{
  "id": 10815,
  "label": "cartilage-hair hypoplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009595",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 6893,
      "label": "skeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002461",
          "MEDGEN:538042",
          "SCTID:88230002",
          "UMLS:C0263661"
        ],
        "synonyms": [
          "disease of skeletal system",
          "disease or disorder of skeletal system",
          "disorder of skeletal system",
          "skeletal system disease",
          "skeletal system disease or disorder",
          "disease of bone and/or joint",
          "osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005172"
    },
    {
      "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": 16471,
      "label": "immuno-osseous dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020115",
          "MEDGEN:609410",
          "Orphanet:169349",
          "SCTID:254067002",
          "UMLS:C0432218",
          "icd11.foundation:1948303413"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015708"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    }
  ],
  "children": [
    {
      "id": 10821,
      "label": "metaphyseal dysplasia without hypotrichosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10815
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009601"
    }
  ],
  "roots": [
    {
      "id": 6893,
      "label": "skeletal system disorder"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16471,
      "label": "immuno-osseous dysplasia"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}