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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 1q41-q42 deletion syndrome
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Accession:DOID:0060412 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. (DO)
Synonyms:exact_synonym: 1q41-q42 microdeletion syndrome;   1q41q42 microdeletion syndrome
 xref: GARD:3738;   MIM:612530;   MONDO:0012927;   ORDO:250999


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chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp2 tumor protein p53 binding protein, 2 ISS OMIM:612530 MouseDO NCBI chr13:96,620,429...96,677,090
Ensembl chr13:94,088,709...94,145,432 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      chromosomal deletion syndrome 1605
        chromosome 1q41-q42 deletion syndrome 2
          Holoprosencephaly 10 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Pathologic Processes 8329
        Chromosome Aberrations 2832
          Aneuploidy 1941
            Monosomy 1667
              Chromosome Deletion 1667
                chromosomal deletion syndrome 1605
                  chromosome 1q41-q42 deletion syndrome 2
                    Holoprosencephaly 10 1
paths to the root