{
    "disease_id": "DOID:0060055",
    "recommended_name": {
        "id": "DOID:0060055",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060055",
        "name": "popliteal pterygium syndrome",
        "description": "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1."
    },
    "synonyms": [
        {
            "id": "DOID:0060055",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060055",
            "name": "facio-genito-popliteal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060055",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060055",
            "name": "popliteal web syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "autosomal dominant popliteal pterygium syndrome",
            "description": "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail."
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "popliteal pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "PPS",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "popliteal pterygium syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "faciogenitopopliteal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "popliteal pterygium syndrome; PPS",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "popliteal web syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0007334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007334",
            "name": "facio-genito-popliteal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "Bartsocas-Papas syndrome",
            "description": "Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported."
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "lethal popliteal pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "multiple pterygium syndrome, Aslan type",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "pterygium popliteal lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "autosomal recessive popliteal pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "Bartsocas Papas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "popliteal pterygium syndrome lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "popliteal pterygium syndrome, Bartsocas-Papas type",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "BPS",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "pterygium, popliteal, lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "Bartsocas-Papas syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009901",
            "name": "popliteal pterygium syndrome, lethal type",
            "description": ""
        },
        {
            "id": "MIM:119500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/119500",
            "name": "Popliteal pterygium syndrome",
            "description": "Popliteal pterygium syndrome"
        },
        {
            "id": "MIM:263650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/263650",
            "name": "Bartsocas-Papas syndrome",
            "description": "Bartsocas-Papas syndrome"
        }
    ]
}