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 44,355,801 44,432,845 RGD:12904698
RGD:12904767
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:12743591
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 45,912,245 45,921,272 RGD:12743591
G LIPC lipase C, hepatic type JBrowse link 15 58,410,457 58,568,952 RGD:2308786
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,438 87,971,930 RGD:8554872
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 30,968,642 30,999,911 RGD:8554872
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 72,755,402 72,782,128 RGD:8554872
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 JBrowse link 2 231,961,583 232,343,968 RGD:8554872
RGD:11554173
RGD:7240710
G MIR562 microRNA 562 JBrowse link 2 232,172,653 232,172,747 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15498
    Developmental Diseases 9002
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7331
        Fetal Diseases 180
          Fetal Macrosomia 9
            Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
            Macrosomia with Lethal Microphthalmia 0
            Perlman syndrome 3
            Pseudotrisomy 13 Syndrome 0
            chromosome 17q11.2 deletion syndrome, 1.4Mb 1
Path 2
Term Annotations click to browse term
  disease 15498
    Nutritional and Metabolic Diseases 4355
      disease of metabolism 4355
        acquired metabolic disease 2932
          carbohydrate metabolism disease 1522
            glucose metabolism disease 1522
              diabetes mellitus 1405
                Diabetes Complications 388
                  Fetal Macrosomia 9
                    Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
                    Macrosomia with Lethal Microphthalmia 0
                    Perlman syndrome 3
                    Pseudotrisomy 13 Syndrome 0
                    chromosome 17q11.2 deletion syndrome, 1.4Mb 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.