{
  "id": 2887,
  "label": "atelosteogenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000389",
  "properties": {
    "xrefs": [
      "DOID:0050648",
      "MEDGEN:1806597",
      "OMIMPS:108720",
      "SCTID:43814000",
      "UMLS:C5574658"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    }
  ],
  "children": [
    {
      "id": 8574,
      "label": "atelosteogenesis type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2887,
        29336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009287",
          "MEDGEN:82701",
          "MESH:C535396",
          "OMIM:108720",
          "Orphanet:1190",
          "SCTID:725141006",
          "UMLS:C0265283",
          "icd11.foundation:449799342"
        ],
        "synonyms": [
          "AO1",
          "AOI",
          "atelosteogenesis type 1",
          "giant cell chondrodysplasia",
          "spondylo-humero-femoral dysplasia",
          "atelosteogenesis, type I"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007167"
    },
    {
      "id": 8575,
      "label": "atelosteogenesis type III",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2887,
        29336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010608",
          "MEDGEN:777149",
          "MESH:C579928",
          "OMIM:108721",
          "Orphanet:56305",
          "SCTID:725142004",
          "UMLS:C3668942",
          "icd11.foundation:1997882528"
        ],
        "synonyms": [
          "AO3",
          "AOIII",
          "atelosteogenesis type 3",
          "atelosteogenesis, type III"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007168"
    },
    {
      "id": 10940,
      "label": "atelosteogenesis type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        2887,
        18954,
        24315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008329",
          "ICD9:756.9",
          "MEDGEN:338072",
          "MESH:C535395",
          "OMIM:256050",
          "Orphanet:56304",
          "SCTID:254055004",
          "UMLS:C1850554"
        ],
        "synonyms": [
          "AO2",
          "AOII",
          "atelosteogenesis type 2",
          "atelosteogenesis type II",
          "neonatal osseous dysplasia type 1",
          "De 50A Chapelle dysplasia",
          "De la Chapelle dysplasia",
          "atelosteogenesis II",
          "atelosteogenesis, type 2",
          "atelosteogenesis, type II",
          "neonatal osseous dysplasia 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009727"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    }
  ]
}