krabbe disease, atypical, due to saposin A deficiency

Preferred Label : krabbe disease, atypical, due to saposin A deficiency;

MeSH note : mutation in prosaposin;

MeSH synonym : saposin A deficiency;

Détails

Origin ID

C567097;

UMLS CUI

C2673266;

Currated CISMeF NLP mapping
- Krabbe disease, atypical, due to saposin a deficiency [OMIM Phenotype]
MeSH term(s) associated for indexing
- leukodystrophy, globoid cell [MeSH Descriptor]
- saposins [MeSH Descriptor]
Record concept(s)
- krabbe disease, atypical, due to saposin A deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Krabbe disease, atypical, due to saposin a deficiency [OMIM Phenotype]

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