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ONTOLOGY REPORT - ANNOTATIONS


Term:Oliver-McFarlane Syndrome
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Accession:DOID:9004301 term browser browse the term
Synonyms:exact_synonym: Congenital trichomegaly, pigmentary retinal degeneration, and short stature;   EYELASHES, LONG, WITH MENTAL RETARDATION;   Eyelashes long mental retardation;   OMCS;   TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA;   Trichomegaly retina pigmentary degeneration dwarfism
 primary_id: MESH:C536554;   RDO:0002172
 alt_id: OMIM:275400
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Oliver-McFarlane Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Oliver-McFarlane Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              retinal disease 704
                retinal degeneration 409
                  fundus dystrophy 263
                    retinitis pigmentosa 236
                      Oliver-McFarlane Syndrome 1
paths to the root