{
  "id": 19668,
  "label": "rigid spine syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019951",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16774,
      "label": "qualitative or quantitative defects of desmin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16773,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020426",
          "MEDGEN:1842905",
          "Orphanet:209041",
          "UMLS:C5680839"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0016187"
    },
    {
      "id": 16783,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016197"
    },
    {
      "id": 19667,
      "label": "congenital muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050557",
          "GARD:0009138",
          "ICD9:359.0",
          "MEDGEN:147063",
          "Orphanet:97242",
          "SCTID:240059009",
          "UMLS:C0699743",
          "icd11.foundation:396687076"
        ],
        "synonyms": [
          "CMD",
          "MDC",
          "congenital MD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."
      },
      "child_count": 46,
      "reference_id": "MONDO:0019950"
    }
  ],
  "children": [
    {
      "id": 12391,
      "label": "rigid spine muscular dystrophy 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18870,
        19668,
        23851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110633",
          "GARD:0024786",
          "MEDGEN:98047",
          "NCIT:C126691",
          "OMIM:602771",
          "SCTID:240063002",
          "UMLS:C0410180"
        ],
        "synonyms": [
          "classic MmD",
          "classic multiminicore disease",
          "classic multiminicore myopathy",
          "rigid spine syndrome",
          "MDRS1",
          "RSMD1",
          "RSS",
          "SELENON rigid spine syndrome",
          "minicore myopathy, severe classic form",
          "multicore myopathy, severe classic form",
          "multiminicore disease, severe classic form",
          "muscular dystrophy, congenital, Eichsfeld type",
          "muscular dystrophy, congenital, merosin-positive, with early spine rigidity",
          "muscular dystrophy, rigid spine, 1",
          "myopathy, SEPN1-related",
          "rigid spine muscular dystrophy 1",
          "rigid spine muscular dystrophy type 1",
          "rigid spine syndrome caused by mutation in SELENON",
          "SEPN1-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011271"
    }
  ],
  "roots": [
    {
      "id": 16774,
      "label": "qualitative or quantitative defects of desmin"
    },
    {
      "id": 16783,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1"
    },
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    }
  ]
}