{
    "disease_id": "DOID:0070476",
    "recommended_name": {
        "id": "DOID:0070476",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070476",
        "name": "diphthamide deficiency syndrome",
        "description": "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2)."
    },
    "synonyms": [
        {
            "id": "DOID:0070476",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070476",
            "name": "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070476",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070476",
            "name": "DEDSSH",
            "description": ""
        },
        {
            "id": "DOID:0070476",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070476",
            "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 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": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "Loucks-Innes 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": "DOID:0070479",
            "label": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070478",
            "label": "diphthamide deficiency syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070477",
            "label": "diphthamide deficiency syndrome 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070479",
        "DOID:0070477",
        "DOID:0070476",
        "DOID:0070478"
    ],
    "unlinked_id_list": []
}