Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
Synonyms	PITUITARY DWARFISM III
ID	http://purl.bioontology.org/ontology/OMIM/262600
altLabel	PITUITARY DWARFISM III CPHD2 ATELIOTIC DWARFISM WITH HYPOGONADISM PANHYPOPITUITARISM HANHART DWARFISM
cui	C0242343 C0878683
Gene Locus	5q
Gene Symbol	PROP1 CPHD2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000132 http://purl.bioontology.org/ontology/OMIM/MTHU024665 http://purl.bioontology.org/ontology/OMIM/MTHU028494 http://purl.bioontology.org/ontology/OMIM/MTHU024667 http://purl.bioontology.org/ontology/OMIM/MTHU002670 http://purl.bioontology.org/ontology/OMIM/MTHU037871 http://purl.bioontology.org/ontology/OMIM/MTHU025887 http://purl.bioontology.org/ontology/OMIM/MTHU025889 http://purl.bioontology.org/ontology/OMIM/MTHU024668 http://purl.bioontology.org/ontology/OMIM/MTHU024666 http://purl.bioontology.org/ontology/OMIM/MTHU017686 http://purl.bioontology.org/ontology/OMIM/MTHU025888 http://purl.bioontology.org/ontology/OMIM/MTHU025886 http://purl.bioontology.org/ontology/OMIM/MTHU025883 http://purl.bioontology.org/ontology/OMIM/MTHU025881
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	262600
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
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/MESH/C563172	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C563172	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/MESH/C580003	Medical Subject Headings	CUI