Term Name: short-rib thoracic dysplasia 18 with polydactyly
Synonyms:
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
Ontology: Human Disease [DOID:0080293]   ( DOID:0080293 )

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