{
    "disease_id": "DOID:2736", 
    "crossref_internal": {
        "protein": [
            "Q04721-1"
        ]
    }, 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007057", 
            "resource": "MONDO", 
            "description": "", 
            "name": "acroosteolysis dominant type", 
            "id": "MONDO:0007057"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007057", 
            "resource": "MONDO", 
            "description": "", 
            "name": "HJCYS", 
            "id": "MONDO:0007057"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007057", 
            "resource": "MONDO", 
            "description": "", 
            "name": "acroosteolysis with osteoporosis and changes in skull and mandible", 
            "id": "MONDO:0007057"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007057", 
            "resource": "MONDO", 
            "description": "", 
            "name": "Hajdu-Cheney syndrome; HJCYS", 
            "id": "MONDO:0007057"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007057", 
            "resource": "MONDO", 
            "description": "", 
            "name": "serpentine fibula-polycystic kidneys syndrome", 
            "id": "MONDO:0007057"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007057", 
            "resource": "MONDO", 
            "description": "", 
            "name": "acrodentoosteodysplasia", 
            "id": "MONDO:0007057"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007057", 
            "resource": "MONDO", 
            "description": "", 
            "name": "Cheney syndrome", 
            "id": "MONDO:0007057"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007057", 
            "resource": "MONDO", 
            "description": "", 
            "name": "Arthrodentoosteodysplasia", 
            "id": "MONDO:0007057"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007057", 
            "resource": "MONDO", 
            "description": "", 
            "name": "serpentine fibula-polycystic kidney syndrome", 
            "id": "MONDO:0007057"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2736", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "Cheney syndrome", 
            "id": "DOID:2736"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2736", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "HJCYS", 
            "id": "DOID:2736"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2736", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "SFPKS", 
            "id": "DOID:2736"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2736", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "arthrodentoosteodysplasia", 
            "id": "DOID:2736"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2736", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "acroosteolysis with osteoporosis and changes in skull and mandible", 
            "id": "DOID:2736"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:2736", 
            "resource": "Disease Ontology", 
            "description": "", 
            "name": "serpentine fibula-polycystic kidney syndrome", 
            "id": "DOID:2736"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:2736", 
        "resource": "Disease Ontology", 
        "description": "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12.", 
        "name": "Hajdu-Cheney syndrome", 
        "id": "DOID:2736"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/102500", 
            "id": "102500", 
            "database": "MIM"
        }
    ]
}