{
  "id": 17425,
  "label": "thanatophoric dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017042",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    },
    {
      "id": 19469,
      "label": "FGFR3-related chondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019185",
          "MEDGEN:1842866",
          "Orphanet:93420",
          "UMLS:C5681604"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0019685"
    }
  ],
  "children": [
    {
      "id": 9835,
      "label": "thanatophoric dysplasia type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        17425
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008546"
    },
    {
      "id": 9836,
      "label": "thanatophoric dysplasia type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17425
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0008547"
    },
    {
      "id": 11299,
      "label": "thanatophoric dysplasia, Glasgow variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17425
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005165",
          "MEDGEN:376457",
          "MESH:C536506",
          "OMIM:273680",
          "Orphanet:93275",
          "UMLS:C1848865"
        ],
        "synonyms": [
          "thanatophoric dysplasia, Glasgow variant",
          "neonatally lethal short-limb skeletal dysplasia, Glasgow type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010114"
    },
    {
      "id": 21238,
      "label": "Kozlowski Warren Fisher syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        17425
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000353",
          "MEDGEN:419831",
          "MESH:C537614",
          "UMLS:C2931546"
        ],
        "synonyms": [
          "cloverleaf skull generalised bone dysplasia",
          "cloverleaf skull generalized bone dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023573"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    },
    {
      "id": 19469,
      "label": "FGFR3-related chondrodysplasia"
    }
  ]
}