{
    "disease_id": "DOID:0070013",
    "recommended_name": {
        "id": "DOID:0070013",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070013",
        "name": "Seckel syndrome 2",
        "description": "A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070013",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070013",
            "name": "SCKL2",
            "description": ""
        },
        {
            "id": "DOID:0070013",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070013",
            "name": "Seckel-type dwarfism 2",
            "description": ""
        },
        {
            "id": "DOID:0070013",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070013",
            "name": "microcephalic primordial dwarfism 2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel syndrome 2",
            "description": "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene."
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel-type dwarfism 2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "microcephalic primordial dwarfism 2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "RBBP8 Seckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel syndrome 2; SCKL2",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "Seckel syndrome caused by mutation in RBBP8",
            "description": ""
        },
        {
            "id": "MONDO:0011715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011715",
            "name": "SCKL2",
            "description": ""
        },
        {
            "id": "MIM:606744",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606744",
            "name": "Seckel syndrome 2",
            "description": "Seckel syndrome 2"
        }
    ]
}