{
  "id": 10887,
  "label": "spinal muscular atrophy, type II",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009673",
  "properties": {
    "xrefs": [
      "DOID:0050530",
      "GARD:0004945",
      "ICD9:335.19",
      "MEDGEN:95975",
      "MESH:C536879",
      "NANDO:1200005",
      "OMIM:253550",
      "Orphanet:83418",
      "SCTID:128212001",
      "UMLS:C0393538",
      "icd11.foundation:867148636"
    ],
    "synonyms": [
      "Intermediate spinal muscular atrophy",
      "SMA type 2",
      "SMA type II",
      "SMA-II",
      "SMA2",
      "chronic infantile spinal muscular atrophy",
      "chronic spinal muscular atrophy",
      "muscular atrophy, spinal, infantile chronic form",
      "muscular atrophy, spinal, intermediate type",
      "spinal muscular atrophy, type II",
      "spinal muscular atrophy-2",
      "Dubowitz disease",
      "SMA II",
      "Sma 2",
      "muscular atrophy, spinal, Intermediate type",
      "proximal spinal muscular atrophy type 2",
      "spinal muscular atrophy type 2",
      "spinal muscular atrophy type II",
      "spinal muscular atrophy, type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18971,
      "label": "proximal spinal muscular atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3724,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004531",
          "MEDGEN:870510",
          "NANDO:2100231",
          "NORD:1729",
          "Orphanet:70",
          "UMLS:C4024957"
        ],
        "synonyms": [
          "SMA",
          "Spinal Muscular Atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019079"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18971,
      "label": "proximal spinal muscular atrophy"
    }
  ]
}