ZFIN Human Disease: Oliver-McFarlane syndrome

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:	GARD:5266 MESH:C536554 OMIM:275400 ORDO:3363 SNOMEDCT_US_2023_03_01:719944006 UMLS_CUI:C1848745
Ontology:	Human Disease ( DOID:0111271 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Oliver-McFarlane syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PNPLA6	pnpla6	Oliver-McFarlane syndrome	275400

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None