MCID: SPN437
MIFTS: 7

Spondylodysplastic Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondylodysplastic Dysplasia

MalaCards integrated aliases for Spondylodysplastic Dysplasia:

Name: Spondylodysplastic Dysplasia 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA93434

Summaries for Spondylodysplastic Dysplasia

MalaCards based summary : Spondylodysplastic Dysplasia is related to schneckenbecken dysplasia and spondyloepimetaphyseal dysplasia, strudwick type. Affiliated tissues include bone.

Related Diseases for Spondylodysplastic Dysplasia

Diseases related to Spondylodysplastic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 schneckenbecken dysplasia 11.7
2 spondyloepimetaphyseal dysplasia, strudwick type 10.2
3 spondylometaphyseal dysplasia, sedaghatian type 10.2
4 fibrochondrogenesis 10.2
5 skeletal dysplasias 10.2

Graphical network of the top 20 diseases related to Spondylodysplastic Dysplasia:



Diseases related to Spondylodysplastic Dysplasia

Symptoms & Phenotypes for Spondylodysplastic Dysplasia

Drugs & Therapeutics for Spondylodysplastic Dysplasia

Search Clinical Trials , NIH Clinical Center for Spondylodysplastic Dysplasia

Genetic Tests for Spondylodysplastic Dysplasia

Anatomical Context for Spondylodysplastic Dysplasia

MalaCards organs/tissues related to Spondylodysplastic Dysplasia:

40
Bone

Publications for Spondylodysplastic Dysplasia

Articles related to Spondylodysplastic Dysplasia:

# Title Authors PMID Year
1
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. 61
24786642 2014
2
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. 61
23273569 2013

Variations for Spondylodysplastic Dysplasia

Expression for Spondylodysplastic Dysplasia

Search GEO for disease gene expression data for Spondylodysplastic Dysplasia.

Pathways for Spondylodysplastic Dysplasia

GO Terms for Spondylodysplastic Dysplasia

Sources for Spondylodysplastic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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