{
  "id": 10940,
  "label": "atelosteogenesis type II",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009727",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2777,
      "label": "mineral metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009556",
          "ICD10CM:E83",
          "ICD9:275.8",
          "ICD9:275.9",
          "MEDGEN:509562",
          "SCTID:45744005",
          "UMLS:C0154260"
        ],
        "synonyms": [
          "disease of mineral metabolism",
          "disorder of mineral metabolism"
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0000226"
    },
    {
      "id": 2887,
      "label": "atelosteogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050648",
          "MEDGEN:1806597",
          "OMIMPS:108720",
          "SCTID:43814000",
          "UMLS:C5574658"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000389"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "id": 24315,
      "label": "SLC26A2-related skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100592"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2777,
      "label": "mineral metabolism disease"
    },
    {
      "id": 2887,
      "label": "atelosteogenesis"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 24315,
      "label": "SLC26A2-related skeletal dysplasia"
    }
  ]
}