{
  "id": 9835,
  "label": "thanatophoric dysplasia type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008546",
  "properties": {
    "xrefs": [
      "GARD:0009295",
      "MEDGEN:358383",
      "NANDO:1200875",
      "NCIT:C98583",
      "OMIM:187600",
      "OMIM:270230",
      "Orphanet:1860",
      "UMLS:C1868678"
    ],
    "synonyms": [
      "TD1",
      "thanatophoric dwarfism type 1",
      "thanatophoric dysplasia, type 1",
      "type 1 thanatophoric dysplasia",
      "PLSD San Diego type",
      "Platyspondylic lethal skeletal dysplasia, San Diego type",
      "lethal short-limbed Platyspondylic dwarfism, San Diego type",
      "thanatophoric dwarfism",
      "thanatophoric dwarfism 1",
      "thanatophoric dysplasia",
      "thanatophoric dysplasia type I",
      "thanatophoric dysplasia, type I"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17425,
      "label": "thanatophoric dysplasia"
    }
  ]
}