{
    "disease_id": "DOID:0070150",
    "recommended_name": {
        "id": "DOID:0070150",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070150",
        "name": "hereditary sensory and autonomic neuropathy type 2B",
        "description": "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15."
    },
    "synonyms": [
        {
            "id": "DOID:0070150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070150",
            "name": "hereditary sensory and autonomic neuropathy type IIB",
            "description": ""
        },
        {
            "id": "DOID:0070150",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070150",
            "name": "HSAN2B",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "neuropathy, hereditary sensory and autonomic, type 2B",
            "description": "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene."
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "HSAN2B",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "RETREG1 hereditary sensory and autonomic neuropathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "neuropathy, hereditary sensory and autonomic, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0013142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013142",
            "name": "neuropathy, hereditary sensory and autonomic, type IIB",
            "description": ""
        },
        {
            "id": "MIM:613115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613115",
            "name": "Neuropathy, hereditary sensory and autonomic, 2B",
            "description": "Neuropathy, hereditary sensory and autonomic, 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070150"
    ],
    "unlinked_id_list": []
}
