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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:Mosaic Variegated Aneuploidy Syndrome 6
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Accession:DOID:9005150 term browser browse the term
Definition:An autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Caused by homozygous or compound heterozygous mutation in the SMC5 gene on chromosome 9q21.
Synonyms:exact_synonym: ATELS2;   Atelis syndrome 2;   MVA6;   POOR GROWTH, MICROCEPHALY, DYSMORPHIC FACIES, AND CARDIAC DEFECTS
 primary_id: OMIM:620185

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Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc5 structural maintenance of chromosomes 5 ISO ClinVar Annotator: match by term: Atelis syndrome 2 ClinVar
OMIM		 PMID:36333305 NCBI chrNW_004624736:2,697,764...2,803,501
Ensembl chrNW_004624736:2,700,161...2,803,439 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    syndrome 9294
      mosaic variegated aneuploidy syndrome 9
        Mosaic Variegated Aneuploidy Syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 14102
    Developmental Disease 12293
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11525
        genetic disease 11216
          monogenic disease 9421
            autosomal genetic disease 8754
              autosomal dominant disease 5777
                complex cortical dysplasia with other brain malformations 1520
                  Malformations of Cortical Development, Group I 1315
                    microcephaly 1088
                      Mosaic Variegated Aneuploidy Syndrome 6 1
paths to the root