{
    "disease_id": "DOID:0050690",
    "recommended_name": {
        "id": "DOID:0050690",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050690",
        "name": "brachyolmia",
        "description": "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature."
    },
    "synonyms": [
        {
            "id": "DOID:0050690",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050690",
            "name": "brachyrachia",
            "description": ""
        },
        {
            "id": "MONDO:0007232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007232",
            "name": "autosomal dominant brachyolmia",
            "description": "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood."
        },
        {
            "id": "MONDO:0007232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007232",
            "name": "brachyolmia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007232",
            "name": "brachyolmia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007232",
            "name": "BCYM3",
            "description": ""
        },
        {
            "id": "MONDO:0007232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007232",
            "name": "brachyolmia autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010070",
            "name": "brachyolmia type 1, Hobaek type",
            "description": ""
        },
        {
            "id": "MONDO:0010070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010070",
            "name": "BCYM1A",
            "description": ""
        },
        {
            "id": "MONDO:0010070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010070",
            "name": "brachyolmia type 1, Hobaek type",
            "description": ""
        },
        {
            "id": "MONDO:0010074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010074",
            "name": "brachyolmia type 1, toledo type",
            "description": ""
        },
        {
            "id": "MONDO:0010074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010074",
            "name": "BCYM1B",
            "description": ""
        },
        {
            "id": "MONDO:0010074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010074",
            "name": "PAPS-chondroitin sulphate sulfotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010074",
            "name": "Sed, chondroitin sulphate type",
            "description": ""
        },
        {
            "id": "MONDO:0010074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010074",
            "name": "brachyolmia type 1, Toledo type",
            "description": ""
        },
        {
            "id": "MONDO:0013360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013360",
            "name": "brachyolmia, Maroteaux type",
            "description": "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias."
        },
        {
            "id": "MONDO:0013360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013360",
            "name": "brachyolmia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013360",
            "name": "brachyolmia, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0013360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013360",
            "name": "BCYM2",
            "description": ""
        },
        {
            "id": "MIM:113500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/113500",
            "name": "Brachyolmia 3",
            "description": "Brachyolmia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050690"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050690",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050690",
            "categories": []
        },
        {
            "id": "MONDO:0007232",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007232",
            "categories": []
        },
        {
            "id": "MONDO:0010070",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010070",
            "categories": []
        },
        {
            "id": "MONDO:0010074",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010074",
            "categories": []
        },
        {
            "id": "MONDO:0013360",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013360",
            "categories": []
        },
        {
            "id": "MIM:113500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/113500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "113500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/113500"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050690"
}