{
  "id": 17926,
  "label": "inborn aminoacylase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017686",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "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": 11267,
      "label": "Canavan disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17926,
        18952
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3613",
          "GARD:0005984",
          "MEDGEN:61565",
          "MESH:D017825",
          "MedDRA:10067608",
          "NANDO:1200948",
          "NANDO:2200834",
          "NCIT:C84611",
          "NORD:886",
          "OMIM:271900",
          "Orphanet:141",
          "SCTID:80544005",
          "UMLS:C0206307",
          "icd11.foundation:1576870846"
        ],
        "synonyms": [
          "ACY2 deficiency",
          "Canavan disease",
          "Canavan-VAN Bogaert-Bertrand disease",
          "aminoacylase 2 deficiency",
          "aspartoacylase deficiency",
          "spongy degeneration of central nervous system",
          "spongy degeneration of the brain",
          "Acy2 deficiency",
          "Asp deficiency",
          "Aspa deficiency",
          "Canavan-Van Bogaert-Bertrand disease",
          "Von Bogaert-Bertrand disease",
          "spongy Degeneration of central nervous system",
          "spongy degeneration of the central nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010079"
    },
    {
      "id": 13420,
      "label": "aminoacylase 1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6510,
        17926
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012368"
    }
  ],
  "roots": [
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}