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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:Telecanthus
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Accession:DOID:9003591 term browser browse the term
Synonyms:primary_id: MESH:C562941
 alt_id: MIM:187350



show annotations for term's descendants           Sort by:
Telecanthus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Telecanthus ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:54,940,768...55,090,151 JBrowse link
G Foxc1 forkhead box C1 ISO associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) RGD PMID:17653043 RGD:12904051 NCBI chr17:32,631,379...32,635,361 JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Telecanthus ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977 JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: ADAMTS18-related condition | ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus OMIM
ClinVar
PMID:22686506 PMID:23818446 PMID:24874986 PMID:25741868 PMID:28492532 More... NCBI chr19:41,686,951...41,840,035 JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:300000
ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM
CTD
MouseDO
ClinVar
PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chr  X:24,116,674...24,491,205 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        Musculoskeletal Abnormalities 3456
          Craniofacial Abnormalities 2778
            Telecanthus 5
              Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
              Opitz GBBB syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        Congenital Abnormalities 7885
          Musculoskeletal Abnormalities 3456
            Craniofacial Abnormalities 2778
              Telecanthus 5
                Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
                Opitz GBBB syndrome 1
paths to the root