Cataract 38 - CISMeF

Preferred Label : Cataract 38;

Symbol : CTRCT38;

CISMeF acronym : CATC5; CTRCT38;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, autosomal recessive congenital 5; CATC5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acylglycerol kinase gene (AGK, 610345.0010);

Prefixed ID : #614691;

Détails

Origin ID

614691;

UMLS CUI

C3553494;

Currated CISMeF NLP mapping
- cataract 38 [DO Concept]
DO Cross reference
- cataract 38 [DO Concept]
Genes related to phenotype
- Acylglycerol kinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Developmental cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 38 [DO Concept]

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

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