Experimental Factor Ontology

Last uploaded: November 18, 2024

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Preferred Name	pituitary dwarfism
Synonyms	Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] Lorain - Levi dwarfism hypopituitary dwarfism pituitary dwarfism Dwarfism, Pituitary
Definitions	A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development. Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.
ID	http://www.ebi.ac.uk/efo/EFO_1001109
closeMatch	http://identifiers.org/meddra/10035083
database_cross_reference	MONDO:0006909 MEDGEN:8506 SCTID:367460001 MedDRA:10035083 NCIt:C34555 MESH:D004393 SNOMEDCT:367460001 MeSH:D004393 UMLS:C0013338 DOID:9405 ICD9:253.3
definition	A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development. Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.
exactMatch	http://linkedlifedata.com/resource/umls/id/C0013338 http://identifiers.org/medgen/8506 http://purl.obolibrary.org/obo/EFO_1001109 http://identifiers.org/snomedct/367460001 http://identifiers.org/mesh/D004393
has_exact_synonym	Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] Lorain - Levi dwarfism hypopituitary dwarfism pituitary dwarfism Dwarfism, Pituitary
id	EFO:1001109
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#otar
label	pituitary dwarfism
notation	EFO:1001109
preferred label	pituitary dwarfism
prefLabel	pituitary dwarfism
term editor	Sirarat Sarntivijai
subClassOf	http://www.ebi.ac.uk/efo/EFO_0000512 http://www.ebi.ac.uk/efo/EFO_0005539 http://www.ebi.ac.uk/efo/EFO_0009386

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Mapping To	Ontology	Source
http://www.ebi.ac.uk/efo/EFO_1001109	CCONT	SAME_URI
http://purl.bioontology.org/ontology/MEDDRA/10035083	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNMI/DB-12530	SNMI	LOOM
rgo:20085	GAMUTS	LOOM
http://purl.bioontology.org/ontology/ICD9CM/253.3	ICD9CM	LOOM
http://purl.obolibrary.org/obo/HP_0000839	HP	LOOM
http://purl.obolibrary.org/obo/HP_0000839	UPHENO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0013338	OCHV	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18229	DERMLEX	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00014135	PMAPP-PMO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9405	NATPRO	LOOM
http://www.ebi.ac.uk/efo/EFO_1001109	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0006909	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0006909	DOVES	LOOM
http://purl.bioontology.org/ontology/CSP/2715-1517	CRISP	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34555	NCIT	LOOM
http://purl.bioontology.org/ontology/RCTV2/C133.00	RCTV2	LOOM
http://localhost/plosthes.2017-1#11377	PLOSTHES	LOOM
http://purl.obolibrary.org/obo/NCIT_C34555	BERO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/367460001	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/GSSO_009788	GSSO	LOOM