short-rib thoracic dysplasia 19 with or without polydactyly

Term ID

DOID:0080295

Synonyms

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/

References

• OMIM:617895

Ontology

Human Disease   ( DOID:0080295 )