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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 2p16.1-p15 deletion syndrome
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Accession:DOID:0060415 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. (DO)
Synonyms:exact_synonym: 2p15-p16.1 microdeletion syndrome;   2p15p16.1 microdeletion syndrome
 primary_id: MESH:C567289
 alt_id: MIM:612513
 xref: GARD:13391;   ICD10CM:Q93.5;   ORDO:261349


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chromosome 2p16.1-p15 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp34 ubiquitin specific peptidase 34 ISO ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome ClinVar NCBI chr14:97,285,799...97,476,376
Ensembl chr14:97,286,018...97,476,376 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      chromosomal deletion syndrome 1528
        chromosome 2p16.1-p15 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Pathologic Processes 8259
        Chromosome Aberrations 2748
          Aneuploidy 1864
            Monosomy 1590
              Chromosome Deletion 1590
                chromosomal deletion syndrome 1528
                  chromosome 2p16.1-p15 deletion syndrome 1
paths to the root