Retinal aplasia

Preferred Label : Retinal aplasia;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Amaurosis congenita;

Inheritance : Autosomal dominant form; genetic heterogeneity;

Prefixed ID : %179900;

Details

Origin ID

179900;

UMLS CUI

C1867331;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
Currated CISMeF NLP mapping
- retinal aplasia [MeSH concept]
- retinal aplasia [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital blindness [HPO term]
- Heterogeneous [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinal aplasia [MeSH Supplementary Concept]
- retinal aplasia [MeSH concept]

Keyword's position in hierarchy(ies) :

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