WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060991 congenital disorder of deglycosylation Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins.

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 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: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:2978 carbohydrate metabolic disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
DOID:0060991 congenital disorder of deglycosylation A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060991 DOID:0060728
is_a DOID:0060991 DOID:0060990
is_a DOID:2978 DOID:0060991
is_a DOID:4 DOID:0060991
is_a DOID:0014667 DOID:0060991
is_a DOID:630 DOID:0060991
is_a DOID:655 DOID:0060991

0 Synonyms