{
  "id": 14978,
  "label": "PGM1-congenital disorder of glycosylation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013968",
  "properties": {
    "xrefs": [
      "DOID:0080570",
      "GARD:0004329",
      "MEDGEN:414536",
      "MESH:C567859",
      "NANDO:1200836",
      "OMIM:614921",
      "Orphanet:319646",
      "UMLS:C2752015",
      "icd11.foundation:1592319293"
    ],
    "synonyms": [
      "CDG syndrome type It",
      "CDG-It",
      "CDG1T",
      "PGM1-CDG",
      "PGM1-congenital disorder of glycosylation",
      "congenital disorder of glycosylation type 1t",
      "congenital disorder of glycosylation type It",
      "phosphoglucomutase-1 deficiency",
      "CDG it",
      "GSD 14",
      "GSD type 14",
      "GSDXIV",
      "Pgm1 deficiency",
      "congenital disorder of glycosylation, type It",
      "glycogen storage disease 14",
      "glycogen storage disease due to phosphoglucomutase deficiency",
      "phosphoglucomutase 1 deficiency",
      "phosphoglucomutase deficiency type 1",
      "type 14 glycogenosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    },
    {
      "id": 17973,
      "label": "disorder of protein N-glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168,
        23506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021335",
          "MEDGEN:1826111",
          "Orphanet:309347",
          "UMLS:C5681044",
          "icd11.foundation:292641586"
        ],
        "synonyms": [
          "disorder of protein N-linked glycosylation",
          "protein N-linked glycosylation disease"
        ],
        "definition": "A disease that has its basis in the disruption of protein N-linked glycosylation."
      },
      "child_count": 52,
      "reference_id": "MONDO:0017740"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7156,
      "label": "congenital disorder of glycosylation type I"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    },
    {
      "id": 17973,
      "label": "disorder of protein N-glycosylation"
    }
  ]
}