WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:12803 mucopolysaccharidosis type VII Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.

1 Ontology

Name
Disease Ontology

7 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 involves 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:12798 mucopolysaccharidosis A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
DOID:12803 mucopolysaccharidosis type VII A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:12798 DOID:12803
is_a DOID:3211 DOID:12803
is_a DOID:630 DOID:12803
is_a DOID:0014667 DOID:12803
is_a DOID:4 DOID:12803
is_a DOID:655 DOID:12803

5 Synonyms

Name Type
beta-glucuronidase deficiency synonym
deficiency of beta-glucuronidase synonym
MPS VII - Sly syndrome synonym
mucopolysaccharidosis VII synonym
Sly syndrome synonym