Cataract 36 - CISMeF

Preferred Label : Cataract 36;

Symbol : CTRCT36;

CISMeF acronym : CATC4; CTRCT36;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, autosomal recessive congenital 4; CATC4;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tudor domain-containing protein 7 gene (TDRD7, 611258.0001);

Prefixed ID : #613887;

Détails

Origin ID

613887;

UMLS CUI

C3151304;

Currated CISMeF NLP mapping
- cataract 36 [DO Concept]
DO Cross reference
- cataract 36 [DO Concept]
Genes related to phenotype
- Tudor domain-containing protein 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 36 [DO Concept]

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

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