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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;   RDO:0000756
For additional species annotation, visit the Alliance of Genome Resources.


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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 17207
        disease of anatomical entity 16553
          musculoskeletal system disease 6418
            Musculoskeletal Abnormalities 2238
              Absent Patella 0
              Antecubital Pterygium 0
              CLOVES syndrome 2
              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 + 456
              Craniofacial Abnormalities + 1960
              Funnel Chest + 8
              Hajdu-Cheney syndrome 1
              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 2
              Klippel-Feil syndrome + 46
              Microcephaly, Short Stature, and Limb Abnormalities 1
              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 1
              Sacral Agenesis with Vertebral Anomalies 1
              Sacrococcygeal Dysgenesis Association 0
              Steel Syndrome 1
              Sternal Cleft 0
              Tracheobronchomalacia + 1
              Widow's Peak Syndrome 0
              ZTTK Syndrome 1
              acromesomelic dysplasia, Grebe type 1
              arthrogryposis multiplex congenita + 116
              campomelic dysplasia + 1
              gastroschisis + 5
              laryngomalacia + 1
              synostosis + 239
    Path 2
    Term Annotations click to browse term
      disease 17207
        Developmental Disease 10923
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
            Congenital Abnormalities 5588
              Musculoskeletal Abnormalities 2238
                Absent Patella 0
                Antecubital Pterygium 0
                CLOVES syndrome 2
                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 + 456
                Craniofacial Abnormalities + 1960
                Funnel Chest + 8
                Hajdu-Cheney syndrome 1
                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 2
                Klippel-Feil syndrome + 46
                Microcephaly, Short Stature, and Limb Abnormalities 1
                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 1
                Sacral Agenesis with Vertebral Anomalies 1
                Sacrococcygeal Dysgenesis Association 0
                Steel Syndrome 1
                Sternal Cleft 0
                Tracheobronchomalacia + 1
                Widow's Peak Syndrome 0
                ZTTK Syndrome 1
                acromesomelic dysplasia, Grebe type 1
                arthrogryposis multiplex congenita + 116
                campomelic dysplasia + 1
                gastroschisis + 5
                laryngomalacia + 1
                synostosis + 239
    paths to the root