{
  "id": 11607,
  "label": "moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010448",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "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": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 17246,
      "label": "Moyamoya disease"
    }
  ]
}