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DO Term : Camurati-Engelmann disease [DOID:4997] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.

synonyms:
MESH:D003966,
NCI:C84610,
UMLS_CUI:C0011989,
OMIM:606631,
GARD:1072,
ICD10CM:Q78.3,
606631,
131300,
SNOMEDCT_US_2023_03_01:34643004,
OMIM:131300,
progressive diaphyseal dysplasia,
Diaphyseal dysplasia,
Engelman's disease

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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