MCID: SKL009
MIFTS: 7

Skeletal Dysplasia, San Diego Type

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Skeletal Dysplasia, San Diego Type

MalaCards integrated aliases for Skeletal Dysplasia, San Diego Type:

Name: Skeletal Dysplasia, San Diego Type 20
Plsd San Diego Type 20

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 11.6
2 skeletal dysplasias 10.3
3 platyspondylic lethal skeletal dysplasia, torrance type 10.2
4 down syndrome 10.2
5 chromosomal triplication 10.2

Graphical network of the top 20 diseases related to Skeletal Dysplasia, San Diego Type:



Diseases related to Skeletal Dysplasia, San Diego Type

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 PMID Year
1
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. 61
25119967 2015
2
Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report. 61
19340824 2009
3
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. 61
10360402 1999
4
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type. 61
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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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