MCID: SKL009

Skeletal Dysplasia, San Diego Type malady

Rare diseases, Bone diseases categories

Summaries for Skeletal Dysplasia, San Diego Type

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MalaCards based summary: Skeletal Dysplasia, San Diego Type, also known as plsd san diego type, is related to skeletal dysplasias. An important gene associated with Skeletal Dysplasia, San Diego Type is FGFR3 (fibroblast growth factor receptor 3).

Aliases & Classifications for Skeletal Dysplasia, San Diego Type

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Skeletal Dysplasia, San Diego Type, Aliases & Descriptions:

Name: Skeletal Dysplasia, San Diego Type 43
 
Plsd San Diego Type 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Bone diseases


Related Diseases for Skeletal Dysplasia, San Diego Type

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Diseases related to Skeletal Dysplasia, San Diego Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1skeletal dysplasias10.7

Symptoms for Skeletal Dysplasia, San Diego Type

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Drugs & Therapeutics for Skeletal Dysplasia, San Diego Type

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Drug clinical trials:

Search ClinicalTrials for Skeletal Dysplasia, San Diego Type

Search NIH Clinical Center for Skeletal Dysplasia, San Diego Type

Genetic Tests for Skeletal Dysplasia, San Diego Type

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Anatomical Context for Skeletal Dysplasia, San Diego Type

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Animal Models for Skeletal Dysplasia, San Diego Type or affiliated genes

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Publications for Skeletal Dysplasia, San Diego Type

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Articles related to Skeletal Dysplasia, San Diego Type:

idTitleAuthorsYear
1
Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report. (19340824)
2009
2
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. (10360402)
1999
3
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type. (9799297)
1998

Variations for Skeletal Dysplasia, San Diego Type

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Expression for genes affiliated with Skeletal Dysplasia, San Diego Type

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Search GEO for disease gene expression data for Skeletal Dysplasia, San Diego Type.

Pathways for genes affiliated with Skeletal Dysplasia, San Diego Type

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Compounds for genes affiliated with Skeletal Dysplasia, San Diego Type

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GO Terms for genes affiliated with Skeletal Dysplasia, San Diego Type

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Products for genes affiliated with Skeletal Dysplasia, San Diego Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Skeletal Dysplasia, San Diego Type

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet