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MCID: DYS183
MIFTS: 15
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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:
Name: Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas
58
Characteristics:Orphanet epidemiological data:60
carpotarsal osteochondromatosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy; HPO:33
dysplasia epiphysealis hemimelica with chondromas and osteochondromas:
Inheritance autosomal dominant inheritance Classifications:
ICD10:
35
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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
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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:33
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MalaCards organs/tissues related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:42
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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