{
  "id": 15129,
  "label": "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014121",
  "properties": {
    "xrefs": [
      "DOID:0070349",
      "GARD:0013222",
      "MEDGEN:1669929",
      "OMIM:615290",
      "Orphanet:363454",
      "UMLS:C4747715"
    ],
    "synonyms": [
      "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures",
      "SMALED2",
      "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant",
      "autosomal dominant spinal muscular atrophy, lower extremity-predominant 2",
      "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant",
      "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18328,
      "label": "autosomal dominant childhood-onset proximal spinal muscular atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070348",
          "GARD:0017559",
          "MEDGEN:322470",
          "OMIMPS:158600",
          "Orphanet:363447",
          "UMLS:C1834690"
        ],
        "synonyms": [
          "SMALED",
          "lower extremity-predominant autosomal dominant proximal spinal muscular atrophy",
          "spinal muscular atrophy, lower extremity-predominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0018190"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18328,
      "label": "autosomal dominant childhood-onset proximal spinal muscular atrophy"
    }
  ]
}