All diseases

97 entries on 1 page. Showing entries 1 - 97.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02044 - Pyruvate carboxylase deficiency 266150 AR 3 3 PC - -
02571 - acidemia, propionic 606054 AR 218 218 PCCA, PCCB - -
03519 - Hepatic lipase deficiency 614025 AR - - LIPC - -
05233 - lipodystrophy, congenital, and fatty liver disease - - 2 2 PCYT1A - -
04132 ATLD2 ataxia-telangiectasia-like disorder 2 615919 AR - - PCNA - -
05062 BBS15 Bardet-Biedl syndrome?, type 15 (BBS-15) 615992 AR - - WDPCP - -
03130 BMIQ12 body mass index quantitative trait locus 12 (BMIQ-12) 612362 - - - PCSK1 - -
03381 cancer, gastric cancer, gastric (Neoplasm of stomach) 613659 - 102 88 APC, CASP10, ERBB2, FGFR2, IRF1, KLF6, MUTYH, PIK3CA - -
01221 cancer, liver cancer, hepatocellular (HCC) 114550 - 4 4 APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53 liver -
00424 cancer, ovarian cancer, ovarian 167000 - 233 165 AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA - -
06446 CDCBM10 Cortical dysplasia, complex, with other brain malformations 10 618677 AR - - APC2 - -
05063 CHDTHP heart defects, congential?, hamartomas of tongue, and polysyndactyly (CHDTHP) 217085 AR - - WDPCP - -
05553 CMD2C cardiomyopathy, dialted, type 2C (CMD-2C) 618189 AR - - PPCS - autosomal recessive
01226 CMH4 cardiomyopathy, hypertrophic, familial, type 4 (CMH-4) 115197 AD;AR 1 1 MYBPC3 - -
00091 CRC cancer, colorectal, susceptibility to (CRC) 114500 AD;SMu 3065 1838 AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
03609 DA1B arthrogryposis, distal, type 1B (DA-1B) 614335 AD - - MYBPC1 - -
00313 DESMD desmoid disease, hereditary 135290 AD - - APC - -
05458 DFN deafness, nonsyndromic (DFN) - - 49 44 CDC14A, CDH23, CEACAM16, FAM65B, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, PDZD7, TECTA, TMC1, USH1C - -
05400 DFNB deafness, autosomal recessive (DFNB) - - 955 951 CDH23, CIB2, FAM65B, GRXCR1, HGF, MYO15A, MYO7A, OTOF, OTOG, PCDH15, RDX, S1PR2, SERPINB6, STRC, TMC1, USH1C - autosomal recessive
02398 DFNB15 deafness, autosomal recessive, type 15 (DFNB-15) 601869 AR 4 4 GIPC3 - -
02858 DFNB23 deafness, autosomal recessive, type 23 (DFNB-23) 609533 AR 1 1 PCDH15 - -
03286 DIAR5 diarrhea, type 5, with tufting enteropathy, congenital (DIAR-5) 613217 AR 2 2 EPCAM - autosomal recessive
06650 DMJDS1 dysplasia, diencephalic-mesencephalic junction, syndrome 1 251280 AR - - PCDH12 - -
04503 DYT2 dystonia, type 2, torsion, autosomal recessive (DYT-2) 224500 AR 1 2 HPCA - -
02142 EIEE9 encephalopathy, epileptic, early infantile, type 9 (EIEE-9) 300088 XL 42 8 PCDH19 - early infantile epileptic encephalopathy, also known as epilepsy and mental retardation restricted to females (EFMR)
00312 FAP1 adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome) 175100 AD 4377 4377 APC - -
00164 FHCL3 hypercholesterolemia, familial, type 3 603776 AD - - PCSK9 - -
02476 FSGS2 glomerulosclerosis, segmental, focal, type 2 (FSGS-2) 603965 AD - - TRPC6 - -
04498 GE blood group, Gerbich (GE) 616089 - - - GYPC - -
01819 GSD1A storage disease, glycogen, type 1A (GSD-1A) 232200 AR 39 4 G6PC - -
03192 HDLCQ12 HDL cholesterol level, quantitative trait locus 12 (HDLCQ-12) 612797 - - - LIPC - -
05464 HNPCC (Lynch) cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome) - - 1602 629 EPCAM, MLH1, MLH3, MSH2, MSH6, PMS2, TGFBR2 - -
00520 HNPCC8 cancer, colorectal, nonpolyposis, hereditary, type 8 (HNPCC-8) 613244 - 70 70 EPCAM - autosomal dominant
05683 HPA hyperphenylalaninemia (HPA) - AD 37 37 GCH1, PCBD1, PTS, QDPR - -
02028 HPABH4D hyperphenylalaninemia, BH4-deficient, type D (HPABH4D) 264070 AR - - PCBD1 - -
02548 HYPT1 hypotrichosis, type 1 (HYPT-1) 605389 AD - - APCDD1 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06040 IGHD5 ?Growth hormone deficiency, isolated, type V 618160 AR - - RNPC3 - -
07160 IMD113 immunodeficiency, type 113, with autoimmunity and autoinflammation 620565 AR - - ARPC5 - -
01536 IPF fibrosis, pulmonary, idiopathic (IPF) 178500 AD 51 49 MUC5B, SFTPA1, SFTPA2, SFTPC - -
05846 KPTS Keipert syndrome (KPTS) 301026 XLR - - GPC4 - -
03787 LCCS4 contracture syndrome, lethal, congenital, type 4 (LCCS-4) 614915 AR 1 1 MYBPC1 - -
06756 LDLCQ7 [Ezetimibe, nonresponse to] 617966 - - - NPC1L1 - -
05126 LGMD dystrophy, muscular, limb-girdle (LGMD) - - 7500 3655 POPDC3, TCAP, TRAPPC11 - -
00141 LGMD2 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) - - 313 311 CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11 - -
03907 LGMDR18;LGMD2S dystrophy, muscular, limb-girdle, autosomal recessive, type 18 (LGMD2S) 615356 AR 5 2 TRAPPC11 - -
03924 LVNC10;CMD1MM ventricular noncompaction, left, type 10 (LVNC-10, cardiomyopathy, dilated, type 1MM (CMD-1MM)) 615396 AD 1 1 MYBPC3 - -
00309 MLRS malaria, susceptibility to 611162 - 3 1 CD36, CISH, CR1, DARC, FCGR2A, FCGR2B, G6PD, GYPA, GYPB, GYPC, HBB, ICAM1, NOS2, SLC4A1, TIRAP, TNF - -
06753 MMDS6 mitochondrial dysfunctions, multiple, syndrome, type 6 617954 AR - - PMPCB - -
05525 MOPD dwarfism, primordial, osteodysplastic, microcephalic (MOPD) - - 64 64 PCNT, RNU4ATAC - -
00275 MOPD2 dwarfism, primordial, osteodysplastic, microcephalic type II 210720 AR 10 9 PCNT - autosomal recessive
03717 MPYCD Mitochondrial pyruvate carrier deficiency 614741 AR - - MPC1 - -
00801 MRT13 mental retardation, autosomal recessive, type 13 613192 AR 3 3 TRAPPC9 - hypoplastic supraorbital ridges; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); no short stature (-HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, stereotypies, MRI changes (cerebral and cerebellar atrophy, thin corpus callosum, and multifocal supratentorial white matter abnormalities)
06201 MYOTREM Myopathy, congenital, with tremor 618524 AD - - MYBPC1 - -
05611 NDD neurodevelopmental disorder (NDD) - - 3539 3354 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 71 more - -
05819 NEDESBA neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) 618741 AR - - TRAPPC4 - -
07005 NEDGS neurodevelopmental disorder with poor growth and skeletal anomalies 619880 AR 1 - PCDHGC4 - -
06240 NEDMEBA Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 617862 AR - - TRAPPC6B - -
07164 NEDRSO neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction 620515 AR - - SNAPC4 - -
00151 NIDDM diabetes mellitus, type II (NIDDM) 125853 AD 8 7 ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
01583 NMTC1 cancer, thyroid, nonmedullary, type 1 (NMTC-1, papillary thyroid carcinoma) 188550 AD 1 - CCDC6, GOLGA5, NCOA4, NKX2-1, PCM1, PRKAR1A, TRIM24, TRIM33 - -
05812 NP Niemann-Pick disease (NP) - - 257 245 NPC1, SMPD1 - -
01975 NPC1 Niemann-Pick disease, type C1 257220 AR 9 8 NPC1 - -
02680 NPC2 Niemann-Pick disease, type C2 607625 AR 1 1 NPC2 - -
02325 obesity obesity with impaired prohormone processing (proprotein convertase 1/3 deficiency) 600955 AR 1 1 PCSK1 - -
01981 OMOD omodysplasia (OMOD) - - 2 2 FZD2, GPC6 - -
05844 OMOD1 omodysplasia, type 1 (OMOD1) 258315 AR - - GPC6 - -
05741 OPDM myopathy, oculopharyngodistal (OPDM) - - 60 43 GIPC1, LRP12, NOTCH2NLC, RILPL1 - -
05831 OPDM2 myopathy, oculopharyngodistal, type 2 (OPDM2) 618940 AD - - GIPC1 - -
04608 PCH3 hypoplasia, pontocerebellar?, type 3 (PCH-3) 608027 AR - - PCLO - -
02012 PCKDC deficiency, phosphoenolpyruvate carboxykinase, cytosolic (PCKDC) 261680 AR 5 5 PCK1 - -
02010 PCKDM PEPCK deficiency, Mi 261650 AR - - PCK2 - -
05585 PEBAS encephalopathy, progressive, early-onset, with brain atrophy and spasticity (PEBAS) 617669 AR - - TRAPPC12 - autosomal recessive
06314 PEERB Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 618331 AR - - TRAPPC2L - -
06746 PLTEID Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718 AR - - ARPC1B - -
00314 polyposis polyposis - - 172 164 APC - -
06489 RTS1 Rothmund-Thomson syndrome, type 1 618625 AR - - ANAPC1 - -
00054 RTS2 Rothmund-Thomson syndrome, type 2, 268400 AR 35 40 ANAPC1, RECQL4 - -
05043 SCA41 ataxia, spinocerebellar, type 41 (SCA-41) 616410 AD - - TRPC3 - -
06805 SCAR2 Spinocerebellar ataxia, autosomal recessive 2 213200 AR - - PMPCA - -
00726 SCN4 neutropenia, severe congenital, type 4, autosomal recessive (SCN-4) 612541 AR 1 - G6PC3 - -
02266 SEDT Spondyloepiphyseal dysplasia tarda 313400 XLR - - TRAPPC2 - -
05262 SGBS Simpson-Golabi-Behmel syndrome (SGBS) - - 59 59 GPC3 - -
00773 SGBS1 Simpson-Golabi-Behmel syndrome, type 1 (SGBS1) 312870 XLR 1 1 GPC3 - -
03110 SHEP10 pigmentation, skin/hair/eye, variation in, type 10 (SHEP-10) 612267 - - - TPCN2 - -
02804 SMDCRD dysplasia, spondylometaphyseal, with cone-rod dystrophy (SMDCRD) 608940 AR 14 14 PCYT1A - -
02991 SMDP2 surfactant metabolism dysfunction, pulmonary, type 2 (SMDP-2) 610913 AD 13 13 SFTPC - -
05245 SOTOS Sotos syndrome (SOTOS) - - 160 65 APC2, NFIX, NSD1 - neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation
05244 SOTOS3 Sotos syndrome, type 3 (SOTOS-3) 617169 AR - - APC2 - -
06387 SPG82 Spastic paraplegia 82, autosomal recessive 618770 AR - - PCYT2 - -
01162 SPGF6 spermatogenic failure, type 6 (SPGF-6, globozoospermia) 102530 AR 1 1 GOPC, SPATA16 - -
05983 TPFS Turnpenny-Fry syndrome (TPFS) 618371 AD - - PCGF2 - -
05415 USH Usher syndrome (USH) - - 457 455 ARSG, CDH23, CIB2, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A - -
02115 USH1 Usher syndrome, type I (USH-1) - - 644 645 CDH23, MYO7A, PCDH15, USH1C, USH1G - -
02413 USH1F Usher syndrome, type 1F (USH-1F) 602083 AR 3 3 PCDH15 - -
00774 WT1 Wilms tumor, type 1, somatic (WT-1, nephroblastoma) 194070 AD;SMu 7 7 BRCA2, GPC3, H19, WT1 - -
02135 XPC xeroderma pigmentosum, complementation group C (XPC) 278720 AR - - XPC - -
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