short-rib thoracic dysplasia 7 with or without polydactyly

Term ID

DOID:0110090

Synonyms

• short rib-polydactyly syndrome type V
• SRPS5
• SRTD7

Definition

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. (2)

References

• ICD10CM:Q77.2
• OMIM:614091

Ontology

Human Disease   ( DOID:0110090 )