Details of Disease

General Information of Disease (ID: DISDA0ZL)

Disease Name Amelogenesis imperfecta, IIa 1K
Synonyms amelogenesis imperfecta, IIa 1K; AI1K; amelogenesis imperfecta, hypoplastic IIa 1K
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISDA0ZL: Amelogenesis imperfecta, IIa 1K
Disease Identifiers
MONDO ID
MONDO_0031084
UMLS CUI
C5774246
OMIM ID
620104
MedGen ID
1824019

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
SP6 OTRAB1PN Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 The development of several organs and appendages is impaired in mice lacking Sp6. Dev Dyn. 2008 Apr;237(4):883-92. doi: 10.1002/dvdy.21355.