Cataract 18 - CISMeF

Preferred Label : Cataract 18;

Symbol : CTRCT18;

CISMeF acronym : CATC2; CTRCT18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, autosomal recessive congenital 2; CATC2;

Description : Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear. The preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.';

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fyve and coiled-coil domain containing-1 gene (FYCO1, 607182.0001);

Prefixed ID : #610019;

Details

Origin ID

610019;

UMLS CUI

C1864908;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset nuclear cataract [ORDO Disease]
Currated CISMeF NLP mapping
- Cataract, autosomal recessive congenital 2 [MeSH concept]
- cataract 18 [DO Concept]
- cataract, autosomal recessive congenital 2 [MeSH Supplementary Concept]
DO Cross reference
- cataract 18 [DO Concept]
Genes related to phenotype
- Fyve and coiled-coil domain containing 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset nuclear cataract [ORDO Disease]
- Early-onset partial cataract [ORDO Disease]
- Early-onset zonular cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract, autosomal recessive congenital 2 [MeSH concept]
- cataract 18 [DO Concept]
- cataract, autosomal recessive congenital 2 [MeSH Supplementary Concept]

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