Term Name: short-rib thoracic dysplasia 14 with polydactyly
Synonyms: SRTD14
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
Ontology: Human Disease [DOID:0110096]   ( DOID:0110096 )

Relationships
is a type of: asphyxiating thoracic dystrophy autosomal recessive disease