{
  "id": 10886,
  "label": "spinal muscular atrophy, type III",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009672",
  "properties": {
    "xrefs": [
      "DOID:12376",
      "GARD:0000198",
      "ICD9:335.11",
      "MEDGEN:101816",
      "NANDO:1200006",
      "NCIT:C118847",
      "NORD:1342",
      "OMIM:253400",
      "Orphanet:83419",
      "SCTID:54280009",
      "UMLS:C0152109",
      "icd11.foundation:677572815"
    ],
    "synonyms": [
      "childhood spinal muscular atrophy",
      "juvenile spinal muscular atrophy",
      "Kugelberg Welander Syndrome",
      "Kugelberg-Welander disease",
      "SMA type 3",
      "SMA type III",
      "SMA-III",
      "SMA3",
      "spinal muscular atrophy III",
      "spinal muscular atrophy type 3",
      "spinal muscular atrophy, familial",
      "spinal muscular atrophy, type III",
      "spinal muscular atrophy, type III, modifier of",
      "spinal muscular atrophy-3",
      "KWS",
      "Kugelberg-Welander syndrome",
      "SMA 3",
      "Sma 3",
      "muscular atrophy, juvenile",
      "paediatric spinal muscular atrophy",
      "pediatric spinal muscular atrophy",
      "proximal spinal muscular atrophy type 3",
      "spinal muscular atrophy of childhood",
      "spinal muscular atrophy, mild childhood and adolescent form",
      "spinal muscular atrophy, type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild 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"
    }
  ]
}