{
  "id": 16306,
  "label": "craniometaphyseal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015465",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 23099,
      "label": "familial osteosclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4938,
        5714
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary osteosclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 6,
      "reference_id": "MONDO:0042973"
    }
  ],
  "children": [
    {
      "id": 8788,
      "label": "craniometaphyseal dysplasia, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080801",
          "GARD:0001581",
          "MEDGEN:338945",
          "MESH:C565145",
          "OMIM:123000",
          "UMLS:C1852502"
        ],
        "synonyms": [
          "craniometaphyseal dysplasia, autosomal dominant",
          "CMD",
          "CMDD",
          "CMDJ",
          "craniometaphyseal dysplasia Jackson type",
          "craniometaphyseal dysplasia, Jackson type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007397"
    },
    {
      "id": 10282,
      "label": "craniodiaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4308,
        16306,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080032",
          "GARD:0001567",
          "ICD9:756.59",
          "MEDGEN:96080",
          "MESH:C562940",
          "NANDO:2201368",
          "NCIT:C131429",
          "OMIM:218300",
          "Orphanet:1513",
          "SCTID:205506004",
          "UMLS:C0410539",
          "icd11.foundation:505073582"
        ],
        "synonyms": [
          "Lionitis",
          "craniodiaphyseal dysplasia",
          "CDD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009031"
    },
    {
      "id": 10286,
      "label": "craniometaphyseal dysplasia, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16306
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009035"
    },
    {
      "id": 20272,
      "label": "craniodiaphyseal dysplasia, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080807",
          "GARD:0000249",
          "MEDGEN:382678",
          "MESH:C567275",
          "OMIM:122860",
          "UMLS:C2675746"
        ],
        "synonyms": [
          "CDD",
          "craniodiaphyseal dysplasia, autosomal dominant",
          "Schaefer Stein Oshman syndrome",
          "craniodiaphyseal dysplasia, dominant",
          "dominantly inherited craniodiaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0021021"
    }
  ],
  "roots": [
    {
      "id": 23099,
      "label": "familial osteosclerosis"
    }
  ]
}