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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
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Path 1
Term Annotations click to browse term
  disease 13834
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6090
      Congenital Abnormalities 3387
        AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
        Abnormalities, Drug-Induced + 5
        Abnormalities, Multiple + 1908
        Abnormalities, Radiation-Induced 0
        Abnormalities, Severe Teratoid + 16
        Abnormalities, Urinary Tract + 1
        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 + 699
        Caudal Duplication Anomaly 1
        Congenital Microtia + 18
        Crane-Heise Syndrome 0
        Cryptotia, Familial 0
        Deal Barratt Dillon Syndrome 0
        Digestive System Abnormalities + 262
        Eye Abnormalities + 257
        Gallbladder, Agenesis Of 0
        HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 1
        Hernias, Diaphragmatic, Congenital + 40
        Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
        Laryngeal Cleft 0
        Laryngeal Web, Familial 0
        Lymphatic Abnormalities + 43
        Mondini Dysplasia 1
        Mullerian Aplasia 0
        Musculoskeletal Abnormalities + 995
        Nasal Bones, Absence of 0
        Nervous System Malformations + 613
        Pancreas Agenesis, Dorsal 0
        Patterson Stevenson Syndrome + 3
        RENAL HYPODYSPLASIA/APLASIA 3 1
        Renal Hypodysplasia/Aplasia 2 1
        Renal and Mullerian Duct Hypoplasia + 1
        Respiratory System Abnormalities + 64
        Rhiny 0
        Saito Kuba Tsuruta Syndrome 0
        Schlegelberger Grote Syndrome 0
        Skin Abnormalities + 331
        Sprengel Deformity 0
        Stomatognathic System Abnormalities + 248
        Stridor, Congenital 0
        Urogenital Abnormalities + 225
        Vagina, Absence of 0
        Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
        chromosomal disease + 1121
        situs inversus + 47
        thyroid malformation + 3
Path 2
Term Annotations click to browse term
  disease 13834
    Developmental Diseases 6506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6090
        Congenital Abnormalities 3387
          AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
          Abnormalities, Drug-Induced + 5
          Abnormalities, Multiple + 1908
          Abnormalities, Radiation-Induced 0
          Abnormalities, Severe Teratoid + 16
          Abnormalities, Urinary Tract + 1
          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 + 699
          Caudal Duplication Anomaly 1
          Congenital Microtia + 18
          Crane-Heise Syndrome 0
          Cryptotia, Familial 0
          Deal Barratt Dillon Syndrome 0
          Digestive System Abnormalities + 262
          Eye Abnormalities + 257
          Gallbladder, Agenesis Of 0
          HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 1
          Hernias, Diaphragmatic, Congenital + 40
          Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
          Laryngeal Cleft 0
          Laryngeal Web, Familial 0
          Lymphatic Abnormalities + 43
          Mondini Dysplasia 1
          Mullerian Aplasia 0
          Musculoskeletal Abnormalities + 995
          Nasal Bones, Absence of 0
          Nervous System Malformations + 613
          Pancreas Agenesis, Dorsal 0
          Patterson Stevenson Syndrome + 3
          RENAL HYPODYSPLASIA/APLASIA 3 1
          Renal Hypodysplasia/Aplasia 2 1
          Renal and Mullerian Duct Hypoplasia + 1
          Respiratory System Abnormalities + 64
          Rhiny 0
          Saito Kuba Tsuruta Syndrome 0
          Schlegelberger Grote Syndrome 0
          Skin Abnormalities + 331
          Sprengel Deformity 0
          Stomatognathic System Abnormalities + 248
          Stridor, Congenital 0
          Urogenital Abnormalities + 225
          Vagina, Absence of 0
          Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
          chromosomal disease + 1121
          situs inversus + 47
          thyroid malformation + 3
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