short-rib thoracic dysplasia 10 with or without polydactyly

Term ID

DOID:0110091

Synonyms

• SRTD10

Definition

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/24140113

References

• ICD10CM:Q77.2
• ICD10CM:Q87.5
• OMIM:615630

Ontology

Human Disease   ( DOID:0110091 )