{
  "id": 3573,
  "label": "facioscapulohumeral muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001347",
  "properties": {
    "xrefs": [
      "DOID:11727",
      "GARD:0009941",
      "ICD10CM:G71.02",
      "MEDGEN:65956",
      "MESH:D020391",
      "MedDRA:10064087",
      "NANDO:1200491",
      "NANDO:2200859",
      "NCIT:C84704",
      "NORD:1116",
      "OMIMPS:158900",
      "Orphanet:269",
      "SCTID:399091004",
      "UMLS:C0238288",
      "icd11.foundation:621965073"
    ],
    "synonyms": [
      "FSH dystrophy",
      "FSHD",
      "facioscapulohumeral dystrophy",
      "facioscapulohumeral muscular dystrophy",
      "facioscapulohumeral myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020360",
          "MEDGEN:1633060",
          "Orphanet:206644",
          "UMLS:C4551827"
        ],
        "synonyms": [
          "progressive muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0016106"
    }
  ],
  "children": [
    {
      "id": 9356,
      "label": "facioscapulohumeral muscular dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3573
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111192",
          "GARD:0015087",
          "MEDGEN:1727901",
          "MESH:C536391",
          "NCIT:C172704",
          "OMIM:158900",
          "UMLS:C5399970"
        ],
        "synonyms": [
          "FSHD",
          "FSHD1",
          "FSHD1A",
          "Landouzy-Dejerine muscular dystrophy",
          "facioscapulohumeral muscular dystrophy 1",
          "facioscapulohumeral muscular dystrophy 1A",
          "facioscapulohumeral muscular dystrophy type 1",
          "muscular dystrophy, facioscapulohumeral, type 1A",
          "Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included",
          "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles",
          "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included",
          "facioscapulohumeral muscular dystrophy, infantile",
          "muscular dystrophy, facioscapulohumeral, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008030"
    },
    {
      "id": 9357,
      "label": "facioscapulohumeral muscular dystrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3573
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111193",
          "GARD:0015088",
          "MEDGEN:320405",
          "MESH:C563557",
          "NCIT:C172705",
          "OMIM:158901",
          "UMLS:C1834671"
        ],
        "synonyms": [
          "SMCHD1 facioscapulohumeral muscular dystrophy",
          "facioscapulohumeral muscular dystrophy 2",
          "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1",
          "facioscapulohumeral muscular dystrophy type 2",
          "fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant",
          "FSHD2",
          "Fshd2, digenic",
          "facioscapulohumeral muscular dystrophy 2, digenic",
          "muscular dystrophy, facioscapulohumeral, type 1B",
          "muscular dystrophy, facioscapulohumeral, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008031"
    },
    {
      "id": 12018,
      "label": "muscular dystrophy, scapulohumeral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3573
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015317",
          "MEDGEN:98373",
          "MESH:C562932",
          "OMIM:600416",
          "SCTID:240074006",
          "UMLS:C0410192"
        ],
        "synonyms": [
          "muscular dystrophy, scapulohumeral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010884"
    },
    {
      "id": 21898,
      "label": "facioscapulohumeral muscular dystrophy 3, digenic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3573
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060917",
          "GARD:0025548",
          "MEDGEN:1794169",
          "OMIM:619477",
          "UMLS:C5561959"
        ],
        "synonyms": [
          "FSHD3",
          "facioscapulohumeral muscular dystrophy 3, digenic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030354"
    },
    {
      "id": 21899,
      "label": "facioscapulohumeral muscular dystrophy 4, digenic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3573
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060918",
          "GARD:0025549",
          "MEDGEN:1794170",
          "OMIM:619478",
          "UMLS:C5561960"
        ],
        "synonyms": [
          "FSHD4",
          "facioscapulohumeral muscular dystrophy 4, digenic",
          "facioscapulohumeral muscular dystrophy 4, digenic, digenic dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030355"
    }
  ],
  "roots": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy"
    }
  ]
}