Details of Disease

General Information of Disease (ID: DISHHZEF)

Disease Name Amelogenesis imperfecta, type 3c
Synonyms AI3C; AMELOGENESIS IMPERFECTA, TYPE IIIC; Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISHHZEF: Amelogenesis imperfecta, type 3c
Disease Identifiers
MONDO ID
MONDO_0032717
UMLS CUI
C5193069
OMIM ID
618386
MedGen ID
1676410

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
RELT OT419II2 Strong Autosomal recessive [1]
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References

1 Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet. 2019 Mar;95(3):375-383. doi: 10.1111/cge.13487. Epub 2018 Dec 21.