{
  "id": 9836,
  "label": "thanatophoric dysplasia type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008547",
  "properties": {
    "xrefs": [
      "GARD:0001402",
      "ICD9:742.59",
      "MEDGEN:226975",
      "MESH:C536508",
      "NANDO:1200876",
      "NCIT:C98584",
      "OMIM:187601",
      "Orphanet:93274",
      "SCTID:389158007",
      "UMLS:C1300257"
    ],
    "synonyms": [
      "TD2",
      "cloverleaf skull-micromelic bone dysplasia syndrome",
      "thanatophoric dwarfism type 2",
      "thanatophoric dwarfism-cloverleaf skull syndrome",
      "thanatophoric dysplasia, type 2",
      "type 2 thanatophoric dysplasia",
      "cloverleaf skull with thanatophoric dwarfism",
      "thanatophoric dwarfism - cloverleaf skull",
      "thanatophoric dysplasia type II",
      "thanatophoric dysplasia with Kleeblattschaedel",
      "thanatophoric dysplasia with straight femurs and cloverleaf skull",
      "thanatophoric dysplasia, type II"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 17425,
      "label": "thanatophoric dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19469
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13481",
          "GARD:0000085",
          "ICD9:259.4",
          "MEDGEN:21124",
          "MESH:D013796",
          "MedDRA:10049808",
          "NANDO:1200874",
          "NCIT:C85187",
          "Orphanet:2655",
          "SCTID:29352008",
          "UMLS:C0039743",
          "icd11.foundation:1668919215"
        ],
        "synonyms": [
          "FGFR3-related thanatophoric dysplasia",
          "TD",
          "thanatophoric dwarfism",
          "dwarfism thanatophoric"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A primary bone dysplasia with micromelia characterized by macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017042"
    }
  ],
  "children": [
    {
      "id": 9320,
      "label": "micromelic bone dysplasia with cloverleaf skull",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9836
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001404",
          "MEDGEN:322531",
          "MESH:C536429",
          "OMIM:156830",
          "UMLS:C1834928"
        ],
        "synonyms": [
          "micromelic bone dysplasia with cloverleaf skull"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007994"
    }
  ],
  "roots": [
    {
      "id": 17425,
      "label": "thanatophoric dysplasia"
    }
  ]
}