{
  "id": 29336,
  "label": "FLNB-associated autosomal dominant filamin related bone disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060173",
  "properties": {
    "xrefs": [
      "GARD:0028175"
    ],
    "synonyms": [
      "FLNB-associated autosomal dominant filamin related bone disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any autosomal dominant filamin related bone disorder in which the cause of the disease is a variation in FLNB gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 19470,
      "label": "filamin-related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019190",
          "MEDGEN:1842239",
          "Orphanet:93425",
          "UMLS:C5680280"
        ],
        "synonyms": [
          "bone filaminopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019690"
    }
  ],
  "children": [
    {
      "id": 8574,
      "label": "atelosteogenesis type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2887,
        29336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009287",
          "MEDGEN:82701",
          "MESH:C535396",
          "OMIM:108720",
          "Orphanet:1190",
          "SCTID:725141006",
          "UMLS:C0265283",
          "icd11.foundation:449799342"
        ],
        "synonyms": [
          "AO1",
          "AOI",
          "atelosteogenesis type 1",
          "giant cell chondrodysplasia",
          "spondylo-humero-femoral dysplasia",
          "atelosteogenesis, type I"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007167"
    },
    {
      "id": 8575,
      "label": "atelosteogenesis type III",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2887,
        29336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010608",
          "MEDGEN:777149",
          "MESH:C579928",
          "OMIM:108721",
          "Orphanet:56305",
          "SCTID:725142004",
          "UMLS:C3668942",
          "icd11.foundation:1997882528"
        ],
        "synonyms": [
          "AO3",
          "AOIII",
          "atelosteogenesis type 3",
          "atelosteogenesis, type III"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007168"
    },
    {
      "id": 8613,
      "label": "Boomerang dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7171,
        29336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050680",
          "GARD:0000933",
          "ICD9:756.9",
          "MEDGEN:96579",
          "MESH:C536573",
          "OMIM:112310",
          "Orphanet:1263",
          "SCTID:254054000",
          "UMLS:C0432201",
          "icd11.foundation:423736259"
        ],
        "synonyms": [
          "Boomerang dysplasia",
          "Boomerang-like skeletal dysplasia",
          "dwarfism with short, bowed, rigid limbs and characteristic facies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007208"
    },
    {
      "id": 9211,
      "label": "Larsen syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19507,
        29336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14764",
          "GARD:0006860",
          "ICD9:759.89",
          "MEDGEN:104500",
          "MESH:C580241",
          "NANDO:2201019",
          "NORD:1349",
          "OMIM:150250",
          "Orphanet:503",
          "SCTID:63387002",
          "UMLS:C0175778",
          "icd11.foundation:607849551"
        ],
        "synonyms": [
          "Larsen syndrome",
          "LRS",
          "autosomal dominant Larsen syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007875"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 19470,
      "label": "filamin-related bone disorder"
    }
  ]
}