{
    "disease_id": "DOID:0081362",
    "recommended_name": {
        "id": "DOID:0081362",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081362",
        "name": "Pierpont syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "DOID:0081362",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081362",
            "name": "Plantar lipomatosis-facial dysmorphism-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081362",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081362",
            "name": "Plantar lipomatosis-unusual facies-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "Pierpont syndrome",
            "description": "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear."
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "Pierpont syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "plantar lipomatosis-facial dysmorphism-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "plantar lipomatosis-unusual facies-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011213",
            "name": "PRPTS",
            "description": ""
        },
        {
            "id": "MIM:602342",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602342",
            "name": "Pierpont syndrome",
            "description": "Pierpont syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081362"
    ],
    "unlinked_id_list": []
}