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Metadata
ID DOID:0110057
Name amelogenesis imperfecta type 2A1
Definition An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.
https://www.ncbi.nlm.nih.gov/pubmed/15235027, https://www.ncbi.nlm.nih.gov/pubmed/23355523
Xrefs

GARD:9495

ICD10CM:K00.5

OMIM:204700

Subsets

DO_rare_slim

Synonyms

AI2A1 [EXACT]

amelogenesis imperfecta pigmented hypomaturation type 1 [EXACT]

amelogenesis imperfecta type IIA1 [EXACT]

Parent Relationships

is_a amelogenesis imperfecta

is_a autosomal recessive disease

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