{
    "disease_id": "DOID:0060483",
    "recommended_name": {
        "id": "DOID:0060483",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060483",
        "name": "MEDNIK syndrome",
        "description": "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060483",
            "name": "erythrokeratodermia variabilis 3",
            "description": ""
        },
        {
            "id": "DOID:0060483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060483",
            "name": "erythrokeratodermia variabilis, Kamouraska type",
            "description": ""
        },
        {
            "id": "DOID:0060483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060483",
            "name": "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "MEDNIK syndrome",
            "description": "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)."
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "erythrokeratodermia variabilis 3",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "erythrokeratodermia variabilis, Kamouraska type",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "MEDNIK",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma",
            "description": ""
        },
        {
            "id": "MIM:609313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609313",
            "name": "MEDNIK syndrome",
            "description": "MEDNIK syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060483"
    ],
    "unlinked_id_list": []
}