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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:Nasopalpebral Lipoma Coloboma Syndrome
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Accession:DOID:9005806 term browser browse the term
Synonyms:exact_synonym: Palpebral coloboma lipoma Syndrome
 primary_id: MESH:C538338;   RDO:0004302
For additional species annotation, visit the Alliance of Genome Resources.


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Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome ClinVar PMID:23636874, PMID:27139419 NCBI chr 9:70,052,088...70,090,847
Ensembl chr 9:70,059,683...70,089,778
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Nasopalpebral Lipoma Coloboma Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            Skin Neoplasms 230
              skin benign neoplasm 50
                eyelid benign neoplasm 2
                  Nasopalpebral Lipoma Coloboma 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.