{
  "id": 13310,
  "label": "MEDNIK syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012251",
  "properties": {
    "xrefs": [
      "DOID:0060483",
      "GARD:0017072",
      "MEDGEN:322893",
      "MESH:C563739",
      "OMIM:609313",
      "Orphanet:171851",
      "SCTID:722035007",
      "UMLS:C1836330"
    ],
    "synonyms": [
      "erythrokeratodermia variabilis 3",
      "erythrokeratodermia variabilis, Kamouraska type",
      "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia",
      "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome",
      "MEDNIK",
      "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma",
      "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)."
  },
  "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": 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"
    },
    {
      "id": 19131,
      "label": "erythrokeratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018986",
          "ICD9:757.39",
          "MEDGEN:609461",
          "MedDRA:10015280",
          "Orphanet:79355",
          "SCTID:254215005",
          "UMLS:C0432330"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019270"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17987,
      "label": "disorder of copper metabolism"
    },
    {
      "id": 19131,
      "label": "erythrokeratoderma"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}