Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      chromosomal deletion syndrome 875
        chromosome 19q13.11 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 16092
    Pathological Conditions, Signs and Symptoms 8759
      Pathologic Processes 6172
        Chromosome Aberrations 1732
          Aneuploidy 1015
            Monosomy 918
              Chromosome Deletion 918
                chromosomal deletion syndrome 875
                  chromosome 19q13.11 deletion syndrome 1
paths to the root