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 ID
|

 Abbreviation
|

 Name
|

 OMIM ID
|

 Individuals
|

 Phenotypes
|
 Associated with genes
|
 Associated tissues
|
 Disease features
|
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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