{
    "disease_id": "DOID:0070688",
    "recommended_name": {
        "id": "DOID:0070688",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070688",
        "name": "autosomal recessive congenital indifference to pain",
        "description": "A neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. Hyposmia or anosmia is also common."
    },
    "synonyms": [
        {
            "id": "DOID:0070688",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070688",
            "name": "channelopathy-associated insensitivity to pain",
            "description": ""
        },
        {
            "id": "MONDO:0009459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009459",
            "name": "channelopathy-associated congenital insensitivity to pain, autosomal recessive",
            "description": "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)"
        },
        {
            "id": "MONDO:0009459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009459",
            "name": "channelopathy-associated CIP",
            "description": ""
        },
        {
            "id": "MONDO:0009459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009459",
            "name": "insensitivity to pain, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0009459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009459",
            "name": "neuropathy, hereditary sensory and autonomic, type IID",
            "description": ""
        },
        {
            "id": "MONDO:0009459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009459",
            "name": "CIP",
            "description": ""
        },
        {
            "id": "MONDO:0009459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009459",
            "name": "HSAN2D",
            "description": ""
        },
        {
            "id": "MONDO:0009459",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009459",
            "name": "indifference to pain, congenital, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:243000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/243000",
            "name": "Indifference to pain, congenital, autosomal recessive",
            "description": "Indifference to pain, congenital, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070688"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070688",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070688",
            "categories": []
        },
        {
            "id": "MONDO:0009459",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009459",
            "categories": []
        },
        {
            "id": "MIM:243000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/243000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q15858-1",
            "uniprot_ac": "Q15858",
            "uniprot_id": "SCN9A_HUMAN",
            "refseq_ac": "NP_001352465",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 9 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Neuroendocrine sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "PN1",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type IX subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "hNE-Na",
                    "type": "synonym"
                },
                {
                    "name": "neuroendocrine sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "peripheral sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 9 subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 9 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type IX subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IX, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IX, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel alpha subunit Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN9A",
                    "type": "recommended"
                },
                {
                    "name": "ETHA",
                    "type": "synonym"
                },
                {
                    "name": "FEB3B",
                    "type": "synonym"
                },
                {
                    "name": "GEFSP7",
                    "type": "synonym"
                },
                {
                    "name": "HSAN2D",
                    "type": "synonym"
                },
                {
                    "name": "NE-NA",
                    "type": "synonym"
                },
                {
                    "name": "NENA",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.7",
                    "type": "synonym"
                },
                {
                    "name": "PN1",
                    "type": "synonym"
                },
                {
                    "name": "SCN9A",
                    "type": "synonym"
                },
                {
                    "name": "SFNP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15858-1",
            "evidence": [
                {
                    "id": "243000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/243000"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070688"
}