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DO Term : glycoproteinosis [DOID:3343] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).

synonyms:
256550,
MESH:D009081,
SNOMEDCT_US_2023_03_01:70528007,
Mucolipidosis type I,
OMIM:256550,
sialidosis,
UMLS_CUI:C0026697,
NCI:C61267,
GARD:10670

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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