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 59

Classifications:



External Ids:

Orphanet 59 ORPHA93434

Summaries for Spondylodysplastic Dysplasia

MalaCards based summary : Spondylodysplastic Dysplasia is related to obsolete: moderate spondylodysplastic 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 obsolete: moderate spondylodysplastic dysplasia 12.3
2 spondyloepimetaphyseal dysplasia, strudwick type 10.2
3 spondylometaphyseal dysplasia, sedaghatian type 10.2
4 schneckenbecken dysplasia 10.2
5 fibrochondrogenesis 10.2
6 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:

41
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. 38
24786642 2014
2
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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