{
  "id": 16746,
  "label": "qualitative or quantitative defects of alpha-sarcoglycan",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016141",
  "properties": {
    "xrefs": [
      "GARD:0020390",
      "MEDGEN:1842296",
      "Orphanet:207060",
      "UMLS:C5680808"
    ],
    "synonyms": [
      "alpha-sarcoglycanopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 13039,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        16746,
        16878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110278",
          "GARD:0000438",
          "MEDGEN:424706",
          "NCIT:C142081",
          "OMIM:608099",
          "Orphanet:62",
          "SCTID:715340002",
          "UMLS:C2936332"
        ],
        "synonyms": [
          "Alpha-sarcoglycanopathy",
          "DMDA2",
          "LGMD2D",
          "SGCA autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA",
          "limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency",
          "limb-girdle muscular dystrophy type 2D",
          "muscular dystrophy, limb-girdle, autosomal recessive 3",
          "muscular dystrophy, limb-girdle, type 2D",
          "Adhalinopathy, primary",
          "Duchenne-like autosomal recessive muscular dystrophy, type 2",
          "limb-girdle muscular dystrophy, type 2D",
          "muscular dystrophy limb-girdle with alpha-sarcoglycan"
        ],
        "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 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011968"
    }
  ],
  "roots": [
    {
      "id": 16745,
      "label": "sarcoglycanopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}