Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

isolated growth hormone deficiency

Synonyms

IGHD

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

ICD9CM:253.3

UMLS_CUI:C0013338

GARD:12556

NCI:C34555

ICD10CM:E23.0

ORDO:631

MESH:D004393

SNOMEDCT_US_2022_09_01:270485009

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

IGHD

non-acquired isolated growth hormone deficiency

familial isolated growth hormone deficiency

congenital isolated growth hormone deficiency

congenital isolated GH deficiency

congenital IGHD

has_obo_namespace

disease_ontology

id

DOID:0060870

in_subset

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

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

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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http://purl.bioontology.org/ontology/OMIM/MTHU017678 Online Mendelian Inheritance in Man LOOM