Cataract 42 - CISMeF

Preferred Label : Cataract 42;

Symbol : CTRCT42;

CISMeF acronym : CTRCT42;

Type : Phenotype, molecular basis known;

Description : Transmission of floriform cataract was recorded through 4 generations by Doggart (1957) and through 5 generations by Tosch (1958). *FIELD* RF 1. Doggart, J. H.: Congenital cataract. Trans. Ophthal. Soc. U.K. 77: 31-37, 1957. 2. Tosch, C.: Beitrag zur Stammbaumforschung der Cataracta floriformis. Klin. Monatsbl. Augenheilkd. 133: 60-66, 1958. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-A2 crystallin gene (CRYBA2, 600836.0001);

Prefixed ID : #115900;

Détails

Origin ID

115900;

UMLS CUI

C4011454;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 42 [DO Concept]
- cataract, floriform [MeSH concept]
- cataract, floriform [MeSH Supplementary Concept]
DO Cross reference
- cataract 42 [DO Concept]
Genes related to phenotype
- Crystallin, beta-a2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Glaucoma [HPO term]
- Myopia [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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