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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
 alt_id: OMIM:167730


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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 1:63,239,517...63,353,735
Ensembl chr 1:63,312,424...63,353,735 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    syndrome 10387
      Nasopalpebral Lipoma Coloboma Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Neurologic Manifestations 9852
          sensory system disease 6828
            skin disease 3911
              Skin Neoplasms 512
                skin benign neoplasm 196
                  eyelid benign neoplasm 2
                    Nasopalpebral Lipoma Coloboma Syndrome 1
paths to the root