{
    "disease_id": "DOID:0060603",
    "recommended_name": {
        "id": "DOID:0060603",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060603",
        "name": "isolated anhidrosis with normal sweat glands",
        "description": "An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11."
    },
    "synonyms": [
        {
            "id": "DOID:0060603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060603",
            "name": "Dann-Epstein-Sohar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "isolated anhidrosis with normal sweat glands",
            "description": "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene."
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "Dann-Epstein-Sohar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "ITPR2 anhidrosis",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "anhidrosis caused by mutation in ITPR2",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "ANHD",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "anhidrosis, isolated, with normal sweat glands",
            "description": ""
        },
        {
            "id": "MONDO:0007118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007118",
            "name": "isolated generalised anhidrosis with normal sweat glands",
            "description": ""
        },
        {
            "id": "MIM:106190",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/106190",
            "name": "Anhidrosis, isolated, with normal sweat glands",
            "description": "Anhidrosis, isolated, with normal sweat glands"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060603"
    ],
    "unlinked_id_list": []
}