MCID: SCL049
MIFTS: 11

Scoliosis, Isolated 3

Categories: Rare diseases

Aliases & Classifications for Scoliosis, Isolated 3

MalaCards integrated aliases for Scoliosis, Isolated 3:

Name: Scoliosis, Isolated 3 57
Scoliosis, Idiopathic 3 29 13 6
Is3 57 75
Scoliosis, Idiopathic, Susceptibility to, Type 3 40
Scoliosis, Isolated, Susceptibility to, 3 57
Idiopathic Scoliosis 3 75

Classifications:



External Ids:

OMIM 57 608765
MedGen 42 C1837461
MeSH 44 D012600

Summaries for Scoliosis, Isolated 3

OMIM : 57 Idiopathic scoliosis, an abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees, affects approximately 2 to 3% of the worldwide population and has a heritable component (summary by Bashiardes et al., 2004). For a discussion of genetic heterogeneity of isolated scoliosis, see IS1 (181800). (608765)

MalaCards based summary : Scoliosis, Isolated 3, is also known as scoliosis, idiopathic 3. An important gene associated with Scoliosis, Isolated 3 is CHD7 (Chromodomain Helicase DNA Binding Protein 7).

UniProtKB/Swiss-Prot : 75 Idiopathic scoliosis 3: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees.

Related Diseases for Scoliosis, Isolated 3

Symptoms & Phenotypes for Scoliosis, Isolated 3

Clinical features from OMIM:

608765

Drugs & Therapeutics for Scoliosis, Isolated 3

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Genetic Tests for Scoliosis, Isolated 3

Genetic tests related to Scoliosis, Isolated 3:

# Genetic test Affiliating Genes
1 Scoliosis, Idiopathic 3 29 CHD7

Anatomical Context for Scoliosis, Isolated 3

Publications for Scoliosis, Isolated 3

Variations for Scoliosis, Isolated 3

Expression for Scoliosis, Isolated 3

Search GEO for disease gene expression data for Scoliosis, Isolated 3.

Pathways for Scoliosis, Isolated 3

GO Terms for Scoliosis, Isolated 3

Sources for Scoliosis, Isolated 3

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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