{
  "id": 10883,
  "label": "spinal muscular atrophy, type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009669",
  "properties": {
    "xrefs": [
      "DOID:13137",
      "GARD:0007883",
      "ICD9:335.0",
      "MEDGEN:1845578",
      "NANDO:1200004",
      "NCIT:C98670",
      "NORD:1844",
      "OMIM:253300",
      "Orphanet:83330",
      "SCTID:64383006",
      "UMLS:C5848259",
      "icd11.foundation:915903258"
    ],
    "synonyms": [
      "infantile muscular atrophy",
      "infantile spinal muscular atrophy",
      "spinal muscular atrophies of childhood",
      "SMA type 1",
      "SMA type I",
      "SMA-I",
      "SMA1",
      "SMNI",
      "Werdnig Hoffmann disease",
      "Werdnig-Hoffman disease",
      "Werdnig-Hoffmann Disease",
      "Werdnig-Hoffmann disease",
      "severe infantile spinal muscular atrophy",
      "spinal muscular atrophy-1",
      "survival motor neuron spinal muscular atrophy",
      "SMA, infantile acute form",
      "muscular atrophy, infantile",
      "proximal spinal muscular atrophy type 1",
      "proximal spinal muscular atrophy, type 1",
      "spinal muscular atrophy 1",
      "spinal muscular atrophy, type I"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive 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"
    }
  ]
}