{
  "id": 14087,
  "label": "DPM3-congenital disorder of glycosylation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013049",
  "properties": {
    "xrefs": [
      "GARD:0012395",
      "MEDGEN:414534",
      "MESH:C567857",
      "OMIM:612937",
      "Orphanet:263494",
      "SCTID:725044000",
      "UMLS:C2752007"
    ],
    "synonyms": [
      "CDG syndrome type Io",
      "CDG-Io",
      "CDG1O",
      "DPM3-CDG",
      "DPM3-congenital disorder of glycosylation",
      "carbohydrate deficient glycoprotein syndrome type Io",
      "congenital disorder of glycosylation type 1o",
      "congenital disorder of glycosylation type Io",
      "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15",
      "CDG Io",
      "CDGIo",
      "Cdg1(Dpm3)",
      "DG1O",
      "DPM3-CDG (CDG-Io)",
      "congenital disorder of glycosylation, type Io"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 7156,
      "label": "congenital disorder of glycosylation type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050570",
          "EFO:0005545",
          "GARD:0024196",
          "MEDGEN:1684618",
          "OMIMPS:212065",
          "UMLS:C4700504"
        ],
        "synonyms": [
          "congenital disorders of glycosylation, type I",
          "ALG1-CDG",
          "ALG1-CDG (CDG-1k)",
          "ALG11-CDG",
          "ALG11-CDG (CDG-1p)",
          "ALG12-CDG",
          "ALG12-CDG (CDG-1g)",
          "ALG2-CDG",
          "ALG2-CDG (CDG-1i)",
          "ALG3-CDG",
          "ALG3-CDG (CDG-1d)",
          "ALG6-CDG",
          "ALG6-CDG (CDG-1c)",
          "ALG8-CDG",
          "ALG8-CDG (CDG-1h)",
          "ALG9-CDG",
          "ALG9-CDG (CDG-1l)",
          "DOLK-CDG",
          "DOLK-CDG (CDG-1m)",
          "DPAGT1-CDG",
          "DPAGT1-CDG (CDG-1j)",
          "DPM1-CDG",
          "DPM1-CDG (CDG-1e)",
          "DPM2-CDG",
          "DPM2-CDG (CDG-1u)",
          "DPM3-CDG",
          "DPM3-CDG (CDG-1o)",
          "MPDU1-CDG",
          "MPDU1-CDG (CDG-1f)",
          "MPI-CDG",
          "MPI-CDG (CDG-1b)",
          "PMM2-CDG",
          "PMM2-CDG (CDG-1a)",
          "RFT1-CDG",
          "RFT1-CDG (CDG-1n)",
          "SRD5A3-CDG",
          "SRD5A3-CDG (CDG-1q)"
        ],
        "definition": "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor."
      },
      "child_count": 28,
      "reference_id": "MONDO:0005500"
    },
    {
      "id": 17978,
      "label": "disorder of multiple glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021343",
          "MEDGEN:1843364",
          "Orphanet:309526",
          "UMLS:C5681039",
          "icd11.foundation:684473574"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0017749"
    },
    {
      "id": 18393,
      "label": "muscular dystrophy-dystroglycanopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112374",
          "GARD:0012584",
          "MEDGEN:1842215",
          "Orphanet:370953",
          "UMLS:C5679911"
        ],
        "synonyms": [
          "CMD due to dystroglycanopathy",
          "muscular dystrophy-dystroglycanopathy",
          "congenital muscular dystrophy due to dystroglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0018276"
    }
  ],
  "children": [
    {
      "id": 22682,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        14087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112376",
          "GARD:0025809",
          "MEDGEN:1755743",
          "OMIM:618992",
          "UMLS:C5436552"
        ],
        "synonyms": [
          "MDDGB15",
          "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15",
          "muscular dystrophy, congenital, DPM3-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033556"
    }
  ],
  "roots": [
    {
      "id": 7156,
      "label": "congenital disorder of glycosylation type I"
    },
    {
      "id": 17978,
      "label": "disorder of multiple glycosylation"
    },
    {
      "id": 18393,
      "label": "muscular dystrophy-dystroglycanopathy"
    }
  ]
}