{
  "id": 11247,
  "label": "spinal muscular atrophy, type IV",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010056",
  "properties": {
    "xrefs": [
      "DOID:0050529",
      "GARD:0000564",
      "ICD9:335.19",
      "MEDGEN:325364",
      "MESH:C563948",
      "NANDO:1200007",
      "OMIM:271150",
      "Orphanet:83420",
      "SCTID:85505000",
      "UMLS:C1838230",
      "icd11.foundation:443229384"
    ],
    "synonyms": [
      "SMA type 4",
      "SMA type IV",
      "SMA-IV",
      "SMA4",
      "spinal muscular atrophy of adults",
      "spinal muscular atrophy, adult form",
      "spinal muscular atrophy, type IV",
      "spinal muscular atrophy-4",
      "SMA 4",
      "adult-onset spinal muscular atrophy",
      "proximal spinal muscular atrophy type 4",
      "spinal muscular atrophy 4",
      "spinal muscular atrophy type 4",
      "spinal muscular atrophy, proximal, adult, autosomal recessive",
      "spinal muscular atrophy, type 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset 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"
    }
  ]
}