{
  "id": 19057,
  "label": "Axenfeld-Rieger syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019187",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 20691,
      "label": "neurocristopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of neural crest cell development",
          "disorder of neural crest development",
          "neural crest cell development disease"
        ],
        "definition": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021635"
    },
    {
      "id": 24305,
      "label": "ocular growth disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An eye disorder characterized by an aberrant development of the eye resulting in significant shortening or elongation, and therefore affecting the final ocular dimensions."
      },
      "child_count": 7,
      "reference_id": "MONDO:0100581"
    }
  ],
  "children": [
    {
      "id": 9685,
      "label": "Axenfeld-Rieger syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19057
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008386"
    },
    {
      "id": 12223,
      "label": "Axenfeld-Rieger syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19057
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110121",
          "GARD:0010517",
          "MEDGEN:316937",
          "MESH:C535680",
          "OMIM:601499",
          "UMLS:C1832229"
        ],
        "synonyms": [
          "RIEG2",
          "Axenfeld-Rieger syndrome, type 2",
          "Rieger syndrome, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011097"
    },
    {
      "id": 12353,
      "label": "Axenfeld-Rieger syndrome type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19057,
        23975
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110122",
          "GARD:0009626",
          "ICD9:743.44",
          "MEDGEN:394534",
          "OMIM:602482",
          "SCTID:22155002",
          "UMLS:C2678503"
        ],
        "synonyms": [
          "Axenfeld-Rieger syndrome caused by mutation in FOXC1",
          "Axenfeld-Rieger syndrome type 3",
          "FOXC1 Axenfeld-Rieger syndrome",
          "RIEG3",
          "anterior chamber cleavage syndrome",
          "Axenfeld anomaly",
          "Axenfeld-Rieger anomaly",
          "Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss",
          "Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss",
          "Axenfeld-Rieger syndrome, type 3",
          "Rieger anomaly",
          "Rieger syndrome, type 3",
          "anterior chamber Cleavage syndrome",
          "anterior segment mesenchymal dysgenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011233"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 20691,
      "label": "neurocristopathy"
    },
    {
      "id": 24305,
      "label": "ocular growth disorder"
    }
  ]
}