All diseases

175 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 2 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 - 45 30 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 2 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 - 57 45 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) - - 220 212 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) - - 1163 1088 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) - - 286 256 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 65 65 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 1 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 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 27 27 SLC20A2 - autosomal dominant
00139 ID intellectual disability (ID) - - 2806 2487 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 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) - - 112 110 CDC20, EBAG9, NLRP5, OOEP, PANX1, TBPL2, TUBA1C, 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 - 28 28 TSC1, TSC2 - -
07272 LESKRES Lessel-Kreienkamp syndrome 619149 AD 45 45 EIF2C2 - delayed speech development (0.97), intellectual disability (0.97), motor delay (0.93), impaired receptive language (0.81), muscular hypotonia (0.69), autistic traits (0.58), attention deficit hyperactivity disorder (0.56), gait abnormalities (0.52), MRI brain structural abnormalities (0.44); dysmorphic features , epicanthic folds (0.52), thin upper lip (0.48), open mouth appearance (0.48), congenital craniofacial anomalies (0.40)
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 1 1 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 - -
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