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


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  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        Congenital Abnormalities 3601
          AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
          Abnormalities, Drug-Induced + 5
          Abnormalities, Radiation-Induced 0
          Abnormalities, Severe Teratoid + 14
          Absence of Vagina 0
          Accessory Pancreas 0
          Aicardi syndrome 0
          Amastia + 1
          Arrhinia 0
          Atlanto-Axial Fusion 0
          Bile and Pancreatic Ducts, Complete Absence of 0
          Bresheck/Bresek Syndrome 0
          Cardiovascular Abnormalities + 917
          Caudal Duplication Anomaly 1
          Congenital Aural Atresia 1
          Congenital Microtia + 18
          Congenital Stridor 0
          Crane-Heise Syndrome 0
          Deal Barratt Dillon Syndrome 0
          Digestive System Abnormalities + 318
          Eye Abnormalities + 279
          Familial Cryptotia 0
          Gallbladder, Agenesis Of 0
          Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
          Laryngeal Cleft 0
          Laryngeal Web, Familial 0
          Lymphatic Abnormalities + 60
          Mondini Dysplasia 1
          Mullerian Aplasia 2
          Multiple Abnormalities + 1600
          Musculoskeletal Abnormalities + 1303
          NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 1
          Nasal Bones, Absence of 0
          Nervous System Malformations + 742
          Pancreas Agenesis, Dorsal 0
          Patterson Stevenson Syndrome + 2
          Renal and Mullerian Duct Hypoplasia + 3
          Respiratory System Abnormalities + 64
          Rhiny 0
          Saito Kuba Tsuruta Syndrome 0
          Schlegelberger Grote Syndrome 0
          Skin Abnormalities + 501
          Sprengel Deformity 0
          Stomatognathic System Abnormalities + 305
          Urinary Tract Abnormalities + 2
          Urogenital Abnormalities + 231
          Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
          chromosomal disease + 788
          congenital diaphragmatic hernia + 53
          situs inversus + 52
          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.