Details of Disease

General Information of Disease (ID: DIS6OOZU)

Disease Name Short-rib thoracic dysplasia 7 with or without polydactyly
Synonyms SRPS5; short rib-polydactyly syndrome, type 5; short rib-polydactyly syndrome type 5; SRTD7; short-rib thoracic dysplasia 7 with or without polydactyly; short rib-polydactyly syndrom type V
Definition An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
Disease Hierarchy
DISLC357: Jeune syndrome
DIS6OOZU: Short-rib thoracic dysplasia 7 with or without polydactyly
Disease Identifiers
MONDO ID
MONDO_0013569
UMLS CUI
C3279792
OMIM ID
614091
MedGen ID
481422
Orphanet ID
498497

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WDR35 OTAFVPBO Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.