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Term:Oliver-McFarlane syndrome
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Accession:DOID:0111271 term browser browse the term
Definition:An autosomal recessive disease characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)
Synonyms:exact_synonym: EYELASHES, LONG, WITH MENTAL RETARDATION;   Eyelashes long mental retardation;   OMCS;   Trichomegaly retina pigmentary degeneration dwarfism;   congenital trichomegaly, pigmentary retinal degeneration, and short stature;   long eyelashes-intellectual disability syndrome;   trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina;   trichomegaly-retina pigmentary degeneration-dwarfism syndrome
 primary_id: MESH:C536554
 alt_id: DOID:9004301;   OMIM:275400;   RDO:0002172
 xref: GARD:5266;   ORDO:3363
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Oliver-McFarlane syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              retinal disease 716
                retinal degeneration 408
                  fundus dystrophy 265
                    retinitis pigmentosa 242
                      Oliver-McFarlane syndrome 1
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