MCID: CRP009
MIFTS: 10

Carpotarsal Osteochondromatosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Carpotarsal Osteochondromatosis

MalaCards integrated aliases for Carpotarsal Osteochondromatosis:

Name: Carpotarsal Osteochondromatosis 53 73
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 53 73
Dominant Carpotarsal Osteochondromatosis 53
Maroteaux Le Merrer Bensahel Syndrome 53

Classifications:



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Summaries for Carpotarsal Osteochondromatosis

NIH Rare Diseases : 53 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 11.8

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:

41
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 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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