{
  "id": 16783,
  "label": "neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016197",
  "properties": {
    "xrefs": [
      "GARD:0020436",
      "MEDGEN:1842545",
      "Orphanet:209193",
      "UMLS:C5680834"
    ],
    "synonyms": [
      "qualitative or quantitative defects of selenoprotein N1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020388",
          "MEDGEN:1842598",
          "Orphanet:207049",
          "UMLS:C5680807"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0016139"
    }
  ],
  "children": [
    {
      "id": 18870,
      "label": "multiminicore myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16783,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080991",
          "GARD:0016536",
          "MEDGEN:75731",
          "NANDO:1200480",
          "NANDO:2200871",
          "Orphanet:598",
          "SCTID:55133004",
          "UMLS:C0270962"
        ],
        "synonyms": [
          "MmD",
          "multicore disease",
          "multicore myopathy",
          "multiminicore disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy."
      },
      "child_count": 10,
      "reference_id": "MONDO:0018948"
    },
    {
      "id": 19668,
      "label": "rigid spine syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16774,
        16783,
        19667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004723",
          "MESH:C535683",
          "Orphanet:97244",
          "icd11.foundation:801727141"
        ],
        "synonyms": [
          "rigid spine congenital muscular dystrophy",
          "desmin-related myopathies with Mallory bodies",
          "muscular dystrophy, congenital, merosin positive with early spine rigidity",
          "rigid spine muscular dystrophy-1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019951"
    }
  ],
  "roots": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    }
  ]
}