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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 21128
        disease of anatomical entity 18212
          musculoskeletal system disease 8271
            Musculoskeletal Abnormalities 3287
              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 + 11
              Congenital Limb Deformities + 1021
              Craniofacial Abnormalities + 2640
              Female Pseudohermaphroditism with Skeletal Anomalies 0
              Funnel Chest + 11
              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 2
              Klippel-Feil syndrome + 52
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES 1
              NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES 15
              NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS 1
              OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 1
              Pectus Carinatum 1
              Pseudoarthrogryposis 0
              Sacral Agenesis with Vertebral Anomalies 1
              Sacrococcygeal Dysgenesis Association 0
              Short Stature with Nonspecific Skeletal Abnormalities 2
              Steel Syndrome 1
              Sternal Cleft 0
              Stolerman neurodevelopmental syndrome 1
              Tracheobronchomalacia + 2
              Widow's Peak Syndrome 0
              ZTTK Syndrome 26
              acromesomelic dysplasia, Grebe type 1
              arthrogryposis multiplex congenita + 242
              campomelic dysplasia + 1
              gastroschisis + 5
              laryngomalacia + 1
              microcephaly, short stature, and limb abnormalities 2
              synostosis + 375
    Path 2
    Term Annotations click to browse term
      disease 21128
        Developmental Disease 18448
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
            Congenital Abnormalities 7567
              Musculoskeletal Abnormalities 3287
                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 + 11
                Congenital Limb Deformities + 1021
                Craniofacial Abnormalities + 2640
                Female Pseudohermaphroditism with Skeletal Anomalies 0
                Funnel Chest + 11
                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 2
                Klippel-Feil syndrome + 52
                NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES 1
                NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES 1
                NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES 15
                NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS 1
                OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 1
                Pectus Carinatum 1
                Pseudoarthrogryposis 0
                Sacral Agenesis with Vertebral Anomalies 1
                Sacrococcygeal Dysgenesis Association 0
                Short Stature with Nonspecific Skeletal Abnormalities 2
                Steel Syndrome 1
                Sternal Cleft 0
                Stolerman neurodevelopmental syndrome 1
                Tracheobronchomalacia + 2
                Widow's Peak Syndrome 0
                ZTTK Syndrome 26
                acromesomelic dysplasia, Grebe type 1
                arthrogryposis multiplex congenita + 242
                campomelic dysplasia + 1
                gastroschisis + 5
                laryngomalacia + 1
                microcephaly, short stature, and limb abnormalities 2
                synostosis + 375
    paths to the root