Cataract 44 - CISMeF

Preferred Label : Cataract 44;

Symbol : CTRCT44;

CISMeF acronym : CTRCT44;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract 44 and hypotrichosis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lanosterol synthase gene (LSS, 600909.0001);

Prefixed ID : #616509;

Details

Origin ID

616509;

UMLS CUI

C4225300;

Currated CISMeF NLP mapping
- cataract 44 [DO Concept]
DO Cross reference
- cataract 44 [DO Concept]
Genes related to phenotype
- Lanosterol synthase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Developmental cataract [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
- Total early-onset cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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