short-rib thoracic dysplasia 9 with or without polydactyly

Term ID

DOID:0110097

Synonyms

• renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
• SRTD9

Definition

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/22503633

References

• ICD10CM:Q87.5
• OMIM:266920

Ontology

Human Disease   ( DOID:0110097 )