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Metadata
ID DOID:4154
Name dentinogenesis imperfecta
Definition A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.
https://pubmed.ncbi.nlm.nih.gov/19021896/
Xrefs

GARD:6258

ICD10CM:K00.5

MESH:D003811

NCI:C84667

OMIM:125490

OMIM:125500

ORDO:49042

SNOMEDCT_US_2023_03_01:367461002

UMLS_CUI:C0011436

Subsets

DO_rare_slim

NCIthesaurus

Parent Relationships

is_a tooth disease

is_a autosomal dominant disease

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