Details of Disease

General Information of Disease (ID: DIS84O7L)

Disease Name Tetraamelia syndrome 2
Synonyms TETAMS2; tetraamelia syndrome 2 with pulmonary agenesis; tetraamelia syndrome 2
Disease Hierarchy
DISTTV0J: Tetraamelia-multiple malformations syndrome
DIS5M94B: Non-syndromic limb reduction defect
DIS84O7L: Tetraamelia syndrome 2
Disease Identifiers
MONDO ID
MONDO_0060732
UMLS CUI
C4747923
OMIM ID
618021
MedGen ID
1648284

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
RSPO2 OT3HHXU0 Strong Autosomal recessive [1]
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References

1 [Anthroposophic medicine]. Tidsskr Nor Laegeforen. 1986 Feb 20;106(5):426-31.