Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/125420
http://purl.bioontology.org/ontology/OMIM/125420
Preferred Name

DENTIN DYSPLASIA, TYPE II
Synonyms
DENTIN DYSPLASIA, SHIELDS TYPE II
ANOMALOUS DYSPLASIA OF DENTIN
PULPAL DYSPLASIA
DTDP2
CORONAL DENTIN DYSPLASIA
PULP STONES
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DENTIN DYSPLASIA, SHIELDS TYPE II
ANOMALOUS DYSPLASIA OF DENTIN
PULPAL DYSPLASIA
DTDP2
CORONAL DENTIN DYSPLASIA
PULP STONES
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prefLabel
DENTIN DYSPLASIA, TYPE II
Gene Symbol
DSPP
DGI1
DFNA39
DPP
DTDP2
Scope Statement
Allelic to dentinogenesis imperfecta 1 (125490) [MISCELLANEOUS]
Caused by mutation in the dentin sialophosphoprotein gene (DSPP, 125485.0005) [MOLECULAR BASIS]
type
Has manifestation
tui
T047
T019
Gene Locus
4q21.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
125420
Semantic type UMLS property
Has inheritance type
cui
C1527284
C0399380
OMIM Entry Type
3
OMIM MimType Value
pound
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