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Disease Ontology Browser
Oliver-McFarlane syndrome (DOID:0111271)
Alliance: disease page
Synonyms: eyelashes long mental retardation; long eyelashes-intellectual disability syndrome; OMCS; trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Alt IDs: OMIM:275400, ORDO:3363, UMLS_CUI:C1848745
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory