Term Name: short-rib thoracic dysplasia 10 with or without polydactyly
Synonyms: SRTD10
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
Ontology: Human Disease [DOID:0110091]   ( DOID:0110091 )

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