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DOID:0111271 - Oliver-McFarlane syndrome
Disease Ontology 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.
Synonyms: eyelashes long mental retardation, long eyelashes-intellectual disability syndrome, OMCS, trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Xenbase Genes
:
pnpla6
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)