{
  "id": 18328,
  "label": "autosomal dominant childhood-onset proximal spinal muscular atrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018190",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": [
    {
      "id": 9352,
      "label": "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18328
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070351",
          "GARD:0013519",
          "MEDGEN:1830501",
          "MESH:C563560",
          "OMIM:158600",
          "Orphanet:209341",
          "UMLS:C5780022"
        ],
        "synonyms": [
          "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures",
          "SMALED1",
          "spinal muscular atrophy, lower extremity-predominant 1, AD",
          "Kugelberg-Welander syndrome, autosomal dominant",
          "Sma-led",
          "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant",
          "spinal muscular atrophy, childhood, proximal, autosomal dominant",
          "spinal muscular atrophy, juvenile, proximal, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008026"
    },
    {
      "id": 15129,
      "label": "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18328
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014121"
    },
    {
      "id": 22340,
      "label": "spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18328
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070350",
          "GARD:0025715",
          "MEDGEN:1648362",
          "OMIM:618291",
          "UMLS:C4749003"
        ],
        "synonyms": [
          "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant",
          "SMALED2B",
          "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032660"
    }
  ],
  "roots": [
    {
      "id": 18971,
      "label": "proximal spinal muscular atrophy"
    }
  ]
}