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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/174300
http://purl.bioontology.org/ontology/OMIM/174300
|
|---|---|
| Preferred Name | OROFACIODIGITAL SYNDROME V |
| Synonyms |
OROFACIODIGITAL SYNDROME, THURSTON TYPE
THURSTON SYNDROME
OFD5
ORAL-FACIAL-DIGITAL SYNDROME, TYPE V
OFDS V
POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OROFACIODIGITAL SYNDROME, THURSTON TYPE
THURSTON SYNDROME
OFD5
ORAL-FACIAL-DIGITAL SYNDROME, TYPE V
OFDS V
POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP
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|
|---|---|
| prefLabel | OROFACIODIGITAL SYNDROME V
|
| Gene Symbol |
OFD5
DDX59
|
| notation | 174300
|
| Scope Statement | Caused by mutation in the dead-box helicase 59 gene (DDX59, 615464.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 1q32.1
|
| tui | T047
|
| cui | C1868118
|
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