Deoxyribose-5-phosphate aldolase deficiency

Preferred Label : Deoxyribose-5-phosphate aldolase deficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive vs. X-linked recessive;

Prefixed ID : 125460;

Details

Origin ID

125460;

UMLS CUI

C1852200;

Currated CISMeF NLP mapping
- Deoxyribose-5-Phosphate aldolase deficiency [MeSH concept]
- Deoxyribose-5-Phosphate aldolase deficiency [MeSH Supplementary Concept]
HPO term(s)
- Abnormal enzyme/coenzyme activity [HPO term]
- Autosomal recessive inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deoxyribose-5-Phosphate aldolase deficiency [MeSH Supplementary Concept]
- Deoxyribose-5-Phosphate aldolase deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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