Details of Disease

General Information of Disease (ID: DISKJHDA)

Disease Name Caudal duplication
Synonyms caudal DUPLICATION anomaly; dipygus; split notochord syndrome
Definition Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DIS7JDYJ: Gastrointestinal disease
DISKJHDA: Caudal duplication
Disease Identifiers
MONDO ID
MONDO_0011928
MESH ID
C564315
UMLS CUI
C1842884
OMIM ID
607864
MedGen ID
335822
Orphanet ID
1756

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
AXIN1 OTRGZGZ5 Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.