WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111041 glycogen storage disease IXb Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.
Paste the following link
Lists
This DiseaseOntology isn't in any lists. Upload a list.

1 Ontology

Name
Disease Ontology

9 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: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:2747 glycogen storage disease A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
DOID:0050728 glycogen metabolism disorder A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
DOID:0050594 glycogen storage disease IX A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.
DOID:0111041 glycogen storage disease IXb A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.

8 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0050594 DOID:0111041
is_a DOID:2747 DOID:0111041
is_a DOID:2978 DOID:0111041
is_a DOID:655 DOID:0111041
is_a DOID:0050728 DOID:0111041
is_a DOID:0014667 DOID:0111041
is_a DOID:4 DOID:0111041
is_a DOID:630 DOID:0111041

10 Synonyms

Name Type
glycogen storage disease type 9B synonym
glycogen storage disease type IXb synonym
glycogenosis due to liver and muscle phosphorylase kinase deficiency synonym
glycogenosis type 9B synonym
glycogenosis type IXb synonym
GSD due to liver and muscle phosphorylase kinase deficiency synonym
GSD IXb synonym
GSD type 9B synonym
GSD type IXb synonym
GSD9B synonym