MCID: SPN138

Spondyloepiphyseal Dysplasia Omani Type malady

Genetic diseases, Rare diseases categories

Summaries for Spondyloepiphyseal Dysplasia Omani Type

About this section


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

About this section

Spondyloepiphyseal Dysplasia Omani Type, Aliases & Descriptions:

Name: Spondyloepiphyseal Dysplasia Omani Type 42
 
Omani Type of Spondyloepiphyseal Dysplasia 42 21 61


Classifications:

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


Related Diseases for Spondyloepiphyseal Dysplasia Omani Type

About this section

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

About this section

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Omani Type

About this section

Drug clinical trials:

Search ClinicalTrials for Spondyloepiphyseal Dysplasia Omani Type

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia Omani Type

Genetic Tests for Spondyloepiphyseal Dysplasia Omani Type

About this section

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

About this section

Animal Models for Spondyloepiphyseal Dysplasia Omani Type or affiliated genes

About this section

Publications for Spondyloepiphyseal Dysplasia Omani Type

About this section

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

About this section

Expression for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

About this section
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

About this section

Compounds for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

About this section

GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

About this section

Products for genes affiliated with Spondyloepiphyseal Dysplasia Omani Type

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Spondyloepiphyseal Dysplasia Omani Type

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet