{
  "id": 11797,
  "label": "Menkes disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010651",
  "properties": {
    "xrefs": [
      "DOID:1838",
      "GARD:0001521",
      "ICD9:759.89",
      "MEDGEN:44030",
      "MESH:D007706",
      "MedDRA:10027294",
      "NANDO:1200653",
      "NANDO:2200580",
      "NCIT:C75486",
      "NORD:1440",
      "OMIM:309400",
      "Orphanet:565",
      "SCTID:59178007",
      "UMLS:C0022716",
      "icd11.foundation:986728180"
    ],
    "synonyms": [
      "copper transport disease",
      "MD",
      "MNK",
      "Menkes disease",
      "Menkes kinky hair syndrome",
      "Menkes kinky-hair syndrome",
      "Menkes syndrome",
      "Mk",
      "Trichopoliodystrophy",
      "X-linked copper deficiency",
      "kinky hair disease",
      "kinky hair syndrome",
      "menkes disease, X-linked recessive",
      "steely hair disease",
      "Menkea syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:896",
          "GARD:0024088",
          "MEDGEN:6325",
          "MESH:D008664",
          "UMLS:C0025534"
        ],
        "synonyms": [
          "metal metabolism disorder",
          "metal metabolism, inborn error"
        ],
        "definition": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004689"
    },
    {
      "id": 17987,
      "label": "disorder of copper metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17986
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021354",
          "ICD9:275.1",
          "MEDGEN:507647",
          "MedDRA:10061091",
          "Orphanet:309839",
          "SCTID:79886009",
          "UMLS:C0012714",
          "icd11.foundation:1926278296"
        ],
        "synonyms": [
          "inborn cellular copper ion homeostasis disorder",
          "inborn error of cellular copper ion homeostasis",
          "rare inborn error of cellular copper ion homeostasis",
          "copper Transport disorders"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017762"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder"
    },
    {
      "id": 17987,
      "label": "disorder of copper metabolism"
    }
  ]
}