Metadata | |
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ID | DOID:0060375 |
Name | orofaciodigital syndrome V |
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. https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5, https://www.ncbi.nlm.nih.gov/pubmed/23972372 |
Xrefs |
SNOMEDCT_US_2023_03_01:722105002 |
Subsets |
DO_rare_slim |
Synonyms |
OFD5 [EXACT] orofaciodigital syndrome Thurston type [EXACT] polydactyly, postaxial, with median cleft of upper lip [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |