{
    "disease_id": "DOID:0070146",
    "recommended_name": {
        "id": "DOID:0070146",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070146",
        "name": "hereditary sensory neuropathy type 4",
        "description": "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070146",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070146",
            "name": "hereditary sensory neuropathy type IV",
            "description": ""
        },
        {
            "id": "DOID:0070146",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070146",
            "name": "insensitivity to pain, congenital, with anhidrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "hereditary sensory and autonomic neuropathy type 4",
            "description": "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever."
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "CIP-anhidrosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "HSAN4",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "Hereditary Sensory and Autonomic Neuropathy Type IV",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "NTRK1 hereditary sensory and autonomic neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "congenital insensitivity to pain with anhidrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "congenital insensitivity to pain-anhidrosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "hereditary sensory and autonomic neuropathy type IV",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "hereditary sensory neuropathy type IV",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "insensitivity to pain, congenital, with anhidrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "CIPA",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "HSAN 4",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "HSAN IV",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "HSNAN4",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "familial dysautonomia, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "hereditary sensory and autonomic neuropathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "hereditary sensory neuropathy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "name": "neuropathy, congenital sensory, with anhidrosis",
            "description": ""
        },
        {
            "id": "MIM:256800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256800",
            "name": "Congenital insensitivity to pain with anhidrosis",
            "description": "Congenital insensitivity to pain with anhidrosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070146"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070146",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070146",
            "categories": []
        },
        {
            "id": "MONDO:0009746",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009746",
            "categories": []
        },
        {
            "id": "MIM:256800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UFB7-1",
            "uniprot_ac": "Q3UFB7",
            "uniprot_id": "NTRK1_MOUSE",
            "refseq_ac": "NP_001028296",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity nerve growth factor receptor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase receptor type 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "high affinity nerve growth factor receptor precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "high affinity nerve growth factor receptor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ntrk1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ntrk1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Tkr; trk; TrkA",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070146",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04629-1",
            "uniprot_ac": "P04629",
            "uniprot_id": "NTRK1_HUMAN",
            "refseq_ac": "NP_001007793",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity nerve growth factor receptor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase receptor type 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene TRK; tyrosine kinase receptor A; high affinity nerve growth factor receptor; TRK1-transforming tyrosine kinase protein; gp140trk; tropomyosin-related kinase A; neurotrophic tyrosine kinase, receptor, type 1; tropomyosin receptor kinase A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TRK1-transforming tyrosine kinase protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Trk-A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-related kinase A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase receptor A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "gp140trk",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "high affinity nerve growth factor receptor isoform 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "p140-TrkA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NTRK1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "MTC; p140-TrkA; TRK; Trk-A; TRK1; TRKA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MTC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NTRK1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TRKA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TRK",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070146",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070146"
                },
                {
                    "id": "256800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F6P1M3-1",
            "uniprot_ac": "F6P1M3",
            "uniprot_id": "F6P1M3_DANRE",
            "refseq_ac": "NP_001288285",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase receptor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "high affinity nerve growth factor receptor precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase receptor A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ntrk1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ntrk1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "trk; trka",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "trka",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "trk",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070146",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35739-1",
            "uniprot_ac": "P35739",
            "uniprot_id": "NTRK1_RAT",
            "refseq_ac": "NP_067600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity nerve growth factor receptor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase receptor type 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Slow nerve growth factor receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Trk-A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "high affinity nerve growth factor receptor precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "high affinity nerve growth factor receptor; TrkA neurotrophin receptor; trk-A; p140-TrkA; slow nerve growth factor receptor; neurotrophic tyrosine kinase, receptor, type 1; trkA proto-oncogene receptor; tropomyosin-related kinase A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "p140-TrkA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ntrk1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ntrk1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Trka",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Trk",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Trk",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070146",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070146"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070146"
}