{
  "id": 18914,
  "label": "Leber congenital amaurosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018998",
  "properties": {
    "xrefs": [
      "DOID:14791",
      "GARD:0000634",
      "MEDGEN:137922",
      "MESH:D057130",
      "MedDRA:10070667",
      "NCIT:C129075",
      "NORD:1351",
      "OMIMPS:204000",
      "Orphanet:65",
      "SCTID:193413001",
      "UMLS:C0339527",
      "icd11.foundation:650490256"
    ],
    "synonyms": [
      "Leber congenital amaurosis",
      "amaurosis congenita of Leber",
      "Leber's congenital tapetoretinal degeneration",
      "Leber's congenital tapetoretinal dysplasia",
      "congenital absence of the rods and cones",
      "congenital retinal blindness"
    ],
    "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": "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 21,
  "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": 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": 9671,
      "label": "retinal aplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015109",
          "MEDGEN:356752",
          "MESH:C566720",
          "OMIM:179900",
          "UMLS:C1867331"
        ],
        "synonyms": [
          "retinal aplasia",
          "amaurosis congenita"
        ],
        "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:0008372"
    },
    {
      "id": 10036,
      "label": "Leber congenital amaurosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        24180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110078",
          "GARD:0000635",
          "MEDGEN:419026",
          "OMIM:204000",
          "UMLS:C2931258"
        ],
        "synonyms": [
          "GUCY2D Leber congenital amaurosis",
          "LCA1",
          "Leber congenital amaurosis 1",
          "Leber congenital amaurosis caused by mutation in GUCY2D",
          "Leber congenital amaurosis type 1",
          "CRB",
          "LCA",
          "amaurosis congenita of Leber 1",
          "amaurosis congenita of Leber, type 1",
          "retinal blindness, congenital"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008764"
    },
    {
      "id": 10037,
      "label": "Leber congenital amaurosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        24096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110016",
          "GARD:0000636",
          "MEDGEN:348473",
          "MESH:C536601",
          "OMIM:204100",
          "UMLS:C1859844"
        ],
        "synonyms": [
          "LCA2",
          "Leber congenital amaurosis 2",
          "Leber congenital amaurosis caused by mutation in RPE65",
          "Leber congenital amaurosis type 2",
          "RPE65 Leber congenital amaurosis",
          "amaurosis congenita of Leber 2",
          "amaurosis congenita of Leber, type 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": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008765"
    },
    {
      "id": 12520,
      "label": "Leber congenital amaurosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        29292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110331",
          "GARD:0009661",
          "MEDGEN:346964",
          "MESH:C565814",
          "OMIM:604232",
          "UMLS:C1858677"
        ],
        "synonyms": [
          "LCA3",
          "Leber congenital amaurosis 3",
          "Leber congenital amaurosis caused by mutation in SPATA7",
          "Leber congenital amaurosis type 3",
          "SPATA7 Leber congenital amaurosis",
          "retinitis pigmentosa, juvenile, autosomal recessive",
          "amaurosis congenita of Leber, type 3",
          "retinitis pigmentosa, juvenile, Spata7-related"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011415"
    },
    {
      "id": 12562,
      "label": "Leber congenital amaurosis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        18914,
        24165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110332",
          "GARD:0009662",
          "MEDGEN:346808",
          "MESH:C565778",
          "OMIM:604393",
          "UMLS:C1858386"
        ],
        "synonyms": [
          "cone-rod dystrophy",
          "AIPL1 Leber congenital amaurosis",
          "LCA4",
          "Leber congenital amaurosis 4",
          "Leber congenital amaurosis caused by mutation in AIPL1",
          "Leber congenital amaurosis type 4",
          "amaurosis congenita of Leber, type 4",
          "cone-rod dystrophy, Aipl1-related",
          "retinitis pigmentosa, juvenile",
          "retinitis pigmentosa, juvenile, Aipl1-related"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011458"
    },
    {
      "id": 12575,
      "label": "Leber congenital amaurosis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        24172
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110215",
          "GARD:0009983",
          "MEDGEN:388031",
          "MESH:C536602",
          "OMIM:604537",
          "UMLS:C1858301"
        ],
        "synonyms": [
          "LCA5",
          "LCA5 Leber congenital amaurosis",
          "Leber congenital amaurosis 5",
          "Leber congenital amaurosis caused by mutation in LCA5",
          "Leber congenital amaurosis type 5",
          "amaurosis congenita of Leber, type 5"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011473"
    },
    {
      "id": 13124,
      "label": "Leber congenital amaurosis 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        24811
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110005",
          "GARD:0009491",
          "MEDGEN:325277",
          "MESH:C536603",
          "OMIM:608553",
          "UMLS:C1837873"
        ],
        "synonyms": [
          "LCA9",
          "Leber congenital amaurosis 9",
          "Leber congenital amaurosis caused by mutation in NMNAT1",
          "Leber congenital amaurosis type 9",
          "NMNAT1 Leber congenital amaurosis",
          "amaurosis congenita of Leber, type 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 Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012056"
    },
    {
      "id": 13573,
      "label": "Leber congenital amaurosis 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        24630
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110080",
          "GARD:0010489",
          "MEDGEN:347535",
          "MESH:C565697",
          "OMIM:610612",
          "UMLS:C1857743"
        ],
        "synonyms": [
          "LCA12",
          "Leber congenital amaurosis 12",
          "Leber congenital amaurosis caused by mutation in RD3",
          "Leber congenital amaurosis type 12",
          "RD3 Leber congenital amaurosis",
          "amaurosis congenita of Leber, type 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 Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012525"
    },
    {
      "id": 13763,
      "label": "Leber congenital amaurosis 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        20852,
        24178
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110291",
          "GARD:0010487",
          "MEDGEN:346672",
          "MESH:C565720",
          "OMIM:611755",
          "UMLS:C1857821"
        ],
        "synonyms": [
          "CEP290 Leber congenital amaurosis",
          "LCA10",
          "Leber congenital amaurosis 10",
          "Leber congenital amaurosis caused by mutation in CEP290",
          "Leber congenital amaurosis type 10",
          "amaurosis congenita of Leber, type 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"
          }
        ],
        "definition": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012723"
    },
    {
      "id": 14030,
      "label": "Leber congenital amaurosis 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        24809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110330",
          "GARD:0010882",
          "MEDGEN:382544",
          "MESH:C567197",
          "OMIM:612712",
          "UMLS:C2675186"
        ],
        "synonyms": [
          "LCA13",
          "Leber congenital amaurosis 13",
          "Leber congenital amaurosis caused by mutation in RDH12",
          "Leber congenital amaurosis type 13",
          "RDH12 Leber congenital amaurosis",
          "retinitis pigmentosa 53"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012990"
    },
    {
      "id": 14267,
      "label": "Leber congenital amaurosis 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110188",
          "GARD:0010883",
          "MEDGEN:442375",
          "MESH:C567636",
          "OMIM:613341",
          "UMLS:C2750063"
        ],
        "synonyms": [
          "LCA14",
          "LRAT Leber congenital amaurosis",
          "Leber congenital amaurosis 14",
          "Leber congenital amaurosis caused by mutation in LRAT",
          "Leber congenital amaurosis type 14",
          "retinal dystrophy, early-onset severe",
          "retinal dystrophy, early-onset Severe, LRAT-related",
          "retinitis pigmentosa, juvenile",
          "retinitis pigmentosa, juvenile, LRAT-related"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013231"
    },
    {
      "id": 14478,
      "label": "Leber congenital amaurosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110329",
          "GARD:0010490",
          "HGNC:13436",
          "MEDGEN:344245",
          "MESH:C565327",
          "OMIM:613826",
          "UMLS:C1854260"
        ],
        "synonyms": [
          "LCA6",
          "Leber congenital amaurosis 6",
          "Leber congenital amaurosis caused by mutation in RPGRIP1",
          "Leber congenital amaurosis type 6",
          "RPGRIP1 Leber congenital amaurosis"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013446"
    },
    {
      "id": 14481,
      "label": "Leber congenital amaurosis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        29288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110333",
          "GARD:0010880",
          "MEDGEN:462542",
          "OMIM:613829",
          "UMLS:C3151192"
        ],
        "synonyms": [
          "CRX Leber congenital amaurosis",
          "LCA7",
          "Leber congenital amaurosis 7",
          "Leber congenital amaurosis caused by mutation in CRX",
          "Leber congenital amaurosis type 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 Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013449"
    },
    {
      "id": 14484,
      "label": "Leber congenital amaurosis 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110079",
          "GARD:0010881",
          "MEDGEN:462552",
          "OMIM:613835",
          "UMLS:C3151202"
        ],
        "synonyms": [
          "CRB1 Leber congenital amaurosis",
          "LCA8",
          "Leber congenital amaurosis 8",
          "Leber congenital amaurosis caused by mutation in CRB1",
          "Leber congenital amaurosis type 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 Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013453"
    },
    {
      "id": 14485,
      "label": "Leber congenital amaurosis 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        29281
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110216",
          "GARD:0010488",
          "HGNC:6052",
          "MEDGEN:326698",
          "MESH:C564140",
          "OMIM:613837",
          "UMLS:C1840284"
        ],
        "synonyms": [
          "IMPDH1 Leber congenital amaurosis",
          "LCA11",
          "Leber congenital amaurosis 11",
          "Leber congenital amaurosis caused by mutation in IMPDH1",
          "Leber congenital amaurosis type 11",
          "amaurosis congenita of Leber, type 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 Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013454"
    },
    {
      "id": 14488,
      "label": "Leber congenital amaurosis 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110189",
          "GARD:0010884",
          "MEDGEN:462556",
          "OMIM:613843",
          "UMLS:C3151206"
        ],
        "synonyms": [
          "LCA15",
          "Leber congenital amaurosis 15",
          "Leber congenital amaurosis caused by mutation in TULP1",
          "Leber congenital amaurosis type 15",
          "TULP1 Leber congenital amaurosis",
          "retinitis pigmentosa, juvenile, Tulp1-related"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013457"
    },
    {
      "id": 14639,
      "label": "Leber congenital amaurosis 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110118",
          "GARD:0010885",
          "MEDGEN:481692",
          "OMIM:614186",
          "UMLS:C3280062"
        ],
        "synonyms": [
          "KCNJ13 Leber congenital amaurosis",
          "LCA16",
          "Leber congenital amaurosis 16",
          "Leber congenital amaurosis caused by mutation in KCNJ13",
          "Leber congenital amaurosis type 16"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013613"
    },
    {
      "id": 15152,
      "label": "Leber congenital amaurosis 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110217",
          "GARD:0015950",
          "MEDGEN:811616",
          "OMIM:615360",
          "UMLS:C3715164"
        ],
        "synonyms": [
          "GDF6 Leber congenital amaurosis",
          "LCA17",
          "Leber congenital amaurosis 17",
          "Leber congenital amaurosis caused by mutation in GDF6",
          "Leber congenital amaurosis type 17"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014145"
    },
    {
      "id": 22451,
      "label": "Leber congenital amaurosis 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081169",
          "GARD:0016359",
          "MEDGEN:1679297",
          "OMIM:618513",
          "UMLS:C5193139"
        ],
        "synonyms": [
          "LCA19"
        ],
        "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:0032794"
    },
    {
      "id": 23719,
      "label": "Leber congenital amaurosis with early-onset deafness",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        20852,
        29300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112240",
          "GARD:0026002",
          "MEDGEN:1646810",
          "OMIM:617879",
          "UMLS:C4693498"
        ],
        "synonyms": [
          "Leber congenital amaurosis with early-onset deafness",
          "LCAEOD"
        ],
        "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:0060650"
    },
    {
      "id": 29318,
      "label": "Leber congenital amaurosis 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        29285
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028162",
          "MEDGEN:861539",
          "UMLS:C4013102"
        ],
        "synonyms": [
          "LCA18"
        ],
        "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 Leber congenital amaurosis that is caused by a variation in the PRPH2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060145"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}