MCID: CHR512
MIFTS: 5

Cheirospondyloenchondromatosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cheirospondyloenchondromatosis

MalaCards integrated aliases for Cheirospondyloenchondromatosis:

Name: Cheirospondyloenchondromatosis 60
Generalized Enchondromatosis with Platyspondyly 60

Characteristics:

Orphanet epidemiological data:

60
cheirospondyloenchondromatosis
Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 60 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:

42
Bone

Publications for Cheirospondyloenchondromatosis

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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