{
  "id": 14472,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2P",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013440",
  "properties": {
    "xrefs": [
      "DOID:0110293",
      "GARD:0012541",
      "MEDGEN:1386785",
      "OMIM:613818",
      "Orphanet:280333",
      "UMLS:C4511963"
    ],
    "synonyms": [
      "DAG1 autosomal recessive limb-girdle muscular dystrophy",
      "LGMD2P",
      "MDDGC9",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1",
      "limb-girdle muscular dystrophy type 2P",
      "muscular dystrophy, limb-girdle, type 2P",
      "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9",
      "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2758,
      "label": "muscular dystrophy-dystroglycanopathy, type C",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022722",
          "OMIMPS:609308"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0000173"
    },
    {
      "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": 16168,
      "label": "congenital disorder of glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5212",
          "GARD:0010307",
          "ICD9:271.8",
          "MEDGEN:76469",
          "MESH:D018981",
          "NCIT:C84615",
          "Orphanet:137",
          "SCTID:238049009",
          "UMLS:C0282577"
        ],
        "synonyms": [
          "CDG",
          "carbohydrate deficient glycoprotein syndrome",
          "carbohydrate-deficient glycoprotein syndrome",
          "congenital disorder of glycosylation",
          "carbohydrate-deficient glycoprotein syndromes",
          "congenital disorders of glycosylation"
        ],
        "definition": "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation."
      },
      "child_count": 25,
      "reference_id": "MONDO:0015286"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2758,
      "label": "muscular dystrophy-dystroglycanopathy, type C"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16168,
      "label": "congenital disorder of glycosylation"
    }
  ]
}