Inosine phosphorylase deficiency, immune defect due to

Preferred Label : Inosine phosphorylase deficiency, immune defect due to;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 243080;

Details

Origin ID

243080;

UMLS CUI

C1855737;

Currated CISMeF NLP mapping
- inosine phosphorylase deficiency, immune defect due to [MeSH concept]
- inosine phosphorylase deficiency, immune defect due to [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the immune system [HPO term]
- Autosomal recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- inosine phosphorylase deficiency, immune defect due to [MeSH Supplementary Concept]
- inosine phosphorylase deficiency, immune defect due to [MeSH concept]

Keyword's position in hierarchy(ies) :

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