{
  "id": 24471,
  "label": "congenital muscular dystrophy caused by variation in POMGNT2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700075",
  "properties": {
    "xrefs": [
      "GARD:0026347"
    ],
    "synonyms": [
      "congenital muscular dystrophy caused by mutation in POMGNT2",
      "congenital muscular dystrophy-POMGNT2 related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 24465,
      "label": "myopathy caused by variation in POMGNT2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        17974,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026342"
        ],
        "synonyms": [
          "POMGNT2 myopathy",
          "POMGNT2-related myopathy",
          "myopathy caused by mutation in POMGNT2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0700069"
    }
  ],
  "children": [
    {
      "id": 14916,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        24471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111231",
          "GARD:0015846",
          "MEDGEN:766727",
          "OMIM:614830",
          "UMLS:C3553813"
        ],
        "synonyms": [
          "POMGNT2 muscular dystrophy-dystroglycanopathy, type A",
          "muscle-eye-brain-POMGNT2 related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8",
          "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2",
          "MDDGA8",
          "Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013904"
    },
    {
      "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": 19667,
      "label": "congenital muscular dystrophy"
    },
    {
      "id": 24465,
      "label": "myopathy caused by variation in POMGNT2"
    }
  ]
}