{
  "id": 10031,
  "label": "mitochondrial DNA depletion syndrome 4a",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008758",
  "properties": {
    "xrefs": [
      "DOID:0080122",
      "DOID:1442",
      "GARD:0005783",
      "ICD10CM:G31.81",
      "ICD9:330.8",
      "MEDGEN:60012",
      "MedDRA:10062943",
      "NCIT:C35257",
      "NORD:752",
      "OMIM:203700",
      "Orphanet:726",
      "SCTID:20415001",
      "UMLS:C0205710"
    ],
    "synonyms": [
      "AHD",
      "AHS",
      "Alper syndrome",
      "Alper's disease",
      "Alper's syndrome",
      "Alpers Disease",
      "Alpers Huttenlocher disease",
      "Alpers Huttenlocher syndrome",
      "Alpers disease",
      "Alpers progressive infantile poliodystrophy",
      "Alpers progressive sclerosing poliodystrophy",
      "Alpers syndrome",
      "Alpers-Huttenlocher",
      "Alpers-Huttenlocher syndrome",
      "mitochondrial DNA depletion syndrome 4A",
      "mitochondrial DNA depletion syndrome type 4a",
      "progressive neuronal degeneration of childhood with liver disease",
      "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis",
      "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis",
      "MTDPS4A",
      "PNDC",
      "Poliodystrophia cerebri progressiva",
      "diffuse cerebral degeneration in infancy",
      "infantile poliodystrophy",
      "mitochondrial DNA depletion syndrome 4A (Alpers type)",
      "neuronal Degeneration of childhood with liver disease, progressive",
      "progressive cerebral poliodystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 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"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    },
    {
      "id": 24237,
      "label": "mitochondrial DNA depletion syndrome, hepatocerebral form",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020769",
          "MEDGEN:777993",
          "MESH:C580039",
          "Orphanet:254871",
          "UMLS:C3711385",
          "icd11.foundation:1285620325"
        ],
        "synonyms": [
          "deoxyguanosine kinase deficiency",
          "mtDNA depletion syndrome, hepatocerebral form"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0100512"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    },
    {
      "id": 24237,
      "label": "mitochondrial DNA depletion syndrome, hepatocerebral form"
    }
  ]
}