{
  "id": 10821,
  "label": "metaphyseal dysplasia without hypotrichosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009601",
  "properties": {
    "xrefs": [
      "GARD:0010622",
      "MEDGEN:320444",
      "MESH:C563574",
      "OMIM:250460",
      "Orphanet:1838",
      "UMLS:C1834821"
    ],
    "synonyms": [
      "metaphyseal dysplasia without hypotrichosis",
      "CHHV",
      "MDWH",
      "cartilage-hair hypoplasia variant, skeletal manifestations only",
      "cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10815,
      "label": "cartilage-hair hypoplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893,
        7611,
        16471,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14773",
          "GARD:0006996",
          "MEDGEN:67398",
          "MESH:C535916",
          "MedDRA:10069596",
          "NCIT:C61245",
          "NORD:1414",
          "OMIM:250250",
          "Orphanet:175",
          "SCTID:7720002",
          "UMLS:C0220748",
          "icd11.foundation:469051294"
        ],
        "synonyms": [
          "McKusick Type Metaphyseal Chondrodysplasia",
          "autosomal recessive metaphyseal chondrodysplasia",
          "cartilage hair hypoplasia",
          "cartilage-hair hypoplasia",
          "metaphyseal chondrodysplasia, McKusick type",
          "CHH",
          "cartilage hair hypoplasia like syndrome",
          "metaphyseal chondrodysplasia McKusick type",
          "metaphyseal chondrodysplasia, Mckusick type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009595"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10815,
      "label": "cartilage-hair hypoplasia"
    }
  ]
}