Search Ontology:
Human Disease
amelogenesis imperfecta type 1K
- Term ID
- DOID:0060945
- Synonyms
-
- Definition
- An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/33652941/
- References
-
- GARD:5791
- MIM:620104
- ORDO:88661
- Ontology
- Human Disease ( DOID:0060945 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models