{
  "id": 23969,
  "label": "LAMA2-related muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100228",
  "properties": {
    "xrefs": [
      "GARD:0026089",
      "MEDGEN:1826054",
      "UMLS:C5679788"
    ],
    "synonyms": [
      "LAMA2-related muscular dystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19744,
      "label": "muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24271,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9884",
          "GARD:0007922",
          "ICD10CM:G71.0",
          "ICD9:359.1",
          "MEDGEN:44527",
          "MESH:D009136",
          "MedDRA:10028356",
          "NANDO:1200486",
          "NANDO:2100233",
          "NCIT:C84910",
          "Orphanet:98473",
          "SCTID:73297009",
          "UMLS:C0026850",
          "icd11.foundation:1464662404"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities."
      },
      "child_count": 33,
      "reference_id": "MONDO:0020121"
    }
  ],
  "children": [
    {
      "id": 12999,
      "label": "congenital merosin-deficient muscular dystrophy 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19667,
        23969
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110636",
          "GARD:0003843",
          "MEDGEN:224728",
          "NANDO:2200861",
          "NCIT:C118783",
          "OMIM:607855",
          "Orphanet:258",
          "SCTID:111503008",
          "UMLS:C1263858"
        ],
        "synonyms": [
          "CMD1A",
          "LAMA2 congenital muscular dystrophy",
          "MDC1A",
          "congenital merosin-deficient muscular dystrophy type 1A",
          "congenital muscular dystrophy caused by mutation in LAMA2",
          "congenital muscular dystrophy due to laminin alpha2 deficiency",
          "merosin-deficient congenital muscular dystrophy type 1A",
          "merosin-negative congenital muscular dystrophy",
          "muscular dystrophy, congenital merosin-deficient, type 1A",
          "muscular dystrophy, congenital, merosin deficient or partially deficient",
          "LAMA2-related muscular dystrophy",
          "congenital muscular dystrophy type 1A",
          "laminin alpha-2 deficiency",
          "merosin-deficient congenital muscular dystrophy",
          "muscular dystrophy, congenital merosin-deficient",
          "muscular dystrophy, congenital merosin-deficient, 1A",
          "muscular dystrophy, congenital, due to partial LAMA2 deficiency",
          "muscular dystrophy, congenital, merosin-deficient"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011925"
    },
    {
      "id": 21780,
      "label": "muscular dystrophy, limb-girdle, autosomal recessive 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        23969
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061132",
          "GARD:0022270",
          "MEDGEN:1648462",
          "OMIM:618138",
          "Orphanet:565837",
          "UMLS:C4748327"
        ],
        "synonyms": [
          "laminin subunit alpha 2-related limb-girdle muscular dystrophy R23",
          "muscular dystrophy, limb-girdle, autosomal recessive 23",
          "LGMDR23"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0029136"
    }
  ],
  "roots": [
    {
      "id": 19744,
      "label": "muscular dystrophy"
    }
  ]
}