Search Ontology:
Human Disease

orofaciodigital syndrome XVI

Term ID
DOID:0080254
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0080254 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models