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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:Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2
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Accession:DOID:9009217 term browser browse the term
Definition:An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies.
Synonyms:exact_synonym: MGRISCE2
 xref: MIM:618097;   MONDO:0020628


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Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 OMIM
ClinVar		 PMID:25741868 PMID:26689913 PMID:28492532 PMID:30057030 PMID:37013609 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    syndrome 11278
      Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 465
        Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 1
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          monogenic disease 10876
            autosomal genetic disease 10360
              autosomal dominant disease 6696
                complex cortical dysplasia with other brain malformations 1635
                  Malformations of Cortical Development, Group I 1395
                    microcephaly 1144
                      Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 465
                        Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 1
paths to the root