Term Name:
Treacher Collins syndrome 2
Synonyms:
Definition:
A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
Ontology:
Human Disease [DOID:0080790] (
DOID:0080790
)
Relationships
is a type of:
autosomal recessive disease
Treacher Collins syndrome