{
  "id": 16137,
  "label": "spinal atrophy-ophthalmoplegia-pyramidal syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015250",
  "properties": {
    "xrefs": [
      "GARD:0004942",
      "MEDGEN:419294",
      "MESH:C535625",
      "Orphanet:1217",
      "UMLS:C2930956"
    ],
    "synonyms": [
      "Hamano-Tsukamoto syndrome",
      "Hamano Tsukamoto syndrome",
      "infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms",
      "spinal atrophy ophthalmoplegia pyramidal syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16736,
      "label": "bulbospinal muscular atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020365",
          "MEDGEN:95977",
          "NANDO:1200001",
          "Orphanet:206701",
          "SCTID:230253001",
          "UMLS:C0393547",
          "icd11.foundation:1604214898"
        ],
        "synonyms": [
          "SBMA",
          "bulbospinal muscular atrophy",
          "spinal and bulbal muscular atrophy",
          "spinal-bulbar muscular atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016113"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16736,
      "label": "bulbospinal muscular atrophy"
    }
  ]
}