General Information of Disease (ID: DISWEONR)

Disease Name Tetraamelia syndrome 1
Synonyms TETAMS1; tetraamelia syndrome, autosomal recessive; Tetra-amelia syndrome 1; tetraamelia syndrome 1
Disease Hierarchy
DISTTV0J: Tetraamelia-multiple malformations syndrome
DIS5M94B: Non-syndromic limb reduction defect
DISWEONR: Tetraamelia syndrome 1
Disease Identifiers
MONDO ID
MONDO_0060764
UMLS CUI
C4012268
OMIM ID
273395
MedGen ID
860705

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
WNT3 OTT02WJ0 Definitive Autosomal recessive [1]
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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.