{
  "id": 9685,
  "label": "Axenfeld-Rieger syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008386",
  "properties": {
    "xrefs": [
      "DOID:0110120",
      "GARD:0010281",
      "MEDGEN:811487",
      "NCIT:C75015",
      "OMIM:180500",
      "UMLS:C3714873"
    ],
    "synonyms": [
      "Axenfeld-Rieger syndrome caused by mutation in PITX2",
      "Axenfeld-Rieger syndrome type 1",
      "PITX2 Axenfeld-Rieger syndrome",
      "RIEG1",
      "Rieger syndrome type 1",
      "Axenfeld-Rieger syndrome, type 1",
      "Rgs",
      "Rieg",
      "Rieger syndrome, type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19057,
      "label": "Axenfeld-Rieger syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        16089,
        20691,
        24305
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14686",
          "GARD:0005701",
          "ICD9:743.44",
          "MEDGEN:501192",
          "MESH:C535679",
          "MedDRA:10059255",
          "NCIT:C131001",
          "NORD:1670",
          "OMIMPS:180500",
          "Orphanet:782",
          "SCTID:47507006",
          "UMLS:C3495488"
        ],
        "synonyms": [
          "ARS",
          "Axenfeld syndrome",
          "Axenfeldt-Rieger syndrome",
          "Rieger syndrome",
          "goniodysgenesis hypodontia",
          "iridogoniodysgenesis with somatic anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies."
      },
      "child_count": 15,
      "reference_id": "MONDO:0019187"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19057,
      "label": "Axenfeld-Rieger syndrome"
    }
  ]
}