Visualize Submit Comment
Metadata
ID DOID:0080254
Name orofaciodigital syndrome XVI
Definition An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
https://pubmed.ncbi.nlm.nih.gov/26518474/
Xrefs

OMIM:617563

Parent Relationships

is_a orofaciodigital syndrome

is_a autosomal recessive disease

Add an item to the term tracker