Search Ontology:
Human Disease
amelogenesis imperfecta type 2A1
- Term ID
- DOID:0110057
- Synonyms
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- AI2A1
- amelogenesis imperfecta pigmented hypomaturation type 1
- amelogenesis imperfecta type IIA1
- Definition
- An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. (2)
- References
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- GARD:9495
- ICD10CM:K00.5
- MIM:204700
- Ontology
- Human Disease ( DOID:0110057 )
- is a type of
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Genes Involved
Zebrafish Models