{
  "id": 16745,
  "label": "sarcoglycanopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016140",
  "properties": {
    "xrefs": [
      "GARD:0020389",
      "MEDGEN:424705",
      "MESH:D058088",
      "Orphanet:207052",
      "UMLS:C2936331"
    ],
    "synonyms": [
      "qualitative or quantitative defects of sarcoglycan"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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"
    }
  ],
  "children": [
    {
      "id": 16746,
      "label": "qualitative or quantitative defects of alpha-sarcoglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16745,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020390",
          "MEDGEN:1842296",
          "Orphanet:207060",
          "UMLS:C5680808"
        ],
        "synonyms": [
          "alpha-sarcoglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016141"
    },
    {
      "id": 16747,
      "label": "qualitative or quantitative defects of beta-sarcoglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16745,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020391",
          "HGNC:10806",
          "MEDGEN:418943",
          "MESH:C535435",
          "Orphanet:207063",
          "UMLS:C2930900"
        ],
        "synonyms": [
          "beta-sarcoglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016142"
    },
    {
      "id": 16748,
      "label": "qualitative or quantitative defects of gamma-sarcoglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16745,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020392",
          "MEDGEN:1842385",
          "Orphanet:207067",
          "UMLS:C5680805"
        ],
        "synonyms": [
          "gamma-sarcoglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016143"
    },
    {
      "id": 16749,
      "label": "qualitative or quantitative defects of delta-sarcoglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16745,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020393",
          "MEDGEN:1826098",
          "Orphanet:207070",
          "UMLS:C5680806"
        ],
        "synonyms": [
          "delta-sarcoglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016144"
    }
  ],
  "roots": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    }
  ]
}