{
  "id": 19765,
  "label": "hereditary macular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020242",
  "properties": {
    "xrefs": [
      "GARD:0025154",
      "MEDGEN:137919",
      "NANDO:1200931",
      "NCIT:C140264",
      "Orphanet:98664",
      "SCTID:276436007",
      "UMLS:C0339508"
    ],
    "synonyms": [
      "genetic macular dystrophy",
      "genetic macular dystrophy (disease)"
    ],
    "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": "Macular dystrophy that is related to a change in a gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 17,
  "parents": [
    {
      "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": 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": 2917,
      "label": "cone dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050795",
          "GARD:0011897",
          "ICD9:362.75",
          "MEDGEN:676499",
          "MESH:D000077765",
          "NANDO:1200936",
          "NORD:991",
          "Orphanet:1871",
          "SCTID:312917007",
          "UMLS:C0730290"
        ],
        "synonyms": [
          "cone dystrophy",
          "progressive cone dystrophy",
          "stationary cone dystrophy",
          "retinal cone 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 inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000455"
    },
    {
      "id": 8744,
      "label": "coloboma of macula",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3690,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001436",
          "MEDGEN:342305",
          "OMIM:120300",
          "Orphanet:98945",
          "UMLS:C1852767",
          "icd11.foundation:366058642"
        ],
        "synonyms": [
          "coloboma of macula",
          "agenesis of macula",
          "hereditary macular coloboma (subtype)",
          "macular coloboma"
        ],
        "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": "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007351"
    },
    {
      "id": 8746,
      "label": "coloboma of macula-brachydactyly type B syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001437",
          "MEDGEN:343882",
          "MESH:C535969",
          "OMIM:120400",
          "Orphanet:1471",
          "SCTID:717785002",
          "UMLS:C1852752"
        ],
        "synonyms": [
          "Sorsby syndrome",
          "apical dystrophy",
          "coloboma of macula with type B brachydactyly"
        ],
        "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": "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007353"
    },
    {
      "id": 9264,
      "label": "benign concentric annular macular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19765,
        29266
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061106",
          "GARD:0009887",
          "MEDGEN:1794135",
          "MESH:C537833",
          "OMIM:153870",
          "Orphanet:251287",
          "SCTID:719520001",
          "UMLS:C5561925",
          "icd11.foundation:1839503243"
        ],
        "synonyms": [
          "retinitis pigmentosa 91",
          "Mcdca",
          "macular dystrophy, benign concentric annular",
          "macular dystrophy, concentric annular",
          "maculopathy, bull's eye"
        ],
        "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": "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007934"
    },
    {
      "id": 9266,
      "label": "macular dystrophy, fenestrated sheen type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18261,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024588",
          "MEDGEN:331921",
          "MESH:C563607",
          "OMIM:153890",
          "UMLS:C1835173"
        ],
        "synonyms": [
          "macular dystrophy, fenestrated sheen type"
        ],
        "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:0007936"
    },
    {
      "id": 10256,
      "label": "macular coloboma-cleft palate-hallux valgus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016802",
          "MEDGEN:341812",
          "MESH:C565686",
          "OMIM:216800",
          "Orphanet:91494",
          "SCTID:722463001",
          "UMLS:C1857619"
        ],
        "synonyms": [
          "coloboma of macula and skeletal anomalies"
        ],
        "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": "Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009001"
    },
    {
      "id": 10273,
      "label": "macular corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19763,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2565",
          "GARD:0006953",
          "ICD10CM:H18.55",
          "ICD9:371.55",
          "MEDGEN:351514",
          "MESH:C537834",
          "MedDRA:10025406",
          "NCIT:C34793",
          "OMIM:217800",
          "Orphanet:98969",
          "SCTID:60258001",
          "UMLS:C1636149",
          "icd11.foundation:791344343"
        ],
        "synonyms": [
          "Fehr corneal dystrophy",
          "MCD",
          "corneal dystrophy Groenouw type II",
          "macular corneal dystrophy",
          "Groenouw type 2 corneal dystrophy",
          "Groenouw type II corneal dystrophy",
          "Mcdc1",
          "Mcdc1, formerly",
          "corneal dystrophy, macular type",
          "macular corneal dystrophy type 1",
          "macular corneal dystrophy, type 1",
          "macular corneal dystrophy, type 2",
          "macular dystrophy, corneal",
          "macular dystrophy, corneal type 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": "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009020"
    },
    {
      "id": 10399,
      "label": "EEM syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        18362,
        18956,
        19138,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111649",
          "GARD:0002078",
          "MEDGEN:341679",
          "MESH:C536190",
          "OMIM:225280",
          "Orphanet:1897",
          "SCTID:720856002",
          "UMLS:C1857041"
        ],
        "synonyms": [
          "EEM syndrome",
          "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome",
          "EEMS",
          "ectodermal dysplasia, ectrodactyly, and macular dystrophy",
          "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009155"
    },
    {
      "id": 10770,
      "label": "renal hypomagnesemia 5 with ocular involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17901,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060881",
          "GARD:0003451",
          "MEDGEN:1648449",
          "MESH:C536148",
          "OMIM:248190",
          "Orphanet:2196",
          "UMLS:C4721891"
        ],
        "synonyms": [
          "FHHNC with severe ocular involvement",
          "FHHNCOI",
          "Meier-Blumberg-Imahorn syndrome",
          "hypercalciuria-bilateral macular coloboma syndrome",
          "HOMG5",
          "Meier Blumberg Imahorn syndrome",
          "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement",
          "hypomagnesemia 5, renal, with ocular involvement",
          "hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement",
          "hypomagnesemia, renal, with ocular involvement",
          "idiopathic hypercalciuria with bilateral macular colobomata",
          "macular coloboma, bilateral, with hypercalciuria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009548"
    },
    {
      "id": 11792,
      "label": "macular dystrophy, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024744",
          "MEDGEN:374323",
          "MESH:C564110",
          "OMIM:309100",
          "UMLS:C1839842"
        ],
        "synonyms": [
          "macular dystrophy, X-linked"
        ],
        "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:0010646"
    },
    {
      "id": 13165,
      "label": "AICA-ribosiduria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        16198,
        19100,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013781",
          "MEDGEN:332474",
          "MESH:C563876",
          "OMIM:608688",
          "Orphanet:250977",
          "SCTID:725289009",
          "UMLS:C1837530"
        ],
        "synonyms": [
          "5-amino-4-imidazole carboxamide ribosiduria",
          "AICA-ribosiduria due to ATIC deficiency",
          "ATIC deficiency",
          "AICAR transformylase/IMP cyclohydrolase deficiency",
          "Aica-Ribosuria due to Atic deficiency",
          "Atic deficiency"
        ],
        "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": "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012099"
    },
    {
      "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": 16936,
      "label": "familial flecked retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:227786",
          "icd11.foundation:979898273"
        ],
        "synonyms": [
          "hereditary flecked retinopathy"
        ],
        "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": 5,
      "reference_id": "MONDO:0016420"
    },
    {
      "id": 18892,
      "label": "patterned dystrophy of the retinal pigment epithelium",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009821",
          "MEDGEN:357005",
          "MESH:C536309",
          "Orphanet:63454",
          "UMLS:C1868569"
        ],
        "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": 5,
      "reference_id": "MONDO:0018973"
    },
    {
      "id": 22223,
      "label": "macular dystrophy, retinal",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070438",
          "GARD:0025694",
          "OMIMPS:136550"
        ],
        "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": 5,
      "reference_id": "MONDO:0031166"
    },
    {
      "id": 25930,
      "label": "macular dystrophy with or without cone dysfunction",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027008",
          "MEDGEN:1853300",
          "OMIM:620762",
          "UMLS:C5935594"
        ],
        "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:0958326"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}