MCID: SHR042

Short Stature, Idiopathic Familial malady

Bone, Fetal, Genetic categories

Summaries for Short Stature, Idiopathic Familial

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47OMIM, 33MalaCards
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MalaCards: Short Stature, Idiopathic Familial, also known as shox-related short stature, is related to shox-related short stature. An important gene associated with Short Stature, Idiopathic Familial is SHOX (short stature homeobox).

Description from OMIM:47 300582

Aliases & Classifications for Short Stature, Idiopathic Familial

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
shox-related short stature:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

short stature, idiopathic familial 47
shox-related short stature 49


External Ids:

OMIM47 300582
ICD10 via Orphanet26 Q87.1

Related Diseases for Short Stature, Idiopathic Familial

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Short Stature, Idiopathic Familial via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1shox-related short stature10.4

Clinical Features for Short Stature, Idiopathic Familial

Sources:
47OMIM
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Clinical features from OMIM:

300582

Drugs & Therapeutics for Short Stature, Idiopathic Familial

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Short Stature, Idiopathic Familial

Drug clinical trials:

Search ClinicalTrials for Short Stature, Idiopathic Familial

Search NIH Clinical Center for Short Stature, Idiopathic Familial

Search CenterWatch for Short Stature, Idiopathic Familial

Genetic Tests for Short Stature, Idiopathic Familial

Anatomical Context for Short Stature, Idiopathic Familial

Animal Models for Short Stature, Idiopathic Familial or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Short Stature, Idiopathic Familial

Genetic Variations for Short Stature, Idiopathic Familial

Expression for genes affiliated with Short Stature, Idiopathic Familial

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Short Stature, Idiopathic Familial

Search GEO for disease gene expression data for Short Stature, Idiopathic Familial.

Pathways for genes affiliated with Short Stature, Idiopathic Familial

Compounds for genes affiliated with Short Stature, Idiopathic Familial

GO Terms for genes affiliated with Short Stature, Idiopathic Familial

Products for genes affiliated with Short Stature, Idiopathic Familial

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Short Stature, Idiopathic Familial

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet