MCID: SPN138

Spondyloepiphyseal Dysplasia Omani Type malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
43NIH Rare Diseases, 20GeneTests
See all sources

Classifications:

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


Aliases & Descriptions:

spondyloepiphyseal dysplasia omani type 43
omani type of spondyloepiphyseal dysplasia 43 20


Related Diseases for Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Omani Type

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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
Sources:
20GeneTests
See all sources

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

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
Sources:
52PubMed
See all sources

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
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources for Spondyloepiphyseal Dysplasia Omani Type

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet