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Metadata
ID DOID:0111271
Name Oliver-McFarlane 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
Xrefs

GARD:5266

MESH:C536554

OMIM:275400

ORDO:3363

SNOMEDCT_US_2023_03_01:719944006

UMLS_CUI:C1848745

Subsets

DO_rare_slim

Synonyms

eyelashes long mental retardation [EXACT]

long eyelashes-intellectual disability syndrome [EXACT]

OMCS [EXACT]

trichomegaly-retina pigmentary degeneration-dwarfism syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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