{
    "disease_id": "DOID:0111553",
    "recommended_name": {
        "id": "DOID:0111553",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111553",
        "name": "spondyloepiphyseal dysplasia Maroteaux type",
        "description": "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111553",
            "name": "Brachyolmia Type 2",
            "description": ""
        },
        {
            "id": "DOID:0111553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111553",
            "name": "Pseudo-Morquio syndrome type 2",
            "description": ""
        },
        {
            "id": "DOID:0111553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111553",
            "name": "SED, Maroteaux type",
            "description": ""
        },
        {
            "id": "DOID:0111553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111553",
            "name": "spondyloepiphyseal dysplasia of Maroteaux",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "spondyloepimetaphyseal dysplasia, Maroteaux type",
            "description": "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis."
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "SED, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "pseudo-Morquio syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "spondyloepimetaphyseal dysplasia, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "spondyloepiphyseal dysplasia Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "spondyloepiphyseal dysplasia, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0008473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "name": "brachyolmia Maroteaux type",
            "description": ""
        },
        {
            "id": "MIM:184095",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/184095",
            "name": "Spondyloepiphyseal dysplasia, Maroteaux type",
            "description": "Spondyloepiphyseal dysplasia, Maroteaux type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111553"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111553",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111553",
            "categories": []
        },
        {
            "id": "MONDO:0008473",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008473",
            "categories": []
        },
        {
            "id": "MIM:184095",
            "database": "MIM",
            "url": "https://www.omim.org/entry/184095",
            "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": "0111553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111553"
                }
            ]
        },
        {
            "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": "0111553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111553"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "184095",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/184095"
                },
                {
                    "id": "0111553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111553"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "0111553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111553"
                }
            ]
        },
        {
            "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"
                }
            ],
            "record_id": "Q9ERZ8-1",
            "evidence": [
                {
                    "id": "0111553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111553"
                }
            ]
        },
        {
            "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"
                }
            ],
            "gene_names": [
                {
                    "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"
                }
            ],
            "record_id": "Q9W3W0-1",
            "evidence": [
                {
                    "id": "0111553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111553"
                }
            ]
        },
        {
            "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": "0111553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111553"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111553"
}