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DO Term : mucopolysaccharidosis type IIIA [DOID:0111395] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.

synonyms:
mucopolysaccharidosis III-A,
Sanfilippo syndrome type A,
heparan sulfamidase deficiency,
252900,
MESH:D009084,
SNOMEDCT_US_2023_03_01:254070003,
NCI:C84897,
UMLS_CUI:C0086647,
mucopolysaccharidosis type IIIA (Sanfilippo A),
ORDO:79269,
MPS3A,
ICD10CM:E76.22,
OMIM:252900,
mucopolysaccharidosis type 3A,
MPSIIIA

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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