{
  "id": 24811,
  "label": "NMNAT1-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800101",
  "properties": {
    "xrefs": [
      "GARD:0026434"
    ],
    "synonyms": [
      "NMNAT1-related retinopathy",
      "LCA9",
      "Leber congenital amaurosis 9",
      "Leber congenital amaurosis caused by mutation in NMNAT1",
      "Leber congenital amaurosis type 9",
      "NMNAT1 Leber congenital amaurosis",
      "SHILCA",
      "SHILCA Syndrome",
      "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and 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": "A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 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": 22191,
      "label": "spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        24811
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112290",
          "GARD:0018025",
          "MEDGEN:1780157",
          "OMIM:619260",
          "Orphanet:611207",
          "UMLS:C5543257"
        ],
        "synonyms": [
          "SHILCA",
          "SHILCA 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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031007"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}