mucolipidosis III gamma

Preferred Label : mucolipidosis III gamma;

MeSH note : Results from mutation in gene for gamma subunit of N-acetylglucosamine-1-phosphotransferase (GNPTG);

MeSH synonym : mucolipidosis III, iranian variant form; mucolipidosis IIIC; mucolipidosis III, complementation group C; mucolipidosis III, variant form;

Details

Origin ID

C565367;

UMLS CUI

C1854896;

Currated CISMeF NLP mapping
- Mucolipidosis III gamma [OMIM Phenotype]
- Mucolipidosis Type III Gamma [NCIt concept]
- Mucolipidosis type III gamma [ORDO Disease]
- mucolipidosis III gamma [DO Concept]
MeSH term(s) associated for indexing
- mucolipidoses [MeSH Descriptor]
Record concept(s)
- mucolipidosis III gamma [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucolipidosis III gamma [OMIM Phenotype]
- Mucolipidosis Type III Gamma [NCIt concept]
- Mucolipidosis type III gamma [ORDO Disease]

Keyword's position in hierarchy(ies) :

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