Online Mendelian Inheritance in Man - GROWTH HORMONE RECEPTOR - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	GROWTH HORMONE RECEPTOR
Synonyms	LARON SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/600946
altLabel	LARON SYNDROME LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN GHBP GHR LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF GROWTH HORMONE-BINDING PROTEIN INCREASED RESPONSIVENESS TO GROWTH HORMONE GROWTH HORMONE INSENSITIVITY, PARTIAL
cui	C4016706 C1858656 C3888131 C4016705 C0271568 C4016707 C1415063
Gene Locus	5p13-p12
Gene Symbol	GHR GHIP
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/600946.0019 http://purl.bioontology.org/ontology/OMIM/600946.0030 http://purl.bioontology.org/ontology/OMIM/600946.0023 http://purl.bioontology.org/ontology/OMIM/600946.0010 http://purl.bioontology.org/ontology/OMIM/600946.0012 http://purl.bioontology.org/ontology/OMIM/600946.0031 http://purl.bioontology.org/ontology/OMIM/600946.0004 http://purl.bioontology.org/ontology/OMIM/600946.0003 http://purl.bioontology.org/ontology/OMIM/600946.0024 http://purl.bioontology.org/ontology/OMIM/600946.0017 http://purl.bioontology.org/ontology/OMIM/600946.0025 http://purl.bioontology.org/ontology/OMIM/600946.0011 http://purl.bioontology.org/ontology/OMIM/600946.0009 http://purl.bioontology.org/ontology/OMIM/600946.0029 http://purl.bioontology.org/ontology/OMIM/600946.0005 http://purl.bioontology.org/ontology/OMIM/600946.0016 http://purl.bioontology.org/ontology/OMIM/600946.0018 http://purl.bioontology.org/ontology/OMIM/600946.0032 http://purl.bioontology.org/ontology/OMIM/600946.0002 http://purl.bioontology.org/ontology/OMIM/600946.0020 http://purl.bioontology.org/ontology/OMIM/600946.0022 http://purl.bioontology.org/ontology/OMIM/600946.0013 http://purl.bioontology.org/ontology/OMIM/600946.0021 http://purl.bioontology.org/ontology/OMIM/600946.0033 http://purl.bioontology.org/ontology/OMIM/600946.0027 http://purl.bioontology.org/ontology/OMIM/600946.0001 http://purl.bioontology.org/ontology/OMIM/600946.0028 http://purl.bioontology.org/ontology/OMIM/600946.0026 http://purl.bioontology.org/ontology/OMIM/600946.0014 http://purl.bioontology.org/ontology/OMIM/600946.0015 http://purl.bioontology.org/ontology/OMIM/600946.0006 http://purl.bioontology.org/ontology/OMIM/600946.0008 http://purl.bioontology.org/ontology/OMIM/600946.0007
MIMTYPEMEANING	Gene with known sequence and phenotype
notation	600946
OMIM Entry Type	4
OMIM MimType Value	plus
prefLabel	GROWTH HORMONE RECEPTOR
tui	T028 T033 T047

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/PR_000007970	Protein Ontology	LOOM
	http://purl.bioontology.org/ontology/ICD10CM/E34.3	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://purl.bioontology.org/ontology/MESH/C565805	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D046150	Medical Subject Headings	CUI
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41017	National Cancer Institute Thesaurus	LOOM