ONTOLOGY REPORT - ANNOTATIONS


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
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
          Abnormalities, Drug-Induced + 5
          Abnormalities, Radiation-Induced 0
          Abnormalities, Severe Teratoid + 14
          Abnormalities, Urinary Tract + 2
          Accessory Pancreas 0
          Aicardi syndrome 0
          Amastia + 1
          Arrhinia 0
          Atlanto-Axial Fusion 0
          Aural Atresia, Congenital 1
          Bile and Pancreatic Ducts, Complete Absence of 0
          Bresheck/Bresek Syndrome 0
          Cardiovascular Abnormalities + 782
          Caudal Duplication Anomaly 1
          Congenital Microtia + 18
          Crane-Heise Syndrome 0
          Deal Barratt Dillon Syndrome 0
          Digestive System Abnormalities + 266
          Eye Abnormalities + 287
          Familial Cryptotia 0
          Gallbladder, Agenesis Of 0
          Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
          Laryngeal Cleft 0
          Laryngeal Web, Familial 0
          Lymphatic Abnormalities + 47
          Mondini Dysplasia 1
          Mullerian Aplasia 2
          Multiple Abnormalities + 1278
          Musculoskeletal Abnormalities + 1196
          Nasal Bones, Absence of 0
          Nervous System Malformations + 664
          Pancreas Agenesis, Dorsal 0
          Patterson Stevenson Syndrome + 2
          Renal and Mullerian Duct Hypoplasia + 3
          Respiratory System Abnormalities + 70
          Rhiny 0
          Saito Kuba Tsuruta Syndrome 0
          Schlegelberger Grote Syndrome 0
          Skin Abnormalities + 346
          Sprengel Deformity 0
          Stomatognathic System Abnormalities + 295
          Stridor, Congenital 0
          Urogenital Abnormalities + 247
          Vagina, Absence of 0
          Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
          chromosomal disease + 658
          congenital diaphragmatic hernia + 53
          situs inversus + 54
          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.