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DO Term : mucopolysaccharidosis type IIID [DOID:0111402] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.

synonyms:
MPS3D,
GARD:7074,
ICD10CM:E76.22,
Mucopolysaccharidosis type 3D,
NCI:C84900,
SNOMEDCT_US_2023_03_01:15892005,
N-acetylglucosamine-6-sulfatase deficiency,
MPS IIID,
ORDO:79272,
MESH:D009084,
Sanfilippo syndrome type D,
GNS deficiency,
UMLS_CUI:C0086650,
OMIM:252940,
252940,
Sanfilippo syndrome D

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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