| 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 |
SNOMEDCT_US_2023_03_01:719944006 |
| 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 |