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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:chromosome 19q13.11 deletion syndrome
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Accession:DOID:0060408 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. (DO)
Synonyms:exact_synonym: 19q13.11 microdeletion syndrome;   chromosome 19q13.11 deletion syndrome, distal;   monosomy 19q13.11
 primary_id: MESH:C567810
 alt_id: OMIM:613026
 xref: GARD:10592;   ORDO:217346
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 19q13.11 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba2 ubiquitin-like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:90,010,681...90,035,522
Ensembl chr 1:90,011,306...90,035,522
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      chromosomal deletion syndrome 871
        chromosome 19q13.11 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Pathologic Processes 6130
        Chromosome Aberrations 1723
          Aneuploidy 1009
            Monosomy 913
              Chromosome Deletion 913
                chromosomal deletion syndrome 871
                  chromosome 19q13.11 deletion syndrome 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.