MCID: SHX002

Shox-Related Short Stature malady

Category: Genetic diseases (common)

Aliases & Classifications for Shox-Related Short Stature

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Aliases & Descriptions for Shox-Related Short Stature:

Name: Shox-Related Short Stature 24

Classifications:



Summaries for Shox-Related Short Stature

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MalaCards based summary: Shox-Related Short Stature is related to short stature, idiopathic familial, and has symptoms including high palate, micrognathia and short neck. An important gene associated with Shox-Related Short Stature is SHOX (Short Stature Homeobox). Affiliated tissues include skeletal muscle.

Related Diseases for Shox-Related Short Stature

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Diseases related to Shox-Related Short Stature via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1short stature, idiopathic familial11.2

Symptoms & Phenotypes for Shox-Related Short Stature

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Human phenotypes related to Shox-Related Short Stature:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 micrognathia64 HP:0000347
3 short neck64 HP:0000470
4 obesity64 HP:0001513
5 short foot64 HP:0001773
6 scoliosis64 HP:0002650
7 genu valgum64 HP:0002857
8 cubitus valgus64 HP:0002967
9 tibial bowing64 HP:0002982
10 madelung deformity64 HP:0003067
11 skeletal muscle hypertrophy64 HP:0003712
12 short stature64 HP:0004322
13 ulnar radial head dislocation64 HP:0005856
14 episodic ketoacidosis64 HP:0005974
15 lower limb undergrowth64 HP:0009816
16 forearm undergrowth64 HP:0009821

Drugs & Therapeutics for Shox-Related Short Stature

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Shox-Related Short Stature

Genetic Tests for Shox-Related Short Stature

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Genetic tests related to Shox-Related Short Stature:

id Genetic test Affiliating Genes
1 Shox-Related Short Stature24 SHOX

Anatomical Context for Shox-Related Short Stature

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MalaCards organs/tissues related to Shox-Related Short Stature:

36
Skeletal muscle

Publications for Shox-Related Short Stature

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Variations for Shox-Related Short Stature

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Expression for genes affiliated with Shox-Related Short Stature

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Search GEO for disease gene expression data for Shox-Related Short Stature.

Pathways for genes affiliated with Shox-Related Short Stature

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GO Terms for genes affiliated with Shox-Related Short Stature

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Sources for Shox-Related Short Stature

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet