{
  "id": 16849,
  "label": "congenital stationary night blindness",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016293",
  "properties": {
    "xrefs": [
      "DOID:0050534",
      "DOID:8498",
      "GARD:0025068",
      "ICD9:368.61",
      "MEDGEN:83289",
      "MESH:C536122",
      "OMIMPS:310500",
      "Orphanet:215",
      "SCTID:193687000",
      "SCTID:232061009",
      "UMLS:C0339535",
      "icd11.foundation:122338861",
      "icd11.foundation:587494652"
    ],
    "synonyms": [
      "Oguchi's disease",
      "congenital essential nyctalopia",
      "congenital night blindness",
      "hereditary night blindness",
      "night blindness, congenital stationary"
    ],
    "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": 14,
  "parents": [
    {
      "id": 6383,
      "label": "night blindness",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4110,
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8499",
          "ICD10CM:H53.6",
          "ICD9:368.6",
          "ICD9:368.60",
          "ICD9:368.69",
          "MEDGEN:10349",
          "MESH:D009755",
          "NCIT:C34850",
          "SCTID:65194006",
          "UMLS:C0028077",
          "icd11.foundation:205882698"
        ],
        "synonyms": [
          "nyctalopia"
        ],
        "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": "Inability to see clearly in dim light."
      },
      "child_count": 6,
      "reference_id": "MONDO:0004588"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9417,
      "label": "congenital stationary night blindness autosomal dominant 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110863",
          "GARD:0015096",
          "MEDGEN:361814",
          "MESH:C566869",
          "OMIM:163500",
          "UMLS:C1876182"
        ],
        "synonyms": [
          "CSNBAD2",
          "PDE6B congenital stationary night blindness",
          "congenital stationary night blindness autosomal dominant type 2",
          "congenital stationary night blindness caused by mutation in PDE6B",
          "night blindness, congenital stationary, autosomal dominant type 2",
          "night blindness, congenital stationary, Rambusch type",
          "night blindness, congenital stationary, autosomal dominant 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 congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008099"
    },
    {
      "id": 10968,
      "label": "congenital stationary night blindness 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16849,
        24986
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110865",
          "GARD:0015212",
          "MEDGEN:342484",
          "OMIM:257270",
          "UMLS:C1850362"
        ],
        "synonyms": [
          "CSNB1B",
          "GRM6 congenital stationary night blindness",
          "congenital stationary night blindness 1B",
          "congenital stationary night blindness caused by mutation in GRM6",
          "congenital stationary night blindness type 1B",
          "night blindness, congenital stationary (complete), 1B, autosomal recessive",
          "CSNB, complete, autosomal recessive",
          "night blindness, congenital stationary, complete, autosomal recessive",
          "night blindness, congenital stationary, type 1B"
        ],
        "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 congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009758"
    },
    {
      "id": 13539,
      "label": "cone-rod synaptic disorder, congenital nonprogressive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015485",
          "MEDGEN:874422",
          "OMIM:610427",
          "UMLS:C4041558"
        ],
        "synonyms": [
          "cone-rod synaptic disorder, congenital nonprogressive",
          "CRSD",
          "night blindness, congenital stationary, incomplete, autosomal recessive",
          "night blindness, congenital stationary, incomplete, autosomal recessive, formerly",
          "night blindness, congenital stationary, type 2B",
          "night blindness, congenital stationary, type 2B, formerly"
        ],
        "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:0012490"
    },
    {
      "id": 13546,
      "label": "congenital stationary night blindness autosomal dominant 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        4427,
        16849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110715",
          "GARD:0015487",
          "MEDGEN:355313",
          "MESH:C566475",
          "OMIM:610444",
          "UMLS:C1864870"
        ],
        "synonyms": [
          "CSNBAD3",
          "congenital stationary night blindness autosomal dominant type 3",
          "night blindness, congenital stationary, autosomal dominant type 3",
          "night blindness, congenital stationary, Nougaret type",
          "night blindness, congenital stationary, autosomal dominant 3"
        ],
        "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 congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012497"
    },
    {
      "id": 13547,
      "label": "congenital stationary night blindness autosomal dominant 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16849,
        24753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110862",
          "GARD:0015488",
          "MEDGEN:355852",
          "MESH:C566474",
          "OMIM:610445",
          "UMLS:C1864869"
        ],
        "synonyms": [
          "CSNBAD1",
          "RHO congenital stationary night blindness",
          "congenital stationary night blindness autosomal dominant type 1",
          "congenital stationary night blindness caused by mutation in RHO",
          "night blindness, congenital stationary, autosomal dominant type 1",
          "night blindness, congenital stationary, autosomal dominant 1",
          "night blindness, congenital stationary, rhodopsin-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 congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012498"
    },
    {
      "id": 14219,
      "label": "congenital stationary night blindness 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16849,
        24991
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110867",
          "GARD:0015631",
          "MEDGEN:416373",
          "MESH:C567704",
          "OMIM:613216",
          "UMLS:C2750747"
        ],
        "synonyms": [
          "CSNB1C",
          "TRPM1 congenital stationary night blindness",
          "congenital stationary night blindness 1C",
          "congenital stationary night blindness caused by mutation in TRPM1",
          "congenital stationary night blindness type 1C",
          "night blindness, congenital stationary (complete), 1C, autosomal recessive",
          "CSNB, complete, autosomal recessive",
          "night blindness, congenital stationary, type 1C"
        ],
        "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 congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013183"
    },
    {
      "id": 14482,
      "label": "congenital stationary night blindness 1D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110868",
          "GARD:0015721",
          "MEDGEN:462543",
          "OMIM:613830",
          "UMLS:C3151193"
        ],
        "synonyms": [
          "CSNB1D",
          "SLC24A1 congenital stationary night blindness",
          "congenital stationary night blindness 1D",
          "congenital stationary night blindness caused by mutation in SLC24A1",
          "congenital stationary night blindness type 1D",
          "night blindness, congenital stationary (complete), 1D, autosomal recessive",
          "Csnb, complete, autosomal recessive",
          "night blindness, congenital stationary, type 1D"
        ],
        "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 congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013450"
    },
    {
      "id": 14823,
      "label": "congenital stationary night blindness 1E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16849,
        24985
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110869",
          "GARD:0015816",
          "MEDGEN:482845",
          "OMIM:614565",
          "UMLS:C3281215"
        ],
        "synonyms": [
          "CSNB1E",
          "GPR179 congenital stationary night blindness",
          "congenital stationary night blindness 1E",
          "congenital stationary night blindness caused by mutation in GPR179",
          "congenital stationary night blindness type 1E",
          "night blindness, congenital stationary (complete), 1E, autosomal recessive",
          "Csnb, complete, autosomal recessive",
          "night blindness, congenital stationary, type 1E"
        ],
        "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 congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013807"
    },
    {
      "id": 15036,
      "label": "congenital stationary night blindness 1F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16849,
        29265
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110864",
          "GARD:0015899",
          "MEDGEN:767313",
          "OMIM:615058",
          "UMLS:C3554399"
        ],
        "synonyms": [
          "CSNB1F",
          "LRIT3 congenital stationary night blindness",
          "congenital stationary night blindness caused by mutation in LRIT3",
          "congenital stationary night blindness type 1F",
          "night blindness, congenital stationary (complete), 1F, autosomal recessive",
          "night blindness, congenital stationary, type 1F"
        ],
        "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 congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014026"
    },
    {
      "id": 15611,
      "label": "congenital stationary night blindness 1G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        7611,
        16849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110714",
          "GARD:0016099",
          "MEDGEN:906532",
          "OMIM:616389",
          "UMLS:C4225345"
        ],
        "synonyms": [
          "CSNB1G",
          "congenital stationary night blindness type 1G",
          "night blindness, congenital stationary, type 1G"
        ],
        "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 congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014614"
    },
    {
      "id": 15854,
      "label": "congenital stationary night blindness 1H",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110866",
          "GARD:0016177",
          "MEDGEN:934725",
          "OMIM:617024",
          "UMLS:C4310758"
        ],
        "synonyms": [
          "CSNB1H",
          "GNB3 congenital stationary night blindness",
          "congenital stationary night blindness caused by mutation in GNB3",
          "congenital stationary night blindness type 1H",
          "night blindness, congenital stationary, type 1H"
        ],
        "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 congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014872"
    },
    {
      "id": 19029,
      "label": "Oguchi disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16849,
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010118",
          "MEDGEN:224927",
          "MESH:C537743",
          "Orphanet:75382",
          "UMLS:C1306122",
          "icd11.foundation:1759055065"
        ],
        "synonyms": [
          "Oguchi disease",
          "Oguchi syndrome",
          "congenital stationary night blindness, Oguchi type",
          "stationary night blindness, Oguchi 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"
          }
        ],
        "definition": "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019152"
    },
    {
      "id": 22468,
      "label": "night blindness, congenital stationary, type1i",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16849,
        24180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016364",
          "MEDGEN:1684817",
          "OMIM:618555",
          "UMLS:C5231408"
        ],
        "synonyms": [
          "CSNB1I",
          "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I",
          "night blindness, congenital stationary, type 1I"
        ],
        "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:0032811"
    },
    {
      "id": 23422,
      "label": "X-linked congenital stationary night blindness",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        4427,
        16849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003995"
        ],
        "synonyms": [
          "X-linked CSNB",
          "XLCSNB",
          "congenital stationary night blindness, 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"
          }
        ],
        "definition": "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause."
      },
      "child_count": 6,
      "reference_id": "MONDO:0044749"
    }
  ],
  "roots": [
    {
      "id": 6383,
      "label": "night blindness"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}