{
  "id": 19769,
  "label": "hereditary optic neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020249",
  "properties": {
    "xrefs": [
      "GARD:0019540",
      "MedDRA:10061323",
      "Orphanet:98671",
      "icd11.foundation:2452831"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    }
  ],
  "children": [
    {
      "id": 9448,
      "label": "isolated optic nerve hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19769,
        24875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111531",
          "GARD:0008419",
          "MEDGEN:322281",
          "NORD:1528",
          "OMIM:165550",
          "Orphanet:137902",
          "Orphanet:637061",
          "SCTID:724999003",
          "UMLS:C1833797",
          "icd11.foundation:609162974"
        ],
        "synonyms": [
          "Optic Nerve Hypoplasia",
          "familial bilateral optic nerve hypoplasia",
          "optic nerve hypoplasia, bilateral",
          "optic nerve hypoplasia, familial bilateral",
          "isolated optic nerve hypoplasia/aplasia",
          "optic nerve aplasia, bilateral",
          "optic nerve hypoplasia"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008136"
    },
    {
      "id": 11925,
      "label": "Leber hereditary optic neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16878,
        16918,
        19769,
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:705",
          "GARD:0006870",
          "MEDGEN:182973",
          "MESH:D029242",
          "NANDO:1200178",
          "NANDO:1200940",
          "NCIT:C84808",
          "NORD:1352",
          "OMIM:535000",
          "Orphanet:104",
          "SCTID:58610003",
          "UMLS:C0917796",
          "icd11.foundation:1018428959"
        ],
        "synonyms": [
          "LHON",
          "Leber Hereditary optic atrophy",
          "Leber hereditary optic neuropathy",
          "Leber optic atrophy",
          "Leber’s disease",
          "optic atrophy, Leber type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010788"
    },
    {
      "id": 13277,
      "label": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19084,
        19769,
        23292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070531",
          "GARD:0017632",
          "MEDGEN:814203",
          "MESH:C563774",
          "OMIM:609218",
          "Orphanet:397618",
          "UMLS:C3807873"
        ],
        "synonyms": [
          "FHONDA syndrome",
          "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome",
          "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis",
          "foveal hypoplasia type 2",
          "FVH2",
          "foveal hypoplasia 2",
          "foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism",
          "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012216"
    },
    {
      "id": 15009,
      "label": "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        19769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017411",
          "MEDGEN:1662266",
          "OMIM:614979",
          "Orphanet:313800",
          "UMLS:C4749914"
        ],
        "synonyms": [
          "ROSAH",
          "ROSAH syndrome",
          "optic nerve edema-splenomegaly syndrome",
          "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache",
          "splenomegaly, cytopenia, and vision loss"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013999"
    },
    {
      "id": 18313,
      "label": "morning glory syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8747,
        19769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013354",
          "MEDGEN:767635",
          "MedDRA:10027974",
          "Orphanet:35737",
          "UMLS:C3554721"
        ],
        "synonyms": [
          "Ectasic coloboma",
          "Volubilis 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": "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disk malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018169"
    },
    {
      "id": 18939,
      "label": "autosomal recessive osteopetrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17540,
        19769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015012",
          "MEDGEN:1385510",
          "NCIT:C129733",
          "OMIMPS:259700",
          "Orphanet:667",
          "SCTID:367489004",
          "UMLS:C4272578"
        ],
        "synonyms": [
          "OPTB",
          "autosomal recessive malignant osteopetrosis",
          "autosomal recessive osteopetrosis",
          "autosomal recessive osteopetrosis (disease)",
          "infantile malignant osteopetrosis",
          "osteopetrosis (disease), autosomal recessive",
          "malignant osteopetrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019026"
    },
    {
      "id": 19770,
      "label": "autosomal dominant optic atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19769,
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011972",
          "MEDGEN:1647918",
          "MESH:D029241",
          "NCIT:C84577",
          "Orphanet:98672",
          "SCTID:2065009",
          "UMLS:C4551508"
        ],
        "synonyms": [
          "ADOA",
          "DOA",
          "optic atrophy, autosomal dominant",
          "dominant optic atrophy"
        ],
        "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 autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss."
      },
      "child_count": 18,
      "reference_id": "MONDO:0020250"
    },
    {
      "id": 24873,
      "label": "OPA1-related optic atrophy with or without extraocular features",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908,
        19769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026472"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800181"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    }
  ]
}