WormMine: DiseaseOntology DOID:0060872 isolated growth hormone deficiency type II Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.

1 Ontology

• Name: Disease Ontology

7 Parents

Identifier	Name	Description
DOID:7	disease of anatomical entity	A disease that manifests in a defined anatomical structure.
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:28	endocrine system disease	A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
DOID:9406	hypopituitarism	A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
DOID:0060870	isolated growth hormone deficiency	A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.
DOID:53	pituitary gland disease	An endocrine system disease that is located_in the pituitary gland.
DOID:0060872	isolated growth hormone deficiency type II	An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.

6 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0060870	DOID:0060872
is_a	DOID:9406	DOID:0060872
is_a	DOID:28	DOID:0060872
is_a	DOID:4	DOID:0060872
is_a	DOID:53	DOID:0060872
is_a	DOID:7	DOID:0060872

6 Synonyms

• Name: congenital isolated growth hormone deficiency type II
• Type: synonym

• Name: IGHD II
• Type: synonym

• Name: autosomal dominant isolated growth hormone deficiency
• Type: synonym

• Name: autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
• Type: synonym

• Name: congenital IGHD type II
• Type: synonym

• Name: congenital isolated GH deficiency type II
• Type: synonym