{
  "id": 9382,
  "label": "Naegeli-Franceschetti-Jadassohn syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008059",
  "properties": {
    "xrefs": [
      "DOID:0111528",
      "GARD:0003912",
      "MEDGEN:91010",
      "MESH:C538331",
      "OMIM:161000",
      "Orphanet:69087",
      "SCTID:239084001",
      "UMLS:C0343111",
      "icd11.foundation:352035640"
    ],
    "synonyms": [
      "NFJ syndrome",
      "Naegeli syndrome",
      "Naegeli-Franceschetti-Jadassohn syndrome",
      "NAEGELI syndrome",
      "NAEGELI-Franceschetti-Jadassohn syndrome",
      "NFJS",
      "Nfj syndrome",
      "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    },
    {
      "id": 19140,
      "label": "hyperpigmentation of the skin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0000953",
          "ICD9:709.09",
          "MEDGEN:57992",
          "Orphanet:79375",
          "SCTID:49765009",
          "UMLS:C0162834"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0019289"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17917,
      "label": "diffuse palmoplantar keratoderma"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 19140,
      "label": "hyperpigmentation of the skin"
    }
  ]
}