{
  "id": 17856,
  "label": "mitochondrial neurogastrointestinal encephalomyopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017575",
  "properties": {
    "xrefs": [
      "GARD:0009920",
      "MEDGEN:167876",
      "MESH:C537477",
      "NCIT:C119678",
      "NORD:1449",
      "Orphanet:298",
      "SCTID:718214007",
      "UMLS:C0872218"
    ],
    "synonyms": [
      "MNGIE",
      "Mitochondrial Neurogastrointestinal Encephalopathy",
      "Mitochondrial neurogastrointestinal encephalopathy",
      "mitochondrial Neurogastrointestingal encephalopathy",
      "MNGIE syndrome",
      "OGIMD",
      "POLIP",
      "mitochondrial neurogastrointestinal encephalopathy syndrome",
      "myoneurogastrointestinal encephalopathy syndrome",
      "oculogastrointestinal muscular dystrophy",
      "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction",
      "thymidine phosphorylase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    },
    {
      "id": 19102,
      "label": "inborn disorder of pyrimidine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19115,
        22988
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050832",
          "GARD:0018967",
          "MEDGEN:541208",
          "MedDRA:10070969",
          "Orphanet:79193",
          "UMLS:C0268127",
          "icd11.foundation:771608363"
        ],
        "synonyms": [
          "inborn error of pyrimidine nucleobase metabolic process",
          "inborn pyrimidine nucleobase metabolic process disorder",
          "pyrimidine metabolic disorder",
          "rare inborn error of pyrimidine nucleobase metabolic process",
          "disorder of pyrimidine metabolism"
        ],
        "definition": "ANPM"
      },
      "child_count": 18,
      "reference_id": "MONDO:0019238"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [
    {
      "id": 12401,
      "label": "mitochondrial DNA depletion syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17856,
        18302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080119",
          "GARD:0024787",
          "MEDGEN:1631838",
          "OMIM:603041",
          "UMLS:C4551995"
        ],
        "synonyms": [
          "mitochondrial DNA depletion syndrome 1",
          "mitochondrial DNA depletion syndrome type 1",
          "MTDPS1",
          "Mngie, tymp-related",
          "Polip syndrome",
          "mitochondrial DNA depletion syndrome 1 (MNGIE type)",
          "mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related",
          "myoneurogastrointestinal encephalopathy syndrome",
          "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011283"
    },
    {
      "id": 13832,
      "label": "mitochondrial DNA depletion syndrome 8a",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17231,
        17856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070331",
          "DOID:0080127",
          "GARD:0013200",
          "MEDGEN:412815",
          "OMIM:612075",
          "Orphanet:255235",
          "SCTID:765100000",
          "UMLS:C2749861"
        ],
        "synonyms": [
          "RRM2B mitochondrial DNA depletion syndrome",
          "mitochondrial DNA depletion syndrome caused by mutation in RRM2B",
          "mitochondrial DNA depletion syndrome type 8a",
          "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy",
          "MTDPS8A",
          "Mngie, Rrm2B-related",
          "RRM2B-related mitochondrial DNA depletion syndrome",
          "encephalomyopathic type with renal tubulopathy",
          "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)",
          "mitochondrial DNA depletion syndrome 8B (Mngie type)",
          "mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",
          "mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive",
          "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012792"
    },
    {
      "id": 14383,
      "label": "mitochondrial DNA depletion syndrome 4b",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17856,
        18302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080123",
          "GARD:0024915",
          "MEDGEN:462264",
          "OMIM:613662",
          "UMLS:C3150914"
        ],
        "synonyms": [
          "mitochondrial DNA depletion syndrome type 4b",
          "MTDPS4B",
          "Mngie, Polg-related",
          "mitochondrial DNA depletion syndrome 4B (MNGIE type)",
          "mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013350"
    },
    {
      "id": 22005,
      "label": "mitochondrial DNA depletion syndrome 20 (mngie type)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17856,
        18302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070451",
          "GARD:0025615",
          "MEDGEN:1804209",
          "OMIM:619780",
          "UMLS:C5676934"
        ],
        "synonyms": [
          "MTDPS20",
          "mitochondrial DNA depletion syndrome 20 (mngie type)",
          "mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030696"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 19102,
      "label": "inborn disorder of pyrimidine metabolism"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}