{
  "id": 16754,
  "label": "neuromuscular disease caused by qualitative or quantitative defects of TRIM32",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016153",
  "properties": {
    "xrefs": [
      "GARD:0020400",
      "MEDGEN:1843261",
      "Orphanet:207107",
      "UMLS:C5680829"
    ],
    "synonyms": [
      "qualitative or quantitative defects of TRIM32"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020388",
          "MEDGEN:1842598",
          "Orphanet:207049",
          "UMLS:C5680807"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0016139"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 10897,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2H",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        16754
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110282",
          "GARD:0003844",
          "ICD9:359.89",
          "MEDGEN:78750",
          "MESH:C535897",
          "OMIM:254110",
          "Orphanet:1878",
          "SCTID:43226001",
          "UMLS:C0270968"
        ],
        "synonyms": [
          "LGMD2H",
          "Sarcotubular myopathy",
          "TRIM32 autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32",
          "autosomal recessive limb-girdle muscular dystrophy type 2H",
          "limb-girdle muscular dystrophy due to TRIM32 deficiency",
          "muscular dystrophy, limb-girdle, autosomal recessive 8",
          "sarcotubular myopathy",
          "limb-girdle muscular dystrophy type 2H",
          "muscular dystrophy limb-girdle type 2H",
          "muscular dystrophy, Hutterite type",
          "muscular dystrophy, limb-girdle, type 2H"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009683"
    },
    {
      "id": 15439,
      "label": "Bardet-Biedl syndrome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16120,
        16754
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110133",
          "GARD:0010210",
          "MEDGEN:395295",
          "MESH:C565920",
          "OMIM:615988",
          "UMLS:C1859569"
        ],
        "synonyms": [
          "BBS11",
          "Bardet-Biedl syndrome 11",
          "Bardet-Biedl syndrome caused by mutation in TRIM32",
          "Bardet-Biedl syndrome type 11",
          "TRIM32 Bardet-Biedl syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014439"
    }
  ],
  "roots": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}