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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:oculoauricular syndrome
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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: OCACS;   SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME;   microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear
 primary_id: MESH:C567416
 alt_id: OMIM:612109
 xref: ORDO:157962

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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 chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281 		JBrowse link
G Hmx1 H6 family homeobox 1 ISO ClinVar Annotator: match by term: Oculoauricular syndrome OMIM
ClinVar		 PMID:18423520 PMID:25574057 PMID:25741868 PMID:28492532 NCBI chrNW_004955514:2,441,234...2,442,478 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      oculoauricular syndrome 2
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6160
            eye disease 3164
              Eye Abnormalities 733
                oculoauricular syndrome 2
paths to the root