WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060873 isolated growth hormone deficiency type IA Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null 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:0060873 isolated growth hormone deficiency type IA An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.

6 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060870 DOID:0060873
is_a DOID:4 DOID:0060873
is_a DOID:9406 DOID:0060873
is_a DOID:53 DOID:0060873
is_a DOID:28 DOID:0060873
is_a DOID:7 DOID:0060873

6 Synonyms

Name Type
autosomal recessive isolated growth hormone deficiency synonym
IGHD IA synonym
Illig-type growth hormone deficiency synonym
pituitary dwarfism I synonym
primordial dwarfism synonym
sexual ateleiotic dwarfism synonym