{
  "id": 13165,
  "label": "AICA-ribosiduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012099",
  "properties": {
    "xrefs": [
      "GARD:0013781",
      "MEDGEN:332474",
      "MESH:C563876",
      "OMIM:608688",
      "Orphanet:250977",
      "SCTID:725289009",
      "UMLS:C1837530"
    ],
    "synonyms": [
      "5-amino-4-imidazole carboxamide ribosiduria",
      "AICA-ribosiduria due to ATIC deficiency",
      "ATIC deficiency",
      "AICAR transformylase/IMP cyclohydrolase deficiency",
      "Aica-Ribosuria due to Atic deficiency",
      "Atic deficiency"
    ],
    "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": "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 19100,
      "label": "inborn disorder of purine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19115,
        22982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018965",
          "MedDRA:10061476",
          "Orphanet:79191",
          "icd11.foundation:1958565793"
        ],
        "synonyms": [
          "inborn error of purine nucleobase metabolic process",
          "inborn purine nucleobase metabolic process disorder",
          "rare inborn error of purine nucleobase metabolic process",
          "disorder of purine metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process."
      },
      "child_count": 32,
      "reference_id": "MONDO:0019236"
    },
    {
      "id": 19765,
      "label": "hereditary macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025154",
          "MEDGEN:137919",
          "NANDO:1200931",
          "NCIT:C140264",
          "Orphanet:98664",
          "SCTID:276436007",
          "UMLS:C0339508"
        ],
        "synonyms": [
          "genetic macular dystrophy",
          "genetic macular dystrophy (disease)"
        ],
        "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": "Macular dystrophy that is related to a change in a gene."
      },
      "child_count": 17,
      "reference_id": "MONDO:0020242"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 19100,
      "label": "inborn disorder of purine metabolism"
    },
    {
      "id": 19765,
      "label": "hereditary macular dystrophy"
    }
  ]
}