{
    "disease_id": "DOID:0070153",
    "recommended_name": {
        "id": "DOID:0070153",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070153",
        "name": "hereditary sensory and autonomic neuropathy type 8",
        "description": "A hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0070153",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070153",
            "name": "hereditary sensory and autonomic neuropathy type VIII",
            "description": ""
        },
        {
            "id": "DOID:0070153",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070153",
            "name": "HSAN8",
            "description": ""
        },
        {
            "id": "MONDO:0014662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014662",
            "name": "congenital insensitivity to pain-hypohidrosis syndrome",
            "description": "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34."
        },
        {
            "id": "MONDO:0014662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014662",
            "name": "CIP-hypohidrosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014662",
            "name": "HSAN8",
            "description": ""
        },
        {
            "id": "MONDO:0014662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014662",
            "name": "hereditary sensory and autonomic neuropathy type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014662",
            "name": "hereditary sensory and autonomic neuropathy type VIII",
            "description": ""
        },
        {
            "id": "MONDO:0014662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014662",
            "name": "neuropathy, hereditary sensory and autonomic, type VIII",
            "description": ""
        },
        {
            "id": "MIM:616488",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616488",
            "name": "Neuropathy, hereditary sensory and autonomic, 8",
            "description": "Neuropathy, hereditary sensory and autonomic, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070153"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070153",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070153",
            "categories": []
        },
        {
            "id": "MONDO:0014662",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014662",
            "categories": []
        },
        {
            "id": "MIM:616488",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616488",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2AJ77-1",
            "uniprot_ac": "A2AJ77",
            "uniprot_id": "PRD12_MOUSE",
            "refseq_ac": "NP_001116834",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 12",
                    "type": "recommended"
                },
                {
                    "name": "PR domain zinc finger protein 12",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm12",
                    "type": "recommended"
                },
                {
                    "name": "Gm998",
                    "type": "synonym"
                },
                {
                    "name": "Prdm12",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AJ77-1",
            "evidence": [
                {
                    "id": "0070153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4Q4-1",
            "uniprot_ac": "Q9H4Q4",
            "uniprot_id": "PRD12_HUMAN",
            "refseq_ac": "NP_067632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 12",
                    "type": "recommended"
                },
                {
                    "name": "PR domain containing 12",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 12",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRDM12",
                    "type": "recommended"
                },
                {
                    "name": "HSAN8",
                    "type": "synonym"
                },
                {
                    "name": "PFM9",
                    "type": "synonym"
                },
                {
                    "name": "PRDM12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4Q4-1",
            "evidence": [
                {
                    "id": "616488",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616488"
                },
                {
                    "id": "0070153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZEJ0-1",
            "uniprot_ac": "D3ZEJ0",
            "uniprot_id": "D3ZEJ0_RAT",
            "refseq_ac": "NP_001414289",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 12",
                    "type": "recommended"
                },
                {
                    "name": "PR domain 12",
                    "type": "synonym"
                },
                {
                    "name": "PR domain containing 12",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 12",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm12",
                    "type": "recommended"
                },
                {
                    "name": "Prdm12",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZEJ0-1",
            "evidence": [
                {
                    "id": "0070153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070153"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070153"
}