{
    "disease_id": "DOID:0112194",
    "recommended_name": {
        "id": "DOID:0112194",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112194",
        "name": "Filippi syndrome",
        "description": "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112194",
            "name": "Scott craniodigital syndrome with mental retardation",
            "description": ""
        },
        {
            "id": "DOID:0112194",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112194",
            "name": "type 1 syndactyly-microcephaly-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "Filippi syndrome",
            "description": "Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive."
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "Filippi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "type 1 syndactyly-microcephaly-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "FLPIS",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "Scott craniodigital syndrome with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "syndactyly type I with microcephaly and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "syndactyly type I with microcephaly and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "syndactyly, type I, with microcephaly and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0010092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010092",
            "name": "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly",
            "description": ""
        },
        {
            "id": "MIM:272440",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/272440",
            "name": "Filippi syndrome",
            "description": "Filippi syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112194"
    ],
    "unlinked_id_list": []
}