Medical Subject Headings - Dwarfism, Pituitary - Classes | NCBO BioPortal

Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D004393 http://purl.bioontology.org/ontology/MESH/D004393
Preferred Name	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.
Synonyms	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 See more See less
Type	http://www.w3.org/2002/07/owl#Class

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.
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 See more See less
prefLabel	Dwarfism, Pituitary
TH	NLM (2000) NLM (1966) GHR (2014) NLM (1998)
notation	D004393
DX	19660101
MN	C10.228.140.617.738.300.300 C19.297.312 C19.700.482.311 C05.116.099.343.445 C05.116.132.358
MMR	20130708
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 See more See less
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
subClassOf	http://purl.bioontology.org/ontology/MESH/D004392 http://purl.bioontology.org/ontology/MESH/D007018 http://purl.bioontology.org/ontology/MESH/D001849
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T101
DC	1
MDA	19990101
type	http://www.w3.org/2002/07/owl#Class
tui	T101 T047
cui	C0013338 C1563694
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 See more See less
TERMUI	T013401 T367408 T843591 T367409 T841774 T841777 T367407 T841779 T843590 T013402 T841778 T367406 T367410 See more See less

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