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 53
Plsd San Diego Type 53

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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