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DO Term : mucopolysaccharidosis IV [DOID:12804] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.

synonyms:
deficiency of N-acetylgalactosamine-6-sulphatase,
MESH:D009085,
DOID:0050808,
ICD10CM:E76.219,
deficiency of chondroitinsulphatase,
DOID:14767,
UMLS_CUI:C0026707,
Mucopolysaccharidosis, MPS-IV,
SNOMEDCT_US_2023_03_01:378007,
Osteochondrodystrophy,
galactosamine-6-sulfatase deficiency,
NCI:C61263,
chondroosteodystrophy

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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