Visualize Submit Comment
Metadata
ID DOID:0060374
Name orofaciodigital syndrome IV
Definition An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4
Xrefs

MESH:C537133

OMIM:258860

ORDO:2753

SNOMEDCT_US_2020_09_01:239031000

UMLS_CUI:C0406727

Subsets

DO_rare_slim

Synonyms

Baraitser-Burn syndrome [EXACT]

OFD4 [EXACT]

Parent Relationships

is_a orofaciodigital syndrome

is_a autosomal recessive disease

Add an item to the term tracker