{
  "id": 14813,
  "label": "fibrochondrogenesis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013795",
  "properties": {
    "xrefs": [
      "DOID:0080673",
      "GARD:0015815",
      "MEDGEN:482758",
      "OMIM:614524",
      "UMLS:C3281128"
    ],
    "synonyms": [
      "COL11A2 fibrochondrogenesis",
      "fibrochondrogenesis 2",
      "fibrochondrogenesis caused by mutation in COL11A2",
      "fibrochondrogenesis type 2",
      "FBCG2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16701,
      "label": "fibrochondrogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060465",
          "GARD:0002321",
          "MEDGEN:82700",
          "MESH:C562524",
          "NANDO:2201016",
          "OMIMPS:228520",
          "Orphanet:2021",
          "SCTID:17144009",
          "UMLS:C0265282",
          "icd11.foundation:1412541453"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016068"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16701,
      "label": "fibrochondrogenesis"
    }
  ]
}