All diseases

197 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01058 - Proud syndrome 300004 XL - - ARX - -
01962 - myxoma, intracardiac 255960 AD - - PRKAR1A - -
04214 - retinal disease - - 48179 45682 ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408 - -
01160 ACRDYS1 acrodysostosis, with/without hormone resistance 101800 AD 39 33 PRKAR1A - flat anterior facies, mid-face hypoplasia, hypertelorism, small nose, depressed nasal bridge, short columella, long philtrum, prominent chin; no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); severe brachydactyly, skeletal dysplasia, multiple hormone resistance
01333 ADERM adermatoglyphia (ADERM) 136000 AD - - SMARCAD1 - -
03805 AGS6 Aicardi-Goutieres syndrome, type 6 (AGS6) 615010 AR - - ADAR - -
04145 AIMAH2 acth-independent macronodular adrenal hyperplasia 2 615954 AD;SMu - - ARMC5 - -
02139 AIS insensitivity syndrome, androgen (AIS) 300068 XLR 590 590 AR, FOXD3 - -
00845 ALAZS Alazami syndrome (ALAZS) 615071 AR 15 15 LARP7 - -
03085 ALS10 sclerosis, lateral, amyotrophic, type type 10 (ALS10) 612069 AD 128 - TARDBP - -
03617 ALS16 sclerosis, lateral, amyotrophic, type 16, juvenile (ALS16) 614373 AR - - SIGMAR1 - -
00137 AOS1 Adams-Oliver syndrome, type 1 (AOS1) 100300 AD 1 54 ARHGAP31 - -
03132 APL leukemia, acute, promyelocytic 612376 - 1 1 NUMA1, RARA - -
01662 argininemia argininemia 207800 AR 130 107 ARG1 - -
03428 ARMD8 macular degeneration, age-related, type 8 (ARMD-8) 613778 - - - ARMS2 - -
02733 ARPHM;PVNH2 heterotopia, periventricular, autosomal recessive (ARPHM, periventricular heterotopia type 2 (PVNH-2)) 608097 AR 1 1 ARFGEF2 - autosomal recessive
04212 BBS Bardet-Biedl syndrome (BBS) - - 282 240 ARL6, BBS9, C8orf37, IFT74 - -
04364 BBS3 Bardet-Biedl syndrome, type 3 (BBS-3) 600151 AR 1 1 ARL6 - -
04393 BENTA B-cell expansion with NFKB and T-cell anergy (BENTA) 616452 AD - - CARD11 - -
04505 CAGSSS cataracts?, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) 616007 AR 7 7 IARS2 - -
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 - -
00639 cancer, lung cancer, lung (adenocarcinoma) 211980 - 55 43 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18 - -
00424 cancer, ovarian cancer, ovarian 167000 - 233 165 AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA - -
01524 cancer, prostate cancer, prostate 176807 AD;SMu 252 204 AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3 - -
01688 CANDF2 candidiasis, familial, type 2 (CANDF-2) 212050 AR 1 1 CARD9 - -
03953 CILD23 dyskinesia, ciliary, type 23 (CILD-23) 615451 AR 1 1 ARMC4 - -
02846 CIMT1 carotid intimal medial thickness 1 609338 - - - PPARG - -
01897 CMRD chylomicron retention disease 246700 AR 28 28 SAR1B - -
02364 CMT2D Charcot-Marie-Tooth disease, type 2D (CMT-2D) 601472 AD 1 1 GARS - -
03301 CMT2N Charcot-Marie-Tooth disease, type 2N (CMT2N) 613287 AD - - AARS - -
04569 CMT2U Charcot-Marie-Tooth disease, axonal, type 2U (CMT-2U) 616280 AD 2 2 MARS - -
02751 CMTDIC Charcot-Marie-Tooth disease, dominant intermediate, type C (CMTDIC) 608323 AD 4 4 YARS - -
03374 CMTRIB Charcot-Marie-Tooth disease, recessive intermediate B (CMTRIB) 613641 AR - - KARS - -
01459 CNC1 Carney complex, type 1 (CNC-1) 160980 AD 1 1 PRKAR1A - -
03792 COXPD12 combined oxidative phosphorylation deficiency, type 12 (COXPD-12) 614924 AR - - EARS2 - -
00847 COXPD14 oxidative phosphorylation deficiency, combined, type 14 (COXPD-14) 614946 AR - - FARS2 - -
05060 COXPD20 oxidative phosphorylation deficiency, combined, type 20 (COXPD-20) 615917 AR - - VARS2 - -
04131 COXPD21 combined oxidative phosphorylation deficiency, type 21 (COXPD-21) 615918 AR - - TARS2 - -
04590 COXPD24 oxidative phosphorylation deficiency, combined, type 24 (COXPD-24) 616239 AR - - NARS2 - -
04570 COXPD25 oxidative phosphorylation deficiency?, combined, type 25 (COXPD-25) 616430 AR - - MARS2 - -
06214 COXPD27 Combined oxidative phosphorylation deficiency 27 616672 AR - - CARS2 - -
03546 COXPD8 combined oxidative phosphorylation deficiency, type 8 (COXPD-8) 614096 AR - - AARS2 - -
02221 CPDX1 chondrodysplasia punctata, type 1, X-linked recessive (CPDX-1) 302950 XLR 58 56 ARSE - -
00156 CSS Coffin-Siris syndrome (CSS) - - 285 255 ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11 - -
05797 CSS11 Coffin-Siris syndrome, type 11 (CSS11) 618779 AD - - SMARCD1 - -
05385 CSS1;MRD12 Coffin-Siris syndrome, type 1 (MRD12) 135900 AD 10 9 ARID1B - autosomal dominant
00790 CSS2;MRD14 Coffin-Siris syndrome, type 2 614607 AD 2 2 ARID1A - -
00756 CSS3;MRD15 Coffin-Siris syndrome, type 3 (CSS3, mental retardation, autosomal dominant syndrome, type 15 (MRD15)) 614608 AD - - SMARCB1 - -
01018 CSS4;MRD16 Coffin-Siris syndrome, type 4 (CSS4, mental retardation, autosomal dominant syndrome, type 16 (MRD16)) 614609 AD 2 2 SMARCA4 - -
05386 CSS5 Coffin-Siris syndrome, type 5 (CSS5) 616938 AD - - SMARCE1 - autosomal dominant
05387 CSS6 Coffin-Siris syndrome, type 6 (CSS6) 617808 AD 2 2 ARID2 - autosomal dominant
05795 CSS8 Coffin-Siris syndrome, type 8 (CSS8) 618362 AR - - SMARCC2 - neurodevelopmental delay, mild to severe intellectual disability, profound speech delay, behavioral abnormalities, muscular hypotonia, feeding disorders in infancy, dysmorphic facial features
05912 DEAPLE deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) 619196 AR - - KARS - -
07167 DEDISB developmental delay, impaired speech, and behavioral abnormalities, with/without seizures 619964 AD - - ARFGEF1 - -
00264 DEE1 encephalopathy, developmental and epileptic, type 1 308350 XLR 34 31 ARX - -
04342 DEE29 encephalopathy, developmental and epileptic, type 29 (DEE29) 616339 AR - - AARS - -
02908 DFNB49 deafness, autosomal recessive, type 49 (DFNB-49) 610153 AR 2 2 MARVELD2 - -
03486 DFNB89 deafness, autosomal recessive, type 89 (DFNB89) 613916 AR 1 1 KARS - -
06142 DFNB94 ?Deafness, autosomal recessive 94 618434 AR - - NARS2 - -
03756 DFNB98 deafness, autosomal recessive, type 98 (DFNB-98) 614861 AR - - TSPEAR - -
04604 DKCB6 dyskeratosis congenita, autosomal recessive, type 6 (DKCB-6) 616353 AR - - PARN - -
04365 DO blood group, Dombrock (DO) 616060 - - - ART4 - -
01291 DSH dyschromatosis symmetrica hereditaria (DSH) 127400 AD 8 8 ADAR - autosomal dominant
01298 ECTD10A dysplasia, ectodermal, type 10A, hypohidrotic/hair/nail, autosomal dominant (ECTD10A) 129490 AD 9 9 EDAR - -
01763 ECTD10B dysplasia, ectodermal, type 10B, hypohidrotic/hair/tooth, autosomal recessive (ECTD10B) 224900 AR 9 7 EDAR - -
03795 ECTD11A dysplasia, ectodermal, type 11A, hypohidrotic/hair/tooth, autosomal dominant (ECTD11A) 614940 AD 2 2 EDARADD - -
03796 ECTD11B dysplasia, ectodermal, type 11B, hypohidrotic/hair/tooth, autosomal recessive (ECTD11B) 614941 AR - - EDARADD - -
06524 ECTD14 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 618180 AR - - TSPEAR - -
06010 EIEE38 Epileptic encephalopathy, early infantile, 38 617020 AR - - ARV1 - -
06055 EIEE75 Epileptic encephalopathy, early infantile, 75 618437 AR - - PARS2 - -
04363 EIEE8 encephalopathy, epileptic, early infantile, type 8 (EIEE-8) 300607 XLR - - ARHGEF9 - -
01954 EPM4 epilepsy, progressive myoclonic, type 4, with or without renal failure 254900 AR - - SCARB2 - -
05408 FAME epilepsy, myoclonic, familial adult (FAME) - - 69 68 CTNND2, MARCH6, RAPGEF2, SAMD12, STARD7, TNRC6A, YEATS2 - autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course
04347 FAME2;FMCTE2 epilepsy, myoclonic, familial adult, type 2 (FAME2) 607876 AD - - STARD7 - -
05587 FAME3;FMCTE3 epilepsy, myoclonic, familial adult, type 3 (FAME3, FMCTE3) 613608 AD - - MARCH6 - autosomal dominant
05545 FPLD lipodystrophy, familial partial (FPLD) - - 61 61 PPARG - -
02503 FPLD3 lipodystrophy, familial partial, type 3 (FPLD-3) 604367 AD - - PPARG, PPP1R3A - -
01196 FY blood group system, Dyffy 110700 AD;AR - - DARC - -
06810 GRIDHH Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 617093 AR - - IARS - -
00337 HBSL leukoencephalopathy, hypomyelination with brain stem and spinal cord involvement, leg spasticity (HBSL) 615281 AR 8 8 DARS - -
02979 HDLCQ6 HDL cholesterol level, quantitative trait locus 6 (HDLCQ-6) 610762 - - - SCARB1 - -
06564 HLASA ?Hydrops, lactic acidosis, and sideroblastic anemia 617021 AR - - LARS2 - -
04640 HLD9 leukodystrophy, hypomyelinating, type 9 (HLD-9) 616140 AR 1 1 RARS - -
05111 HMN neuropathy, motor, distal, hereditary (HMN) - - 109 106 GBF1, WARS - -
00195 HMN5A neuropathy, motor, distal, hereditary, type Va (HMN-5A) 600794 AD 23 22 BSCL2, GARS - -
06237 HMN9 Neuronopathy, distal hereditary motor, type IX 617721 AD - - WARS - -
03164 HRM1 hair morphology, type 1, thickness (HRM1) 612630 - - - EDAR - -
06608 HRZ Huriez syndrome 181600 AD - - SMARCAD1 - -
03461 HUPRAS hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRAS) 613845 AR - - SARS2 - autosomal recessive
07009 HYC hydrocephalus - - 13 13 SMARCC1, TRIM71 - -
07008 HYC5 hydrocephalus, congenital, type 5, susceptibility 620241 AD - - SMARCC1 - -
02131 HYPT8 hypotrichosis, type 8 (HYPT-8) 278150 AR - - LPAR6 - -
02173 HYSP1 hypospadias, type 1, X-linked (HYSP-1) 300633 XLR 1 1 AR - -
00139 ID intellectual disability (ID) - - 2706 2388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
03948 ILFS1 liver failure syndrome, infantile, type 1 615438 AR 1 1 LARS - -
03964 ILLD lung and liver disease, interstitial (ILLD, liver failure syndrome, infantile, type 2) 615486 AR 7 7 MARS - -
07160 IMD113 immunodeficiency, type 113, with autoimmunity and autoinflammation 620565 AR - - ARPC5 - -
03852 IMD11A Immunodeficiency 11A 615206 AR - - CARD11 - -
06744 IMD11B Immunodeficiency 11B with atopic dermatitis 617638 AD - - CARD11 - -
06521 IMD45 ?Immunodeficiency 45 616669 AR - - IFNAR2 - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


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