Preferred Label : Wolman Disease;
NCIt related terms : Wolman's Disease; Lysosomal Acid Lipase Deficiency;
NCIt definition : A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations
in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay,
vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea,
and calcification of the adrenal glands.;
Alternative definition : NICHD: An autosomal recessive condition caused by mutation(s) in the LIPA gene, resulting
in lysosomal acid lipase deficiency, which leads to accumulation of cholesterol esters
and triglycerides in many organs.;
Origin ID : C61271;
UMLS CUI : C0043208;
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
- concept_is_in_subset
- disease_has_finding
- disease_mapped_to_gene