{
  "id": 10286,
  "label": "craniometaphyseal dysplasia, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009035",
  "properties": {
    "xrefs": [
      "DOID:0080802",
      "GARD:0001582",
      "MEDGEN:419753",
      "MESH:C536570",
      "OMIM:218400",
      "UMLS:C2931244"
    ],
    "synonyms": [
      "autosomal recessive craniometaphyseal dysplasia",
      "craniometaphyseal dysplasia, autosomal recessive",
      "CMDR",
      "craniometaphyseal dysplasia, autosomal recessive type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Autosomal recessive form of craniometaphyseal dysplasia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16306,
      "label": "craniometaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23099
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080033",
          "GARD:0015013",
          "ICD9:756.89",
          "MEDGEN:82702",
          "NANDO:2201366",
          "NORD:1013",
          "OMIMPS:123000",
          "Orphanet:1522",
          "SCTID:36601008",
          "UMLS:C0265292",
          "icd11.foundation:305860050"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015465"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16306,
      "label": "craniometaphyseal dysplasia"
    }
  ]
}