WormMine: DiseaseOntology DOID:0111040 glycogen storage disease IXd Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.

1 Ontology

• Name: Disease Ontology

12 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:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
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:0050735	X-linked monogenic disease	A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0080012	X-linked recessive disease	A X-linked monogenic disease that has_material_basis_in recessive inheritance.
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:0111040	glycogen storage disease IXd	A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.

11 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0050594	DOID:0111040
is_a	DOID:0080012	DOID:0111040
is_a	DOID:655	DOID:0111040
is_a	DOID:4	DOID:0111040
is_a	DOID:0050177	DOID:0111040
is_a	DOID:0014667	DOID:0111040
is_a	DOID:2747	DOID:0111040
is_a	DOID:2978	DOID:0111040
is_a	DOID:0050735	DOID:0111040
is_a	DOID:0050728	DOID:0111040
is_a	DOID:630	DOID:0111040

19 Synonyms

• Name: glycogen storage disease due to muscle phosphorylase kinase deficiency
• Type: synonym

• Name: glycogen storage disease type 9D
• Type: synonym

• Name: glycogen storage disease type 9E
• Type: synonym

• Name: glycogen storage disease type IXd
• Type: synonym

• Name: glycogen storage disease type IXe
• Type: synonym

• Name: glycogenosis due to muscle phosphorylase kinase deficiency
• Type: synonym

• Name: glycogenosis type 9D
• Type: synonym

• Name: glycogenosis type 9E
• Type: synonym

• Name: glycogenosis type IXd
• Type: synonym

• Name: glycogenosis type IXe
• Type: synonym

• Name: GSD due to muscle phosphorylase kinase deficiency
• Type: synonym

• Name: GSD IXd
• Type: synonym

• Name: GSD type 9D
• Type: synonym

• Name: GSD type 9E
• Type: synonym

• Name: GSD type IXd
• Type: synonym

• Name: GSD type IXe
• Type: synonym

• Name: GSD9D
• Type: synonym

• Name: muscle phosphorylase kinase deficiency
• Type: synonym

• Name: X-linked muscke glycogenosis
• Type: synonym