EXCHANGE 2,Microcephaly hearing loss and dysmorphic features,Microcephaly postnatal progressive with seizures and brain atrophy,MICROCEPHALY PRIMARY TYPE 1,microcephaly primary type 7,Microcephaly progressive seizures and cerebral and cerebellar atrophy,Microcephaly progressive with seizures and cerebral and cerebellar atrophy,MICROCEPHALY SEIZURES AND DEVELOPMENTAL DELAY,MICROCEPHALY SHORT STATURE AND IMPAIRED GLUCOSE METABOLISM 1,MICROCEPHALY SHORT STATURE AND IMPAIRED GLUCOSE METABOLISM 2,MICROCEPHALY SHORT STATURE AND LIMB ABNORMALITIES,MICROCEPHALY SHORT STATURE AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES,MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY LYMPHEDEMA OR IMPAIRED INTELLECTUAL DEVELOPMENT,MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY LYMPHEDEMA OR INTELLECTUAL DEVELOPMENTAL DISORDER,Microcephaly with short stature,MICROCEPHALY-CAPILLARY MALFORMATION MIC-CAP SYNDROME,Microcephaly-capillary malformation syndrome,Microcephaly-complex motor and sensory axonal neuropathy syndrome,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,Microcephaly-lymphedema-chorioretinopathy syndrome,Microcephaly-micromelia syndrome,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,Microcephaly-short stature-limb abnormalities syndrome,Microcephaly-thin corpus callosum-intellectual disability syndrome,Microcornea myopic chorioretinal atrophy and telecanthus,Microcornea rod-cone dystrophy cataract and posterior staphyloma,MICROCORNEA ROD-CONE DYSTROPHY CATARACT AND POSTERIOR STAPHYLOMA 1,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,Microcystic stromal tumor,Microcytic anemia with liver iron overload,Microduplication Xp11.22-p11.23 syndrome,Microform holoprosencephaly,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,MICROHYDRANENCEPHALY,Microphthalmia,Microphthalmia and Diaphragmatic Hernia,MICROPHTHALMIA ISOLATED 2,MICROPHTHALMIA ISOLATED 4,MICROPHTHALMIA ISOLATED 5,MICROPHTHALMIA ISOLATED 6,MICROPHTHALMIA ISOLATED 7,MICROPHTHALMIA ISOLATED 8,microphthalmia isolated type 2,MICROPHTHALMIA ISOLATED TYPE 3,MICROPHTHALMIA ISOLATED TYPE 5,MICROPHTHALMIA ISOLATED TYPE 6,MICROPHTHALMIA ISOLATED WITH CATARACT 2,MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4,Microphthalmia isolated with coloboma,MICROPHTHALMIA ISOLATED WITH COLOBOMA 10,MICROPHTHALMIA ISOLATED WITH COLOBOMA 3,MICROPHTHALMIA ISOLATED WITH COLOBOMA 5,MICROPHTHALMIA ISOLATED WITH COLOBOMA 6,Microphthalmia isolated with coloboma 7,MICROPHTHALMIA ISOLATED WITH COLOBOMA 9,microphthalmia isolated with coloboma type 5,Microphthalmia Lenz type,MICROPHTHALMIA SYNDROMIC 1,MICROPHTHALMIA SYNDROMIC 11,Microphthalmia syndromic 12,Microphthalmia syndromic 12 monoallelic dominant negative,Microphthalmia syndromic 13,MICROPHTHALMIA SYNDROMIC 14,MICROPHTHALMIA SYNDROMIC 14 monoallelic activating,MICROPHTHALMIA SYNDROMIC 16,MICROPHTHALMIA SYNDROMIC 2,MICROPHTHALMIA SYNDROMIC 3,MICROPHTHALMIA SYNDROMIC 5,MICROPHTHALMIA SYNDROMIC 6,MICROPHTHALMIA SYNDROMIC 9,MICROPHTHALMIA SYNDROMIC TYPE 2,MICROPHTHALMIA SYNDROMIC TYPE 3,MICROPHTHALMIA SYNDROMIC TYPE 5,MICROPHTHALMIA SYNDROMIC TYPE 7,MICROPHTHALMIA SYNDROMIC TYPE 8,MICROPHTHALMIA SYNDROMIC TYPE 9,Microphthalmia with brain and digit anomalies,MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES,Microphthalmia with coloboma 6,MICROPHTHALMIA WITH LIMB ANOMALIES,MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME,Microphthalmia with Linear Skin Lesions,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME,Microspherophakia,MICROSPHEROPHAKIA AND/OR MEGALOCORNEA WITH ECTOPIA LENTIS AND WITHOR WITHOUT SECONDARY GLAUCOMA,Microtia,MICROTIA HEARING IMPAIRMENT AND CLEFT PALATE MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT INCLUDED,MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 1,MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 2,MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 3,MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 4,MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 5,MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 6,MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 7,MICROVILLUS INCLUSION DISEASE,Midface hypoplasia hearing impairment elliptocytosis and nephrocalcinosis,Midline interhemispheric variant of holoprosencephaly,Midline-bridging neuronal commissure disruption horizontal gaze palsy scoliosis and intellectual disability,MIGRAINE FAMILIAL HEMIPLEGIC 1,MIGRAINE FAMILIAL HEMIPLEGIC 2,MIGRAINE FAMILIAL HEMIPLEGIC 3,MIGRAINE FAMILIAL HEMIPLEGIC ATP1A2-related,MIGRAINE WITH OR WITHOUT AURA SUSCEPTIBILITY TO 1,MIGRAINE WITH OR WITHOUT AURA SUSCEPTIBILITY TO 13,Mild Canavan disease,Mild hemophilia A,Mild hemophilia B,Mild hyperphenylalaninemia,Mild phenylketonuria,Mild phosphoribosylpyrophosphate synthetase superactivity,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,Miller-Dieker syndrome,Milroy Disease,MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA,Minimal pigment oculocutaneous albinism type 1,MIR140-related spondyloepiphyseal dysplasia,MIRAGE - myelodysplasia infection restriction of growth adrenal hypoplasia genital phenotypes enteropathy,MIRAGE SYNDROME,MIRROR MOVEMENTS 1,MIRROR MOVEMENTS 2,MIRROR MOVEMENTS 3,MIRROR MOVEMENTS 4,Mirror-image polydactyly,MISMATCH REPAIR CANCER SYNDROME,MISMATCH REPAIR CANCER SYNDROME 1,MISMATCH REPAIR CANCER SYNDROME 2,MISMATCH REPAIR CANCER SYNDROME 3,MISMATCH REPAIR CANCER SYNDROME 4,MiT family translocation renal cell carcinoma,MITCHELL SYNDROME,Mitchell-Riley syndrome,MITF-related melanoma and renal cell carcinoma predisposition syndrome,Mitochondrial complex I deficiency,Mitochondrial complex I deficiency nuclear type 1,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 10,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 11,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 12,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 13,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 14,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 15,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 16,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 17,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 18,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 19,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 2,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 20,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 21,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 22,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 23,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 24,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 25,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 26,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 27,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 28,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 29,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 3,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 30,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 31,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 32,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 33,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 34,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 35,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 36,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 37,Mitochondrial complex I deficiency nuclear type 39,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 4,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 5,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 6,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 7,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 8,MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 9,Mitochondrial complex II deficiency,MITOCHONDRIAL COMPLEX II DEFICIENCY NUCLEAR TYPE 1,MITOCHONDRIAL COMPLEX II DEFICIENCY NUCLEAR TYPE 2,MITOCHONDRIAL COMPLEX II DEFICIENCY NUCLEAR TYPE 3,MITOCHONDRIAL COMPLEX II DEFICIENCY NUCLEAR TYPE 4,MITOCHONDRIAL COMPLEX III DEFICIENCY,Mitochondrial Complex III Deficiency Cardiomyopathy and Alopecia Totalis,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 1,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 10,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 11,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 2,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 3,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 4,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 5,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 6,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 8,MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 9,MITOCHONDRIAL COMPLEX IV DEFICIENCY,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 1,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 10,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 11,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 12,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 13,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 14,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 15,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 16,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 17,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 18,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 19,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 2,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 20,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 21,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 22,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 23,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 3,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 4,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 5,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 6,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 7,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 8,MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 9,Mitochondrial complex V (ATP synthase) deficiency nuclear type 4A,Mitochondrial complex V (ATP synthase) deficiency nuclear type 7,MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 1,MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 2,MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 3,MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 4B,MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 5,MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 6,Mitochondrial depletion syndrome,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE),MITOCHONDRIAL DNA DEPLETION SYNDROME 11,MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE) AUTOSOMAL DOMINANT,MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE) AUTOSOMAL RECESSIVE,Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type),Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type),MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE),MITOCHONDRIAL DNA DEPLETION SYNDROME 16 HEPATIC TYPE,MITOCHONDRIAL DNA DEPLETION SYNDROME 16B NEUROOPHTHALMIC TYPE,MITOCHONDRIAL DNA DEPLETION SYNDROME 17,MITOCHONDRIAL DNA DEPLETION SYNDROME 18,MITOCHONDRIAL DNA DEPLETION SYNDROME 19,MITOCHONDRIAL DNA DEPLETION SYNDROME 2 MYOPATHIC TYPE,Mitochondrial DNA depletion syndrome 20 (MNGIE type),MITOCHONDRIAL DNA DEPLETION SYNDROME 3 HEPATOCEREBRAL TYPE,Mitochondrial DNA depletion syndrome 4A,MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE),Mitochondrial DNA depletion syndrome 4B MNGIE type,MITOCHONDRIAL DNA DEPLETION SYNDROME 5 ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA,MITOCHONDRIAL DNA DEPLETION SYNDROME 6,MITOCHONDRIAL DNA DEPLETION SYNDROME 6 HEPATOCEREBRAL TYPE,MITOCHONDRIAL DNA DEPLETION SYNDROME 7 HEPATOCEREBRAL TYPE,MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY),MITOCHONDRIAL DNA DEPLETION SYNDROME 9 ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA,Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria,Mitochondrial DNA depletion syndrome encephalomyopathic form with renal tubulopathy,Mitochondrial DNA depletion syndrome encephalomyopathic form with variable craniofacial anomalies,Mitochondrial DNA depletion syndrome hepatocerebral form due to DGUOK deficiency,Mitochondrial DNA depletion syndrome hepatocerebrorenal form,Mitochondrial DNA Depletion Syndrome Myopathic Form,Mitochondrial DNA-associated Leigh syndrome,Mitochondrial DNA-related cardiomyopathy and hearing loss,Mitochondrial DNA-related progressive external ophthalmoplegia,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy,Mitochondrial membrane protein-associated neurodegeneration,Mitochondrial myopathy and sideroblastic anemia,MITOCHONDRIAL MYOPATHY ENCEPHALOPATHY LACTIC ACIDOSIS AND STROKE-LIKE EPISODES,MITOCHONDRIAL MYOPATHY EPISODIC WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY,Mitochondrial myopathy with lactic acidosis,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,Mitochondrial neurogastrointestinal encephalomyopathy,MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY,MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD,MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY,Mitochondrial recessive ataxia syndrome,MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY,Mitochondrial Respiratory Chain Complex III Deficiency UQCRB-Related,Mitochondrial Respiratory Chain Complex III Deficiency UQCRQ Related,Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies,MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY,Mitochondrial translation defect associated with hypertrophic cardiomyopathy lactic acidosis and encephalopathy,Mitochondrial trifunctional protein deficiency,MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1,Mitochondrial trifunctional protein deficiency 2,MITRAL VALVE PROLAPSE 2,MITRAL VALVE PROLAPSE 3,Mixed phenotype acute leukemia with t9;22q34.1;q11.2,Mixed phenotype acute leukemia with tv;11q23.3,MIYOSHI MUSCULAR DYSTROPHY 1,MIYOSHI MUSCULAR DYSTROPHY 3,MIYOSHI MYOPATHY,MME-related autosomal dominant Charcot Marie Tooth disease type 2,MMGT1-related developmental disorder,MMP15-related developmental disorder,MMP21-associated heterotaxy,MN1 C-terminal truncation syndrome,Moderate hemophilia A,Moderate hemophilia B,Moderate multiminicore disease with hand involvement,Moderate Sensorineural Hearing Loss,MODY,Moebius syndrome,MOGS-CDG,Mohr-Majewski Syndrome,MOHR-TRANEBJAERG SYNDROME,Molybdenum Cofactor Deficiency,Molybdenum cofactor deficiency B,MOLYBDENUM COFACTOR DEFICIENCY COMPLEMENTATION GROUP A,MOLYBDENUM COFACTOR DEFICIENCY COMPLEMENTATION GROUP B,Molybdenum cofactor deficiency complementation group C,MONILETHRIX,Monoamine oxidase A deficiency,MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY,Monocytopenia with susceptibility to infections,Monomelic amyotrophy,MONONEUROPATHY OF THE MEDIAN NERVE MILD,Monosomy 13q14,Monosomy 22q13.3,Monosomy 5p,MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1,MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2,Monosomy 9q22.3,Monostotic fibrous dysplasia,Morbid obesity and spermatogenic failure,MORC2 - axonal neuropathy and neurodevelopmental disorder,MORM syndrome,Morning glory disc anomaly,Mosaic Variegated Aneuploidy and Wilms Tumour,Mosaic variegated aneuploidy syndrome,MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1,Mosaic variegated aneuploidy syndrome 2,Mosaic variegated aneuploidy syndrome 3,MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4,Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition,Motile Cilia Defects and Situs Inversus,Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry,MOWAT-WILSON SYNDROME,Mowat-Wilson syndrome due to a ZEB2 point mutation,Mowat-Wilson syndrome due to monosomy 2q22,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,Moyamoya disease,MOYAMOYA DISEASE 2,Moyamoya disease 5,MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA,Moyamoya disease with early-onset achalasia,MPDU1-CDG,MPI-CDG,MRCS syndrome,MRX with/without nystagmus,MSH3-related attenuated familial adenomatous polyposis,MSI1-associated Microcephaly,MSL2-related developmental disorder monoallelic,MSL3 syndrome,MT-ATP6-related mitochondrial spastic paraplegia,MT-TL1-associated mitochondrial disorder,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,MTSS2-associated syndromic intellectual disability,MUC1-related autosomal dominant tubulointerstitial kidney disease,mucinous carcinoma,MUCKLE-WELLS SYNDROME,Mucociliary Clearance and Laterality Defects,Mucocutaneous venous malformations,MUCOEPITHELIAL DYSPLASIA HEREDITARY,MUCOLIPIDOSIS II ALPHA/BETA,MUCOLIPIDOSIS III ALPHA/BETA,MUCOLIPIDOSIS III GAMMA,MUCOLIPIDOSIS IV,MUCOLIPIDOSIS TYPE II,Mucolipidosis Type III Alpha/Beta,Mucolipidosis type III complementation group A,MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C,Mucolipidosis type III gamma,Mucolipidosis type IV,MUCOPOLYSACCHARIDOSIS TYPE 1S,MUCOPOLYSACCHARIDOSIS TYPE 2,Mucopolysaccharidosis type 2 attenuated form,Mucopolysaccharidosis type 2 severe form,MUCOPOLYSACCHARIDOSIS TYPE 3A,MUCOPOLYSACCHARIDOSIS TYPE 3B,MUCOPOLYSACCHARIDOSIS TYPE 3C,MUCOPOLYSACCHARIDOSIS TYPE 3D,Mucopolysaccharidosis type 4A,Mucopolysaccharidosis type 4B,MUCOPOLYSACCHARIDOSIS TYPE 6,Mucopolysaccharidosis type 6 rapidly progressing,Mucopolysaccharidosis type 6 slowly progressing,Mucopolysaccharidosis type 7,MUCOPOLYSACCHARIDOSIS TYPE 9,MUCOPOLYSACCHARIDOSIS TYPE II,MUCOPOLYSACCHARIDOSIS TYPE IIIA,MUCOPOLYSACCHARIDOSIS TYPE IIIB,MUCOPOLYSACCHARIDOSIS TYPE IIIC,MUCOPOLYSACCHARIDOSIS TYPE IIID,MUCOPOLYSACCHARIDOSIS TYPE IVA,MUCOPOLYSACCHARIDOSIS TYPE IVB,MUCOPOLYSACCHARIDOSIS TYPE IX,MUCOPOLYSACCHARIDOSIS TYPE VI,MUCOPOLYSACCHARIDOSIS TYPE VII,Mucopolysaccharidosis type X,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME,MUENKE SYNDROME,Muir-Torre syndrome,MULIBREY NANISM,MULLEGAMA-KLEIN-MARTINEZ SYNDROME,Mullerian aplasia and hyperandrogenism,Multicentric carpo-tarsal osteolysis with or without nephropathy,MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME,MULTICENTRIC OSTEOLYSIS NODULOSIS AND ARTHROPATHY,Multicentric osteolysis-nodulosis-arthropathy spectrum,Multifocal pattern dystrophy simulating fundus flavimaculatus,MULTINUCLEATED NEURONS ANHYDRAMNIOS RENAL DYSPLASIA CEREBELLAR HYPOPLASIA AND HYDRANENCEPHALY,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY,Multiple acyl-CoA dehydrogenase deficiency mild type,Multiple acyl-CoA dehydrogenase deficiency severe neonatal type,Multiple benign circumferential skin creases on limbs,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME X-LINKED,MULTIPLE ENDOCRINE NEOPLASIA 1,MULTIPLE ENDOCRINE NEOPLASIA IIA,Multiple endocrine neoplasia IIB,Multiple endocrine neoplasia type 1,Multiple endocrine neoplasia type 2A,Multiple endocrine neoplasia type 2B,Multiple endocrine neoplasia type 4,MULTIPLE ENDOCRINE NEOPLASIA TYPE I,MULTIPLE ENDOCRINE NEOPLASIA TYPE IIA,MULTIPLE ENDOCRINE NEOPLASIA TYPE IIB,MULTIPLE ENDOCRINE NEOPLASIA TYPE IV,Multiple epiphyseal dysplasia Al-Gazali type,Multiple epiphyseal dysplasia Beighton type,Multiple epiphyseal dysplasia due to collagen 9 anomaly,Multiple epiphyseal dysplasia type 1,MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2,MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3,Multiple epiphyseal dysplasia type 4,Multiple epiphyseal dysplasia type 5,MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6,Multiple epiphyseal dysplasia type 7,MULTIPLE FIBROADENOMAS OF THE BREAST,Multiple intestinal atresia,MULTIPLE JOINT DISLOCATIONS SHORT STATURE AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS,Multiple malformations of neural tube ear genitourinary and gastrointestinal systems,Multiple mitochondrial dysfunctions syndrome 1,Multiple mitochondrial dysfunctions syndrome 2,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6,Multiple mitochondrial dysfunctions syndrome type 1,Multiple mitochondrial dysfunctions syndrome type 2,Multiple mitochondrial dysfunctions syndrome type 3,Multiple mitochondrial dysfunctions syndrome type 4,Multiple mitochondrial dysfunctions syndrome type 5,Multiple mitochondrial dysfunctions syndrome type 6,Multiple myeloma,Multiple osteochondromas,Multiple paragangliomas associated with polycythemia,MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT,MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE,MULTIPLE SCLEROSIS SUSCEPTIBILITY TO,MULTIPLE SCLEROSIS SUSCEPTIBILITY TO 5,Multiple self-healing squamous epithelioma,MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA SUSCEPTIBILITY TO,MULTIPLE SULFATASE DEFICIENCY,Multiple sulphatase deficiency,Multiple symmetric lipomatosis,Multiple synostoses syndrome,MULTIPLE SYNOSTOSES SYNDROME 1,MULTIPLE SYNOSTOSES SYNDROME 2,MULTIPLE SYNOSTOSES SYNDROME 3,MULTIPLE SYNOSTOSES SYNDROME 4,multiple synostoses syndrome type 3,MULTIPLE SYSTEM ATROPHY 1 SUSCEPTIBILITY TO,Multiple system atrophy cerebellar type,Multiple system atrophy parkinsonian type,MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME,MUNGAN SYNDROME,Muscle filaminopathy,MUSCLE HYPERTROPHY,Muscle Weakness and Isolated Complex I Deficiency,Muscle-eye-brain disease,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE,MUSCULAR DYSTROPHY BECKER TYPE,Muscular dystrophy congenital davignon-chauveau type,MUSCULAR DYSTROPHY CONGENITAL DUE TO INTEGRIN ALPHA-7 DEFICIENCY,MUSCULAR DYSTROPHY CONGENITAL HEARING LOSS AND OVARIAN INSUFFICIENCY SYNDROME,MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED,Muscular dystrophy congenital megaconial type,MUSCULAR DYSTROPHY CONGENITAL MEROSIN-DEFICIENT 1A,MUSCULAR DYSTROPHY CONGENITAL WITH CATARACTS AND INTELLECTUAL DISABILITY,Muscular dystrophy congenital with or without seizures,MUSCULAR DYSTROPHY DUCHENNE TYPE,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 1,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 2,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 3,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 4,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 1,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 10,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 12,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 17,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 18,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 2,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 21,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 23,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 25,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 26,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 27,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 3,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 4,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 5,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 6,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 7,MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 8,Muscular dystrophy limb-girdle type 2S,Muscular dystrophy Selcen type,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type a 10,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type a 12,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES) TYPE A 8,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT) TYPE B 1,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 1,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 11,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 12,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 13,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 14,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 2,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 3,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 4,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 5,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 6,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 7,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A 9,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2,muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT TYPE B 14,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT TYPE B 15,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT TYPE B 2,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT TYPE B 3,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT TYPE B 6,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH INTELLECTUAL DEVELOPMENTAL DISORDER TYPE B3,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH INTELLECTUAL DEVELOPMENTAL DISORDER TYPE B6,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT TYPE B 5,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT TYPE B 4,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 1,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 12,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 14,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 15,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 2,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 3,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 4,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 5,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 7,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 8,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 9,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7,Musculocontractural Ehlers-Danlos syndrome,Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa,Mutilating hereditary sensory neuropathy with spastic paraplegia,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,MUTYH-related attenuated familial adenomatous polyposis,MYASTHENIC SYNDROME CONGENITAL 10,MYASTHENIC SYNDROME CONGENITAL 11 ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY,MYASTHENIC SYNDROME CONGENITAL 12,MYASTHENIC SYNDROME CONGENITAL 13,MYASTHENIC SYNDROME CONGENITAL 14,MYASTHENIC SYNDROME CONGENITAL 16,MYASTHENIC SYNDROME CONGENITAL 17,MYASTHENIC SYNDROME CONGENITAL 18,Myasthenic syndrome congenital 19,MYASTHENIC SYNDROME CONGENITAL 1A SLOW-CHANNEL,MYASTHENIC SYNDROME CONGENITAL 1B FAST-CHANNEL,MYASTHENIC SYNDROME CONGENITAL 20 PRESYNAPTIC,MYASTHENIC SYNDROME CONGENITAL 21 PRESYNAPTIC,MYASTHENIC SYNDROME CONGENITAL 22,MYASTHENIC SYNDROME CONGENITAL 23 PRESYNAPTIC,MYASTHENIC SYNDROME CONGENITAL 24 PRESYNAPTIC,MYASTHENIC SYNDROME CONGENITAL 25 PRESYNAPTIC,MYASTHENIC SYNDROME CONGENITAL 2A SLOW-CHANNEL,MYASTHENIC SYNDROME CONGENITAL 2C ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY,MYASTHENIC SYNDROME CONGENITAL 3A SLOW-CHANNEL,MYASTHENIC SYNDROME CONGENITAL 3B FAST-CHANNEL,Myasthenic syndrome congenital 3c associated with acetylcholine receptor deficiency,MYASTHENIC SYNDROME CONGENITAL 4A SLOW-CHANNEL,MYASTHENIC SYNDROME CONGENITAL 4B FAST-CHANNEL,MYASTHENIC SYNDROME CONGENITAL 4C ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY,MYASTHENIC SYNDROME CONGENITAL 5,MYASTHENIC SYNDROME CONGENITAL 6 PRESYNAPTIC,MYASTHENIC SYNDROME CONGENITAL 7A PRESYNAPTIC AND DISTAL MOTOR NEUROPATHY AUTOSOMAL DOMINANT,MYASTHENIC SYNDROME CONGENITAL 7B PRESYNAPTIC AUTOSOMAL RECESSIVE,MYASTHENIC SYNDROME CONGENITAL 8,MYASTHENIC SYNDROME CONGENITAL 9 ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY,MYASTHENIC SYNDROME CONGENITAL WITH TUBULAR AGGREGATES 2,MYBPC1-related arthrogryposis and myopathy,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,MYBPC3-related HCM,MYCBP2-related developmental delay with corpus callosum defects,MYCOBACTERIUM TUBERCULOSIS SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS PROTECTION AGAINST INCLUDED,MYELODYSPLASTIC SYNDROME,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,MYELOFIBROSIS MYELOFIBROSIS WITH MYELOID METAPLASIA INCLUDED,myeloid neoplasm,Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement,Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement,Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement,MYELOMA MULTIPLE AMYLOIDOSIS SYSTEMIC INCLUDED,MYELOPEROXIDASE DEFICIENCY,Myeloproliferative disorder,MYELOPROLIFERATIVE DISORDER CHRONIC WITH EOSINOPHILIA,MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS FAMILIAL (MULTIPLE TYPES) SUSCEPTIBILITY TO,MYH10-related Multiple congenital anomalies,MYH7-related DCM,MYH7-related HCM,MYH9-related disease,Myhre syndrome,MYL2-related HCM,MYL3-related HCM,MYLPF arthrogryposis biallelic,MYLPF arthrogryposis monoallelic,MYO5B-related progressive familial intrahepatic cholestasis,MYO6-related nonsyndromic genetic hearing loss,MYOCARDIAL INFARCTION SUSCEPTIBILITY TO MYOCARDIAL INFARCTION SUSCEPTIBILITY TO 1 INCLUDED,MYOCLONIC EPILEPSY FAMILIAL INFANTILE,Myoclonic epilepsy infantile familial,MYOCLONIC EPILEPSY OF LAFORA,MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG,Myoclonic-astatic epilepsy,MYOCLONIC-ATONIC EPILEPSY,MYOCLONUS FAMILIAL 1,MYOCLONUS FAMILIAL 2,MYOCLONUS INTRACTABLE NEONATAL,MYOCLONUS-DYSTONIA SYNDROME,MYOECTODERMAL GONADAL DYSGENESIS SYNDROME,MYOFIBRILLAR MYOPATHY 10,MYOFIBRILLAR MYOPATHY 11,Myofibrillar myopathy 2,Myofibrillar myopathy BAG3-related,MYOFIBROMATOSIS INFANTILE 1,MYOFIBROMATOSIS INFANTILE 2,Myoglobinuria acute recurrent autosomal recessive,Myopathic Ehlers-Danlos syndrome,Myopathic intestinal pseudoobstruction,Myopathy and diabetes mellitus,MYOPATHY AUTOSOMAL RECESSIVE WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES,MYOPATHY CENTRONUCLEAR 1,MYOPATHY CENTRONUCLEAR 2,MYOPATHY CENTRONUCLEAR 4,Myopathy centronuclear 5,MYOPATHY CENTRONUCLEAR 6 WITH FIBER-TYPE DISPROPORTION,MYOPATHY CENTRONUCLEAR X-LINKED,MYOPATHY CONGENITAL WITH FAST-TWITCH (TYPE II) FIBER ATROPHY,MYOPATHY DISTAL 1,MYOPATHY DISTAL 4,MYOPATHY DISTAL 5,MYOPATHY DISTAL 6 ADULT-ONSET AUTOSOMAL DOMINANT,Myopathy distal 7 adult-onset X-linked,MYOPATHY DISTAL TATEYAMA TYPE,MYOPATHY DISTAL WITH ANTERIOR TIBIAL ONSET,MYOPATHY DISTAL WITH RIMMED VACUOLES,MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY,Myopathy early-onset areflexia respiratory distress and dysphagia,MYOPATHY EPILEPSY AND PROGRESSIVE CEREBRAL ATROPHY,Myopathy isolated mitochondrial autosomal dominant,MYOPATHY LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA 1,MYOPATHY LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA 2,MYOPATHY MITOCHONDRIAL AND ATAXIA,MYOPATHY MITOCHONDRIAL PROGRESSIVE WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY,MYOPATHY MITOCHONDRIAL PROGRESSIVE WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY,MYOPATHY MYOFIBRILLAR 1,MYOPATHY MYOFIBRILLAR 12 INFANTILE-ONSET WITH CARDIOMYOPATHY,Myopathy myofibrillar 2,MYOPATHY MYOFIBRILLAR 3,MYOPATHY MYOFIBRILLAR 4,MYOPATHY MYOFIBRILLAR 5,Myopathy myofibrillar 6,MYOPATHY MYOFIBRILLAR 7,MYOPATHY MYOFIBRILLAR 8,MYOPATHY MYOFIBRILLAR 9 WITH EARLY RESPIRATORY FAILURE,Myopathy myofibrillar fatal infantile hypertonic alpha-B crystallin-related,MYOPATHY MYOFIBRILLAR TYPE 4,MYOPATHY MYOSIN STORAGE AUTOSOMAL DOMINANT,MYOPATHY MYOSIN STORAGE AUTOSOMAL RECESSIVE,Myopathy sarcoplasmic body,MYOPATHY SCAPULOHUMEROPERONEAL,MYOPATHY TUBULAR AGGREGATE 1,Myopathy tubular aggregate 2,Myopathy vacuolar with casq1 aggregates,Myopathy with extrapyramidal signs,MYOPATHY WITH LACTIC ACIDOSIS HEREDITARY,Myopathy with myalgia increased serum creatine kinase and with or without episodic rhabdomyolysis,MYOPATHY X-LINKED WITH EXCESSIVE AUTOPHAGY,MYOPATHY X-LINKED WITH POSTURAL MUSCLE ATROPHY,Myopia,MYOPIA 21 AUTOSOMAL DOMINANT,MYOPIA 22 AUTOSOMAL DOMINANT,Myopia 23 autosomal recessive,MYOPIA 24 AUTOSOMAL DOMINANT,MYOPIA 25 AUTOSOMAL DOMINANT,MYOPIA 26 X-LINKED FEMALE-LIMITED,MYOPIA 27 AUTOSOMAL DOMINANT,MYOPIA 28 AUTOSOMAL RECESSIVE,Myopia 6,MYOPIA HIGH WITH CATARACT AND VITREORETINAL DEGENERATION,Myosclerosis,MYOSCLEROSIS AUTOSOMAL RECESSIVE,MYOTONIA CONGENITA AUTOSOMAL DOMINANT,MYOTONIA CONGENITA AUTOSOMAL RECESSIVE,MYOTONIA FLUCTUANS,MYOTONIA PERMANENS,MYOTONIA POTASSIUM-AGGRAVATED,MYOTONIC DYSTROPHY 1,MYOTONIC DYSTROPHY 2,Myotonic dystrophy type 2,MYOTUBULAR MYOPATHY X-LINKED,MYSM1-related congenital bone marrow failure,MYT1L syndrome,MYT1L-related developmental delay-intellectual disability-obesity syndrome,Myxofibrosarcoma,Myxoid/round cell liposarcoma,MYXOMA INTRACARDIAC,N-ACETYLASPARTATE DEFICIENCY,N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY,NAA20-associated developmental delay and microcephaly,NAD deficiency disorder,NADPH DEHYDROGENASE QUINONE 1,NADPHX dehydratase deficiency,NADPHX epimerase deficiency,NADSYN1-related Congenital NAD Deficiency Disorder,NAE1-associated neurodevelopmental disorder with intellectual disability ischiopubic hypoplasia stress-mediated lymphopenia and neurodegeneration,Naegeli syndrome,Naegeli-Franceschetti-Jadassohn syndrome,Nager syndrome,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10,NAIL DISORDER NONSYNDROMIC CONGENITAL 1,NAIL DISORDER NONSYNDROMIC CONGENITAL 3,NAIL DISORDER NONSYNDROMIC CONGENITAL 4,NAIL DISORDER NONSYNDROMIC CONGENITAL 8,NAIL-PATELLA SYNDROME,Nail-patella-like renal disease,Nakajo syndrome,NANCE-HORAN SYNDROME,Nanophthalmos,NANOPHTHALMOS 2,Nanophthalmos 4,NAPB-related Neurodevelopmental Disorder,NARCOLEPSY 1,NARCOLEPSY 7,Narcolepsy type 1,Narcolepsy type 2,NARP syndrome,NARS1 Neurodevelopmental Disorder biallelic,NARS1 Neurodevelopmental Disorder monoallelic,NARS2-associated oxidative phosphorylation deficiency,NASOPHARYNGEAL CARCINOMA,NASOPHARYNGEAL CARCINOMA SUSCEPTIBILITY TO 3,Nasu-Hakola disease,NATIVE AMERICAN MYOPATHY,Navajo neurohepatopathy,NAXOS DISEASE,NBEA Neurodevelopment disorder with seizures,NCDN-associated neurodevelopmental disorder with seizures biallelic,NCDN-associated neurodevelopmental disorder with seizures monoallelic,NCKAP1-related Neurodevelopmental Disorder,NCOR1-related developmental disorder,ND,NDE1-related microhydranencephaly,NDNF-related Congenital Hypogonadotrophic Hypogonadism,NDUFA12-associated mtochondrial complex I deficiency,NDUFA8-related developmental disorder,NDUFAF8-related Leigh Syndrome,NDUFB3-associated mitochondrial complex I deficiency,NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy,NEK9-related lethal skeletal dysplasia,Nemaline myopathy 10,NEMALINE MYOPATHY 11 AUTOSOMAL RECESSIVE,Nemaline myopathy 2,NEMALINE MYOPATHY 3,NEMALINE MYOPATHY 4,NEMALINE MYOPATHY 5,Nemaline myopathy 6,NEMALINE MYOPATHY 7,Nemaline myopathy 8,Nemaline myopathy 8 autosomal recessive,NEMALINE MYOPATHY 9,Nemaline/Cap myopathy,Neonatal acute respiratory distress due to SP-B deficiency,NEONATAL ADRENOLEUKODYSTROPHY,Neonatal alloimmune neutropenia,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,Neonatal epilepsy spectrum,Neonatal epileptic encephalopathy due to glutaminase deficiency,Neonatal glycine encephalopathy,Neonatal ichthyosis-sclerosing cholangitis syndrome,Neonatal inflammatory skin and bowel disease,Neonatal intrahepatic cholestasis due to citrin deficiency,Neonatal Marfan syndrome,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,Neonatal severe primary hyperparathyroidism,Neonatal-onset epilepsy defective mitochondrial energy metabolism and glycine elevation,Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18,Neonatal/Infancy-Onset Diabetes Congenital Sensorineural Deafness and Congenital Cataracts Syndrome,Neoplasm,neoplasm of mature B-cells,Nephroblastoma,Nephrogenic diabetes insipidus,NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS,NEPHROLITHIASIS CALCIUM OXALATE 1,NEPHROLITHIASIS URIC ACID SUSCEPTIBILITY TO,NEPHROLITHIASIS X-LINKED RECESSIVE WITH RENAL FAILURE,NEPHROLITHIASIS/OSTEOPOROSIS HYPOPHOSPHATEMIC 1,NEPHROLITHIASIS/OSTEOPOROSIS HYPOPHOSPHATEMIC 2,NEPHRONOPHTHISIS 1,NEPHRONOPHTHISIS 11,NEPHRONOPHTHISIS 12,NEPHRONOPHTHISIS 13,Nephronophthisis 14,NEPHRONOPHTHISIS 15,Nephronophthisis 16,NEPHRONOPHTHISIS 18,Nephronophthisis 19,NEPHRONOPHTHISIS 2,NEPHRONOPHTHISIS 20,NEPHRONOPHTHISIS 3,NEPHRONOPHTHISIS 4,Nephronophthisis 7,NEPHRONOPHTHISIS 9,Nephronophthisis Related Ciliopathy,NEPHRONOPHTHISIS TYPE 1,NEPHRONOPHTHISIS TYPE 11,NEPHRONOPHTHISIS TYPE 3,NEPHRONOPHTHISIS TYPE 4,NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1,NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2,NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1,nephropathy with pretibial epidermolysis bullosa and deafness,NEPHROTIC SYNDROME TYPE 1,Nephrotic syndrome type 10,Nephrotic syndrome type 11,NEPHROTIC SYNDROME TYPE 12,NEPHROTIC SYNDROME TYPE 13,NEPHROTIC SYNDROME TYPE 15,NEPHROTIC SYNDROME TYPE 16,NEPHROTIC SYNDROME TYPE 17,NEPHROTIC SYNDROME TYPE 18,NEPHROTIC SYNDROME TYPE 19,NEPHROTIC SYNDROME TYPE 2,NEPHROTIC SYNDROME TYPE 20,NEPHROTIC SYNDROME TYPE 21,NEPHROTIC SYNDROME TYPE 22,NEPHROTIC SYNDROME TYPE 23,NEPHROTIC SYNDROME TYPE 24,NEPHROTIC SYNDROME TYPE 26,NEPHROTIC SYNDROME TYPE 3,NEPHROTIC SYNDROME TYPE 4,Nephrotic syndrome type 5 with or without ocular abnormalities,NEPHROTIC SYNDROME TYPE 6,NEPHROTIC SYNDROME TYPE 7,NEPHROTIC SYNDROME TYPE 8,Nephrotic syndrome type 9,Nephrotic syndrome with primary microcephaly,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,NESCAV SYNDROME,Nestor-Guillermo progeria syndrome,NETHERTON SYNDROME,NEU-LAXOVA,Neu-Laxova syndrome,NEU-LAXOVA SYNDROME 1,Neu-laxova syndrome 2,Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,Neu-laxova syndrome due to phosphoserine aminotransferase deficiency,Neural tube defect,NEURAL TUBE DEFECTS,Neural tube defects folate-sensitive,Neural tube defects susceptibility to,Neuralgic amyotrophy,NEURAMINIDASE DEFICIENCY,Neuro immuno skeletal Dysplasia Syndrome,Neuroblastic Tumor,Neuroblastoma,Neuroblastoma susceptibility to,NEUROBLASTOMA SUSCEPTIBILITY TO 1,NEUROBLASTOMA SUSCEPTIBILITY TO 2,NEUROBLASTOMA SUSCEPTIBILITY TO 3,NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE,NEUROCARDIOFACIODIGITAL SYNDROME,NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT,NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCED WITH VARIABLE ATAXIA AND SEIZURES,NEURODEGENERATION CHILDHOOD-ONSET WITH ATAXIA TREMOR OPTIC ATROPHY AND COGNITIVE DECLINE,NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHY,NEURODEGENERATION CHILDHOOD-ONSET WITH CEREBELLAR ATROPHY,NEURODEGENERATION CHILDHOOD-ONSET WITH HYPOTONIA RESPIRATORY INSUFFICIENCY AND BRAIN IMAGING ABNORMALITIES,NEURODEGENERATION CHILDHOOD-ONSET WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION,NEURODEGENERATION CHILDHOOD-ONSET WITH PROGRESSIVE MICROCEPHALY,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY,NEURODEGENERATION EARLY-ONSET WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA,Neurodegeneration in Early Childhood,NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY,NEURODEGENERATION WITH ATAXIA DYSTONIA AND GAZE PALSY CHILDHOOD-ONSET,Neurodegeneration with brain iron accumulation,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4,Neurodegeneration with brain iron accumulation 5,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8,Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy,Neurodegeneration with developmental delay early respiratory failure myoclonic seizures and brain abnormalities,Neurodegenerative disorder exacerbated by febrile illnesses,Neurodegenerative syndrome due to cerebral folate transport deficiency,Neurodevelopment disorder,Neurodevelopmental Cardiac and Renal Syndrome,Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism,Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome,Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,Neurodevelopmental Disease Associated with Mild Dysmorphism,Neurodevelopmental disorder,NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY,Neurodevelopmental Disorder in Females,NEURODEVELOPMENTAL DISORDER MITOCHONDRIAL WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS WITH OR WITHOUT SEIZURES,NEURODEVELOPMENTAL DISORDER NONPROGRESSIVE WITH SPASTICITY AND TRANSIENT OPISTHOTONUS,Neurodevelopmental Disorder of Hypusination,NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES,NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH ATAXIA HYPOTONIA AND MICROCEPHALY,NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT ABSENT SPEECH AND DECREASED CORTICAL WHITE MATTER,NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES ABSENT SPEECH AND HYPOTONIA,NEURODEVELOPMENTAL DISORDER WITH BRAIN ABNORMALITIES POOR GROWTH AND DYSMORPHIC FACIES,NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES,NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES SEIZURES AND SCOLIOSIS,NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY SPASTICITY AND BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH CATARACTS POOR GROWTH AND DYSMORPHIC FACIES,NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION,Neurodevelopmental disorder with central hypotonia and dysmorphic facies,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY,NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM,NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES,Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES,Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia,Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES IMPAIRED SPEECH AND HYPOTONIA,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES SLEEP DISTURBANCE AND BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES SPASTICITY AND BRAIN ABNORMALITIES,Neurodevelopmental disorder with dystonia and seizures,NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY,NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS,NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM,NEURODEVELOPMENTAL DISORDER WITH EPILEPSY SPASTICITY AND BRAIN ATROPHY,NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA,Neurodevelopmental disorder with facial dysmorphism absent language and pseudo-Pelger-Huet anomaly,NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES THIN CORPUS CALLOSUM AND FOOT DEFORMITY,Neurodevelopmental disorder with gait disturbance dysmorphic facies and behavioral abnormalities X-linked,NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION DYSMORPHIC FACIES AND CORPUS CALLOSUM ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY,NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS SEIZURES AND BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY WITH OR WITHOUT SEIZURES,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA CRANIOFACIAL ABNORMALITIES AND SEIZURES,Neurodevelopmental disorder with hypotonia dysmorphic facies and skeletal anomalies with or without seizures,Neurodevelopmental disorder with hypotonia dysmorphic facies and skin abnormalities,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA FACIAL DYSMORPHISM AND BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA IMPAIRED LANGUAGE AND DYSMORPHIC FEATURES,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA IMPAIRED SPEECH AND BEHAVIORAL ABNORMALITIES,Neurodevelopmental disorder with hypotonia language delay and skeletal defects with or without seizures,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA MICROCEPHALY AND SEIZURES,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA NEONATAL RESPIRATORY INSUFFICIENCY AND THERMODYSREGULATION,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA NEUROPATHY AND DEAFNESS,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA SEIZURES AND ABSENT LANGUAGE,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA STEREOTYPIC HAND MOVEMENTS AND IMPAIRED LANGUAGE,NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT HYPOTONIA AND ATAXIA,NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES,NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS,NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS,NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR PYRAMIDAL SIGNS DYSPRAXIA AND OCULAR ANOMALIES,NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE SEIZURES AND SPASTICITY,NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS,Neurodevelopmental disorder with language delay and behavioral abnormalities with or without seizures,Neurodevelopmental disorder with language delay and seizures,NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE,Neurodevelopmental disorder with microcephaly and speech delay with or without brain abnormalities,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY ARTHROGRYPOSIS AND STRUCTURAL BRAIN ANOMALIES,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY ATAXIA AND SEIZURES,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY CATARACTS AND RENAL ABNORMALITIES,Neurodevelopmental disorder with microcephaly cerebral atrophy and visual impairment,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY CORTICAL MALFORMATIONS AND SPASTICITY,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY EPILEPSY AND BRAIN ATROPHY,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY EPILEPSY AND HYPOMYELINATION,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY HYPOTONIA AND ABSENT LANGUAGE,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY HYPOTONIA AND VARIABLE BRAIN ANOMALIES,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY HYPOTONIA NYSTAGMUS AND SEIZURES,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY IMPAIRED LANGUAGE AND GAIT ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY IMPAIRED LANGUAGE EPILEPSY AND GAIT ABNORMALITIES,Neurodevelopmental disorder with microcephaly movement abnormalities and seizures,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY SEIZURES AND BRAIN ATROPHY,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY SEIZURES AND CORTICAL ATROPHY,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY SEIZURES AND NEONATAL CHOLESTASIS,Neurodevelopmental disorder with microcephaly short stature and speech delay,Neurodevelopmental disorder with midbrain and hindbrain malformations,NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES ABNORMAL GAIT AND AUTISTIC FEATURES,NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY HYPOTONIA AND FEEDING DIFFICULTIES,NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN EYE OR HEART,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY,Neurodevelopmental disorder with or without hyperkinetic movements and seizures autosomal dominant,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES AUTOSOMAL RECESSIVE,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA SEIZURES AND CEREBELLAR ATROPHY,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES,Neurodevelopmental disorder with or without variable movement or behavioral abnormalities,Neurodevelopmental disorder with poor growth and behavioral abnormalities,NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES,Neurodevelopmental disorder with poor growth large ears and dysmorphic facies,NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH SPASTIC TETRAPLEGIA AND HEARING LOSS,NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS,NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY SPASTICITY AND BRAIN ANOMALIES,NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY SPASTICITY AND BRAIN IMAGING ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH REGRESSION ABNORMAL MOVEMENTS LOSS OF SPEECH AND SEIZURES,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT,NEURODEVELOPMENTAL DISORDER WITH SEIZURES HYPOTONIA AND BRAIN IMAGING ABNORMALITIES,Neurodevelopmental disorder with seizures microcephaly and brain abnormalities,Neurodevelopmental disorder with seizures spasticity and complete or partial agenesis of the corpus callosum,Neurodevelopmental disorder with severe motor impairment absent language cerebral hypomyelination and brain atrophy,Neurodevelopmental disorder with short stature prominent forehead and feeding difficulties,NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS,NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY,NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES,NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH,NEURODEVELOPMENTAL DISORDER WITH SPASTICITY CATARACTS AND CEREBELLAR HYPOPLASIA,NEURODEVELOPMENTAL DISORDER WITH SPASTICITY HYPOMYELINATING LEUKODYSTROPHY AND BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH SPASTICITY SEIZURES AND BRAIN ABNORMALITIES,NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES,NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES,NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES,NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES,NEURODEVELOPMENTAL DISORDER WITH VARIABLE MOTOR AND LANGUAGE IMPAIRMENT,NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,NEURODEVELOPMENTAL JAW EYE AND DIGITAL SYNDROME,NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES,Neuroectodermal melanolysosomal disease,Neuroendocrine tumor of stomach,NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS,Neuroferritinopathy,NEUROFIBROMATOSIS FAMILIAL SPINAL,NEUROFIBROMATOSIS TYPE 1,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,Neurofibromatosis type 2,NEUROFIBROMATOSIS TYPE I,NEUROFIBROMATOSIS TYPE II,Neurofibromatosis-Noonan syndrome,Neurogenic arthrogryposis multiplex congenita,Neurogenic scapuloperoneal syndrome Kaeser type,NEUROLOGIC ENDOCRINE AND PANCREATIC DISEASE MULTISYSTEM INFANTILE-ONSET,NEUROLOGIC ENDOCRINE AND PANCREATIC DISEASE MULTISYSTEM INFANTILE-ONSET 1,Neurologic endocrine and pancreatic disease multisystem infantile-onset 2,Neurological conditions associated with aminoacylase 1 deficiency,Neurological Phenotypes,Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy,Neurometabolic disorder due to FARS2 deficiency,NEUROMUSCULAR OCULOAUDITORY SYNDROME,Neuromyotonia and axonal neuropathy autosomal recessive,Neuronal Ceroid Lipofuscinosis,Neuronal ceroid lipofuscinosis 8 northern epilepsy variant,NEURONAL CEROID LIPOFUSCINOSIS TYPE 2,NEURONAL CEROID LIPOFUSCINOSIS TYPE 3,NEURONAL CEROID LIPOFUSCINOSIS TYPE 8,Neuronal intestinal pseudoobstruction,Neuronal intranuclear inclusion disease,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IIA,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IIB,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IIC,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IID,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IX,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VA,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VB,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VC,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VIIA,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VIIB,NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VIII,Neuronopathy distal hereditary motor type X,Neuroocular syndrome,NEUROOCULOCARDIOGENITOURINARY SYNDROME,Neurooculorenal syndrome,NEUROPATHY ATAXIA AND RETINITIS PIGMENTOSA,Neuropathy Ataxia Retinitis Pigmentosa syndrome,Neuropathy congenital hypomyelinating 1,NEUROPATHY CONGENITAL HYPOMYELINATING 1 AUTOSOMAL RECESSIVE,NEUROPATHY CONGENITAL HYPOMYELINATING 2,NEUROPATHY CONGENITAL HYPOMYELINATING 3,NEUROPATHY HEREDITARY MOTOR AND SENSORY RUSSE TYPE,NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIA WITH OPTIC ATROPHY,NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIB,NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIB WITH OPTIC ATROPHY,NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIC WITH OPTIC ATROPHY,NEUROPATHY HEREDITARY MOTOR WITH MYOPATHIC FEATURES,NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IA,Neuropathy hereditary sensory and autonomic type IC,Neuropathy hereditary sensory and autonomic type II,NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IIA,NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IIB,NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE III,NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IX WITH DEVELOPMENTAL DELAY,NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE V,NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE VI,NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE VII,NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE VIII,Neuropathy hereditary sensory type ID,NEUROPATHY HEREDITARY SENSORY TYPE IE,NEUROPATHY HEREDITARY SENSORY TYPE IF,Neuropathy hereditary sensory type IIC,NEUROPATHY HEREDITARY SENSORY WITH SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE,NEUROPATHY HEREDITARY WITH LIABILITY TO PRESSURE PALSIES,Neuropathy with hearing impairment,Neutral lipid storage disease with ichthyosis,NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY,Neutral lipid storage myopathy,NEUTROPENIA SEVERE CONGENITAL 1 AUTOSOMAL DOMINANT,NEUTROPENIA SEVERE CONGENITAL 3 AUTOSOMAL RECESSIVE,NEUTROPENIA SEVERE CONGENITAL 4 AUTOSOMAL RECESSIVE,NEUTROPENIA SEVERE CONGENITAL 5 AUTOSOMAL RECESSIVE,NEUTROPENIA SEVERE CONGENITAL 6 AUTOSOMAL RECESSIVE,Neutropenia severe congenital 7 autosomal recessive,NEUTROPENIA SEVERE CONGENITAL 8 AUTOSOMAL DOMINANT,NEUTROPENIA SEVERE CONGENITAL 9 AUTOSOMAL DOMINANT,NEUTROPENIA SEVERE CONGENITAL X-LINKED,NEUTROPHIL IMMUNODEFICIENCY SYNDROME,NEUTROPHILIA HEREDITARY,NEUTROPHILIC DERMATOSIS ACUTE FEBRILE,NEVUS COMEDONICUS,Nevus comedonicus syndrome,NEVUS EPIDERMAL,Nevus of Ota,NEWFOUNDLAND ROD-CONE DYSTROPHY,NEXMIF-related Intellectual disability and epilepsy XLD,NEXMIF-related Intellectual disability and epilepsy XLR,NFE2L2-related leukoencephalopathy immune deficiency and hypohomocysteinaemia,NHLRC2-related fibrosis neurodegeneration and cerebral angiomatosis,NICOLAIDES-BARAITSER SYNDROME,NIEMANN-PICK DISEASE TYPE A,Niemann-Pick disease type B,Niemann-Pick disease type C adult neurologic onset,Niemann-Pick disease type C juvenile neurologic onset,Niemann-Pick disease type C late infantile neurologic onset,Niemann-Pick disease type C severe early infantile neurologic onset,Niemann-Pick disease type C severe perinatal form,NIEMANN-PICK DISEASE TYPE C1,NIEMANN-PICK DISEASE TYPE C2,NIGHT BLINDNESS CONGENITAL STATIONARY AUTOSOMAL DOMINANT 1,NIGHT BLINDNESS CONGENITAL STATIONARY AUTOSOMAL DOMINANT 2,NIGHT BLINDNESS CONGENITAL STATIONARY AUTOSOMAL DOMINANT 3,Night blindness congenital stationary complete 1A X-linked,Night blindness congenital stationary complete 1B autosomal recessive,Night blindness congenital stationary complete 1C autosomal recessive,Night blindness congenital stationary complete 1D autosomal recessive,Night blindness congenital stationary complete 1E autosomal recessive,Night blindness congenital stationary complete 1F autosomal recessive,NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1A,NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1B,NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1C,Night blindness congenital stationary type 1D,NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1E,NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1F,NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1G,NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1H,NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 2A,NIGHT BLINDNESS CONGENITAL STATIONARY TYPE1I,Nijmegan breakage syndrome,NIJMEGEN BREAKAGE SYNDROME,NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER,NIK deficiency,NITRIC OXIDE SYNTHASE 3,NIVELON-NIVELON-MABILLE SYNDROME,NIZON-ISIDOR SYNDROME,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,NLRC4-related familial cold autoinflammatory syndrome,NLRP12-associated hereditary periodic fever syndrome,NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1,Nodular fasciitis,Nodular urticaria pigmentosa,NOG-related-symphalangism spectrum disorder,NON RARE IN EUROPE,NON RARE IN EUROPE: Age-related macular degeneration,NON RARE IN EUROPE: Aldosterone-producing adenoma,NON RARE IN EUROPE: Alzheimer disease,NON RARE IN EUROPE: Ankylosing spondylitis,NON RARE IN EUROPE: Asperger syndrome,NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris,NON RARE IN EUROPE: Benign familial hematuria,NON RARE IN EUROPE: Berger disease,NON RARE IN EUROPE: Brachydactyly type D,NON RARE IN EUROPE: Celiac disease,NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency,NON RARE IN EUROPE: Crohn disease,NON RARE IN EUROPE: Dementia with Lewy body,NON RARE IN EUROPE: Diabetes mellitus type 1,NON RARE IN EUROPE: Essential hypertension,NON RARE IN EUROPE: Exfoliation syndrome,NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia,NON RARE IN EUROPE: Familial hypobetalipoproteinemia,NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy,NON RARE IN EUROPE: FG syndrome phenotypic spectrum,NON RARE IN EUROPE: Gilbert syndrome,NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency,NON RARE IN EUROPE: Hemochromatosis type 1,NON RARE IN EUROPE: Hereditary essential tremor,NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia,NON RARE IN EUROPE: Hidradenitis suppurativa,NON RARE IN EUROPE: Hyperlipoproteinemia type 4,NON RARE IN EUROPE: Idiopathic infantile nystagmus,NON RARE IN EUROPE: Immunoglobulin A deficiency,NON RARE IN EUROPE: Infantile capillary hemangioma,NON RARE IN EUROPE: Isolated keratoconus,NON RARE IN EUROPE: Lactase non-persistence in adulthood,NON RARE IN EUROPE: Metabolic syndrome,NON RARE IN EUROPE: Multiple sclerosis,NON RARE IN EUROPE: Non rare obesity,NON RARE IN EUROPE: Non rare thrombophilia,NON RARE IN EUROPE: Non-alcoholic fatty liver disease,NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,NON RARE IN EUROPE: Obesity due to MC3R deficiency,NON RARE IN EUROPE: Paget disease of bone,NON RARE IN EUROPE: Parkinson disease,NON RARE IN EUROPE: Partial color blindness deutan type,NON RARE IN EUROPE: Partial color blindness protan type,NON RARE IN EUROPE: Primary adult open-angle glaucoma,NON RARE IN EUROPE: Primary bile acid malabsorption,NON RARE IN EUROPE: Primary ovarian failure,NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency,NON RARE IN EUROPE: Psoriatic arthritis,NON RARE IN EUROPE: Recurrent acute pancreatitis,NON RARE IN EUROPE: Rheumatoid arthritis,NON RARE IN EUROPE: Tourette syndrome,NON RARE IN EUROPE: Ulcerative colitis,NON RARE IN EUROPE: Ventricular septal defect,NON RARE IN EUROPE: Wolff-Parkinson-White syndrome,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,Non-acquired panhypopituitarism,Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,Non-degenerative Pontocerebellar Hypoplasia,Non-epidermolytic palmoplantar keratoderma,Non-hereditary retinoblastoma,Non-immune hydrops fetalis,Non-Neoplastic Bile Duct Disorder,Non-phenylketonuria hyperphenylalaninemia,Non-photosensitive trichothiodystrophy,Non-progressive cerebellar ataxia with intellectual disability,Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,Non-seminomatous germ cell tumor of testis,non-small cell lung carcinoma,Non-specific early-onset epileptic encephalopathy,Non-specific syndromic intellectual disability,Non-syndromic bicoronal craniosynostosis,Non-syndromic craniosynostosis,Non-syndromic hereditary optic neuropathy,Non-syndromic male infertility due to sperm motility disorder,Non-syndromic metopic craniosynostosis,Non-syndromic non-specific multisutural craniosynostosis,Non-syndromic posterior hypospadias,Non-syndromic retinal degeneration,Non-syndromic retinitis pigmenta,Non-syndromic retinitis pigmentosa,Non-syndromic sagittal craniosynostosis,NONAKA MYOPATHY,NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY SUSCEPTIBILITY TO,Nonpecific severe ID,Nonsmall cell lung cancer susceptibility to,Nonspecific severe ID,Nonspherocytic hemolytic anemia due to hexokinase deficiency,Nonsyndromic autosomal-Recessive intellectual disability,Nonsyndromic deafness DFNB48,NONSYNDROMIC INTELLECTUAL DEVELOPMENTAL DISORDER,Noonan Syndrome,NOONAN SYNDROME 1,NOONAN SYNDROME 10,NOONAN SYNDROME 11,NOONAN SYNDROME 12,NOONAN SYNDROME 13,Noonan syndrome 14,Noonan syndrome 2,NOONAN SYNDROME 3,NOONAN SYNDROME 4,NOONAN SYNDROME 5,NOONAN SYNDROME 6,NOONAN SYNDROME 7,Noonan syndrome 8,NOONAN SYNDROME 9,NOONAN SYNDROME TYPE 3,Noonan syndrome type 6,NOONAN SYNDROME TYPE 7,Noonan syndrome with multiple lentigines,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR,NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1,NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2,Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia,Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia,Noonan-like syndrome with loose anagen hair,Normal Breast-Like Subtype of Breast Carcinoma,Normosmic congenital hypogonadotropic hypogonadism,NORRIE DISEASE,NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS,North Carolina macular dystrophy,NOT IN OMIM,NOTCH2 N-TERMINAL-LIKE R,NPHP3-related Meckel-like syndrome,NR4A2-related developmental disorder monoallelic,NRCAM neurodevelopmental disorder with dysmorphic features hypotonia and spasticity,NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,NSD2-related developmental disorder monoallelic,NSRP1-associated developmental delay epilepsy and microcephaly,NTHL1-related attenuated familial adenomatous polyposis,Nuclear Envelopathy with Early Progeroid Appearance,NUDT2-related Developmental Disorder,Null pituitary adenoma,Null syndrome,NUP54-related early-onset dystonia with striatal lesions,NUT midline carcinoma,NYSTAGMUS 1 CONGENITAL X-LINKED,NYSTAGMUS 6 CONGENITAL X-LINKED,NYSTAGMUS 8 CONGENITAL AUTOSOMAL RECESSIVE,O'DONNELL-LURIA-RODAN SYNDROME,OAVS/Goldenhar syndrome,Obesity due to CEP19 deficiency,Obesity due to congenital leptin deficiency,Obesity due to leptin receptor gene deficiency,Obesity due to melanocortin 4 receptor deficiency,Obesity due to pro-opiomelanocortin deficiency,Obesity due to prohormone convertase I deficiency,Obesity due to SIM1 deficiency,OBESITY EARLY-ONSET WITH ADRENAL INSUFFICIENCY AND RED HAIR,OBESITY HYPERPHAGIA AND DEVELOPMENTAL DELAY,OBESITY LEANNESS INCLUDED,Obsessive-compulsive disorder,occipital cortical malformations,Occipital encephalocele,Occipital horn syndrome,Occipital pachygyria and polymicrogyria,OCCULT MACULAR DYSTROPHY,Ochoa syndrome,OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria,Ocular albinism,Ocular albinism with late-onset sensorineural deafness,Ocular anomalies-axonal neuropathy-developmental delay syndrome,Ocular coloboma,Ocular coloboma microphthalmia and cataract,Ocular cystinosis,Ocular Melanoma,Oculoauricular syndrome,Oculoauricular syndrome Schorderet type,Oculocerebrofacial syndrome Kaufman type,Oculocerebrorenal syndrome of Lowe,Oculocutaneous albinism,Oculocutaneous Albinism Type 1,Oculocutaneous albinism type 1A,Oculocutaneous albinism type 1B,Oculocutaneous albinism type 2,Oculocutaneous albinism type 3,Oculocutaneous albinism type 4,Oculocutaneous albinism type 6,Oculocutaneous albinism type 7,Oculocutaneous albinism type 8,OCULOCUTANEOUS ALBINISM TYPE VIII,OCULODENTODIGITAL DYSPLASIA,OCULODENTODIGITAL DYSPLASIA AUTOSOMAL RECESSIVE,Oculoectodermal syndrome,Oculofaciocardiodental syndrome,OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME,Oculogastrointestinal-neurodevelopmental syndrome,OCULOMOTOR-ABDUCENS SYNKINESIS,Oculootodental syndrome,OCULOPHARYNGEAL MUSCULAR DYSTROPHY,Oculopharyngeal myopathy with leukoencephalopathy 1,Oculopharyngodistal myopathy,OCULOPHARYNGODISTAL MYOPATHY 1,OCULOPHARYNGODISTAL MYOPATHY 2,OCULOPHARYNGODISTAL MYOPATHY 3,OCULOPHARYNGODISTAL MYOPATHY 4,OCULOSKELETODENTAL SYNDROME,Oculotrichoanal syndrome,ODC1-related developmental disorder monoallelic,Odonto-onycho-dermal dysplasia,ODONTOCHONDRODYSPLASIA,ODONTOCHONDRODYSPLASIA 1,ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES,ODONTOHYPOPHOSPHATASIA,Odontoleukodystrophy,ODONTOONYCHODERMAL DYSPLASIA,OGDEN SYNDROME,OGDH-related neurodevelopmental disorder,OGDHL-related neurodevelopmental disorder with seizures hearing loss and gait ataxia,OGT-related developmental disorder hemizygous,OGT-related developmental disorder X-linked dominant,Oguchi disease,OGUCHI DISEASE 1,OGUCHI DISEASE 2,Oguchi disease-1,Oguchi disease-2,OHDO SYNDROME SBBYS VARIANT,OHDO SYNDROME X-LINKED,Okihiro syndrome due to 20q13 microdeletion,Okihiro syndrome due to a point mutation,OKT4 EPITOPE DEFICIENCY,OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME,Olfactory Neuroblastoma,Oligoarticular juvenile idiopathic arthritis,Oligoastrocytoma,Oligodendroglioma,Oligodontia,Oligodontia-cancer predisposition syndrome,Oligodontia-colorectal cancer syndrome,OLIVER-MCFARLANE SYNDROME,Ollier disease,Olmsted syndrome,Olmsted syndrome 1,OLMSTED SYNDROME 2,OLMSTED SYNDROME X-LINKED,OMENN SYNDROME,OMODYSPLASIA 1,OMODYSPLASIA 2,omodysplasia type 1 (OMOD1),ONECUT1-associated neonatal diabetes,ONYCHODYSTROPHY OSTEODYSTROPHY IMPAIRED INTELLECTUAL DEVELOPMENT AND SEIZURES SYNDROME,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16,Oocyte/zygote/embryo maturation arrest 17,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18,Oocyte/zygote/embryo maturation arrest 19,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 3,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 5,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 6,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 8,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9,OPHTHALMOACROMELIC SYNDROME,OPHTHALMOPLEGIA EXTERNAL WITH RIB AND VERTEBRAL ANOMALIES,Opitz G/BBB Syndrome X-Linked,Opitz GBBB syndrome,OPITZ-KAVEGGIA SYNDROME,Opsismodysplasia,Optic atrophy,OPTIC ATROPHY 1,OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA IMPAIRED INTELLECTUAL DEVELOPMENT AND SEIZURES,Optic atrophy 10 with or without ataxia INTELLECTUAL DEVELOPMENTAL DISORDER and seizures,OPTIC ATROPHY 11,OPTIC ATROPHY 12,OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES,OPTIC ATROPHY 3 AUTOSOMAL DOMINANT,Optic atrophy 3 with cataract,OPTIC ATROPHY 5,OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY,OPTIC ATROPHY 9,Optic atrophy plus syndrome,OPTIC ATROPHY WITH OR WITHOUT DEAFNESS OPHTHALMOPLEGIA MYOPATHY ATAXIA AND NEUROPATHY,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,Optic atrophy-intellectual disability syndrome,OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY,OPTIC NERVE HYPOPLASIA BILATERALOPTIC NERVE APLASIA BILATERAL INCLUDED,oral squamous cell carcinoma,ORAL-FACIAL-DIGITAL SYNDROME TYPE 1,Oral-facial-digital syndrome with short stature and brachymesophalangy,ORNITHINE TRANSCARBAMYLASE DEFICIENCY,ORNITHINE TRANSCARBAMYLASE DEFICIENCY HYPERAMMONEMIA DUE TO,OROFACIAL CLEFT 10,OROFACIAL CLEFT 11,Orofacial cleft 15,OROFACIAL CLEFT 5,OROFACIAL CLEFT 6 SUSCEPTIBILITY TO,OROFACIAL CLEFT 8,Orofaciodigital syndrome,OROFACIODIGITAL SYNDROME I,OROFACIODIGITAL SYNDROME IV,Orofaciodigital syndrome type 1,Orofaciodigital syndrome type 14,Orofaciodigital syndrome type 2,Orofaciodigital syndrome type 3,Orofaciodigital syndrome type 4,Orofaciodigital syndrome type 5,Orofaciodigital syndrome type 6,OROFACIODIGITAL SYNDROME V,OROFACIODIGITAL SYNDROME VI,OROFACIODIGITAL SYNDROME XIV,OROFACIODIGITAL SYNDROME XIX,Orofaciodigital syndrome XV,OROFACIODIGITAL SYNDROME XVI,OROFACIODIGITAL SYNDROME XVII,OROFACIODIGITAL SYNDROME XVIII,OROTIC ACIDURIA,OROTIC ACIDURIA TYPE 1,ORTHOSTATIC HYPOTENSION 1,ORTHOSTATIC HYPOTENSION 2,ORTHOSTATIC INTOLERANCE,OSSEOUS HETEROPLASIA PROGRESSIVE,ossifying fibroma,Ossifying Renal Tumor of Infancy,OSTEOARTHRITIS SUSCEPTIBILITY 1,OSTEOARTHRITIS SUSCEPTIBILITY 2,OSTEOARTHRITIS SUSCEPTIBILITY 3,OSTEOARTHRITIS SUSCEPTIBILITY 5,OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA,OSTEOCHONDRODYSPLASIA BRACHYDACTYLY AND OVERLAPPING MALFORMED DIGITS,OSTEOCHONDRODYSPLASIA COMPLEX LETHAL SYMOENS-BARNES-GISTELINCK TYPE,Osteocraniostenosis,Osteofibrous dysplasia,OSTEOFIBROUS DYSPLASIA SUSCEPTIBILITY TO,OSTEOGENESIS IMPERFECTA,Osteogenesis imperfecta congenita type II,Osteogenesis imperfecta type 1,Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4,Osteogenesis imperfecta type 5,OSTEOGENESIS IMPERFECTA TYPE I,OSTEOGENESIS IMPERFECTA TYPE II,OSTEOGENESIS IMPERFECTA TYPE IIA,OSTEOGENESIS IMPERFECTA TYPE III,OSTEOGENESIS IMPERFECTA TYPE IV,OSTEOGENESIS IMPERFECTA TYPE IX,OSTEOGENESIS IMPERFECTA TYPE V,OSTEOGENESIS IMPERFECTA TYPE VI,OSTEOGENESIS IMPERFECTA TYPE VII,OSTEOGENESIS IMPERFECTA TYPE VIII,OSTEOGENESIS IMPERFECTA TYPE X,OSTEOGENESIS IMPERFECTA TYPE XI,OSTEOGENESIS IMPERFECTA TYPE XII,OSTEOGENESIS IMPERFECTA TYPE XIII,OSTEOGENESIS IMPERFECTA TYPE XIV,OSTEOGENESIS IMPERFECTA TYPE XIX,OSTEOGENESIS IMPERFECTA TYPE XV,OSTEOGENESIS IMPERFECTA TYPE XVI,OSTEOGENESIS IMPERFECTA TYPE XVII,OSTEOGENESIS IMPERFECTA TYPE XVIII,OSTEOGENESIS IMPERFECTA TYPE XX,OSTEOGENESIS IMPERFECTA TYPE XXI,Osteogenesis imperfecta type XXII,OSTEOGENIC SARCOMA,OSTEOGLOPHONIC DYSPLASIA,Osteoglosphonic dysplasia,Osteomyelitis sterile multifocal with periostitis and pustulosis,OSTEOOTOHEPATOENTERIC SYNDROME,OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS,Osteopathia striata-cranial sclerosis syndrome,OSTEOPETROSIS AUTOSOMAL DOMINANT 1,OSTEOPETROSIS AUTOSOMAL DOMINANT 2,OSTEOPETROSIS AUTOSOMAL DOMINANT 3,Osteopetrosis autosomal dominant type 1,OSTEOPETROSIS AUTOSOMAL RECESSIVE 1,OSTEOPETROSIS AUTOSOMAL RECESSIVE 2,OSTEOPETROSIS AUTOSOMAL RECESSIVE 3,OSTEOPETROSIS AUTOSOMAL RECESSIVE 4,OSTEOPETROSIS AUTOSOMAL RECESSIVE 5,OSTEOPETROSIS AUTOSOMAL RECESSIVE 6,OSTEOPETROSIS AUTOSOMAL RECESSIVE 7,OSTEOPETROSIS AUTOSOMAL RECESSIVE 8,Osteopetrosis autosomal recessive 9,OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3,Osteopetrosis with renal tubular acidosis,Osteopetrosis-hypogammaglobulinemia syndrome,OSTEOPOROSIS,OSTEOPOROSIS CHILDHOOD- OR JUVENILE-ONSET WITH DEVELOPMENTAL DELAY,OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME,OSTEOSARCOMA,Osteosclerosis-developmental delay-craniosynostosis syndrome,Osteosclerotic metaphyseal dysplasia,OTITIS MEDIA SUSCEPTIBILITY TO,Otodental syndrome,OTOFACIOCERVICAL SYNDROME,OTOFACIOCERVICAL SYNDROME 1,OTOFACIOCERVICAL SYNDROME 2 WITH T-CELL DEFICIENCY,Otopalatodigital Syndrome,Otopalatodigital syndrome type 1,Otopalatodigital syndrome type 2,OTOPALATODIGITAL SYNDROME TYPE I,OTOPALATODIGITAL SYNDROME TYPE II,Otospondylomegaepiphyseal dysplasia,OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT,OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL RECESSIVE,OTUD5-associated neurodevelopmental disorder,Otulin-related auto inflammatory syndrome,OVALOCYTOSIS SOUTHEAST ASIAN,ovarian adenocarcinoma,OVARIAN CANCER OVARIAN CANCER EPITHELIAL INCLUDED,ovarian carcinoma,Ovarian Carcinosarcoma,ovarian clear cell adenocarcinoma,OVARIAN DYSGENESIS 1,OVARIAN DYSGENESIS 10,OVARIAN DYSGENESIS 2,OVARIAN DYSGENESIS 3,OVARIAN DYSGENESIS 4,OVARIAN DYSGENESIS 5,OVARIAN DYSGENESIS 6,OVARIAN DYSGENESIS 7,OVARIAN DYSGENESIS 8,OVARIAN DYSGENESIS 9,Ovarian Dysgerminoma,Ovarian Embryonal Carcinoma,Ovarian Endometrioid Adenocarcinoma,Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation,Ovarian Germ Cell Tumor,OVARIAN HYPERSTIMULATION SYNDROME,Ovarian Leydig Cell Tumor,ovarian mucinous adenocarcinoma,Ovarian neoplasm,ovarian teratoma,Ovarian Tumor of the Thecoma/Fibroma Group,Ovarian Yolk Sac Tumor,OVARIOLEUKODYSTROPHY,Overgrowth-macrocephaly-facial dysmorphism syndrome,Overhydrated hereditary stomatocytosis,OXOGLUTARATE DEHYDROGENASE DEFICIENCY,Oxoglutaric aciduria,Pachydermoperiostosis,PACHYGYRIA MICROCEPHALY DEVELOPMENTAL DELAY AND DYSMORPHIC FACIES WITH OR WITHOUT SEIZURES,Pachyonychia congenita,Pachyonychia congenita 1,Pachyonychia congenita 1 Jadassohn-Lewandowsky,Pachyonychia congenita 2,Pachyonychia congenita 2 Jackson-Lawler,PACHYONYCHIA CONGENITA 3,PACHYONYCHIA CONGENITA 4,PAGANINI-MIOZZO SYNDROME,Paget disease of bone,PAGET DISEASE OF BONE 2 EARLY-ONSET,PAGET DISEASE OF BONE 3,PAGET DISEASE OF BONE 5 JUVENILE-ONSET,PAGET DISEASE OF BONE 6,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,PALB2 related CANCER,PALLISTER-HALL SYNDROME,PALLISTER-HALL-LIKE SYNDROME,PALMOPLANTAR CARCINOMA MULTIPLE SELF-HEALING,PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46XX SEX REVERSAL PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM INCLUDED,PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1,Palmoplantar keratoderma and woolly hair,PALMOPLANTAR KERATODERMA BOTHNIAN TYPE,PALMOPLANTAR KERATODERMA EPIDERMOLYTIC,PALMOPLANTAR KERATODERMA I STRIATE FOCAL OR DIFFUSE,PALMOPLANTAR KERATODERMA NAGASHIMA TYPE,PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC,PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 1,PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 2,Palmoplantar keratoderma nonepidermolytic focal or diffuse,PALMOPLANTAR KERATODERMA PUNCTATE TYPE IA,PALMOPLANTAR KERATODERMA WITH DEAFNESS,Palmoplantar keratoderma-deafness syndrome,Palmoplantar keratoderma-esophageal carcinoma syndrome,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,PAN2-related neurodevelopmental disorder with multiple congenital anomalies,Pancreatic Acinar Cell Carcinoma,Pancreatic adenocarcinoma,PANCREATIC AGENESIS,PANCREATIC AGENESIS 1,PANCREATIC AGENESIS 2,Pancreatic agenesis diaphragmatic hernia and congenital heart defects,Pancreatic agenesis-holoprosencephaly syndrome,PANCREATIC AND CEREBELLAR AGENESIS,Pancreatic Cancer,PANCREATIC CANCER SUSCEPTIBILITY TO 1,PANCREATIC CANCER SUSCEPTIBILITY TO 2,PANCREATIC CANCER SUSCEPTIBILITY TO 3,PANCREATIC CANCER SUSCEPTIBILITY TO 4,PANCREATIC CANCER SUSCEPTIBILITY TO 5,pancreatic carcinoma,pancreatic ductal adenocarcinoma,Pancreatic Gastrinoma,Pancreatic Glucagonoma,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,Pancreatic insufficiency-anemia-hyperostosis syndrome,Pancreatic Large Cell Neuroendocrine Carcinoma,PANCREATIC LIPASE DEFICIENCY,pancreatic neoplasm,pancreatic neuroendocrine tumor,PANCREATITIS HEREDITARY,Pancytopenia due to IKZF1 mutations,Pancytopenia-developmental delay syndrome,PANHYPOPITUITARISM X-LINKED,PANIC DISORDER 1,PAPA syndrome,Papillary Craniopharyngioma,Papillary Meningioma,Papillary renal cell carcinoma,PAPILLOMA OF CHOROID PLEXUS,Papillon-Lefevre syndrome,PAPILLORENAL SYNDROME,Paraganglioma,PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA,PARAGANGLIOMAS,PARAGANGLIOMAS 1,PARAGANGLIOMAS 1 WITH OR WITHOUT DEAFNESS,PARAGANGLIOMAS 2,Paragangliomas 3,PARAGANGLIOMAS 4,PARAGANGLIOMAS 5,PARAGANGLIOMAS 6,PARAGANGLIOMAS 7,PARAMYOTONIA CONGENITA OF VON EULENBURG,PARAOXONASE 1,Parastremmatic dwarfism,Parathyroid adenoma,PARATHYROID CARCINOMA,Parathyroid Gland Carcinoma,Parenti-Mignot neurodevelopmental syndrome,PARIETAL FORAMINA 1,PARIETAL FORAMINA 2,Parietal foramina with clavicular hypoplasia,PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA,Paris-Trousseau thrombocytopenia,PARKES WEBER SYNDROME,PARKINSON DISEASE 1 AUTOSOMAL DOMINANT,PARKINSON DISEASE 11 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO,PARKINSON DISEASE 13 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO,PARKINSON DISEASE 14 AUTOSOMAL RECESSIVE,PARKINSON DISEASE 15 AUTOSOMAL RECESSIVE EARLY-ONSET,PARKINSON DISEASE 17,PARKINSON DISEASE 18 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO,PARKINSON DISEASE 19A JUVENILE-ONSET,PARKINSON DISEASE 2 AUTOSOMAL RECESSIVE JUVENILE,Parkinson disease 20 early-onset,PARKINSON DISEASE 22 AUTOSOMAL DOMINANT,PARKINSON DISEASE 23 AUTOSOMAL RECESSIVE EARLY-ONSET,PARKINSON DISEASE 24 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO,PARKINSON DISEASE 4 AUTOSOMAL DOMINANT,PARKINSON DISEASE 5 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO,PARKINSON DISEASE 6 AUTOSOMAL RECESSIVE EARLY-ONSET,PARKINSON DISEASE 7 AUTOSOMAL RECESSIVE EARLY-ONSET,PARKINSON DISEASE 8 AUTOSOMAL DOMINANT,Parkinson disease 9,Parkinson disease late-onset,Parkinson-dementia complex of Guam,PARKINSON-DEMENTIA SYNDROME SUPRANUCLEAR PALSY PROGRESSIVE 1 ATYPICAL INCLUDED,Parkinsonian-pyramidal syndrome,PARKINSONISM WITH POLYNEUROPATHY,PARKINSONISM WITH SPASTICITY X-LINKED,PARKINSONISM-DYSTONIA 1 INFANTILE-ONSET,PARKINSONISM-DYSTONIA 2 INFANTILE-ONSET,Parkinsonism-dystonia 3 childhood-onset,Parotid Gland Carcinoma,Parotid Gland Carcinoma ex Pleomorphic Adenoma,Parotid Gland Pleomorphic Adenoma,Parotid Gland Squamous Cell Carcinoma,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,Paroxysmal exertion-induced dyskinesia,PAROXYSMAL EXTREME PAIN DISORDER,Paroxysmal kinesigenic dyskinesia,Paroxysmal nocturnal hemoglobinuria,PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1,PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2,Paroxysmal non-kinesigenic dyskinesia,PAROXYSMAL NONKINESIGENIC DYSKINESIA 1,PAROXYSMAL NONKINESIGENIC DYSKINESIA 3 WITH OR WITHOUT GENERALIZED EPILEPSY,Partial androgen insensitivity syndrome,Partial atrioventricular septal defect with ventricular hypoplasia,Partial atrioventricular septal defect without ventricular hypoplasia,Partial chromosome Y deletion,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,Partial hydatidiform mole,Partial pancreatic agenesis,Partington syndrome,PATENT DUCTUS ARTERIOSUS 2,PATENT DUCTUS ARTERIOSUS 3,Paternal uniparental disomy of chromosome 6,PBX1-related developmental disorder monoallelic,PCBP2-related developmental disorder monoallelic,PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures,PCNA-related progressive neurodegenerative photosensitivity syndrome,PDE4D haploinsufficiency syndrome,PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy,PEComa,Pediatric hepatocellular carcinoma,Pediatric multiple sclerosis,Pediatric systemic lupus erythematosus,PEELING SKIN SYNDROME 1,PEELING SKIN SYNDROME 2,Peeling skin syndrome 3,PEELING SKIN SYNDROME 4,PEELING SKIN SYNDROME 5,PEELING SKIN SYNDROME 6,Peeling skin syndrome acral type,Peeling skin syndrome type A,Peeling skin syndrome type B,PEELING SKIN WITH LEUKONYCHIA ACRAL PUNCTATE KERATOSES CHEILITIS AND KNUCKLE PADS,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,PEHO Like condition,PEHO syndrome,PEHO-like syndrome,PELGER-HUET ANOMALY,PELIZAEUS-MERZBACHER DISEASE,Pelizaeus-Merzbacher disease classic form,Pelizaeus-Merzbacher disease connatal form,Pelizaeus-Merzbacher disease in female carriers,Pelizaeus-Merzbacher disease transitional form,Pelizaeus-Merzbacher-like disease,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,Pelviscapular dysplasia,PENDRED SYNDROME,Pentosuria,PEPSINOGEN 3 GROUP I,PERCHING syndrome,Perinatal lethal hypophosphatasia,PERIODIC FEVER FAMILIAL AUTOSOMAL DOMINANT,PERIODIC FEVER IMMUNODEFICIENCY AND THROMBOCYTOPENIA SYNDROME,PERIODIC FEVER MENSTRUAL CYCLE-DEPENDENT,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,Periodic paralysis with later-onset distal motor neuropathy,Periodic paralysis with transient compartment-like syndrome,Periodontal Ehlers-Danlos syndrome,PERIODONTITIS AGGRESSIVE 1,PERIPHERAL DEMYELINATING NEUROPATHY CENTRAL DYSMYELINATING LEUKODYSTROPHY WAARDENBURG SYNDROME AND HIRSCHSPRUNG DISEASE,PERIPHERAL DEMYELINATING NEUROPATHY CENTRAL DYSMYELINATION WAARDENBURG SYNDROME AND HIRSCHSPRUNG DISEASE,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,PERIPHERAL MOTOR NEUROPATHY CHILDHOOD-ONSET BIOTIN-RESPONSIVE,PERIPHERAL NEUROPATHY AUTOSOMAL RECESSIVE WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT,PERIPHERAL NEUROPATHY MYOPATHY HOARSENESS AND HEARING LOSS,PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY EXERCISE INTOLERANCE AND DEVELOPMENTAL DELAY,Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,Peripheral primitive neuroectodermal tumor,Peritoneal Multicystic Mesothelioma,Peritoneal Well Differentiated Papillary Mesothelioma,Periventricular Heterotopia,Periventricular Heterotopia with Microcephaly,Periventricular Heterotopia with Microcephaly autosomal recessive,periventricular neuronal heterotopia,Periventricular nodular heterotopia,Periventricular nodular heterotopia 1,Periventricular nodular heterotopia 6,PERIVENTRICULAR NODULAR HETEROTOPIA 7,PERIVENTRICULAR NODULAR HETEROTOPIA 8,PERIVENTRICULAR NODULAR HETEROTOPIA 9,PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1,Periventricular nodular heterotopia with ID cleft palate and 2.3 toe syndactyly,Perlman syndrome,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY,Peroxisomal fatty acyl-coa reductase 1 disorder,Peroxisome biogenesis disorder 10A,PEROXISOME BIOGENESIS DISORDER 10A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 10B,PEROXISOME BIOGENESIS DISORDER 11A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 11B,Peroxisome biogenesis disorder 12A,PEROXISOME BIOGENESIS DISORDER 12A ZELLWEGER,Peroxisome biogenesis disorder 13A,PEROXISOME BIOGENESIS DISORDER 13A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 14B,Peroxisome biogenesis disorder 1A,PEROXISOME BIOGENESIS DISORDER 1A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 1B,PEROXISOME BIOGENESIS DISORDER 2A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 2B,PEROXISOME BIOGENESIS DISORDER 3A ZELLWEGER,Peroxisome biogenesis disorder 3B,PEROXISOME BIOGENESIS DISORDER 4A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 4B,PEROXISOME BIOGENESIS DISORDER 5A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 5B,PEROXISOME BIOGENESIS DISORDER 6A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 6B,PEROXISOME BIOGENESIS DISORDER 7A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 7B,PEROXISOME BIOGENESIS DISORDER 8A ZELLWEGER,PEROXISOME BIOGENESIS DISORDER 8B,PEROXISOME BIOGENESIS DISORDER 9B,PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1,PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11,PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12,PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13,Peroxisome biogenesis disorder complementation group 3,PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4,PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5,PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7,PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9,PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K,PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA,Perrault syndrome,PERRAULT SYNDROME 1,PERRAULT SYNDROME 2,PERRAULT SYNDROME 3,Perrault syndrome 4,PERRAULT SYNDROME 5,PERRAULT SYNDROME 6,Perrault syndrome type 1,Perrault syndrome type 2,PERRY SYNDROME,Persistent hyperplastic primary vitreous,Persistent hyperplastic primary vitreous autosomal recessive,Persistent Hypotonia Encephalopathy Growth Retardation and Severe Intellectual Disability,Persistent Mullerian duct syndrome,PERSISTENT MULLERIAN DUCT SYNDROME TYPES I AND II,Persistent polyclonal B-cell lymphocytosis,PETERS ANOMALY,Peters plus syndrome,PETERS-PLUS SYNDROME,PETTIGREW SYNDROME,Peutz-Jeghers Syndrome,PFEIFFER SYNDROME,Pfeiffer syndrome type 1,Pfeiffer syndrome type 2,Pfeiffer syndrome type 3,PGM1-CDG,PGM2L1-related neurodevelopmental disorder,PGM3-CDG,PHACTR1-associated neurodevelopment disorder,Phakomatosis cesioflammea,Phakomatosis cesiomarmorata,Phakomatosis pigmentokeratotica,PHARC,pharyngeal squamous cell carcinoma,Phelan-McDermid syndrome,Phenocopy of Proximal 1p36 Deletions,PHENYLKETONURIA,Pheochromocytoma,PHEOCHROMOCYTOMA SUSCEPTIBILITY TO,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,Phocomelia Schinzel type,Phosphoenolpyruvate carboxykinase deficiency,PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY CYTOSOLIC,PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY MITOCHONDRIAL,PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY,Phosphohydroxylysinuria,PHOSPHOLIPID TRANSFER PROTEIN,PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY,PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY,PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY,Phosphoserine aminotransferase deficiency infantile/juvenile form,PHOSPHOSERINE PHOSPHATASE DEFICIENCY,PI4KA-associated polymicrogyria perisylvian with cerebellar hypoplasia and arthrogryposis,PICK DISEASE OF BRAIN,PIDD1-related neurodevelopmental disorder,Piebald trait,PIEBALDISM,PIERPONT SYNDROME,PIERRE ROBIN SEQUENCE,PIERSON SYNDROME,PIGK-associated Neurodevelopmental Syndrome,Pigmentary disorder reticulate with systemic manifestations X-linked,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 1,PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 2,PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 3,PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 4,PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY,Pigmented paravenous retinochoroidal atrophy,PILAROWSKI-BJORNSSON SYNDROME,Pilomatrixoma,Pilomyxoid astrocytoma,PINEAL HYPERPLASIA INSULIN-RESISTANT DIABETES MELLITUS AND SOMATIC ABNORMALITIES,Pitt Hopkins 2,PITT-HOPKINS SYNDROME,Pitt-Hopkins-like syndrome 1,Pitt-Hopkins-like syndrome 2,PITUITARY ADENOMA 1 MULTIPLE TYPES,PITUITARY ADENOMA 2 GROWTH HORMONE-SECRETING,PITUITARY ADENOMA 3 MULTIPLE TYPES,PITUITARY ADENOMA 4 ACTH-SECRETING,PITUITARY ADENOMA 5 MULTIPLE TYPES,PITUITARY ADENOMA PREDISPOSITION,Pituitary Dwarfism II,Pituitary gigantism,Pituitary Gland Adenoma,PITUITARY HORMONE DEFICIENCY COMBINED 2,PITUITARY HORMONE DEFICIENCY COMBINED 3,PITUITARY HORMONE DEFICIENCY COMBINED 4,PITUITARY HORMONE DEFICIENCY COMBINED 6,PITUITARY HORMONE DEFICIENCY COMBINED OR ISOLATED 1,PITUITARY HORMONE DEFICIENCY COMBINED OR ISOLATED 7,Pituitary hormone deficiency combined or isolated 8,pituitary hormone deficiency combined type 3,Pituitary stalk interruption syndrome,Pityriasis rubra pilaris,PKP2-related  ARVC,PLAA-associated neurodevelopmental disorder,Placental Choriocarcinoma,Plaque-form urticaria pigmentosa,PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS,plasmacytoma,PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY,PLASMINOGEN DEFICIENCY TYPE I LIGNEOUS CONJUNCTIVITIS INCLUDED,PLATELET DISORDER FAMILIAL WITH ASSOCIATED MYELOID MALIGNANCY,PLATELET GLYCOPROTEIN IV DEFICIENCY,PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY,Platyspondylic dysplasia Torrance type,PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE,Platyspondyly with amelogenesis imperfecta,PLCG2-associated antibody deficiency and immune dysregulation,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,Plectin-related  limb-girdle muscular dystrophy R17,pleomorphic liposarcoma,Pleomorphic rhabdomyosarcoma,Pleomorphic salivary gland adenoma,Pleural Biphasic Mesothelioma,Pleural Epithelioid Mesothelioma,Pleural Mesothelioma,PLEUROPULMONARY BLASTOMA,PLG-related hereditary angioedema with normal C1Inh,PLIN1-related familial partial lipodystrophy,PLN-related Intrinsic Cardiomyopathy,PLXNA1-associated neurodevelopmental disorder biallelic,PLXNA1-associated neurodevelopmental disorder with seizures monoallelic,PLXND1-related cardiac malformation syndrome,PMM2-CDG,PMP2-related Charcot-Marie-Tooth disease type 1,PMP22-RAI1 contiguous gene duplication syndrome,Pneumothorax primary spontaneous,PNPLA6-related Disorder,PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate,POGLUT1-related  limb-girdle muscular dystrophy R21,Poikiloderma hereditary fibrosing with tendon contractures myopathy and pulmonary fibrosis,POIKILODERMA WITH NEUTROPENIA,POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME,POLR1C-related Leukodystrophy,POLR3B-related neurodevelopmental disorder,POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE,POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE,POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE,POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE,POLYCYSTIC KIDNEY DISEASE 5,POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE,Polycystic kidney disease 7,POLYCYSTIC KIDNEY DISEASE AUTOSOMAL RECESSIVE,Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1,POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2,POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS,POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS,POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS,POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS,POLYCYTHEMIA VERA,Polydactyly of a biphalangeal thumb and/or hallux,Polydactyly of a triphalangeal thumb,POLYDACTYLY POSTAXIAL TYPE A1,POLYDACTYLY POSTAXIAL TYPE A10,POLYDACTYLY POSTAXIAL TYPE A6,POLYDACTYLY POSTAXIAL TYPE A7,POLYDACTYLY POSTAXIAL TYPE A8,POLYDACTYLY POSTAXIAL TYPE A9,POLYDACTYLY PREAXIAL I,POLYDACTYLY PREAXIAL II,POLYDACTYLY PREAXIAL IV,Polyendocrine-polyneuropathy syndrome,POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY,POLYGLUCOSAN BODY MYOPATHY 2,Polyglucosan body myopathy type 1,Polyglucosan body myopathy type 2,POLYGLUCOSAN BODY NEUROPATHY ADULT FORM,POLYHYDRAMNIOS MEGALENCEPHALY AND SYMPTOMATIC EPILEPSY,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,Polymerase proofreading associated polyposis,Polymerase proofreading-related adenomatous polyposis,Polymicrogyria,POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS,POLYMICROGYRIA ASYMMETRIC,Polymicrogyria bilateral temporooccipital,Polymicrogyria due to TUBB2B mutation,POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA,POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME,Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,Polyostotic fibrous dysplasia,POLYPOSIS SYNDROME HEREDITARY MIXED 2,POLYSUBSTANCE ABUSE SUSCEPTIBILITY TO,Polysyndactyly,Polyvalvular heart disease syndrome,POMGNT1-related  limb-girdle muscular dystrophy R15,POMT1-related  limb-girdle muscular dystrophy R11,POMT2-related  limb-girdle muscular dystrophy R14,Pontine autosomal dominant microangiopathy with leukoencephalopathy,Pontocerebellar hypoplasia,Pontocerebellar hypoplasia and microcephaly,Pontocerebellar Hypoplasia and Progressive Microcephaly,PONTOCEREBELLAR HYPOPLASIA HYPOTONIA AND RESPIRATORY INSUFFICIENCY SYNDROME NEONATAL LETHAL,Pontocerebellar hypoplasia type 1,Pontocerebellar hypoplasia type 10,PONTOCEREBELLAR HYPOPLASIA TYPE 11,PONTOCEREBELLAR HYPOPLASIA TYPE 12,PONTOCEREBELLAR HYPOPLASIA TYPE 13,PONTOCEREBELLAR HYPOPLASIA TYPE 14,PONTOCEREBELLAR HYPOPLASIA TYPE 15,Pontocerebellar hypoplasia type 16,PONTOCEREBELLAR HYPOPLASIA TYPE 17,PONTOCEREBELLAR HYPOPLASIA TYPE 1A,PONTOCEREBELLAR HYPOPLASIA TYPE 1B,PONTOCEREBELLAR HYPOPLASIA TYPE 1C,PONTOCEREBELLAR HYPOPLASIA TYPE 1D,PONTOCEREBELLAR HYPOPLASIA TYPE 1E,PONTOCEREBELLAR HYPOPLASIA TYPE 1F,Pontocerebellar hypoplasia type 2,Pontocerebellar Hypoplasia Type 2 and Type 4,PONTOCEREBELLAR HYPOPLASIA TYPE 2A,PONTOCEREBELLAR HYPOPLASIA TYPE 2B,PONTOCEREBELLAR HYPOPLASIA TYPE 2C,PONTOCEREBELLAR HYPOPLASIA TYPE 2D,Pontocerebellar hypoplasia type 2E,PONTOCEREBELLAR HYPOPLASIA TYPE 2F,Pontocerebellar hypoplasia type 3,Pontocerebellar hypoplasia type 4,PONTOCEREBELLAR HYPOPLASIA TYPE 5,Pontocerebellar hypoplasia type 6,Pontocerebellar hypoplasia type 7,Pontocerebellar hypoplasia type 8,Pontocerebellar hypoplasia type 9,Poorly Differentiated Thyroid Gland Carcinoma,POPLITEAL PTERYGIUM SYNDROME,Popliteal pterygium syndrome lethal type,PORENCEPHALY 1,Porencephaly 2,Porencephaly-microcephaly-bilateral congenital cataract syndrome,Poretti-boltshauser syndrome,POROKERATOSIS 1 MULTIPLE TYPES,POROKERATOSIS 3 MULTIPLE TYPES,Porokeratosis 7 multiple types,POROKERATOSIS 8 DISSEMINATED SUPERFICIAL ACTINIC TYPE,POROKERATOSIS 9 MULTIPLE TYPES,Porokeratosis of Mibelli,Porokeratotic eccrine ostial and dermal duct nevus,Poroma,PORPHYRIA ACUTE HEPATIC,PORPHYRIA ACUTE INTERMITTENT,PORPHYRIA CONGENITAL ERYTHROPOIETIC,PORPHYRIA CUTANEA TARDA,Porphyria due to ALA dehydratase deficiency,PORPHYRIA VARIEGATA,PORTAL HYPERTENSION NONCIRRHOTIC 1,PORTAL HYPERTENSION NONCIRRHOTIC 2,Postaxial acrofacial dysostosis,Postaxial Polydactyly Type A,Postaxial polydactyly type B,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,Posterior Amelia with Pelvic and Pulmonary Hypoplasia,POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA,Posterior column ataxia-retinitis pigmentosa syndrome,Posterior polymorphous corneal dystrophy,Posterior Polymorphous Corneal Dystrophy 4,Posterior urethral valve,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,Posteriorly predominant pachygyria and severe microcephaly,Postnatal microcephaly hypomyelination and reduced cerebral white-Matter volume,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,Postsynaptic congenital myasthenic syndromes,Postural orthostatic tachycardia syndrome due to NET deficiency,POTOCKI-LUPSKI SYNDROME,Potocki-Shaffer syndrome,POU1F1-Related Combined Pituitary Hormone Deficiency,POU4F1-related ataxia intention tremor and hypotonia syndrome,PPARG-related familial partial lipodystrophy,PPFIBP1-related neurodevelopmental disorder,PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly,PPK + oesophageal cancer,PPK Bothnia,PPK Mal de Meleda transgrediens,PPK Naxos + woolly hair + ECG abnormalities NAXOS disease,PPK striate,PPK Vohwinkel classical,PPK Vohwinkel+ichthyosis variant,PPK Vorner-Unna-Thost epidermolytic,PPK Vorner-Unna-Thost non-epidermolytic,PPM1D syndrome,PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations,PPP1R13L-related dilated cardiomyopathy,PPP1R21-related neurodevelopmental disorder,PRADER-WILLI SYNDROME,Prader-Willi syndrome due to imprinting mutation,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,Prader-Willi syndrome due to translocation,PRDM13-related olivopentocerebellar hypoplasia syndrome,PRDM15-related renal and neurodevelopmental disorder,PRDX3-associated cerebellar ataxia,PREAXIAL DEFICIENCY POSTAXIAL POLYDACTYLY AND HYPOSPADIAS,PRECOCIOUS PUBERTY CENTRAL 1,Precocious puberty central 2,PRECOCIOUS PUBERTY MALE-LIMITED,Precursor T-cell acute lymphoblastic leukemia,Predisposition to ependymoma,Predisposition to invasive fungal disease due to CARD9 deficiency,Predisposition to severe viral infection due to IRF7 deficiency,Preeclampsia,PREECLAMPSIA/ECLAMPSIA 1,PREECLAMPSIA/ECLAMPSIA 4,PREECLAMPSIA/ECLAMPSIA 5,PREGNANCY LOSS RECURRENT SUSCEPTIBILITY TO 1,PREGNANCY LOSS RECURRENT SUSCEPTIBILITY TO 2,PREGNANCY LOSS RECURRENT SUSCEPTIBILITY TO 3,PREKALLIKREIN DEFICIENCY,PREMATURE AGING SYNDROME PENTTINEN TYPE,PREMATURE CHROMATID SEPARATION TRAIT,PREMATURE OVARIAN FAILURE 1,Premature ovarian failure 10,Premature ovarian failure 11,Premature ovarian failure 12,PREMATURE OVARIAN FAILURE 13,PREMATURE OVARIAN FAILURE 14,PREMATURE OVARIAN FAILURE 15,PREMATURE OVARIAN FAILURE 16,PREMATURE OVARIAN FAILURE 17,PREMATURE OVARIAN FAILURE 18,PREMATURE OVARIAN FAILURE 19,Premature ovarian failure 20,Premature ovarian failure 21,PREMATURE OVARIAN FAILURE 2A,PREMATURE OVARIAN FAILURE 2B,PREMATURE OVARIAN FAILURE 3,Premature ovarian failure 5,PREMATURE OVARIAN FAILURE 6,Premature ovarian failure 7,Premature ovarian failure 8,Premature ovarian failure 9,PREMATURE OVARIAN FAILURE SYNDROME TYPE 1,Prenatal benign hypophosphatasia,Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures,Prenatal-onset spinal muscular atrophy with congenital bone fractures,Presynaptic congenital myasthenic syndromes,PRETERM PREMATURE RUPTURE OF THE MEMBRANES,PRIM1-related Primordial Dwarfism,Primary aldosteronism seizures and neurologic abnormalities,Primary Autosomal Recessive Microcephaly,Primary biliary cholangitis,Primary CD59 deficiency,PRIMARY CILARY DYSKINESIA,Primary ciliary dyskineasia,Primary ciliary dyskinesia,Primary ciliary dyskinesia 33,Primary Ciliary Dyskinesia and Male Infertility,Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms.,Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects,Primary ciliary dyskinesia with central-Complex defects,Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization,PRIMARY CILIARY DYSKINESIA-22,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,Primary ciliary dysplasia,Primary cillary dyskineasia,Primary congenital glaucoma,PRIMARY CONGENITAL GLAUCOMA TYPE 3A,Primary cutaneous anaplastic large cell lymphoma,Primary Cutaneous Diffuse Large B-Cell Lymphoma Leg Type,Primary dystonia DYT2 type,Primary dystonia DYT27 type,Primary dystonia DYT4 type,Primary dystonia DYT6 type,Primary erythromelalgia,PRIMARY FAILURE OF TOOTH ERUPTION,Primary familial polycythemia,Primary Fanconi renotubular syndrome,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,Primary hypereosinophilic syndrome,Primary hyperoxaluria type 1,Primary hyperoxaluria type 2,Primary hyperoxaluria type 3,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,Primary hypomagnesemia with secondary hypocalcemia,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,Primary immunodeficiency syndrome due to LAMTOR2 deficiency,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,Primary Intraosseous Squamous Cell Carcinoma,Primary intraosseous venous malformation,Primary lateral sclerosis,PRIMARY LATERAL SCLEROSIS JUVENILE,Primary mediastinal large B-cell lymphoma,Primary Melanocytic Lesion of Meninges,Primary microcephaly,Primary Microcephaly and Disturbed Centrosomal Function,Primary microcephaly cortical malformation and epileptic encephalopathy,Primary Microcephaly or macrocephaly with developmental delay,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,Primary myelofibrosis,primary open angle glaucoma POAG GLC1E,Primary peritoneal carcinoma,Primary Pulmonary Diffuse Large B-Cell Lymphoma,Primary sclerosing cholangitis,Primary triglyceride deposit cardiomyovasculopathy,Primordial Dwarfism,PRIMORDIAL DWARFISM SECKEL SYNDROME 8,PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME,Primrose syndrome,PRKACA-related Multiple Congenital Malformation Syndrome,PRKACB-related Multiple Congenital Malformation Syndrome,PRKAG2-related cardiomyopathy,PRKAR1B-related developmental disorder,PRKAR1B-related neurodegenerative dementia with intermediate filaments,PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia,Progeroid and marfanoid aspect-lipodystrophy syndrome,Progeroid features-hepatocellular carcinoma predisposition syndrome,PROGEROID SYNDROME,Progeroid syndrome Petty type,PROGESTERONE RESISTANCE,Progressive autosomal recessive ataxia-deafness syndrome,Progressive cavitating leukoencephalopathy,Progressive cerebella-cerebral atrophy type 2,Progressive cerebello-cerebral atrophy,Progressive Childhood Encephalopathy and Golgi Dysfunction,Progressive cone dystrophy,Progressive dementia with neuroserpin inclusion bodies,Progressive encephalopathy with leukodystrophy due to DECR deficiency,Progressive epilepsy-intellectual disability syndrome Finnish type,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,Progressive external ophthalmoplegia autosomal dominant 1,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL DOMINANT 1,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL DOMINANT 2,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL DOMINANT 3,Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 4,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL DOMINANT 5,Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 6,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL RECESSIVE 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive 2,Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive 3,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL RECESSIVE 4,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL RECESSIVE 5,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,PROGRESSIVE FAMILIAL HEART BLOCK TYPE IA,PROGRESSIVE FAMILIAL HEART BLOCK TYPE IB,Progressive familial intrahepatic cholestasis type 1,Progressive familial intrahepatic cholestasis type 2,Progressive familial intrahepatic cholestasis type 3,Progressive familial intrahepatic cholestasis type 4,Progressive familial intrahepatic cholestasis type 5,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,Progressive myoclonic epilepsy type 1,Progressive myoclonic epilepsy type 3,Progressive myoclonic epilepsy type 5,Progressive myoclonic epilepsy type 6,Progressive myoclonic epilepsy type 7,Progressive myoclonic epilepsy type 8,Progressive myoclonic epilepsy type 9,Progressive myoclonic epilepsy with dystonia,Progressive neurological disorder and regression of developmental milestones,Progressive non-fluent aphasia,Progressive osseous heteroplasia,Progressive polyneuropathy with bilateral striatal necrosis,Progressive pseudorheumatoid arthropathy of childhood,Progressive pseudorheumatoid dysplasia,Progressive retinal dystrophy due to retinol transport defect,Progressive scapulohumeroperoneal distal myopathy,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,Progressive Spastic Ataxia and Hypomyelination,PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,Progressive supranuclear palsy - corticobasal syndrome,Progressive supranuclear palsy-parkinsonism syndrome,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,Progressive symmetric erythrokeratodermia,Prolactinoma,PROLIDASE DEFICIENCY,Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome,Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome,PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 1,Prolonged electroretinal response suppression 2,PROP1-Related Combined Pituitary Hormone Deficiency,Properdin deficiency,PROPERDIN DEFICIENCY X-LINKED,PROPIONIC ACIDEMIA,PROPROTEIN CONVERTASE 1/3 DEFICIENCY,PRORP-related mitochondrial disorder,PROSER1-related developmental disorder,prostate adenocarcinoma,Prostate Cancer,PROSTATE CANCER HEREDITARY 1,PROSTATE CANCER HEREDITARY 12,PROSTATE CANCER HEREDITARY 13,PROSTATE CANCER HEREDITARY 2,Prostate cancer hereditary 9,PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY,prostate carcinoma,prostate intraepithelial neoplasia,Proteasome-associated autoinflammatory syndrome,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4,Proteasome-associated autoinflammatory syndrome 5,PROTEIN Z DEFICIENCY,PROTEINURIA CHRONIC BENIGN,PROTEINURIA LOW MOLECULAR WEIGHT WITH HYPERCALCIURIA AND NEPHROCALCINOSIS,Proteus syndrome,Proteus-like syndrome,PROTHROMBIN DEFICIENCY CONGENITAL,Protoplasmic astrocytoma,PROTOPORPHYRIA ERYTHROPOIETIC 1,PROTOPORPHYRIA ERYTHROPOIETIC 2,PROTOPORPHYRIA ERYTHROPOIETIC X-LINKED,Proximal 16p11.2 microdeletion syndrome,Proximal myopathy with extrapyramidal signs,Proximal myopathy with focal depletion of mitochondria,Proximal myotonic myopathy,PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES,Proximal spinal muscular atrophy type 1,Proximal spinal muscular atrophy type 2,Proximal spinal muscular atrophy type 3,Proximal spinal muscular atrophy type 4,Proximal spinal muscular atrophy with brain anomalies,Proximal symphalangism,Proximal Xq28 duplication syndrome,PrP systemic amyloidosis,PRPF8-related developmental disorder monoallelic,Prune belly syndrome,PRUNE1-related neurological syndrome,Psammomatous Meningioma,Pseudo von Willebrand disease,PSEUDO-TORCH SYNDROME 1,PSEUDO-TORCH SYNDROME 2,PSEUDO-TORCH SYNDROME 3,PSEUDOACHONDROPLASIA,PSEUDOFOLLICULITIS BARBAE,PSEUDOHYPERKALEMIA FAMILIAL 2 DUE TO RED CELL LEAK,Pseudohypoaldosteronism type 2B,Pseudohypoaldosteronism type 2C,Pseudohypoaldosteronism type 2D,Pseudohypoaldosteronism type 2E,PSEUDOHYPOALDOSTERONISM TYPE I AUTOSOMAL DOMINANT,PSEUDOHYPOALDOSTERONISM TYPE IB1 AUTOSOMAL RECESSIVE,Pseudohypoaldosteronism type IB2 autosomal recessive,Pseudohypoaldosteronism type IB3 autosomal recessive,PSEUDOHYPOALDOSTERONISM TYPE IIB,PSEUDOHYPOALDOSTERONISM TYPE IIC,PSEUDOHYPOALDOSTERONISM TYPE IID,PSEUDOHYPOALDOSTERONISM TYPE IIE,Pseudohypoparathyroidism Ia,Pseudohypoparathyroidism Ic,Pseudohypoparathyroidism type 1A,Pseudohypoparathyroidism type 1B,Pseudohypoparathyroidism type 1C,PSEUDOHYPOPARATHYROIDISM TYPE IA,PSEUDOHYPOPARATHYROIDISM TYPE IB,PSEUDOHYPOPARATHYROIDISM TYPE IC,Pseudohypoparathyroidism-like disorder,pseudomyxoma peritonei,PSEUDOPSEUDOHYPOPARATHYROIDISM,PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS,Pseudoxanthoma elasticum,PSEUDOXANTHOMA ELASTICUM FORME FRUSTEPSEUDOXANTHOMA ELASTICUM HETEROZYGOUS INCLUDED,Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency,PSEUDOXANTHOMA ELASTICUM-LIKE SKIN MANIFESTATIONS WITH EYE ANOMALIES,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,Pseudoxanthomatous diffuse cutaneous mastocytosis,PSMC1-related neurodevelopmental disorder,PSMC5-related developmental disorder monoallelic,PSORIASIS 1 SUSCEPTIBILITY TO,PSORIASIS 13 SUSCEPTIBILITY TO,PSORIASIS 15 PUSTULAR SUSCEPTIBILITY TO,Psoriasis 2,PSORIASIS 7 SUSCEPTIBILITY TO,Psoriasis susceptibilty 2,PSORIATIC ARTHRITIS SUSCEPTIBILITY TOPSORIATIC ARTHRITIS SUSCEPTIBILITY TO 1 INCLUDED,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,Pten Hamartoma Tumor Syndrome,Pterin-4 alpha-carbinolamine dehydratase deficiency,PTOSIS HEREDITARY CONGENITAL 1,PTPN11-related Noonan syndrome,PTPN11-related NSML syndrome,PTPN13 related predisposition to bone marrow failure,PUF60 syndrome,PULMONARY ALVEOLAR MICROLITHIASIS,Pulmonary arterial hypertension associated with connective tissue disease,Pulmonary artery and lung hypoplasia agonadism omphalocele diaphragmatic defects hypoplastic left heart and scimitar syndrome,pulmonary blastoma,Pulmonary capillary hemangiomatosis,PULMONARY DISEASE CHRONIC OBSTRUCTIVE,PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME TELOMERE-RELATED 1,PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME TELOMERE-RELATED 3,PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME TELOMERE-RELATED 4,PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME TELOMERE-RELATED 5,PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME TELOMERE-RELATED 6,PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME TELOMERE-RELATED 7,PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME TELOMERE-RELATED 8,PULMONARY HYPERTENSION NEONATAL SUSCEPTIBILITY TO,PULMONARY HYPERTENSION PRIMARY 1,PULMONARY HYPERTENSION PRIMARY 2,PULMONARY HYPERTENSION PRIMARY 3,PULMONARY HYPERTENSION PRIMARY 4,PULMONARY HYPERTENSION PRIMARY 5,PULMONARY VENOOCCLUSIVE DISEASE,PULMONARY VENOOCCLUSIVE DISEASE 1 AUTOSOMAL DOMINANT,PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE,Pulverulent cataract,PUM1-associated developmental disability-ataxia-seizure syndrome,PUM1-related cerebellar ataxia,Punctate palmoplantar keratoderma type 1,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,Pure hair and nail ectodermal dysplasia,PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY,PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae,Pustulosis palmaris et plantaris,PYCNODYSOSTOSIS,PYCR1-related de Barsy syndrome,PYCR2-related microcephaly-progressive leukoencephalopathy,PYLE DISEASE,Pyloric Gland Adenoma,PYOGENIC STERILE ARTHRITIS PYODERMA GANGRENOSUM AND ACNE,Pyridoxal phosphate-responsive seizures,PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY,Pyridoxine-dependent epilepsy,PYROPOIKILOCYTOSIS HEREDITARY,PYRUVATE CARBOXYLASE DEFICIENCY,Pyruvate carboxylase deficiency benign type,Pyruvate carboxylase deficiency infantile type,Pyruvate carboxylase deficiency severe neonatal type,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY,Pyruvate Dehydrogenase E1-Alpha Deficiency in females,PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY,PYRUVATE DEHYDROGENASE E2 DEFICIENCY,Pyruvate dehydrogenase E3 deficiency,PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY,Pyruvate dehydrogenase phosphatase deficiency,PYRUVATE KINASE DEFICIENCY OF RED CELLS,QRICH1 syndrome,QRICH1-related intellectual disability-chondrodysplasia syndrome,QRSL1-related combined oxidative phosphorylation defect,QUEBEC PLATELET DISORDER,Question mark ears isolated,RAB14-related developmental disorder monoallelic,RABIN-PAPPAS SYNDROME,RABSON-MENDENHALL SYNDROME,RAC1-related neurodevelopmental disorder,RAD51C related cancer,RAD51D related cancer,Radial hemimelia,RADIN BLOOD GROUP ANTIGEN,RADIO-TARTAGLIA SYNDROME,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,Radiohumeral fusions with other skeletal and craniofacial anomalies,radiologic finding,RADIOULNAR SYNOSTOSIS NONSYNDROMIC SUSCEPTIBILITY TO,RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA,RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1,Radioulnar synostosis with amegakaryocytic thrombocytopenia 2,RAF1-related Noonan syndrome,RAFIQ SYNDROME,RAHMAN SYNDROME,Raine syndrome,RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1,RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2,RALA-related Neurodevelopmental Syndrome,RALGAPA1-related neurodevelopmental disorder,Ramon syndrome,RAP1B-related developmental disorder,RAPADILINO SYNDROME,RAPH BLOOD GROUP SYSTEM,Rapid-Onset Dystonia-Parkinsonism,RAPP-HODGKIN SYNDROME,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,Rare isolated myopia,Rare mitochondrial non-syndromic sensorineural deafness,Rare X-linked non-syndromic sensorineural deafness type DFN,RARS-related autosomal recessive hypomyelinating leukodystrophy,RARS1 related hypomyelinating leukodystrophy,RAS-associated autoimmune leukoproliferative disease,RAS-associated autoimmune leukoproliferative disorder,Rasopathy with developmental delay short stature and sparse slow-growing hair,Rauch-Steindl syndrome,Ravine syndrome,RAYNAUD-CLAES SYNDROME,RBBP8-related microcephaly and intellectual disability,RBFOX1-related neurodevelopmental disorder,RBM20-related DCM,Reactive arthritis,Recessive dystrophic epidermolysis bullosa inversa,Recessive gain of function causing increased interferon signalling,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,Recessive mitochondrial ataxia syndrome,Recessive Spondylocarpotarsal Synostosis Syndrome,Recessive X-linked ichthyosis,RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1,RECON progeroid syndrome,rectal adenocarcinoma,Rectal Villous Adenoma,Recurrent infection due to specific granule deficiency,Recurrent infections associated with rare immunoglobulin isotypes deficiency,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,Recurrent Neisseria infections due to factor D deficiency,Reducing body myopathy,REDUCING BODY MYOPATHY X-LINKED 1A SEVERE WITH INFANTILE OR EARLYCHILDHOOD ONSET,REDUCING BODY MYOPATHY X-LINKED 1B WITH LATE CHILDHOOD OR ADULTONSET,Refractory anemia,Refractory anemia with excess blasts type 1,Refractory anemia with excess blasts type 2,Refsum disease,REFSUM DISEASE CLASSIC,Regressive spondylometaphyseal dysplasia,Reis-Bucklers corneal dystrophy,RELA fusion-positive ependymoma,REN-related autosomal dominant tubulointerstitial kidney disease,RENAL AGENESIS,Renal agenesis bilateral,Renal agenesis unilateral,renal carcinoma,Renal cell carcinoma,Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions,RENAL CELL CARCINOMA NONPAPILLARY,Renal cell carcinoma papillary 1,RENAL CELL CARCINOMA Xp11-ASSOCIATED,Renal coloboma syndrome,RENAL CYSTS AND DIABETES SYNDROME,Renal dysplasia bilateral,RENAL DYSPLASIA CYSTIC SUSCEPTIBILITY TO,Renal dysplasia unilateral,RENAL GLUCOSURIA,RENAL HYPODYSPLASIA/APLASIA 1,Renal hypodysplasia/aplasia 2,RENAL HYPODYSPLASIA/APLASIA 3,Renal hypodysplasia/aplasia 4,Renal Hypomagnesemia Refractory Seizures and Intellectual Disability,Renal hypoplasia bilateral,renal pelvis carcinoma,Renal pseudohypoaldosteronism type 1,RENAL TUBULAR ACIDOSIS DISTAL 1,RENAL TUBULAR ACIDOSIS DISTAL 2 WITH PROGRESSIVE SENSORINEURAL HEARING LOSS,RENAL TUBULAR ACIDOSIS DISTAL 3 WITH OR WITHOUT SENSORINEURAL HEARING LOSS,RENAL TUBULAR ACIDOSIS DISTAL 4 WITH HEMOLYTIC ANEMIA,Renal tubular acidosis distal AD,Renal tubular acidosis distal AR,RENAL TUBULAR ACIDOSIS PROXIMAL WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT,RENAL TUBULAR ACIDOSIS PROXIMAL WITH OCULAR ABNORMALITIES AND INTELLECTUAL DEVELOPMENTAL DISORDER,RENAL TUBULAR DYSGENESIS,Renal tubular dysgenesis of genetic origin,Renal tubulopathy-encephalopathy-liver failure syndrome,RENAL-COLOBOMA SYNDROME,Renal-Hepatic ciliopathy,RENAL-HEPATIC-PANCREATIC DYSPLASIA,RENAL-HEPATIC-PANCREATIC DYSPLASIA 1,RENAL-HEPATIC-PANCREATIC DYSPLASIA 2,Renin-angiotensin-aldosterone system-blocker-induced angioedema,RENPENNING SYNDROME 1,RERE-related neurodevelopmental syndrome,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,Resistance to thyrotropin-releasing hormone syndrome,Respiratory chain disorder,Respiratory infections recurrent and failure to thrive with or without diarrhea,RESPIRATORY PAPILLOMATOSIS JUVENILE RECURRENT CONGENITAL,REST-related gingival fibromatosis and sensorineural hearing loss,RESTING HEART RATE VARIATION IN,Restrictive dermopathy,RESTRICTIVE DERMOPATHY 1,Restrictive dermopathy 2,RESTRICTIVE DERMOPATHY LETHAL,RETICULAR DYSGENESIS,Reticular dystrophy of the retinal pigment epithelium,Reticulate acropigmentation of Kitamura,RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS,Retinal arterial tortuosity,Retinal arteries tortuosity of,RETINAL CONE DYSTROPHY 3 PDE6H,RETINAL CONE DYSTROPHY 3A,RETINAL CONE DYSTROPHY 3B,RETINAL CONE DYSTROPHY 4,RETINAL DEGENERATION AUTOSOMAL RECESSIVE CLUMPED PIGMENT TYPE,Retinal degeneration late-onset autosomal dominant,Retinal dystrophy,Retinal dystrophy and iris coloboma with or without cataract,RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT,RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE,Retinal dystrophy and obesity,Retinal dystrophy iris coloboma and comedogenic acne syndrome,Retinal dystrophy juvenile cataracts and short stature syndrome,RETINAL DYSTROPHY OPTIC NERVE EDEMA SPLENOMEGALY ANHIDROSIS AND MIGRAINE HEADACHE SYNDROME,Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,RETINAL DYSTROPHY WITH LEUKODYSTROPHY,RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES,RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,Retinal macular dystrophy type 2,Retinal Neoplasm,RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Retinitis pigmentosa,RETINITIS PIGMENTOSA 1,RETINITIS PIGMENTOSA 10,RETINITIS PIGMENTOSA 11,RETINITIS PIGMENTOSA 12,RETINITIS PIGMENTOSA 13,RETINITIS PIGMENTOSA 14,RETINITIS PIGMENTOSA 18,RETINITIS PIGMENTOSA 19,RETINITIS PIGMENTOSA 2,RETINITIS PIGMENTOSA 20,RETINITIS PIGMENTOSA 23,RETINITIS PIGMENTOSA 25,RETINITIS PIGMENTOSA 26,RETINITIS PIGMENTOSA 27,Retinitis Pigmentosa 28,RETINITIS PIGMENTOSA 3,RETINITIS PIGMENTOSA 30,RETINITIS PIGMENTOSA 31,Retinitis pigmentosa 32,RETINITIS PIGMENTOSA 33,RETINITIS PIGMENTOSA 35,RETINITIS PIGMENTOSA 36,RETINITIS PIGMENTOSA 37,RETINITIS PIGMENTOSA 38,RETINITIS PIGMENTOSA 39,RETINITIS PIGMENTOSA 4,Retinitis pigmentosa 4 autosomal dominant or recessive,RETINITIS PIGMENTOSA 40,RETINITIS PIGMENTOSA 41,RETINITIS PIGMENTOSA 42,RETINITIS PIGMENTOSA 43,RETINITIS PIGMENTOSA 44,RETINITIS PIGMENTOSA 45,RETINITIS PIGMENTOSA 46,RETINITIS PIGMENTOSA 47,RETINITIS PIGMENTOSA 48,RETINITIS PIGMENTOSA 49,RETINITIS PIGMENTOSA 50,RETINITIS PIGMENTOSA 51,RETINITIS PIGMENTOSA 54,RETINITIS PIGMENTOSA 55,RETINITIS PIGMENTOSA 56,RETINITIS PIGMENTOSA 57,Retinitis pigmentosa 58,Retinitis pigmentosa 59,Retinitis pigmentosa 60,RETINITIS PIGMENTOSA 61,REtinitis pigmentosa 62,Retinitis pigmentosa 65,RETINITIS PIGMENTOSA 66,Retinitis pigmentosa 67,RETINITIS PIGMENTOSA 68,RETINITIS PIGMENTOSA 69,RETINITIS PIGMENTOSA 7,RETINITIS PIGMENTOSA 70,RETINITIS PIGMENTOSA 71,RETINITIS PIGMENTOSA 72,RETINITIS PIGMENTOSA 73,RETINITIS PIGMENTOSA 74,RETINITIS PIGMENTOSA 75,RETINITIS PIGMENTOSA 76,RETINITIS PIGMENTOSA 77,RETINITIS PIGMENTOSA 78,RETINITIS PIGMENTOSA 79,RETINITIS PIGMENTOSA 80,RETINITIS PIGMENTOSA 81,RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS,RETINITIS PIGMENTOSA 83,RETINITIS PIGMENTOSA 84,RETINITIS PIGMENTOSA 85,RETINITIS PIGMENTOSA 86,RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT,RETINITIS PIGMENTOSA 88,RETINITIS PIGMENTOSA 89,RETINITIS PIGMENTOSA 9,RETINITIS PIGMENTOSA 90,RETINITIS PIGMENTOSA 91,RETINITIS PIGMENTOSA 92,RETINITIS PIGMENTOSA 93,RETINITIS PIGMENTOSA 95,RETINITIS PIGMENTOSA 96,RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS,Retinitis pigmentosa and hypogammaglobulinemia,Retinitis pigmentosa skeletal anomalies and intellectual disability,Retinitis pigmentosa type 49,RETINITIS PIGMENTOSA TYPE 51,RETINITIS PIGMENTOSA TYPE 55,Retinitis pigmentosa with intellectual disability,Retinitis pigmentosa with or without situs inversus,RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES,RETINITIS PIGMENTOSA X-LINKED AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS,RETINITIS PIGMENTOSA-12 AUTOSOMAL RECESSIVE,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,RETINITIS PUNCTATA ALBESCENS,RETINOBLASTOMA,RETINOPATHY OF PREMATURITY,Retinoschisis,RETINOSCHISIS 1 X-LINKED JUVENILE,Rett Syndrome,Rett syndrome congenital variant,RETT SYNDROME: RTT,Revesz syndrome,Reynolds syndrome,RFT1-CDG,RFVT2-related riboflavin transporter deficiency,RFVT3-related riboflavin transporter deficiency,Rh deficiency syndrome,RH-NULL AMORPH TYPE,RH-NULL REGULATOR TYPE,Rhabdoid predisposition syndrome 1,Rhabdoid Tumor Predisposition Syndrome,RHABDOID TUMOR PREDISPOSITION SYNDROME 1,Rhabdoid tumor predisposition syndrome 2,Rhabdomyolysis susceptibility to 1,Rhabdomyosarcoma,RHABDOMYOSARCOMA 2,RHABDOMYOSARCOMA EMBRYONAL 1,Rhabdomyosarcoma embryonal 2,Rheumatoid arthritis,RHEUMATOID ARTHRITIS SYSTEMIC JUVENILE,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,Rhizomelic chondrodysplasia punctata type 1,Rhizomelic chondrodysplasia punctata type 2,Rhizomelic chondrodysplasia punctata type 3,RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5,RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES,RHIZOMELIC SKELETAL DYSPLASIA WITH OR WITHOUT PELGER-HUET ANOMALY,RHYNS syndrome,RIBOFLAVIN DEFICIENCY,Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.,RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY,Ribose-5-P isomerase deficiency,Richieri Costa-Pereira syndrome,RICHIERI-COSTA-PEREIRA SYNDROME,rickets vitamin D-dependent type 2A,RIDDLE syndrome,RIEGER ANOMALY,RIGHT ATRIAL ISOMERISM,Right sided atrial isomerism,Rigid spine syndrome,RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME LETHAL NEONATAL,RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease,RIN2 syndrome,RING DERMOID OF CORNEA,RIPPLING MUSCLE DISEASE,RIPPLING MUSCLE DISEASE 2,RIT1-related Noonan syndrome,RITSCHER-SCHINZEL SYNDROME 1,Ritscher-schinzel syndrome 2,RITSCHER-SCHINZEL SYNDROME 3,RNF125-related intellectual disability and macrocephaly,RNF13-related severe early-onset epileptic encephalopathy,RNPC3-associated growth hormone deficiency and short stature,RNU12-related CDAGS syndrome,ROBERTS SYNDROME,Roberts-SC phocomelia syndrome,ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES,ROBINOW SYNDROME AUTOSOMAL DOMINANT 1,ROBINOW SYNDROME AUTOSOMAL DOMINANT 2,ROBINOW SYNDROME AUTOSOMAL DOMINANT 3,ROBINOW SYNDROME AUTOSOMAL RECESSIVE 1,ROBINOW SYNDROME AUTOSOMAL RECESSIVE 2,ROBINOW-SORAUF SYNDROME,Rod-cone dystrophy,Rod-cone dystrophy sensorineural deafness and Fanconi-type renal dysfunction,ROIFMAN SYNDROME,ROIFMAN-CHITAYAT SYNDROME,Rolandic epilepsy,ROLANDIC EPILEPSY IMPAIRED INTELLECTUAL DEVELOPMENT AND SPEECH DYSPRAXIA X-LINKED,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,Rolandic epilepsy-speech dyspraxia syndrome,Romano-Ward syndrome,RORB-epilepsy and neurodevelopmental disorder,ROSAH syndrome,ROTHMUND-THOMSON SYNDROME,Rothmund-Thomson Syndrome Type 1,Rothmund-Thomson syndrome type 2,Rotor syndrome,ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA,Roussy-Levy syndrome,RPS19-Related Diamond-Blackfan Anemia,RRM1-related mitochondrial DNA depletion/deletions syndrome,RUBINSTEIN-TAYBI SYNDROME 1,RUBINSTEIN-TAYBI SYNDROME 2,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,Rubinstein-Taybi syndrome due to CREBBP mutations,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,RUBINSTEIN-TAYBI SYNDROME TYPE 1,RUBINSTEIN-TAYBI SYNDROME TYPE 2,RUIJS-AALFS SYNDROME,RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability,RYR2-related CPVT,S-adenosylhomocysteine hydrolase deficiency,Saccharopinuria,Sacral agenesis with vertebral anomalies,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,SACRAL DEFECT WITH ANTERIOR MENINGOCELE,SAETHRE-CHOTZEN SYNDROME,Saldino-Mainzer syndrome,SALIVARY GLAND ADENOMA PLEOMORPHIC,Salivary Gland Carcinoma ex Pleomorphic Adenoma,salivary gland squamous cell carcinoma,SALLA DISEASE,SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME,SAMD9L-associated autoinflammatory syndrome,SANDESTIG-STEFANOVA SYNDROME,SANDHOFF DISEASE,Sandhoff disease adult form,Sandhoff disease infantile form,Sandhoff disease juvenile form,Sanfilippo syndrome type A,Sanfilippo syndrome type B,Sanfilippo syndrome type C,Sanfilippo syndrome type D,Sanjad-Sakati syndrome,Sarcoidosis,Sarcoidosis early onset,SARCOIDOSIS SUSCEPTIBILITY TO 1,SARCOIDOSIS SUSCEPTIBILITY TO 2,Sarcoma,SARCOMA SYNOVIAL,Sarcomatoid Carcinoma,Sarcomatoid Mesothelioma,SARCOSINEMIA,SARS1-related neurodevelopmental disorder with microcephaly ataxia and seizures,SARS2-related hyperuricemia pulmonary hypertension renal failure and alkalosis,SATB1-related developmental disorder monoallelic,SATB2-associated syndrome due to a chromosomal rearrangement,SATB2-associated syndrome due to a pathogenic variant,SAUL-WILSON SYNDROME,SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME,SBDS-related severe neonatal spondylometaphyseal dysplasia,SCA14,SCAF4-related Neurodevelopmental Disorder,Scalp-ear-nipple syndrome,SCAPHOCEPHALY MAXILLARY RETRUSION AND IMPAIRED INTELLECTUAL DEVELOPMENT,SCAPULOPERONEAL MYOPATHY X-LINKED DOMINANT,SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY,SCAPULOPERONEAL SYNDROME NEUROGENIC KAESER TYPE,SCHAAF-YANG SYNDROME,SCHEIE SYNDROME,Schilbach-Rott syndrome,Schimke immuno-osseous dysplasia,SCHIMKE IMMUNOOSSEOUS DYSPLASIA,SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME,SCHINDLER DISEASE TYPE I,Schinzel-Giedion midface retraction syndrome,Schinzel-Giedion syndrome,Schizencephaly,Schizophrenia,Schizophrenia 15,SCHIZOPHRENIA 18,SCHIZOPHRENIA 19,SCHIZOPHRENIA 4,SCHIZOPHRENIA 6,SCHIZOPHRENIA 9,SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA,SCHNECKENBECKEN DYSPLASIA,SCHNYDER CORNEAL DYSTROPHY,Schopf-Schulz-Passarge syndrome,Schuurs-hoeijmakers syndrome,schwannoma,Schwannomatosis,SCHWANNOMATOSIS 1,Schwannomatosis 2,Schwartz-Jampel syndrome,Schwartz-Jampel syndrome type 1,Schyder corneal dystrophy,SCLEROSING CHOLANGITIS NEONATAL,SCLEROSTEOSIS,SCLEROSTEOSIS 1,SCLEROSTEOSIS 2,SCN1A-Related Seizure Disorders,SCN5A-related BrS,SCN5A-related LQTS,SCNM1-associated orofaciodigital syndrome,SCOTT SYNDROME,SCUBE3-related developmental disorder,SEA-BLUE HISTIOCYTE DISEASE,Sea-blue histiocytosis,sebaceous adenocarcinoma,Sebocystomatosis,Seborrhea-like dermatitis with psoriasiform elements,seborrheic keratosis,Seckel syndrome,SECKEL SYNDROME 1,SECKEL SYNDROME 10,SECKEL SYNDROME 2,SECKEL SYNDROME 4,SECKEL SYNDROME 5,SECKEL SYNDROME 6,SECKEL SYNDROME 7,Seckel syndrome 8,Seckel syndrome 9,SECKEL SYNDROME TYPE 1,Secretory Meningioma,SEDOHEPTULOKINASE DEFICIENCY,Segawa syndrome autosomal recessive,Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,SEIZURES BENIGN FAMILIAL INFANTILE 2,SEIZURES BENIGN FAMILIAL INFANTILE 3,SEIZURES BENIGN FAMILIAL INFANTILE 5,SEIZURES BENIGN FAMILIAL NEONATAL 1,SEIZURES BENIGN FAMILIAL NEONATAL 2,Seizures cortical blindness and microcephaly syndrome,SEIZURES EARLY-ONSET WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS,SEIZURES SCOLIOSIS AND MACROCEPHALY/MICROCEPHALY SYNDROME,SEIZURES SENSORINEURAL DEAFNESS ATAXIA IMPAIRED INTELLECTUAL DEVELOPMENT AND ELECTROLYTE IMBALANCE,Seizures-scoliosis-macrocephaly syndrome,SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-INTELLECTUAL DEVELOPMENTAL DISORDER-ELECTROLYTE IMBALANCE,SELENON-related myopathy,Self-improving collodion baby,Self-improving dystrophic epidermolysis bullosa,SEMA3A-related skeletal dysplasia,SEMA6B-related neurodevelopmental disorder,Semantic dementia,Semilobar holoprosencephaly,Sengers syndrome,Senior-Boichis syndrome,Senior-Loken syndrome,SENIOR-LOKEN SYNDROME 1,SENIOR-LOKEN SYNDROME 4,SENIOR-LOKEN SYNDROME 5,SENIOR-LOKEN SYNDROME 6,SENIOR-LOKEN SYNDROME 7,SENIOR-LOKEN SYNDROME 8,Senior-Loken syndrome 9,Sensorineural deafness with dilated cardiomyopathy,Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies,SENSORY ATAXIC NEUROPATHY DYSARTHRIA AND OPHTHALMOPARESIS,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,Septo-optic dysplasia spectrum,SEPTOOPTIC DYSPLASIA,Septopreoptic holoprosencephaly,SERKAL SYNDROME,SERPIN PEPTIDASE INHIBITOR CLADE A MEMBER 2 PSEUDOGENE,Serrated polyposis syndrome,SESSILE SERRATED POLYPOSIS CANCER SYNDROME,SET syndrome,SETD1B associated intellectual disability epilepsy and autism,SETD2-associated Overgrowth Syndrome Luscan-Lumish syndrome,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,SETLEIS SYNDROME,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Severe Asphyxiating Thoracic Dysplasia,Severe autosomal dominant nocturnal frontal lobe epilepsy,Severe autosomal recessive macrothrombocytopenia,Severe Canavan disease,Severe Cobblestone Lissencephaly,Severe Combined Immune Deficiency Autosomal Recessive T Cell-Negative B Cell -Positive NK Cell-Negative JAK3-Related,SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T CELL-NEGATIVE B CELL-NEGATIVE NK CELL-NEGATIVE DUE TO ADENOSINE DEAMINASE DEFICIENCY,SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T CELL-NEGATIVE B CELL-NEGATIVE NK CELL-POSITIVE,Severe combined immunodeficiency autosomal recessive T cell-negative B cell-positive NK cell-negative,Severe combined immunodeficiency due to adenosine deaminase deficiency,Severe combined immunodeficiency due to CARD11 deficiency,Severe combined immunodeficiency due to complete RAG1/2 deficiency,Severe combined immunodeficiency due to CORO1A deficiency,Severe combined immunodeficiency due to CTPS1 deficiency,Severe combined immunodeficiency due to DCLRE1C deficiency,Severe combined immunodeficiency due to DNA-PKcs deficiency,Severe combined immunodeficiency due to FOXN1 deficiency,Severe combined immunodeficiency due to IKK2 deficiency,Severe combined immunodeficiency due to LAT deficiency,Severe combined immunodeficiency due to LCK deficiency,SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY GROWTH RETARDATION AND SENSITIVITY TO IONIZING RADIATION,SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION,SEVERE COMBINED IMMUNODEFICIENCY X-LINKED,Severe congenital hypochromic anemia with ringed sideroblasts,Severe congenital nemaline myopathy,Severe congenital neutropenia,SEVERE CUTANEOUS ADVERSE REACTION SUSCEPTIBILITY TO TOXIC EPIDERMAL NECROLYSIS SUSCEPTIBILITY TO INCLUDED,severe dermatitis multiple allergies and metabolic wasting,Severe dermatitis-multiple allergies-metabolic wasting syndrome,Severe early-childhood-onset retinal dystrophy,Severe early-onset axonal neuropathy due to MFN2 deficiency,Severe early-onset encephalopathy with progressive microcephaly,SEVERE EARLY-ONSET EPILEPSY,Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers,Severe generalized junctional epidermolysis bullosa,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,Severe Growth Retardation Spine Malformations and Developmental Delays,Severe hemophilia A,Severe hemophilia B,Severe hereditary thrombophilia due to congenital protein C deficiency,Severe hereditary thrombophilia due to congenital protein S deficiency,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,Severe ID with neuronal migration disorder,Severe Infantile Syndromic Encephalopathy,Severe Infantile-Onset Encephalopathy,Severe intellectual disability and progressive spastic paraplegia,Severe intellectual disability epilepsy and cataracts,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome,Severe intellectual disability-progressive spastic diplegia syndrome,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,Severe microcephaly and short stature,Severe microcephaly short stature and intellectual disability,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,Severe myopia-generalized joint laxity-short stature syndrome,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,Severe Neonatal- Childhood- or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies,Severe neonatal-onset encephalopathy with microcephaly,Severe neurodegenerative syndrome with lipodystrophy,Severe Neurodevelopmental Disability Hypotonia and Seizures,Severe Neurodevelopmental Disease with Seizures,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,Severe Neurodevelopmental Syndrome,Severe obesity with neurobehavioral features,Severe phosphoribosylpyrophosphate synthetase superactivity,Severe primary trimethylaminuria,Severe pseudo-TORCH syndrome,Severe syndromic form of thoracic aortic aneurysm and dissection,Severe X-linked mitochondrial encephalomyopathy,Sex Hormone-Producing Adrenal Cortex Adenoma,SEX REVERSAL TYPE 3,Sezary syndrome,SHAHEEN SYNDROME,SHASHI-PENA SYNDROME,Sheldon-Hall syndrome,SHMT2-related neurodevelopmental syndrome,Short chain acyl-CoA dehydrogenase deficiency,SHORT QT SYNDROME 1,SHORT QT SYNDROME 2,SHORT QT SYNDROME 3,SHORT QT SYNDROME 7,Short rib-polydactyly syndorme type II,Short rib-polydactyly syndrome Beemer-Langer type,Short rib-polydactyly syndrome Majewski type,Short rib-polydactyly syndrome Saldino-Noonan type,Short rib-polydactyly syndrome type 5,Short rib-polydactyly syndrome Verma-Naumoff type,SHORT SLEEP FAMILIAL NATURAL 1,SHORT SLEEP FAMILIAL NATURAL 2,SHORT STATURE AMELOGENESIS IMPERFECTA AND SKELETAL DYSPLASIA WITH SCOLIOSIS,Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans,SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES,SHORT STATURE AUDITORY CANAL ATRESIA MANDIBULAR HYPOPLASIA AND SKELETAL ABNORMALITIES,SHORT STATURE BRACHYDACTYLY IMPAIRED INTELLECTUAL DEVELOPMENT AND SEIZURES,SHORT STATURE DAUBER-ARGENTE TYPE,Short Stature Developmental Delay and Congenital Heart Defects,Short stature due to GHSR deficiency,Short stature due to growth hormone qualitative anomaly,Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,Short stature due to partial GHR deficiency,Short stature due to primary acid-labile subunit deficiency,SHORT STATURE FACIAL DYSMORPHISM AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1,SHORT STATURE FACIAL DYSMORPHISM AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2,SHORT STATURE HEARING LOSS RETINITIS PIGMENTOSA AND DISTINCTIVE FACIES,Short stature idiopathic X-linked,Short stature impaired intellectual development microcephaly hypotonia and ocular anomalies,SHORT STATURE MICROCEPHALY AND ENDOCRINE DYSFUNCTION,SHORT STATURE OLIGODONTIA DYSMORPHIC FACIES AND MOTOR DELAY,Short stature onychodysplasia facial dysmorphism and hypotrichosis,SHORT STATURE OPTIC NERVE ATROPHY AND PELGER-HUET ANOMALY,Short stature palatal anomalies congenital heart disease and skeletal malformations,SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES,SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES,Short stature-advanced bone age-early onset osteoarthritis syndrome,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,Short stature-brachydactyly-obesity-global developmental delay syndrome,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,SHORT STATURE-MICROGNATHIA SYNDROME,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,Short stature-optic atrophy-Pelger-Huet anomaly syndrome,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,SHORT syndrome,Short-Rib Polydactyly,SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY,Short-rib thoracic dysplasia 3 with or without polydactyly,Short-rib thoracic dysplasia 4 with or without polydactyly,SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY,SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY,Shox-related short stature,Shprintzen-Goldberg craniosynostosis syndrome,SHPRINTZEN-GOLDBERG SYNDROME,SHUKLA-VERNON SYNDROME,SHWACHMAN-DIAMOND SYNDROME,SHWACHMAN-DIAMOND SYNDROME 1,SHWACHMAN-DIAMOND SYNDROME 2,SIAH1-associated neurodevelopmental disorder,Sialidosis,Sialidosis type 1,SIALURIA,Sick sinus syndrome 1,SICK SINUS SYNDROME 2,SICK SINUS SYNDROME 3 SUSCEPTIBILITY TO,SICK SINUS SYNDROME 4,SICKLE CELL ANEMIA,Sickle Cell Disease,Sickle cell-beta-thalassemia disease syndrome,Sickle cell-hemoglobin C disease syndrome,Sickle cell-hemoglobin D disease syndrome,Sickle cell-hemoglobin E disease syndrome,SIDDIQI SYNDROME,SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY PERIODIC FEVERS AND DEVELOPMENTAL DELAY,SIFRIM-HITZ-WEISS SYNDROME,signet ring cell carcinoma,Signet Ring Cell Gastric Adenocarcinoma,Silent pituitary adenoma,SILVER-RUSSELL SYNDROME 1,SILVER-RUSSELL SYNDROME 3,SILVER-RUSSELL SYNDROME 4,Silver-Russell syndrome 5,Silver-Russell syndrome due to 11p15 microduplication,Silver-Russell syndrome due to a point mutation,Silver-Russell syndrome due to an imprinting defect of 11p15,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,SIM1-related Prader-Willi-like syndrome,Simple Endometrial Hyperplasia,Simple Endometrial Hyperplasia with Atypia,Simpson-Golabi-Behmel syndrome,SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 1,Simpson-Golabi-Behmel syndrome type 2,SIN3A-related intellectual disability syndrome due to a point mutation,SIN3B-related syndromic intellectual disability and autism spectrum disorder,Singleton-Merten dysplasia,Singleton-Merten syndrome,SINGLETON-MERTEN SYNDROME 1,SINGLETON-MERTEN SYNDROME 2,Sinoatrial node dysfunction and deafness,Sinonasal Undifferentiated Carcinoma,Sinus Bradycardia and Cognitive Disability,SITOSTEROLEMIA,SITOSTEROLEMIA 1,SITOSTEROLEMIA 2,Situs ambiguus,Situs inversus totalis,SIX2-related frontonasal dysplasia,Sjogren-Larsson syndrome,SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER,Skeletal dysplasia with severe neurological disease,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,Skeletal Ewing sarcoma,SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS,skin appendage carcinoma,Skin Basosquamous Cell Carcinoma,skin carcinoma,SKIN CREASES CONGENITAL SYMMETRIC CIRCUMFERENTIAL 1,Skin creases congenital symmetric circumferential 2,Skin fragility Woolly Hair,SKIN FRAGILITY-WOOLLY HAIR SYNDROME,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,SKIN/HAIR/EYE PIGMENTATION VARIATION IN 1,SKIN/HAIR/EYE PIGMENTATION VARIATION IN 10,SKIN/HAIR/EYE PIGMENTATION VARIATION IN 11,SKIN/HAIR/EYE PIGMENTATION VARIATION IN 2,SKIN/HAIR/EYE PIGMENTATION VARIATION IN 3,SKIN/HAIR/EYE PIGMENTATION VARIATION IN 5,SKIN/HAIR/EYE PIGMENTATION VARIATION IN 6,SKIN/HAIR/EYE PIGMENTATION VARIATION IN 7,Skin/hair/eye pigmentation variation in 8,SKIN/HAIR/EYE PIGMENTATION VARIATION IN 9,SKRABAN-DEARDORFF SYNDROME,SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome,SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome,SLC12A5-related epilepsy of infancy with migrating focal seizures,SLC13A1-associated hypersulfaturia and hyposulfatemia,SLC1A4-related Spastic tetraplegia thin corpus callosum and progressive microcephaly,SLC22A5-related primary systemic carnitine deficiency,SLC25A1-related Neurometabolic Disorder,SLC25A4-related Mitochondrial disease,SLC25A42-associated metabolic crises recurrent with variable encephalomyopathic features and neurologic regression,SLC30A7-associated Joubert syndrome,SLC31A1-associated congenital copper transport disorder,SLC32A1-associated developmental and epileptic encephalopathy,SLC35A1-CDG,SLC35A2-CDG,SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy,SLC37A4-related congenital disorder of glycosylation with liver dysfunction,SLC38A3-associated epileptic encephalopathy.,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,SLC39A8-CDG,SLC40A1-related hemochromatosis,SLC4A11-related corneal endothelial dystrophy with or without deafness,SLC4A3-related SQTS,SLC5A6-related Neurodevelopmental Disorder,SLF2-related developmental disorder,SLIRP-related mitochondrial encephalomyopathy,SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3,SLOWED NERVE CONDUCTION VELOCITY AUTOSOMAL DOMINANT,SMAD3-Related Loeys-Dietz Syndrome,Small cell cancer of the lung,small cell carcinoma,Small cell carcinoma of the ovary,Small cell lung cancer,Small cell lung carcinoma,Small Intestinal Diffuse Large B-Cell Lymphoma,Small Intestinal Tubulovillous Adenoma,SMALL PATELLA SYNDROME,SMARCA2-related blepharophimosis-intellectual disability syndrome,SMARCA4-deficient sarcoma of thorax,SMC1A-related Epileptic Encephalopathy,SMC5-related developmental disorder,SMG8-related Developmental Disorder,SMG9 Multiple Congenital Anomaly Syndrome,SMITH-KINGSMORE SYNDROME,SMITH-LEMLI-OPITZ SYNDROME,SMITH-MAGENIS SYNDROME,SMITH-MCCORT DYSPLASIA,SMITH-MCCORT DYSPLASIA 1,SMITH-MCCORT DYSPLASIA 2,SMO-related developmental disorder,SMOKING AS A QUANTITATIVE TRAIT LOCUS 3,Smoldering systemic mastocytosis,smooth muscle tumor,SNEDDON SYNDROME,SNIJDERS BLOK-CAMPEAU SYNDROME,SNIJDERS BLOK-FISHER SYNDROME,SNOWFLAKE VITREORETINAL DEGENERATION,SNYDER-ROBINSON SYNDROME,Sodium channelopathy-related small fiber neuropathy,SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1,SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY,soft tissue sarcoma,Solitary fibrous tumor,SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR,SOLUBLE INTERLEUKIN-6 RECEPTOR SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS,SOLUTE CARRIER FAMILY 4 ANION EXCHANGER MEMBER 1,SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY,SORSBY FUNDUS DYSTROPHY,Sorsby pseudoinflammatory fundus dystrophy,SOS-2 associated Noonan syndrome,SOTOS SYNDROME,Southeast Asian ovalocytosis,SOX11-related neurodevelopmental disorder,SOX6-related neurodevelopmental syndrome,SPAST-related developmental disorder monoallelic,SPASTIC ATAXIA 1 AUTOSOMAL DOMINANT,SPASTIC ATAXIA 2 AUTOSOMAL RECESSIVE,SPASTIC ATAXIA 3 AUTOSOMAL RECESSIVE,SPASTIC ATAXIA 4 AUTOSOMAL RECESSIVE,SPASTIC ATAXIA 5 AUTOSOMAL RECESSIVE,SPASTIC ATAXIA 8 AUTOSOMAL RECESSIVE WITH HYPOMYELINATING LEUKODYSTROPHY,SPASTIC ATAXIA 9 AUTOSOMAL RECESSIVE,SPASTIC ATAXIA CHARLEVOIX-SAGUENAY TYPE,Spastic ataxia-dysarthria due to glutaminase deficiency,SPASTIC PARALYSIS INFANTILE-ONSET ASCENDING,SPASTIC PARAPLEGIA 10 AUTOSOMAL DOMINANT,Spastic Paraplegia 11,Spastic paraplegia 11 autosomal recessive,SPASTIC PARAPLEGIA 12 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 13 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 15 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 17 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 18 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 2 X-LINKED,SPASTIC PARAPLEGIA 20 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 23 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 26 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 28 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 3 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 30 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 31 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 33 AUTOSOMAL DOMINANT,Spastic paraplegia 35 autosomal recessive,SPASTIC PARAPLEGIA 35 AUTOSOMAL RECESSIVE WITH OR WITHOUT NEURODEGENERATION,SPASTIC PARAPLEGIA 39 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 4 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 42 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 43 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 44 AUTOSOMAL RECESSIVE,Spastic paraplegia 45 autosomal recessive,SPASTIC PARAPLEGIA 46 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 47 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 48 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 50 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 51 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 52 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 53 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 54 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 55 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 56 AUTOSOMAL RECESSIVE WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM,SPASTIC PARAPLEGIA 5A AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 6 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 61 AUTOSOMAL RECESSIVE,Spastic paraplegia 62 autosomal recessive,Spastic paraplegia 63 autosomal recessive,Spastic paraplegia 64 autosomal recessive,SPASTIC PARAPLEGIA 7 AUTOSOMAL RECESSIVE,Spastic paraplegia 70 autosomal recessive,Spastic paraplegia 72 autosomal recessive,SPASTIC PARAPLEGIA 73 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 74 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 75 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 76 AUTOSOMAL RECESSIVE,Spastic paraplegia 77 autosomal recessive,SPASTIC PARAPLEGIA 78 AUTOSOMAL RECESSIVE,Spastic paraplegia 79A autosomal dominant with ataxia,SPASTIC PARAPLEGIA 79B AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 8 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 80 AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 81 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 82 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 83 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 84 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 85 AUTOSOMAL RECESSIVE,Spastic paraplegia 86 autosomal recessive,SPASTIC PARAPLEGIA 87 AUTOSOMAL RECESSIVE,SPASTIC PARAPLEGIA 88 AUTOSOMAL DOMINANT,Spastic paraplegia 9 autosomal dominant,SPASTIC PARAPLEGIA 9A AUTOSOMAL DOMINANT,SPASTIC PARAPLEGIA 9B AUTOSOMAL RECESSIVE,Spastic paraplegia and psychomotor retardation with or without seizures,SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15,SPASTIC PARAPLEGIA INTELLECTUAL DISABILITY NYSTAGMUS AND OBESITY,Spastic paraplegia intellectual disability nystagmus and obesity;,SPASTIC PARAPLEGIA OPTIC ATROPHY AND NEUROPATHY,Spastic paraplegia type 2,Spastic paraplegia type 7,SPASTIC PARAPLEGIA X-LINKED TYPE 2,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,Spastic paraplegia-optic atrophy-neuropathy syndrome,Spastic paraplegia-Paget disease of bone syndrome,Spastic paraplegia-severe developmental delay-epilepsy syndrome,SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA PROGRESSIVE,SPASTIC TETRAPLEGIA THIN CORPUS CALLOSUM AND PROGRESSIVE MICROCEPHALY,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,Spasticity childhood-onset with hyperglycinemia,SPATA5L1-associated sensorineural hearing loss and intellectual disability,SPECC1L-related hypertelorism syndrome,SPECIFIC GRANULE DEFICIENCY 1,SPECIFIC GRANULE DEFICIENCY 2,SPECIFIC LANGUAGE IMPAIRMENT 5,Spectrin-associated autosomal recessive cerebellar ataxia,SPEECH-LANGUAGE DISORDER 1,SPEN-related developmental disorder monoallelic,SPERMATOGENIC FAILURE 1,SPERMATOGENIC FAILURE 10,SPERMATOGENIC FAILURE 11,SPERMATOGENIC FAILURE 12,Spermatogenic failure 13,Spermatogenic failure 14,Spermatogenic failure 15,SPERMATOGENIC FAILURE 16,SPERMATOGENIC FAILURE 17,SPERMATOGENIC FAILURE 18,SPERMATOGENIC FAILURE 19,Spermatogenic failure 2,SPERMATOGENIC FAILURE 20,SPERMATOGENIC FAILURE 21,SPERMATOGENIC FAILURE 22,SPERMATOGENIC FAILURE 23,SPERMATOGENIC FAILURE 24,SPERMATOGENIC FAILURE 25,SPERMATOGENIC FAILURE 26,SPERMATOGENIC FAILURE 27,SPERMATOGENIC FAILURE 28,SPERMATOGENIC FAILURE 29,Spermatogenic failure 3,SPERMATOGENIC FAILURE 30,SPERMATOGENIC FAILURE 31,SPERMATOGENIC FAILURE 32,SPERMATOGENIC FAILURE 33,SPERMATOGENIC FAILURE 34,SPERMATOGENIC FAILURE 35,SPERMATOGENIC FAILURE 36,SPERMATOGENIC FAILURE 37,SPERMATOGENIC FAILURE 38,SPERMATOGENIC FAILURE 39,SPERMATOGENIC FAILURE 4,SPERMATOGENIC FAILURE 40,SPERMATOGENIC FAILURE 41,SPERMATOGENIC FAILURE 42,SPERMATOGENIC FAILURE 43,SPERMATOGENIC FAILURE 44,SPERMATOGENIC FAILURE 45,SPERMATOGENIC FAILURE 46,SPERMATOGENIC FAILURE 47,SPERMATOGENIC FAILURE 48,SPERMATOGENIC FAILURE 49,SPERMATOGENIC FAILURE 5,SPERMATOGENIC FAILURE 50,SPERMATOGENIC FAILURE 51,SPERMATOGENIC FAILURE 52,SPERMATOGENIC FAILURE 53,SPERMATOGENIC FAILURE 54,SPERMATOGENIC FAILURE 55,SPERMATOGENIC FAILURE 56,SPERMATOGENIC FAILURE 57,SPERMATOGENIC FAILURE 58,SPERMATOGENIC FAILURE 59,SPERMATOGENIC FAILURE 6,Spermatogenic failure 60,Spermatogenic failure 61,Spermatogenic failure 62,Spermatogenic failure 63,SPERMATOGENIC FAILURE 64,Spermatogenic failure 65,SPERMATOGENIC FAILURE 66,SPERMATOGENIC FAILURE 67,SPERMATOGENIC FAILURE 68,SPERMATOGENIC FAILURE 69,SPERMATOGENIC FAILURE 7,SPERMATOGENIC FAILURE 70,SPERMATOGENIC FAILURE 71,SPERMATOGENIC FAILURE 72,SPERMATOGENIC FAILURE 73,Spermatogenic failure 74,Spermatogenic failure 75,SPERMATOGENIC FAILURE 76,Spermatogenic failure 77,SPERMATOGENIC FAILURE 78,Spermatogenic failure 79,Spermatogenic failure 8,Spermatogenic failure 80,Spermatogenic failure 81,Spermatogenic failure 82,SPERMATOGENIC FAILURE 83,SPERMATOGENIC FAILURE 9,SPERMATOGENIC FAILURE X-LINKED 2,SPERMATOGENIC FAILURE X-LINKED 3,SPERMATOGENIC FAILURE X-LINKED 4,Spermatogenic failure X-linked 5,Spermatogenic failure X-linked 6,SPERMATOGENIC FAILURE X-LINKED 7,SPERMATOGENIC FAILURE Y-LINKED 2,SPHEROCYTOSIS TYPE 1,SPHEROCYTOSIS TYPE 2,SPHEROCYTOSIS TYPE 3,SPHEROCYTOSIS TYPE 4,SPHEROCYTOSIS TYPE 5,Spheroid body myopathy,Spinal and Bulbar Muscular Atrophy,SPINAL AND BULBAR MUSCULAR ATROPHY X-LINKED 1,Spinal Cord Astrocytoma,Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy,SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 1,SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 2,SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 4,SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 5,Spinal muscular atrophy distal autosomal recessive 6,Spinal muscular atrophy distal X-linked 3,SPINAL MUSCULAR ATROPHY INFANTILE JAMES TYPE,Spinal muscular atrophy jokela type,SPINAL MUSCULAR ATROPHY LATE-ONSET FINKEL TYPE,SPINAL MUSCULAR ATROPHY LOWER EXTREMITY-PREDOMINANT 1 AUTOSOMAL DOMINANT,SPINAL MUSCULAR ATROPHY LOWER EXTREMITY-PREDOMINANT 2A CHILDHOOD ONSET AUTOSOMAL DOMINANT,SPINAL MUSCULAR ATROPHY LOWER EXTREMITY-PREDOMINANT 2B PRENATAL ONSET AUTOSOMAL DOMINANT,Spinal muscular atrophy lower extremity-predominant AD,SPINAL MUSCULAR ATROPHY TYPE I,SPINAL MUSCULAR ATROPHY TYPE II,SPINAL MUSCULAR ATROPHY TYPE III,SPINAL MUSCULAR ATROPHY TYPE IV,SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1,Spinal muscular atrophy with congenital bone fractures 2,SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY,Spinal Muscular Atrophy with Respiratory Distress 1,Spinal muscular atrophy with respiratory distress type 1,Spinal muscular atrophy with respiratory distress type 2,SPINAL MUSCULAR ATROPHY X-LINKED 2,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,Spindle Cell Melanoma,SPINOCEREBELLAR ATAXIA 1,SPINOCEREBELLAR ATAXIA 10,SPINOCEREBELLAR ATAXIA 11,SPINOCEREBELLAR ATAXIA 12,SPINOCEREBELLAR ATAXIA 13,SPINOCEREBELLAR ATAXIA 14,SPINOCEREBELLAR ATAXIA 15,SPINOCEREBELLAR ATAXIA 17,Spinocerebellar ataxia 19,SPINOCEREBELLAR ATAXIA 2,SPINOCEREBELLAR ATAXIA 21,SPINOCEREBELLAR ATAXIA 25,SPINOCEREBELLAR ATAXIA 26,SPINOCEREBELLAR ATAXIA 27A,SPINOCEREBELLAR ATAXIA 27B LATE-ONSET,SPINOCEREBELLAR ATAXIA 28,SPINOCEREBELLAR ATAXIA 29,Spinocerebellar ataxia 29 congenital nonprogressive,SPINOCEREBELLAR ATAXIA 31,SPINOCEREBELLAR ATAXIA 34,SPINOCEREBELLAR ATAXIA 35,SPINOCEREBELLAR ATAXIA 36,SPINOCEREBELLAR ATAXIA 37,Spinocerebellar ataxia 38,SPINOCEREBELLAR ATAXIA 40,Spinocerebellar ataxia 41,Spinocerebellar ataxia 42,SPINOCEREBELLAR ATAXIA 42 EARLY-ONSET SEVERE WITH NEURODEVELOPMENTAL DEFICITS,Spinocerebellar ataxia 43,SPINOCEREBELLAR ATAXIA 44,SPINOCEREBELLAR ATAXIA 45,SPINOCEREBELLAR ATAXIA 46,SPINOCEREBELLAR ATAXIA 47,SPINOCEREBELLAR ATAXIA 48,SPINOCEREBELLAR ATAXIA 49,SPINOCEREBELLAR ATAXIA 5,Spinocerebellar ataxia 50,SPINOCEREBELLAR ATAXIA 6,SPINOCEREBELLAR ATAXIA 7,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 10,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 11,Spinocerebellar ataxia autosomal recessive 12,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 13,Spinocerebellar ataxia autosomal recessive 14,Spinocerebellar ataxia autosomal recessive 15,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 16,Spinocerebellar ataxia autosomal recessive 17,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 18,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 20,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 21,Spinocerebellar ataxia autosomal recessive 22,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 23,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 24,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 25,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 26,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 27,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 28,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 29,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 30,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 31,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 32,Spinocerebellar ataxia autosomal recessive 33,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 4,Spinocerebellar ataxia autosomal recessive 7,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 8,Spinocerebellar ataxia autosomal recessive with axonal neuropathy 1,Spinocerebellar ataxia autosomal recessive with axonal neuropathy 2,SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE WITH AXONAL NEUROPATHY 3,Spinocerebellar ataxia type 1,Spinocerebellar ataxia type 10,Spinocerebellar ataxia type 11,Spinocerebellar ataxia type 12,Spinocerebellar ataxia type 13,Spinocerebellar ataxia type 14,Spinocerebellar ataxia type 15/16,Spinocerebellar ataxia type 17,Spinocerebellar ataxia type 18,Spinocerebellar ataxia type 19/22,Spinocerebellar ataxia type 2,Spinocerebellar ataxia type 21,Spinocerebellar ataxia type 23,Spinocerebellar ataxia type 25,Spinocerebellar ataxia type 26,Spinocerebellar ataxia type 27,Spinocerebellar ataxia type 28,Spinocerebellar ataxia type 29,Spinocerebellar ataxia type 31,Spinocerebellar ataxia type 34,Spinocerebellar ataxia type 35,Spinocerebellar ataxia type 36,Spinocerebellar ataxia type 37,Spinocerebellar ataxia type 38,Spinocerebellar ataxia type 4,Spinocerebellar ataxia type 40,Spinocerebellar ataxia type 41,Spinocerebellar ataxia type 42,Spinocerebellar ataxia type 43,Spinocerebellar ataxia type 44,Spinocerebellar ataxia type 45,Spinocerebellar ataxia type 46,Spinocerebellar ataxia type 48,Spinocerebellar ataxia type 49,Spinocerebellar ataxia type 5,Spinocerebellar ataxia type 6,Spinocerebellar ataxia type 7,Spinocerebellar ataxia type 8,Spinocerebellar ataxia with axonal neuropathy type 1,Spinocerebellar ataxia with axonal neuropathy type 2,SPINOCEREBELLAR ATAXIA WITH EPILEPSY,SPINOCEREBELLAR ATAXIA X-LINKED 1,Splenic Diffuse Large B-Cell Lymphoma,Splenic Mantle Cell Lymphoma,SPLIT HAND AND FOOT MALFORMATION,Split hand-split foot-deafness syndrome,SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY,Split-foot malformation-mesoaxial polydactyly syndrome,Split-hand/foot malformation 1,SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS AUTOSOMALRECESSIVE,SPLIT-HAND/FOOT MALFORMATION 4,SPLIT-HAND/FOOT MALFORMATION 6,SPLIT-HAND/FOOT MALFORMATION TYPE 3,SPLIT-HAND/FOOT MALFORMATION TYPE 6,SPONASTRIME dysplasia,SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA,Spondylo-ocular syndrome,SPONDYLOARTHROPATHY SUSCEPTIBILITY TO 1,Spondylocarpotarsal synostosis,SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME,SPONDYLOCOSTAL DYSOSTOSIS 1 AUTOSOMAL RECESSIVE,SPONDYLOCOSTAL DYSOSTOSIS 2 AUTOSOMAL RECESSIVE,SPONDYLOCOSTAL DYSOSTOSIS 3 AUTOSOMAL RECESSIVE,SPONDYLOCOSTAL DYSOSTOSIS 4 AUTOSOMAL RECESSIVE,Spondylocostal dysostosis 6 autosomal recessive,SPONDYLOCOSTAL DYSOSTOSIS TYPE 1,SPONDYLOCOSTAL DYSOSTOSIS TYPE 2,SPONDYLOCOSTAL DYSOSTOSIS TYPE 3,Spondylodysplastic Ehlers Danlos syndrome,Spondyloenchondrodysplasia,Spondyloenchondrodysplasia with immune dysregulation,SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE,SPONDYLOEPIMETAPHYSEAL DYSPLASIA BOROCHOWITZ-CORMIER-DAIRE TYPE,Spondyloepimetaphyseal dysplasia congenita Strudwick type,SPONDYLOEPIMETAPHYSEAL DYSPLASIA DI ROCCO TYPE,Spondyloepimetaphyseal dysplasia Faden-Alkuraya type,Spondyloepimetaphyseal dysplasia Genevieve type,SPONDYLOEPIMETAPHYSEAL DYSPLASIA ISIDOR-TOUTAIN TYPE,SPONDYLOEPIMETAPHYSEAL DYSPLASIA KRAKOW TYPE,Spondyloepimetaphyseal dysplasia matrilin-3 type,SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE,SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE,Spondyloepimetaphyseal dysplasia PAPSS2 type,SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHOHAT TYPE,SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE,SPONDYLOEPIMETAPHYSEAL DYSPLASIA SPONASTRIME TYPE,Spondyloepimetaphyseal dysplasia Strudwick type,SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION,Spondyloepimetaphyseal dysplasia with joint laxity Beighton type,Spondyloepimetaphyseal dysplasia with joint laxity EXOC6B type,Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type,SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1,SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 WITH OR WITHOUT FRACTURES,SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2,SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 3,Spondyloepimetaphyseal Dysplasia with Severe Short Stature,SPONDYLOEPIMETAPHYSEAL DYSPLASIA X-LINKED,Spondyloepimetaphyseal dysplasia X-linked with hypomyelinating leukodystrophy,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA,SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA biallelic all missense/in frame,Spondyloepiphyseal dysplasia Kimberley type,SPONDYLOEPIPHYSEAL DYSPLASIA KONDO-FU TYPE,Spondyloepiphyseal dysplasia Maroteaux type,Spondyloepiphyseal dysplasia Nishimura type,SPONDYLOEPIPHYSEAL DYSPLASIA SENSORINEURAL HEARING LOSS IMPAIRED INTELLECTUAL DEVELOPMENT AND LEBER CONGENITAL AMAUROSIS,Spondyloepiphyseal dysplasia stanescu type,SPONDYLOEPIPHYSEAL DYSPLASIA TARDA,SPONDYLOEPIPHYSEAL DYSPLASIA TARDA X-LINKED,SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY,SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS,Spondyloepiphyseal dysplasia with metatarsal shortening,SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA STRUDWICK TYPE,Spondylometaphyseal dysplasia 'corner fracture' type,Spondylometaphyseal dysplasia associated with corneal dystrophy and developmental delay SMDCD,Spondylometaphyseal dysplasia axial,SPONDYLOMETAPHYSEAL DYSPLASIA KOZLOWSKI TYPE,SPONDYLOMETAPHYSEAL DYSPLASIA MEGARBANE-DAGHER-MELKI TYPE,SPONDYLOMETAPHYSEAL DYSPLASIA PAGNAMENTA TYPE,Spondylometaphyseal dysplasia Schmidt type,Spondylometaphyseal dysplasia Sedaghatian type,Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy,SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY,Spondylometaphyseal Dysplasia with Corner Fractures,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,SPONDYLOOCULAR SYNDROME,SPONDYLOPERIPHERAL DYSPLASIA,Spondyloperipheral dysplasia-short ulna syndrome,SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES,SPOP-related Neurodevelopmental Disorder dominant negative,SPOP-related Neurodevelopmental Disorder gain of function,Sporadic pheochromocytoma/secreting paraganglioma,Sporadic porphyria cutanea tarda,SPRED2-related Noonan syndrome,SPRY1-associated craniosynostosis with inner ear and renal anomalies,SPTAN1-related neurodevelopmental disorder with epilepsy and spastic paraplegia,SPTBN1-related developmental disorder monoallelic,SQUALENE SYNTHASE DEFICIENCY,Squamous cell carcinoma,SQUAMOUS CELL CARCINOMA HEAD AND NECK,Squamous cell carcinoma of salivary glands,Squamous cell carcinoma of the esophagus,Squamous cell carcinoma of the hypopharynx,Squamous cell carcinoma of the larynx,Squamous cell carcinoma of the lip,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,Squamous cell carcinoma of the oral cavity,Squamous cell carcinoma of the oropharynx,squamous cell lung carcinoma,SRCAP-related Neurodevelopmental Disorder,SRD5A3-CDG,SRRM2-related developmental disorder monoallelic,SRSF1-related developmental disorder monoallelic,SSR4-CDG,STAC3-associated congenital myopathy and malignant hyperthermia,STAG1 syndromic intellectual disability,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,STAG2-related developmental delay with microcephaly and congenital anomalies,STANKIEWICZ-ISIDOR SYNDROME,Stapes ankylosis with broad thumbs and toes,STAR syndrome,STARGARDT DISEASE,STARGARDT DISEASE 1,STARGARDT DISEASE 3,STARGARDT DISEASE 4,STAT3-related early-onset multisystem autoimmune disease,STEATOCYSTOMA MULTIPLEX,Steel syndrome,Sterile multifocal osteomyelitis with periostitis and pustulosis,Stevens-Johnson syndrome,Stickler syndrome,Stickler syndrome type 1,STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR,Stickler syndrome type 2,STICKLER SYNDROME TYPE 3,STICKLER SYNDROME TYPE 4,STICKLER SYNDROME TYPE I,STICKLER SYNDROME TYPE I NONSYNDROMIC OCULAR,STICKLER SYNDROME TYPE II,STICKLER SYNDROME TYPE IV,Stickler syndrome type V,STICKLER SYNDROME TYPE VI,Stiff skin syndrome,Sting-associated vasculopathy infantile-onset,STING-associated vasculopathy with onset in infancy,stomach neoplasm,STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS,Stormorken syndrome,Stormorken-Sjaastad-Langslet syndrome,STRIATAL DEGENERATION AUTOSOMAL DOMINANT 1,Striatal degeneration autosomal dominant 2,Striate palmoplantar keratoderma,STRIATONIGRAL DEGENERATION CHILDHOOD-ONSET,STRIATONIGRAL DEGENERATION INFANTILE,STROKE ISCHEMIC,STROMME SYNDROME,STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS,STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME,STT3A-CDG,STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease,STT3B-CDG,Sturge-Weber syndrome,Stuttering familial persistent 1,Stuve-Wiedeman syndrome,Stuve-Wiedemann syndrome,Stuve-Wiedemann syndrome 1,Stuve-Wiedemann syndrome 2,STXBP1-related encephalopathy,Subcortical band heterotopia,SUBCORTICAL BAND HETEROTOPIA X-LINKED,SUBCUTANEOUS LIPODYSTROPHY DEAFNESS MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM,Subcutaneous panniculitis-like T-cell lymphoma,Submandibular Gland Adenoid Cystic Carcinoma,Submucosal cleft palate,Succinate-semialdehyde dehydrogenase deficiency,SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY,succinyl-CoA-3-ketoacid-CoA transferase deficiency,SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY,SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY,SUCRASE-ISOMALTASE DEFICIENCY CONGENITAL,Sudden arrhythmic cardiac death after infectious or alcohol trigger,SUDDEN CARDIAC FAILURE ALCOHOL-INDUCED,SUDDEN CARDIAC FAILURE INFANTILE,SUDDEN INFANT DEATH SYNDROME,SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME,Sudden infant death-dysgenesis of the testes syndrome,SUFU-related Joubert and congenital ocular motor apraxia,SULEIMAN-EL-HATTAB SYNDROME,Sulfatidosis Juvenile Austin Type,SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY,Sulfite oxidase deficiency,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,SULFITE OXIDASE DEFICIENCY ISOLATED,Superficial epidermolytic ichthyosis,SUPRANUCLEAR PALSY PROGRESSIVE 1,SUPRAVALVULAR AORTIC STENOSIS,SUPT16H-related neurodevelopmental disorder,SURF1-related Charcot-Marie-Tooth disease type 4,SURFACTANT METABOLISM DYSFUNCTION PULMONARY 1,SURFACTANT METABOLISM DYSFUNCTION PULMONARY 2,SURFACTANT METABOLISM DYSFUNCTION PULMONARY 3,SURFACTANT METABOLISM DYSFUNCTION PULMONARY 4,SURFACTANT METABOLISM DYSFUNCTION PULMONARY 5,SUSCEPTIBILITY TO AUTISM TYPE 16,SUSCEPTIBILITY TO AUTISM TYPE 17,SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2,Susceptibility to infection due to TYK2 deficiency,Susceptibility to localized juvenile periodontitis,Susceptibility to respiratory infections associated with CD8alpha chain mutation,Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,Sveinsson chorioretinal atrophy,SWEENEY-COX SYNDROME,Sweet syndrome,SYMPHALANGISM PROXIMAL 1A,SYMPHALANGISM PROXIMAL 1B,SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA,Symptomatic form of Coffin-Lowry syndrome in female carriers,Symptomatic form of fragile X syndrome in female carriers,Symptomatic form of HFE-related hemochromatosis,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,Synaptic congenital myasthenic syndromes,SYNCRIP-related developmental disorder monoallelic,SYNDACTYLY MESOAXIAL SYNOSTOTIC WITH PHALANGEAL REDUCTION,Syndactyly type 3,Syndactyly type 4,Syndactyly type 5,Syndactyly type 8,SYNDACTYLY TYPE III,SYNDACTYLY TYPE IV,SYNDACTYLY TYPE V,Syndactyly-telecanthus-anogenital and renal malformations syndrome,Syndromic congenital cataract,Syndromic congenital glaucoma,Syndromic congenital heart defects,Syndromic congenital sodium diarrhea,Syndromic diarrhea,Syndromic ID with severe microcephaly,Syndromic intellectual disability,Syndromic Intellectual Disability and Developmental Delay,Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders,Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease,Syndromic microphthalmia type 5,SYNDROMIC MR WITH ATAXIA DYSARTHRIA AND EPILEPSY,Syndromic multisystem autoimmune disease due to Itch deficiency,Syndromic Neurodevelopmental Disorder,Syndromic Neurodevelopmental Disorder with Corpus Collosum Axon Cardiac Ocular and Genital Defects,Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism,Syndromic neutropenia with Shwachman-Diamond-like features,Syndromic osteogenesis imperfecta,Syndromic recessive X-linked ichthyosis,Syndromic retinal dystrophy,Syndromic retinitis pigmentosa,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,syndromic X-linked intellectual disability,SYNGAP1-related developmental and epileptic encephalopathy,Synovial sarcoma,Synovitis granulomatous with uveitis and cranial neuropathy,SYNPOLYDACTYLY 1,SYNPOLYDACTYLY 2,SYNPOLYDACTYLY 3/3-PRIME/4 ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES,Synpolydactyly type 1,Synpolydactyly type 2,Syringocystadenoma Papilliferum,Systemic lupus erythematosus,SYSTEMIC LUPUS ERYTHEMATOSUS 16,SYSTEMIC LUPUS ERYTHEMATOSUS 17,SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 10,SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 2,SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 9,Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease,Systemic mastocytosis with associated hematologic neoplasm,Systemic primary carnitine deficiency,Systemic-onset juvenile idiopathic arthritis,SYT2-related congenital onset presynaptic myasthenic syndrome,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,T-B+ severe combined immunodeficiency due to CD45 deficiency,T-B+ severe combined immunodeficiency due to gamma chain deficiency,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,T-B+ severe combined immunodeficiency due to JAK3 deficiency,T-cell acute lymphoblastic leukemia,T-CELL IMMUNODEFICIENCY CONGENITAL ALOPECIA AND NAIL DYSTROPHY,T-cell immunodeficiency with epidermodysplasia verruciformis,T-cell large granular lymphocyte leukemia,T-CELL LYMPHOMA SUBCUTANEOUS PANNICULITIS-LIKE,T-CELL LYMPHOPENIA INFANTILE WITH OR WITHOUT NAIL DYSTROPHY AUTOSOMAL DOMINANT,TAF4-related neurodevelopmental disorder,TAF8-associated neurodevelopmental disorder,Takayasu arteritis,Takenouchi-Kosaki syndrome,Tall stature-intellectual disability-renal anomalies syndrome,Tall stature-long halluces-multiple extra-epiphyses syndrome,TANC2-related neurodevelopmental and psychiatric disorders,TANGIER DISEASE,TARP syndrome,TARSAL-CARPAL COALITION SYNDROME,TASP1-related neurodevelopmental disorder,Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY),Tatton-Brown-rahman syndrome,TAY-SACHS DISEASE,Tay-Sachs disease B variant adult form,Tay-Sachs disease B variant infantile form,Tay-Sachs disease B variant juvenile form,TAY-SACHS DISEASE B1 VARIANT,TBC1D2B-related neurodevelopmental disorder,TBCK-related intellectual disability syndrome,TCEAL1-related neurodevelopmental disorder,TCF12-related neurodevelopmental disorder with coronal craniosynostosis,TCF20 syndrome,TCF7L2-related developmental disorder monoallelic,TCR-alpha-beta-positive T-cell deficiency,Teebi hypertelorism syndrome 1,TEEBI HYPERTELORISM SYNDROME 2,TELANGIECTASIA HEREDITARY HEMORRHAGIC TYPE 1,TELANGIECTASIA HEREDITARY HEMORRHAGIC TYPE 2,TELANGIECTASIA HEREDITARY HEMORRHAGIC TYPE 5,Telangiectasia macularis eruptiva perstans,Telethonin-related  limb-girdle muscular dystrophy R7,TELO2 Syndromic Intellectual Disability Disorder,TELO2-related intellectual disability-neurodevelopmental disorder,Temperature-sensitive oculocutaneous albinism type 1,Temple barraister syndrome,Temple syndrome due to maternal uniparental disomy of chromosome 14,Temple syndrome due to paternal 14q32.2 hypomethylation,Temple syndrome due to paternal 14q32.2 microdeletion,TEMPLE-BARAITSER SYNDROME,Temtamy preaxial brachydactyly syndrome,Temtamy syndrome,Temtamy syndrome; coloboma hypoplastic corpus callosum and intellectual disability,TENORIO SYNDROME,Tenosynovial Giant Cell Tumor,TERCL-related CPVT,TERMINAL OSSEOUS DYSPLASIA,Terminal osseous dysplasia-pigmentary defects syndrome,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4,Tessier number 4 facial cleft,Tessier number 7 facial cleft,TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE,Testicular Choriocarcinoma,TESTICULAR GERM CELL TUMOR,testicular mixed germ cell tumor,testicular neoplasm,Testicular regression syndrome,Testicular Sclerosing Sertoli Cell Tumor,testicular seminoma,Testicular seminomatous germ cell tumor,Testicular Sertoli Cell Tumor,Testicular Teratoma,Testicular Yolk Sac Tumor,TET3 DNA Demethylation Disorder biallelic,TET3 DNA Demethylation Disorder monoallelic,Tetra-Amelia Syndrome,Tetra-amelia with lung agenesis,TETRAAMELIA SYNDROME 1,TETRAAMELIA SYNDROME 2,Tetraamelia-multiple malformations syndrome,Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,Tetralogy of Fallot,TFE3-related intellectual disability with pigmentary mosaicism,TFR2-related hemochromatosis,Thanatophoric dysplasia type 1,THANATOPHORIC DYSPLASIA TYPE 2,THANATOPHORIC DYSPLASIA TYPE I,THANATOPHORIC DYSPLASIA TYPE II,THAUVIN-ROBINET-FAIVRE SYNDROME,THG1L-associated cerebellar ataxia,THIAMINE METABOLISM DYSFUNCTION SYNDROME 2,THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE),THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE),THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 EPISODIC ENCEPHALOPATHY TYPE,Thiamine-responsive encephalopathy,Thiamine-responsive maple syrup urine disease,THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME,Thiel-Behnke corneal dystrophy,THIOPURINES POOR METABOLISM OF 1,THIOPURINES POOR METABOLISM OF 2,THIOUREA TASTING,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,Thomsen and Becker disease,THREE M SYNDROME 1,THREE M SYNDROME 2,Three M syndrome 3,THROMBOCYTHEMIA 1,THROMBOCYTHEMIA 2,THROMBOCYTHEMIA 3,Thrombocythemia with distal limb defects,THROMBOCYTOPENIA 1,THROMBOCYTOPENIA 2,THROMBOCYTOPENIA 3,Thrombocytopenia 4,Thrombocytopenia 5,THROMBOCYTOPENIA 7,Thrombocytopenia Absent Radius Syndrome,THROMBOCYTOPENIA ANEMIA AND MYELOFIBROSIS,THROMBOCYTOPENIA WITH BETA-THALASSEMIA X-LINKED,Thrombocytopenia with congenital dyserythropoietic anemia,THROMBOCYTOPENIA X-LINKED WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA,THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME,Thrombomodulin-related bleeding disorder,THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE,THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY,THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY AUTOSOMAL DOMINANT,THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY AUTOSOMAL RECESSIVE,THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY AUTOSOMAL DOMINANT,THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY AUTOSOMAL RECESSIVE,THROMBOPHILIA DUE TO THROMBIN DEFECT,Thrombophilia due to thrombomodulin defect,THROMBOPHILIA X-LINKED DUE TO FACTOR IX DEFECT,THROMBOPHILIA X-LINKED DUE TO FACTOR VIII DEFECT,THROMBOTIC THROMBOCYTOPENIC PURPURA HEREDITARY,THUMPD1 neurodevelopment disorder,Thymic Carcinoma,Thymic Squamous Cell Carcinoma,Thymic Undifferentiated Carcinoma,Thymoma,THYROID CANCER NONMEDULLARY 1,THYROID CANCER NONMEDULLARY 2,THYROID CANCER NONMEDULLARY 4,THYROID CANCER NONMEDULLARY 5,thyroid carcinoma,THYROID CARCINOMA FAMILIAL MEDULLARY,THYROID CARCINOMA HURTHLE CELL,THYROID DYSHORMONOGENESIS 1,THYROID DYSHORMONOGENESIS 2A,THYROID DYSHORMONOGENESIS 3,THYROID DYSHORMONOGENESIS 4,THYROID DYSHORMONOGENESIS 5,THYROID DYSHORMONOGENESIS 6,Thyroid ectopia,Thyroid Gland Diffuse Large B-Cell Lymphoma,Thyroid Gland Hyalinizing Trabecular Tumor,Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma,Thyroid Gland Mucoepidermoid Carcinoma,Thyroid Gland Oncocytic Follicular Carcinoma,THYROID HORMONE METABOLISM ABNORMAL,THYROID HORMONE METABOLISM ABNORMAL 1,THYROID HORMONE METABOLISM ABNORMAL 2,Thyroid Hormonogenesis Defect I,Thyroid hypoplasia,thyroid neoplasm,THYROID-STIMULATING HORMONE RECEPTOR,Thyrotoxic periodic paralysis,THYROTOXIC PERIODIC PARALYSIS SUSCEPTIBILITY TO 1,THYROTOXIC PERIODIC PARALYSIS SUSCEPTIBILITY TO 2,THYROTROPIN-RELEASING HORMONE DEFICIENCY,THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS,TIBIA HYPOPLASIA OR APLASIA OF WITH POLYDACTYLY,Tibial aplasia-ectrodactyly syndrome,Tibial hemimelia,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,Tibial muscular dystrophy,TIBIAL MUSCULAR DYSTROPHY TARDIVE,TIETZ ALBINISM-DEAFNESS SYNDROME,Tietz syndrome,TIMOTHY SYNDROME,Timothy syndrome type 1,Timothy syndrome type 2,Titin-related  limb-girdle muscular dystrophy R10,TKFC-related Cataracts and Multisystem Disease,TLK2 syndrome,TMEM106B related hypomyelinating leukodystrophy,TMEM147-related developmental disorder,TMEM163-related hypomyelinating leukodystrophy,TMEM165-CDG,TMEM199-CDG,TMEM218-associated ciliopathy,TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities,TMEM240-associated spinocerebellar ataxia and intellectual disability,TMEM251-related skeletal dysplasia,TMEM43-related  ARVC,TMEM63C-associated hereditary spastic paraplegia,TMEM70-related mitochondrial encephalo-cardio-myopathy,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,TN POLYAGGLUTINATION SYNDROME,TNNC1-related DCM,TNNI3-related HCM,TNNT2-related DCM,TNNT2-related HCM,TNNT3-associated congenital myopathy biallelic,TNP03-related  limb-girdle muscular dystrophy D2,TNPO2-related intellectual disability,TNRC6B-related neurodevelopmental disorder,TOBACCO ADDICTION SUSCEPTIBILITY TO,TOE SYNDACTYLY TELECANTHUS AND ANOGENITAL AND RENAL MALFORMATIONS,TOGARAM1-related ciliopathy,TOLCHIN-LE CAIGNEC SYNDROME,TONNE-KALSCHEUER SYNDROME,tonsil cancer,Tooth agenesis,TOOTH AGENESIS SELECTIVE 1,TOOTH AGENESIS SELECTIVE 10,TOOTH AGENESIS SELECTIVE 3,TOOTH AGENESIS SELECTIVE 4,Tooth agenesis selective 7,TOOTH AGENESIS SELECTIVE 8,TOOTH AGENESIS SELECTIVE 9,TOOTH AGENESIS SELECTIVE X-LINKED 1,tooth agenesis selective X-linked type 1,TOR1AIP1-related limb-girdle muscular dystrophy,Toriello-Carey syndrome,Toriello-Lacassie-Droste syndrome,Total early-onset cataract,TOWNES-BROCKS SYNDROME,TOWNES-BROCKS SYNDROME 1,TOWNES-BROCKS SYNDROME 2,TP73-related ciliary dyskinesia and lissencephaly,TPM1-related HCM,TPP2-related immune deficiency autoimmune disease and intellectual disability,TRA2B-associated neurodevelopmental syndrome,Traboulsi syndrome,Tracheal Carcinoma,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,TRANSALDOLASE DEFICIENCY,Transcobalamin deficiency,TRANSCOBALAMIN II DEFICIENCY,TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2,TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN,Transient familial neonatal hyperbilirubinemia,Transient Hypomyelination during Infancy,Transient infantile hypertriglyceridemia and hepatosteatosis,Transient myeloproliferative syndrome,Transient neonatal diabetes mellitus,Transient Neonatal Hyperparathyroidism,transitional cell carcinoma of kidney,Transketolase deficiency,TRAPPC10-associated intellectual disability,TRAPPC11-related  limb-girdle muscular dystrophy R18,TRAPPC2L-related Encephalopathy progressive early-onset with episodic rhabdomyolysis,TRDN-related CPVT,TRDN-related LQTS,TREACHER COLLINS SYNDROME 1,TREACHER COLLINS SYNDROME 2,TREACHER COLLINS SYNDROME 3,TREACHER COLLINS SYNDROME 4,TREACHER COLLINS SYNDROME TYPE 1,TREACHER COLLINS SYNDROME TYPE 2,Treacher-Collins syndrome,TREHALASE DEFICIENCY,TREMOR HEREDITARY ESSENTIAL 1,TREMOR HEREDITARY ESSENTIAL 4,Tremor hereditary essential 5,TREMOR HEREDITARY ESSENTIAL 6,Tremor-ataxia-central hypomyelination syndrome,Tricho-dento-osseous syndrome,TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1,TRICHOEPITHELIOMA MULTIPLE FAMILIAL 1,Trichohepatoenteric syndrome,TRICHOHEPATOENTERIC SYNDROME 1,TRICHOHEPATOENTERIC SYNDROME 2,Trichohepatoneurodevelopmental syndrome,Trichomegaly,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,Trichorhinophalangeal syndrome type 1,Trichorhinophalangeal syndrome type 2,TRICHORHINOPHALANGEAL SYNDROME TYPE I,TRICHORHINOPHALANGEAL SYNDROME TYPE III,Trichorhinopharangeal syndrome I,Trichorhinopharangeal syndrome II Langer-Giedon,Trichothiodystrophy,TRICHOTHIODYSTROPHY 1 PHOTOSENSITIVE,TRICHOTHIODYSTROPHY 2 PHOTOSENSITIVE,TRICHOTHIODYSTROPHY 3 PHOTOSENSITIVE,TRICHOTHIODYSTROPHY 4 NONPHOTOSENSITIVE,TRICHOTHIODYSTROPHY 5 NONPHOTOSENSITIVE,Trichothiodystrophy 6 nonphotosensitive,TRICHOTHIODYSTROPHY 7 NONPHOTOSENSITIVE,TRICHOTHIODYSTROPHY 8 NONPHOTOSENSITIVE,Trichothiodystrophy 9 nonphotosensitive,Trichothiodystrophy non photosensitive,trichothiodystrophy non-photosensitive type 1,TRICHOTHIODYSTROPHY PHOTOSENSITIVE,Trichotillomania,TRIGONOCEPHALY 1,TRIGONOCEPHALY 2,TRIM32-related  limb-girdle muscular dystrophy R8,TRIM8-related neurodevelopmental disorder,TRIMETHYLAMINURIA,TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME,TRIOSEPHOSPHATE ISOMERASE DEFICIENCY,TRIP12-related intellectual disability with/without autism spectrum disorder,TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY,TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME,Triple A syndrome,Trismus-pseudocamptodactyly syndrome,TRITANOPIA,tRNA isopentenyltransferase deficiency,TROPICAL CALCIFIC PANCREATITIS,Tropical pancreatitis,TRPC5-related neurodevelopmental disorder,TRPM3-related developmental disorder monoallelic,TRUNCUS ARTERIOSUS,TSH-secreting pituitary adenoma,TTC12-related Primary Ciliary Dyskinesia,TTC5-associated neurodevelopmental disorder,TTN-related DCM,Tuberculosis,Tuberous sclerosis 1,Tuberous sclerosis 2,Tuberous sclerosis complex,TUBEROUS SCLEROSIS TYPE 1,TUBEROUS SCLEROSIS TYPE 2,TUBEROUS SCLEROSIS-2,Tubular-Aggregate Myopathy,Tubulinopathy-associated dysgyria,TUBULOINTERSTITIAL KIDNEY DISEASE AUTOSOMAL DOMINANT 1,TUBULOINTERSTITIAL KIDNEY DISEASE AUTOSOMAL DOMINANT 2,TUBULOINTERSTITIAL KIDNEY DISEASE AUTOSOMAL DOMINANT 4,TUBULOINTERSTITIAL KIDNEY DISEASE AUTOSOMAL DOMINANT 5,Tufted angioma,Tumor necrosis factor receptor 1 associated periodic syndrome,TUMOR PREDISPOSITION SYNDROME,TUMOR PREDISPOSITION SYNDROME 1,Tumor predisposition syndrome 2,TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL 1,TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL 2,TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL 3,TUMORAL CALCINOSIS NORMOPHOSPHATEMIC FAMILIAL,Turcot syndrome with polyposis,TURNPENNY-FRY SYNDROME,TWINNING DIZYGOTICOVARIAN RESPONSE TO FSH STIMULATION INCLUDED,TYLOSIS WITH ESOPHAGEAL CANCER,TYPE 1 DIABETES MELLITUS,TYPE 1 DIABETES MELLITUS 10,TYPE 1 DIABETES MELLITUS 12,TYPE 1 DIABETES MELLITUS 2,TYPE 1 DIABETES MELLITUS 20,TYPE 1 DIABETES MELLITUS 22,TYPE 1 DIABETES MELLITUS 5,TYPE 2 DIABETES 5,TYPE 2 DIABETES MELLITUS,TYPE 2 DIABETES MELLITUS 1,Typical nemaline myopathy,Typical urticaria pigmentosa,Tyrosinemia type 1,Tyrosinemia type 2,Tyrosinemia type 3,TYROSINEMIA TYPE I,TYROSINEMIA TYPE II,TYROSINEMIA TYPE III,U2AF2-related developmental disorder monoallelic,UBAP2L-associated neurodevelopmental disorder,UBE2A-RELATED X-LINKED SYNDROMIC INTELLECTUAL DEVELOPMENTAL DISORDER,UBE4A-associated neurodevelopmental disorder,UFSP2-associated developmental delay and epilepsy,UGP2 Epileptic Encephalopathy,Ulcerative colitis,ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1,Ullrich congenital muscular dystrophy 2,Ulna and fibula absence of with severe limb deficiency,ULNAR-MAMMARY SYNDROME,UMOD-related autosomal dominant tubulointerstitial kidney disease,UNC45B-associated Progressive Myopathy with Eccentric Cores,Unclassified myelodysplastic syndrome,UNCOMBABLE HAIR SYNDROME,UNCOMBABLE HAIR SYNDROME 1,Uncombable hair syndrome 2,UNCOMBABLE HAIR SYNDROME 3,Undifferentiated Ovarian Carcinoma,Undifferentiated Pancreatic Carcinoma,undifferentiated pleomorphic sarcoma,Unilateral multicystic dysplastic kidney,Unspecified Neurodevelopmental Disorder,Unverricht-Lundborg disease,UPF1-related developmental disorder monoallelic,Ureter Carcinoma,URIC ACID CONCENTRATION SERUM QUANTITATIVE TRAIT LOCUS 1,URIC ACID CONCENTRATION SERUM QUANTITATIVE TRAIT LOCUS 4,Uridine 5-prime monophosphate hydrolase deficiency hemolytic anemia due to,URIDINE-CYTIDINEURIA,Uridine-responsive epileptic encephalopathy,UROCANASE DEFICIENCY,Urocanic aciduria,UROFACIAL SYNDROME,UROFACIAL SYNDROME 1,UROFACIAL SYNDROME 2,urothelial carcinoma,URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME,Usher syndrome,Usher syndrome type 1,Usher syndrome type 1B,Usher syndrome type 1C,USHER SYNDROME TYPE 1D,Usher syndrome type 1F,Usher syndrome type 1G,USHER SYNDROME TYPE 1J,USHER SYNDROME TYPE 1M,Usher syndrome type 2,Usher syndrome type 2A,Usher syndrome type 2C,Usher syndrome type 2D,Usher syndrome type 3,Usher syndrome type 3A,Usher syndrome type 3B,USHER SYNDROME TYPE I,USHER SYNDROME TYPE IC,USHER SYNDROME TYPE ID,USHER SYNDROME TYPE IF,USHER SYNDROME TYPE IG,USHER SYNDROME TYPE IIA,USHER SYNDROME TYPE IIC,Usher syndrome type IIC GPR98/PDZD7 digenic,USHER SYNDROME TYPE IID,USHER SYNDROME TYPE IIIA,USHER SYNDROME TYPE IIIB,USHER SYNDROME TYPE IJ,USHER SYNDROME TYPE IV,USMANI-RIAZUDDIN SYNDROME AUTOSOMAL DOMINANT,Usmani-Riazuddin syndrome autosomal recessive,USP18 deficiency,USP7-related developmental disorder monoallelic,Usual Ductal Breast Hyperplasia,Uterine Carcinosarcoma,uterine sarcoma,UV-sensitive syndrome,UV-SENSITIVE SYNDROME 1,UV-SENSITIVE SYNDROME 2,UV-SENSITIVE SYNDROME 3,Uveal coloboma-cleft lip and palate-intellectual disability,Uveal melanoma,VACTERL Association X-Linked with or without Hydrocephalus,VACTERL with hydrocephalus,VACTERL/VATER association,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,Van den Ende-Gupta syndrome,Van der Woude syndrome,VAN DER WOUDE SYNDROME 1,VAN DER WOUDE SYNDROME 2,VAN ESCH-ODRISCOLL SYNDROME,VAN MALDERGEM SYNDROME,VAN MALDERGEM SYNDROME 1,Van Maldergem syndrome 2,VANIN 1,Variable Neurodevelopmental Disorder,Variant ABeta2M amyloidosis,VARIEGATE PORPHYRIA,VAS DEFERENS CONGENITAL BILATERAL APLASIA OF,VAS DEFERENS CONGENITAL BILATERAL APLASIA OF X-LINKED,Vascular Ehlers-Danlos syndrome,Vascular Ehlers-Danlos-polymicrogyria syndrome,VASCULAR MALFORMATION PRIMARY INTRAOSSEOUS,vascular sarcoma,VASCULITIS AUTOINFLAMMATION IMMUNODEFICIENCY AND HEMATOLOGICDEFECTS SYNDROME,Vasculitis due to ADA2 deficiency,VASCULOPATHY RETINAL WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS,VCP-related developmental disorder monoallelic,Vein of Galen aneurysmal malformation,VELOCARDIOFACIAL SYNDROME,VENOUS MALFORMATIONS MULTIPLE CUTANEOUS AND MUCOSAL,Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,VENTRICULAR FIBRILLATION PAROXYSMAL FAMILIAL 1,VENTRICULAR FIBRILLATION PAROXYSMAL FAMILIAL 2,VENTRICULAR SEPTAL DEFECT 1,VENTRICULAR SEPTAL DEFECT 2,VENTRICULAR SEPTAL DEFECT 3,VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 1 WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY,VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 2,VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 3,VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 4,VENTRICULAR TACHYCARDIA FAMILIAL,VENTRICULOMEGALY AND ARTHROGRYPOSIS,Ventriculomegaly with cystic kidney disease,Ventriculomegaly-cystic kidney disease,Verheij syndrome,VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION,VERTEBRAL CARDIAC RENAL AND LIMB DEFECTS SYNDROME 1,VERTEBRAL CARDIAC RENAL AND LIMB DEFECTS SYNDROME 2,VERTEBRAL CARDIAC RENAL AND LIMB DEFECTS SYNDROME 3,VERTEBRAL CARDIAC TRACHEOESOPHAGEAL RENAL AND LIMB DEFECTS,VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES,VERTICAL TALUS CONGENITAL,VERVERI-BRADY SYNDROME,Very long chain acyl-CoA dehydrogenase deficiency,Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency,VESICOURETERAL REFLUX 2,VESICOURETERAL REFLUX 3,Vesicoureteral reflux 8,vesicoureteral reflux type 3,VEXAS SYNDROME,VIBRATORY URTICARIA,Vici syndrome,Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission,VISCERAL MYOPATHY 1,VISCERAL MYOPATHY 2,VISCERAL NEUROPATHY FAMILIAL 1 AUTOSOMAL RECESSIVE,VISCERAL NEUROPATHY FAMILIAL 2 AUTOSOMAL RECESSIVE,VISS SYNDROME,VISSERS-BODMER SYNDROME,VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI,VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1,Vitamin B12-responsive methylmalonic acidemia type cblA,Vitamin B12-responsive methylmalonic acidemia type cblB,Vitamin B12-responsive methylmalonic acidemia type cblDv2,Vitamin B12-unresponsive methylmalonic acidemia type mut-,Vitamin B12-unresponsive methylmalonic acidemia type mut0,VITAMIN D HYDROXYLATION-DEFICIENT RICKETS TYPE 1A,VITAMIN D HYDROXYLATION-DEFICIENT RICKETS TYPE 1B,VITAMIN D-DEPENDENT RICKETS TYPE 2A,VITAMIN D-DEPENDENT RICKETS TYPE 3,Vitamin E familial isolated deficiency of,VITAMIN K-DEPENDENT CLOTTING FACTORS COMBINED DEFICIENCY OF 1,VITAMIN K-DEPENDENT CLOTTING FACTORS COMBINED DEFICIENCY OF 2,Vitamin-B6-Dependent Epilepsy,Vitiligo-associated multiple autoimmune disease susceptibility 1,VITREORETINAL DEGENERATION SNOWFLAKE TYPE,VITREORETINOCHOROIDOPATHY,VITREORETINOPATHY EXUDATIVE TYPE 4,VITREORETINOPATHY NEOVASCULAR INFLAMMATORY,VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA,Vocal cord and pharyngeal distal myopathy,Vogt-Koyanagi-Harada disease,VOHWINKEL SYNDROME,VOHWINKEL SYNDROME VARIANT FORM,Von Hippel-Lindau disease,VON HIPPEL-LINDAU SYNDROME,von Willebrand disease type 1,VON WILLEBRAND DISEASE TYPE 2,Von Willebrand disease type 2A,Von Willebrand disease type 2B,von Willebrand disease type 2M,von Willebrand disease type 2N,von Willebrand disease type 3,VPS11-related autosomal recessive hypomyelinating leukodystrophy,VULTO-VAN SILFHOUT-DE VRIES SYNDROME,vulvar carcinoma,vulvar intraepithelial neoplasia,WAARDENBURG SYNDROME TYPE 1,Waardenburg syndrome type 2,WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM,WAARDENBURG SYNDROME TYPE 2A,WAARDENBURG SYNDROME TYPE 2E,Waardenburg syndrome type 2F,Waardenburg syndrome type 3,WAARDENBURG SYNDROME TYPE 4A,WAARDENBURG SYNDROME TYPE 4B,WAARDENBURG SYNDROME TYPE 4C,Waardenburg Syndrome Type I,Waardenburg syndrome type IID,Waardenburg syndrome type IV,Waardenburg syndrome type IV biallelic loss of function,Waardenburg-Shah syndrome,Waardenburg-Shah syndrome neurologic variant,Wagner disease,Wagner syndrome 1,WAGNER VITREORETINOPATHY,WAGR syndrome,WAISMAN SYNDROME,Waldenstrom macroglobulinemia,WALKER WARBERG SYNDROME,Walker-Warburg syndrome,WARBURG MICRO SYNDROME 1,WARBURG MICRO SYNDROME 2,WARBURG MICRO SYNDROME 3,Warburg micro syndrome 4,Warburg micro syndrome type 1,Warburg micro syndrome type 3,WARFARIN SENSITIVITY X-LINKED,WARS1-associated neurodevelopmental syndrome,WARS2-related combined oxidative phosphorylation defect,WARSAW BREAKAGE SYNDROME,Warts hypogammaglobulinaemia infections and myelokathexis syndrome,WASHC5-associated intellectual disability congenital cardiac malformation and Dandy-Walker malformation,WATSON SYNDROME,WDR11-associated intellectual disability and microcephaly,WDR45-RELATED NEURODEGENERATION WITH BRAIN IRON ACCUMULATION,WDR5-related neurodevelopmental disorder,Weaver syndrome,WEAVER SYNDROME 2,Weaver-like overgrowth syndrome,WEBB-DATTANI SYNDROME,Weill-Marchesani syndrome,WEILL-MARCHESANI SYNDROME 1,Weill-Marchesani syndrome 1 recessive,WEILL-MARCHESANI SYNDROME 2,WEILL-MARCHESANI SYNDROME 3,WEILL-MARCHESANI SYNDROME 4,WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT,Weill-Marchesani syndrome autosomal recessive,Weill-Marchesani-like syndrome,WEISS-KRUSZKA SYNDROME,WELANDER DISTAL MYOPATHY,Well-differentiated liposarcoma,Werner Syndrome,WEST NILE VIRUS SUSCEPTIBILITY TO,WEYERS ACROFACIAL DYSOSTOSIS,WHIM SYNDROME,WHIM SYNDROME 1,WHIM SYNDROME 2,Whipple disease,WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1,White sponge naevus,WHITE SPONGE NEVUS,WHITE SPONGE NEVUS 1,WHITE SPONGE NEVUS 2,WHITE-KERNOHAN SYNDROME,WHITE-SUTTON SYNDROME,Wieacker-Wolff syndrome,WIEACKER-WOLFF SYNDROME FEMALE-RESTRICTED,WIEDEMANN-RAUTENSTRAUCH SYNDROME,Wiedemann-Steiner syndrome,Williams syndrome,WILLIAMS-BEUREN SYNDROME,WILMS TUMOR 1,WILMS TUMOR 5,Wilms tumor 6,WILMS TUMOR ANIRIDIA GENITOURINARY ANOMALIES AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME,Wilms tumour,WILSON DISEASE,Wilson-Turner syndrome,Winchester syndrome,WISKOTT-ALDRICH SYNDROME,WISKOTT-ALDRICH SYNDROME 2,WITKOP SYNDROME,WNK3-related neurodevelopmental disorder,WNT5A-Related Robinow Syndrome Autosomal Dominant,WNT7A- associated skeletal malformations syndrome,WOLCOTT-RALLISON SYNDROME,Wolf-Hirschhorn syndrome,WOLFF-PARKINSON-WHITE SYNDROME,Wolfram syndrome,WOLFRAM SYNDROME 1,WOLFRAM SYNDROME 2,Wolfram syndrome type 2,Wolfram-like syndrome,WOLFRAM-LIKE SYNDROME AUTOSOMAL DOMINANT,WOLMAN DISEASE,WOODHOUSE-SAKATI SYNDROME,Woolly hair,WOOLLY HAIR AUTOSOMAL DOMINANT,WOOLLY HAIR AUTOSOMAL RECESSIVE 3,Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay,Woolly hair nevus,Woolly hair-palmoplantar keratoderma syndrome,WRINKLY SKIN SYNDROME,X INACTIVATION FAMILIAL SKEWED 1,X-linked adrenal hypoplasia congenita,X-linked agammaglobulinemia,X-linked Alport syndrome,X-linked Alport syndrome-diffuse leiomyomatosis,X-linked anophthalmia syndrome,X-linked central congenital hypothyroidism with late-onset testicular enlargement,X-linked centronuclear myopathy,X-linked cerebral adrenoleukodystrophy,X-linked Charcot-Marie-Tooth disease type 1,X-linked Charcot-Marie-Tooth disease type 4,X-linked Charcot-Marie-Tooth disease type 5,X-linked Charcot-Marie-Tooth disease type 6,X-linked cleft palate and ankyloglossia,X-linked complicated corpus callosum dysgenesis,X-linked complicated spastic paraplegia type 1,X-linked cone dysfunction syndrome with myopia,X-linked congenital generalized hypertrichosis,X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION,X-LINKED CREATINE DEFICIENCY SYNDROME,X-linked creatine transporter deficiency,X-linked distal spinal muscular atrophy type 3,X-linked dominant chondrodysplasia Chassaing-Lacombe type,X-linked dominant chondrodysplasia punctata,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,X-linked dystonia-parkinsonism,X-linked Ehlers-Danlos syndrome,X-linked Emery-Dreifuss muscular dystrophy,X-linked epilepsy-learning disabilities-behavior disorders syndrome,X-linked erythropoietic protoporphyria,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,X-linked hereditary sensory and autonomic neuropathy with deafness,X-linked hyper-IgM syndrome,X-linked hypohidrotic ectodermal dysplasia,X-Linked Hypophosphatemia,X-LINKED HYPOSPADIAS TYPE 2,X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia,X-linked intellectual disability Cabezas type,X-linked intellectual disability Cantagrel type,X-linked intellectual disability due to GRIA3 mutations,X-linked intellectual disability Golabi-Ito-Hall type,X-linked intellectual disability Hedera type,X-linked intellectual disability Najm type,X-linked intellectual disability Nascimento type,X-linked intellectual disability Porteous type,X-linked intellectual disability Siderius type,X-linked intellectual disability Snyder type,X-linked intellectual disability Stocco Dos Santos type,X-linked intellectual disability Sutherland-Haan type,X-linked intellectual disability Van Esch type,X-linked intellectual disability with isolated growth hormone deficiency,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,X-linked intellectual disability-cerebellar hypoplasia syndrome,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,X-linked intellectual disability-hypotonia-movement disorder syndrome,X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,X-linked intellectual disability-psychosis-macroorchidism syndrome,X-linked intellectual disability-short stature-overweight syndrome,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,X-linked lissencephaly with abnormal genitalia,X-linked lymphoproliferative disease due to SH2D1A deficiency,X-linked lymphoproliferative disease due to XIAP deficiency,X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,X-linked myopathy with excessive autophagy,X-linked myopathy with postural muscle atrophy,X-linked myotubular myopathy-abnormal genitalia syndrome,X-linked non progressive cerebellar ataxia,X-linked non-syndromic intellectual disability,X-linked osteoporosis with fractures,X-linked parkinsonism-spasticity syndrome,X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects,X-linked progressive cerebellar ataxia,X-linked recessive ocular albinism,X-linked reticulate pigmentary disorder,X-linked retinoschisis,X-linked scapuloperoneal muscular dystrophy,X-linked severe congenital neutropenia,X-linked severe syndromic thoracic aortic aneurysm and dissection,X-linked sideroblastic anemia,X-linked sideroblastic anemia and spinocerebellar ataxia,X-linked spasticity-intellectual disability-epilepsy syndrome,X-Linked Spondyloepimetaphyseal Dysplasia,X-linked thrombocytopenia with normal platelets,X-LINKED TRICHOTHIODYSTROPHY,Xanthinuria type I,Xanthinuria type II,Xeroderma pigmentosum,XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP A,XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B,XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP C,XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D,XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP E,XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP F,XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G,Xeroderma pigmentosum group A,XERODERMA PIGMENTOSUM GROUP B,Xeroderma pigmentosum group C,Xeroderma pigmentosum group D,XERODERMA PIGMENTOSUM GROUP E DDB-NEGATIVE SUBTYPE,Xeroderma pigmentosum group F,Xeroderma pigmentosum group G,Xeroderma pigmentosum group variant,Xeroderma pigmentosum variant,XERODERMA PIGMENTOSUM VARIANT TYPE,Xeroderma pigmentosum-Cockayne syndrome complex,XFE PROGEROID SYNDROME,Xia-Gibbs syndrome,XL Intellectual disability,Xq21 microdeletion syndrome,Xq25 microduplication syndrome,Xq27.3q28 duplication syndrome,XYLT1-CDG,YAO SYNDROME,YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME,Yoon-Bellen neurodevelopmental syndrome,YOU-HOOVER-FONG SYNDROME,Young adult-onset distal hereditary motor neuropathy,Young-onset Parkinson disease,YRDC-associated nephrotic syndrome and microcephaly,YT BLOOD GROUP ANTIGEN,YUNIS-VARON SYNDROME,ZAKI SYNDROME,ZBTB18 syndrome,ZBTB7A-associated developmental disorder,Zebra body myopathy,Zellweger Syndrome,ZFHX3-related developmental disorder monoallelic,ZFHX4-related developmental disorder monoallelic,ZFPM2-associated malformation syndrome,ZFYVE19-related congenital hepatic fibrosis sclerosing cholangiopathy and high-GGT cholestasis,Zimmermann-Laband syndrome,ZIMMERMANN-LABAND SYNDROME 1,ZIMMERMANN-LABAND SYNDROME 2,ZIMMERMANN-LABAND SYNDROME 3,ZINC DEFICIENCY TRANSIENT NEONATAL,ZINC FINGER PROTEIN 106,ZMYM2-related developmental disorder monoallelic,ZMYM3-related neurodevelopmental disorder,ZMYND8-related neurodevelopmental disorder,ZNF142-related neurodevelopmental disorder,ZNF148-related developmental disorder monoallelic,ZNF292-related developmental disorder monoallelic,ZNF407-related Neurodevelopmental Disorder,ZTTK SYNDROME,ZUNICH NEUROECTODERMAL SYNDROME,Zygodactyly type 3]		filters	list	=	hsapiens_gene_ensembl__phenotype__dm	description_20125
phenotype_source	Phenotype source	[Cancer Gene Census,G2P,MIM morbid,Orphanet]		filters	list	=	hsapiens_gene_ensembl__phenotype__dm	source_20125
go_parent_term	Parent term accession	[]		filters	list	=	pointer dataset	accession_305_r1
go_parent_name	Parent term name	[]		filters	text	=	pointer dataset	name_305_r1
go_evidence_code	GO Evidence code	[EXP,HDA,HEP,HMP,IBA,IC,IDA,IEA,IEP,IGI,IMP,IPI,ISA,ISM,ISO,ISS,NAS,ND,RCA,TAS]		filters	list	=,in	hsapiens_gene_ensembl__ontology_go__dm	linkage_type_1024
with_hsapiens_paralog	Paralogous Human Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	paralog_hsapiens_bool
with_cabingdonii_homolog	Orthologous Abingdon island giant tortoise Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cabingdonii_bool
with_scaustralis_homolog	Orthologous African ostrich Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_scaustralis_bool
with_mspretus_homolog	Orthologous Algerian mouse Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mspretus_bool
with_vpacos_homolog	Orthologous Alpaca Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_vpacos_bool
with_mmmarmota_homolog	Orthologous Alpine marmot Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mmmarmota_bool
with_pformosa_homolog	Orthologous Amazon molly Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pformosa_bool
with_bbbison_homolog	Orthologous American bison Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_bbbison_bool
with_uamericanus_homolog	Orthologous American black bear Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_uamericanus_bool
with_nvison_homolog	Orthologous American mink Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_nvison_bool
with_cdromedarius_homolog	Orthologous Arabian camel Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cdromedarius_bool
with_uparryii_homolog	Orthologous Arctic ground squirrel Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_uparryii_bool
with_smerianae_homolog	Orthologous Argentine black and white tegu Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_smerianae_bool
with_dnovemcinctus_homolog	Orthologous Armadillo Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_dnovemcinctus_bool
with_sformosus_homolog	Orthologous Asian bonytongue Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_sformosus_bool
with_gmorhua_homolog	Orthologous Atlantic cod Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_gmorhua_bool
with_charengus_homolog	Orthologous Atlantic herring Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_charengus_bool
with_ssalar_homolog	Orthologous Atlantic salmon Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ssalar_bool
with_cporosus_homolog	Orthologous Australian saltwater crocodile Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cporosus_bool
with_lbergylta_homolog	Orthologous Ballan wrasse Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_lbergylta_bool
with_lcalcarifer_homolog	Orthologous Barramundi perch Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_lcalcarifer_bool
with_dleucas_homolog	Orthologous Beluga whale Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_dleucas_bool
with_spartitus_homolog	Orthologous Bicolor damselfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_spartitus_bool
with_rbieti_homolog	Orthologous Black snub-nosed monkey Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_rbieti_bool
with_bmusculus_homolog	Orthologous Blue whale Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_bmusculus_bool
with_llaticaudata_homolog	Orthologous Blue-ringed sea krait Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_llaticaudata_bool
with_sbboliviensis_homolog	Orthologous Bolivian squirrel monkey Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_sbboliviensis_bool
with_ppaniscus_homolog	Orthologous Bonobo Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ppaniscus_bool
with_strutta_homolog	Orthologous Brown trout Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_strutta_bool
with_hburtoni_homolog	Orthologous Burton's mouthbrooder Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_hburtoni_bool
with_ogarnettii_homolog	Orthologous Bushbaby Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ogarnettii_bool
with_cintestinalis_homolog	Orthologous C.intestinalis Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cintestinalis_bool
with_csavignyi_homolog	Orthologous C.savignyi Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_csavignyi_bool
with_celegans_homolog	Orthologous Caenorhabditis elegans (Nematode, N2) Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_celegans_bool
with_fcatus_homolog	Orthologous Cat Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_fcatus_bool
with_cwagneri_homolog	Orthologous Chacoan peccary Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cwagneri_bool
with_cgobio_homolog	Orthologous Channel bull blenny Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cgobio_bool
with_ipunctatus_homolog	Orthologous Channel catfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ipunctatus_bool
with_ggallus_homolog	Orthologous Chicken Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ggallus_bool
with_ptroglodytes_homolog	Orthologous Chimpanzee Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ptroglodytes_bool
with_cgchok1gshd_homolog	Orthologous Chinese hamster CHOK1GS Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cgchok1gshd_bool
with_osinensis_homolog	Orthologous Chinese medaka Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_osinensis_bool
with_psinensis_homolog	Orthologous Chinese softshell turtle Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_psinensis_bool
with_otshawytscha_homolog	Orthologous Chinook salmon Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_otshawytscha_bool
with_atestudineus_homolog	Orthologous Climbing perch Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_atestudineus_bool
with_aocellaris_homolog	Orthologous Clown anemonefish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_aocellaris_bool
with_lchalumnae_homolog	Orthologous Coelacanth Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_lchalumnae_bool
with_okisutch_homolog	Orthologous Coho salmon Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_okisutch_bool
with_falbicollis_homolog	Orthologous Collared flycatcher Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_falbicollis_bool
with_scanaria_homolog	Orthologous Common canary Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_scanaria_bool
with_cccarpio_homolog	Orthologous Common carp Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cccarpio_bool
with_pmuralis_homolog	Orthologous Common wall lizard Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pmuralis_bool
with_vursinus_homolog	Orthologous Common wombat Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_vursinus_bool
with_pcoquereli_homolog	Orthologous Coquerel's sifaka Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pcoquereli_bool
with_btaurus_homolog	Orthologous Cow Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_btaurus_bool
with_mfascicularis_homolog	Orthologous Crab-eating macaque Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mfascicularis_bool
with_odegus_homolog	Orthologous Degu Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_odegus_bool
with_dclupeoides_homolog	Orthologous Denticle herring Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_dclupeoides_bool
with_cldingo_homolog	Orthologous Dingo Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cldingo_bool
with_clfamiliaris_homolog	Orthologous Dog Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_clfamiliaris_bool
with_ttruncatus_homolog	Orthologous Dolphin Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ttruncatus_bool
with_bgrunniens_homolog	Orthologous Domestic yak Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_bgrunniens_bool
with_easinus_homolog	Orthologous Donkey Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_easinus_bool
with_mleucophaeus_homolog	Orthologous Drill Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mleucophaeus_bool
with_dmelanogaster_homolog	Orthologous Drosophila melanogaster (Fruit fly) Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_dmelanogaster_bool
with_applatyrhynchos_homolog	Orthologous Duck Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_applatyrhynchos_bool
with_ptextilis_homolog	Orthologous Eastern brown snake Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ptextilis_bool
with_acalliptera_homolog	Orthologous Eastern happy Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_acalliptera_bool
with_eelectricus_homolog	Orthologous Electric eel Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_eelectricus_bool
with_lafricana_homolog	Orthologous Elephant Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_lafricana_bool
with_cmilii_homolog	Orthologous Elephant shark Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cmilii_bool
with_svulgaris_homolog	Orthologous Eurasian red squirrel Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_svulgaris_bool
with_dlabrax_homolog	Orthologous European seabass Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_dlabrax_bool
with_mpfuro_homolog	Orthologous Ferret Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mpfuro_bool
with_trubripes_homolog	Orthologous Fugu Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_trubripes_bool
with_amelanoleuca_homolog	Orthologous Giant panda Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_amelanoleuca_bool
with_nleucogenys_homolog	Orthologous Gibbon Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_nleucogenys_bool
with_saurata_homolog	Orthologous Gilthead seabream Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_saurata_bool
with_chircus_homolog	Orthologous Goat Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_chircus_bool
with_mauratus_homolog	Orthologous Golden Hamster Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mauratus_bool
with_acchrysaetos_homolog	Orthologous Golden eagle Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_acchrysaetos_bool
with_rroxellana_homolog	Orthologous Golden snub-nosed monkey Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_rroxellana_bool
with_cauratus_homolog	Orthologous Goldfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cauratus_bool
with_gevgoodei_homolog	Orthologous Goodes thornscrub tortoise Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_gevgoodei_bool
with_ggorilla_homolog	Orthologous Gorilla Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ggorilla_bool
with_pmajor_homolog	Orthologous Great Tit Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pmajor_bool
with_sdumerili_homolog	Orthologous Greater amberjack Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_sdumerili_bool
with_psimus_homolog	Orthologous Greater bamboo lemur Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_psimus_bool
with_rferrumequinum_homolog	Orthologous Greater horseshoe bat Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_rferrumequinum_bool
with_acarolinensis_homolog	Orthologous Green anole Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_acarolinensis_bool
with_cporcellus_homolog	Orthologous Guinea Pig Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cporcellus_bool
with_preticulata_homolog	Orthologous Guppy Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_preticulata_bool
with_eburgeri_homolog	Orthologous Hagfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_eburgeri_bool
with_eeuropaeus_homolog	Orthologous Hedgehog Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_eeuropaeus_bool
with_ecaballus_homolog	Orthologous Horse Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ecaballus_bool
with_hhucho_homolog	Orthologous Huchen Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_hhucho_bool
with_bihybrid_homolog	Orthologous Hybrid - Bos Indicus Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_bihybrid_bool
with_pcapensis_homolog	Orthologous Hyrax Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pcapensis_bool
with_nnaja_homolog	Orthologous Indian cobra Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_nnaja_bool
with_omelastigma_homolog	Orthologous Indian medaka Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_omelastigma_bool
with_olatipes_homolog	Orthologous Japanese medaka HdrR Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_olatipes_bool
with_cjaponica_homolog	Orthologous Japanese quail Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cjaponica_bool
with_ojavanicus_homolog	Orthologous Javanese ricefish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ojavanicus_bool
with_shabroptila_homolog	Orthologous Kakapo Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_shabroptila_bool
with_dordii_homolog	Orthologous Kangaroo rat Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_dordii_bool
with_pcinereus_homolog	Orthologous Koala Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pcinereus_bool
with_pmarinus_homolog	Orthologous Lamprey Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pmarinus_bool
with_lcrocea_homolog	Orthologous Large yellow croaker Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_lcrocea_bool
with_lleishanense_homolog	Orthologous Leishan spiny toad Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_lleishanense_bool
with_ppardus_homolog	Orthologous Leopard Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ppardus_bool
with_jjaculus_homolog	Orthologous Lesser Egyptian jerboa Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_jjaculus_bool
with_etelfairi_homolog	Orthologous Lesser hedgehog tenrec Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_etelfairi_bool
with_pleo_homolog	Orthologous Lion Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pleo_bool
with_clanigera_homolog	Orthologous Long-tailed chinchilla Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_clanigera_bool
with_clumpus_homolog	Orthologous Lumpfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_clumpus_bool
with_nbrichardi_homolog	Orthologous Lyretail cichlid Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_nbrichardi_bool
with_anancymaae_homolog	Orthologous Ma's night monkey Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_anancymaae_bool
with_mmulatta_homolog	Orthologous Macaque Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mmulatta_bool
with_nscutatus_homolog	Orthologous Mainland tiger snake Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_nscutatus_bool
with_pnyererei_homolog	Orthologous Makobe Island cichlid Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pnyererei_bool
with_kmarmoratus_homolog	Orthologous Mangrove rivulus Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_kmarmoratus_bool
with_gfortis_homolog	Orthologous Medium ground-finch Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_gfortis_bool
with_pvampyrus_homolog	Orthologous Megabat Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pvampyrus_bool
with_amexicanus_homolog	Orthologous Mexican tetra Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_amexicanus_bool
with_mlucifugus_homolog	Orthologous Microbat Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mlucifugus_bool
with_acitrinellus_homolog	Orthologous Midas cichlid Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_acitrinellus_bool
with_xcouchianus_homolog	Orthologous Monterrey platyfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_xcouchianus_bool
with_mmusculus_homolog	Orthologous Mouse Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mmusculus_bool
with_mmurinus_homolog	Orthologous Mouse Lemur Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mmurinus_bool
with_fheteroclitus_homolog	Orthologous Mummichog Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_fheteroclitus_bool
with_hgfemale_homolog	Orthologous Naked mole-rat female Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_hgfemale_bool
with_mmonoceros_homolog	Orthologous Narwhal Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mmonoceros_bool
with_oniloticus_homolog	Orthologous Nile tilapia Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_oniloticus_bool
with_pmbairdii_homolog	Orthologous Northern American deer mouse Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pmbairdii_bool
with_elucius_homolog	Orthologous Northern pike Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_elucius_bool
with_panubis_homolog	Orthologous Olive baboon Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_panubis_bool
with_mdomestica_homolog	Orthologous Opossum Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mdomestica_bool
with_apercula_homolog	Orthologous Orange clownfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_apercula_bool
with_cpbellii_homolog	Orthologous Painted turtle Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cpbellii_bool
with_cimitator_homolog	Orthologous Panamanian white-faced capuchin Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cimitator_bool
with_pkingsleyae_homolog	Orthologous Paramormyrops kingsleyae Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pkingsleyae_bool
with_sscrofa_homolog	Orthologous Pig Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_sscrofa_bool
with_mnemestrina_homolog	Orthologous Pig-tailed macaque Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mnemestrina_bool
with_oprinceps_homolog	Orthologous Pika Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_oprinceps_bool
with_slucioperca_homolog	Orthologous Pike-perch Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_slucioperca_bool
with_mmurdjan_homolog	Orthologous Pinecone soldierfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mmurdjan_bool
with_abrachyrhynchus_homolog	Orthologous Pink-footed goose Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_abrachyrhynchus_bool
with_xmaculatus_homolog	Orthologous Platyfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_xmaculatus_bool
with_oanatinus_homolog	Orthologous Platypus Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_oanatinus_bool
with_umaritimus_homolog	Orthologous Polar bear Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_umaritimus_bool
with_mochrogaster_homolog	Orthologous Prairie vole Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mochrogaster_bool
with_ocuniculus_homolog	Orthologous Rabbit Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ocuniculus_bool
with_omykiss_homolog	Orthologous Rainbow trout Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_omykiss_bool
with_rnorvegicus_homolog	Orthologous Rat Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_rnorvegicus_bool
with_vvulpes_homolog	Orthologous Red fox Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_vvulpes_bool
with_pnattereri_homolog	Orthologous Red-bellied piranha Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pnattereri_bool
with_ecalabaricus_homolog	Orthologous Reedfish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ecalabaricus_bool
with_mcaroli_homolog	Orthologous Ryukyu mouse Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mcaroli_bool
with_scerevisiae_homolog	Orthologous Saccharomyces cerevisiae Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_scerevisiae_bool
with_platipinna_homolog	Orthologous Sailfin molly Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_platipinna_bool
with_oarambouillet_homolog	Orthologous Sheep Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_oarambouillet_bool
with_cvariegatus_homolog	Orthologous Sheepshead minnow Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cvariegatus_bool
with_saraneus_homolog	Orthologous Shrew Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_saraneus_bool
with_mpahari_homolog	Orthologous Shrew mouse Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mpahari_bool
with_bsplendens_homolog	Orthologous Siamese fighting fish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_bsplendens_bool
with_mmoschiferus_homolog	Orthologous Siberian musk deer Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mmoschiferus_bool
with_choffmanni_homolog	Orthologous Sloth Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_choffmanni_bool
with_catys_homolog	Orthologous Sooty mangabey Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_catys_bool
with_pcatodon_homolog	Orthologous Sperm whale Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pcatodon_bool
with_apolyacanthus_homolog	Orthologous Spiny chromis Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_apolyacanthus_bool
with_loculatus_homolog	Orthologous Spotted gar Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_loculatus_bool
with_itridecemlineatus_homolog	Orthologous Squirrel Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_itridecemlineatus_bool
with_mspicilegus_homolog	Orthologous Steppe mouse Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mspicilegus_bool
with_gaculeatus_homolog	Orthologous Stickleback Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_gaculeatus_bool
with_pabelii_homolog	Orthologous Sumatran orangutan Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_pabelii_bool
with_csyrichta_homolog	Orthologous Tarsier Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_csyrichta_bool
with_sharrisii_homolog	Orthologous Tasmanian devil Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_sharrisii_bool
with_tnigroviridis_homolog	Orthologous Tetraodon Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_tnigroviridis_bool
with_tctriunguis_homolog	Orthologous Three-toed box turtle Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_tctriunguis_bool
with_ptaltaica_homolog	Orthologous Tiger Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ptaltaica_bool
with_hcomes_homolog	Orthologous Tiger tail seahorse Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_hcomes_bool
with_csemilaevis_homolog	Orthologous Tongue sole Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_csemilaevis_bool
with_tbelangeri_homolog	Orthologous Tree Shrew Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_tbelangeri_bool
with_xtropicalis_homolog	Orthologous Tropical clawed frog Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_xtropicalis_bool
with_spunctatus_homolog	Orthologous Tuatara Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_spunctatus_bool
with_smaximus_homolog	Orthologous Turbot Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_smaximus_bool
with_mgallopavo_homolog	Orthologous Turkey Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mgallopavo_bool
with_nfurzeri_homolog	Orthologous Turquoise killifish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_nfurzeri_bool
with_ngalili_homolog	Orthologous Upper Galilee mountains blind mole rat Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_ngalili_bool
with_psinus_homolog	Orthologous Vaquita Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_psinus_bool
with_csabaeus_homolog	Orthologous Vervet-AGM Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_csabaeus_bool
with_neugenii_homolog	Orthologous Wallaby Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_neugenii_bool
with_cjacchus_homolog	Orthologous White-tufted-ear marmoset Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_cjacchus_bool
with_bmutus_homolog	Orthologous Wild yak Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_bmutus_bool
with_chyarkandensis_homolog	Orthologous Yarkand deer Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_chyarkandensis_bool
with_sldorsalis_homolog	Orthologous Yellowtail amberjack Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_sldorsalis_bool
with_tguttata_homolog	Orthologous Zebra finch Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_tguttata_bool
with_mzebra_homolog	Orthologous Zebra mbuna Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_mzebra_bool
with_drerio_homolog	Orthologous Zebrafish Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_drerio_bool
with_marmatus_homolog	Orthologous Zig-zag eel Genes	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__gene__main	homolog_marmatus_bool
with_interpro	With Interpro ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	interpro_bool
with_alphafold	With AFDB-ENSP mappings	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_alphafold_bool
with_cdd	With CDD ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_cdd_bool
with_gene3d	With Gene3D ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_gene3d_bool
with_hamap	With HAMAP ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_hamap_bool
with_mobidblite	With MobiDB lite	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_mobidblite_bool
with_ncbifam	With NCBIFAM ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_ncbifam_bool
with_ncoils	With Coiled-coils (Ncoils)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_ncoils_bool
with_hmmpanther	With PANTHER ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_hmmpanther_bool
with_pfam	With Pfam ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_pfam_bool
with_pirsf	With PIRSF ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_pirsf_bool
with_prints	With Prints ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_prints_bool
with_scanprosite	With PROSITE patterns ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_scanprosite_bool
with_pfscan	With PROSITE profiles ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_pfscan_bool
with_seg	With Low complexity (Seg)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_seg_bool
with_sfld	With SFLD ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_sfld_bool
with_sifts_import	With PDB-ENSP mappings	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_sifts_import_bool
with_signalp	With Cleavage site (Signalp)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_signalp_bool
with_smart	With SMART ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_smart_bool
with_superfamily	With Superfamily ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_superfamily_bool
with_tigrfam	With TIGRFAM ID(s)	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_tigrfam_bool
with_tmhmm	With Transmembrane helices	[]		filters	boolean_list	only,excluded	hsapiens_gene_ensembl__translation__main	protein_feature_tmhmm_bool
interpro	Interpro ID(s) [e.g. IPR000001]	[]	Filter to include genes with supplied list of Interpro	filters	id_list	=,in	hsapiens_gene_ensembl__interpro__dm	interpro_ac_1026
cdd	CDD ID(s) [e.g. cd00009]	[]	Filter to include genes with supplied list of CDD ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_cdd__dm	hit_name_1048
gene3d	Gene3D ID(s) [e.g. 1.10.10.10]	[]	Filter to include genes with supplied list of Gene3D ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_gene3d__dm	hit_name_1048
hamap	HAMAP ID(s) [e.g. MF_00001]	[]	Filter to include genes with supplied list of HAMAP ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_hamap__dm	hit_name_1048
ncbifam	NCBIFAM ID(s) [e.g. NF033379]	[]	Filter to include genes with supplied list of NCBIFAM ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_ncbifam__dm	hit_name_1048
hmmpanther	PANTHER ID(s) [e.g. PTHR10003]	[]	Filter to include genes with supplied list of PANTHER ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_hmmpanther__dm	hit_name_1048
pfam	Pfam ID(s) [e.g. PF00001]	[]	Filter to include genes with supplied list of Pfam ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_pfam__dm	hit_name_1048
pirsf	PIRSF ID(s) [e.g. PIRSF000019]	[]	Filter to include genes with supplied list of PIRSF ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_pirsf__dm	hit_name_1048
prints	Prints ID(s) [e.g. PR00001]	[]	Filter to include genes with supplied list of Prints ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_prints__dm	hit_name_1048
scanprosite	PROSITE patterns ID(s) [e.g. PS00010]	[]	Filter to include genes with supplied list of PROSITE patterns ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_scanprosite__dm	hit_name_1048
pfscan	PROSITE profiles ID(s) [e.g. PS01031]	[]	Filter to include genes with supplied list of PROSITE profiles ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_pfscan__dm	hit_name_1048
sfld	SFLD ID(s) [e.g. SFLDF00002]	[]	Filter to include genes with supplied list of SFLD ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_sfld__dm	hit_name_1048
smart	SMART ID(s) [e.g. SM00002]	[]	Filter to include genes with supplied list of SMART ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_smart__dm	hit_name_1048
superfamily	Superfamily ID(s) [e.g. SSF100879]	[]	Filter to include genes with supplied list of Superfamily ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_superfamily__dm	hit_name_1048
tigrfam	TIGRFAM ID(s) [e.g. TIGR01131]	[]	Filter to include genes with supplied list of TIGRFAM ID(s)	filters	id_list	=,in	hsapiens_gene_ensembl__protein_feature_tigrfam__dm	hit_name_1048
germ_line_variation_source	limit to genes with germline variant data sources	[ClinVar,dbSNP]		filters	list	=	hsapiens_gene_ensembl__mart_transcript_variation__dm	name_2021
somatic_variation_source	limit to genes with somatic variant sources	[COSMIC,HGMD-PUBLIC]		filters	list	=	hsapiens_gene_ensembl__mart_transcript_variation_som__dm	name_2021
with_validated_snp	Variant supporting evidence	[only,excluded]	Entries associated with variants that have been validated	filters	boolean	only,excluded	hsapiens_gene_ensembl__mart_transcript_variation__dm	evidence_2025
so_mini_parent_name	Parent term name	[3_prime_UTR_variant,5_prime_UTR_variant,coding_sequence_variant,coding_transcript_variant,downstream_gene_variant,exon_variant,feature_ablation,feature_amplification,feature_elongation,feature_truncation,feature_variant,frameshift_variant,gene_variant,incomplete_terminal_codon_variant,inframe_deletion,inframe_indel,inframe_insertion,inframe_variant,intergenic_variant,internal_feature_elongation,intron_variant,mature_miRNA_variant,missense_variant,NMD_transcript_variant,nonsynonymous_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant,protein_altering_variant,sequence_comparison,sequence_variant,splice_acceptor_variant,splice_donor_variant,splice_region_variant,splice_site_variant,splicing_variant,start_lost,stop_gained,stop_lost,stop_retained_variant,structural_variant,synonymous_variant,terminator_codon_variant,transcript_ablation,transcript_amplification,transcript_variant,upstream_gene_variant,UTR_variant]		filters	list	=	pointer dataset	name_305_r1

