{
    "disease_id": "DOID:0050690",
    "recommended_name": {
        "id": "DOID:0050690",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0050690",
            "name": "brachyrachia",
            "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": "spondylodysplasia with Pure brachyolmia",
            "description": ""
        },
        {
            "id": "MONDO:0010070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010070",
            "name": "brachyolmia, recessive type of Hobaek",
            "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; BCYM1A",
            "description": ""
        },
        {
            "id": "MONDO:0010070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010070",
            "name": "brachyolmia type 1, Hobaek type",
            "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 (see this term), 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; BCYM3",
            "description": ""
        },
        {
            "id": "MONDO:0007232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007232",
            "name": "brachyrachia",
            "description": ""
        },
        {
            "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: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": "spondyloepiphyseal dysplasia tarda, Toledo type",
            "description": ""
        },
        {
            "id": "MONDO:0010074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010074",
            "name": "Sed, chondroitin sulfate type",
            "description": ""
        },
        {
            "id": "MONDO:0010074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010074",
            "name": "brachyolmia type 1, Toledo type; BCYM1B",
            "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 sulfate sulfotransferase deficiency",
            "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 (see this term), 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, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0013360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013360",
            "name": "brachyolmia type 2; BCYM2",
            "description": ""
        },
        {
            "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": "BCYM2",
            "description": ""
        },
        {
            "id": "MIM:113500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/113500",
            "name": "Brachyolmia 3",
            "description": "Brachyolmia 3"
        }
    ]
}