{
    "disease_id": "DOID:0070145",
    "recommended_name": {
        "id": "DOID:0070145",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070145",
        "name": "hereditary sensory and autonomic neuropathy type 5",
        "description": "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070145",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070145",
            "name": "HSAN5",
            "description": ""
        },
        {
            "id": "DOID:0070145",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070145",
            "name": "hereditary sensory and autonomic neuropathy type V",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "hereditary sensory and autonomic neuropathy type 5",
            "description": "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies."
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "HSAN5",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "NGF autosomal recessive hereditary sensory and autonomic neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "congenital insensitivity to pain and thermal analgesia",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "hereditary sensory and autonomic neuropathy type V",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "HSAN 5",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "HSAN V",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "insensitivity to pain, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "neuropathy, hereditary sensory and autonomic, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012092",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "name": "neuropathy, hereditary sensory and autonomic, type V",
            "description": ""
        },
        {
            "id": "MIM:608654",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608654",
            "name": "Neuropathy, hereditary sensory and autonomic, 5",
            "description": "Neuropathy, hereditary sensory and autonomic, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070145"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070145",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070145",
            "categories": []
        },
        {
            "id": "MONDO:0012092",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012092",
            "categories": []
        },
        {
            "id": "MIM:608654",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608654",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P01139-1",
            "uniprot_ac": "P01139",
            "uniprot_id": "NGF_MOUSE",
            "refseq_ac": "NP_001106168",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-nerve growth factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Beta-NGF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta-nerve growth factor isoform B precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "beta-nerve growth factor; nerve growth factor, beta",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ngf",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "NGF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ngfb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ngf",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "beta-NGF; Ngfb",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070145",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01138-1",
            "uniprot_ac": "P01138",
            "uniprot_id": "NGF_HUMAN",
            "refseq_ac": "NP_002497",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-nerve growth factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Beta-NGF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta-nerve growth factor precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "nerve growth factor, beta subunit; beta-nerve growth factor; nerve growth factor (beta polypeptide); pro-nerve growth factor long",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NGF",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Beta-NGF; HSAN5; NGFB",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "NGFB",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NGF",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070145",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070145"
                },
                {
                    "id": "608654",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6YBR5-1",
            "uniprot_ac": "Q6YBR5",
            "uniprot_id": "NGF_DANRE",
            "refseq_ac": "NP_954680",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nerve growth factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "NGF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "nerve growth factor isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zNGF; nerve growth factor (beta polypeptide)",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zNGF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ngfb",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ngf",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ngf; ns:zft386; xx:zft386; zgc:109730",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ngfb",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ngfb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ngf",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ns:zft386",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "xx:zft386",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109730",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070145",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O73797-1",
            "uniprot_ac": "O73797",
            "uniprot_id": "NTF7_DANRE",
            "refseq_ac": "NP_571139",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurotrophin-7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "NT-7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "etID309941.23; neurotrophin-7",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophin-7 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zNT-7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ngfa",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ntf7",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NT-7; nt7; ntf6/7; ntf7; zNT-7; znt7",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "NT-7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ngfa",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "nt7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ntf7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zNT-7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "znt7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070145",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25427-1",
            "uniprot_ac": "P25427",
            "uniprot_id": "NGF_RAT",
            "refseq_ac": "NP_001263984",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-nerve growth factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Beta-NGF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "beta-nerve growth factor precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "beta-nerve growth factor; nerve growth factor (beta polypeptide); pro-nerve growth factor long",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ngf",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ngfb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ngf",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "beta-NGF; Ngfb",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070145",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070145"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070145"
}