View diseases

751 entries on 8 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes
00001 - Shprintzen-Goldberg syndrome 182212 0 0 SKI
00002 - Ehlers-Danlos syndrome, type VI 225400 0 0 PLOD1
00003 - Nevo syndrome 601451 0 0 PLOD1
00004 - Hyperphosphatasia with mental retardation syndrome 1 239300 0 0 PIGV
00005 - Schwartz-Jampel syndrome, type 1 255800 0 0 HSPG2
00006 - Dyssegmental dysplasia, Silverman-Handmaker type 224410 0 0 HSPG2
00007 - GLUT1 deficiency syndrome 1 606777 0 0 SLC2A1
00008 - GLUT1 deficiency syndrome 2 612126 0 0 SLC2A1
00009 - Dystonia 9 601042 0 0 SLC2A1
00010 - van der Woude syndrome 2 606713 0 0 WDR65
00011 - Epiphyseal dysplasia, multiple, 2 600204 0 0 COL9A2
00012 - Stickler syndrome, type V 614284 0 0 COL9A2
00013 - Meier-Gorlin syndrome 1 224690 0 0 ORC1
00014 - Stickler syndrome, type II 604841 0 0 COL11A1
00015 - Marshall syndrome 154780 0 0 COL11A1
00016 - Fibrochondrogenesis 228520 0 0 COL11A1
00017 - Colorectal cancer 114500 0 0 EP300, NRAS
00018 - Thyroid carcinoma, follicular 188470 0 0 NRAS
00019 - Autoimmune lymphoproliferative syndrome type IV 614470 0 0 NRAS
00020 - Noonan syndrome 6 613224 0 0 NRAS
00021 - Auriculocondylar syndrome 1 602483 0 0 GNAI3
00022 - Cousin syndrome 260660 0 0 TBX15
00023 - Alagille syndrome 2 610205 0 0 NOTCH2
00024 - Hajdu-Cheney syndrome 102500 0 0 NOTCH2
00025 - Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 614132 0 0 TMCO1
00026 - Martsolf syndrome 212720 0 0 RAB3GAP2
00027 - Warburg micro syndrome 2 614225 0 0 RAB3GAP2
00028 - Kenny-Caffey syndrome-1 244460 0 0 TBCE
00029 - Hypoparathyroidism-retardation-dysmorphism syndrome 241410 0 0 TBCE
00030 - Fibromatosis, gingival 135300 0 0 SOS1
00031 - Noonan syndrome 4 610733 0 0 SOS1
00032 - Pitt-Hopkins-like syndrome 2 614325 0 0 NRXN1
00033 - Wolcott-Rallison syndrome 226980 0 0 EIF2AK3
00034 - Nephronophthisis 1, juvenile 256100 0 0 NPHP1
00035 - Senior-Loken syndrome-1 266900 0 0 NPHP1
00036 - Joubert syndrome 4 609583 0 0 NPHP1
00037 - Warburg micro syndrome 1 600118 0 0 RAB3GAP1
00038 - Mowat-Wilson syndrome 235730 0 0 ZEB2
00039 - Donnai-Barrow syndrome 222448 0 0 LRP2
00040 - Myasthenic syndrome, slow-channel congenital 601462 0 0 CHRNB1, CHRND
00041 - Myasthenic syndrome, fast-channel congenital 608930 0 0 CHRND
00042 - Multiple pterygium syndrome, lethal type 253290 0 0 CHRND, CHRNG
00043 - Perlman syndrome 267000 0 0 DIS3L2
00044 - Brachydacytly-mental retardation syndrome 600430 0 0 HDAC4
00045 - Leigh syndrome 256000 0 0 DLD, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1
00046 - Noonan syndrome 5 611553 0 0 RAF1
00047 - LEOPARD syndrome 2 611554 0 0 RAF1
00048 - Robinow syndrome, autosomal dominant 180700 0 0 WNT5A
00049 - Spondylocarpotarsal synostosis syndrome 272460 0 0 FLNB
00050 - Larsen syndrome 150250 0 0 FLNB
00051 - Atelosteogenesis, type I 108720 0 0 FLNB
00052 - Atelosteogenesis, type III 108721 0 0 FLNB
00053 - Boomerang dysplasia 112310 0 0 FLNB
00054 - Joubert syndrome 8 612291 0 0 ARL13B
00055 - Adams-Oliver syndrome 1 100300 0 0 ARHGAP31
00056 - Seckel syndrome 1 210600 0 0 ATR
00057 - Cutaneous telangiectasia and cancer syndrome, familial 614564 0 0 ATR
00058 - Seckel syndrome 6 614728 0 0 CEP63
00059 - Fanconi-Bickel syndrome 227810 0 0 SLC2A2
00060 - Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 0 0 TP63
00061 - Split-hand/foot malformation 4 605289 0 0 TP63
00062 - Hay-Wells syndrome 106260 0 0 TP63
00063 - ADULT syndrome 103285 0 0 TP63
00064 - Limb-mammary syndrome 603543 0 0 TP63
00065 - Rapp-Hodgkin syndrome 129400 0 0 TP63
00072 - 3MC syndrome 1 257920 0 0 MASP1
00073 - RIDDLE syndrome 611943 0 0 RNF168
00074 - Achondroplasia 100800 0 0 FGFR3
00075 - Hypochondroplasia 146000 0 0 FGFR3
00076 - Thanatophoric dysplasia, type I 187600 0 0 FGFR3
00077 - Crouzon syndrome with acanthosis nigricans 612247 0 0 FGFR3
00078 - Muenke syndrome 602849 0 0 FGFR3
00079 - Bladder cancer, somatic 109800 0 0 FGFR3, KRAS
00081 - Cervical cancer, somatic 603956 0 0 FGFR3
00082 - LADD syndrome 149730 0 0 FGF10, FGFR2, FGFR3
00083 - CATSHL syndrome 610474 0 0 FGFR3
00084 - Nevus, epidermal, somatic 162900 0 0 FGFR3, HRAS
00085 - Thanatophoric dysplasia, type II 187601 0 0 FGFR3
00086 - Spermatocytic seminoma, somatic 273300 0 0 FGFR3
00087 - Tooth agenesis, selective, 1, with or without orofacial cleft 106600 0 0 MSX1
00088 - Witkop syndrome 189500 0 0 MSX1
00089 - Orofacial cleft 5 608874 0 0 MSX1
00090 - Ellis-van Creveld syndrome 225500 0 0 EVC, EVC2
00091 - Weyers acrodental dysostosis 193530 0 0 EVC
00092 - Joubert syndrome 9 612285 0 0 CC2D2A
00093 - Meckel syndrome 6 612284 0 0 CC2D2A
00094 - COACH syndrome 216360 0 0 CC2D2A, RPGRIP1L, TMEM67
00095 - Fraser syndrome 219000 0 0 FRAS1, FREM2
00097 - Mitochondrial respiratory chain complex II deficiency 252011 0 0 SDHA
00098 - Cardiomyopathy, dilated, 1GG 613642 0 0 SDHA
00099 - Paragangliomas 5 614165 0 0 SDHA
00100 - Joubert syndrome 17 614615 0 0 C5orf42
00101 - Cornelia de Lange syndrome 1 122470 0 0 NIPBL
00103 - Mitochondrial complex I deficiency 252010 0 0 FOXRED1, NDUFS4
00104 - Cockayne syndrome, type A 216400 0 0 ERCC8
00105 - UV-sensitive syndrome 2 614621 0 0 ERCC8
00106 - Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 613443 0 0 MEF2C
00108 - D-bifunctional protein deficiency 261515 0 0 HSD17B4
00109 - Perrault syndrome 233400 0 0 HSD17B4
00110 - Treacher Collins syndrome 1 154500 0 0 TCOF1
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