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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 17q11.2 deletion syndrome
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Accession:DOID:0060403 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO)
Synonyms:exact_synonym: 17q11 microdeletion syndrome;   MMFD;   NF1 microdeletion syndrome;   Van Asperen syndrome;   chromosome 17q11.2 deletion syndrome, 1.4Mb;   macrocephaly, macrosomia, and facial dysmorphism syndrome;   macrocephaly, macrosomia, facial dysmorphism syndrome;   neurofibromatosis type 1 microdeletion syndrome
 primary_id: MESH:C563524
 alt_id: OMIM:613675;   OMIM:614192
 xref: ICD10CM:Q85.0;   ORDO:97685
For additional species annotation, visit the Alliance of Genome Resources.


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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: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 NCBI chr10:67,531,989...67,551,237 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      chromosomal deletion syndrome 876
        chromosome 17q11.2 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of cellular proliferation 5923
      cancer 4247
        organ system cancer 4072
          nervous system cancer 1611
            peripheral nervous system neoplasm 129
              Nerve Sheath Neoplasms 55
                peripheral nerve sheath neoplasm 22
                  neurofibroma 21
                    neurofibromatosis 13
                      chromosome 17q11.2 deletion syndrome 1
paths to the root