Cataract 13 with adult I phenotype

Preferred Label : Cataract 13 with adult I phenotype;

Symbol : CTRCT13;

CISMeF acronym : CTRCT13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glucosaminyl (N-acetyl) transferase 2, I-branching enzyme gene (GCNT2, 600429.0001);

Prefixed ID : #116700;

Détails

Origin ID

116700;

UMLS CUI

C3805373;

Automatic exact mappings (from CISMeF team)
- Chief Complaint [NCIt concept]
- Cholangiocarcinoma [NCIt concept]
- Early-onset non-syndromic cataract [ORDO Disease]
- Milliliter [NCIt concept]
- Milliliter (qualifier value) [SNOMED CT concept]
- capsanthin synthase activity [GO term]
- capsorubin synthase activity [GO term]
- obsolete capsanthin/capsorubin synthase activity [GO term]
Currated CISMeF NLP mapping
- cataract 13 with adult i phenotype [DO Concept]
DO Cross reference
- cataract 13 with adult i phenotype [DO Concept]
False automatic mappings
- Cocos (Keeling) Islands [NCIt concept]
Genes related to phenotype
- Glucosaminyl (n-acetyl) transferase 2, I-branching enzyme [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Developmental cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
See also inter- (CISMeF)
- Congenital total cataract (disorder) [SNOMED CT concept]
- Total congenital cataract [ICD-11 More detail]
- Total early-onset cataract [ORDO Disease]
- congenital total cataract [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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