{
  "id": 18364,
  "label": "TRPV4-related bone disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018240",
  "properties": {
    "xrefs": [
      "GARD:0021577",
      "MEDGEN:1842686",
      "NANDO:2201021",
      "Orphanet:364820",
      "UMLS:C5680977"
    ],
    "synonyms": [
      "TRPV4-related skeletal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 8637,
      "label": "autosomal dominant brachyolmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16146,
        18364
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010429",
          "MEDGEN:96583",
          "OMIM:113500",
          "Orphanet:93304",
          "SCTID:717264003",
          "UMLS:C0432227"
        ],
        "synonyms": [
          "brachyolmia type 3",
          "brachyolmia, autosomal dominant",
          "BCYM3",
          "brachyolmia autosomal dominant",
          "brachyrachia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007232"
    },
    {
      "id": 9312,
      "label": "metatropic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206,
        18364
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111514",
          "GARD:0003571",
          "MEDGEN:82699",
          "MESH:C537356",
          "NCIT:C175209",
          "NORD:1445",
          "OMIM:156530",
          "Orphanet:2635",
          "SCTID:22764001",
          "UMLS:C0265281"
        ],
        "synonyms": [
          "Metatropic Dysplasia I",
          "Metatropic dwarfism",
          "metatropic dysplasia",
          "Metatropic dysplasia, nonlethal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007986"
    },
    {
      "id": 9505,
      "label": "parastremmatic dwarfism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18364,
        19475
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111539",
          "GARD:0004222",
          "MEDGEN:358366",
          "MESH:C537172",
          "OMIM:168400",
          "Orphanet:2646",
          "SCTID:722210007",
          "UMLS:C1868616",
          "icd11.foundation:431936114"
        ],
        "synonyms": [
          "parastremmatic dwarfism",
          "Parastremmatic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008196"
    },
    {
      "id": 9765,
      "label": "spondyloepimetaphyseal dysplasia, Maroteaux type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18364,
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111553",
          "GARD:0000994",
          "MEDGEN:463613",
          "OMIM:184095",
          "Orphanet:263482",
          "SCTID:719204007",
          "UMLS:C3159322"
        ],
        "synonyms": [
          "SED, Maroteaux type",
          "pseudo-Morquio syndrome type 2",
          "spondyloepimetaphyseal dysplasia, Maroteaux type",
          "spondyloepiphyseal dysplasia Maroteaux type",
          "spondyloepiphyseal dysplasia, Maroteaux type",
          "brachyolmia Maroteaux type",
          "pseudo-Morquio syndrome, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008473"
    },
    {
      "id": 9769,
      "label": "spondylometaphyseal dysplasia, Kozlowski type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        18364
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111554",
          "GARD:0003047",
          "MEDGEN:82698",
          "MESH:C535797",
          "OMIM:184252",
          "Orphanet:93314",
          "UMLS:C0265280",
          "icd11.foundation:360868302"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia, Kozlowski type",
          "Dysmorphism arthrogryposis skeletal maturation advanced",
          "Jequier Kozlowski skeletal dysplasia",
          "Jequier-Kozlowski syndrome",
          "SMDK",
          "SmD Kozlowski type",
          "SmD, Kozlowski type",
          "skeletal dysplasia Jequier-Kozlowski type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008477"
    },
    {
      "id": 12819,
      "label": "familial digital arthropathy-brachydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18364,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016735",
          "MEDGEN:335678",
          "MESH:C564656",
          "NCIT:C175208",
          "OMIM:606835",
          "Orphanet:85169",
          "UMLS:C1847406"
        ],
        "synonyms": [
          "FDAB",
          "digital arthropathy-brachydactyly, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011732"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}