{
  "id": 2737,
  "label": "keratosis follicularis spinulosa decalvans",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000136",
  "properties": {
    "xrefs": [
      "DOID:0080753",
      "GARD:0006829",
      "ICD9:757.39",
      "MEDGEN:83355",
      "NORD:1288",
      "Orphanet:2340",
      "SCTID:238626006",
      "UMLS:C0343057",
      "icd11.foundation:303213910"
    ],
    "synonyms": [
      "keratosis pilaris decalvans"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 8047,
      "label": "keratosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820,
        23507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:161",
          "EFO:1000720",
          "MEDGEN:9625",
          "MESH:D007642",
          "NCIT:C34745",
          "SCTID:254666005",
          "UMLS:C0022593"
        ],
        "synonyms": [
          "keratoderma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A skin disorder consisting of hypertrophy of the stratum corneum of the skin."
      },
      "child_count": 18,
      "reference_id": "MONDO:0006566"
    },
    {
      "id": 18791,
      "label": "keratosis pilaris atrophicans",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19129,
        20282,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080751",
          "GARD:0018694",
          "ICD9:757.39",
          "MEDGEN:75520",
          "MESH:C537412",
          "OMIM:604093",
          "Orphanet:498",
          "SCTID:400059005",
          "UMLS:C0263428",
          "icd11.foundation:273325594"
        ],
        "synonyms": [
          "keratosis pilaris atrophicans",
          "Atrophodermia reticulata",
          "Atrophodermia reticulata symmetrica faciei",
          "Atrophodermia vermiculata",
          "KPA",
          "amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2",
          "burnett Schwartz Berberian syndrome",
          "folliculitis ulerythematosa",
          "folliculitis ulerythematosa reticulata",
          "honeycomb atrophy",
          "keratosis pilaris",
          "keratosis pilaris atrophicans facies",
          "ulerythema ophryogenes",
          "ulerythema ophryogenes with multiple congenital anomalies",
          "ulerythema ophryogenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018855"
    },
    {
      "id": 24863,
      "label": "disorder of polyamine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24199
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026469"
        ],
        "definition": "An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process."
      },
      "child_count": 4,
      "reference_id": "MONDO:0800159"
    }
  ],
  "children": [
    {
      "id": 11783,
      "label": "keratosis follicularis spinulosa decalvans, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2737
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080754",
          "GARD:0015299",
          "MEDGEN:854384",
          "MESH:C536159",
          "OMIM:308800",
          "UMLS:C3887525"
        ],
        "synonyms": [
          "keratosis follicularis spinulosa decalvans, X-linked",
          "keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive",
          "KFSDX",
          "Kfsdx",
          "keratosis follicularis SPINULOSA decalvans, X-linked",
          "keratosis follicularis Spinulosa decalvans cum Ophiasi",
          "keratosis follicularis spinulosa decalvans",
          "keratosis follicularis spinulosa decalvans cum ophiasi"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010637"
    },
    {
      "id": 14057,
      "label": "keratosis follicularis spinulosa decalvans, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2737
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080755",
          "GARD:0015586",
          "MEDGEN:412573",
          "MESH:C567553",
          "OMIM:612843",
          "UMLS:C2748527"
        ],
        "synonyms": [
          "keratosis follicularis spinulosa decalvans, autosomal dominant",
          "KFSD",
          "keratosis follicularis SPINULOSA decalvans, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013018"
    }
  ],
  "roots": [
    {
      "id": 8047,
      "label": "keratosis"
    },
    {
      "id": 18791,
      "label": "keratosis pilaris atrophicans"
    },
    {
      "id": 24863,
      "label": "disorder of polyamine metabolism"
    }
  ]
}