{
  "id": 11006,
  "label": "ornithine aminotransferase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009796",
  "properties": {
    "xrefs": [
      "DOID:1415",
      "GARD:0006556",
      "MEDGEN:6695",
      "MESH:D015799",
      "NANDO:2200484",
      "NANDO:2200486",
      "NCIT:C84744",
      "OMIM:258870",
      "Orphanet:414",
      "UMLS:C0018425"
    ],
    "synonyms": [
      "GACR",
      "HOGA",
      "gyrate atrophy",
      "gyrate atrophy of choroid and retina with or without ornithinemia",
      "hoga",
      "hyperornithinemia",
      "hyperornithinemia-gyrate atrophy of choroid and retina syndrome",
      "ornithine aminotransferase deficiency",
      "Fuchs atrophia gyrata chorioideae et retinae",
      "Fuchs gyrate atrophy",
      "Fuchs gyrate atrophy of the choroid and retina",
      "Girate atrophy of the retina",
      "OAT deficiency",
      "OKT deficiency",
      "Oat deficiency",
      "Okt deficiency",
      "Ornithinemia",
      "gyrate atrophy of choroid and retina",
      "hyperornithinemia with gyrate atrophy of choroid and retina",
      "ornithine Keto acid aminotransferase deficiency",
      "ornithine ketoacid aminotransferase deficiency",
      "ornithine-Delta-aminotransferase deficiency"
    ],
    "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": "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4072,
      "label": "optic choroid disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4712,
        7202
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1417",
          "ICD9:363.8",
          "ICD9:363.9",
          "MEDGEN:892839",
          "MESH:D015862",
          "NCIT:C34468",
          "SCTID:128468007",
          "UMLS:C4025836"
        ],
        "synonyms": [
          "choroid disorder",
          "disease of optic choroid",
          "disease or disorder of optic choroid",
          "disorder of optic choroid",
          "optic choroid disease",
          "optic choroid disease or disorder",
          "choroid disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease involving the optic choroid."
      },
      "child_count": 14,
      "reference_id": "MONDO:0001898"
    },
    {
      "id": 17673,
      "label": "inborn disorder of ornithine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510,
        19094,
        23517
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021158",
          "MEDGEN:575181",
          "Orphanet:289869",
          "SCTID:237928008",
          "UMLS:C0342690",
          "icd11.foundation:1711515805"
        ],
        "synonyms": [
          "disorder of ornithine metabolism",
          "inborn error of ornithine metabolic process",
          "inborn ornithine metabolic process disorder",
          "rare inborn error of ornithine metabolic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017356"
    },
    {
      "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"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        7065
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:857738",
          "NCIT:C117007",
          "UMLS:C3898144"
        ],
        "synonyms": [
          "disease of nervous system vasculature",
          "nervous system disorder of vasculature",
          "neurovascular disorder",
          "vasculature nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the nervous system related to a vascular etiology."
      },
      "child_count": 58,
      "reference_id": "MONDO:0043218"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4072,
      "label": "optic choroid disorder"
    },
    {
      "id": 17673,
      "label": "inborn disorder of ornithine metabolism"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder"
    }
  ]
}