{
    "disease_id": "DOID:0051067",
    "recommended_name": {
        "id": "DOID:0051067",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051067",
        "name": "Fontaine progeroid syndrome",
        "description": "A progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0051067",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051067",
            "name": "Gorlin-Chaudhry-Moss syndrome",
            "description": ""
        },
        {
            "id": "DOID:0051067",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051067",
            "name": "Progeroid Syndrome, Congenital, Petty Type",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Fontaine progeroid syndrome",
            "description": "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated."
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "FPS",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Fontaine progeroid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "GCM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "GCMS",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Gorlin Chaudhry Moss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Gorlin-Chaudhry-Moss Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Gorlin-Chaudhry-Moss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Petty syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Petty-Laxova-Wiedemann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "dental and eye anomalies, patent ductus arteriosus, and normal intelligence",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "progeroid syndrome Petty type",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "progeroid syndrome congenital Petty type",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "progeroid syndrome, Petty type",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "progeroid syndrome, congenital, Petty type",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Petty Laxova Wiedemann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Fontaine progeroid syndrome",
            "description": "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated."
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "FPS",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Fontaine progeroid syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "GCM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "GCMS",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Gorlin Chaudhry Moss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Gorlin-Chaudhry-Moss Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Gorlin-Chaudhry-Moss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Petty syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Petty-Laxova-Wiedemann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "dental and eye anomalies, patent ductus arteriosus, and normal intelligence",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "progeroid syndrome Petty type",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "progeroid syndrome congenital Petty type",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "progeroid syndrome, Petty type",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "progeroid syndrome, congenital, Petty type",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "Petty Laxova Wiedemann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012853",
            "name": "craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies",
            "description": ""
        },
        {
            "id": "MIM:612289",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612289",
            "name": "Fontaine progeroid syndrome",
            "description": "Fontaine progeroid syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051067"
    ],
    "unlinked_id_list": []
}