Chitotriosidase deficiency

Preferred Label : Chitotriosidase deficiency;

Symbol : CHITD;

CISMeF acronym : CHITD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chitotriosidase gene (CHIT, 600031.0001);

Laboratory abnormalities : No detectable chitotriosidase activity;

Prefixed ID : #614122;

Details

Origin ID

614122;

UMLS CUI

C3279902;

Automatic exact mappings (from CISMeF team)
- CHIT1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- chitotriosidase deficiency [Disease (Nov.)]
Genes related to phenotype
- Chitinase 1 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- chitotriosidase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients