MCID: SKL009
MIFTS: 10

Skeletal Dysplasia, San Diego Type malady

Rare diseases, Bone diseases categories
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Summaries for Skeletal Dysplasia, San Diego Type

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33MalaCards
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MalaCards: Skeletal Dysplasia, San Diego Type, also known as plsd san diego type, is related to skeletal dysplasias and thanatophoric dysplasia. 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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43NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

skeletal dysplasia, san diego type 43
plsd san diego type 43


Related Diseases for Skeletal Dysplasia, San Diego Type

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17GeneCards, 18GeneDecks
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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
2thanatophoric dysplasia10.6
3thanatophoric dysplasia type 110.4

Symptoms for Skeletal Dysplasia, San Diego Type

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Drugs & Therapeutics for Skeletal Dysplasia, San Diego Type

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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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52PubMed
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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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Skeletal Dysplasia, San Diego Type

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

Sources for Skeletal Dysplasia, San Diego Type

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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