All diseases

17 entries on 1 page. Showing entries 1 - 17.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00855 CRPT2 Carpenter syndrome, type 2 (CRPT-2) 614976 AR - - MEGF8 - -
02901 GAN2 neuropathy, axonal, giant, type 2,, autosomal dominant 610100 AD - - DCAF8 - -
00495 HEMA hemophilia A (HEMA) 306700 XLR 8376 8375 F8 - -
03180 HH6 hypogonadotropic hypogonadism, type 6 with/without anosmia (HH6) 612702 AD - - FGF8 - -
06141 HYDM4 Hydatidiform mole, recurrent, 4 618432 AR - - C11orf80 - -
00139 ID intellectual disability (ID) - - 2351 2050 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
03779 IMD32A immunodeficiency, type 32A (IMD-32A) 614893 AD - - IRF8 - -
03780 IMD32B immunodeficiency, type 32B (IMD-32B) 614894 - - - IRF8 - -
06286 IMD32B Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive 226990 AR - - IRF8 - -
05895 INF infertility - - 8 8 C14orf39, C9orf84 - -
00038 LS Leigh syndrome (LS) 256000 AR;Mi 66 57 BCS1L, C17orf89, COX10, COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
06388 MC1DN34 Mi complex I deficiency, nuclear type 34 618776 AR - - C17orf89 - -
05452 MC3DN mitochondrial complex III deficiency, nuclear (MC3DN)] - - 4 4 BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ - -
04387 MC3DN9 mitochondrial complex III deficiency?, nuclear, type 9 (MC3DN-9) 616111 AR - - C11orf83 - -
01115 MRX45 mental retardation, X-linked, type 45 (MRX45) 300498 - - - ZNF81 - -
01066 MRXSSD mental retardation syndrome, X-linked, Siderius type (MRXSSD) 300263 XLR - - PHF8 - X-linked
02282 RP13 retinitis pigmentosa, type 13 (RP13) 600059 AD - - PRPF8 - -
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