MCID: SHR042
MIFTS: 14

Short Stature, Idiopathic Familial malady

Bone diseases, Fetal diseases, Genetic diseases categories

Summaries for Short Stature, Idiopathic Familial

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46OMIM, 32MalaCards
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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). Affiliated tissues include bone.

Description from OMIM:46 300582

Aliases & Classifications for Short Stature, Idiopathic Familial

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Sources:
48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
shox-related short stature:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

short stature, idiopathic familial 46
shox-related short stature 48


External Ids:

OMIM46 300582
ICD10 via Orphanet26 Q87.1

Related Diseases for Short Stature, Idiopathic Familial

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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

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46OMIM
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Clinical features from OMIM:

300582

Drugs & Therapeutics for Short Stature, Idiopathic Familial

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Short Stature, Idiopathic Familial

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32MalaCards
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MalaCards organs/tissues related to Short Stature, Idiopathic Familial:

32
Bone

Animal Models for Short Stature, Idiopathic Familial or affiliated genes

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Publications for Short Stature, Idiopathic Familial

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Genetic Variations for Short Stature, Idiopathic Familial

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Expression for genes affiliated with Short Stature, Idiopathic Familial

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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

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Compounds for genes affiliated with Short Stature, Idiopathic Familial

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GO Terms for genes affiliated with Short Stature, Idiopathic Familial

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Products for genes affiliated with Short Stature, Idiopathic Familial

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Short Stature, Idiopathic Familial

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet