WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:3211 lysosomal storage disease Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

1 Ontology

Name
Disease Ontology

5 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.

97 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:3211 DOID:0050437
is_a DOID:3211 DOID:0050441
is_a DOID:3211 DOID:0050461
is_a DOID:3211 DOID:0050464
is_a DOID:3211 DOID:0050729
is_a DOID:3211 DOID:0050809
is_a DOID:3211 DOID:0060222
is_a DOID:3211 DOID:0070111
is_a DOID:3211 DOID:0070112
is_a DOID:3211 DOID:0070113
is_a DOID:3211 DOID:0070114
is_a DOID:3211 DOID:0070508
is_a DOID:3211 DOID:0080070
is_a DOID:3211 DOID:0080071
is_a DOID:3211 DOID:0080208
is_a DOID:3211 DOID:0080217
is_a DOID:3211 DOID:0080488
is_a DOID:3211 DOID:0080489
is_a DOID:3211 DOID:0080490
is_a DOID:3211 DOID:0080501
is_a DOID:3211 DOID:0080502
is_a DOID:3211 DOID:0080540
is_a DOID:3211 DOID:0080546
is_a DOID:3211 DOID:0080547
is_a DOID:3211 DOID:0080678
is_a DOID:3211 DOID:0081273
is_a DOID:3211 DOID:0110720
is_a DOID:3211 DOID:0110721
is_a DOID:3211 DOID:0110722
is_a DOID:3211 DOID:0110723

3 Synonyms

Name Type
lysosomal storage metabolism disorder synonym
disorder of lysosomal enzyme synonym
inborn lysosomal enzyme disorder synonym