{
    "disease_id": "DOID:0111271",
    "recommended_name": {
        "id": "DOID:0111271",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111271",
        "name": "Oliver-McFarlane syndrome",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111271",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111271",
            "name": "OMCS",
            "description": ""
        },
        {
            "id": "DOID:0111271",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111271",
            "name": "eyelashes long mental retardation",
            "description": ""
        },
        {
            "id": "DOID:0111271",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111271",
            "name": "long eyelashes-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111271",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111271",
            "name": "trichomegaly-retina pigmentary degeneration-dwarfism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "trichomegaly-retina pigmentary degeneration-dwarfism syndrome",
            "description": "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability."
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina",
            "description": ""
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "long eyelashes-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "Oliver-McFarlane syndrome; OMCS",
            "description": ""
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "Oliver-McFarlane syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina",
            "description": ""
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "Oliver McFarlane syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "eyelashes, long, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "OMCS",
            "description": ""
        },
        {
            "id": "MONDO:0010152",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010152",
            "name": "eyelashes, long with intellectual disability",
            "description": ""
        },
        {
            "id": "MIM:275400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/275400",
            "name": "Oliver-McFarlane syndrome",
            "description": "Oliver-McFarlane syndrome"
        }
    ]
}