OBO ID: DOID:0111271
Term Name: Oliver-McFarlane syndrome Search Ontology:
Synonyms:
  • eyelashes long mental retardation
  • long eyelashes-intellectual disability syndrome
  • OMCS
  • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/25480986
References:
Ontology: Human Disease   (DOID:0111271)
OTHER Oliver-McFarlane syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNPLA6 Oliver-McFarlane syndrome 275400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None