WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:12801 mucopolysaccharidosis III Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.

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:12801 mucopolysaccharidosis III A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:12801 DOID:0111393
is_a DOID:12801 DOID:0111394
is_a DOID:12801 DOID:0111395
is_a DOID:12801 DOID:0111402
is_a DOID:12798 DOID:12801
is_a DOID:630 DOID:12801
is_a DOID:655 DOID:12801
is_a DOID:3211 DOID:12801
is_a DOID:0014667 DOID:12801
is_a DOID:4 DOID:12801

7 Synonyms

Name Type
heparan sulfate sulfatase deficiency synonym
Mucopolysaccharidosis, MPS-III synonym
N-sulphoglucosamine sulphohydrolase deficiency synonym
naglu deficiency synonym
Sanfilippo's syndrome synonym
DOID:14729 alt_id
DOID:14788 alt_id