Visualize Submit Comment
Metadata
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

MESH:C557819

OMIM:174300

ORDO:2919

SNOMEDCT_US_2020_09_01:722105002

UMLS_CUI:C1868118

Subsets

DO_rare_slim

Synonyms

OFD5 [EXACT]

orofaciodigital syndrome Thurston type [EXACT]

polydactyly, postaxial, with median cleft of upper lip [EXACT]

Parent Relationships

is_a orofaciodigital syndrome

is_a autosomal recessive disease

Add an item to the term tracker