{
  "id": 15955,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2R1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014977",
  "properties": {
    "xrefs": [
      "DOID:0080762",
      "GARD:0017869",
      "MEDGEN:934627",
      "NCIT:C142082",
      "OMIM:617232",
      "Orphanet:480682",
      "UMLS:C4310660"
    ],
    "synonyms": [
      "LGMD2Z",
      "POGLUT1 autosomal recessive limb-girdle muscular dystrophy",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1",
      "autosomal recessive limb-girdle muscular dystrophy type 2Z",
      "limb-girdle muscular dystrophy type 2Z",
      "muscular dystrophy, limb-girdle, autosomal recessive 21",
      "muscular dystrophy, limb-girdle, type 2Z"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110274",
          "GARD:0019825",
          "MEDGEN:419194",
          "MESH:C538640",
          "OMIMPS:253600",
          "Orphanet:102015",
          "UMLS:C2931907",
          "icd11.foundation:319162980"
        ],
        "synonyms": [
          "autosomal recessive limb-girdle muscular dystrophy",
          "limb-girdle muscular dystrophy, autosomal recessive",
          "muscular dystrophy, limb-girdle, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of limb-girdle muscular dystrophy."
      },
      "child_count": 64,
      "reference_id": "MONDO:0015152"
    },
    {
      "id": 17974,
      "label": "disorder of protein O-glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168,
        23506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021336",
          "MEDGEN:1842631",
          "Orphanet:309447",
          "UMLS:C5681041",
          "icd11.foundation:1883085871"
        ],
        "synonyms": [
          "disorder of protein O-linked glycosylation",
          "protein O-linked glycosylation disease"
        ],
        "definition": "A disease that has its basis in the disruption of protein O-linked glycosylation."
      },
      "child_count": 12,
      "reference_id": "MONDO:0017741"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 17974,
      "label": "disorder of protein O-glycosylation"
    }
  ]
}