Leber congenital amaurosis 17

Preferred Label : Leber congenital amaurosis 17;

Symbol : LCA17;

CISMeF acronym : LCA17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gene encoding growth/differentiation factor-g (GDF6, 601147.0001);

Prefixed ID : #615360;

Details

Origin ID

615360;

UMLS CUI

C3715164;

Currated CISMeF NLP mapping
- Leber congenital amaurosis 17 [DO Concept]
DO Cross reference
- Leber congenital amaurosis 17 [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Ultra-low vision with retained motion projection [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 17 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients