{
  "id": 10342,
  "label": "dermochondrocorneal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009094",
  "properties": {
    "xrefs": [
      "GARD:0001815",
      "ICD9:379.99",
      "MEDGEN:98151",
      "MESH:C535375",
      "OMIM:221800",
      "Orphanet:79149",
      "SCTID:254150007",
      "UMLS:C0432288",
      "icd11.foundation:1305138145"
    ],
    "synonyms": [
      "FranC'ois syndrome",
      "François syndrome",
      "dermochondrocorneal dystrophy",
      "DCCD",
      "Dermochondrocorneal dystrophy of François",
      "Francois syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 20387,
      "label": "dermis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1843083",
          "Orphanet:79381",
          "UMLS:C5681483"
        ],
        "synonyms": [
          "dermis disease",
          "dermis disease or disorder",
          "disease of dermis",
          "disease or disorder of dermis",
          "disorder of dermis",
          "other dermis disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease that involves the dermis."
      },
      "child_count": 28,
      "reference_id": "MONDO:0021154"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 20387,
      "label": "dermis disorder"
    }
  ]
}