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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.



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Fetal Macrosomia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:mutations: : RGD PMID:17407387 PMID:19435144 RGD:12904698 RGD:12904767 NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) RGD PMID:10600655 RGD:2308786 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VAN ASPEREN SYNDROME
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr 9:40,794,772...40,809,022
Ensembl chr 9:40,795,297...40,808,737
JBrowse link
Perlman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism ClinVar PMID:25741868 NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033
JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 ISO OMIM NCBI chr25:43,754,382...44,099,497
Ensembl chr25:43,754,484...44,095,381
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13846
    Developmental Disease 10402
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8961
        Fetal Diseases 243
          Fetal Macrosomia 7
            Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
            Macrosomia with Lethal Microphthalmia 0
            Perlman syndrome 2
            Pseudotrisomy 13 Syndrome 0
            chromosome 17q11.2 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 13846
    Nutritional and Metabolic Diseases 4485
      disease of metabolism 4485
        acquired metabolic disease 2230
          carbohydrate metabolism disease 1255
            glucose metabolism disease 1255
              diabetes mellitus 1128
                Diabetes Complications 384
                  Fetal Macrosomia 7
                    Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
                    Macrosomia with Lethal Microphthalmia 0
                    Perlman syndrome 2
                    Pseudotrisomy 13 Syndrome 0
                    chromosome 17q11.2 deletion syndrome 1
paths to the root