{
  "id": 8719,
  "label": "autosomal dominant chondrodysplasia punctata",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007321",
  "properties": {
    "xrefs": [
      "DOID:0060293",
      "GARD:0001298",
      "MEDGEN:303176",
      "MESH:C563248",
      "OMIM:118650",
      "Orphanet:79344",
      "UMLS:C1442935"
    ],
    "synonyms": [
      "chondrodysplasia punctata Sheffield type",
      "chondrodysplasia punctata, Sheffield type",
      "chondrodysplasia punctata, autosomal dominant",
      "chondrodysplasia punctata due to vitamin K deficiency",
      "chondrodysplasia punctata due to warfarin teratogenicity"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Autosomal dominant form of chondrodysplasia punctata."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16531,
      "label": "non-rhizomelic chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018679",
          "MEDGEN:1842643",
          "Orphanet:176",
          "UMLS:C5681009"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015775"
    }
  ],
  "children": [
    {
      "id": 8720,
      "label": "chondrodysplasia punctata, tibial-metacarpal type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8719
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016715",
          "ICD9:756.59",
          "MEDGEN:98147",
          "MESH:C562961",
          "NANDO:2201359",
          "OMIM:118651",
          "Orphanet:79346",
          "SCTID:254083002",
          "UMLS:C0432224",
          "icd11.foundation:1513713461"
        ],
        "synonyms": [
          "chondrodysplasia punctata, Mt type",
          "chondrodysplasia punctata, tibia-metacarpal type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007322"
    },
    {
      "id": 12358,
      "label": "chondrodysplasia punctata, brachytelephalangic, autosomal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8719
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015347",
          "MEDGEN:337102",
          "OMIM:602497",
          "UMLS:C1844853"
        ],
        "synonyms": [
          "chondrodysplasia punctata, brachytelephalangic, autosomal",
          "brachytelephalangic chondrodysplasia punctata"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011238"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16531,
      "label": "non-rhizomelic chondrodysplasia punctata"
    }
  ]
}