MCID: SPN138

Spondyloepiphyseal Dysplasia Omani Type malady

Genetic diseases, Rare diseases categories
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Summaries for Spondyloepiphyseal Dysplasia Omani Type

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MalaCards based summary: Spondyloepiphyseal Dysplasia Omani Type, also known as omani type of spondyloepiphyseal dysplasia, is related to spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Spondyloepiphyseal Dysplasia Omani Type is CHST3 (carbohydrate (chondroitin 6) sulfotransferase 3).

Aliases & Classifications for Spondyloepiphyseal Dysplasia Omani Type

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Spondyloepiphyseal Dysplasia Omani Type, Aliases & Descriptions:

Name: Spondyloepiphyseal Dysplasia Omani Type 42
 
Omani Type of Spondyloepiphyseal Dysplasia 42 20 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Spondyloepiphyseal Dysplasia Omani Type

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Diseases related to Spondyloepiphyseal Dysplasia Omani Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia with congenital joint dislocations10.5

Symptoms for Spondyloepiphyseal Dysplasia Omani Type

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Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Omani Type

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Drug clinical trials:

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Search NIH Clinical Center for Spondyloepiphyseal Dysplasia Omani Type

Genetic Tests for Spondyloepiphyseal Dysplasia Omani Type

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Genetic tests related to Spondyloepiphyseal Dysplasia Omani Type:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia, Omani Type20 CHST3

Anatomical Context for Spondyloepiphyseal Dysplasia Omani Type

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Animal Models for Spondyloepiphyseal Dysplasia Omani Type or affiliated genes

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Publications for Spondyloepiphyseal Dysplasia Omani Type

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Articles related to Spondyloepiphyseal Dysplasia Omani Type:

idTitleAuthorsYear
1
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. (18698629)
2008
2
Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement. (15098240)
2004

Variations for Spondyloepiphyseal Dysplasia Omani Type

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Expression for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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Expression patterns in normal tissues for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Omani Type.

Pathways for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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Compounds for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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Products for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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  • Antibodies
  • Proteins
  • Lysates

Sources for Spondyloepiphyseal Dysplasia Omani Type

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet