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Human Disease
orofaciodigital syndrome V
- Term ID
- DOID:0060375
- Synonyms
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- OFD5
- orofaciodigital syndrome Thurston type
- polydactyly, postaxial, with median cleft of upper lip
- Definition
- 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. (2)
- References
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- MESH:C557819
- MIM:174300
- ORDO:2919
- SNOMEDCT_US_2023_03_01:722105002
- UMLS_CUI:C1868118
- Ontology
- Human Disease ( DOID:0060375 )
- is a type of
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Genes Involved
Zebrafish Models