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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:Musculoskeletal Abnormalities
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Accession:DOID:9005004 term browser browse the term
Definition:Congenital structural abnormalities and deformities of the musculoskeletal system.
Synonyms:exact_synonym: Musculoskeletal Abnormality
 primary_id: MESH:D009139


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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 21086
        disease of anatomical entity 18146
          musculoskeletal system disease 8193
            Musculoskeletal Abnormalities 3217
              Absent Patella 0
              Antecubital Pterygium 0
              CLOVES syndrome 3
              CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 1
              Cervical Rib Syndrome + 0
              Cohen-Gibson Syndrome 1
              Congenital Absence of Gluteal Muscles 0
              Congenital Absence of the Sternocleidomastoid Muscle 0
              Congenital Hip Dislocation + 10
              Congenital Limb Deformities + 1027
              Craniofacial Abnormalities + 2567
              Female Pseudohermaphroditism with Skeletal Anomalies 0
              Funnel Chest + 10
              Hajdu-Cheney syndrome 11
              IMAGAWA-MATSUMOTO SYNDROME 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES 1
              Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
              Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 1
              Iridogoniodysgenesis and Skeletal Anomalies 0
              Kleefstra syndrome 2 7
              Klippel-Feil syndrome + 52
              Microcephaly, Short Stature, and Limb Abnormalities 1
              NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES 19
              NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS 1
              Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 1
              OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 1
              Pectus Carinatum 1
              Pseudoarthrogryposis 0
              SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 2
              Sacral Agenesis with Vertebral Anomalies 1
              Sacrococcygeal Dysgenesis Association 0
              Steel Syndrome 1
              Sternal Cleft 0
              Tracheobronchomalacia + 2
              Widow's Peak Syndrome 0
              ZTTK Syndrome 27
              acromesomelic dysplasia, Grebe type 1
              arthrogryposis multiplex congenita + 232
              campomelic dysplasia + 1
              gastroschisis + 5
              laryngomalacia + 1
              synostosis + 377
    Path 2
    Term Annotations click to browse term
      disease 21086
        Developmental Disease 18380
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18236
            Congenital Abnormalities 7501
              Musculoskeletal Abnormalities 3217
                Absent Patella 0
                Antecubital Pterygium 0
                CLOVES syndrome 3
                CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 1
                Cervical Rib Syndrome + 0
                Cohen-Gibson Syndrome 1
                Congenital Absence of Gluteal Muscles 0
                Congenital Absence of the Sternocleidomastoid Muscle 0
                Congenital Hip Dislocation + 10
                Congenital Limb Deformities + 1027
                Craniofacial Abnormalities + 2567
                Female Pseudohermaphroditism with Skeletal Anomalies 0
                Funnel Chest + 10
                Hajdu-Cheney syndrome 11
                IMAGAWA-MATSUMOTO SYNDROME 1
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES 1
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
                Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 1
                Iridogoniodysgenesis and Skeletal Anomalies 0
                Kleefstra syndrome 2 7
                Klippel-Feil syndrome + 52
                Microcephaly, Short Stature, and Limb Abnormalities 1
                NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES 1
                NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES 19
                NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS 1
                Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 1
                OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 1
                Pectus Carinatum 1
                Pseudoarthrogryposis 0
                SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 2
                Sacral Agenesis with Vertebral Anomalies 1
                Sacrococcygeal Dysgenesis Association 0
                Steel Syndrome 1
                Sternal Cleft 0
                Tracheobronchomalacia + 2
                Widow's Peak Syndrome 0
                ZTTK Syndrome 27
                acromesomelic dysplasia, Grebe type 1
                arthrogryposis multiplex congenita + 232
                campomelic dysplasia + 1
                gastroschisis + 5
                laryngomalacia + 1
                synostosis + 377
    paths to the root