Term Name: short-rib thoracic dysplasia 19 with or without polydactyly
Synonyms:
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.
Ontology: Human Disease [DOID:0080295]   ( DOID:0080295 )

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