{
  "id": 11777,
  "label": "incontinentia pigmenti",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010631",
  "properties": {
    "xrefs": [
      "DOID:12305",
      "GARD:0006778",
      "ICD10CM:Q82.3",
      "MEDGEN:7049",
      "MESH:D007184",
      "NANDO:2200974",
      "NCIT:C84787",
      "NORD:1300",
      "OMIM:308300",
      "Orphanet:464",
      "SCTID:367520004",
      "UMLS:C0021171",
      "Wikipedia:Incongenita_pigmenti",
      "icd11.foundation:1542530268"
    ],
    "synonyms": [
      "Bloch-Siemens syndrome",
      "Bloch-Sulzberger syndrome",
      "Incontinentia pigmenti syndrome",
      "incontinentia pigmenti",
      "incontinentia pigmenti, X-linked dominant",
      "IP",
      "IP2 (formerly)",
      "Incontinentia pigmenti type 2 (formerly)",
      "Incontinentia pigmenti, familial Male-lethal type",
      "Incontinentia pigmenti, type II",
      "Incontinentia pigmenti, type II, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19767,
      "label": "congenital vitreoretinal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025155",
          "ICD9:743.56",
          "MEDGEN:757909",
          "Orphanet:98669",
          "SCTID:449866003",
          "UMLS:C3266134",
          "icd11.foundation:44221751"
        ],
        "synonyms": [
          "vitreoretinal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0020247"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia"
    }
  ]
}