ONTOLOGY REPORT - ANNOTATIONS


Term:Fetal Macrosomia
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Accession:DOID:9002427 term browser browse the term
Definition:A condition of fetal overgrowth leading to a large-for-gestational-age FETUS. It is defined as BIRTH WEIGHT greater than 4,000 grams or above the 90th percentile for population and sex-specific growth curves. It is commonly seen in GESTATIONAL DIABETES; PROLONGED PREGNANCY; and pregnancies complicated by pre-existing diabetes mellitus.
Synonyms:exact_synonym: Fetal Macrosomias
 primary_id: MESH:D005320;   RDO:0001125
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Fetal Macrosomia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HNF4A hepatocyte nuclear factor 4 alpha JBrowse link 20 41,823,939 41,856,536 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,681,856 46,690,240 RGD:9068941
G LIPC lipase C, hepatic type JBrowse link 15 55,688,414 55,847,005 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 10 88,093,539 88,197,902 RGD:9068941
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF135 ring finger protein 135 JBrowse link 17 25,333,945 25,358,151 RGD:9068941
Perlman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 13 72,760,610 72,787,325 RGD:9068941
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 JBrowse link 2B 237,976,038 238,346,098 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11150
    Developmental Diseases 7190
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6261
        Fetal Diseases 164
          Fetal Macrosomia 8
            Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
            Macrosomia with Lethal Microphthalmia 0
            Perlman syndrome 2
            Pseudotrisomy 13 Syndrome 0
            chromosome 17q11.2 deletion syndrome, 1.4Mb 1
Path 2
Term Annotations click to browse term
  disease 11150
    Nutritional and Metabolic Diseases 3127
      disease of metabolism 3127
        acquired metabolic disease 1923
          carbohydrate metabolism disease 1131
            glucose metabolism disease 1131
              diabetes mellitus 1024
                Diabetes Complications 369
                  Fetal Macrosomia 8
                    Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
                    Macrosomia with Lethal Microphthalmia 0
                    Perlman syndrome 2
                    Pseudotrisomy 13 Syndrome 0
                    chromosome 17q11.2 deletion syndrome, 1.4Mb 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.