{
  "id": 10389,
  "label": "Schöpf-Schulz-Passarge syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009145",
  "properties": {
    "xrefs": [
      "DOID:0111647",
      "GARD:0016649",
      "ICD9:758.89",
      "MEDGEN:347366",
      "MESH:C565607",
      "OMIM:224750",
      "Orphanet:50944",
      "SCTID:700062000",
      "UMLS:C1857069"
    ],
    "synonyms": [
      "SSPS",
      "eccrine tumors-ectodermal dysplasia",
      "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome",
      "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome",
      "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome",
      "SCHOPF-Schulz-Passarge syndrome",
      "SChöPF-Schulz-Passarge syndrome",
      "eccrine tumors with ectodermal dysplasia",
      "eccrine tumours with ectodermal dysplasia",
      "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy."
  },
  "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": 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"
    },
    {
      "id": 24086,
      "label": "ectodermal dysplasia WNT10A related",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026153"
        ],
        "synonyms": [
          "ectodermal dysplasia WNT10A related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0100358"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma"
    },
    {
      "id": 24086,
      "label": "ectodermal dysplasia WNT10A related"
    }
  ]
}