MCID: CRP009
MIFTS: 9

Carpotarsal Osteochondromatosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Carpotarsal Osteochondromatosis

MalaCards integrated aliases for Carpotarsal Osteochondromatosis:

Name: Carpotarsal Osteochondromatosis 54 74
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 54 74
Dominant Carpotarsal Osteochondromatosis 54
Maroteaux Le Merrer Bensahel Syndrome 54

Classifications:



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Summaries for Carpotarsal Osteochondromatosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2767Disease definitionCarpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.Visit the Orphanet disease page for more resources.

MalaCards based summary : Carpotarsal Osteochondromatosis, also known as dysplasia epiphysealis hemimelica with chondromas and osteochondromas, is related to dysplasia epiphysealis hemimelica with chondromas and osteochondromas. Affiliated tissues include bone.

Related Diseases for Carpotarsal Osteochondromatosis

Diseases related to Carpotarsal Osteochondromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.9

Symptoms & Phenotypes for Carpotarsal Osteochondromatosis

Drugs & Therapeutics for Carpotarsal Osteochondromatosis

Search Clinical Trials , NIH Clinical Center for Carpotarsal Osteochondromatosis

Genetic Tests for Carpotarsal Osteochondromatosis

Anatomical Context for Carpotarsal Osteochondromatosis

MalaCards organs/tissues related to Carpotarsal Osteochondromatosis:

42
Bone

Publications for Carpotarsal Osteochondromatosis

Articles related to Carpotarsal Osteochondromatosis:

# Title Authors Year
1
Dominant carpotarsal osteochondromatosis. ( 8411062 )
1993

Variations for Carpotarsal Osteochondromatosis

Expression for Carpotarsal Osteochondromatosis

Search GEO for disease gene expression data for Carpotarsal Osteochondromatosis.

Pathways for Carpotarsal Osteochondromatosis

GO Terms for Carpotarsal Osteochondromatosis

Sources for Carpotarsal Osteochondromatosis

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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