{
  "id": 12391,
  "label": "rigid spine muscular dystrophy 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011271",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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"
    },
    {
      "id": 23851,
      "label": "SELENON-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026047"
        ],
        "synonyms": [
          "SELENON-related myopathy",
          "SEPN1-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100100"
    }
  ],
  "children": [
    {
      "id": 19228,
      "label": "desmin-related myopathy with Mallory body-like inclusions",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12391,
        16735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016732",
          "MEDGEN:898925",
          "Orphanet:84132",
          "UMLS:C4275073",
          "icd11.foundation:998522839"
        ],
        "synonyms": [
          "early-onset desmin-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019398"
    }
  ],
  "roots": [
    {
      "id": 18870,
      "label": "multiminicore myopathy"
    },
    {
      "id": 19668,
      "label": "rigid spine syndrome"
    },
    {
      "id": 23851,
      "label": "SELENON-related myopathy"
    }
  ]
}