{
  "id": 18870,
  "label": "multiminicore myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018948",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "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": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 10925,
      "label": "congenital multicore myopathy with external ophthalmoplegia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18870,
        23892
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010316",
          "MEDGEN:340597",
          "NANDO:2200872",
          "NCIT:C150608",
          "OMIM:255320",
          "Orphanet:98905",
          "UMLS:C1850674"
        ],
        "synonyms": [
          "minicore myopathy, antenatal onset, with arthrogryposis",
          "minicore myopathy",
          "minicore myopathy with external ophthalmoplegia",
          "multicore myopathy",
          "multicore myopathy with external ophthalmoplegia",
          "multiminicore disease with external ophthalmoplegia",
          "multiminicore myopathy multicore myopathy with external ophthalmoplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009712"
    },
    {
      "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"
    },
    {
      "id": 16546,
      "label": "moderate multiminicore disease with hand involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18870
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017078",
          "MEDGEN:396213",
          "Orphanet:178145",
          "UMLS:C1861753"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015793"
    },
    {
      "id": 16547,
      "label": "antenatal multiminicore disease with arthrogryposis multiplex congenita",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18870
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020143",
          "MEDGEN:334470",
          "Orphanet:178148",
          "UMLS:C1843691"
        ],
        "synonyms": [
          "multicore myopathy, antenatal onset, with arthrogryposis",
          "multiminicore myopathy, antenatal onset, with arthrogryposis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015794"
    },
    {
      "id": 18138,
      "label": "classic multiminicore myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18870,
        24219
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013661",
          "HP:0003789",
          "MEDGEN:1826166",
          "Orphanet:324604",
          "UMLS:C5679883"
        ],
        "synonyms": [
          "classic MmD",
          "classic multiminicore disease",
          "classic multiminicore myopathy",
          "minicore myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017939"
    }
  ],
  "roots": [
    {
      "id": 16783,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}