{
  "id": 16784,
  "label": "neuromuscular disease caused by qualitative or quantitative defects of plectin",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016198",
  "properties": {
    "xrefs": [
      "GARD:0020437",
      "MEDGEN:1842345",
      "Orphanet:209196",
      "UMLS:C5680835"
    ],
    "synonyms": [
      "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder",
      "qualitative or quantitative defects of plectin"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A neuromuscular disease caused by the qualitative or quantitative defects of plectin. It is characterized by muscular dystrophy."
  },
  "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"
    },
    {
      "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": 10424,
      "label": "epidermolysis bullosa simplex 5B, with muscular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16084,
        16784,
        17887,
        29296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090017",
          "GARD:0002137",
          "MEDGEN:418981",
          "MESH:C535955",
          "NANDO:2201376",
          "OMIM:226670",
          "Orphanet:257",
          "SCTID:723308003",
          "UMLS:C2931072"
        ],
        "synonyms": [
          "EBS-MD",
          "epidermolysis bullosa simplex 5B, with muscular dystrophy",
          "epidermolysis bullosa simplex and limb-girdle muscular dystrophy",
          "epidermolysis bullosa simplex with muscular dystrophy",
          "limb-girdle muscular dystrophy with epidermolysis bullosa simplex",
          "EBSMD",
          "Epidermolysa bullosa simplex and limb girdle muscular dystrophy",
          "Epidermolysa bullosa simplex with muscular dystrophy",
          "MD-EBS",
          "MDEBS",
          "epidermolysis bullosa simplex - limb girdle muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009181"
    },
    {
      "id": 14423,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2Q",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        16784,
        29296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110285",
          "GARD:0012542",
          "MEDGEN:462339",
          "OMIM:613723",
          "Orphanet:254361",
          "UMLS:C3150989"
        ],
        "synonyms": [
          "LGMD2Q",
          "muscular dystrophy, limb-girdle, autosomal recessive 17",
          "muscular dystrophy, limb-girdle, type 2Q",
          "limb-girdle muscular dystrophy type 2Q"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013390"
    }
  ],
  "roots": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}