MCID: SKL009
MIFTS: 8

Skeletal Dysplasia, San Diego Type

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Skeletal Dysplasia, San Diego Type

MalaCards integrated aliases for Skeletal Dysplasia, San Diego Type:

Name: Skeletal Dysplasia, San Diego Type 49
Plsd San Diego Type 49

Classifications:



Summaries for Skeletal Dysplasia, San Diego Type

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

Diseases related to Skeletal Dysplasia, San Diego Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type i 11.8
2 skeletal dysplasias 10.3

Symptoms & Phenotypes for Skeletal Dysplasia, San Diego Type

Drugs & Therapeutics for Skeletal Dysplasia, San Diego Type

Search Clinical Trials , NIH Clinical Center for Skeletal Dysplasia, San Diego Type

Genetic Tests for Skeletal Dysplasia, San Diego Type

Anatomical Context for Skeletal Dysplasia, San Diego Type

Publications for Skeletal Dysplasia, San Diego Type

Articles related to Skeletal Dysplasia, San Diego Type:

# Title Authors Year
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

Expression for Skeletal Dysplasia, San Diego Type

Search GEO for disease gene expression data for Skeletal Dysplasia, San Diego Type.

Pathways for Skeletal Dysplasia, San Diego Type

GO Terms for Skeletal Dysplasia, San Diego Type

Sources for Skeletal Dysplasia, San Diego Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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