{
  "id": 10879,
  "label": "biotinidase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009665",
  "properties": {
    "xrefs": [
      "DOID:856",
      "GARD:0000894",
      "ICD10CM:D81.810",
      "ICD9:277.6",
      "MEDGEN:66323",
      "MESH:D028921",
      "MedDRA:10071434",
      "NANDO:1200822",
      "NCIT:C84598",
      "NORD:857",
      "OMIM:253260",
      "Orphanet:79241",
      "SCTID:8808004",
      "UMLS:C0220754"
    ],
    "synonyms": [
      "BTD deficiency",
      "biotinidase deficiency",
      "juvenile-onset multiple carboxylase deficiency",
      "late-onset multiple carboxylase deficiency",
      "biotin deficiency",
      "late-onset biotin-responsive multiple carboxylase deficiency",
      "multiple carboxylase deficiency, juvenile-onset",
      "multiple carboxylase deficiency, late-onset"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16297,
      "label": "multiple carboxylase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082,
        19083,
        20106
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:857",
          "GARD:0003824",
          "ICD10CM:D81.81",
          "ICD10CM:D81.819",
          "MEDGEN:10119",
          "MESH:D009100",
          "MedDRA:10028176",
          "NANDO:1200820",
          "NANDO:2200500",
          "Orphanet:148",
          "UMLS:C0026755",
          "icd11.foundation:1133091451"
        ],
        "synonyms": [
          "MCD",
          "multiple carboxylase deficiency"
        ],
        "definition": "Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015454"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16297,
      "label": "multiple carboxylase deficiency"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}