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 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 thanatophoric dysplasia, type i and hereditary persistence of alpha-fetoprotein. An important gene associated with Skeletal Dysplasia, San Diego Type is FGFR3 (Fibroblast Growth Factor Receptor 3). Affiliated tissues include salivary gland, ovary and 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
1thanatophoric dysplasia, type i11.8
2hereditary persistence of alpha-fetoprotein10.5
3endotheliitis10.5

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
Salivary gland, Ovary, 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
Unilateral absence of tube and ovary with renal agenesis and associated pyloric stenosis: communication. (17187917)
2008
2
Expression of androgen, estrogen, and progesterone receptors in salivary gland tumors. Frequent expression of androgen receptor in a subset of malignant salivary gland tumors. (12817426)
2003
3
Reversal of P-glycoprotein-associated multidrug resistance by ivermectin. (8960059)
1997

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