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 24 31,847,864 31,908,337 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941
G LIPC lipase C, hepatic type JBrowse link 30 23,432,460 23,584,037 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 26 37,853,148 37,913,176 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 9 40,794,772 40,809,022 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 22 26,908,502 26,935,368 RGD:9068941
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 JBrowse link 25 43,754,382 44,099,497 RGD:7240710
RGD:9068941

Term paths to the root
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Term Annotations click to browse term
  disease 11301
    Developmental Diseases 7251
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6308
        Fetal Diseases 166
          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 11301
    Nutritional and Metabolic Diseases 3222
      disease of metabolism 3222
        acquired metabolic disease 2001
          carbohydrate metabolism disease 1175
            glucose metabolism disease 1175
              diabetes mellitus 1067
                Diabetes Complications 374
                  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.