All diseases

134 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
00683 - cancer, breast, familial 114480 - 8102 785 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
00980 - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) 238970 - 14 14 SLC25A15 - -
01281 - Dentin dysplasia, type I 125400 - 0 0 SMOC2 - -
01661 - Apolipoprotein C2 deficiency 207750 - 0 0 APOC2 - -
01774 - epidermolysis bullosa, junctional, non-Herlitz type 226650 - 1 1 COL17A1, ITGB4, LAMA3, LAMB3, LAMC2 - -
01776 - epidermolysis bullosa, junctional, Herlitz type 226700 - 0 0 LAMA3, LAMB3, LAMC2 - -
02266 - Spondyloepiphyseal dysplasia tarda 313400 - 0 0 TRAPPC2 - -
02533 - Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 605115 - 0 0 NR3C2 - -
02744 - neutrophil immunodeficiency syndrome 608203 - 0 0 RAC2 - -
02981 - Mitochondrial phosphate carrier deficiency 610773 - 0 0 SLC25A3 - -
03216 - Hypomyelination, global cerebral 612949 - 0 0 SLC25A12 - -
05479 ACG achondrogenesis (ACG) - - 1 1 COL2A1, SLC26A2, TRIP11 - -
00105 ACG-1B achondrogenesis, type IB (ACG-1B) 600972 - 1 3 SLC26A2 - -
00639 ACLC cancer, lung (adenocarcinoma) 211980 - 11 8 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18 - -
04121 AI2A-5 amelogenesis imperfecta, hypomaturation type, IIA5 (AI2A-5) 615887 - 0 0 SLC24A4 - -
05212 AMDME ataxia, myoclonia, dysarthria, muscle weakness, exercise intolerance - - 1 1 SLC25A32 brain;skeletal muscle severe neuromuscular phenotype
00908 AML leukemia, myeloid, acute (AML) 601626 - 43 28 CBFB, CEBPA, CHIC2, ETV6, FLT3, GATA2, JAK2, KIT, KRAS, LPP, MLF1, MLLT10, NPM1, NSD1, NUP214, PICALM, PTPN11, RUNX1, SH3GL1, TERT, WHSC1L1 - -
00106 AO-2 atelosteogenesis, type II (AO-2, De la Chapelle dysplasia) 256050 - 1 4 SLC26A2 - -
03965 ARMD-14 macular degeneration, age-related, type 14 (ARMD-14) 615489 - 0 0 C2, CFB - -
02948 ARVD-11 dysplasia, ventricular, right, arrhythmogenic, type 11 (ARVD-11) 610476 - 0 0 DSC2 - -
00435 ATS tortuosity, arterial, syndrome (ATS) 208050 - 13 13 SLC2A10 - -
00089 BBS-1 Bardet-Biedl syndrome, type 1 (BBS-1) 209900 - 11 11 ARL6, BBS1, CCDC28B, MKS1, TMEM67 - -
01717 C2D complement component 2 deficiency (C2D) 217000 - 0 0 C2 - -
01693 CACTD carnitine acylcarnitine translocase deficiency (CACTD) 212138 - 0 0 SLC25A20 - -
01759 CDAN-2 anemia, dyserythropoietic, congenital, type II (CDAN-2) 224100 - 0 0 SEC23B - -
01694 CDSP carnitine deficiency, systemic primary (CDSP) 212140 AR 57 9 SLC22A5 - -
03969 CILD-26 dyskinesia, ciliary, primary, 26 (CILD-26) 615500 - 0 0 C21orf59 - -
05398 CLCRP syndrome, Cole-Carpenter (CLCRP) - - 8 8 P4HB, SEC24D - -
04654 CLCRP2 syndrome, Cole-Carpenter, type 2 (CLCRP2) 616294 AR 0 0 SEC24D - -
02706 CLSD dysplasia, craniolenticulosutural (CLSD 607812 - 0 0 SEC23A - -
05803 CMS23 myasthenic syndrome, congenital, type 23, presynaptic (CMS23) 618197 AR 0 0 SLC25A1 - -
05113 CMT Charcot-Marie-Tooth disease (CMT) - - 787 751 ATP1A1, MFN2, MORC2, VWA1 - -
00199 CMT-2 Charcot-Marie-Tooth disease, type 2 (CMT-2) - - 226 148 MORC2 - -
00370 CMT-4C Charcot-Marie-Tooth disease, type 4C (CMT-4C) 601596 - 1 1 SH3TC2 - autosomal recessive
05791 CMT2Z Charcot-Marie-Tooth disease, type 2Z (CMT2Z) 616688 AD 0 0 MORC2 - -
00076 COACH COACH syndrome 216360 - 1 1 CC2D2A, RPGRIP1L, TMEM67 - -
00749 COFS-2 cerebrooculofacioskeletal syndrome, type 2 (COFS-2 610756 - 0 0 ERCC2 - -
03950 COXPD-17 combined oxidative phosphorylation deficiency, type 17 (COXPD-17) 615440 - 0 0 ELAC2 - -
03453 CSNB-1D blindness, night, stationary, congenital, type 1D (CSNB-1D) 613830 - 0 0 SLC24A1 - -
05795 CSS8 syndrome, Coffin-Siris, type 8 (CSS8) 618362 AD 0 0 SMARCC2 - -
02453 CTLN-2 citrullinemia, type II (CTLN-2) 603471 - 39 39 SLC25A13 - -
03847 D2L2AD aciduria, combined d-2- and l-2-hydroxyglutaric (D2L2AD 615182 AR 0 0 SLC25A1 - -
00864 DFNB-4 deafness, autosomal recessive, type 4 (DFNB-4), with enlarged vestibular aqueduct 600791 - 19 19 FOXI1, KCNJ10, SLC26A4 - -
03474 DFNB-61 deafness, autosomal recessive, type 61 (DFNB-61) 613865 - 0 0 SLC26A5 - -
04437 DFNB-66 deafness?, autosomal recessive, type 66 (DFNB-66) 610212 - 0 0 DCDC2 - -
00088 DIAR-1 diarrhea, type 1, chloride, secretory, congenital (Finnish type, DIAR-1) 214700 - 69 2 SLC26A3 - -
01851 DJS syndrome, Dubin-Johnson (DJS) 237500 - 3 3 ABCC2 - autosomal recessive
00072 DTD dysplasia, diastrophic (DTD) 222600 - 0 0 SLC26A2 - -
00546 DYT-9 dystonia, type 9 (DYT-9) 601042 - 0 0 SLC2A1 - -
00107 EDM-4 dysplasia, epiphyseal, multiple, type 4 (EDM-4) 226900 - 0 6 SLC26A2 - -
02842 EIEE-3 encephalopathy, epileptic, early infantile, type 3 (EIEE-3) 609304 - 1 1 SLC25A22 - -
03749 EIG-12 epilepsy, idiopathic, generalized, susceptibility to, type 12 (EIG-12) 614847 - 0 0 SLC2A1 - -
00603 EVC syndrome Ellis-van Creveld (EVC) 225500 AR 155 147 EVC, EVC2 - -
05186 FANCU Fanconi anemia, complementation group U (FANCU) - - 0 0 XRCC2 - -
00585 FBS Fanconi-Bickel syndrome (FBS) 227810 - 0 0 SLC2A2 - -
02650 FCORD-2 dysplasia, cortical, focal type II (FCORD-2) 607341 - 4 0 MTOR, TSC1, TSC2 - -
01632 GCCD1 glucocorticoid deficiency, due to ACTH unresponsiveness (GCCD1, ACTH resistance) 202200 AR 1 1 MC2R - -
00544 GLUT1DS-1 GLUT1 deficiency syndrome, type 1, infantile onset, severe (GLUT1DS-1) 606777 - 8 8 SLC2A1 - -
00545 GLUT1DS-2;DYT-18 GLUT1 deficiency syndrome, type 2, childhood onset (GLUT1DS-2, dystonia type 18 (DYT-18)) 612126 - 0 0 SLC2A1 - -
02794 HLD-2;PMLD-1 leukodystrophy, hypomyelinating, type 2 (HLD-2, Pelizaeus-Merzbacher like disease 1 (PMLD-1)) 608804 - 7 7 GJC2 - -
02441 HLPS syndrome, histiocytosis-lymphadenopathy plus (HLPS) 602782 - 18 18 SLC29A3 - -
04664 HMSN-6B neuropathy, motor and sensory, hereditary, type VIB (HMSN-6B) 616505 - 0 0 SLC25A46 - -
03714 HPC-2 cancer, prostate, hereditary, type 2 (HPC-12) 614731 - 0 0 ELAC2 - -
00438 HPE holoprosencephaly (HPE) 236100 - 9 9 GLI2, SHH, SIX3, TGIF1, ZIC2 - -
02867 HPE-5 holoprosencephaly, type 5 (HPE-5) 609637 - 0 0 ZIC2 - -
03373 HSAN-1C neuropathy, sensory and autonomic, hereditary, type IC (HSAN-1C) 613640 - 0 0 SPTLC2 - -
03677 IBGC calcification, basal ganglia, idiopathic (IBGC) 614540 - 11 11 SLC20A2 - -
01699 IBGC-1 calcification, basal ganglia, idiopathic, type 1 (IBGC-1, Fahr's syndrome) 213600 - 24 24 SLC20A2 - autosomal dominant
00139 ID intellectual disability (ID) - - 1837 1570 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 536 more - -
05370 INFF infertility, female (INFF) - - 53 54 CDC20, EBAG9, PANX1 - -
02779 IPS ichthyosis prematurity syndrome (IPS) 608649 - 0 0 SLC27A4 - -
00082 JBTS-9 Joubert syndrome, type 9 (JBTS-9) 612285 - 0 0 CC2D2A - -
00317 LAM lymphangioleiomyomatosis (LAM) 606690 - 27 27 TSC1, TSC2 - -
03343 LMPH-1C lymphedema, hereditary, type Ic (LMPH-1C) 613480 - 2 2 GJC2 - -
01419 lymphedema syndrome, lymphedema-distichiasis 153400 - 88 88 FOXC2 - autosomal dominant
05452 MC3DN mitochondrial complex III deficiency, nuclear (MC3DN)] - - 4 4 BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ - -
03845 MC3DN-5 mitochondrial complex III deficiency, nuclear type 5 (MC3DN-5) 615160 - 0 0 UQCRC2 - -
01678 MCC2D 3-methylcrotonyl CoA carboxylase 2 deficiency (MCC2D) 210210 - 2 2 MCCC2 - -
01013 MCPHA microcephaly, Amish type (MCPHA) 607196 - 1 1 SLC25A19 - -
00081 MKS-6 Meckel syndrome, type 6 (MKS-6) 612284 - 0 0 CC2D2A - -
03316 MNMN mononeuropathy of the median nerve, mild (MNMN) 613353 - 0 0 SH3TC2 - -
00812 MRT-3 mental retardation, autosomal recessive, type 3 (MRT-3) 608443 - 0 0 CC2D1A - -
03982 MRT38 mental retardation, autosomal recessive, type 38 (MRT38) 615516 AR 1 1 HERC2 - -
00822 MRX1 mental retardation, X-linked, type 1 (MRX1) 309530 - 0 0 IQSEC2 - -
05032 MRX12;MRX35 mental retardation, X-linked, type 12/35 (MRX12;MRX35) 300957 - 0 0 THOC2 - -
01158 MRX32 mental retardation, X-linked, syndromic, type 32 (MRX32) 300886 - 0 0 CLIC2 - -
03936 MTDPS-12 mitochondrial DNA depletion syndrome, type 12 (MTDPS-12, cardiomyopathic type) 615418 - 0 0 SLC25A4 - -
05611 NDD neurodevelopmental delay (NDD) - - 1036 1009 ADARB1, AP1G1, DDB1, DHX30, EIF2C1, EIF2C2, GLTSCR1, IQSEC1, MAPK1, MAPK8IP3, NCDN, NCKAP1, NTNG2, POLR2A, POU3F3, PPM1D, SATB1, SCAF4, SHMT2, TAOK1, 3 more - -
05771 NEDAHM neurodevelopmental disorder with ataxia, hypotonia, and microcephaly (NEDAHM) 618569 AR 1 1 CCDC23 - -
02564 NICCD citrullinemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)) 605814 - 29 29 SLC25A13 - -
02680 NPC2 Niemann-Pick disease type C2 (NPC2) 607625 AR 1 1 NPC2 - -
03447 NPHP-12;JBTS-11 nephronophthisis, type 12 (NPHP-12, Joubert syndrome 11 (JBTS-11)) 613820 - 0 0 TTC21B - -
04438 NPHP-19 nephronophthisis, type 19 (NPHP-19) 616217 - 0 0 DCDC2 - -
00671 NSLH Noonan-like syndrome with loose anagen hair (NSLH) 607721 - 3 4 SHOC2 - -
04144 OFD-14 orofaciodigital syndrome, type XIV (OFD-14) 615948 - 5 4 C2CD3 - -
05296 OI osteogenesis imperfecta (OI) - - 3882 1079 BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, MBTPS2, MESDC2, P3H1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1 - -
05891 OI20 osteogenesis imperfecta, type XX (OI20) 618644 AR 0 0 MESDC2 - -
02098 PDS;TDH-2B syndrome, Pendred (PDS, Thyroid dyshormonogenesis 2B) 274600 AR 97 97 SLC26A4 - -
02839 PEOA-2 ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 2 (PEOA-2) 609283 - 0 0 SLC25A4 - -
01531 PHA-1A pseudohypoaldosteronism type 1 autosomal dominant (PHA-1A) 177735 - 1 0 NR3C2 - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »