Search Ontology:
Human Disease

Oliver-McFarlane syndrome

Term ID
DOID:0111271
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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