Wolman disease

Preferred Label : Wolman disease;

Symbol : WOLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lysosomal acid lipase deficiency, complete; Cholesterol ester hydrolase deficiency, complete; Lal deficiency, complete; Lipa deficiency, complete; Lysosomal acid lipase deficiency, acute infantile;

Prefixed ID : #620151;

Details

Origin ID

620151;

UMLS CUI

C0043208;

Genes related to phenotype
- Lipase a, lysosomal acid [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wolman Disease [NCIt concept]
- Wolman disease [ICD-11 More detail]
- Wolman disease [DO Concept]
- Wolman disease [Disease (Nov.)]
- Wolman disease [ORDO Disease]
- Wolman's disease [MedDRA LLT]
- Wolman's disease (disorder) [SNOMED CT concept]
- acid lipase deficiency, nos [SNOMED Notion]
- wolman disease [MeSH concept]
- wolman disease [MeSH Descriptor]
- wolman disease with hypolipoproteinemia and acanthocytosis [MeSH Supplementary Concept]
- wolman's disease [MedDRA Preferred Term]
- wolman's disease [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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