{
  "id": 13739,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2M",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012699",
  "properties": {
    "xrefs": [
      "DOID:0110296",
      "GARD:0012538",
      "MEDGEN:370585",
      "MESH:C566912",
      "OMIM:611588",
      "Orphanet:206554",
      "UMLS:C1969040"
    ],
    "synonyms": [
      "FKTN autosomal recessive limb-girdle muscular dystrophy",
      "LGMD-FKTN related",
      "LGMD2M",
      "MDDGC4",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN",
      "limb-girdle muscular dystrophy type 2M",
      "muscular dystrophy, limb-girdle, type 2M",
      "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2758,
      "label": "muscular dystrophy-dystroglycanopathy, type C",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022722",
          "OMIMPS:609308"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0000173"
    },
    {
      "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": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    },
    {
      "id": 24463,
      "label": "myopathy caused by variation in FKTN",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026340"
        ],
        "synonyms": [
          "FKTN myopathy",
          "FKTN-related myopathy",
          "myopathy caused by mutation in FKTN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any myopathy in which the cause of the disease is a variation in the FKTN gene."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700067"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2758,
      "label": "muscular dystrophy-dystroglycanopathy, type C"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    },
    {
      "id": 24463,
      "label": "myopathy caused by variation in FKTN"
    }
  ]
}