{
  "id": 17246,
  "label": "Moyamoya disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016820",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 8158,
      "label": "cerebral arterial disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3527",
          "EFO:1000859",
          "MEDGEN:2963",
          "MESH:D002539",
          "UMLS:C0007774"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery."
      },
      "child_count": 4,
      "reference_id": "MONDO:0006693"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 10865,
      "label": "moyamoya disease 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024684",
          "ICD9:437.5",
          "MEDGEN:419790",
          "MESH:C536991",
          "OMIM:252350",
          "SCTID:69116000",
          "UMLS:C2931384"
        ],
        "synonyms": [
          "MYMY1",
          "Moyamoya disease",
          "Moyamoya disease 1",
          "spontaneous occlusion of the circle of Willis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009649"
    },
    {
      "id": 11607,
      "label": "moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16088,
        17246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017301",
          "MEDGEN:463207",
          "OMIM:300845",
          "Orphanet:280679",
          "UMLS:C3151857",
          "icd11.foundation:673174743"
        ],
        "synonyms": [
          "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism",
          "moyamoya disease 4, X-linked recessive",
          "MYMY4",
          "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism",
          "chromosome Xq28 deletion syndrome, 3.4-Kb",
          "syndromic Moyamoya disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010448"
    },
    {
      "id": 12868,
      "label": "Moyamoya disease 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015410",
          "MEDGEN:339584",
          "MESH:C536992",
          "NCIT:C183312",
          "OMIM:607151",
          "UMLS:C1846689"
        ],
        "synonyms": [
          "Moyamoya disease 2",
          "Moyamoya disease caused by mutation in RNF213",
          "Moyamoya disease type 2",
          "RNF213 Moyamoya disease",
          "moyamoya disease 2, susceptibility to",
          "MYMY2"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011784"
    },
    {
      "id": 13188,
      "label": "moyamoya disease 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015442",
          "MEDGEN:373326",
          "MESH:C536993",
          "OMIM:608796",
          "UMLS:C1837418"
        ],
        "synonyms": [
          "MYMY3",
          "Moyamoya disease 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012122"
    },
    {
      "id": 14570,
      "label": "Moyamoya disease 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14483,
        17246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015746",
          "MEDGEN:481320",
          "OMIM:614042",
          "UMLS:C3279690"
        ],
        "synonyms": [
          "ACTA2 Moyamoya disease",
          "Moyamoya disease 5",
          "Moyamoya disease caused by mutation in ACTA2",
          "Moyamoya disease type 5",
          "MYMY5"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013542"
    },
    {
      "id": 15333,
      "label": "Moyamoya disease with early-onset achalasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6151,
        17246
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014331"
    },
    {
      "id": 25874,
      "label": "moyamoya disease 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026974",
          "MEDGEN:1851566",
          "OMIM:620687",
          "UMLS:C5882748"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958202"
    },
    {
      "id": 26390,
      "label": "Moyamoya disease 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621469"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980949"
    }
  ],
  "roots": [
    {
      "id": 8158,
      "label": "cerebral arterial disease"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}