All diseases

174 entries on 2 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00980 - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) 238970 AR 15 15 SLC25A15 - -
01661 - Apolipoprotein C2 deficiency 207750 AR - - APOC2 - -
01774 - epidermolysis bullosa, junctional, non-Herlitz type 226650 AR 1 1 COL17A1, ITGB4, LAMA3, LAMB3, LAMC2 - -
01776 - epidermolysis bullosa, junctional, Herlitz type 226700 AR - - LAMA3, LAMB3, LAMC2 - -
02533 - Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 605115 - - - NR3C2 - -
05479 ACG achondrogenesis (ACG) - - 1 1 COL2A1, SLC26A2, TRIP11 - -
00105 ACG1B achondrogenesis, type IB (ACG-1B) 600972 AR 1 3 SLC26A2 - -
04121 AI2A5 amelogenesis imperfecta, hypomaturation type, IIA5 (AI2A5) 615887 AR - - 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 AO2 atelosteogenesis, type II (AO-2, De la Chapelle dysplasia) 256050 AR 1 4 SLC26A2 - -
03965 ARMD14 macular degeneration, age-related, type 14 (ARMD-14) 615489 - - - C2, CFB - -
02948 ARVD11 dysplasia, ventricular, right, arrhythmogenic, type 11 (ARVD-11) 610476 AD;AR - - DSC2 - -
00435 ATORS tortuosity, arterial, syndrome 208050 AR 13 13 SLC2A10 - -
00089 BBS1 Bardet-Biedl syndrome, type 1 (BBS-1) 209900 AR;DR 12 11 BBS1, CCDC28B, MKS1, TMEM67 - -
06658 BMFS3 Bone marrow failure syndrome 3 617052 AR - - DNAJC21 - -
01717 C2D complement component 2 deficiency (C2D) 217000 AR - - C2 - -
01693 CACTD carnitine acylcarnitine translocase deficiency (CACTD) 212138 AR 1 1 SLC25A20 - -
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 - -
01223 CCD cardiac conduction defect (CCD) 115080 AD 28 29 AKAP10, POPDC2 - -
01759 CDAN2 anemia, dyserythropoietic, congenital, type II (CDAN-2) 224100 AR - - SEC23B - -
06446 CDCBM10 Cortical dysplasia, complex, with other brain malformations 10 618677 AR - - APC2 - -
01694 CDSP carnitine deficiency, systemic primary (CDSP) 212140 AR 58 10 SLC22A5 - -
00332 CILD dyskinesia, ciliary, primary (CILD) - - 219 211 C21orf59, CCDC164, CCDC39, DNAAF3, DNAH1, DNAH5, HEATR2, HYDIN, TTC12 - -
03969 CILD26 dyskinesia, ciliary, primary, 26 (CILD-26) 615500 AR - - C21orf59 - -
06334 CILD35 Ciliary dyskinesia, primary, 35 617092 AR - - TTC25 - -
05398 CLCRP Cole-Carpenter syndrome (CLCRP) - - 8 8 P4HB, SEC24D - -
04654 CLCRP2 Cole-Carpenter syndrome, type 2 (CLCRP2) 616294 AR - - SEC24D - -
02706 CLSD dysplasia, craniolenticulosutural (CLSD 607812 AR - - SEC23A - -
05803 CMS23 myasthenic syndrome, congenital, type 23, presynaptic (CMS23) 618197 AR - - SLC25A1 - -
05113 CMT Charcot-Marie-Tooth disease (CMT) - - 957 895 ATP1A1, DHX9, MFN2, MORC2, PLEKHG5, TRIM2, VWA1 - -
00199 CMT2 Charcot-Marie-Tooth disease, type 2 (CMT-2) - - 239 158 MORC2 - -
05791 CMT2Z Charcot-Marie-Tooth disease, type 2Z (CMT2Z) 616688 AD 2 1 MORC2 - -
00370 CMT4C Charcot-Marie-Tooth disease, type 4C (CMT-4C) 601596 AR 6 5 SH3TC2 - autosomal recessive
00076 COACH COACH syndrome 216360 AR 1 1 CC2D2A, RPGRIP1L, TMEM67 - -
00749 COFS2 cerebrooculofacioskeletal syndrome, type 2 (COFS-2 610756 AR - - ERCC2 - -
03950 COXPD17 combined oxidative phosphorylation deficiency, type 17 (COXPD-17) 615440 AR - - ELAC2 - -
06557 COXPD28 Combined oxidative phosphorylation deficiency 28 616794 AR - - SLC25A26 - -
03453 CSNB1D blindness, night, stationary, congenital, type 1D (CSNB-1D) 613830 - - - SLC24A1 - -
00156 CSS Coffin-Siris syndrome (CSS) - - 285 255 ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11 - -
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
02453 CTLN2 citrullinemia, type II (CTLN-2) 603471 AR 64 64 SLC25A13 - -
06504 CWS7 ?Cowden syndrome 7 616858 AD - - SEC23B - -
03847 D2L2AD aciduria, combined d-2- and l-2-hydroxyglutaric (D2L2AD 615182 AR - - SLC25A1 - -
00864 DFNB4 deafness, autosomal recessive, type 4, with enlarged vestibular aqueduct 600791 AR 19 19 FOXI1, KCNJ10, SLC26A4 - -
03474 DFNB61 deafness, autosomal recessive, type 61 (DFNB-61) 613865 AR - - SLC26A5 - -
04437 DFNB66 deafness?, autosomal recessive, type 66 (DFNB-66) 610212 AR - - DCDC2 - -
00088 DIAR1 diarrhea, type 1, chloride, secretory, congenital (Finnish type, DIAR-1) 214700 AR 69 2 SLC26A3 - -
07047 DIGFAN developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 619090 AD - - MORC2 - -
01851 DJS Dubin-Johnson syndrome (DJS) 237500 AR 3 3 ABCC2 - autosomal recessive
00072 DTD dysplasia, diastrophic (DTD) 222600 AR - - SLC26A2 - -
01281 DTDP1 dysplasia, dentin, type I (DTDP1) 125400 AR - - SMOC2 - -
00546 DYT9 dystonia, type 9 (DYT-9) 601042 AD - - SLC2A1 - -
00107 EDM4 dysplasia, epiphyseal, multiple, type 4 (EDM-4) 226900 AR - 6 SLC26A2 - -
02842 EIEE3 encephalopathy, epileptic, early infantile, type 3 (EIEE-3) 609304 AR 1 1 SLC25A22 - -
03216 EIEE39 Epileptic encephalopathy, early infantile, 39 612949 AR - - SLC25A12 - -
03749 EIG12 epilepsy, idiopathic, generalized, susceptibility to, type 12 (EIG-12) 614847 AD - - SLC2A1 - -
00603 EVC Ellis-van Creveld syndrome (EVC) 225500 AR 160 152 EVC, EVC2 - -
06740 FANCU ?Fanconi anemia, complementation group U 617247 AR - - XRCC2 - -
00585 FBS Fanconi-Bickel syndrome (FBS) 227810 AR - - SLC2A2 - -
02650 FCORD2 dysplasia, cortical, focal type II (FCORD-2) 607341 - 4 - MTOR, TSC1, TSC2 - -
06092 FINCA FINCA syndrome 618278 AR - - NHLRC2 - -
05996 FPS Fontaine progeroid syndrome 612289 AD - - SLC25A24 - -
01632 GCCD1 glucocorticoid deficiency, due to ACTH unresponsiveness (GCCD1, ACTH resistance) 202200 AR 2 2 MC2R - -
00544 GLUT1DS1 GLUT1 deficiency syndrome, type 1, infantile onset, severe (GLUT1DS-1) 606777 AD;AR 9 9 SLC2A1 - -
00545 GLUT1DS2;DYT18 GLUT1 deficiency syndrome, type 2, childhood onset (GLUT1DS-2, dystonia type 18 (DYT-18)) 612126 AD 1 1 SLC2A1 - -
02794 HLD2;PMLD1 leukodystrophy, hypomyelinating, type 2 (HLD-2, Pelizaeus-Merzbacher like disease 1 (PMLD-1)) 608804 AR 7 7 GJC2 - -
02441 HLPS histiocytosis-lymphadenopathy plus syndrome 602782 AR 18 18 SLC29A3 - -
04664 HMSN6B neuropathy, motor and sensory, hereditary, type VIB (HMSN-6B) 616505 AR - - SLC25A46 - -
03714 HPC2 cancer, prostate, hereditary, type 2 (HPC-12) 614731 - - - ELAC2 - -
00438 HPE holoprosencephaly (HPE) 236100 - 15 14 GLI2, SHH, SIX3, TGIF1, ZIC2 - -
02867 HPE5 holoprosencephaly, type 5 (HPE-5) 609637 AD - - ZIC2 - -
03373 HSAN1C neuropathy, sensory and autonomic, hereditary, type IC (HSAN-1C) 613640 AD - - SPTLC2 - -
03677 IBGC calcification, basal ganglia, idiopathic (IBGC) 614540 - 11 11 SLC20A2 - -
01699 IBGC1 calcification, basal ganglia, idiopathic, type 1 (IBGC-1, Fahr's syndrome) 213600 AD 25 25 SLC20A2 - autosomal dominant
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
02744 IMD73A immunodeficiency, type 73A, with defective neutrophil chemotaxix and leukocytosis 608203 AD - - RAC2 - -
06948 IMD73B immunodeficiency, type 73B, with defective neutrophil chemotaxis and lymphopenia 618986 AD - - RAC2 - -
06949 IMD73C immunodeficiency, type 73C, with defective neutrophil chemotaxix and leukocytosis 618987 AR - - RAC2 - -
05370 INFF infertility, female (INFF) - - 93 91 CDC20, EBAG9, NLRP5, OOEP, PANX1, TBPL2, ZFP36L2 - -
02779 IPS ichthyosis prematurity syndrome (IPS) 608649 - - - SLC27A4 - -
00082 JBTS9 Joubert syndrome, type 9 (JBTS-9) 612285 AR 1 1 CC2D2A - -
00317 LAM lymphangioleiomyomatosis (LAM) 606690 - 27 27 TSC1, TSC2 - -
03343 LMPHM3 lymphatic malformation 3 613480 AD 2 2 GJC2 - -
01419 LPHDST Lymphedema-distichiasis syndrome 153400 AD 88 88 FOXC2 - autosomal dominant
06832 LUTO Lower urinary tract obstruction, congenital 618612 AD - - BNC2 - -
05452 MC3DN mitochondrial complex III deficiency, nuclear (MC3DN)] - - 4 4 BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ - -
03845 MC3DN5 mitochondrial complex III deficiency, nuclear type 5 (MC3DN-5) 615160 AR - - UQCRC2 - -
01678 MCC2D 3-methylcrotonyl CoA carboxylase 2 deficiency (MCC2D) 210210 AR 4 4 MCCC2 - -
01013 MCPHA microcephaly, Amish type (MCPHA) 607196 AR 1 1 SLC25A19 - -
06442 MECREN Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416 AR - - SLC25A42 - -
05578 MKS Meckel syndrome (MKS, Meckel-Gruber syndrome) - - 178 172 CC2D2A, RPGRIP1L, TMEM67 - -
00081 MKS6 Meckel syndrome, type 6 612284 AR - - CC2D2A - -
03316 MNMN mononeuropathy of the median nerve, mild (MNMN) 613353 AD - - SH3TC2 - -
02981 MPCD Mi phosphate carrier deficiency 610773 - - - SLC25A3 - -
00812 MRT3 mental retardation, autosomal recessive, type 3 (MRT-3) 608443 AR - - CC2D1A - -
03982 MRT38 mental retardation, autosomal recessive, type 38 (MRT38) 615516 AR 1 1 HERC2 - -
06816 MRT61 Mental retardation, autosomal recessive 61 617773 AR - - RUSC2 - -
00822 MRX1 mental retardation, X-linked, type 1 309530 XLD 4 2 IQSEC2 - -
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