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| Term | Oliver-McFarlane syndrome | ID (Ontology) | DOID:0111271 (Human Disease) |
| 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. | ||
| Also Known As | "eyelashes long mental retardation" ; "long eyelashes-intellectual disability syndrome" ; "OMCS" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| Oliver-McFarlane syndrome 6 rec. |
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| Is a |
autosomal recessive disease syndrome |
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External Crossreferences & Linkouts
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GARD:5266 MESH:C536554 MIM:275400 ORDO:3363 SNOMEDCT_US_2023_03_01:719944006 UMLS_CUI:C1848745 |
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