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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:Congenital Abnormalities
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Accession:DOID:9005835 term browser browse the term
Definition:Malformations of organs or body parts during development in utero.
Synonyms:exact_synonym: Birth Defect;   Birth Defects;   Congenital Abnormality;   Congenital Defect;   Congenital Defects;   Deformities;   Deformity
 primary_id: MESH:D000013;   RDO:0000761
For additional species annotation, visit the Alliance of Genome Resources.



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  • Term paths to the root
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    Term Annotations click to browse term
      disease 13842
        Developmental Disease 10392
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8945
            Congenital Abnormalities 5430
              AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
              Abnormalities, Drug-Induced + 5
              Abnormalities, Radiation-Induced 0
              Abnormalities, Severe Teratoid + 13
              Absence of Nasal Bones 0
              Absence of Vagina 0
              Accessory Pancreas 0
              Aicardi syndrome 0
              Amastia + 1
              Arrhinia 0
              Atlanto-Axial Fusion 0
              Bresheck/Bresek Syndrome 0
              Cardiovascular Abnormalities + 1077
              Caudal Duplication Anomaly 1
              Complete Absence of Bile and Pancreatic Ducts 0
              Congenital Aural Atresia 1
              Congenital Microtia + 16
              Congenital Stridor 0
              Crane-Heise Syndrome 0
              Deal Barratt Dillon Syndrome 0
              Digestive System Abnormalities + 511
              Eye Abnormalities + 384
              Familial Cryptotia 0
              Gallbladder, Agenesis Of 0
              Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
              Laryngeal Cleft 0
              Laryngeal Web, Familial 0
              Lymphatic Abnormalities + 75
              Mayer-Rokitansky-Kuster-Hauser syndrome + 4
              Mondini Dysplasia 1
              Multiple Abnormalities + 2365
              Musculoskeletal Abnormalities + 2197
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 2
              Nervous System Malformations + 1622
              Pancreas Agenesis, Dorsal 0
              Renal and Mullerian Duct Hypoplasia + 3
              Respiratory System Abnormalities + 70
              Rhiny 0
              Saito Kuba Tsuruta Syndrome 0
              Schlegelberger Grote Syndrome 0
              Skin Abnormalities + 740
              Sprengel Deformity 0
              Stomatognathic System Abnormalities + 364
              Urogenital Abnormalities + 320
              Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
              chromosomal disease + 1860
              congenital diaphragmatic hernia + 50
              situs inversus + 47
              thyroid malformation + 1
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