MCID: SKL009

Skeletal Dysplasia, San Diego Type malady

Rare diseases, Bone diseases categories

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 45
 
Plsd San Diego Type 45


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 skeletal dysplasias and skeletal dysplasia. An important gene associated with Skeletal Dysplasia, San Diego Type is FGFR3 (Fibroblast Growth Factor Receptor 3). Affiliated tissues include bone.

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
1skeletal dysplasias10.7
2skeletal dysplasia10.7
3thanatophoric dysplasia, type i10.4

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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MalaCards organs/tissues related to Skeletal Dysplasia, San Diego Type:

33
Bone

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet