{
  "id": 25048,
  "label": "FHL1-related myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800462",
  "properties": {
    "xrefs": [
      "GARD:0026563"
    ],
    "synonyms": [
      "FHL1-related myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7023,
      "label": "myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:423",
          "EFO:0004145",
          "ICD9:359.8",
          "ICD9:359.9",
          "ICD9:728.3",
          "MEDGEN:10135",
          "NCIT:C101216",
          "SCTID:129565002",
          "UMLS:C0026848",
          "icd11.foundation:1870184184"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."
      },
      "child_count": 32,
      "reference_id": "MONDO:0005336"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    }
  ],
  "children": [
    {
      "id": 11464,
      "label": "Uruguay Faciocardiomusculoskeletal syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25048
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112148",
          "GARD:0024717",
          "MEDGEN:335320",
          "MESH:C564544",
          "OMIM:300280",
          "UMLS:C1846010"
        ],
        "synonyms": [
          "Uruguay Faciocardiomusculoskeletal syndrome",
          "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive",
          "FCMSU",
          "Fcms",
          "URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome",
          "faciocardiomusculoskeletal syndrome, Uruguay type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010292"
    },
    {
      "id": 11561,
      "label": "X-linked scapuloperoneal muscular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3107,
        25048
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007608",
          "MEDGEN:395530",
          "OMIM:300695",
          "Orphanet:431272",
          "UMLS:C2678061"
        ],
        "synonyms": [
          "X-linked SPMD",
          "X-linked scapuloperoneal syndrome",
          "scapuloperoneal myopathy, X-linked dominant, X-linked dominant",
          "SPM",
          "scapuloperoneal myopathy, FHL1-related",
          "scapuloperoneal myopathy, X-linked dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010400"
    },
    {
      "id": 11562,
      "label": "X-linked myopathy with postural muscle atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11825,
        25048
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070251",
          "GARD:0017081",
          "MEDGEN:395525",
          "OMIM:300696",
          "Orphanet:178461",
          "UMLS:C2678055",
          "icd11.foundation:420677690"
        ],
        "synonyms": [
          "X-linked myopathy with postural muscle atrophy",
          "XMPMA",
          "myopathy, X-linked, with postural muscle atrophy, X-linked recessive",
          "Ehlers-Danlos syndrome, classic-like, 1",
          "Emery-Dreifuss muscular dystrophy 6, X-linked",
          "myopathy, X-linked, with postural muscle atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010401"
    },
    {
      "id": 11575,
      "label": "myopathy, reducing body, X-linked, early-onset, severe",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19665,
        25048
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015261",
          "MEDGEN:906731",
          "MESH:C567469",
          "OMIM:300717",
          "UMLS:C4225423"
        ],
        "synonyms": [
          "myopathy, reducing body, X-linked, early-onset, severe",
          "reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant",
          "RBMX1A",
          "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010414"
    },
    {
      "id": 11576,
      "label": "myopathy, reducing body, X-linked, childhood-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19665,
        25048
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080687",
          "GARD:0015262",
          "MEDGEN:904593",
          "MESH:C567468",
          "OMIM:300718",
          "UMLS:C4225159"
        ],
        "synonyms": [
          "myopathy, reducing body, X-linked, childhood-onset",
          "RBMX1B",
          "reducing body myopathy, X-linked 1B, with late childhood or adult onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010415"
    }
  ],
  "roots": [
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}