Visualize Submit Comment
Metadata
ID DOID:0080295
Name short-rib thoracic dysplasia 19 with or without polydactyly
Definition An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.
https://pubmed.ncbi.nlm.nih.gov/27666822/
Xrefs

OMIM:617895

Parent Relationships

is_a autosomal recessive disease

is_a asphyxiating thoracic dystrophy

Add an item to the term tracker