Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

LARON SYNDROME
Synonyms

GROWTH HORMONE INSENSITIVITY SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/262500
altLabel

GROWTH HORMONE INSENSITIVITY SYNDROME

PITUITARY DWARFISM II

GROWTH HORMONE RECEPTOR DEFICIENCY
cui

C0271568
Gene Locus

5p13-p12
Gene Symbol

GHR

GHIP
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU042133
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

262500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LARON SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9521 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E34.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D046150 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D046150 Medical Subject Headings LOOM