{ "id": 6820, "label": "skin disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005093", "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." }, "isLeaf": false, "isRoot": false, "child_count": 72, "parents": [ { "id": 4198, "label": "integumentary system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:16", "EFO:0010285", "MEDGEN:712400", "SCTID:128598002", "UMLS:C1290011" ], "synonyms": [ "disease of integumental system", "disease or disorder of integumental system", "disorder of integumental system", "integumental system disease", "integumental system disease or disorder", "integumentary disease", "disorder of integument" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A disease involving the integumental system." }, "child_count": 36, "reference_id": "MONDO:0002051" } ], "children": [ { "id": 4496, "label": "dermatitis", "isLeaf": false, "isRoot": false, "parents": [ 6820, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2723", "ICD9:692.9", "MEDGEN:849741", "MESH:D003872", "NCIT:C2983", "SCTID:43116000", "UMLS:C3875321" ], "synonyms": [ "inflammation of skin", "inflammation of the skin", "inflammation of zone of skin", "inflammatory skin disease", "skin inflammation", "zone of skin inflammation" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." }, "child_count": 66, "reference_id": "MONDO:0002406" }, { "id": 4593, "label": "cutaneous mucinosis", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3141", "ICD9:701.8", "MEDGEN:56520", "MESH:D017520", "SCTID:402721001", "UMLS:C0162855", "icd11.foundation:2018255084" ], "synonyms": [ "mucinosis", "mucinosis affecting the skin", "mucinoses" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses)." }, "child_count": 5, "reference_id": "MONDO:0002523" }, { "id": 4599, "label": "skin neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6798, 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3165", "EFO:0004198", "ICD9:239.2", "MEDGEN:19993", "MESH:D012878", "NCIT:C3372", "ONCOTREE:SKIN", "SCTID:126488004", "UMLS:C0037286" ], "synonyms": [ "neoplasm of skin", "neoplasm of the skin", "neoplasm of zone of skin", "skin neoplasm", "skin neoplasms", "skin tumor", "skin tumour", "tumor of skin", "tumor of the skin", "tumor of zone of skin", "tumour of skin", "tumour of the skin", "tumour of zone of skin", "zone of skin neoplasm", "zone of skin neoplasm (disease)", "zone of skin tumor", "zone of skin tumour", "skin", "skin benign neoplasm" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma." }, "child_count": 34, "reference_id": "MONDO:0002531" }, { "id": 4929, "label": "pyoderma", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4223", "ICD10CM:L08.0", "ICD9:686.0", "ICD9:686.00", "ICD9:686.09", "MEDGEN:18783", "MESH:D011711", "SCTID:70759006", "UMLS:C0034212", "icd11.foundation:1991248382" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Any skin disease that is pyegenic." }, "child_count": 5, "reference_id": "MONDO:0002922" }, { "id": 6396, "label": "chronic ulcer of skin", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8549", "ICD9:707", "ICD9:707.8", "ICD9:707.9", "MEDGEN:510410", "SCTID:19429009", "UMLS:C0157738" ], "synonyms": [ "callous ulcer (morphologic abnormality)", "indolent ulcer (morphologic abnormality)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0004605" }, { "id": 6827, "label": "systemic sclerosis", "isLeaf": false, "isRoot": false, "parents": [ 6820, 19180 ], "type_id": 0, "properties": { "xrefs": [ "DOID:418", "EFO:0000717", "GARD:0009748", "ICD10CM:M34", "ICD10WHO:M34", "ICD9:710.1", "MEDGEN:19897", "MESH:D012595", "MedDRA:10042953", "NANDO:1200277", "NANDO:2200429", "NCIT:C72070", "NORD:2007", "Orphanet:90291", "SCTID:89155008", "UMLS:C0036421", "icd11.foundation:1084365812" ], "synonyms": [ "Scleroderma", "PSS (progressive systemic sclerosis)", "SSc", "SSc, diffuse sclerosis", "Scleroderma (& [systemic sclerosis])", "Scleroderma, diffuse", "Scleroderma, systemic", "Systemic Scleroderma", "diffuse Scleroderma", "diffuse sclerosis", "systemic Scleroderma", "systemic scleroderma", "systemic sclerosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." }, "child_count": 12, "reference_id": "MONDO:0005100" }, { "id": 7017, "label": "sunburn", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003958", "ICD10CM:L55", "ICD10WHO:L55", "ICD9:692.71", "MEDGEN:1789170", "MESH:D013471", "SCTID:403194002", "UMLS:C2136733", "icd11.foundation:318744822" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering." }, "child_count": 0, "reference_id": "MONDO:0005326" }, { "id": 7238, "label": "severe cutaneous adverse reaction", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0006346", "MEDGEN:1843455", "MESH:D002921", "MedDRA:20000020", "UMLS:C5554042" ], "synonyms": [ "SCAR" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE)." }, "child_count": 3, "reference_id": "MONDO:0005594" }, { "id": 7501, "label": "paronychia", "isLeaf": false, "isRoot": false, "parents": [ 4897, 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13117", "EFO:0007421", "HP:0001818", "ICD9:681.9", "MEDGEN:45334", "MESH:D010304", "NCIT:C79702", "SCTID:71906005", "UMLS:C0030578" ], "synonyms": [ "paronychia", "paronychia (disease)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans." }, "child_count": 2, "reference_id": "MONDO:0005898" }, { "id": 8007, "label": "Achenbach syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6687", "EFO:1000661", "GARD:0027759", "MEDGEN:99176", "NCIT:C35467", "PMID:22915534", "SCTID:238824006", "UMLS:C0473563" ], "synonyms": [ "Achenbach syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days." }, "child_count": 0, "reference_id": "MONDO:0006520" }, { "id": 8028, "label": "erythema multiforme", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050185", "EFO:1000694", "ICD10CM:L51", "ICD10WHO:L51", "ICD9:695.1", "ICD9:695.10", "MEDGEN:4527", "MESH:D004892", "NCIT:C3024", "SCTID:36715001", "UMLS:C0014742", "icd11.foundation:364669853" ], "synonyms": [ "Dermatostomatitis, erythema multiforme type", "EM", "Herpes iris, erythema multiforme type", "erythema multiforme bullosum", "erythema polymorphe, erythema multiforme type", "febrile mucocutaneous syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN)." }, "child_count": 0, "reference_id": "MONDO:0006545" }, { "id": 8029, "label": "erythematosquamous dermatosis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9097", "EFO:1000695", "ICD9:690", "ICD9:690.8", "MEDGEN:5014", "NCIT:C34591", "SCTID:54792008", "UMLS:C0014747" ], "synonyms": [ "erythematosquamous dermatosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff." }, "child_count": 0, "reference_id": "MONDO:0006546" }, { "id": 8030, "label": "exanthem", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050486", "EFO:1000697", "HP:0000988", "ICD9:782.1", "MEDGEN:8732", "MESH:D005076", "SCTID:271807003", "UMLS:C0015230", "Wikipedia:Exanthem" ], "synonyms": [ "cutaneous eruption", "rash", "skin eruption", "skin rash", "exanthem", "exanthem (disease)", "exanthema" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A skin disease characterized by widespread, often symmetrical skin eruption that typically occurs acutely in association with a systemic disease, especially infectious or immune-mediated conditions." }, "child_count": 13, "reference_id": "MONDO:0006547" }, { "id": 8031, "label": "facial dermatosis", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3134", "MEDGEN:8760", "MESH:D005148", "UMLS:C0015456" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." }, "child_count": 1, "reference_id": "MONDO:0006548" }, { "id": 8039, "label": "hand dermatosis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3158", "EFO:1000706", "MEDGEN:6718", "MESH:D006229", "UMLS:C0018567" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Skin conditions characterized by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." }, "child_count": 0, "reference_id": "MONDO:0006556" }, { "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": 8049, "label": "leg dermatosis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3142", "MEDGEN:9700", "MESH:D007868", "UMLS:C0023219" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" }, "child_count": 0, "reference_id": "MONDO:0006569" }, { "id": 8050, "label": "lichen disease", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8574", "EFO:1000724", "ICD9:697", "ICD9:697.8", "ICD9:697.9", "MEDGEN:507920", "SCTID:88996004", "UMLS:C0023643" ], "synonyms": [ "lichen", "lichen condition" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." }, "child_count": 2, "reference_id": "MONDO:0006570" }, { "id": 8053, "label": "lipodystrophy", "isLeaf": false, "isRoot": false, "parents": [ 6795, 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:811", "EFO:1000727", "GARD:0027051", "HP:0009125", "ICD9:272.6", "MEDGEN:6111", "MESH:D008060", "NANDO:1200858", "NANDO:2100147", "NANDO:2200404", "NCIT:C97093", "SCTID:71325002", "UMLS:C0023787", "Wikipedia:Lipodystrophy" ], "synonyms": [ "lipodsystrophic syndrome", "lipodsystrophic syndromes", "lipodystrophy", "lipodystrophy (disease)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body." }, "child_count": 10, "reference_id": "MONDO:0006573" }, { "id": 8061, "label": "mongolian spot", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4702", "MEDGEN:75591", "MESH:D049328", "NCIT:C3945", "SCTID:40467008", "UMLS:C0265985", "Wikipedia:Mongolian_spot" ], "synonyms": [ "Mongolian macula", "blue sacral spot", "congenital dermal melanocytosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot." }, "child_count": 0, "reference_id": "MONDO:0006582" }, { "id": 8078, "label": "reactive cutaneous fibrous lesion", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2053", "EFO:1000759", "MEDGEN:235529", "NCIT:C27549", "UMLS:C1335666" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." }, "child_count": 2, "reference_id": "MONDO:0006603" }, { "id": 8079, "label": "rosacea", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8881", "EFO:1000760", "ICD10CM:L71", "ICD10WHO:L71", "ICD9:695.3", "MEDGEN:11269", "MESH:D012393", "NCIT:C97136", "SCTID:398909004", "UMLS:C0035854", "Wikipedia:Rosacea", "icd11.foundation:134161404" ], "synonyms": [ "acne rosacea" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids." }, "child_count": 1, "reference_id": "MONDO:0006604" }, { "id": 8080, "label": "scalp dermatosis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3136", "MEDGEN:19882", "MESH:D012536", "SCTID:402694007", "UMLS:C0036271" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Dermotosis of scalp" }, "child_count": 0, "reference_id": "MONDO:0006605" }, { "id": 8082, "label": "sebaceous gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 4924, 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9098", "EFO:1000763", "ICD9:706.1", "MEDGEN:48599", "MESH:D012625", "SCTID:3441005", "UMLS:C0036502" ], "synonyms": [ "disease of sebaceous gland", "disease or disorder of sebaceous gland", "disorder of sebaceous gland", "sebaceous gland disease", "sebaceous gland disease or disorder", "disease of sebaceous glands" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A disease involving the sebaceous gland." }, "child_count": 14, "reference_id": "MONDO:0006607" }, { "id": 8085, "label": "skin atrophy", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2733", "EFO:1000766", "ICD9:701.8", "MEDGEN:101793", "NCIT:C35163", "SCTID:400190005", "UMLS:C0151514", "Wikipedia:Steroid_atrophy" ], "synonyms": [ "atrophic skin", "atrophy of skin" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging." }, "child_count": 0, "reference_id": "MONDO:0006610" }, { "id": 8086, "label": "skin sarcoidosis", "isLeaf": true, "isRoot": false, "parents": [ 6820, 19178 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13402", "EFO:1000767", "GARD:0024444", "ICD10CM:D86.3", "MEDGEN:19872", "NCIT:C34996", "SCTID:55941000", "UMLS:C0036203", "Wikipedia:Cutaneous_manifestations_of_sarcoidosis" ], "synonyms": [ "cutaneous sarcoidosis", "sarcoidosis of zone of skin", "zone of skin sarcoidosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation." }, "child_count": 0, "reference_id": "MONDO:0006611" }, { "id": 8090, "label": "sweat gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1383", "ICD9:705", "ICD9:705.89", "ICD9:705.9", "MEDGEN:892310", "MESH:D013543", "SCTID:88232005", "UMLS:C0262643" ], "synonyms": [ "disease of sweat gland", "disease or disorder of sweat gland", "disorder of sweat gland", "sweat gland disease", "sweat gland disease or disorder", "disease of sweat glands", "disorder of sweat glands" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A disease involving the sweat gland." }, "child_count": 6, "reference_id": "MONDO:0006615" }, { "id": 8092, "label": "vesiculobullous skin disease", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2731", "EFO:1000774", "MEDGEN:20778", "MESH:D012872", "UMLS:C0037275" ], "synonyms": [ "vesiculobullous skin disease", "Sneddon Wilkinson disease", "Sneddon-Wilkinson disease", "skin diseases, vesicular", "subcorneal pustular dermatoses", "subcorneal pustular dermatosis", "bullous dermatoses", "bullous skin disease", "bullous skin diseases", "dermatoses, bullous", "dermatoses, subcorneal pustular", "dermatoses, vesiculobullous", "dermatosis, subcorneal pustular", "pustular dermatoses, subcorneal", "pustular dermatosis, subcorneal", "skin disease, bullous", "skin disease, vesicular", "skin disease, vesiculobullous", "skin diseases, bullous", "vesicular skin disease", "vesicular skin diseases", "vesiculobullous dermatoses", "vesiculobullous skin diseases" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" }, "child_count": 8, "reference_id": "MONDO:0006617" }, { "id": 8240, "label": "hyperglobulinemic purpura", "isLeaf": true, "isRoot": false, "parents": [ 4662, 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3325", "GARD:0024474", "MEDGEN:19585", "MESH:D011694", "SCTID:402852007", "UMLS:C0034151" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years." }, "child_count": 0, "reference_id": "MONDO:0006792" }, { "id": 8489, "label": "ainhum", "isLeaf": true, "isRoot": false, "parents": [ 5762, 6820, 7061 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11329", "GARD:0027773", "HP:0031009", "ICD10CM:L94.6", "ICD9:136.0", "MEDGEN:1381", "MESH:D000387", "NCIT:C84544", "OMIM:103400", "SCTID:38528001", "UMLS:C0001860", "icd11.foundation:1138885521" ], "synonyms": [ "Dactylolysis", "Dactylolysis spontanea", "ainhum", "ainhum (disease)", "spontaneous dactylolysis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation." }, "child_count": 0, "reference_id": "MONDO:0007074" }, { "id": 8712, "label": "cheilitis glandularis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000412", "MEDGEN:75626", "MESH:C535921", "OMIM:118330", "Orphanet:1221", "SCTID:26374003", "UMLS:C0267034" ], "synonyms": [ "cheilitis glandularis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands." }, "child_count": 0, "reference_id": "MONDO:0007313" }, { "id": 8948, "label": "erythema palmare hereditarium", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017157", "MEDGEN:343587", "MESH:C565041", "OMIM:133000", "Orphanet:231031", "SCTID:763767006", "UMLS:C1851502" ], "synonyms": [ "Red palms disease", "erythema palmare hereditarium", "lane disease" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." }, "child_count": 0, "reference_id": "MONDO:0007570" }, { "id": 9316, "label": "multiple benign circumferential skin creases on limbs", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112241", "GARD:0003589", "MEDGEN:96881", "MESH:C537575", "Orphanet:2505", "UMLS:C0473586" ], "synonyms": [ "CCSF", "CSCSC", "Kunze-Riehm syndrome", "circumferential skin creases, Kunze type", "congenital circumferential skin folds", "Kunze Riehm syndrome", "Michelin tire baby syndrome", "Michelin tyre baby syndrome", "skin creases, multiple benign ring-shaped, of limbs" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0007990" }, { "id": 9580, "label": "actinic prurigo", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017510", "MEDGEN:98348", "MESH:C566780", "OMIM:174770", "Orphanet:330061", "SCTID:201015007", "UMLS:C0406217", "icd11.foundation:1528164728" ], "synonyms": [ "Hutchinson summer prurigo", "actinic prurigo", "familial polymorphous light eruption of American Indians", "hereditary polymorphous light eruption of American Indians", "hydroa aestivale", "juvenile Spring eruption of ears", "polymorphic Light eruption, hereditary" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008273" }, { "id": 10441, "label": "congenital lethal erythroderma", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002192", "MEDGEN:384008", "MESH:C535513", "OMIM:227090", "Orphanet:1954", "SCTID:722391005", "UMLS:C1856898" ], "synonyms": [ "congenital exfoliative erythroderma resistant to treatment", "erythroderma lethal congenital", "erythroderma, lethal congenital", "lethal congenital erythroderma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0009198" }, { "id": 11041, "label": "Parana hard-skin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002598", "MEDGEN:337964", "MESH:C564905", "NCIT:C126559", "OMIM:260530", "Orphanet:2812", "UMLS:C1850079" ], "synonyms": [ "Parana hard-skin syndrome", "hard skin syndrome Parana type", "hard skin syndrome, Parana type", "hard-skin syndrome, Parana type", "Parana hard skin syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." }, "child_count": 0, "reference_id": "MONDO:0009838" }, { "id": 11690, "label": "Bazex-Dupre-Christol syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000838", "ICD9:757.39", "MEDGEN:87539", "OMIM:301845", "Orphanet:113", "Orphanet:166113", "SCTID:238640007", "SCTID:254820002", "UMLS:C0346104" ], "synonyms": [ "BDCS", "Bazex syndrome", "Bazex syndrome, X-linked dominant", "Bazex-Dupre-Christol syndrome", "Bazex-Dupré-Christol syndrome", "acrokeratosis of Bazex", "acrokeratosis paraneoplastica", "acrokeratosis paraneoplastica of Bazex", "follicular atrophoderma and basal cell carcinomas", "BZX", "follicular atrophoderma-basal cell carcinoma syndrome", "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas." }, "child_count": 1, "reference_id": "MONDO:0010535" }, { "id": 16175, "label": "nephrogenic systemic fibrosis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009725", "ICD9:588.89", "MEDGEN:854737", "MESH:D054989", "MedDRA:10067467", "NCIT:C84920", "NORD:1498", "Orphanet:137617", "SCTID:424114000", "UMLS:C3888044", "icd11.foundation:1537082562" ], "synonyms": [ "nephrogenic fibrosing dermopathy", "NFD", "NSF" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease." }, "child_count": 0, "reference_id": "MONDO:0015294" }, { "id": 16910, "label": "erosive pustular dermatosis of the scalp", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002188", "MEDGEN:96057", "Orphanet:222", "SCTID:238733003", "UMLS:C0406464", "icd11.foundation:982719772" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia." }, "child_count": 0, "reference_id": "MONDO:0016379" }, { "id": 16959, "label": "pseudoxanthoma elasticum-like papillary dermal elastolysis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020588", "MEDGEN:1638395", "Orphanet:228293", "SCTID:764105002", "UMLS:C4049455", "icd11.foundation:704601885" ], "synonyms": [ "PXE-PDE", "PXE-like papillary dermal elastolysis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement." }, "child_count": 0, "reference_id": "MONDO:0016448" }, { "id": 17704, "label": "toxic dermatosis", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021171", "MEDGEN:1842825", "Orphanet:293815", "UMLS:C5680999" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 5, "reference_id": "MONDO:0017396" }, { "id": 17996, "label": "oral erosive lichen", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:31142" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017772" }, { "id": 18199, "label": "chronic actinic dermatitis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021506", "ICD10CM:L57.1", "ICD9:692.73", "MEDGEN:76406", "Orphanet:330064", "SCTID:52636001", "UMLS:C0282309", "icd11.foundation:248339081" ], "synonyms": [ "actinic reticuloid", "chronic photosensitivity dermatitis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018025" }, { "id": 18216, "label": "Jessner lymphocytic infiltration of the skin", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006940", "MEDGEN:663150", "NORD:1384", "Orphanet:33314", "UMLS:C0580181", "icd11.foundation:1624135677" ], "synonyms": [ "Jessner-Kanof lymphocytic infiltration of the skin", "Lymphocytic Infiltrate of Jessner", "Jessner disease", "Jessner-Kanof syndrome", "benign chronic T-cell infiltrative disorder", "benign lymphocytic infiltration", "lymphocytic infiltrate of Jessner" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck." }, "child_count": 0, "reference_id": "MONDO:0018051" }, { "id": 18400, "label": "acquired kinky hair syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018826", "MEDGEN:537918", "Orphanet:37559", "UMLS:C0263486" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." }, "child_count": 0, "reference_id": "MONDO:0018302" }, { "id": 18670, "label": "primary cutaneous plasmacytosis", "isLeaf": true, "isRoot": false, "parents": [ 6820, 17611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021888", "MEDGEN:1672491", "Orphanet:451602", "UMLS:C4736227", "icd11.foundation:1669369613" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018679" }, { "id": 18671, "label": "cutaneous pseudolymphoma", "isLeaf": true, "isRoot": false, "parents": [ 6820, 17611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021889", "MEDGEN:81385", "NCIT:C62776", "Orphanet:451607", "SCTID:128862000", "UMLS:C0311220", "icd11.foundation:1620802923" ], "synonyms": [ "lymphadenosis Benigna cutis", "lymphocytoma cutis", "pseudolymphoma of Spiegler" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A pseudolymphoma of the skin." }, "child_count": 0, "reference_id": "MONDO:0018680" }, { "id": 18828, "label": "corticosteroid-sensitive aseptic abscess syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010946", "MEDGEN:929532", "Orphanet:54251", "SCTID:720751000", "UMLS:C4303863" ], "synonyms": [ "aseptic abscesses syndrome", "aseptic systemic abscesses", "disseminated aseptic abscesses", "corticosteroid-sensitive aseptic abscesses" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders." }, "child_count": 0, "reference_id": "MONDO:0018900" }, { "id": 19069, "label": "interstitial granulomatous dermatitis with arthritis", "isLeaf": true, "isRoot": false, "parents": [ 6820, 7203 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018940", "MEDGEN:1658052", "Orphanet:79099", "UMLS:C4751206" ], "synonyms": [ "Ackerman dermatitis syndrome", "IGDA" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes." }, "child_count": 0, "reference_id": "MONDO:0019199" }, { "id": 19129, "label": "epidermal disease", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "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." }, "child_count": 25, "reference_id": "MONDO:0019268" }, { "id": 19139, "label": "skin pigmentation disorder", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10123", "ICD9:709.09", "MEDGEN:316465", "MESH:D010859", "NCIT:C34557", "Orphanet:79374", "UMLS:C1704421" ], "synonyms": [ "pigmentation anomaly of the skin", "pigmentation disease of zone of skin", "zone of skin pigmentation disease", "pigmentation disease" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A pigmentation disease that involves the zone of skin." }, "child_count": 4, "reference_id": "MONDO:0019288" }, { "id": 19142, "label": "skin vascular disease", "isLeaf": false, "isRoot": false, "parents": [ 6820, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9540", "ICD9:709.1", "MEDGEN:102473", "MESH:D017445", "MedDRA:10062171", "NCIT:C35254", "Orphanet:79379", "SCTID:11263005", "UMLS:C0162819" ], "synonyms": [ "skin vascular disorder", "superficial vasculature disease", "vascular disease of the skin", "vascular skin disease", "vasculature skin disease", "disorder of blood vessels affecting skin", "vascular disorder of skin", "vascular disorders of skin" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease that involves the superficial vasculature." }, "child_count": 40, "reference_id": "MONDO:0019293" }, { "id": 19354, "label": "Wells syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000329", "ICD10CM:L98.3", "ICD9:682.9", "MEDGEN:91008", "MESH:C536693", "NORD:1124", "Orphanet:901", "SCTID:238931006", "UMLS:C0343101", "icd11.foundation:1860796142" ], "synonyms": [ "Familial Eosinophilic Cellulitis", "eosinophilic cellulitis", "Wells' syndrome", "bullous cellulitis with eosinophilia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Wells syndrome is characterized by the presence of recurrent cellulitis-like eruptions with eosinophilia." }, "child_count": 0, "reference_id": "MONDO:0019547" }, { "id": 19663, "label": "solar urticaria", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019353", "ICD10CM:L56.3", "ICD9:708.8", "MEDGEN:538004", "MedDRA:10041307", "Orphanet:97230", "SCTID:10347006", "UMLS:C0263610", "icd11.foundation:64163683" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation." }, "child_count": 0, "reference_id": "MONDO:0019945" }, { "id": 19686, "label": "pellagra", "isLeaf": true, "isRoot": false, "parents": [ 6820, 8312 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8457", "GARD:0010014", "ICD9:265.2", "MEDGEN:45364", "MESH:D010383", "MedDRA:10029400", "Orphanet:97352", "SCTID:418279001", "UMLS:C0030783", "icd11.foundation:1108993080" ], "synonyms": [ "pellagra" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management." }, "child_count": 0, "reference_id": "MONDO:0019975" }, { "id": 20277, "label": "hereditary epidermal appendage anomaly", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020265", "MEDGEN:1843118", "Orphanet:183447", "UMLS:C5680583" ], "synonyms": [ "genetic epidermal appendage anomaly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." }, "child_count": 3, "reference_id": "MONDO:0021026" }, { "id": 20282, "label": "keratosis pilaris", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:82664", "NCIT:C124070", "SCTID:5132005", "UMLS:C0263383", "icd11.foundation:1614890502" ], "synonyms": [ "KP" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A form of dry skin characterized by hair follicles plugged by scale." }, "child_count": 1, "reference_id": "MONDO:0021036" }, { "id": 20387, "label": "dermis disorder", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1843083", "Orphanet:79381", "UMLS:C5681483" ], "synonyms": [ "dermis disease", "dermis disease or disorder", "disease of dermis", "disease or disorder of dermis", "disorder of dermis", "other dermis disorder" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A disease that involves the dermis." }, "child_count": 28, "reference_id": "MONDO:0021154" }, { "id": 20776, "label": "aquagenic pruritus", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:698.8", "MEDGEN:98026", "SCTID:238695001", "UMLS:C0406409", "icd11.foundation:1090223712" ], "synonyms": [ "aquagenic pruritus", "water-induced itching" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success." }, "child_count": 0, "reference_id": "MONDO:0021913" }, { "id": 20804, "label": "Boudhina Yedes Khiari syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419467", "MESH:C537939", "UMLS:C2931668" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions" }, "child_count": 0, "reference_id": "MONDO:0022020" }, { "id": 20963, "label": "non-neoplastic nevus", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:448.1", "MEDGEN:78119", "NCIT:C3937", "SCTID:195381005", "UMLS:C0265027" ], "synonyms": [ "non-neoplastic nevus", "Non-Neoplastic Nevus", "Non-neoplastic nevus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth." }, "child_count": 0, "reference_id": "MONDO:0022749" }, { "id": 21053, "label": "cutaneous sclerosis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022907" }, { "id": 21215, "label": "pityriasis rotunda", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010904", "MEDGEN:575364", "SCTID:238639005", "UMLS:C0343060", "icd11.foundation:873448556" ], "synonyms": [ "Pityriasis rotunda" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda." }, "child_count": 0, "reference_id": "MONDO:0023388" }, { "id": 21265, "label": "hematohidrosis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013131", "ICD9:705.89", "MEDGEN:633305", "SCTID:238757003", "UMLS:C0473554" ], "synonyms": [ "Hematidrosis", "Hematohidrosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting." }, "child_count": 0, "reference_id": "MONDO:0023679" }, { "id": 21328, "label": "skin disorder caused by infection", "isLeaf": false, "isRoot": false, "parents": [ 6820, 7200 ], "type_id": 0, "properties": { "xrefs": [ "MESH:D012874" ], "synonyms": [ "disease, infectious skin", "diseases, infectious skin", "infectious skin disease", "infectious skin diseases", "skin disease, infectious" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Skin diseases caused by bacteria, fungi, parasites, or viruses." }, "child_count": 30, "reference_id": "MONDO:0024294" }, { "id": 21710, "label": "livedoid vasculopathy", "isLeaf": true, "isRoot": false, "parents": [ 6820, 18813 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0040099", "GARD:0012784", "ICD10CM:L95.0", "ICD9:709.1", "ICD9CM:709.1", "MEDGEN:575376", "MESH:D000090122", "Orphanet:542643", "SCTID:238762002", "UMLS:C0343081", "icd11.foundation:1237292304" ], "synonyms": [ "livedoid vasculitis", "livedoid vasculopathy", "idiopathic atrophic blanche", "livedo reticularis with summer ulcerations", "livedo reticularis with winter ulcerations", "livedo vasculitis", "segmental hyalinizing vasculopathy", "white atrophy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia." }, "child_count": 0, "reference_id": "MONDO:0025514" }, { "id": 21724, "label": "prurigo nodularis", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:L28.1", "MEDGEN:120471", "UMLS:C0263353" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities." }, "child_count": 0, "reference_id": "MONDO:0026045" }, { "id": 22920, "label": "granuloma faciale", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022442", "ICD10CM:L92.2", "MEDGEN:536904", "Orphanet:615943", "UMLS:C0239495", "icd11.foundation:1663072571" ], "synonyms": [ "Facial granuloma of Lever", "Granuloma of Lever" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0035879" }, { "id": 23248, "label": "sclerema neonatorum", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:20677", "MESH:D012593", "NCIT:C35009", "SCTID:206539008", "UMLS:C0036415", "icd11.foundation:1470028414" ], "synonyms": [ "sclerema neonatorum", "sclerema adiposum", "underwood's disease" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life." }, "child_count": 0, "reference_id": "MONDO:0043783" }, { "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" }, { "id": 24444, "label": "hand-foot syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6820 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:107497", "MESH:D060831", "NCIT:C27177", "UMLS:C0549410" ], "synonyms": [ "palmar-plantar erythrodysthesia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents." }, "child_count": 0, "reference_id": "MONDO:0700048" }, { "id": 26045, "label": "Nicolau syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027177", "MEDGEN:810780", "Orphanet:664787", "UMLS:C1142083" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0971103" } ], "roots": [ { "id": 4198, "label": "integumentary system disorder" } ] }