{
    "disease_id": "DOID:0070479",
    "recommended_name": {
        "id": "DOID:0070479",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070479",
        "name": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",
        "description": "An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070479",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070479",
            "name": "NEDSFF",
            "description": ""
        },
        {
            "id": "MONDO:0859295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859295",
            "name": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",
            "description": "A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene. It is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages."
        },
        {
            "id": "MONDO:0859295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859295",
            "name": "DPH5-related diphthamide-deficiency syndrome",
            "description": ""
        },
        {
            "id": "MIM:620070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620070",
            "name": "Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",
            "description": "Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070479"
    ],
    "unlinked_id_list": []
}