(Q55783361)

English

short stature due to partial GHR deficiency

human disease

GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP
GHIP
GROWTH HORMONE INSENSITIVITY, PARTIAL
Short stature due to partial growth hormone receptor deficiency

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No description defined

Statements

0 references

class of disease

0 references

growth hormone insensitivity syndrome

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000112964/MONDO_0011420

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_314802

0 references

Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

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