{
  "id": 6874,
  "label": "age-related macular degeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005150",
  "properties": {
    "xrefs": [
      "DOID:10871",
      "EFO:0001365",
      "GARD:0027715",
      "ICD9:362.50",
      "MEDGEN:116576",
      "NCIT:C84391",
      "OMIMPS:603075",
      "Orphanet:279",
      "SCTID:267718000",
      "UMLS:C0242383",
      "birnlex:12812",
      "icd11.foundation:1514301548"
    ],
    "synonyms": [
      "AMD",
      "ARMD",
      "Senile macular retinal degeneration",
      "age-related macular degeneration",
      "macular degeneration, age-related",
      "age related macular degeneration"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 4301,
      "label": "degeneration of macula and posterior pole",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2007",
          "ICD10CM:H35.3",
          "ICD9:362.5",
          "MEDGEN:573150",
          "SCTID:267611002",
          "UMLS:C0339436"
        ],
        "synonyms": [
          "degeneration of macula and posterior pole of retina"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0002175"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    }
  ],
  "children": [
    {
      "id": 7090,
      "label": "wet macular degeneration",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10873",
          "EFO:0004683",
          "GARD:0024181",
          "ICD9:362.52",
          "MEDGEN:389185",
          "MESH:D057135",
          "SCTID:414173003",
          "UMLS:C2237660"
        ],
        "synonyms": [
          "exudative senile macular degeneration of retina",
          "wet AMD",
          "wet ARMD",
          "wet age related macular degeneration",
          "Kuhnt-Junius degeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005417"
    },
    {
      "id": 9262,
      "label": "age related macular degeneration 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110015",
          "GARD:0024587",
          "MEDGEN:501183",
          "MESH:C562479",
          "OMIM:153800",
          "UMLS:C3495438"
        ],
        "synonyms": [
          "ARMD2",
          "age related macular degeneration type 2",
          "macular Degeneration, age-related, type 2",
          "macular Degeneration, Senile",
          "macular degeneration, age-related, 2",
          "maculopathy, age-related, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007932"
    },
    {
      "id": 12403,
      "label": "age related macular degeneration 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110014",
          "GARD:0024788",
          "MEDGEN:400475",
          "MESH:C566411",
          "OMIM:603075",
          "UMLS:C1864205"
        ],
        "synonyms": [
          "macular degeneration, age-related",
          "ARMD1",
          "age related macular degeneration type 1",
          "macular Degeneration, age-related, type 1",
          "macular degeneration, age-related, reduced risk of",
          "macular degeneration, age-related, 1",
          "maculopathy, age-related, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011285"
    },
    {
      "id": 13209,
      "label": "macular degeneration, age-related, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024848",
          "MEDGEN:373276",
          "MESH:C563838",
          "OMIM:608895",
          "UMLS:C1837187"
        ],
        "synonyms": [
          "FBLN5 age-related macular degeneration",
          "age-related macular degeneration caused by mutation in FBLN5",
          "macular Degeneration, age-related, type 3",
          "macular degeneration, age-related, 3",
          "ARMD3",
          "HNARMD",
          "neuropathy, hereditary, with or without age-related macular Degeneration",
          "neuropathy, hereditary, with or without age-related macular degeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012145"
    },
    {
      "id": 13470,
      "label": "age related macular degeneration 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110019",
          "GARD:0024864",
          "MEDGEN:347554",
          "MESH:C565718",
          "OMIM:610149",
          "UMLS:C1857813"
        ],
        "synonyms": [
          "ARMD7",
          "HTRA1 age-related macular degeneration",
          "age related macular degeneration type 7",
          "age-related macular degeneration caused by mutation in HTRA1",
          "macular Degeneration, age-related, type 7",
          "macular degeneration, age-related, neovascular type",
          "macular Degeneration, age-related, neovascular type, susceptibility to",
          "macular Degeneration, age-related, wet type, susceptibility to",
          "macular degeneration, age-related, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012419"
    },
    {
      "id": 13588,
      "label": "age related macular degeneration 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110017",
          "GARD:0024872",
          "MEDGEN:339914",
          "MESH:C565196",
          "OMIM:610698",
          "UMLS:C1853147"
        ],
        "synonyms": [
          "ARMD4",
          "CFH age-related macular degeneration",
          "age related macular degeneration type 4",
          "age-related macular degeneration caused by mutation in CFH",
          "macular Degeneration, age-related, type 4",
          "macular degeneration, age-related, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012540"
    },
    {
      "id": 13700,
      "label": "age related macular degeneration 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110021",
          "GARD:0024877",
          "MEDGEN:370717",
          "MESH:C566958",
          "OMIM:611378",
          "UMLS:C1969651"
        ],
        "synonyms": [
          "ARMD9",
          "C3 age-related macular degeneration",
          "age related macular degeneration type 9",
          "age-related macular degeneration caused by mutation in C3",
          "macular Degeneration, age-related, type 9",
          "macular degeneration, age-related, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012659"
    },
    {
      "id": 13714,
      "label": "age related macular degeneration 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110022",
          "GARD:0024878",
          "MEDGEN:409758",
          "MESH:C566935",
          "OMIM:611488",
          "UMLS:C1969108"
        ],
        "synonyms": [
          "ARMD10",
          "TLR4 age-related macular degeneration",
          "age related macular degeneration type 10",
          "macular Degeneration, age-related, type 10",
          "macular degeneration, age-related, 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012674"
    },
    {
      "id": 13807,
      "label": "age related macular degeneration 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110023",
          "GARD:0024887",
          "MEDGEN:393833",
          "MESH:C567450",
          "OMIM:611953",
          "UMLS:C2677774"
        ],
        "synonyms": [
          "ARMD11",
          "CST3 age-related macular degeneration",
          "age related macular degeneration type 11",
          "age-related macular degeneration caused by mutation in CST3",
          "macular Degeneration, age-related, type 11",
          "macular degeneration, age-related, 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012767"
    },
    {
      "id": 14438,
      "label": "age related macular degeneration 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110018",
          "GARD:0024919",
          "MEDGEN:462410",
          "MESH:C563674",
          "OMIM:613757",
          "UMLS:C3151060"
        ],
        "synonyms": [
          "ARMD6",
          "RAX2 age-related macular degeneration",
          "age related macular degeneration type 6",
          "age-related macular degeneration caused by mutation in RAX2",
          "macular Degeneration, age-related, type 6",
          "macular degeneration, age-related, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013406"
    },
    {
      "id": 14448,
      "label": "age related macular degeneration 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110020",
          "GARD:0024923",
          "MEDGEN:462420",
          "OMIM:613778",
          "UMLS:C3151070"
        ],
        "synonyms": [
          "ARMD8",
          "ARMS2 age-related macular degeneration",
          "age related macular degeneration type 8",
          "age-related macular degeneration caused by mutation in ARMS2",
          "macular Degeneration, age-related, type 8",
          "macular degeneration, age-related, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013416"
    },
    {
      "id": 14452,
      "label": "age related macular degeneration 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110024",
          "GARD:0024924",
          "MEDGEN:462429",
          "OMIM:613784",
          "UMLS:C3151079"
        ],
        "synonyms": [
          "ARMD12",
          "CX3CR1 age-related macular degeneration",
          "age related macular degeneration type 12",
          "age-related macular degeneration caused by mutation in CX3CR1",
          "macular Degeneration, age-related, type 12",
          "macular degeneration, age-related, 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013420"
    },
    {
      "id": 15213,
      "label": "age related macular degeneration 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110026",
          "GARD:0024978",
          "MEDGEN:815983",
          "OMIM:615489",
          "UMLS:C3809653"
        ],
        "synonyms": [
          "ARMD14",
          "age related macular degeneration type 14",
          "macular Degeneration, age-related, type 14",
          "macular degeneration, age-related, 14, reduced risk of, digenic dominant",
          "macular Degeneration, age-related, reduced risk of",
          "macular degeneration, age-related, 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014207"
    },
    {
      "id": 15514,
      "label": "macular dystrophy with central cone involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024996",
          "MEDGEN:863808",
          "OMIM:616170",
          "UMLS:C4015371"
        ],
        "synonyms": [
          "macular dystrophy with central cone involvement",
          "CCMD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014515"
    },
    {
      "id": 23864,
      "label": "dry age related macular degeneration",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026051",
          "MEDGEN:543161",
          "MedDRA:10075567",
          "UMLS:C0271083"
        ],
        "synonyms": [
          "dry AMD",
          "dry ARMD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100114"
    }
  ],
  "roots": [
    {
      "id": 4301,
      "label": "degeneration of macula and posterior pole"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}