MCID: CHR512
MIFTS: 6

Cheirospondyloenchondromatosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cheirospondyloenchondromatosis

MalaCards integrated aliases for Cheirospondyloenchondromatosis:

Name: Cheirospondyloenchondromatosis 58
Generalized Enchondromatosis with Platyspondyly 58

Characteristics:

Orphanet epidemiological data:

58
cheirospondyloenchondromatosis
Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA99647

Summaries for Cheirospondyloenchondromatosis

MalaCards based summary : Cheirospondyloenchondromatosis, is also known as generalized enchondromatosis with platyspondyly. Affiliated tissues include bone.

Related Diseases for Cheirospondyloenchondromatosis

Symptoms & Phenotypes for Cheirospondyloenchondromatosis

Drugs & Therapeutics for Cheirospondyloenchondromatosis

Search Clinical Trials , NIH Clinical Center for Cheirospondyloenchondromatosis

Genetic Tests for Cheirospondyloenchondromatosis

Anatomical Context for Cheirospondyloenchondromatosis

MalaCards organs/tissues related to Cheirospondyloenchondromatosis:

40
Bone

Publications for Cheirospondyloenchondromatosis

Articles related to Cheirospondyloenchondromatosis:

# Title Authors PMID Year
1
Enchondromatosis: insights on the different subtypes. 61
20661403 2010
2
Autosomal dominant inheritance of spondyloenchondrodysplasia. 61
15887273 2005

Variations for Cheirospondyloenchondromatosis

Expression for Cheirospondyloenchondromatosis

Search GEO for disease gene expression data for Cheirospondyloenchondromatosis.

Pathways for Cheirospondyloenchondromatosis

GO Terms for Cheirospondyloenchondromatosis

Sources for Cheirospondyloenchondromatosis

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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