{
  "id": 5003,
  "label": "macular degeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003004",
  "properties": {
    "xrefs": [
      "DOID:4448",
      "EFO:0009606",
      "MEDGEN:7434",
      "MESH:D008268",
      "NCIT:C123330",
      "SCTID:422338006",
      "UMLS:C0024437"
    ],
    "synonyms": [
      "macula lutea retinal degeneration",
      "macula retinal degeneration",
      "retinal degeneration of macula lutea"
    ],
    "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": "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 6377,
      "label": "retinal degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8466",
          "MEDGEN:48432",
          "MESH:D012162",
          "NCIT:C34979",
          "SCTID:95695004",
          "UMLS:C0035304"
        ],
        "synonyms": [
          "retina degeneration",
          "retina, Degeneration Of"
        ],
        "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": "Degeneration of the retina."
      },
      "child_count": 6,
      "reference_id": "MONDO:0004580"
    }
  ],
  "children": [
    {
      "id": 2888,
      "label": "vitelliform macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050661",
          "GARD:0022762",
          "MEDGEN:137920",
          "MESH:D057826",
          "NANDO:1200932",
          "NCIT:C118788",
          "OMIMPS:153840",
          "SCTID:90036004",
          "UMLS:C0339510"
        ],
        "synonyms": [
          "macular dystrophy, vitelliform",
          "vitelliform macular 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": "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000390"
    },
    {
      "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": 5004,
      "label": "macular retinal edema",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003,
        5878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4449",
          "MEDGEN:75732",
          "NCIT:C35468",
          "SCTID:37231002",
          "UMLS:C0271051"
        ],
        "synonyms": [
          "macula lutea retinal edema",
          "macula lutea retinal oedema",
          "macular edema",
          "retinal edema of macula lutea",
          "retinal oedema of macula lutea",
          "edema, macular"
        ],
        "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": "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision."
      },
      "child_count": 2,
      "reference_id": "MONDO:0003005"
    },
    {
      "id": 13773,
      "label": "autosomal recessive bestrophinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5003,
        24634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050662",
          "GARD:0010301",
          "MEDGEN:854806",
          "MESH:C567518",
          "OMIM:611809",
          "Orphanet:139455",
          "SCTID:723828008",
          "UMLS:C3888198"
        ],
        "synonyms": [
          "retinopathy, Burgess-Black type",
          "ARB",
          "bestrophinopathy, autosomal recessive"
        ],
        "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": "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012733"
    },
    {
      "id": 14351,
      "label": "occult macular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5003,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050578",
          "GARD:0017200",
          "MEDGEN:462183",
          "NANDO:1200934",
          "OMIM:613587",
          "Orphanet:247834",
          "UMLS:C3150833",
          "icd11.foundation:863463706"
        ],
        "synonyms": [
          "OCMD",
          "OMD",
          "occult macular dystrophy",
          "Omd"
        ],
        "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": "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severely attenuated focal macular and multifocal electroretinograms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013316"
    },
    {
      "id": 15500,
      "label": "macular degeneration, early-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5003,
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024995",
          "MEDGEN:863723",
          "OMIM:616118",
          "UMLS:C4015286"
        ],
        "synonyms": [
          "macular degeneration, early-onset",
          "EOMD"
        ],
        "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:0014501"
    },
    {
      "id": 19189,
      "label": "Stargardt disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003,
        16936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050817",
          "GARD:0000181",
          "MEDGEN:75734",
          "MESH:D000080362",
          "MedDRA:10062766",
          "NANDO:1200933",
          "NCIT:C85078",
          "OMIMPS:248200",
          "Orphanet:827",
          "SCTID:47673003",
          "UMLS:C0271093",
          "icd11.foundation:1690038580"
        ],
        "synonyms": [
          "Stargardt 1",
          "fundus flavimaculatus",
          "Stargardt disease 1",
          "Stargardt macular dystrophy",
          "juvenile onset 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": "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019353"
    },
    {
      "id": 19841,
      "label": "patterned macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003,
        18892
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060863",
          "GARD:0025158",
          "OMIMPS:169150"
        ],
        "synonyms": [
          "macular dystrophy, patterned"
        ],
        "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 macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped."
      },
      "child_count": 6,
      "reference_id": "MONDO:0020381"
    },
    {
      "id": 25594,
      "label": "isolated macular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5003
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022097",
          "MEDGEN:1842262",
          "Orphanet:519302",
          "UMLS:C5681367"
        ],
        "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:0957048"
    }
  ],
  "roots": [
    {
      "id": 6377,
      "label": "retinal degeneration"
    }
  ]
}