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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | DUPUYTREN CONTRACTURE | |
| Synonyms |
PLANTAR FIBROMATOSIS, FAMILIAL PLANTAR FIBROMAS DUPC1 DUPUYTREN CONTRACTURE 1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/126900 |
|
| altLabel |
PLANTAR FIBROMATOSIS, FAMILIAL PLANTAR FIBROMAS DUPC1 DUPUYTREN CONTRACTURE 1
|
|
| cui |
C1851998 C0013312 C1851997
|
|
| Gene Locus |
16q11.1-q22
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|
| Gene Symbol |
DUPC1
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018578 http://purl.bioontology.org/ontology/OMIM/MTHU018579 |
|
| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown.
|
|
| notation |
126900
|
|
| OMIM Entry Type |
5
|
|
| OMIM MimType Value |
perc
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|
| prefLabel |
DUPUYTREN CONTRACTURE
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|
| Scope Statement |
Associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease) [MISCELLANEOUS] Earlier onset is associated with more aggressive disease course [MISCELLANEOUS] High risk of recurrence after surgery [MISCELLANEOUS] Reduced penetrance [MISCELLANEOUS] Onset in fifth or sixth decade [MISCELLANEOUS] Male to female ratio is greater than 3:1 [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
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|
| tui |
T047
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