Edict syndrome

Preferred Label : Edict syndrome;

Symbol : EDICT;

CISMeF acronym : KTCNCT; EDICT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : KTCNCT; Keratoconus with cataract; Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome; Keratoconus, familial, with early-onset anterior polar cataract;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in microRNA 184 gene (MIR184, 613146.0001);

Prefixed ID : #614303;

Details

Origin ID

614303;

UMLS CUI

C3280392;

Currated CISMeF NLP mapping
- EDICT syndrome [ORDO Disease]
- Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Micro rna 184 [OMIM gene]
HPO term(s)
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Hypoplasia of the iris [HPO term]
- Keratoconus [HPO term]
- Microcornea [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- EDICT syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EDICT syndrome [ORDO Disease]
- Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) [SNOMED CT concept]

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