{
  "id": 29241,
  "label": "TRIP11-related skeletal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1040009",
  "properties": {
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any skeletal dysplasia in which the cause of the disease is a variation in the TRIP11 gene. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1A, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 9974,
      "label": "achondrogenesis type IA",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19438,
        24805,
        29241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080054",
          "GARD:0000459",
          "ICD9:756.9",
          "MEDGEN:78546",
          "MESH:C536015",
          "OMIM:200600",
          "Orphanet:93299",
          "SCTID:42725006",
          "UMLS:C0265273"
        ],
        "synonyms": [
          "achondrogenesis, Houston-Harris type",
          "ACG1A",
          "Houston-Harris achondrogenesis",
          "achondrogenesis type 1A",
          "achondrogenesis, type 1A",
          "achondrogenesis, type IA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008701"
    },
    {
      "id": 22224,
      "label": "odontochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17208,
        29241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025695",
          "MEDGEN:411198",
          "OMIMPS:184260",
          "UMLS:C2745953"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0031169"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}