Leber congenital amaurosis 16

Preferred Label : Leber congenital amaurosis 16;

Symbol : LCA16;

CISMeF acronym : LCA16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium inwardly-rectifying channel, subfamily J, member 13 gene (KCNJ13, 603208.0002);

Prefixed ID : #614186;

Détails

Origin ID

614186;

UMLS CUI

C3280062;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
- potassium inwardly rectifying channel subfamily J member 13 [ORDO Gene]
- potassium inwardly rectifying channel subfamily J member 13 [HGNC gene]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 16 [DO Concept]
DO Cross reference
- Leber congenital amaurosis 16 [DO Concept]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 13 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Strabismus [HPO term]
- Visual impairment [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 16 [DO Concept]

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

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