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MCID: DYS183
MIFTS: 17
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Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:
Characteristics:Orphanet epidemiological data:58
carpotarsal osteochondromatosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy; HPO:31
dysplasia epiphysealis hemimelica with chondromas and osteochondromas:
Inheritance autosomal dominant inheritance Classifications:
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2767 Definition Carpotarsal 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 : Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas, also known as carpotarsal osteochondromatosis, is related to dysplasia epiphysealis hemimelica. Affiliated tissues include bone, and related phenotypes are joint swelling and osteochondroma
More information from OMIM:
127820
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Diseases related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:31
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MalaCards organs/tissues related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:40
Bone
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Articles related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:
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Search
GEO
for disease gene expression data for Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas.
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