MCID: SKL009
MIFTS: 10

Skeletal Dysplasia, San Diego Type malady

Rare diseases, Bone diseases categories

Summaries for Skeletal Dysplasia, San Diego Type

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34MalaCards
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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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44NIH 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 44
plsd san diego type 44


Related Diseases for Skeletal Dysplasia, San Diego Type

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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53PubMed
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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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Skeletal Dysplasia, San Diego Type

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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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet