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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:eyelid benign neoplasm
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Accession:DOID:2173 term browser browse the term
Definition:Tumors of cancer of the EYELIDS.
Synonyms:broad_synonym: eyelid neoplasm;   eyelid neoplasms;   tumor of the eyelid
 primary_id: MESH:D005142
 xref: NCI:C3031
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
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21484994 PMID:21834823 PMID:22581971 PMID:23167694 PMID:23401279 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28166811 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29364747 PMID:30426266 PMID:30569517 PMID:30974434 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    sensory system disease 5597
      sensory organ benign neoplasm 2
        eyelid benign neoplasm 2
          Nasopalpebral Lipoma Coloboma Syndrome 1
          Schopf-Schulz-Passarge syndrome 1
          malignant eyelid melanoma 0
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        sensory system disease 5597
          skin disease 2947
            Skin Neoplasms 250
              skin benign neoplasm 72
                eyelid benign neoplasm 2
                  Nasopalpebral Lipoma Coloboma Syndrome 1
                  Schopf-Schulz-Passarge syndrome 1
                  malignant eyelid melanoma 0
paths to the root