Term Name: short-rib thoracic dysplasia 13 with or without polydactyly
Synonyms: SRTD13
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.
Ontology: Human Disease [DOID:0110093]   ( DOID:0110093 )

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