Details of Disease

General Information of Disease (ID: DISIN2WF)

Disease Name Amelogenesis imperfecta type 1C
Synonyms
amelogenesis imperfecta, local hypoplastic type, autosomal recessive; amelogenesis imperfecta, type IC; amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive; autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion; autosomal recessive amelogenesis imperfecta local hypoplastic type; amelogenesis imperfecta, type 1C; amelogenesis imperfecta type IC; AI1C
Disease Hierarchy
DISVEG5A: Amelogenesis imperfecta type 1
DISIN2WF: Amelogenesis imperfecta type 1C
Disease Identifiers
MONDO ID
MONDO_0008770
MESH ID
C567147
UMLS CUI
C2673923
OMIM ID
204650
MedGen ID
388763

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
ENAM OTK8PU0T Strong Autosomal recessive [1]
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References

1 Diagnostic criteria for non-traumatic osteonecrosis of the femoral head. A multicentre study. J Bone Joint Surg Br. 1999 Jul;81(4):590-5. doi: 10.1302/0301-620x.81b4.9393.