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

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:oculoauricular syndrome
go back to main search page
Accession:DOID:0060482 term browser browse the term
Definition:A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. (DO)
Synonyms:exact_synonym: MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR;   OCACS;   SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME
 primary_id: MESH:C567416;   RDO:0015491
 alt_id: OMIM:612109
 xref: ORDO:157962
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
oculoauricular syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Hmx1 H6 family homeobox 1 ISO ClinVar Annotator: match by OMIM:612109
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18423520, PMID:19379485, PMID:25574057 NCBI chr14:80,540,558...80,544,607
Ensembl chr14:80,541,075...80,544,342
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      oculoauricular syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            Eye Abnormalities 365
              oculoauricular syndrome 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.