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DO Term : mucopolysaccharidosis type IIIC [DOID:0111393] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.

synonyms:
Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency,
SNOMEDCT_US_2023_03_01:75238000,
GARD:7073,
Heparan-alpha-glucosaminide N-acetyltransferase deficiency,
252930,
Sanfilippo syndrome type C,
OMIM:252930,
MPSIIIC,
NCI:C84899,
ORDO:79271,
HGSNAT deficiency,
UMLS_CUI:C0086649,
Mucopolysaccharidosis type 3C,
MESH:D009084,
mucopolysaccharidosis type IIIC (Sanfilippo C),
ICD10CM:E76.22,
MPS3C

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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