{
    "disease_id": "DOID:0070477",
    "recommended_name": {
        "id": "DOID:0070477",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070477",
        "name": "diphthamide deficiency syndrome 1",
        "description": "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070477",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070477",
            "name": "DEDSSH1",
            "description": ""
        },
        {
            "id": "DOID:0070477",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070477",
            "name": "DPH1 syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070477",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070477",
            "name": "Loucks-Innes syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070477",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070477",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 1",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 1",
            "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 DPH1 gene."
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "developmental delay-short stature-dysmorphic features-sparse hair syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "DEDSSH1",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "developmental delay with short stature, dysmorphic features, and sparse hair 1",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "diphtamide deficiency syndrome",
            "description": ""
        },
        {
            "id": "MIM:616901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616901",
            "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 1",
            "description": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070477"
    ],
    "unlinked_id_list": []
}