Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Dwarfism, Pituitary
Synonyms	Growth Hormone Deficiency Dwarfism
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.
ID	http://purl.bioontology.org/ontology/MESH/D004393
altLabel	Growth Hormone Deficiency Dwarfism Isolated Somatotropin Deficiency Disorder Pituitary Nanism Hyposomatotrophic Dwarfism Isolated GH Deficiency Pituitary Dwarfism Isolated Growth Hormone Deficiency Isolated Somatotropin Deficiency Dwarfism, Growth Hormone Deficiency Nanism, Pituitary Isolated HGH Deficiency Hypophysial Dwarf Isolated Human Growth Hormone Deficiency Pituitary Dwarf
AQL	BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0013338 C1563694
DC	1
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.
DX	19660101
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Mapped from	http://purl.bioontology.org/ontology/MESH/C537149 http://purl.bioontology.org/ontology/MESH/C563172 http://purl.bioontology.org/ontology/MESH/C564712 http://purl.bioontology.org/ontology/MESH/C565805 http://purl.bioontology.org/ontology/MESH/C536710 http://purl.bioontology.org/ontology/MESH/C565594 http://purl.bioontology.org/ontology/MESH/C562704 http://purl.bioontology.org/ontology/MESH/C562705 http://purl.bioontology.org/ontology/MESH/C567492 http://purl.bioontology.org/ontology/MESH/C537505 http://purl.bioontology.org/ontology/MESH/C537404
MDA	19990101
MMR	20130708
MN	C10.228.140.617.738.300.300 C19.297.312 C19.700.482.311 C05.116.099.343.445 C05.116.132.358
notation	D004393
prefLabel	Dwarfism, Pituitary
TERMUI	T013401 T367408 T843591 T367409 T841774 T841777 T367407 T841779 T843590 T013402 T841778 T367406 T367410
TH	NLM (2000) NLM (1966) GHR (2014) NLM (1998)
tui	T101 T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D004392 http://purl.bioontology.org/ontology/MESH/D007018 http://purl.bioontology.org/ontology/MESH/D001849

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNMI/DB-12600	SNMI	CUI
http://purl.bioontology.org/ontology/MSHFRE/D004393	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10035083	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/DB-12530	SNMI	CUI
http://purl.bioontology.org/ontology/ICD9CM/253.3	ICD9CM	CUI
http://purl.bioontology.org/ontology/ICD10CM/E23.0	ICD10CM	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001013	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D004393	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/Xa9Ap	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/7530009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/DB-12520	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/367460001	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10035083	MDRFRE	CUI
http://purl.bioontology.org/ontology/CSP/2715-1517	CRISP	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/7530009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10035083	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/367460001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU017678	OMIM	CUI
http://www.phoc.org.cn/pmo/class/PMO_00037039	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/OMIT_0005648	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.132.358	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004393	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.297.312	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.617.738.300.300	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.700.482.311	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.445	RH-MESH	LOOM