MCID: SPN138

Spondyloepiphyseal Dysplasia Omani Type malady

Genetic diseases, Rare diseases categories

Summaries for Spondyloepiphyseal Dysplasia Omani Type

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MalaCards: 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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44NIH Rare Diseases, 21GeneTests
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Classifications:

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Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

spondyloepiphyseal dysplasia omani type 44
omani type of spondyloepiphyseal dysplasia 44 21


Related Diseases for Spondyloepiphyseal Dysplasia Omani Type

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18GeneCards, 19GeneDecks
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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 dislocations10.4

Symptoms for Spondyloepiphyseal Dysplasia Omani Type

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Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Omani Type

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Spondyloepiphyseal Dysplasia Omani Type

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21GeneTests
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Genetic tests related to Spondyloepiphyseal Dysplasia Omani Type:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia, Omani Type21 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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53PubMed
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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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

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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
  • Antibodies

Sources for Spondyloepiphyseal Dysplasia Omani Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet