Mucolipidosis Type III Gamma

Preferred Label : Mucolipidosis Type III Gamma;

NCIt synonyms : Mucolipidosis III Gamma;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the GNPTAG gene, encoding N-acetylglucosamine-1-phosphotransferase subunit gamma. It is characterized by a slowing of the growth rate in childhood, joint stiffness, mild cognitive impairment, and cardiorespiratory insufficiency.;

Details

Origin ID

C129978;

UMLS CUI

C1854896;

Currated CISMeF NLP mapping
- Mucolipidosis III gamma [OMIM Phenotype]
- Mucolipidosis type III gamma [ORDO Disease]
- mucolipidosis III gamma [MeSH concept]
- mucolipidosis III gamma [MeSH Supplementary Concept]
- mucolipidosis III gamma [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucolipidosis III gamma [OMIM Phenotype]
- Mucolipidosis type III gamma [ORDO Disease]
- mucolipidosis III gamma [MeSH Supplementary Concept]
- mucolipidosis III gamma [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GNPTG Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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