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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 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        Congenital Abnormalities 4465
          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
          Bile and Pancreatic Ducts, Complete Absence of 0
          Bresheck/Bresek Syndrome 0
          Cardiovascular Abnormalities + 1089
          Caudal Duplication Anomaly 1
          Congenital Aural Atresia 1
          Congenital Microtia + 14
          Congenital Stridor 0
          Crane-Heise Syndrome 0
          Deal Barratt Dillon Syndrome 0
          Digestive System Abnormalities + 443
          Eye Abnormalities + 334
          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 + 1677
          Musculoskeletal Abnormalities + 1497
          NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 1
          Nervous System Malformations + 856
          Pancreas Agenesis, Dorsal 0
          Renal and Mullerian Duct Hypoplasia + 4
          Respiratory System Abnormalities + 64
          Rhiny 0
          Saito Kuba Tsuruta Syndrome 0
          Schlegelberger Grote Syndrome 0
          Skin Abnormalities + 612
          Sprengel Deformity 0
          Stomatognathic System Abnormalities + 346
          Urinary Tract Abnormalities + 2
          Urogenital Abnormalities + 233
          Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
          chromosomal disease + 1552
          congenital diaphragmatic hernia + 55
          situs inversus + 50
          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.