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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Oliver-McFarlane syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                retinal degeneration 407
                  fundus dystrophy 264
                    retinitis pigmentosa 242
                      Oliver-McFarlane syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.