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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:Facial Neoplasms
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Accession:DOID:9007009 term browser browse the term
Definition:New abnormal growth of tissue in the FACE.
Synonyms:exact_synonym: Facial Neoplasm
 primary_id: MESH:D005153;   RDO:0004080


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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 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265 		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: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Facial hemangioma ClinVar PMID:31474318 NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of cellular proliferation 7914
      Neoplasms by Site 7370
        Head and Neck Neoplasms 1613
          Facial Neoplasms 3
            Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 1
            eyelid benign neoplasm + 2
paths to the root