Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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.

show annotations for term's descendants           Sort by:
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Nasopalpebral Lipoma Coloboma Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          skin disease 2715
            Skin Neoplasms 247
              skin benign neoplasm 69
                eyelid benign neoplasm 2
                  Nasopalpebral Lipoma Coloboma Syndrome 1
paths to the root