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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 development disease
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Accession:DOID:0080006 term browser browse the term
Definition:A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. (DO)
Synonyms:exact_synonym: bone dysplasia;   bone dysplasias;   developmental bone disease;   developmental bone diseases
 narrow_synonym: BMPR1A SKELETAL DYSPLASIA SYNDROME
 related_synonym: sclerosing bone dysplasias
 primary_id: MESH:D001848
 xref: EFO:0005541



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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 19076
        Developmental Disease 14561
          bone development disease 2366
            APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS 1
            Acro-Osteolysis + 20
            Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
            Angel Shaped Phalangoepiphyseal Dysplasia 0
            BOUDIN-MORTIER SYNDROME 1
            Baby Rattle Pelvis Dysplasia 0
            Battaglia Neri Syndrome 0
            Bazopoulou Kyrkanidou Syndrome 0
            Bellini Chiumello Rimoldi Syndrome 0
            Bent Bone Dysplasia Syndrome + 3
            Blount's disease 0
            Brachymesomelia Renal Syndrome 0
            Brittle Bone Disorder 0
            CHOPS Syndrome 1
            Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
            Cervical Vertebral Dysplasia 0
            Conductive Deafness with Ptosis and Skeletal Anomalies 0
            Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 0
            Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 0
            Disproportionate Tall Stature 8
            Dwarfism + 865
            Dysplasia Epiphysealis Hemimelica + 0
            EVEN-PLUS SYNDROME 1
            Elsahy-Waters syndrome 1
            Fountain Syndrome 0
            Fuhrmann syndrome 1
            Funnel Chest + 11
            Gigantism + 76
            Gorham's disease + 1
            Gracile Bone Dysplasia 1
            Gurrieri Sammito Bellussi Syndrome 0
            Hall Riggs Mental Retardation Syndrome 0
            KBG syndrome 49
            Kozlowski Rafinski Klicharska Syndrome 0
            Kozlowski Warren Fisher Syndrome 0
            Kyphomelic Dysplasia 0
            Leg Length Inequality 0
            Lenz-Majewski hyperostotic dwarfism 1
            Lethal Bone Dysplasia, Holmgren Type 0
            Lissencephaly Type III and Bone Dysplasia 0
            MICROMELIA 1
            Macroepiphyseal Dysplasia, McAlister Coe Type 0
            Marfan syndrome + 235
            Marshall-Smith syndrome 6
            Membranous Cranial Ossification, Delayed 0
            Mesomelic Limb Shortening and Bowing 0
            Miura type epiphyseal chondrodysplasia 2
            NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA 1
            Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 1
            Osteofibrous Dysplasia 1
            Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
            PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 1
            Patterson Pseudoleprechaunism Syndrome 0
            Pectus Carinatum 1
            Platybasia + 0
            Pointer Syndrome 0
            Prenatal Bowing 0
            Proteus syndrome + 2
            RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE 1
            RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES 1
            Radius Absent Anogenital Anomalies 0
            Rhizomelic Dysplasia Patterson Lowry Type 0
            Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 0
            Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 0
            Rhizomelic Syndrome 0
            Roifman-Chitayat Syndrome 2
            SHOX-related short stature 1
            Santos Syndrome 0
            Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 1
            Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
            Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies + 2
            Shwachman-Diamond Syndrome 2 1
            Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
            Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 1
            Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 0
            Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
            Spranger Schinzel Myers Syndrome 0
            Stoll Levy Francfort Syndrome 0
            Trichoodontoonychial Dysplasia 0
            Ulnar Hypoplasia with Mental Retardation 0
            Verheij Syndrome 1
            Vertebral Body Fusion Overgrowth 0
            Weismann Netter Syndrome 0
            Wiedemann Oldigs Oppermann Syndrome 0
            camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
            clubfoot + 34
            craniolenticulosutural dysplasia 1
            developmental dysplasia of the hip + 3
            dysostosis + 630
            mandibuloacral dysplasia + 3
            nevoid basal cell carcinoma syndrome + 15
            osteochondrodysplasia + 867
            split hand-foot malformation + 65
            vitamin D-dependent rickets + 12
    Path 2
    Term Annotations click to browse term
      disease 19076
        disease of anatomical entity 18367
          musculoskeletal system disease 8464
            connective tissue disease 5941
              bone disease 4396
                bone development disease 2366
                  APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS 1
                  Acro-Osteolysis + 20
                  Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
                  Angel Shaped Phalangoepiphyseal Dysplasia 0
                  BOUDIN-MORTIER SYNDROME 1
                  Baby Rattle Pelvis Dysplasia 0
                  Battaglia Neri Syndrome 0
                  Bazopoulou Kyrkanidou Syndrome 0
                  Bellini Chiumello Rimoldi Syndrome 0
                  Bent Bone Dysplasia Syndrome + 3
                  Blount's disease 0
                  Brachymesomelia Renal Syndrome 0
                  Brittle Bone Disorder 0
                  CHOPS Syndrome 1
                  Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
                  Cervical Vertebral Dysplasia 0
                  Conductive Deafness with Ptosis and Skeletal Anomalies 0
                  Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 0
                  Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 0
                  Disproportionate Tall Stature 8
                  Dwarfism + 865
                  Dysplasia Epiphysealis Hemimelica + 0
                  EVEN-PLUS SYNDROME 1
                  Elsahy-Waters syndrome 1
                  Fountain Syndrome 0
                  Fuhrmann syndrome 1
                  Funnel Chest + 11
                  Gigantism + 76
                  Gorham's disease + 1
                  Gracile Bone Dysplasia 1
                  Gurrieri Sammito Bellussi Syndrome 0
                  Hall Riggs Mental Retardation Syndrome 0
                  KBG syndrome 49
                  Kozlowski Rafinski Klicharska Syndrome 0
                  Kozlowski Warren Fisher Syndrome 0
                  Kyphomelic Dysplasia 0
                  Leg Length Inequality 0
                  Lenz-Majewski hyperostotic dwarfism 1
                  Lethal Bone Dysplasia, Holmgren Type 0
                  Lissencephaly Type III and Bone Dysplasia 0
                  MICROMELIA 1
                  Macroepiphyseal Dysplasia, McAlister Coe Type 0
                  Marfan syndrome + 235
                  Marshall-Smith syndrome 6
                  Membranous Cranial Ossification, Delayed 0
                  Mesomelic Limb Shortening and Bowing 0
                  Miura type epiphyseal chondrodysplasia 2
                  NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA 1
                  Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 1
                  Osteofibrous Dysplasia 1
                  Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
                  PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 1
                  Patterson Pseudoleprechaunism Syndrome 0
                  Pectus Carinatum 1
                  Platybasia + 0
                  Pointer Syndrome 0
                  Prenatal Bowing 0
                  Proteus syndrome + 2
                  RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE 1
                  RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES 1
                  Radius Absent Anogenital Anomalies 0
                  Rhizomelic Dysplasia Patterson Lowry Type 0
                  Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 0
                  Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 0
                  Rhizomelic Syndrome 0
                  Roifman-Chitayat Syndrome 2
                  SHOX-related short stature 1
                  Santos Syndrome 0
                  Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 1
                  Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
                  Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies + 2
                  Shwachman-Diamond Syndrome 2 1
                  Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
                  Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 1
                  Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 0
                  Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
                  Spranger Schinzel Myers Syndrome 0
                  Stoll Levy Francfort Syndrome 0
                  Trichoodontoonychial Dysplasia 0
                  Ulnar Hypoplasia with Mental Retardation 0
                  Verheij Syndrome 1
                  Vertebral Body Fusion Overgrowth 0
                  Weismann Netter Syndrome 0
                  Wiedemann Oldigs Oppermann Syndrome 0
                  camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
                  clubfoot + 34
                  craniolenticulosutural dysplasia 1
                  developmental dysplasia of the hip + 3
                  dysostosis + 630
                  mandibuloacral dysplasia + 3
                  nevoid basal cell carcinoma syndrome + 15
                  osteochondrodysplasia + 867
                  split hand-foot malformation + 65
                  vitamin D-dependent rickets + 12
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