Version 2.78

Description

The SHOX gene (short stature homeobox) [HGNC Gene ID:10853] is located on chromosome Xp22.33;Yp11.3. This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6473] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
SHOX gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-08-08
Construct for LOINC Short Name
SHOX gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP31887-0
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP31887-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SHOX 基因
Synonyms: Leri Weill 综合征;Leri-Weill;Leri—Weill 软骨生成障碍;Leri-Weill 软骨骨生成障碍;PHOG;SHOXY;矮小同源盒;矮身材同源结构域
et-EE Estonian (Estonia) SHOX geen
es-ES Spanish (Spain) Gen SHOX
it-IT Italian (Italy) SHOX, gene
Synonyms: Gene SHOX
tr-TR Turkish (Turkey) SHOX geni
ru-RU Russian (Russian Federation) SHOX ген
nl-NL Dutch (Netherlands) SHOX-gen
Synonyms: SHOX gen