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Metadata
ID DOID:0060945
PURL http://purl.obolibrary.org/obo/DOID_0060945 Copy
Name amelogenesis imperfecta type 1K
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/
Xrefs

GARD:5791

MIM:620104

ORDO:88661

Subsets

DO_rare_slim

Parent Relationships

is_a autosomal dominant disease

is_a amelogenesis imperfecta

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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