{
  "id": 21462,
  "label": "familial acne inversa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024516",
  "properties": {
    "xrefs": [
      "MEDGEN:326766",
      "OMIMPS:142690",
      "UMLS:C1840560"
    ],
    "synonyms": [
      "ACNINV",
      "familial hidradenitis suppurativa",
      "hereditary hidradenitis suppurativa"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 8042,
      "label": "hidradenitis suppurativa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4376
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2280",
          "EFO:1000710",
          "ICD10CM:L73.2",
          "MEDGEN:57993",
          "MESH:D017497",
          "Orphanet:387",
          "SCTID:59393003",
          "UMLS:C0162836",
          "Wikipedia:Hidradenitis_suppurativa",
          "icd11.foundation:1621794154"
        ],
        "synonyms": [
          "acne inversa",
          "ectopic acne",
          "fox den disease",
          "hidradenitis suppurativa",
          "pyoderma fistulans significa",
          "verneuil disease",
          "acne inversa, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident."
      },
      "child_count": 1,
      "reference_id": "MONDO:0006559"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 9081,
      "label": "acne inversa, familial, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1631104",
          "OMIM:142690",
          "UMLS:C4551962"
        ],
        "synonyms": [
          "NCSTN familial acne inversa",
          "acne inversa, familial, 1",
          "acne inversa, familial, type 1",
          "familial acne inversa caused by mutation in NCSTN",
          "ACNINV1",
          "acne inversa, familial",
          "hidradenitis suppurativa, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007728"
    },
    {
      "id": 14430,
      "label": "acne inversa, familial, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:462387",
          "OMIM:613736",
          "UMLS:C3151037"
        ],
        "synonyms": [
          "PSENEN familial acne inversa",
          "acne inversa, familial, 2",
          "acne inversa, familial, type 2",
          "familial acne inversa caused by mutation in PSENEN",
          "ACNINV2",
          "acne inversa, familial, 2, with or without Dowling-Degos disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013397"
    },
    {
      "id": 14431,
      "label": "acne inversa, familial, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:462388",
          "OMIM:613737",
          "UMLS:C3151038"
        ],
        "synonyms": [
          "PSEN1 familial acne inversa",
          "acne inversa, familial, 3",
          "acne inversa, familial, type 3",
          "familial acne inversa caused by mutation in PSEN1",
          "ACNINV3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013398"
    }
  ],
  "roots": [
    {
      "id": 8042,
      "label": "hidradenitis suppurativa"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}