All diseases

86 entries on 1 page. Showing entries 1 - 86.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01870 - Iminoglycinuria, digenic 242600 AR;DR - - SLC36A2, SLC6A19, SLC6A20 - -
02041 - anemia, hemolytic , due to uridine 5-prime monophosphate hydrolase deficiency 266120 AR - - NT5C3 - -
02727 - Mycobacterium tuberculosis, susceptibility to 607948 - - - CCL2, CD209, CISH, IFNG, IFNGR1, IRGM, MC3R, SLC11A1, SP110, TIRAP, TLR2 - -
02941 - Testicular microlithiasis 610441 - - - SLC34A2 - -
03520 - apolipoprotein C-III deficiency (hyperalphalipoproteinemia, type 2 (HALP-2)) 614028 - 4 4 APOC3 - -
04447 ACPHD ataxia?, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) 616192 AR - - DNAJC3 - -
01621 AEZ acrodermatitis enteropathica, Zinc deficiency (AEZ) 201100 AR 8 8 SLC39A4 - -
03207 AHUS5 hemolyticuremic syndrome, atypical, susceptibility type 5 (AHUS5) 612925 AD - - C3 - -
04004 AMRS arthrogryposis, mental retardation, and seizures (AMRS) 615553 AR - - SLC35A3 - -
06603 ANXD3 Anauxetic dysplasia 3 618853 AR - - C3orf17 - -
03023 ARMD9 macular degeneration, age-related, type 9 611378 - - - C3 - -
06627 BILAPES ?Birk-Landau-Perez syndrome 617595 AR - - SLC30A9 - -
02407 BMIQ9 body mass index quantitative trait locus 9 (BMIQ-9) 602025 - - - MC3R - -
03429 C3D complement component 3 deficiency, autosomal recessive (C3D) 613779 AR 17 16 C3 - -
00683 cancer, breast cancer, breast, susceptibility 114480 - 8104 787 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
03660 CCHLND cataracts, congenital, hearing loss, and neurodegeneration (CCHLND) 614482 AR 1 - SLC33A1 - -
05461 CDG glycosylation, congenital disorder of (CDG) - - 86 82 CAMLG, DHRSX, EDEM3, MAN2C1, MOGS, NUS1, SLC39A8, STT3A, STT3B, UGGT1 - -
02046 CDG2C;LAD2 glycosylation, congenital disorder of, type IIc 266265 AR - - SLC35C1 - -
02461 CDG2F glycosylation, congenital disorder of, type IIf (CDG-2F) 603585 AR - - SLC35A1 - -
02199 CDG2M glycosylation, congenital disorder of, type IIm (CDG-2M) 300896 SMo;XLD 28 - SLC35A2 - -
05919 CDG2N glycosylation, congenital disorder of, type IIn (CDG2N) 616721 AR - - SLC39A8 - -
04281 CDLS Cornelia de Lange syndrome (CDLS) - - 525 499 HDAC8, NIPBL, SMC1A, SMC3 - -
00670 CDLS3 Cornelia de Lange syndrome, type 3 (CDLS-3) 610759 AD - - SMC3 - cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalities; cardiac defects; limb reductions; hearing loss; no skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects
00332 CILD dyskinesia, ciliary, primary (CILD) - - 219 211 C21orf59, CCDC164, CCDC39, DNAAF3, DNAH1, DNAH5, HEATR2, HYDIN, TTC12 - -
00027 CILD14 dyskinesia, ciliary, primary, type 14 (CILD-14) 613807 - 9 - CCDC39 - -
01226 CMH4 cardiomyopathy, hypertrophic, familial, type 4 (CMH-4) 115197 AD;AR 1 1 MYBPC3 - -
03499 CMM6 melanoma, cutaneous, malignant, susceptibility to, type 6 (CMM-6) 613972 - - - XRCC3 - -
01739 CSNU cystinuria (CSNU) 220100 AD;AR 14 11 SLC3A1, SLC7A9 - -
07108 DCIDP deafness, cataract, impaired intellectual development, polyneuropathy 619354 AR - - PSMC3 - -
02398 DFNB15 deafness, autosomal recessive, type 15 (DFNB-15) 601869 AR 4 4 GIPC3 - -
00169 EDS Ehlers-Danlos syndrome (EDS) - - 1800 241 ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB - -
03127 EDSSPD3 Ehlers-Danlos syndrome, spondylodysplastic, type 3 612350 AR - - SLC39A13 - -
00910 FRTS2 Fanconi renotubular syndrome, type 2 (FRTS-2) 613388 AR 1 - SLC34A1 - -
00293 FVH2 hypoplasia, foveal, type 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR 60 52 SLC38A8 - -
04216 GSD storage disease, glycogen (GSD) - - 133 132 GAA, PHKA2, SLC37A4 - -
01820 GSD1B glycogen storage disease, type Ib (GSD1B) 232220 AR 37 2 SLC37A4 - -
01821 GSD1C glycogen storage disease, type IC (GSD1C) 232240 AR 2 - SLC37A4 - -
05700 HCIN hyperostosis cranialis interna (HCIN) 144755 AD 1 1 SLC39A14 - -
05195 HCINF2 hypercalcemia, infantile, type 2 (HCINF-2) 616963 AR 17 17 SLC34A1 - -
07097 HDAC3-NDD HDAC3-related NDD - IC - - HDAC3 - intellectual disability (HP:0001249),neurodevelopmental delay (HP:0012758), abnormality of the musculoskele tal system (HP:0033127), seizure (HP:0001250), abnormal facial shape (HP:0001999), brain imaging abnormality (HP:0410263), abnormality of the genitourinary system (HP:0000119), microcephaly (HP:0000252), hearing impairment (HP:0000365), failure to thrive (HP:0001508), abnormal heart morphology (HP:0001627), autistic behavior (HP:0000729)
03744 HH10 hypogonadism, hypogonadotropic, type 10 with/without anosmia (HH-10) 614839 AR - - TAC3 - -
01868 HHRH hypophosphatemic rickets with hypercalciuria 241530 AR - - SLC34A3 - -
03298 HMNDYT1 Hypermanganesemia with dystonia 1 613280 AR 15 15 SLC30A10 - -
05698 HMNDYT2 hypermanganesemia with dystonia, type 2 (HMNDYT2) 617013 AR 1 1 SLC39A14 - -
02238 HTX1 heterotaxy, visceral, X-linked, type 1, (HTX-1, situs inversus/situs ambiguus) 306955 XLR 36 36 ZIC3 - -
00016 HYDM2 mole, hydatidiform, recurrent, type 2 (HYDM-2) 614293 AR 1 2 KHDC3L - -
01350 hyperglycinuria hyperglycinuria 138500 AD - - SLC36A2, SLC6A19, SLC6A20 - -
03256 HYPTSV hypotrichosis and recurrent skin vesicles 613102 AR 3 3 DSC3 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06040 IGHD5 ?Growth hormone deficiency, isolated, type V 618160 AR - - RNPC3 - -
00201 INFM infertility, male (INFM) - - 261 225 ACTL9, AKAP3, ARMC12, AURKC, C12orf55, CCDC34, CFAP61, CXorf59, DNHD1, DPY19L2, FKBP6, M1AP, MAATS1, MNS1, MSH4, MSH5, SSX1 - -
05126 LGMD dystrophy, muscular, limb-girdle (LGMD) - - 7500 3655 POPDC3, TCAP, TRAPPC11 - -
06727 LGMDR26 dystrophy, muscular, limb-girdle, autosomal recessive, type 26 618848 AR 1 1 POPDC3 - -
02274 LHON Leber hereditary optic neuropathy 535000 AR;Mi 78 63 DNAJC30, MT-ND1 - -
06968 LHONAR Leber hereditary optic neuropathy, autosomal recessive autosomal recessive 619382 AR - - DNAJC30 - -
06175 LIS8 Lissencephaly 8 617255 AR - - TMTC3 - -
03924 LVNC10;CMD1MM ventricular noncompaction, left, type 10 (LVNC-10, cardiomyopathy, dilated, type 1MM (CMD-1MM)) 615396 AD 1 1 MYBPC3 - -
04456 MRT50 mental retardation?, autosomal recessive, type 50 (MRT-50) 616460 AR - - EDC3 - -
06232 MRT56 Mental retardation, autosomal recessive 56 617125 AR - - ZC3H14 - -
00800 MRT7 mental retardation, autosomal recessive, type 7 (MRT7) 611093 AR - - TUSC3 - -
05323 MYP myopia (MYP) - - 27 24 ARR3, CCDC66, SLC39A5, ZNF644 - -
04142 MYP24 myopia, type 24, autosomal dominant (MYP-24) 615946 AD - - SLC39A5 - -
00363 MYPBB myopathy, congenital, Baily-Bloch 255995 AR 2 2 STAC3 - -
05611 NDD neurodevelopmental disorder (NDD) - - 3539 3354 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 71 more - -
06382 NEDBAF Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 618577 AD 1 1 RAC3 - -
06644 NEDSOSB ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 AR - - SEC31A - -
00151 NIDDM diabetes mellitus, type II (NIDDM) 125853 AD 8 7 ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
00909 NPHLOP1 nephrolithiasis/osteoporosis, hypophosphatemic, type 1 (NPHLOP-1) 612286 AD - - SLC34A1 - -
03554 OCCM cortical malformations, occipital 614115 AR 4 4 LAMC3 - -
03605 ODG3 dysgenesis, ovarian, type 3 (ODG-3) 614324 AR - - PSMC3IP - -
03702 PCH1B hypoplasia, pontocerebellar, type 1b (PCH-1B) 614678 AR 14 14 EXOSC3 - -
02036 PULAM Pulmonary alveolar microlithiasis 265100 AR - - SLC34A2 - -
02537 SCA13 ataxia, spinocerebellar, type 13 (SCA-13) 605259 AD 1 1 KCNC3 - -
05043 SCA41 ataxia, spinocerebellar, type 41 (SCA-41) 616410 AD - - TRPC3 - -
00726 SCN4 neutropenia, severe congenital, type 4, autosomal recessive (SCN-4) 612541 AR 1 - G6PC3 - -
05262 SGBS Simpson-Golabi-Behmel syndrome (SGBS) - - 59 59 GPC3 - -
00773 SGBS1 Simpson-Golabi-Behmel syndrome, type 1 (SGBS1) 312870 XLR 1 1 GPC3 - -
02065 SHNKND dysplasia, Schneckenbecken 269250 AR - - SLC35D1 - -
03149 SPG42 paraplegia, spastic, type 42, autosomal dominant (SPG-42) 612539 AD 1 - SLC33A1 - -
01751 THES1 trichohepatoenteric syndrome, type 1 (THES-1) 222470 AR 11 3 TTC37 - -
02738 TNZD zinc deficiency, transient neonatal (incl. breast milk, TNZD) 608118 AD - - SLC30A2 - -
00748 TTD trichothiodystrophy (TTD) - - 19 19 ERCC2, ERCC3, GTF2H5, MPLKIP - -
04324 TTD2 trichothiodystrophy, type 2, photosentitive (TTD-2) 616390 AR - - ERCC3 - -
02270 VACTERLX VACTERL association with hydrocephaly, X-linked (VACTERLX) 314390 XLR 1 1 FANCB, ZIC3 - -
00774 WT1 Wilms tumor, type 1, somatic (WT-1, nephroblastoma) 194070 AD;SMu 7 7 BRCA2, GPC3, H19, WT1 - -
02968 XPB xeroderma pigmentosum, complementation group B (XPB) 610651 AR - - ERCC3 - -
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