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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
For additional species annotation, visit the Alliance of Genome Resources.



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    Term Annotations click to browse term
      disease 18032
        Developmental Disease 12742
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
            Congenital Abnormalities 6483
              AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
              Abnormalities, Drug-Induced + 5
              Abnormalities, Radiation-Induced 0
              Abnormalities, Severe Teratoid + 16
              Absence of Nasal Bones 0
              Absence of Vagina 0
              Accessory Pancreas 0
              Agenesis of Gallbladder 1
              Aicardi syndrome 0
              Amastia + 1
              Arrhinia 0
              Atlanto-Axial Fusion 0
              Bresheck/Bresek Syndrome 0
              Cardiovascular Abnormalities + 1202
              Caudal Duplication Anomaly 1
              Complete Absence of Bile and Pancreatic Ducts 0
              Congenital Aural Atresia 1
              Congenital Microtia + 18
              Congenital Stridor 0
              Crane-Heise Syndrome 0
              Deal Barratt Dillon Syndrome 0
              Digestive System Abnormalities + 489
              Eye Abnormalities + 458
              Familial Cryptotia 0
              Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
              Laryngeal Cleft 0
              Laryngeal Web, Familial 0
              Lymphatic Abnormalities + 87
              Mayer-Rokitansky-Kuster-Hauser syndrome + 3
              Mondini Dysplasia 1
              Multiple Abnormalities + 2970
              Musculoskeletal Abnormalities + 2678
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 2
              Nervous System Malformations + 2028
              Pancreas Agenesis, Dorsal 0
              Renal and Mullerian Duct Hypoplasia + 7
              Respiratory System Abnormalities + 80
              Rhiny 0
              Saito Kuba Tsuruta Syndrome 0
              Schlegelberger Grote Syndrome 0
              Skin Abnormalities + 1055
              Sprengel Deformity 0
              Stomatognathic System Abnormalities + 420
              Urogenital Abnormalities + 376
              Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
              ZAKI SYNDROME 1
              chromosomal disease + 2165
              congenital diaphragmatic hernia + 61
              situs inversus + 64
              thyroid malformation + 3
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