Leber congenital amaurosis 5

Preferred Label : Leber congenital amaurosis 5;

Symbol : LCA5;

CISMeF acronym : LCA5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lebercilin gene (LCA5, 611408.0001);

Prefixed ID : #604537;

Détails

Origin ID

604537;

UMLS CUI

C1858301;

Broader ORDO disease(s)
- Leber congenital amaurosis [ORDO Disease]
Currated CISMeF NLP mapping
- Amaurosis congenita of Leber, type 5 [MeSH concept]
- Leber congenital amaurosis 5 [DO Concept]
- amaurosis congenita of leber, type 5 [MeSH Supplementary Concept]
- lebercilin LCA5 [ORDO Gene]
DO Cross reference
- Leber congenital amaurosis 5 [DO Concept]
Genes related to phenotype
- Leberilin lca5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- High hypermetropia [HPO term]
- Hypermetropia [HPO term]
- Infantile onset [HPO term]
- Nystagmus [HPO term]
- Undetectable electroretinogram [HPO term]
- Visual impairment [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amaurosis congenita of Leber, type 5 [MeSH concept]
- Leber congenital amaurosis 5 [DO Concept]
- amaurosis congenita of leber, type 5 [MeSH Supplementary Concept]
- lebercilin LCA5 [ORDO Gene]

Position du mot-clé dans l'(les) arborescence(s) :

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