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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/158300
http://purl.bioontology.org/ontology/OMIM/158300
|
|---|---|
| Preferred Name | ARTHROGRYPOSIS, DISTAL, TYPE 7 |
| Synonyms |
DA7
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
HECHT SYNDROME
MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DA7
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
HECHT SYNDROME
MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS
|
|---|---|
| prefLabel | ARTHROGRYPOSIS, DISTAL, TYPE 7
|
| Gene Symbol |
DA7
MYH8
|
| Scope Statement | Hands clenched at birth but loosen in infancy [MISCELLANEOUS]
Caused by mutation in the myosin, heavy polypeptide-8 gene (MYH8, 160741.0001) [MOLECULAR BASIS]
More common in females [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 17p13.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 158300
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0265226
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |