{
  "id": 10424,
  "label": "epidermolysis bullosa simplex 5B, with muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009181",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110274",
          "GARD:0019825",
          "MEDGEN:419194",
          "MESH:C538640",
          "OMIMPS:253600",
          "Orphanet:102015",
          "UMLS:C2931907",
          "icd11.foundation:319162980"
        ],
        "synonyms": [
          "autosomal recessive limb-girdle muscular dystrophy",
          "limb-girdle muscular dystrophy, autosomal recessive",
          "muscular dystrophy, limb-girdle, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of limb-girdle muscular dystrophy."
      },
      "child_count": 64,
      "reference_id": "MONDO:0015152"
    },
    {
      "id": 16784,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of plectin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016198"
    },
    {
      "id": 17887,
      "label": "epidermolysis bullosa simplex",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4644",
          "GARD:0010752",
          "ICD10CM:Q81.0",
          "ICD9:757.39",
          "MEDGEN:86896",
          "MESH:D016110",
          "NANDO:1200235",
          "NANDO:2201341",
          "NANDO:2201375",
          "NCIT:C84692",
          "OMIMPS:131760",
          "Orphanet:304",
          "SCTID:67144006",
          "UMLS:C0079298",
          "icd11.foundation:1860717527"
        ],
        "synonyms": [
          "EBS",
          "EEB",
          "epidermolysis bullosa simplex",
          "epidermolysis bullosa intraepidermic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma."
      },
      "child_count": 20,
      "reference_id": "MONDO:0017610"
    },
    {
      "id": 29296,
      "label": "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder",
          "qualitative or quantitative defects of plectin"
        ],
        "definition": "A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications."
      },
      "child_count": 4,
      "reference_id": "MONDO:1060109"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16784,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of plectin"
    },
    {
      "id": 17887,
      "label": "epidermolysis bullosa simplex"
    },
    {
      "id": 29296,
      "label": "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder"
    }
  ]
}