{
  "id": 15795,
  "label": "spinal muscular atrophy with congenital bone fractures 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014807",
  "properties": {
    "xrefs": [
      "GARD:0018495",
      "MEDGEN:907910",
      "OMIM:616867",
      "UMLS:C4225176"
    ],
    "synonyms": [
      "ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures",
      "SMABF2",
      "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1",
      "spinal muscular atrophy with congenital bone fractures 2",
      "spinal muscular atrophy with congenital bone fractures type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2768,
      "label": "prenatal-onset spinal muscular atrophy with congenital bone fractures",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16094,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017882",
          "MEDGEN:1798941",
          "OMIMPS:616866",
          "Orphanet:486811",
          "UMLS:C5567518"
        ],
        "synonyms": [
          "SMABF",
          "spinal muscular atrophy with congenital bone fractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0000209"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2768,
      "label": "prenatal-onset spinal muscular atrophy with congenital bone fractures"
    }
  ]
}