{
  "id": 19767,
  "label": "congenital vitreoretinal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020247",
  "properties": {
    "xrefs": [
      "GARD:0025155",
      "ICD9:743.56",
      "MEDGEN:757909",
      "Orphanet:98669",
      "SCTID:449866003",
      "UMLS:C3266134",
      "icd11.foundation:44221751"
    ],
    "synonyms": [
      "vitreoretinal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 19766,
      "label": "inherited vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019539",
          "HP:0007773",
          "Orphanet:98668"
        ],
        "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": 10,
      "reference_id": "MONDO:0020246"
    }
  ],
  "children": [
    {
      "id": 11027,
      "label": "osteoporosis-pseudoglioma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        19767,
        24623,
        24803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060849",
          "GARD:0004160",
          "MEDGEN:98480",
          "MESH:C536063",
          "MedDRA:10052452",
          "NCIT:C130998",
          "OMIM:259770",
          "Orphanet:2788",
          "UMLS:C0432252"
        ],
        "synonyms": [
          "OPPG",
          "osteoporosis-pseudoglioma syndrome",
          "Ops",
          "osteogenesis imperfecta ocular form",
          "osteogenesis imperfecta, ocular form",
          "osteoporosis pseudoglioma syndrome",
          "pseudoglioma with bone fragility"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009820"
    },
    {
      "id": 11443,
      "label": "Coats disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6162,
        19767
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7765",
          "GARD:0006121",
          "ICD9:362.12",
          "MEDGEN:1870587",
          "MESH:D058456",
          "MedDRA:10015901",
          "NORD:981",
          "OMIM:300216",
          "Orphanet:190",
          "SCTID:360455002",
          "UMLS:C5964756",
          "icd11.foundation:2032707885"
        ],
        "synonyms": [
          "Coats disease",
          "Leber miliary aneurysm",
          "congenital retinal telangiectasia",
          "exudative retinopathy",
          "retinal telangiectasis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010269"
    },
    {
      "id": 11777,
      "label": "incontinentia pigmenti",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19138,
        19767
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12305",
          "GARD:0006778",
          "ICD10CM:Q82.3",
          "MEDGEN:7049",
          "MESH:D007184",
          "NANDO:2200974",
          "NCIT:C84787",
          "NORD:1300",
          "OMIM:308300",
          "Orphanet:464",
          "SCTID:367520004",
          "UMLS:C0021171",
          "Wikipedia:Incongenita_pigmenti",
          "icd11.foundation:1542530268"
        ],
        "synonyms": [
          "Bloch-Siemens syndrome",
          "Bloch-Sulzberger syndrome",
          "Incontinentia pigmenti syndrome",
          "incontinentia pigmenti",
          "incontinentia pigmenti, X-linked dominant",
          "IP",
          "IP2 (formerly)",
          "Incontinentia pigmenti type 2 (formerly)",
          "Incontinentia pigmenti, familial Male-lethal type",
          "Incontinentia pigmenti, type II",
          "Incontinentia pigmenti, type II, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010631"
    },
    {
      "id": 11835,
      "label": "Norrie disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19767,
        24750
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060844",
          "GARD:0007224",
          "ICD9:743.8",
          "MEDGEN:75615",
          "MESH:C537849",
          "MedDRA:10069760",
          "NCIT:C118634",
          "NORD:1514",
          "OMIM:310600",
          "Orphanet:649",
          "SCTID:15228007",
          "UMLS:C0266526",
          "icd11.foundation:676214590"
        ],
        "synonyms": [
          "Episkopi blindness",
          "Norrie disease",
          "Norrie disease, X-linked recessive",
          "Norrie-Warburg disease",
          "atrophia bulborum hereditaria",
          "Anderson-Warburg syndrome",
          "ND",
          "NDP",
          "Norrie syndrome",
          "Norrie-Warburg syndrome",
          "fetal iritis syndrome",
          "foetal iritis syndrome",
          "nd",
          "pseudoglioma"
        ],
        "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 X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010691"
    },
    {
      "id": 12700,
      "label": "spondylo-ocular syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19767,
        24803,
        29253
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016740",
          "MEDGEN:900371",
          "OMIM:605822",
          "Orphanet:85194",
          "SCTID:715653007",
          "UMLS:C4225412",
          "icd11.foundation:1611450426"
        ],
        "synonyms": [
          "SOS",
          "spondyloocular syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011604"
    },
    {
      "id": 13855,
      "label": "Coats plus syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19767,
        23885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017412",
          "ICD9:348.89",
          "MEDGEN:383079",
          "MESH:C567401",
          "OMIMPS:612199",
          "Orphanet:313838",
          "SCTID:711482008",
          "UMLS:C2677299"
        ],
        "synonyms": [
          "CRMCC",
          "cerebroretinal microangiopathy with calcfications and cysts",
          "cerebroretinal microangiopathy with calcifications and cysts"
        ],
        "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": "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease."
      },
      "child_count": 6,
      "reference_id": "MONDO:0012815"
    },
    {
      "id": 18231,
      "label": "trisomy 13",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19767,
        24418,
        24461
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11665",
          "GARD:0007341",
          "ICD9:758.1",
          "MEDGEN:56261",
          "MESH:C536305",
          "MedDRA:10044686",
          "NANDO:2200964",
          "NCIT:C101223",
          "NCIT:C36529",
          "NORD:1796",
          "Orphanet:3378",
          "SCTID:21111006",
          "UMLS:C0152095",
          "icd11.foundation:1435958084"
        ],
        "synonyms": [
          "Patau syndrome",
          "Patau's syndrome",
          "Trisomy 13 Syndrome",
          "trisomy 13",
          "trisomy type 13",
          "D trisomy syndrome (formerly)",
          "D1 trisomy",
          "chromosome 13, trisomy 13 complete"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018068"
    },
    {
      "id": 18987,
      "label": "retinal capillary malformation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19767,
        20441,
        21330
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018908",
          "Orphanet:71213"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019101"
    },
    {
      "id": 19421,
      "label": "persistent hyperplastic primary vitreous",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6616,
        19767
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060282",
          "GARD:0016803",
          "MEDGEN:120583",
          "MESH:D054514",
          "NCIT:C161554",
          "OMIMPS:221900",
          "Orphanet:91495",
          "SCTID:314270008",
          "UMLS:C0266568",
          "icd11.foundation:1011137326"
        ],
        "synonyms": [
          "PFVS",
          "PHPV",
          "congenital retinal detachment",
          "ncRNA disease",
          "non-syndromic congenital retinal non-attachment",
          "persistent fetal vasculature syndrome",
          "persistent foetal vasculature syndrome"
        ],
        "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 developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)"
      },
      "child_count": 4,
      "reference_id": "MONDO:0019631"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 19766,
      "label": "inherited vitreoretinopathy"
    }
  ]
}