All diseases

55 entries on 1 page. Showing entries 1 - 55.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00536 - angiopathy, amyloid, cerebral, CST3-related (Icelandic type, amyloidosis type VI) 105150 AD 1 1 CST3 - -
01469 - neutrophilia, hereditary 162830 - - - CSF3R - -
01942 - holocarboxylase synthetase deficiency 253270 AR 1 1 HLCS - -
01367 ACNINV1 acne inversa, familial, type 1 (ACNINV-1, hidradenitis suppurativa, familial) 142690 AD 3 3 NCSTN - -
00537 ARMD11 macular degeneration, age-related, type 11 (ARMD-11) 611953 - - - CST3 - -
05356 ataxia ataxia - - 184 175 SACS - -
06679 BANDDOS Brain abnormalities, neurodegeneration, and dysosteosclerosis 618476 AR - - CSF1R - -
00036 BJS Bjornstad syndrome (BJS) 262000 AR - - BCS1L - -
03130 BMIQ12 body mass index quantitative trait locus 12 (BMIQ-12) 612362 - - - PCSK1 - -
03590 CMAMMA aciduria, combined malonic and methylmalonic (CMAMMA) 614265 - 1 1 ACSF3 - -
02663 CMD1M cardiomyopathy, dilated, type 1M (CMD-1M) 607482 - - - CSRP3 - -
05553 CMD2C cardiomyopathy, dialted, type 2C (CMD-2C) 618189 AR - - PPCS - autosomal recessive
03091 CMH12 cardiomyopathy, hypertrophic, familial, type 12 (CMH-12) 612124 AD - - CSRP3 - -
05288 DIAR diarrhea (DIAR) - - 91 91 ACSL5, WNT2B - -
07033 DIAR13 diarrhea, type 13 620357 AR - - ACSL5 - -
05728 ECTD dysplasia, ectodermal (ECTD) - - 60 59 CST6, KRT85 - -
06148 ECTD15 ?Ectodermal dysplasia 15, hypohidrotic/hair type 618535 AR - - CST6 - -
05788 EIEE66 encephalopathy, epileptic, early infantile, type 66 (EIEE66) 618067 AD 1 - PACS2 - -
03454 EPM epilepsy, myoclonic, progressive (EPM) - - 76 67 CSTB, GOSR2 - -
00009 EPM1A epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg) 254800 AR 2 3 CSTB - -
02498 FASPS sleep phase syndrome, advanced, familial - - - - CSNK1D, PER2, PER3 - -
03857 FASPS2 sleep phase syndrome, advanced, familial, type 2 (FASPS2) 615224 AD - - CSNK1D - -
00164 FHCL3 hypercholesterolemia, familial, type 3 603776 AD - - PCSK9 - -
00035 GCE encephalopathy, glycine (GCE) - - 588 588 AMT, GCSH, GLDC - -
01653 GDLD dystrophy, corneal, gelatinous drop-like (GDLD) 204870 AR - - TACSTD2 - -
00039 GRACILE GRACILE syndrome 603358 AR - - BCS1L - -
01749 HDLS leukoencephalopathy, diffuse hereditary, with spheroid (HDLS) 221820 AD 3 1 CSF1R - -
00170 HMGCS2D 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, type 2D 605911 AR 14 14 HMGCS2 - -
00139 ID intellectual disability (ID) - - 2700 2382 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
04039 JBTS21 Joubert syndrome, type 21 (JBTS-21) 615636 AR 1 1 CSPP1 - -
00038 LS Leigh syndrome (LS) 256000 AR;Mi 72 62 BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
02246 LSDMCA1 Linear skin defects with multiple congenital anomalies 1 309801 XLD - - HCCS - -
05452 MC3DN mitochondrial complex III deficiency, nuclear (MC3DN)] - - 4 4 BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ - -
00037 MC3DN1 mitochondrial complex III deficiency, nuclear, type 1 (MC3DN-1)] 124000 AR 1 1 BCS1L - -
07138 MMDS7 mitochondrial dysfunctions, multiple, syndrome, type 7 620423 AR - - GCSH - -
05759 MOCOD deficiency, Molybdenum cofactor (MOCOD) - - 24 24 GPHN, MOCS1, MOCS2 - -
01927 MOCODA deficiency, Molybdenum cofactor, complementation group A (MOCODA) 252150 AR - - MOCS1 - -
01928 MOCODB deficiency, Molybdenum cofactor, complementation group B (MOCODB) 252160 AR - - MOCS2 - -
01125 MRX63 mental retardation, X-linked, type 63 (MRX63) 300387 XLD 2 - ACSL4 - -
02325 obesity obesity with impaired prohormone processing (proprotein convertase 1/3 deficiency) 600955 AR 1 1 PCSK1 - -
06507 OCNDS Okur-Chung neurodevelopmental syndrome 617062 AD 2 2 CSNK2A1 - -
03443 PCH2D hypoplasia, pontocerebellar, type 2D (PCH-2D) 613811 AR - - SEPSECS - -
01512 PCLD liver disease, polycystic (PCLD) - - 2 1 PRKCSH, SEC63 - -
05344 PCLD1 liver disease, polycystic, type 1 (PCLD-1) 174050 AD - - PRKCSH - -
06723 POBINDS Poirier-Bienvenu neurodevelopmental syndrome 618732 AD 1 1 CSNK2B - -
02724 PSS4 skin, peeling, syndrome, type 4 (PSS-4, exfoliative ichthyosis) 607936 AR - - CSTA - autosomal recessive
02076 SACS ataxia, spastic, Charlevoix-Saguenay type (SACS) 270550 AR 100 99 SACS - -
06009 SCN7 Neutropenia, severe congenital, 7, autosomal recessive 617014 AR - - CSF3R - -
06804 SDJLABA Skeletal dysplasia, mild, with joint laxity and advanced bone age 618870 - - - CSGALNACT1 - -
00851 SHMS;MRD17 Schuurs-Hoeijmakers syndrome (SHMS, mental retardation, autosomal dominant, type 17 (MRD-17)) 615009 AD 1 1 PACS1 - -
04182 SMDP surfactant metabolism dysfunction, pulmonary (SMDP) - - - - CSF2RA - -
04181 SMDP4 surfactant metabolism dysfunction, pulmonary, type 4 (SMDP4) 300770 - - - CSF2RA - -
03614 SMDP5 surfactant metabolism dysfunction, pulmonary, type 5 (SMDP-5) 614370 AR - - CSF2RB - -
05355 spastic ataxia ataxia, spastic - - 95 95 SACS - -
03077 THC4 thrombocytopenia, type 4 (THC-4) 612004 AD - - CYCS - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.