{
  "id": 13578,
  "label": "palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012530",
  "properties": {
    "xrefs": [
      "GARD:0016733",
      "MEDGEN:461281",
      "MESH:C567165",
      "OMIM:610644",
      "Orphanet:85112",
      "UMLS:C3149931"
    ],
    "synonyms": [
      "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal",
      "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome",
      "palmoplantar hyperkeratosis and true hermaphroditism",
      "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 17857,
      "label": "46,XX disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018783",
          "MEDGEN:424728",
          "MESH:D058489",
          "NCIT:C127169",
          "Orphanet:2982",
          "SCTID:8800006",
          "UMLS:C2936403"
        ],
        "synonyms": [
          "46,XX DSD",
          "46,XX differences of Sex development",
          "46,XX disorders of Sex development",
          "female pseudohermaphroditism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017576"
    },
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19132
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021289",
          "HP:0007435",
          "ICD9:757.39",
          "MEDGEN:7201",
          "Orphanet:307141",
          "SCTID:400123002",
          "UMLS:C0022584",
          "icd11.foundation:1259583500"
        ],
        "synonyms": [
          "diffuse PPK",
          "diffuse keratosis palmoplantaris",
          "diffuse palmoplantar hyperkeratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality."
      },
      "child_count": 32,
      "reference_id": "MONDO:0017666"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17857,
      "label": "46,XX disorder of sex development"
    },
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma"
    }
  ]
}