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Metadata
ID DOID:0070708
PURL http://purl.obolibrary.org/obo/DOID_0070708 Copy
Name dentin dysplasia with sclerotic bones
Definition A syndrome characterized by osteosclerosis of all long bones with heavy cortical bone and narrowed or occluded marrow spaces, and apparently pulpless teeth with radiolucent chevrons; short, blunted roots; and radiolucent apical area that has_material_basis_in autosomal dominant inheritance.
https://pubmed.ncbi.nlm.nih.gov/264650/
Xrefs

GARD:1808

MESH:C538213

MIM:125440

ORDO:99792

SNOMEDCT_US_2025_09_01:770943008

UMLS_CUI:C1852201

UMLS_CUI:C4749611

SKOS

exactMatch MIM:125440

exactMatch GARD:1808

exactMatch MESH:C538213

exactMatch ORDO:99792

Subsets

DO_rare_slim

Synonyms

dentin dysplasia-sclerotic bones syndrome [EXACT]

Parent Relationships

is_a tooth disease

is_a autosomal dominant disease

is_a syndrome

is_a bone disease

Subclass Logical Relationships

disease has feature some dentin dysplasia

disease has location some bone element

has material basis in some autosomal dominant inheritance

disease has location some calcareous tooth

disease has feature some osteosclerosis

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