{
  "id": 19129,
  "label": "epidermal disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019268",
  "properties": {
    "xrefs": [
      "MEDGEN:1842776",
      "Orphanet:79353",
      "UMLS:C5681492"
    ],
    "synonyms": [
      "epidermal disease",
      "rare epidermal disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A skin disease that involves the epidermis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 25,
  "parents": [
    {
      "id": 6820,
      "label": "skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:37",
          "EFO:0000701",
          "ICD9:702",
          "ICD9:702.8",
          "ICD9:709.8",
          "MEDGEN:20777",
          "MESH:D012871",
          "NANDO:2100281",
          "NCIT:C3371",
          "SCTID:95320005",
          "UMLS:C0037274"
        ],
        "synonyms": [
          "cutaneous disorder",
          "disease of zone of skin",
          "disease or disorder of zone of skin",
          "disorder of skin",
          "disorder of zone of skin",
          "skin diseases and manifestations",
          "skin disorder",
          "zone of skin disease",
          "zone of skin disease or disorder",
          "dermatosis",
          "genodermatosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005093"
    }
  ],
  "children": [
    {
      "id": 8077,
      "label": "porokeratosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8047,
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3805",
          "EFO:1000757",
          "GARD:0018989",
          "HP:0200044",
          "ICD9:757.39",
          "MEDGEN:56518",
          "MESH:D017499",
          "MedDRA:10036175",
          "NCIT:C85019",
          "OMIMPS:175800",
          "Orphanet:79358",
          "SCTID:400080004",
          "UMLS:C0162839",
          "Wikipedia:Porokeratosis",
          "icd11.foundation:29524620"
        ],
        "synonyms": [
          "porokeratosis",
          "porokeratosis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella."
      },
      "child_count": 12,
      "reference_id": "MONDO:0006602"
    },
    {
      "id": 8808,
      "label": "Darier disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2734",
          "GARD:0006243",
          "ICD9:757.39",
          "MEDGEN:5956",
          "MESH:D007644",
          "MedDRA:10023369",
          "NCIT:C84665",
          "NORD:1329",
          "OMIM:124200",
          "Orphanet:218",
          "SCTID:48611009",
          "UMLS:C0022595",
          "Wikipedia:Darier%27s_disease",
          "icd11.foundation:643994486"
        ],
        "synonyms": [
          "Darier disease",
          "Darier's disease",
          "Darier-White disease",
          "Keratosis Follicularis",
          "keratosis follicularis",
          "DAR",
          "Darier White disease",
          "Darier disease, acral hemorrhagic type",
          "Darier disease, segmental",
          "dar"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007417"
    },
    {
      "id": 8890,
      "label": "absence of fingerprints-congenital milia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080725",
          "GARD:0002336",
          "MEDGEN:140808",
          "MESH:C537659",
          "OMIM:129200",
          "Orphanet:1658",
          "SCTID:239011004",
          "UMLS:C0406707",
          "icd11.foundation:1298640608"
        ],
        "synonyms": [
          "Baird syndrome",
          "absence of dermatoglyphics-congenital milia syndrome",
          "Basan syndrome",
          "absence of dermatoglyphics congenital milia",
          "absence of fingerprints congenital milia",
          "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities",
          "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007507"
    },
    {
      "id": 9106,
      "label": "hyperkeratosis lenticularis perstans",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002824",
          "HP:0007570",
          "MEDGEN:120477",
          "MESH:C538377",
          "MedDRA:10071311",
          "OMIM:144150",
          "Orphanet:409",
          "SCTID:28488007",
          "UMLS:C0263420"
        ],
        "synonyms": [
          "Flegel disease",
          "hyperkeratosis lenticularis perstans",
          "hyperkeratosis lenticularis perstans (disease)",
          "Flegel's disease",
          "HLP",
          "hyperkeratosis lenticularis perstans of Flegel"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007756"
    },
    {
      "id": 9190,
      "label": "keratolytic winter erythema",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008275",
          "ICD9:695.89",
          "MEDGEN:98359",
          "MESH:C536155",
          "NORD:1286",
          "OMIM:148370",
          "Orphanet:50943",
          "SCTID:239064000",
          "UMLS:C0406756",
          "icd11.foundation:1491245207"
        ],
        "synonyms": [
          "Erythrokeratolysis hiemalis",
          "Oudtshoorn disease",
          "keratolytic winter erythema",
          "Erythrokeratolysis hiemalis ichthyosis",
          "KWE",
          "Oudtshoorn skin",
          "Oudtshoorn skin disease",
          "keratolytic WINTER erythema"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007854"
    },
    {
      "id": 9526,
      "label": "Hailey-Hailey disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8070,
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050429",
          "GARD:0006559",
          "MEDGEN:43100",
          "MESH:D016506",
          "NANDO:1200631",
          "NCIT:C82865",
          "NORD:1211",
          "OMIM:169600",
          "Orphanet:2841",
          "SCTID:79468000",
          "UMLS:C0085106",
          "icd11.foundation:818400628"
        ],
        "synonyms": [
          "Hailey-Hailey disease",
          "benign chronic familial pemphigus of Hailey-Hailey",
          "benign chronic pemphigus",
          "pemphigus, benign familial",
          "BCPM",
          "benign familial pemphigus",
          "familial benign chronic pemphigus",
          "familial benign pemphigus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008218"
    },
    {
      "id": 9969,
      "label": "VPS13A-related neurodegenerative disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17399,
        19129,
        19748,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050766",
          "GARD:0003956",
          "ICD9:333.0",
          "MEDGEN:98277",
          "NANDO:1200014",
          "OMIM:200150",
          "Orphanet:2388",
          "SCTID:66881004",
          "UMLS:C0393576"
        ],
        "synonyms": [
          "CHAC",
          "Chac",
          "Levine-Critchley syndrome",
          "VPS13A disease",
          "chorea-acanthocytosis",
          "choreoacanthocytosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008695"
    },
    {
      "id": 9970,
      "label": "acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8454,
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000453",
          "MEDGEN:348051",
          "MESH:C536000",
          "OMIM:200170",
          "Orphanet:90301",
          "UMLS:C1860215"
        ],
        "synonyms": [
          "acanthosis nigricans muscle cramps acral enlargement",
          "acanthosis nigricans with muscle cramps and acral enlargement",
          "familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008696"
    },
    {
      "id": 12291,
      "label": "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017306",
          "MEDGEN:356430",
          "MESH:C566600",
          "OMIM:601952",
          "Orphanet:281201",
          "SCTID:763775000",
          "UMLS:C1866029"
        ],
        "synonyms": [
          "KLICK syndrome",
          "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome",
          "KLICK",
          "Klick syndrome",
          "keratosis linearis with ichthyosis congenita and sclerosing keratoderma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011169"
    },
    {
      "id": 13496,
      "label": "seborrhea-like dermatitis with psoriasiform elements",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017039",
          "MEDGEN:342832",
          "MESH:C565217",
          "OMIM:610227",
          "Orphanet:168606",
          "UMLS:C1853258"
        ],
        "synonyms": [
          "seborrhea-like dermatitis with psoriasiform elements"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012446"
    },
    {
      "id": 14651,
      "label": "psoriasis 14, pustular",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129,
        19503,
        21247,
        24217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080474",
          "GARD:0017679",
          "ICD9:696.1",
          "MEDGEN:581114",
          "NANDO:1200244",
          "NANDO:2200452",
          "NCIT:C119057",
          "OMIM:614204",
          "Orphanet:163931",
          "Orphanet:404546",
          "SCTID:83839005",
          "UMLS:C0392439"
        ],
        "synonyms": [
          "palmoplantar pustulosis",
          "DITRA",
          "IL36RN psoriasis",
          "Interleukin 36 receptor antagonist deficiency",
          "PSORP",
          "PSORS14",
          "acrodermatitis continua of Hallopeau",
          "acrodermatitis continua suppurativa of Hallopeau",
          "deficiency of IL-36R antagonist",
          "deficiency of IL-36Ra",
          "deficiency of the interleukin-36 receptor antagonist",
          "familial generalised pustular psoriasis",
          "psoriasis 14, pustular",
          "psoriasis caused by mutation in IL36RN",
          "GPP",
          "generalised pustular psoriasis",
          "generalized pustular psoriasis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013626"
    },
    {
      "id": 16394,
      "label": "palmoplantar pustulosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129,
        20830
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4398",
          "GARD:0012820",
          "ICD10CM:L40.3",
          "ICD9:696.1",
          "MEDGEN:45290",
          "MedDRA:10050185",
          "NCIT:C34888",
          "NORD:2008",
          "Orphanet:163927",
          "SCTID:27520001",
          "SCTID:81271001",
          "UMLS:C0030246",
          "icd11.foundation:877172115"
        ],
        "synonyms": [
          "LPP",
          "PPP",
          "Palmoplantar Pustulosis",
          "localised pustular psoriasis",
          "localized pustular psoriasis",
          "palmoplantar pustulosis",
          "pustulosis of palm and sole",
          "pustulosis palmaris et plantaris"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background, affecting the palms and soles, sometimes also the lateral aspects of hands and feet. The lesions are usually painful. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015597"
    },
    {
      "id": 16913,
      "label": "hereditary poikiloderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020545",
          "MEDGEN:1842934",
          "Orphanet:222628",
          "UMLS:C5680891"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016382"
    },
    {
      "id": 17008,
      "label": "congenital erosive and vesicular dermatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020619",
          "MEDGEN:1669240",
          "Orphanet:231573",
          "UMLS:C4751164",
          "icd11.foundation:2106762282"
        ],
        "synonyms": [
          "CEVD",
          "congenital erosive and vesicular dermatosis with reticulated supple scarring"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016503"
    },
    {
      "id": 17718,
      "label": "neonatal inflammatory skin and bowel disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6965,
        19129,
        19503,
        21247,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017355",
          "MEDGEN:1648296",
          "OMIMPS:614328",
          "Orphanet:294023",
          "UMLS:C4751120"
        ],
        "synonyms": [
          "inflammatory skin and bowel disease, neonatal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis."
      },
      "child_count": 10,
      "reference_id": "MONDO:0017411"
    },
    {
      "id": 18514,
      "label": "13q12.3 microdeletion syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        17330,
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021737",
          "MEDGEN:1657124",
          "Orphanet:412035",
          "UMLS:C4750951"
        ],
        "synonyms": [
          "Del(13)(q12.3)",
          "monosomy 13q12.3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018474"
    },
    {
      "id": 18589,
      "label": "zinc-responsive necrolytic acral erythema",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021825",
          "MEDGEN:1613901",
          "Orphanet:439196",
          "SCTID:762543009",
          "UMLS:C4546437"
        ],
        "synonyms": [
          "NAE",
          "necrolytic acral erythema"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018586"
    },
    {
      "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": 19130,
      "label": "ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1697",
          "GARD:0018985",
          "HP:0008064",
          "MEDGEN:7002",
          "MESH:D007057",
          "MedDRA:10021198",
          "NANDO:1200618",
          "NCIT:C84776",
          "Orphanet:79354",
          "UMLS:C0020757"
        ],
        "synonyms": [
          "DOC",
          "disorder of cornification",
          "fish scale disease",
          "fish skin disease",
          "ichthyosis",
          "ichthyosis (disease)",
          "non-syndromic ichthyosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019269"
    },
    {
      "id": 19131,
      "label": "erythrokeratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018986",
          "ICD9:757.39",
          "MEDGEN:609461",
          "MedDRA:10015280",
          "Orphanet:79355",
          "SCTID:254215005",
          "UMLS:C0432330"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019270"
    },
    {
      "id": 19132,
      "label": "hereditary palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8066,
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018988",
          "ICD9:757.39",
          "MEDGEN:590657",
          "Orphanet:79357",
          "SCTID:239066003",
          "UMLS:C0406757",
          "icd11.foundation:1941547119"
        ],
        "synonyms": [
          "hereditary PPK",
          "hereditary keratosis palmoplantaris",
          "hereditary palmoplantar hyperkeratosis",
          "hereditary palmoplantar keratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0019272"
    },
    {
      "id": 19133,
      "label": "inherited epidermolysis bullosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8025,
        19129,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018992",
          "ICD9:757.39",
          "MEDGEN:697573",
          "Orphanet:79361",
          "SCTID:402781004",
          "UMLS:C1274224"
        ],
        "synonyms": [
          "epidermolysis bullosa hereditaria",
          "hereditary epidermolysis bullosa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019276"
    },
    {
      "id": 22951,
      "label": "punctate acrokeratoderma freckle-like pigmentation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004603",
          "MEDGEN:1814481",
          "Orphanet:99710",
          "UMLS:C5681635"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0036918"
    },
    {
      "id": 23385,
      "label": "aquagenic palmoplantar keratoderma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8066,
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012991",
          "MEDGEN:1789947",
          "Orphanet:498359",
          "UMLS:C4087301"
        ],
        "synonyms": [
          "aquagenic keratoderma",
          "aquagenic palmoplantar keratoderma",
          "aquagenic syringeal acrokeratoderma",
          "aquagenic wrinkling of the palms",
          "transient reactive papulotranslucent acrokeratoderma",
          "Transient reactive papulotranslucent acrokeratoderma",
          "aquagenic wrinkling of the hands"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044663"
    },
    {
      "id": 24372,
      "label": "phrynoderma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026289",
          "MEDGEN:83101",
          "UMLS:C0334013",
          "icd11.foundation:1716182078"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks."
      },
      "child_count": 0,
      "reference_id": "MONDO:0400004"
    }
  ],
  "roots": [
    {
      "id": 6820,
      "label": "skin disorder"
    }
  ]
}