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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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