Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

isolated growth hormone deficiency
Synonyms

familial isolated growth hormone deficiency

IGHD

congenital isolated growth hormone deficiency

congenital IGHD

non-acquired isolated growth hormone deficiency

congenital isolated GH deficiency

Definitions

A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.

ID

http://purl.obolibrary.org/obo/DOID_0060870

database_cross_reference

UMLS_CUI:C0013338

MESH:D004393

ICD9CM:253.3

ICD10CM:E23.0

SNOMEDCT_US_2023_03_01:270485009

GARD:12556

NCI:C34555

ORDO:631

definition

A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.

has exact synonym

familial isolated growth hormone deficiency

IGHD

congenital isolated growth hormone deficiency

congenital IGHD

non-acquired isolated growth hormone deficiency

congenital isolated GH deficiency

has_obo_namespace

disease_ontology

id

DOID:0060870

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

isolated growth hormone deficiency

notation

DOID:0060870

prefLabel

isolated growth hormone deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_9406

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