MCID: SKL009

Skeletal Dysplasia, San Diego Type malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Skeletal Dysplasia, San Diego Type

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Aliases & Descriptions for Skeletal Dysplasia, San Diego Type:

Name: Skeletal Dysplasia, San Diego Type 46
 
Plsd San Diego Type 46

Classifications:



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 thanatophoric dysplasia, type i and skeletal dysplasias. An important gene associated with Skeletal Dysplasia, San Diego Type is FGFR3 (Fibroblast Growth Factor Receptor 3).

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type i11.4
2skeletal dysplasias10.4
3skeletal dysplasia10.4

Symptoms for Skeletal Dysplasia, San Diego Type

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Drugs & Therapeutics for Skeletal Dysplasia, San Diego Type

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Interventional clinical trials:

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

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Sources for Skeletal Dysplasia, San Diego Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet