{
  "id": 19131,
  "label": "erythrokeratoderma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019270",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 19129,
      "label": "epidermal disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842776",
          "Orphanet:79353",
          "UMLS:C5681492"
        ],
        "synonyms": [
          "epidermal disease",
          "rare epidermal disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A skin disease that involves the epidermis."
      },
      "child_count": 25,
      "reference_id": "MONDO:0019268"
    }
  ],
  "children": [
    {
      "id": 8952,
      "label": "spinocerebellar ataxia type 34",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19131,
        19535,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050981",
          "GARD:0000059",
          "MEDGEN:338703",
          "MESH:C535738",
          "NORD:1105",
          "OMIM:133190",
          "Orphanet:1955",
          "SCTID:719255000",
          "UMLS:C1851481"
        ],
        "synonyms": [
          "Erythrokeratodermia with Ataxia",
          "SCA34",
          "erythrokeratodermia with ataxia",
          "spinocerebellar ataxia and erythrokeratodermia",
          "spinocerebellar ataxia type 34",
          "Giroux Barbeau syndrome",
          "erythrokeratodermia - ataxia",
          "spinocerebellar ataxia 34"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007574"
    },
    {
      "id": 13310,
      "label": "MEDNIK syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        17987,
        19131,
        23867
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012251"
    },
    {
      "id": 15357,
      "label": "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19131,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016014",
          "MEDGEN:862830",
          "OMIM:615821",
          "Orphanet:476096",
          "UMLS:C4014393"
        ],
        "synonyms": [
          "EKC syndrome",
          "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis",
          "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis",
          "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis",
          "erythrokeratodermia-cardiomyopathy syndrome",
          "DCWHKTA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014355"
    },
    {
      "id": 18054,
      "label": "erythrokeratoderma en cocardes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19131
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001722",
          "ICD9:447.8",
          "MEDGEN:1845700",
          "Orphanet:315",
          "SCTID:239062001",
          "UMLS:C5848050"
        ],
        "synonyms": [
          "Degos genodermatosis",
          "Degos genodermatosis \"en cocardes\"",
          "Degos 'en cocarde' erythrokeratoderma",
          "Degos genodermatosis 'en cocardes'",
          "erythrokeratoderma \"en cocardes\"",
          "erythrokeratoderma ''en cocardes''",
          "erythrokeratoderma 'en cocardes'"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterized by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017836"
    },
    {
      "id": 18067,
      "label": "erythrokeratodermia variabilis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17917,
        19131
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050467",
          "GARD:0016528",
          "MEDGEN:75587",
          "MESH:C536154",
          "MESH:D056266",
          "MedDRA:10049048",
          "NCIT:C84696",
          "NORD:1285",
          "OMIMPS:133200",
          "Orphanet:308166",
          "Orphanet:316",
          "Orphanet:317",
          "SCTID:70041004",
          "UMLS:C0265961",
          "icd11.foundation:551200965"
        ],
        "synonyms": [
          "Darier-Gottron disease",
          "EKV",
          "Ichthyosis, Erythrokeratodermia Variabilis",
          "erythrokeratodermia progressiva symmetrica",
          "erythrokeratodermia variabilis",
          "erythrokeratodermia variabilis, Mendes da Costa type",
          "progressive symmetric erythrokeratodermia",
          "progressive symmetric erythrokeratodermia, Gottron type",
          "EKVP",
          "erythrokeratodermia figurata, congenital familial, in plaques",
          "erythrokeratodermia variabilis ET progressiva",
          "erythrokeratodermia variabilis with erythema Gyratum Repens",
          "erythrokeratodermia variabilis with erythema gyratum repens",
          "erythrokeratodermia, progressive symmetric",
          "keratoderma palmoplantaris transgrediens",
          "keratosis extremitatum hereditaria progrediens",
          "keratosis palmoplantaris transgrediens et progrediens"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017851"
    },
    {
      "id": 23775,
      "label": "pityriasis rubra pilaris",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19131
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9212",
          "GARD:0007401",
          "ICD10CM:L44.0",
          "ICD9:696.4",
          "MEDGEN:45939",
          "MESH:D010916",
          "NCIT:C85014",
          "NORD:1582",
          "SCTID:3755001",
          "UMLS:C0032027",
          "icd11.foundation:2048594962"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP)."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100017"
    }
  ],
  "roots": [
    {
      "id": 19129,
      "label": "epidermal disease"
    }
  ]
}