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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:Oliver-McFarlane syndrome
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Accession:DOID:0111271 term browser browse the term
Definition:A syndrome 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: OMCS;   congenital trichomegaly, pigmentary retinal degeneration, and short stature;   long eyelashes with mental retardation;   long eyelashes, mental retardation;   long eyelashes-intellectual disability syndrome;   trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina;   trichomegaly, pigmentary retina degeneration, dwarfism;   trichomegaly-retina pigmentary degeneration-dwarfism syndrome
 primary_id: MESH:C536554
 alt_id: OMIM:275400
 xref: GARD:5266;   ORDO:3363
For additional species annotation, visit the Alliance of Genome Resources.


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Oliver-McFarlane syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Oliver-McFarlane syndrome
ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
ClinVar
OMIM
PMID:3963113, PMID:8053762, PMID:18313024, PMID:20603202, PMID:24355708, PMID:25480986, PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Oliver-McFarlane syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            retinal disease 780
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 266
                    Oliver-McFarlane syndrome 1
paths to the root

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