{
  "id": 16749,
  "label": "qualitative or quantitative defects of delta-sarcoglycan",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016144",
  "properties": {
    "xrefs": [
      "GARD:0020393",
      "MEDGEN:1826098",
      "Orphanet:207070",
      "UMLS:C5680806"
    ],
    "synonyms": [
      "delta-sarcoglycanopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16745,
      "label": "sarcoglycanopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016140"
    },
    {
      "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": 12154,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        16749,
        16878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110280",
          "GARD:0008573",
          "MEDGEN:331308",
          "MESH:C535896",
          "OMIM:601287",
          "Orphanet:219",
          "SCTID:718177001",
          "UMLS:C1832525"
        ],
        "synonyms": [
          "delta-sarcoglycanopathy",
          "LGMD2F",
          "SGCD autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD",
          "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency",
          "muscular dystrophy, limb-girdle, autosomal recessive 6",
          "limb-girdle muscular dystrophy type 2F",
          "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency",
          "muscular dystrophy, limb-girdle, type 2F"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011028"
    },
    {
      "id": 12791,
      "label": "dilated cardiomyopathy 1L",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16749,
        24709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110436",
          "GARD:0015397",
          "MEDGEN:335735",
          "MESH:C564679",
          "OMIM:606685",
          "UMLS:C1847667"
        ],
        "synonyms": [
          "CMD1L",
          "SGCD familial isolated dilated cardiomyopathy",
          "cardiomyopathy, dilated, type 1L",
          "dilated cardiomyopathy type 1L",
          "familial isolated dilated cardiomyopathy caused by mutation in SGCD",
          "cardiomyopathy, dilated, 1L"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011702"
    }
  ],
  "roots": [
    {
      "id": 16745,
      "label": "sarcoglycanopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}