MCID: DYS183
MIFTS: 15

Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica with Chondromas and...

MalaCards integrated aliases for Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:

Name: Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 58
Carpotarsal Osteochondromatosis 60 74
Osteochondromatosis, Dominant Carpotarsal 58
Maroteaux-Le Merrer-Bensahel Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
carpotarsal osteochondromatosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
dysplasia epiphysealis hemimelica with chondromas and osteochondromas:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 127820
ICD10 via Orphanet 35 D16.9
UMLS via Orphanet 75 C1300233
Orphanet 60 ORPHA2767
MedGen 43 C1851956
UMLS 74 C1300233

Summaries for Dysplasia Epiphysealis Hemimelica with Chondromas and...

MalaCards based summary : Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas, also known as carpotarsal osteochondromatosis, is related to carpotarsal osteochondromatosis. Affiliated tissues include bone, and related phenotypes are joint swelling and osteochondroma

Description from OMIM: 127820

Related Diseases for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Diseases related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 carpotarsal osteochondromatosis 11.9

Symptoms & Phenotypes for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Human phenotypes related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:

33
# Description HPO Frequency HPO Source Accession
1 joint swelling 33 HP:0001386
2 osteochondroma 33 HP:0030431

Symptoms via clinical synopsis from OMIM:

58
Joints:
joint swelling
restricted joint mobility
intracapsular or periarticular chondromas of knee

Misc:
extraskeletal chondromas

Skel:
dysplasia epiphysealis hemimelica
osteochondromas

Clinical features from OMIM:

127820

Drugs & Therapeutics for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Search Clinical Trials , NIH Clinical Center for Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas

Genetic Tests for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Anatomical Context for Dysplasia Epiphysealis Hemimelica with Chondromas and...

MalaCards organs/tissues related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:

42
Bone

Publications for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Articles related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:

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

Variations for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Expression for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Search GEO for disease gene expression data for Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas.

Pathways for Dysplasia Epiphysealis Hemimelica with Chondromas and...

GO Terms for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Sources for Dysplasia Epiphysealis Hemimelica with Chondromas and...

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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