{
    "disease_id": "DOID:0070712",
    "recommended_name": {
        "id": "DOID:0070712",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070712",
        "name": "developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies",
        "description": "An autosomal recessive intellectual developmental disorder characterized by congenital anomalies that mainly affect the cardiac and/or renal systems, dysmorphic craniofacial features apparent from birth, and mild to moderate neurodevelopmental delay, usually with hypotonia, delayed walking, impaired intellectual development, and poor speech acquisition, that has_material_basis_in homozygous mutation in the PAN2 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070712",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070712",
            "name": "DEDCRF",
            "description": ""
        },
        {
            "id": "MONDO:0980727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980727",
            "name": "developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070712"
    ],
    "unlinked_id_list": []
}