Terminology Service for NFDI4Health
orofaciodigital syndrome V
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http://purl.obolibrary.org/obo/DOID_0060375
An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Label
orofaciodigital syndrome V
Synonyms
- OFD5
- orofaciodigital syndrome Thurston type
- polydactyly, postaxial, with median cleft of upper lip
Subsets
DO_rare_slim
created by
elvira
creation date
2015-09-18T15:00:19Z
has obo namespace
disease_ontology
id
DOID:0060375