WormMine: DiseaseOntology DOID:3413 alpha-mannosidosis Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.

1 Ontology

• Name: Disease Ontology

6 Parents

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:3211	lysosomal storage disease	An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:3413	alpha-mannosidosis	A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.

5 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:3211	DOID:3413
is_a	DOID:630	DOID:3413
is_a	DOID:0014667	DOID:3413
is_a	DOID:4	DOID:3413
is_a	DOID:655	DOID:3413

3 Synonyms

• Name: Alpha-D-mannosidosis
• Type: synonym

• Name: alpha-mannosidase deficiency
• Type: synonym

• Name: deficiency of alpha-mannosidase
• Type: synonym