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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
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
          Abnormalities, Drug-Induced + 5
          Abnormalities, Radiation-Induced 0
          Abnormalities, Severe Teratoid + 14
          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 + 1129
          Caudal Duplication Anomaly 1
          Complete Absence of Bile and Pancreatic Ducts 0
          Congenital Aural Atresia 1
          Congenital Microtia + 14
          Congenital Stridor 0
          Crane-Heise Syndrome 0
          Deal Barratt Dillon Syndrome 0
          Digestive System Abnormalities + 391
          Eye Abnormalities + 365
          Familial Cryptotia 0
          Gallbladder, Agenesis Of 0
          Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
          Laryngeal Cleft 0
          Laryngeal Web, Familial 0
          Lymphatic Abnormalities + 87
          Mondini Dysplasia 1
          Mullerian Aplasia 2
          Multiple Abnormalities + 1738
          Musculoskeletal Abnormalities + 1759
          NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 1
          Nervous System Malformations + 1084
          Pancreas Agenesis, Dorsal 0
          Renal and Mullerian Duct Hypoplasia + 5
          Respiratory System Abnormalities + 84
          Rhiny 0
          Saito Kuba Tsuruta Syndrome 0
          Schlegelberger Grote Syndrome 0
          Skin Abnormalities + 658
          Sprengel Deformity 0
          Stomatognathic System Abnormalities + 371
          Urogenital Abnormalities + 285
          Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
          chromosomal disease + 1720
          congenital diaphragmatic hernia + 57
          situs inversus + 53
          thyroid malformation + 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.