{
  "id": 2758,
  "label": "muscular dystrophy-dystroglycanopathy, type C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000173",
  "properties": {
    "xrefs": [
      "GARD:0022722",
      "OMIMPS:609308"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 18393,
      "label": "muscular dystrophy-dystroglycanopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112374",
          "GARD:0012584",
          "MEDGEN:1842215",
          "Orphanet:370953",
          "UMLS:C5679911"
        ],
        "synonyms": [
          "CMD due to dystroglycanopathy",
          "muscular dystrophy-dystroglycanopathy",
          "congenital muscular dystrophy due to dystroglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0018276"
    }
  ],
  "children": [
    {
      "id": 13307,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2K",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        16771,
        24466
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110297",
          "GARD:0012535",
          "MEDGEN:332193",
          "NCIT:C133730",
          "OMIM:609308",
          "Orphanet:86812",
          "SCTID:720523006",
          "UMLS:C1836373"
        ],
        "synonyms": [
          "LGMD-POMT1 related",
          "LGMD2K",
          "MDDGC1",
          "POMT1 autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1",
          "limb-girdle muscular dystrophy-intellectual disability syndrome",
          "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1",
          "limb-girdle muscular dystrophy - intellectual disability",
          "limb-girdle muscular dystrophy type 2K",
          "muscular dystrophy, limb-girdle, type 2K",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012248"
    },
    {
      "id": 13739,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2M",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        16878,
        24463
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012699"
    },
    {
      "id": 14197,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2O",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        24464
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110292",
          "GARD:0012540",
          "MEDGEN:461767",
          "OMIM:613157",
          "Orphanet:206564",
          "UMLS:C3150417"
        ],
        "synonyms": [
          "LGMD-POMGNT1 related",
          "LGMD2O",
          "MDDGC3",
          "POMGNT1 autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1",
          "limb-girdle muscular dystrophy type 2O",
          "muscular dystrophy, limb-girdle, type 2O",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",
          "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013161"
    },
    {
      "id": 14198,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2N",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        16772,
        24467
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110298",
          "GARD:0012539",
          "MEDGEN:461768",
          "OMIM:613158",
          "Orphanet:206559",
          "UMLS:C3150418"
        ],
        "synonyms": [
          "LGMD-POMT2 related",
          "LGMD2N",
          "MDDGC2",
          "POMT2 autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2",
          "limb-girdle muscular dystrophy type 2N",
          "muscular dystrophy, limb-girdle, type 2N",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2",
          "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013162"
    },
    {
      "id": 14472,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2P",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110293",
          "GARD:0012541",
          "MEDGEN:1386785",
          "OMIM:613818",
          "Orphanet:280333",
          "UMLS:C4511963"
        ],
        "synonyms": [
          "DAG1 autosomal recessive limb-girdle muscular dystrophy",
          "LGMD2P",
          "MDDGC9",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1",
          "limb-girdle muscular dystrophy type 2P",
          "muscular dystrophy, limb-girdle, type 2P",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9",
          "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013440"
    },
    {
      "id": 15149,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        24480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110294",
          "GARD:0012544",
          "MEDGEN:1377325",
          "OMIM:615352",
          "Orphanet:363623",
          "UMLS:C4518000"
        ],
        "synonyms": [
          "GMPPB autosomal recessive limb-girdle muscular dystrophy",
          "LGMD-GMPPB related",
          "LGMD2T",
          "MDDGC14",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB",
          "limb-girdle muscular dystrophy type 2T",
          "muscular dystrophy, limb-girdle, type 2T",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14",
          "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014142"
    },
    {
      "id": 15473,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2U",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        24255
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110295",
          "GARD:0017519",
          "MEDGEN:1683417",
          "OMIM:616052",
          "Orphanet:352479",
          "UMLS:C5190987"
        ],
        "synonyms": [
          "ISPD autosomal recessive limb-girdle muscular dystrophy",
          "LGMD2U",
          "MDDGC7",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD",
          "muscular dystrophy, limb-girdle, type 2U",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014474"
    },
    {
      "id": 15488,
      "label": "limb-girdle muscular dystrophy due to POMK deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        16755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112381",
          "GARD:0017769",
          "MEDGEN:863621",
          "OMIM:616094",
          "Orphanet:445110",
          "UMLS:C4015184"
        ],
        "synonyms": [
          "LGMD due to POMK deficiency",
          "MDDGC12",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12",
          "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014489"
    },
    {
      "id": 21779,
      "label": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        24471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112382",
          "GARD:0016294",
          "MEDGEN:1648468",
          "OMIM:618135",
          "UMLS:C4748320"
        ],
        "synonyms": [
          "LGMD-POMGNT2 related myopathy",
          "MDDGC8",
          "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related",
          "muscular dystrophy, limb-girdle, autosomal recessive 24",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0029135"
    }
  ],
  "roots": [
    {
      "id": 18393,
      "label": "muscular dystrophy-dystroglycanopathy"
    }
  ]
}