Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Combined Pituitary Hormone Deficiency
Synonyms	Panhypopituitarism
ID	http://purl.bioontology.org/ontology/MESH/C580003
altLabel	Panhypopituitarism
cui	C0242343
HM	D007018
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D007018
MDA	20131024
MeSH Frequency	204
MMR	20150818
notation	C580003
prefLabel	Combined Pituitary Hormone Deficiency
SC	3
Scope Statement	A hereditary autosomal recessive form of hypopituitarism that is characterized by growth retardation, HYPOTHYROIDISM, reduced levels of CORTISOL, and absent or DELAYED PUBERTY due to low levels of LUTEINIZING HORMONE or FOLLICLE-STIMULATING HORMONE . Rarely, INTELLECTUAL DISABILITY, neck abnormalities, and OPTIC NERVE defects may also occur. Mutations in the PROP1 gene have been identified in some cases. OMIM: 262600
TERMUI	T841145 T368542
TH	NLM (2000) ORD (2010) OMIM (2013) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/E23.0	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU047145	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU047145	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU017686	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/262600	Online Mendelian Inheritance in Man	CUI