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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:bone disease
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Accession:DOID:0080001 term browser browse the term
Definition:A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. (DO)
Synonyms:exact_synonym: bone diseases;   skeletal disease;   skeletal disorder
 narrow_synonym: disorder of patella
 primary_id: MESH:D001847
 xref: EFO:0004260;   EFO:0009665;   ICD10CM:M89.9


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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 19139
        disease of anatomical entity 18451
          musculoskeletal system disease 8462
            bone disease 4369
              ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME 1
              Bone Cysts + 21
              Bone Malalignment + 3
              Bone Neoplasms + 712
              Catel Manzke syndrome 2
              Cloverleaf Skull Micromelia Thoracic Dysplasia 0
              Coxa Magna 0
              Coxa Valga 0
              Endocrine Bone Diseases + 360
              Eosinophilic Granuloma 0
              Expansile Bone Lesions 0
              Genu Valgum + 2
              Genu Varum + 1
              Hamamy Syndrome 1
              Ho Kaufman Mcalister Syndrome 0
              Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
              Infectious Bone Diseases + 64
              Joint Dislocations + 24
              Metabolic Bone Diseases + 391
              Myoectodermal Gonadal Dysgenesis Syndrome 4
              NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES 1
              Osteootohepatoenteric Syndrome 1
              Sclerosing Bone Dysplasia, Mental Retardation 0
              Slipped Epiphyses + 0
              Trochlea of the Humerus, Aplasia of 0
              Whyte Murphy Syndrome 0
              bejel 0
              bone benign neoplasm + 32
              bone development disease + 2387
              bone inflammation disease + 1561
              bone remodeling disease + 509
              bone resorption disease + 374
              bone structure disease + 134
              cystic echinococcosis 5
              fibular collateral ligament bursitis 0
              geroderma osteodysplasticum 1
              ischemic bone disease + 31
              neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2
              orbital disease + 103
              osteochondrosis + 6
              paracoccidioidomycosis + 13
              primary hypertrophic osteoarthropathy + 2
              proximal symphalangism + 6
              sphenoid sinusitis + 0
              spinal disease + 1080
              tibial muscular dystrophy 1
              visceral leishmaniasis 34
              yaws + 0
    Path 2
    Term Annotations click to browse term
      disease 19139
        disease of anatomical entity 18451
          musculoskeletal system disease 8462
            connective tissue disease 5919
              bone disease 4369
                ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME 1
                Bone Cysts + 21
                Bone Malalignment + 3
                Bone Neoplasms + 712
                Catel Manzke syndrome 2
                Cloverleaf Skull Micromelia Thoracic Dysplasia 0
                Coxa Magna 0
                Coxa Valga 0
                Endocrine Bone Diseases + 360
                Eosinophilic Granuloma 0
                Expansile Bone Lesions 0
                Genu Valgum + 2
                Genu Varum + 1
                Hamamy Syndrome 1
                Ho Kaufman Mcalister Syndrome 0
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
                Infectious Bone Diseases + 64
                Joint Dislocations + 24
                Metabolic Bone Diseases + 391
                Myoectodermal Gonadal Dysgenesis Syndrome 4
                NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES 1
                Osteootohepatoenteric Syndrome 1
                Sclerosing Bone Dysplasia, Mental Retardation 0
                Slipped Epiphyses + 0
                Trochlea of the Humerus, Aplasia of 0
                Whyte Murphy Syndrome 0
                bejel 0
                bone benign neoplasm + 32
                bone development disease + 2387
                bone inflammation disease + 1561
                bone remodeling disease + 509
                bone resorption disease + 374
                bone structure disease + 134
                cystic echinococcosis 5
                fibular collateral ligament bursitis 0
                geroderma osteodysplasticum 1
                ischemic bone disease + 31
                neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2
                orbital disease + 103
                osteochondrosis + 6
                paracoccidioidomycosis + 13
                primary hypertrophic osteoarthropathy + 2
                proximal symphalangism + 6
                sphenoid sinusitis + 0
                spinal disease + 1080
                tibial muscular dystrophy 1
                visceral leishmaniasis 34
                yaws + 0
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