{
  "id": 15333,
  "label": "Moyamoya disease with early-onset achalasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014331",
  "properties": {
    "xrefs": [
      "GARD:0017664",
      "MEDGEN:816733",
      "OMIM:615750",
      "Orphanet:401945",
      "SCTID:718551002",
      "UMLS:C3810403"
    ],
    "synonyms": [
      "moyamoya 6 with achalasia",
      "MYMY6",
      "Moyamoya disease 6 with achalasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6151,
      "label": "digestive system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:77",
          "ICD10CM:K00-K95",
          "ICD9:520-579",
          "ICD9:V47.3",
          "MEDGEN:892790",
          "MESH:D005767",
          "NANDO:1100013",
          "NCIT:C2990",
          "SCTID:53619000",
          "UMLS:C4023588",
          "icd11.foundation:1256772020"
        ],
        "synonyms": [
          "digestive disease",
          "digestive system disease",
          "digestive system disease or disorder",
          "digestive system disorder",
          "disease of digestive system",
          "disease or disorder of digestive system",
          "disorder of digestive system",
          "gastroenterological system disease",
          "gastroenterological system disorder",
          "gastrointestinal disorder",
          "gastrointestinal system disease",
          "gastrointestinal system disorder",
          "stomach or intestinal disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A disease or disorder that involves the digestive system."
      },
      "child_count": 31,
      "reference_id": "MONDO:0004335"
    },
    {
      "id": 17246,
      "label": "Moyamoya disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8158,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13099",
          "GARD:0007064",
          "ICD10CM:I67.5",
          "MEDGEN:7726",
          "MESH:D009072",
          "MedDRA:10028047",
          "NANDO:1200183",
          "NANDO:2100228",
          "NANDO:2200850",
          "NCIT:C84895",
          "NORD:1457",
          "OMIMPS:252350",
          "Orphanet:2573",
          "SCTID:89142007",
          "UMLS:C0026654",
          "icd11.foundation:1746892088",
          "icd11.foundation:369231682"
        ],
        "synonyms": [
          "idiopathic Moyamoya disease",
          "progressive intracranial arterial occlusion",
          "MYMY",
          "Moyamoya disease, primary",
          "Moyamoya disease, secondary"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016820"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6151,
      "label": "digestive system disorder"
    },
    {
      "id": 17246,
      "label": "Moyamoya disease"
    }
  ]
}