{
    "disease_id": "DOID:0070478",
    "recommended_name": {
        "id": "DOID:0070478",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070478",
        "name": "diphthamide deficiency syndrome 2",
        "description": "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070478",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070478",
            "name": "DEDSSH2",
            "description": ""
        },
        {
            "id": "DOID:0070478",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070478",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 2",
            "description": ""
        },
        {
            "id": "MONDO:0100217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100217",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 2",
            "description": "Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene."
        },
        {
            "id": "MONDO:0100217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100217",
            "name": "DEDSSH2",
            "description": ""
        },
        {
            "id": "MONDO:0100217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100217",
            "name": "diphthamide deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:620062",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620062",
            "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2",
            "description": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2"
        }
    ]
}