{
  "id": 19462,
  "label": "brachydactyly type B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019676",
  "properties": {
    "xrefs": [
      "GARD:0000985",
      "MEDGEN:722046",
      "Orphanet:93383",
      "SCTID:389168002",
      "UMLS:C1300267",
      "icd11.foundation:1534264812"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 20260,
      "label": "brachydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6893,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050581",
          "HP:0001156",
          "MEDGEN:67454",
          "MESH:D059327",
          "SCTID:43476002",
          "UMLS:C0221357",
          "icd11.foundation:598200019"
        ],
        "synonyms": [
          "brachydactyly",
          "brachydactyly (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms."
      },
      "child_count": 66,
      "reference_id": "MONDO:0021004"
    }
  ],
  "children": [
    {
      "id": 8625,
      "label": "brachydactyly type B1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110969",
          "GARD:0018009",
          "MEDGEN:349432",
          "MESH:C566196",
          "OMIM:113000",
          "Orphanet:572385",
          "UMLS:C1862112"
        ],
        "synonyms": [
          "BDB1",
          "ROR2 brachydactyly type B",
          "brachydactyly type B caused by mutation in ROR2",
          "brachydactyly, type B",
          "brachydactyly, type B1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007220"
    },
    {
      "id": 13699,
      "label": "brachydactyly type B2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19462,
        24246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110975",
          "GARD:0016963",
          "MEDGEN:409880",
          "OMIM:611377",
          "Orphanet:140908",
          "SCTID:770406002",
          "UMLS:C1969652",
          "icd11.foundation:891810441"
        ],
        "synonyms": [
          "BDB2",
          "brachydactyly, type B2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012658"
    }
  ],
  "roots": [
    {
      "id": 20260,
      "label": "brachydactyly"
    }
  ]
}