WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060874 isolated growth hormone deficiency type IB Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.

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:0060874 isolated growth hormone deficiency type IB An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060870 DOID:0060874
is_a DOID:4 DOID:0060874
is_a DOID:9406 DOID:0060874
is_a DOID:53 DOID:0060874
is_a DOID:28 DOID:0060874
is_a DOID:7 DOID:0060874

5 Synonyms

Name Type
congenital IGHD type IB synonym
congenital isolated GH deficiency type IB synonym
congenital isolated growth hormone deficiency type IB synonym
dwarfism of Sindh synonym
IGHD IB synonym