{
  "id": 13420,
  "label": "aminoacylase 1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012368",
  "properties": {
    "xrefs": [
      "EFO:1001981",
      "GARD:0009741",
      "ICD9:270.8",
      "MEDGEN:324393",
      "MESH:C538246",
      "OMIM:609924",
      "Orphanet:137754",
      "SCTID:709282004",
      "UMLS:C1835922"
    ],
    "synonyms": [
      "ACY1D",
      "N-acyl-L-amino acid amidohydrolase deficiency",
      "aminoacylase 1 deficiency",
      "neurological conditions associated with aminoacylase 1 deficiency",
      "ACY1 deficiency",
      "deficiency of the aminoacylase-1 enzyme"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6510,
      "label": "inborn disorder of amino acid metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19059,
        22986
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9252",
          "GARD:0006770",
          "ICD9:270",
          "ICD9:270.9",
          "MEDGEN:1857273",
          "MESH:D000592",
          "NCIT:C97090",
          "SCTID:42930003",
          "UMLS:C5886841"
        ],
        "synonyms": [
          "inborn cellular amino acid metabolic process disorder",
          "inborn error of amino acid metabolism",
          "inborn error of cellular amino acid metabolic process",
          "inherited amino acid metabolic disorder",
          "rare inborn error of cellular amino acid metabolic process",
          "amino acid metabolic disorder",
          "amino acid metabolism, inborn errors",
          "inborn amino acid metabolism disorder"
        ],
        "definition": "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria."
      },
      "child_count": 66,
      "reference_id": "MONDO:0004736"
    },
    {
      "id": 17926,
      "label": "inborn aminoacylase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021304",
          "MEDGEN:1842952",
          "Orphanet:308448",
          "UMLS:C5681074"
        ],
        "synonyms": [
          "inborn aminoacylase activity disorder",
          "inborn error of aminoacylase activity",
          "rare inborn error of aminoacylase activity",
          "aminoacylase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017686"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6510,
      "label": "inborn disorder of amino acid metabolism"
    },
    {
      "id": 17926,
      "label": "inborn aminoacylase deficiency"
    }
  ]
}