{
  "id": 12999,
  "label": "congenital merosin-deficient muscular dystrophy 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011925",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050557",
          "GARD:0009138",
          "ICD9:359.0",
          "MEDGEN:147063",
          "Orphanet:97242",
          "SCTID:240059009",
          "UMLS:C0699743",
          "icd11.foundation:396687076"
        ],
        "synonyms": [
          "CMD",
          "MDC",
          "congenital MD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."
      },
      "child_count": 46,
      "reference_id": "MONDO:0019950"
    },
    {
      "id": 23969,
      "label": "LAMA2-related muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100228"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    },
    {
      "id": 23969,
      "label": "LAMA2-related muscular dystrophy"
    }
  ]
}