Mucolipidosis Type IIIA

Preferred Label : Mucolipidosis Type IIIA;

NCIt definition : A lysosomal storage disease characterized by multiple bone formation abnormalities, progressive joint stiffness, developmental abnormalities, hearing loss, hepatosplenomegaly, increased acne, enlarged tongue, and cornea clouding due to accumulation of lipid substances.;

Details

Origin ID

C125595;

UMLS CUI

C4086611;

Automatic exact mappings (from CISMeF team)
- mucolipidosis type 3 A [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GNPTAB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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