Visualize Submit Comment

Metadata
ID	DOID:0080293
Name	short-rib thoracic dysplasia 18 with polydactyly
Definition	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. https://pubmed.ncbi.nlm.nih.gov/28400947/
Xrefs	MIM:617866
Parent Relationships	is_a autosomal recessive disease is_a asphyxiating thoracic dystrophy
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance