MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:4025
Name:EDICT SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D002386|MESH:D003317|MESH:D007499
TreeNumbers:C11.204.236/614303 |C11.270.162/614303 |C11.510.245/614303 |C11.941.375/614303 |C16.320.290.162/614303
Synonyms:EDICT |ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME |KERATOCONUS, FAMILIAL, WITH EARLY-ONSET ANTERIOR POLAR CATARACT |KERATOCONUS WITH CATARACT |KTCNCT
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: 614303
MeSH: 614303
OMIM: 614303;
MSeqDR LSDB:  
Genes: MIR184;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000483Astigmatism
3 HP:0000519Congenital cataract
4 HP:0007676Hypoplasia of the iris
5 HP:0000563KeratoconusHP:0040283
6 HP:0000482Microcornea
7 HP:0007663Reduced visual acuity
8 HP:0000505Visual impairment
Disease Causing ClinVar Variants
MSeqDR Portal