{
    "disease_id": "DOID:0070149",
    "recommended_name": {
        "id": "DOID:0070149",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070149",
        "name": "hereditary sensory and autonomic neuropathy type 7",
        "description": "A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "DOID:0070149",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070149",
            "name": "hereditary sensory and autonomic neuropathy type VII",
            "description": ""
        },
        {
            "id": "DOID:0070149",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070149",
            "name": "HSAN7",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "hereditary sensory and autonomic neuropathy type 7",
            "description": "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'"
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "CIP with hyperhidrosis and gastrointestinal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "HSAN VII",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "HSAN with hyperhidrosis and gastrointestinal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "HSAN7",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "hereditary sensory and autonomic neuropathy type VII",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0014244",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "name": "neuropathy, hereditary sensory and autonomic, type VII",
            "description": ""
        },
        {
            "id": "MIM:615548",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615548",
            "name": "Neuropathy, hereditary sensory and autonomic, 7",
            "description": "Neuropathy, hereditary sensory and autonomic, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070149"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070149",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070149",
            "categories": []
        },
        {
            "id": "MONDO:0014244",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014244",
            "categories": []
        },
        {
            "id": "MIM:615548",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615548",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R053-1",
            "uniprot_ac": "Q9R053",
            "uniprot_id": "SCNBA_MOUSE",
            "refseq_ac": "NP_036017",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 11 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel NAV1.9b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn11a",
                    "type": "recommended"
                },
                {
                    "name": "NSS2",
                    "type": "synonym"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "NaT",
                    "type": "synonym"
                },
                {
                    "name": "NaV1.9",
                    "type": "synonym"
                },
                {
                    "name": "Nan",
                    "type": "synonym"
                },
                {
                    "name": "Nat",
                    "type": "synonym"
                },
                {
                    "name": "SNS2",
                    "type": "synonym"
                },
                {
                    "name": "Scn11a",
                    "type": "synonym"
                },
                {
                    "name": "Sns2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R053-1",
            "evidence": [
                {
                    "id": "0070149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI33-1",
            "uniprot_ac": "Q9UI33",
            "uniprot_id": "SCNBA_HUMAN",
            "refseq_ac": "NP_054858",
            "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 11 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "PN5",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral nerve sodium channel 5",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                },
                {
                    "name": "hNaN",
                    "type": "synonym"
                },
                {
                    "name": "peripheral nerve sodium channel 5",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XII, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN11A",
                    "type": "recommended"
                },
                {
                    "name": "FEPS3",
                    "type": "synonym"
                },
                {
                    "name": "HSAN7",
                    "type": "synonym"
                },
                {
                    "name": "NAV1.9",
                    "type": "synonym"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "PN5",
                    "type": "synonym"
                },
                {
                    "name": "SCN11A",
                    "type": "synonym"
                },
                {
                    "name": "SCN12A",
                    "type": "synonym"
                },
                {
                    "name": "SNS-2",
                    "type": "synonym"
                },
                {
                    "name": "SNS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI33-1",
            "evidence": [
                {
                    "id": "615548",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615548"
                },
                {
                    "id": "0070149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50077-1",
            "uniprot_ac": "P50077",
            "uniprot_id": "CCH1_YEAST",
            "refseq_ac": "NP_011733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-channel protein CCH1",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel protein CCH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCH1",
                    "type": "recommended"
                },
                {
                    "name": "CCH1",
                    "type": "synonym"
                },
                {
                    "name": "G8501",
                    "type": "synonym"
                }
            ],
            "record_id": "P50077-1",
            "evidence": [
                {
                    "id": "0070149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88457-1",
            "uniprot_ac": "O88457",
            "uniprot_id": "SCNBA_RAT",
            "refseq_ac": "NP_062138",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 11 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "Sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                },
                {
                    "name": "sensory neuron sodium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type XI subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type 11, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type XI, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type11, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel NAV1.9b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn11a",
                    "type": "recommended"
                },
                {
                    "name": "NaN",
                    "type": "synonym"
                },
                {
                    "name": "Nan",
                    "type": "synonym"
                },
                {
                    "name": "Scn11a",
                    "type": "synonym"
                },
                {
                    "name": "Sns2",
                    "type": "synonym"
                }
            ],
            "record_id": "O88457-1",
            "evidence": [
                {
                    "id": "0070149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35500-1",
            "uniprot_ac": "P35500",
            "uniprot_id": "SCNA_DROME",
            "refseq_ac": "NP_001036280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "Out cold",
                    "type": "synonym"
                },
                {
                    "name": "Out-cold",
                    "type": "synonym"
                },
                {
                    "name": "Protein paralytic",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "bang senseless",
                    "type": "synonym"
                },
                {
                    "name": "bang sensitive",
                    "type": "synonym"
                },
                {
                    "name": "bang-senseless",
                    "type": "synonym"
                },
                {
                    "name": "bangsenseless",
                    "type": "synonym"
                },
                {
                    "name": "para-PB",
                    "type": "synonym"
                },
                {
                    "name": "paralytic, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "paralytic",
                    "type": "synonym"
                },
                {
                    "name": "paralyzed",
                    "type": "synonym"
                },
                {
                    "name": "shudderer",
                    "type": "synonym"
                },
                {
                    "name": "smell-blind",
                    "type": "synonym"
                },
                {
                    "name": "smellblind",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated sodium ion channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-sensitive sodium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[V]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]1",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "DmNav",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Nav1",
                    "type": "synonym"
                },
                {
                    "name": "Ocd",
                    "type": "synonym"
                },
                {
                    "name": "Para",
                    "type": "synonym"
                },
                {
                    "name": "Scn1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Shudderer",
                    "type": "synonym"
                },
                {
                    "name": "Shu",
                    "type": "synonym"
                },
                {
                    "name": "VSSC",
                    "type": "synonym"
                },
                {
                    "name": "bas",
                    "type": "synonym"
                },
                {
                    "name": "bss",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Da",
                    "type": "synonym"
                },
                {
                    "name": "l(1)ESHS48",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9469",
                    "type": "synonym"
                },
                {
                    "name": "olfD",
                    "type": "synonym"
                },
                {
                    "name": "para13-5",
                    "type": "synonym"
                },
                {
                    "name": "para",
                    "type": "synonym"
                },
                {
                    "name": "par",
                    "type": "synonym"
                },
                {
                    "name": "sbl-1",
                    "type": "synonym"
                },
                {
                    "name": "sbl",
                    "type": "synonym"
                }
            ],
            "record_id": "P35500-1",
            "evidence": [
                {
                    "id": "0070149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070149"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070149"
}