{
    "disease_id": "DOID:0111215",
    "recommended_name": {
        "id": "DOID:0111215",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111215",
        "name": "autosomal dominant distal hereditary motor neuronopathy 8",
        "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111215",
            "name": "congenital benign spinal muscular atrophy with contractures",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111215",
            "name": "DHMN8",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111215",
            "name": "HMN8",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111215",
            "name": "autosomal dominant benign distal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111215",
            "name": "congenital nonprogressive spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111215",
            "name": "distal hereditary motor neuropathy type VIII",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111215",
            "name": "autosomal dominant congenital benign spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "DOID:0111215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111215",
            "name": "distal hereditary motor neuronopathy type 8",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "neuronopathy, distal hereditary motor, autosomal dominant 8",
            "description": "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated."
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "autosomal dominant benign distal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "autosomal dominant congenital benign spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "congenital benign spinal muscular atrophy with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "congenital nonprogressive spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "HMN8",
            "description": ""
        },
        {
            "id": "MONDO:0010839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "name": "neuronopathy, distal hereditary motor, type VIII",
            "description": ""
        },
        {
            "id": "MIM:600175",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600175",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 8",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111215"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111215",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111215",
            "categories": []
        },
        {
            "id": "MONDO:0010839",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010839",
            "categories": []
        },
        {
            "id": "MIM:600175",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600175",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BCH8-1",
            "uniprot_ac": "A0A8M2BCH8",
            "uniprot_id": "A0A8M2BCH8_DANRE",
            "refseq_ac": "XP_005165208",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpv4",
                    "type": "recommended"
                },
                {
                    "name": "trpv4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fp52e02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCH8-1",
            "evidence": [
                {
                    "id": "0111215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPK8-1",
            "uniprot_ac": "Q9EPK8",
            "uniprot_id": "TRPV4_MOUSE",
            "refseq_ac": "NP_071300",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4",
                    "type": "recommended"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "TRP12",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TrpV4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                },
                {
                    "name": "osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "osmosensitive transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "trpv4 channel",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpv4",
                    "type": "recommended"
                },
                {
                    "name": "0610033B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Trp12",
                    "type": "synonym"
                },
                {
                    "name": "Trpv4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "VRL-2",
                    "type": "synonym"
                },
                {
                    "name": "VROAC",
                    "type": "synonym"
                },
                {
                    "name": "Vrl2",
                    "type": "synonym"
                },
                {
                    "name": "Vroac",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPK8-1",
            "evidence": [
                {
                    "id": "0111215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HBA0-1",
            "uniprot_ac": "Q9HBA0",
            "uniprot_id": "TRPV4_HUMAN",
            "refseq_ac": "NP_001170899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4",
                    "type": "recommended"
                },
                {
                    "name": "OSM9-like transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "TRP12",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TrpV4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "VRL-2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                },
                {
                    "name": "osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "osmosensitive transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically activated channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPV4",
                    "type": "recommended"
                },
                {
                    "name": "BCYM3",
                    "type": "synonym"
                },
                {
                    "name": "CMT2C",
                    "type": "synonym"
                },
                {
                    "name": "HMSN2C",
                    "type": "synonym"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "SMAL",
                    "type": "synonym"
                },
                {
                    "name": "SPSMA",
                    "type": "synonym"
                },
                {
                    "name": "SSQTL1",
                    "type": "synonym"
                },
                {
                    "name": "TRP12",
                    "type": "synonym"
                },
                {
                    "name": "TRPV4",
                    "type": "synonym"
                },
                {
                    "name": "VRL2",
                    "type": "synonym"
                },
                {
                    "name": "VROAC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HBA0-1",
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                {
                    "id": "600175",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600175"
                },
                {
                    "id": "0111215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12324-1",
            "uniprot_ac": "Q12324",
            "uniprot_id": "YVC1_YEAST",
            "refseq_ac": "NP_014730",
            "glycoprotein": "no",
            "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 YVC1",
                    "type": "recommended"
                },
                {
                    "name": "TRP homolog",
                    "type": "synonym"
                },
                {
                    "name": "Yeast vacuolar conductance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Yvc1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YVC1",
                    "type": "recommended"
                },
                {
                    "name": "YOR088W",
                    "type": "synonym"
                },
                {
                    "name": "YOR3151W",
                    "type": "synonym"
                },
                {
                    "name": "YVC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12324-1",
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                {
                    "id": "0111215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERZ8-1",
            "uniprot_ac": "Q9ERZ8",
            "uniprot_id": "TRPV4_RAT",
            "refseq_ac": "NP_076460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4",
                    "type": "recommended"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "TrpV4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                },
                {
                    "name": "osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "osmosensitive transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subf V memb 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily 5, member 4",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically activated channel (Vroac)",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpv4",
                    "type": "recommended"
                },
                {
                    "name": "Otrpc4",
                    "type": "synonym"
                },
                {
                    "name": "Trpv4",
                    "type": "synonym"
                },
                {
                    "name": "Vroac",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0111215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3W0-1",
            "uniprot_ac": "Q9W3W0",
            "uniprot_id": "Q9W3W0_DROME",
            "refseq_ac": "NP_572353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4536-PA",
                    "type": "synonym"
                },
                {
                    "name": "Inactive",
                    "type": "synonym"
                },
                {
                    "name": "iav-PA",
                    "type": "synonym"
                },
                {
                    "name": "inactive",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "iav",
                    "type": "recommended"
                },
                {
                    "name": "CG4536",
                    "type": "synonym"
                },
                {
                    "name": "CT14708",
                    "type": "synonym"
                },
                {
                    "name": "DmIav",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4536",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4536",
                    "type": "synonym"
                },
                {
                    "name": "IAV",
                    "type": "synonym"
                },
                {
                    "name": "Iav",
                    "type": "synonym"
                },
                {
                    "name": "TRPV",
                    "type": "synonym"
                },
                {
                    "name": "hypoB",
                    "type": "synonym"
                },
                {
                    "name": "iav",
                    "type": "synonym"
                },
                {
                    "name": "osm-9",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0111215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111215"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI57-1",
            "uniprot_ac": "M9PI57",
            "uniprot_id": "M9PI57_DROME",
            "refseq_ac": "NP_001261833",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5842-PB",
                    "type": "synonym"
                },
                {
                    "name": "NANCHUNG",
                    "type": "synonym"
                },
                {
                    "name": "Nanchung, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "nan-PB",
                    "type": "synonym"
                },
                {
                    "name": "nanchung, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential vanilloid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nan",
                    "type": "recommended"
                },
                {
                    "name": "CG5842",
                    "type": "synonym"
                },
                {
                    "name": "CT18317",
                    "type": "synonym"
                },
                {
                    "name": "DmNan",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5842",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5842",
                    "type": "synonym"
                },
                {
                    "name": "Iav",
                    "type": "synonym"
                },
                {
                    "name": "NAN",
                    "type": "synonym"
                },
                {
                    "name": "Nan",
                    "type": "synonym"
                },
                {
                    "name": "OCR",
                    "type": "synonym"
                },
                {
                    "name": "TRPV",
                    "type": "synonym"
                },
                {
                    "name": "nan",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI57-1",
            "evidence": [
                {
                    "id": "0111215",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111215"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111215"
}