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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
 xref: EFO:0003915



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    Term Annotations click to browse term
      disease 21128
        Developmental Disease 18449
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
            Congenital Abnormalities 7569
              AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
              Abnormalities, Drug-Induced + 5
              Abnormalities, Severe Teratoid + 21
              Absence of Nasal Bones 0
              Absence of Vagina 0
              Accessory Pancreas 0
              Agenesis of Gallbladder 1
              Aicardi syndrome 1
              Amastia + 2
              Arrhinia 0
              Atlanto-Axial Fusion 0
              Bresheck/Bresek Syndrome 0
              Cardiovascular Abnormalities + 1545
              Caudal Duplication Anomaly 1
              Complete Absence of Bile and Pancreatic Ducts 0
              Congenital Aural Atresia 2
              Congenital Microtia + 19
              Congenital Stridor 0
              Crane-Heise Syndrome 0
              Deal Barratt Dillon Syndrome 0
              Digestive System Abnormalities + 510
              Eye Abnormalities + 778
              Familial Cryptotia 0
              Familial Laryngeal Web 0
              Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
              Laryngeal Cleft 0
              Lymphatic Abnormalities + 99
              Mayer-Rokitansky-Kuster-Hauser syndrome + 3
              Mondini Dysplasia 1
              Multiple Abnormalities + 3680
              Musculoskeletal Abnormalities + 3288
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 2
              Nervous System Malformations + 2371
              Pancreas Agenesis, Dorsal 0
              Posterior Lumbosacral Vertebral Fusion with Blepharoptosis 0
              Radiation-Induced Abnormalities 0
              Renal and Mullerian Duct Hypoplasia + 8
              Respiratory System Abnormalities + 80
              Rhiny 0
              Saito Kuba Tsuruta Syndrome 0
              Schlegelberger Grote Syndrome 0
              Skin Abnormalities + 1296
              Sprengel Deformity 2
              Stomatognathic System Abnormalities + 574
              Urogenital Abnormalities + 441
              Zaki syndrome 1
              chromosomal disease + 2728
              congenital diaphragmatic hernia + 67
              situs inversus + 68
              thyroid malformation + 3
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