{
  "id": 16750,
  "label": "neuromuscular disease caused by qualitative or quantitative defects of dysferlin",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016145",
  "properties": {
    "xrefs": [
      "GARD:0002003",
      "MEDGEN:419874",
      "MESH:C537995",
      "Orphanet:207073",
      "UMLS:C2931687"
    ],
    "synonyms": [
      "dysferlinopathy",
      "qualitative or quantitative defects of dysferlin"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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"
    },
    {
      "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": 10890,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        16750
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110276",
          "GARD:0008574",
          "MEDGEN:338149",
          "MESH:C535899",
          "NCIT:C142080",
          "OMIM:253601",
          "Orphanet:268",
          "SCTID:718179003",
          "UMLS:C1850889"
        ],
        "synonyms": [
          "DYSF autosomal recessive limb-girdle muscular dystrophy",
          "LGMD2B",
          "LGMD3",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF",
          "limb-girdle muscular dystrophy due to dysferlin deficiency",
          "limb-girdle muscular dystrophy type 2B",
          "muscular dystrophy, limb-girdle, autosomal recessive 2",
          "limb-girdle muscular dystrophy, type 2B",
          "muscular dystrophy, limb-girdle, type 2B",
          "muscular dystrophy, limb-girdle, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009676"
    },
    {
      "id": 12808,
      "label": "distal myopathy with anterior tibial onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16750,
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111187",
          "GARD:0017080",
          "MEDGEN:335706",
          "MESH:C564664",
          "OMIM:606768",
          "Orphanet:178400",
          "UMLS:C1847532",
          "icd11.foundation:651559966"
        ],
        "synonyms": [
          "distal anterior compartment myopathy",
          "DMAT",
          "myopathy, distal, with anterior tibial onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011721"
    },
    {
      "id": 16685,
      "label": "congenital myopathy, Paradas type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16750,
        19667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020335",
          "MEDGEN:1388555",
          "Orphanet:199329",
          "UMLS:C4511057"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016049"
    },
    {
      "id": 21490,
      "label": "Miyoshi muscular dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10899,
        16750
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070199",
          "GARD:0025425",
          "MEDGEN:1640757",
          "OMIM:254130",
          "UMLS:C4551973"
        ],
        "synonyms": [
          "DYSF Miyoshi myopathy",
          "Miyoshi myopathy caused by mutation in DYSF",
          "MIYOSHI muscular dystrophy 1",
          "MMD1",
          "Miyoshi myopathy",
          "muscular dystrophy, distal, late-onset, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024545"
    }
  ],
  "roots": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}