About: isolated growth hormone deficiency

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: isolated growth hormone deficiency Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

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

Attributes	Values
rdf:type	Item
owl:sameAs	isolated growth hormone deficiency
description	hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones (en)
exact match	wds:Q32136616-8E56D943-8EBB-4A4A-85C1-EE0997831D83 wds:Q32136616-B429E7C8-37D0-40F1-B14D-89D3B3072AF3
exact match	http://purl.obolibrary.org/obo/DOID_0060870 http://identifiers.org/doid/DOID:0060870
Experimental Factor Ontology ID	wds:Q32136616-F89982FA-244A-4D22-9766-F95E1BDFF185
Mondo ID	wds:Q32136616-3772DED1-0A61-440A-8834-39A338A73509
Disease Ontology ID	wds:Q32136616-9EE7D2B4-5199-4C07-B343-CA40C356D818
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0000050
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060870
Experimental Factor Ontology ID	1001109
Mondo ID	MONDO_0000050
Disease Ontology ID	DOID:0060870
rdfs:label	déficit isolé en hormone de croissance (fr) isolated growth hormone deficiency (en)
skos:prefLabel	déficit isolé en hormone de croissance (fr) isolated growth hormone deficiency (en)
name	déficit isolé en hormone de croissance (fr) isolated growth hormone deficiency (en)
instance of	wds:Q32136616-D4FF83E6-D7CE-4DFD-BC62-D2A1B0BB8112 wds:Q32136616-FFC67DA3-CC81-4825-BE41-1E857F866030
instance of	class of disease rare disease
subclass of	wds:Q32136616-08C26D90-672B-4D0D-88BD-560E0BE50188 wds:Q32136616-a098432e-4293-064e-a0ac-a701bb0bb445
subclass of	growth hormone deficiency hypopituitarism
KEGG ID	wds:Q32136616-221D3527-DA40-4F4D-865B-D5D8673883A1
KEGG ID	http://www.kegg.jp/entry/H02035
KEGG ID	H02035
Orphanet ID	wds:Q32136616-680A7904-CABF-44C9-8D87-A36AFBDA4537 wds:Q32136616-784A848D-7320-412B-95B0-64CEA54A36A8
ICD-9-CM	wds:Q32136616-D49E12ED-0F4E-4593-80C0-85A80158BEB3
genetic association	wds:Q32136616-94149066-75FB-43BF-BE5D-9B6ADE1914C7 wds:Q32136616-9716B097-19F5-4E29-9A78-44AD39557A76 wds:Q32136616-E50B67EC-4245-4509-9D63-4FD1B455BC88
ICD-10-CM	wds:Q32136616-2259C7CC-DC8B-464F-AC61-C0A23A3D55F6
GARD rare disease ID	wds:Q32136616-B5BD6362-0DA5-4E5D-B589-6CF5ED2D8ACA
Orphanet ID	631
ICD-9-CM	253.3
genetic association	GH1 SOX3 BTK
ICD-10-CM	E23.0
GARD rare disease ID	12556
skos:altLabel	IGHD (en) congenital IGHD (en) congenital isolated GH deficiency (en) congenital isolated growth hormone deficiency (en) familial isolated growth hormone deficiency (en) non-acquired isolated growth hormone deficiency (en)
NCI Thesaurus ID	wds:Q32136616-8717C84E-7858-467B-9C37-B7DFBE36DF3E
UMLS CUI	wds:Q32136616-49494187-8402-49EE-8979-02072C5674AB wds:Q32136616-4FF2534F-637E-4451-9C29-96D6E4FB9325 wds:Q32136616-733718DD-896B-4599-8650-B93895BEFEB9 wds:Q32136616-BD759B6B-9872-49D9-A357-1FCF1848D150
on focus list of Wikimedia project	wds:Q32136616-8099EF4D-C450-41C0-BB71-AF32FCC3B002
NCI Thesaurus ID	C34555
UMLS CUI	C0013338 C0271561 C5679572
on focus list of Wikimedia project	WikiProject Medicine
is about of	isolated growth hormone deficiency https://www.wikidata.org/wiki/Special:EntityData/Q32136616 Isolated growth hormone deficiency
is subclass of of	isolated growth hormone deficiency type II isolated growth hormone deficiency type IA isolated growth hormone deficiency type III isolated growth hormone deficiency type IB
is subclass of of	wds:Q32136641-2D3B8246-0B67-4D4D-9496-BF0C670218EA wds:Q32136664-CD8C60C1-82AD-4B53-B375-9F2B668EB1CF wds:Q32136630-2142C9A8-9D59-472A-8C6E-66C2551F07B6 wds:Q32136653-D0B84F44-417F-4B5A-8BA6-5963A5D64FDB
is main subject of	Isolated growth hormone deficiency: analysis of the growth hormone (GH)-releasing hormone gene and the GH gene cluster Phenotypic Heterogeneity in Familial Isolated Growth Hormone Deficiency Type I-A* Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). Fanconi's anemia with isolated growth hormone deficiency Typical cases of isolated growth hormone deficiency with autosomal recessive inheritance Long-term mortality after recombinant growth hormone treatment for isolated growth hormone deficiency or childhood short stature: preliminary report of the French SAGhE study. Effect of human growth hormone therapy on penile and testicular size in boys with isolated growth hormone deficiency: first year of treatment. Plasma Growth Hormone, Insulin, and Glucagon Responses to Arginine Infusion in Children and Adolescents with Idiopathic Short Stature, Isolated Growth Hormone Deficiency, Panhypopituitarism, and Anorexia Nervosa Isolated growth hormone deficiency and cystic fibrosis: a report of two cases Adult height after long term treatment with recombinant growth hormone for idiopathic isolated growth hormone deficiency: observational follow up study of the French population based registry Catch-up growth in autosomal dominant isolated growth hormone deficiency (IGHD type II). A note on the bone age at which patients with true isolated growth hormone deficiency enter puberty An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphi Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor Isolated growth hormone deficiency and the GH-1 gene: update 2002 Familial isolated growth hormone deficiency is associated with increased systolic blood pressure, central obesity, and dyslipidemia. Diagnostic value of pituitary MRI in differentiation of children with normal growth hormone secretion, isolated growth hormone deficiency and multiple pituitary hormone deficiency. Metabolic impact of adult-onset, isolated, growth hormone deficiency (AOiGHD) due to destruction of pituitary somatotropes Lipid profiles in untreated severe congenital isolated growth hormone deficiency through the lifespan Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency Genetic analysis of familial isolated growth hormone deficiency type I

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 196 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software