{ "id": 23867, "label": "hereditary skin disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0100118", "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." }, "isLeaf": false, "isRoot": false, "child_count": 114, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "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": 2701, "label": "alopecia, isolated", "isLeaf": false, "isRoot": false, "parents": [ 6660, 23867 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:203655" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 16, "reference_id": "MONDO:0000005" }, { "id": 2731, "label": "reticulate pigment disorder", "isLeaf": false, "isRoot": false, "parents": [ 19139, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022712", "OMIMPS:179850" ], "synonyms": [ "reticulate pigment disorders" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0000118" }, { "id": 3112, "label": "dyschromatosis universalis hereditaria", "isLeaf": false, "isRoot": false, "parents": [ 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060304", "GARD:0001996", "MEDGEN:419691", "MESH:C535730", "NCIT:C173131", "OMIMPS:127500", "Orphanet:241", "SCTID:239082002", "UMLS:C2930995", "icd11.foundation:480710406" ], "synonyms": [ "dyschromatosis universalis", "DUH" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." }, "child_count": 6, "reference_id": "MONDO:0000736" }, { "id": 6811, "label": "psoriasis", "isLeaf": false, "isRoot": false, "parents": [ 4496, 6778, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8893", "EFO:0000676", "ICD10CM:L40", "ICD10WHO:L40", "ICD9:696", "ICD9:696.1", "ICD9:696.5", "ICD9:696.8", "MEDGEN:10997", "MESH:D011565", "NCIT:C3346", "OMIMPS:177900", "SCTID:9014002", "UMLS:C0033860", "icd11.foundation:63698555" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." }, "child_count": 9, "reference_id": "MONDO:0005083" }, { "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": 8465, "label": "hereditary papulotranslucent acrokeratoderma", "isLeaf": true, "isRoot": false, "parents": [ 8047, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060360", "EFO:1000708", "MEDGEN:350144", "MESH:C566323", "OMIM:101840", "UMLS:C1863343" ], "synonyms": [ "acrokeratoderma, hereditary papulotranslucent" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." }, "child_count": 0, "reference_id": "MONDO:0007046" }, { "id": 8467, "label": "acrokeratosis verruciformis", "isLeaf": true, "isRoot": false, "parents": [ 8047, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050606", "EFO:1000666", "GARD:0016707", "ICD9:757.39", "MEDGEN:75589", "MedDRA:10069445", "NCIT:C27519", "OMIM:101900", "Orphanet:79151", "SCTID:400085009", "UMLS:C0265971" ], "synonyms": [ "AKV of Hopf", "Hopf disease", "acrokeratosis verruciformis", "acrokeratosis verruciformis of Hopf", "AKV" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." }, "child_count": 0, "reference_id": "MONDO:0007048" }, { "id": 8491, "label": "Tietz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19141, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090002", "GARD:0007772", "ICD9:270.2", "MEDGEN:98213", "MESH:C536919", "OMIM:103500", "Orphanet:42665", "SCTID:403805009", "UMLS:C0391816" ], "synonyms": [ "Tietz albinism-deafness syndrome", "Tietz syndrome", "albinism-deafness of Tietz", "hypopigmentation-deafness syndrome", "hypopigmentation/deafness of Tietz", "TADS" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." }, "child_count": 0, "reference_id": "MONDO:0007077" }, { "id": 8514, "label": "familial primary localized cutaneous amyloidosis", "isLeaf": false, "isRoot": false, "parents": [ 16181, 18631, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017533", "MEDGEN:725603", "MESH:C562643", "OMIMPS:105250", "Orphanet:353220", "UMLS:C1304242" ], "synonyms": [ "FPLCA", "hereditary primary cutaneous amyloidosis", "primary localised cutaneous amyloidosis", "primary localized cutaneous amyloidosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 9, "reference_id": "MONDO:0007101" }, { "id": 8530, "label": "isolated anhidrosis with normal sweat glands", "isLeaf": true, "isRoot": false, "parents": [ 8014, 19144, 20387, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060603", "GARD:0017843", "MEDGEN:1800259", "OMIM:106190", "Orphanet:468666", "UMLS:C5568836" ], "synonyms": [ "Dann-Epstein-Sohar syndrome", "ITPR2 anhidrosis", "anhidrosis caused by mutation in ITPR2", "ANHD", "anhidrosis, isolated, with normal sweat glands", "isolated generalised anhidrosis with normal sweat glands", "isolated generalized anhidrosis with normal sweat glands" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene." }, "child_count": 0, "reference_id": "MONDO:0007118" }, { "id": 8554, "label": "aplasia cutis congenita", "isLeaf": false, "isRoot": false, "parents": [ 19143, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080661", "GARD:0005835", "HP:0001057", "ICD9:757.39", "MEDGEN:79390", "NCIT:C98822", "NORD:794", "OMIM:107600", "Orphanet:1114", "SCTID:35484002", "UMLS:C0282160", "icd11.foundation:350175828" ], "synonyms": [ "aplasia cutis congenita", "aplasia cutis congenita (disease)", "aplasia cutis congenita recessive", "ACC", "aplasia cutis congenita nonsyndromic", "aplasia cutis congenita, nonsyndromic", "congenital defect of skull and scalp", "scalp defect congenital", "scalp defect, congenital" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." }, "child_count": 6, "reference_id": "MONDO:0007145" }, { "id": 8608, "label": "blue rubber bleb nevus", "isLeaf": true, "isRoot": false, "parents": [ 16218, 19142, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005940", "MEDGEN:83401", "MESH:C536240", "NANDO:2201027", "NCIT:C4486", "NORD:865", "OMIM:112200", "Orphanet:1059", "SCTID:254784002", "UMLS:C0346072" ], "synonyms": [ "BRBN", "BRBNS", "Blue Rubber Bleb Nevus syndrome", "bean syndrome", "blue rubber bleb nevus", "blue rubber bleb nevus syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." }, "child_count": 0, "reference_id": "MONDO:0007203" }, { "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": 8836, "label": "dermatosis papulosa nigra", "isLeaf": true, "isRoot": false, "parents": [ 4496, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4400", "EFO:1000686", "ICD9:709.8", "MEDGEN:4238", "MESH:C562379", "NCIT:C2984", "OMIM:125600", "SCTID:254669003", "UMLS:C0011645", "Wikipedia:Dermatosis_papulosa_nigra", "icd11.foundation:168986957" ], "synonyms": [ "dermatosis papulosa nigra", "dermatosis papulosa nigra (morphologic abnormality)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body." }, "child_count": 0, "reference_id": "MONDO:0007446" }, { "id": 8837, "label": "autosomal dominant vibratory urticaria", "isLeaf": true, "isRoot": false, "parents": [ 2903, 8093, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009806", "ICD9:995.1", "MESH:C536347", "OMIM:125630", "OMIM:193050", "Orphanet:493342", "SCTID:238694002" ], "synonyms": [ "angioedema, vibratory", "vibratory angioedema", "DDU", "VBU", "dermodistortive urticaria", "vibratory urticaria, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." }, "child_count": 0, "reference_id": "MONDO:0007447" }, { "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": 8943, "label": "pilomatrixoma", "isLeaf": true, "isRoot": false, "parents": [ 5344, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5374", "EFO:0009082", "GARD:0009452", "ICDO:8110/0", "MEDGEN:61666", "MESH:D018296", "MedDRA:10035040", "NCIT:C7368", "OMIM:132600", "Orphanet:91414", "SCTID:274901004", "UMLS:C0206711", "icd11.foundation:378820295" ], "synonyms": [ "calcifying Epitherlioma of Malherbe", "epithelioma calcificans of Malherbe", "pilomatricoma", "pilomatricoma, somatic", "pilomatrixoma", "pilomatrixoma, benign", "benign hair follicle neoplasm", "benign pilomatricoma", "benign pilomatrixoma", "PTR", "calcifying epithelioma of Malherbe" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." }, "child_count": 0, "reference_id": "MONDO:0007564" }, { "id": 8952, "label": "spinocerebellar ataxia type 34", "isLeaf": true, "isRoot": false, "parents": [ 19131, 19535, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050981", "GARD:0000059", "MEDGEN:338703", "MESH:C535738", "NORD:1105", "OMIM:133190", "Orphanet:1955", "SCTID:719255000", "UMLS:C1851481" ], "synonyms": [ "Erythrokeratodermia with Ataxia", "SCA34", "erythrokeratodermia with ataxia", "spinocerebellar ataxia and erythrokeratodermia", "spinocerebellar ataxia type 34", "Giroux Barbeau syndrome", "erythrokeratodermia - ataxia", "spinocerebellar ataxia 34" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." }, "child_count": 0, "reference_id": "MONDO:0007574" }, { "id": 8985, "label": "isolated congenital adermatoglyphia", "isLeaf": true, "isRoot": false, "parents": [ 2903, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111357", "GARD:0012550", "MEDGEN:338875", "MESH:C565010", "OMIM:136000", "Orphanet:289465", "SCTID:763748007", "UMLS:C1852150" ], "synonyms": [ "ADG", "absence of fingerprints", "adermatoglyphia", "fingerprints, absence of", "ADERM", "congenital absence of fingerprints", "immigration delay disease", "isolated congenital adermatoglyphia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles." }, "child_count": 0, "reference_id": "MONDO:0007619" }, { "id": 9098, "label": "isolated hyperchlorhidrosis", "isLeaf": true, "isRoot": false, "parents": [ 7611, 20277, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111371", "GARD:0017984", "ICD9:276.9", "MEDGEN:333560", "OMIM:143860", "Orphanet:542657", "SCTID:709413001", "UMLS:C1840437" ], "synonyms": [ "hyperchlorhidrosis, isolated", "isolated hyperchlorhidrosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007747" }, { "id": 9107, "label": "hyperkeratosis-hyperpigmentation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016563", "MEDGEN:326735", "MESH:C564172", "OMIM:144190", "Orphanet:1336", "UMLS:C1840428" ], "synonyms": [ "hyperkeratosis-hyperpigmentation syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." }, "child_count": 0, "reference_id": "MONDO:0007757" }, { "id": 9120, "label": "hyperpigmentation with or without hypopigmentation, familial progressive", "isLeaf": false, "isRoot": false, "parents": [ 14672, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111373", "GARD:0018073", "MEDGEN:333550", "OMIM:145250", "UMLS:C1840392" ], "synonyms": [ "hyperpigmentation with or without hypopigmentation", "hyperpigmentation with or without hypopigmentation, familial progressive", "macules, hereditary congenital hypopigmented and hyperpigmented", "melanosis, universal", "FPHH", "hyperpigmentation, familial progressive, 2", "hyperpigmentation, familial progressive, 2, formerly", "melanosis universalis hereditaria" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0007771" }, { "id": 9233, "label": "lichen sclerosus et atrophicus", "isLeaf": false, "isRoot": false, "parents": [ 4496, 23867 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:L90.0", "MEDGEN:7338", "MESH:D018459", "NCIT:C26817", "OMIM:151590", "Orphanet:33409", "SCTID:25674000", "UMLS:C0023652" ], "synonyms": [ "lichen sclerosus et atrophicus", "LSA", "lichen SCLEROSUS ET ATROPHICUS", "lichen sclerosis", "lichen sclerosis et atrophicus", "lichen sclerosus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." }, "child_count": 2, "reference_id": "MONDO:0007899" }, { "id": 9236, "label": "lichen planus, familial", "isLeaf": true, "isRoot": false, "parents": [ 8052, 23867 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:372036", "MESH:C563624", "OMIM:151620", "UMLS:C1835402" ], "synonyms": [ "hereditary lichen planus", "lichen planus, familial" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An instance of lichen planus that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0007902" }, { "id": 9335, "label": "monilethrix", "isLeaf": false, "isRoot": false, "parents": [ 2903, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050472", "GARD:0000093", "MEDGEN:108185", "MESH:D056734", "NCIT:C84894", "NORD:1454", "OMIMPS:158000", "Orphanet:573", "SCTID:69488000", "UMLS:C0546966", "icd11.foundation:415074833" ], "synonyms": [ "monilethrix", "moniliform hair syndrome", "MNLIX", "nodose hair" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." }, "child_count": 6, "reference_id": "MONDO:0008009" }, { "id": 9343, "label": "hereditary mucoepithelial dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005427", "ICD9:478.79", "MEDGEN:220887", "MESH:C536476", "OMIM:158310", "Orphanet:1839", "SCTID:403442005", "UMLS:C1274795", "icd11.foundation:1167609602" ], "synonyms": [ "HMD", "Urban-Schosser-Spohn syndrome", "mucoepithelial dysplasia, hereditary" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition." }, "child_count": 0, "reference_id": "MONDO:0008017" }, { "id": 9396, "label": "schwannomatosis", "isLeaf": false, "isRoot": false, "parents": [ 4599, 4612, 19140, 19507, 20303, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3204", "GARD:0004768", "ICD10CM:Q85.03", "ICD9:237.73", "ICDO:9560/1", "MEDGEN:234775", "NCIT:C6557", "OMIMPS:162091", "Orphanet:93921", "UMLS:C1335929" ], "synonyms": [ "NF3", "Neurinomatosis", "Schwannomatosis", "neurilemmomatosis", "neurofibromatosis type 3", "schwannomatosis", "schwannomatosis, NEC", "schwannomatosis, NOS", "congenital cutaneous neurilemmomatosis", "neurilemmomatosis congenital cutaneous", "neurilemmomatosis, congenital cutaneous", "neurinoma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." }, "child_count": 24, "reference_id": "MONDO:0008075" }, { "id": 9411, "label": "nevus, epidermal", "isLeaf": false, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111162", "GARD:0024601", "MEDGEN:83106", "MESH:C580062", "NCIT:C4088", "OMIM:162900", "UMLS:C0334082" ], "synonyms": [ "Epidermal Nevus", "epidermal nevus, somatic", "nevus sebaceous or woolly hair nevus, somatic", "nevus sebaceous or wooly hair nevus, somatic", "nevus, epidermal", "nevus, epidermal, somatic", "Nevus sebaceous", "Nevus, Keratinocytic, nonepidermolytic", "Nevus, woolly hair", "Nevus, wooly hair" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, "child_count": 2, "reference_id": "MONDO:0008093" }, { "id": 9412, "label": "familial multiple nevi flammei", "isLeaf": true, "isRoot": false, "parents": [ 16809, 19142, 20710, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111529", "GARD:0003986", "MEDGEN:419699", "MedDRA:10067193", "NCIT:C3840", "OMIM:163000", "Orphanet:624", "SCTID:416377005", "UMLS:C2931029" ], "synonyms": [ "Nevus flammeus", "Salmon patch Nevus", "capillary malformations, congenital, 1, somatic, mosaic", "familial multiple port-wine stains", "port wine Nevus", "port wine birthmark", "port wine stain", "port wine stain of skin", "port wine stain of the skin", "port wine type hemangioma", "port-wine stain of skin", "CMC", "capillary malformations", "capillary malformations, congenital", "nevi flammei, familial multiple", "port-wine stain", "port-wine stain familial multiple" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." }, "child_count": 0, "reference_id": "MONDO:0008094" }, { "id": 9415, "label": "linear nevus sebaceous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7993, 19507, 19759, 23867, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111530", "GARD:0010291", "MEDGEN:1646345", "NCIT:C4678", "NORD:1692", "OMIM:163200", "Orphanet:2612", "UMLS:C4552097" ], "synonyms": [ "Nevus Sebaceus Syndrome", "Nevus sebaceous of Jadassohn", "Nevus sebaceus of Jadassohn", "Nevus sebaceus syndrome", "Schimmelpenning syndrome", "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic", "Solomon syndrome", "linear sebaceous Nevus", "organoid Nevus", "organoid nevus syndrome", "Epidermal Nevus syndrome, formerly", "JNP", "Jadassohn Nevus phakomatosis", "Jadassohn nevus phakomatosis", "SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome", "SFM", "SFM syndrome", "Schimmelpenning Feuerstein Mims syndrome", "Sfm syndrome", "epidermal nevus syndrome", "linear sebaceous Nevus syndrome", "organoid Nevus phakomatosis", "organoid nevus phakomatosis", "sebaceous Nevus syndrome, linear", "sebaceous nevus syndrome linear" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement)." }, "child_count": 0, "reference_id": "MONDO:0008097" }, { "id": 9464, "label": "progressive osseous heteroplasia", "isLeaf": true, "isRoot": false, "parents": [ 20387, 23867, 25052 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111535", "GARD:0000109", "MEDGEN:137714", "MESH:C562735", "MedDRA:10048902", "NORD:1618", "OMIM:166350", "Orphanet:2762", "SCTID:719271000", "UMLS:C0334041", "icd11.foundation:1107209347" ], "synonyms": [ "POH", "familial ectopic ossification", "poh", "ectopic ossification familial type", "ectopic ossification, familial", "osseous heteroplasia, progressive", "osteoma cutis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation." }, "child_count": 0, "reference_id": "MONDO:0008153" }, { "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": 9551, "label": "piebaldism", "isLeaf": true, "isRoot": false, "parents": [ 2903, 7019, 19141, 20691, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3263", "GARD:0004344", "ICD9:270.2", "MEDGEN:36361", "MESH:D016116", "NCIT:C85009", "OMIM:172800", "Orphanet:2884", "SCTID:6479008", "UMLS:C0080024", "icd11.foundation:2089421143" ], "synonyms": [ "piebald trait", "piebaldism", "PBT" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." }, "child_count": 0, "reference_id": "MONDO:0008244" }, { "id": 9558, "label": "familial pityriasis rubra pilaris", "isLeaf": true, "isRoot": false, "parents": [ 23775, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024612", "MEDGEN:443914", "MESH:C531784", "MedDRA:10035116", "OMIM:173200", "Orphanet:2897", "UMLS:C2930842" ], "synonyms": [ "pityriasis rubra pilaris", "Devergie's disease", "PRP", "hereditary pityriasis rubra pilaris", "pityriasis rubra pilaris--familial type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists." }, "child_count": 0, "reference_id": "MONDO:0008251" }, { "id": 9702, "label": "scalp defects-postaxial polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6893, 18956, 19143, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000241", "MEDGEN:401140", "MESH:C536622", "OMIM:181250", "Orphanet:1003", "UMLS:C1867021" ], "synonyms": [ "congenital scalp defects associated with postaxial polydactyly", "scalp defects and postaxial polydactyly", "scalp defects postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A." }, "child_count": 0, "reference_id": "MONDO:0008403" }, { "id": 9715, "label": "seborrheic keratosis", "isLeaf": false, "isRoot": false, "parents": [ 8047, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6498", "EFO:0005584", "ICD10CM:L82", "ICD9:702.1", "MEDGEN:5957", "MESH:D017492", "NCIT:C9006", "OMIM:182000", "SCTID:398838000", "UMLS:C0022603", "Wikipedia:Seborrheic_keratosis" ], "synonyms": [ "basal cell papilloma", "keratosis Seborrheica", "keratosis, seborrheic, somatic", "keratosis, seborrheic" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." }, "child_count": 10, "reference_id": "MONDO:0008420" }, { "id": 9729, "label": "Sneddon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2933, 19142, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13096", "EFO:1001186", "GARD:0007664", "MEDGEN:76449", "MESH:D018860", "MedDRA:10053841", "NORD:1726", "OMIM:182410", "Orphanet:820", "SCTID:238776001", "UMLS:C0282492", "icd11.foundation:1474816492" ], "synonyms": [ "Ehrmann-Sneddon syndrome", "Sneddon syndrome", "livedo racemosa-cerebrovascular accident syndrome", "livedo reticularis-cerebrovascular accident syndrome", "Sneddon's syndrome", "cerebro-vascular lesions and livedo reticularis", "livedo racemosa and cerebrovascular accidents" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." }, "child_count": 0, "reference_id": "MONDO:0008436" }, { "id": 9776, "label": "sebocystomatosis", "isLeaf": true, "isRoot": false, "parents": [ 8082, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111556", "GARD:0005003", "ICD10CM:L72.2", "MEDGEN:75476", "OMIM:184500", "Orphanet:841", "SCTID:109433009", "UMLS:C0259771" ], "synonyms": [ "Steatocystoma multiplex", "STEATOCYSTOMA multiplex", "multiple sebaceous cysts", "multiplex steatocystoma", "sebaceous cysts, multiple" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities." }, "child_count": 0, "reference_id": "MONDO:0008485" }, { "id": 9783, "label": "stiff skin syndrome", "isLeaf": false, "isRoot": false, "parents": [ 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111561", "GARD:0005025", "MEDGEN:348877", "MESH:C566112", "NCIT:C118636", "OMIM:184900", "Orphanet:2833", "SCTID:765187004", "UMLS:C1861456", "icd11.foundation:642409035" ], "synonyms": [ "stiff skin syndrome", "SSKS", "STIFF skin syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy." }, "child_count": 1, "reference_id": "MONDO:0008492" }, { "id": 9880, "label": "familial multiple discoid fibromas", "isLeaf": true, "isRoot": false, "parents": [ 4599, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008479", "MEDGEN:348201", "MESH:C536847", "OMIM:190340", "Orphanet:538756", "UMLS:C1860850" ], "synonyms": [ "FMDF", "discoid fibromas, familial multiple", "familial multiple trichodiscomas", "hereditary multiple trichodiscomas", "small benign fibrovascular tumor of the dermal part of the hair disk", "small benign fibrovascular tumour of the dermal part of the hair disc", "trichodiscomas, familial multiple" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation." }, "child_count": 0, "reference_id": "MONDO:0008594" }, { "id": 9914, "label": "urticaria, aquagenic", "isLeaf": true, "isRoot": false, "parents": [ 7148, 23867 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:708.8", "MEDGEN:82663", "MESH:C562481", "OMIM:191850", "SCTID:89870006", "UMLS:C0263334" ], "synonyms": [ "Physical urticaria", "urticaria, aquagenic", "aquagenic urticaria" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success." }, "child_count": 0, "reference_id": "MONDO:0008632" }, { "id": 9916, "label": "urticaria, familial localized heat", "isLeaf": true, "isRoot": false, "parents": [ 7148, 23867 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:395922", "MESH:C566011", "OMIM:191950", "UMLS:C1860551" ], "synonyms": [ "urticaria, familial localized heat" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008634" }, { "id": 9922, "label": "vasculitis, lymphocytic, nodular", "isLeaf": true, "isRoot": false, "parents": [ 18813, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006941", "MEDGEN:348635", "MESH:C566008", "OMIM:192310", "UMLS:C1860519" ], "synonyms": [ "vasculitis, lymphocytic, nodular", "lymphocytic vasculitis", "vasculitis lymphocytic, nodular" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis." }, "child_count": 0, "reference_id": "MONDO:0008640" }, { "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": 9989, "label": "acrogeria", "isLeaf": true, "isRoot": false, "parents": [ 19146, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006543", "ICD9:259.8", "MEDGEN:96063", "MESH:C538187", "NORD:1202", "OMIM:201200", "Orphanet:2500", "SCTID:238872007", "UMLS:C0406584", "icd11.foundation:1607996977" ], "synonyms": [ "Gottron Syndrome", "Gottron syndrome", "acrogeria, Gottron type", "acrometageria", "Metageria", "familial acrogeria" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." }, "child_count": 0, "reference_id": "MONDO:0008716" }, { "id": 10065, "label": "anhidrosis, familial generalized, with abnormal or absent sweat glands", "isLeaf": true, "isRoot": false, "parents": [ 8014, 23867 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:895862", "OMIM:206600", "UMLS:C4225670" ], "synonyms": [ "anhidrosis, familial generalized, with abnormal or absent sweat glands" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008794" }, { "id": 10329, "label": "deafness, congenital, with total albinism", "isLeaf": true, "isRoot": false, "parents": [ 19141, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024647", "MEDGEN:387799", "MESH:C565646", "OMIM:220900", "UMLS:C1857343" ], "synonyms": [ "deafness, congenital, with total albinism" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009081" }, { "id": 10419, "label": "epidermodysplasia verruciformis", "isLeaf": false, "isRoot": false, "parents": [ 6778, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13777", "GARD:0006357", "ICD9:078.19", "ICD9:757.8", "MEDGEN:41831", "MESH:D004819", "MedDRA:10052339", "NANDO:2200768", "NCIT:C126877", "Orphanet:302", "SCTID:19138001", "UMLS:C0014522", "icd11.foundation:1191479808" ], "synonyms": [ "Lewandowsky-Lutz dysplasia", "Lewandowsky-Lutz syndrome", "Lutz-Lewandowsky epidermodysplasia verruciformis", "epidermodysplasia verruciformis", "EV", "ever" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." }, "child_count": 2, "reference_id": "MONDO:0009176" }, { "id": 10544, "label": "combined immunodeficiency with skin granulomas", "isLeaf": true, "isRoot": false, "parents": [ 18070, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112253", "GARD:0013587", "MEDGEN:435945", "MESH:C567115", "OMIM:233650", "Orphanet:157949", "UMLS:C2673536" ], "synonyms": [ "CID due to RAG 1/2 deficiency", "combined immunodeficiency due to RAG 1/2 deficiency", "CCHIDG", "combined cellular and humoral immune defects with granulomas" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009306" }, { "id": 10754, "label": "lipoid proteinosis", "isLeaf": true, "isRoot": false, "parents": [ 4594, 20387, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14498", "GARD:0003268", "ICD9:272.8", "MEDGEN:6112", "MESH:D008065", "NANDO:2200608", "NCIT:C84829", "OMIM:247100", "Orphanet:530", "SCTID:38692000", "UMLS:C0023795", "icd11.foundation:326368380" ], "synonyms": [ "Urbach-Wiethe disease", "hyalinosis cutis et mucosae", "lipid proteinosis", "lipoid proteinosis", "lipoproteinosis", "Urbach Wiethe disease", "hyalinosis cutis Et mucosae", "lipoid proteinosis of Urbach and Wiethe" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications." }, "child_count": 0, "reference_id": "MONDO:0009530" }, { "id": 10799, "label": "neurocutaneous melanocytosis", "isLeaf": true, "isRoot": false, "parents": [ 3049, 6801, 23107, 23867, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007186", "MEDGEN:154259", "MESH:C537387", "NANDO:2200827", "NCIT:C175215", "OMIM:249400", "Orphanet:2481", "UMLS:C0544862", "icd11.foundation:403221860" ], "synonyms": [ "NCM", "neurocutaneous melanosis", "neurocutaneous melanosis, somatic", "NCMS", "Neuromelanosis", "melanosis, neurocutaneous", "neurocutaneous melanosis syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." }, "child_count": 0, "reference_id": "MONDO:0009578" }, { "id": 10965, "label": "neutrophil actin dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027357", "MEDGEN:338036", "MESH:C564942", "NCIT:C3694", "OMIM:257150", "Orphanet:625", "UMLS:C1850380" ], "synonyms": [ "Atypical Nevus", "Clark Nevus", "Clark's Nevus", "Nevus with architectural disorder", "Nevus with architectural disorder and cytologic atypia of melanocytes", "dysplastic Nevus", "dysplastic nevi", "dysplastic nevus", "lentiginous Nevus", "neutrophil actin dysfunction", "NAD" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma." }, "child_count": 0, "reference_id": "MONDO:0009755" }, { "id": 11564, "label": "albinism-hearing loss syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19141, 23164, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000589", "MEDGEN:375573", "MESH:C537042", "OMIM:300700", "Orphanet:998", "SCTID:722285005", "SCTID:74320008", "UMLS:C1845068" ], "synonyms": [ "Woolf's syndrome", "Ziprkowski–Margolis syndrome", "albinism deafness syndrome", "albinism-deafness syndrome", "ADFN", "ALDS", "Woolf syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1." }, "child_count": 0, "reference_id": "MONDO:0010403" }, { "id": 11680, "label": "X-linked reticulate pigmentary disorder", "isLeaf": true, "isRoot": false, "parents": [ 21247, 23867, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111834", "GARD:0016756", "MEDGEN:336844", "MESH:C564461", "OMIM:301220", "Orphanet:85453", "SCTID:717224002", "UMLS:C1845050" ], "synonyms": [ "PDR", "Partington disease", "X-linked cutaneous amyloidosis", "XLPDR", "familial cutaneous amyloidosis", "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive", "amyloidosis, familial cutaneous", "pigmentary disorder, reticulate, with systemic manifestations", "pigmentary disorder, reticulate, with systemic manifestations, X-linked" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." }, "child_count": 0, "reference_id": "MONDO:0010523" }, { "id": 11768, "label": "CHILD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3036, 6801, 16089, 16607, 17598, 19104, 19476, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111822", "GARD:0006039", "ICD9:759.89", "MEDGEN:82697", "MESH:C562515", "NANDO:1200629", "NANDO:2200998", "NANDO:2201358", "NORD:1284", "OMIM:308050", "Orphanet:139", "SCTID:17608003", "UMLS:C0265267" ], "synonyms": [ "CHILD syndrome", "CHILD syndrome, X-linked dominant", "Ichthyosis, CHILD Syndrome", "child nevus", "child syndrome", "congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "congenital hemidysplasia with ichthyosiform nevus and limb defects", "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs", "ichthyosis, child syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." }, "child_count": 0, "reference_id": "MONDO:0010621" }, { "id": 11817, "label": "linear skin defects with multiple congenital anomalies", "isLeaf": false, "isRoot": false, "parents": [ 16704, 19143, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111875", "GARD:0003659", "MESH:C537466", "OMIMPS:309801", "Orphanet:2556", "SCTID:721879006" ], "synonyms": [ "MCOPS7", "MIDAS syndrome", "MLS syndrome", "linear skin defects with multiple congenital anomalies", "linear skin defects with multiple congenital anomalies type 1", "microphthalmia with linear skin defects syndrome", "microphthalmia-dermal aplasia-sclerocornea syndrome", "syndromic microphthalmia type 7", "LSDMCA1", "Micropthalmia syndromic 7", "linear skin defects with multiple congenital anomalies 1", "microphthalmia dermal aplasia and sclerocornea syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." }, "child_count": 9, "reference_id": "MONDO:0010672" }, { "id": 12150, "label": "dermatitis herpetiformis, familial", "isLeaf": true, "isRoot": false, "parents": [ 16408, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001917", "MEDGEN:371361", "MESH:C538218", "OMIM:601230", "UMLS:C1832586" ], "synonyms": [ "dermatitis herpetiformis, familial", "hereditary dermatitis herpetiformis", "Brocq-Duhring disease", "DH", "Duhring Brocq disease", "Duhring's disease" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone." }, "child_count": 0, "reference_id": "MONDO:0011024" }, { "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": 12393, "label": "H syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6195, 7931, 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111278", "GARD:0010239", "MEDGEN:400532", "MESH:C535391", "MESH:C538322", "NANDO:2200457", "OMIM:602782", "Orphanet:168569", "SCTID:711159002", "UMLS:C1864445", "icd11.foundation:107155297" ], "synonyms": [ "Asrar Facharzt Haque syndrome", "H syndrome", "Faisalabad histiocytosis", "HJCD", "Rosai-Dorfman disease, familial", "SLC29A3 spectrum disorder", "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness", "histiocytosis with Joint contractures and sensorineural deafness", "histiocytosis-lymphadenopathy plus syndrome", "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss", "pigmented hypertrichosis with insulin-dependent diabetes mellitus", "sinus histiocytosis and massive lymphadenopathy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." }, "child_count": 0, "reference_id": "MONDO:0011273" }, { "id": 12481, "label": "hydroa vacciniforme, familial", "isLeaf": true, "isRoot": false, "parents": [ 18198, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010079", "MEDGEN:355003", "MESH:C536077", "OMIM:603794", "UMLS:C1863533" ], "synonyms": [ "hereditary hydroa vacciniforme", "hydroa vacciniforme, familial", "familial hydroa vacciniforme" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0011371" }, { "id": 12510, "label": "poikiloderma with neutropenia", "isLeaf": true, "isRoot": false, "parents": [ 16076, 16913, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060551", "GARD:0004085", "MEDGEN:388129", "NANDO:2200749", "NCIT:C177535", "NORD:2022", "OMIM:604173", "Orphanet:221046", "UMLS:C1858723" ], "synonyms": [ "Prurigo Nodularis", "poikiloderma with neutropenia", "poikiloderma with neutropenia, Clericuzio type", "Clericuzio type poikiloderma with neutropenia", "PN", "poikiloderma with neutropenia Clericuzio type", "poikiloderma with neutropenia, Clericuzio-type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." }, "child_count": 0, "reference_id": "MONDO:0011405" }, { "id": 12543, "label": "acne", "isLeaf": false, "isRoot": false, "parents": [ 4496, 8082, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6543", "EFO:0003894", "HP:0001061", "ICD10CM:L70", "ICD10WHO:L70", "ICD9:706.0", "MEDGEN:152379", "MTH:217", "NCIT:C27195", "UMLS:C0702166", "icd11.foundation:1892393023" ], "synonyms": [ "acne", "acne (disease)", "acne varioliformis", "acne vulgaris", "acne, adult" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin." }, "child_count": 3, "reference_id": "MONDO:0011438" }, { "id": 12569, "label": "infundibulocystic basal cell carcinoma", "isLeaf": true, "isRoot": false, "parents": [ 7027, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4279", "GARD:0009788", "MEDGEN:220984", "MESH:C537655", "NCIT:C27540", "OMIM:604451", "UMLS:C1304297" ], "synonyms": [ "skin infundibulocystic basal cell carcinoma", "basal cell carcinoma with follicular differentiation", "basal cell carcinoma, infundibulocystic" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011465" }, { "id": 12600, "label": "Becker nevus syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6801, 19507, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005901", "MEDGEN:347608", "MESH:C565735", "OMIM:604919", "Orphanet:64755", "UMLS:C1858042" ], "synonyms": [ "Becker nevus syndrome", "pigmentary hairy epidermal nevus", "hairy epidermal nevus syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." }, "child_count": 3, "reference_id": "MONDO:0011500" }, { "id": 12701, "label": "generalized basaloid follicular hamartoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017042", "MEDGEN:343009", "MESH:C565284", "OMIM:605827", "Orphanet:168632", "SCTID:766928004", "UMLS:C1853919" ], "synonyms": [ "GBFHS", "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported." }, "child_count": 0, "reference_id": "MONDO:0011605" }, { "id": 13031, "label": "sweet syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7203, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080746", "GARD:0000521", "ICD9:702.8", "MEDGEN:43097", "MESH:D016463", "MedDRA:10000748", "NCIT:C85177", "NORD:1749", "OMIM:608068", "Orphanet:3243", "SCTID:84625002", "UMLS:C0085077", "icd11.foundation:195212152" ], "synonyms": [ "acute febrile neutrophilic dermatosis", "sweet syndrome", "Afnd", "Gomm button disease", "Gomm-button disease", "neutrophilic dermatosis, acute febrile" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." }, "child_count": 0, "reference_id": "MONDO:0011959" }, { "id": 13310, "label": "MEDNIK syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17987, 19131, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060483", "GARD:0017072", "MEDGEN:322893", "MESH:C563739", "OMIM:609313", "Orphanet:171851", "SCTID:722035007", "UMLS:C1836330" ], "synonyms": [ "erythrokeratodermia variabilis 3", "erythrokeratodermia variabilis, Kamouraska type", "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia", "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome", "MEDNIK", "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma", "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." }, "child_count": 0, "reference_id": "MONDO:0012251" }, { "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": 13604, "label": "DK1-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7156, 16878, 17978, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080565", "GARD:0012393", "MEDGEN:332072", "MESH:C563666", "OMIM:610768", "Orphanet:91131", "SCTID:718712005", "UMLS:C1835849" ], "synonyms": [ "CDG syndrome type Im", "CDG-Im", "CDG1M", "DK1-CDG", "DK1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Im", "congenital disorder of glycosylation type 1m", "congenital disorder of glycosylation type Im", "dolichol kinase deficiency", "hypotonia and ichthyosis due to dolichol phosphate deficiency", "CDG Im", "CDGIm", "DOLK-CDG (CDG-Im)", "Dk1 deficiency", "congenital disorder of glycosylation, type Im" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." }, "child_count": 0, "reference_id": "MONDO:0012556" }, { "id": 13617, "label": "body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency", "isLeaf": true, "isRoot": false, "parents": [ 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016796", "MEDGEN:332067", "MESH:C563654", "OMIM:610842", "Orphanet:91135", "SCTID:717941005", "UMLS:C1835813" ], "synonyms": [ "PXE-like syndrome", "pseudoxanthoma elasticum-like syndrome", "PXE-like disorder with multiple coagulation Factor deficiency", "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs." }, "child_count": 0, "reference_id": "MONDO:0012570" }, { "id": 13709, "label": "Legius syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19140, 19507, 19780, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070484", "GARD:0010714", "ICD9:709.09", "MEDGEN:370709", "MESH:C548032", "NCIT:C176941", "OMIM:611431", "Orphanet:137605", "SCTID:703541007", "UMLS:C1969623", "icd11.foundation:1025118245" ], "synonyms": [ "Legius syndrome", "NF1-like syndrome", "neurofibromatosis 1-like syndrome", "neurofibromatosis type 1 like syndrome", "neurofibromatosis type 1-like syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling." }, "child_count": 0, "reference_id": "MONDO:0012669" }, { "id": 14076, "label": "CLOVES syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6801, 19144, 23867, 29234 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080351", "GARD:0010939", "MEDGEN:442876", "MESH:C567863", "NCIT:C177122", "NORD:979", "OMIM:612918", "Orphanet:140944", "SCTID:719475006", "UMLS:C2752042" ], "synonyms": [ "CLOVE syndrome, somatic", "CLOVES syndrome", "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome", "CLOVE syndrome", "congenital lipomatous overgrowth - vascular malformation - epidermal nevi", "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities", "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly." }, "child_count": 0, "reference_id": "MONDO:0013038" }, { "id": 14112, "label": "encephalocraniocutaneous lipomatosis", "isLeaf": true, "isRoot": false, "parents": [ 8054, 19144, 20564, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002108", "ICD9:757.8", "MEDGEN:140807", "MESH:C535736", "NCIT:C4701", "OMIM:613001", "Orphanet:2396", "SCTID:238905009", "UMLS:C0406612", "icd11.foundation:1084215843" ], "synonyms": [ "ECCL", "Fishman syndrome", "Haberland syndrome", "encephalocraniocutaneous lipomatosis", "encephalocraniocutaneous lipomatosis, somatic mosaic" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations." }, "child_count": 0, "reference_id": "MONDO:0013074" }, { "id": 14822, "label": "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218, 19142, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017413", "MEDGEN:482833", "OMIM:614564", "Orphanet:313846", "UMLS:C3281203" ], "synonyms": [ "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome", "FCTCS", "cutaneous telangiectasia and cancer syndrome, familial", "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome", "telangiectasia, cutaneous, and cancer syndrome, familial" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013806" }, { "id": 14824, "label": "Maffucci syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4599, 16218, 19142, 19480, 19507, 21247, 21452, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060221", "GARD:0006958", "MEDGEN:7437", "NCIT:C3213", "NORD:1393", "OMIM:614569", "Orphanet:163634", "SCTID:46041001", "UMLS:C0024454", "icd11.foundation:548780091" ], "synonyms": [ "Chondroplasia angiomatosis", "Dyschondroplasia and cavernous hemangioma", "Maffucci syndrome", "Maffucci type enchondromatosis", "Maffucci's anomalad", "chondrodysplasia with hemangioma", "enchondromatosis with hemangiomata", "hemangiomata with Dyschondroplasia", "Dyschondrodysplasia with hemangiomas", "Kast syndrome", "enchondromatosis with multiple cavernous hemangiomas", "hemangiomatosis Chondrodystrophica", "multiple Angiomas and Endochondromas", "multiple enchondromatosis, Maffucci type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." }, "child_count": 0, "reference_id": "MONDO:0013808" }, { "id": 15314, "label": "hereditary sclerosing poikiloderma with tendon and pulmonary involvement", "isLeaf": true, "isRoot": false, "parents": [ 6815, 16913, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013218", "MEDGEN:816655", "OMIM:615704", "Orphanet:221043", "UMLS:C3810325", "icd11.foundation:1585528459" ], "synonyms": [ "POIKTMP syndrome", "POIKTMP", "hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis", "hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome", "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis", "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." }, "child_count": 0, "reference_id": "MONDO:0014310" }, { "id": 15357, "label": "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis", "isLeaf": true, "isRoot": false, "parents": [ 19131, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016014", "MEDGEN:862830", "OMIM:615821", "Orphanet:476096", "UMLS:C4014393" ], "synonyms": [ "EKC syndrome", "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis", "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis", "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis", "erythrokeratodermia-cardiomyopathy syndrome", "DCWHKTA" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014355" }, { "id": 15746, "label": "skin creases, congenital symmetric circumferential, 2", "isLeaf": true, "isRoot": false, "parents": [ 9316, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112243", "GARD:0016156", "MEDGEN:902880", "OMIM:616734", "UMLS:C4225225" ], "synonyms": [ "CSCSC2", "MAPRE2 multiple benign circumferential skin creases on limbs", "multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2", "skin creases, congenital symmetric circumferential, 2", "skin creases, congenital symmetric circumferential, 2; CSCSC2", "skin creases, congenital symmetric circumferential, type 2", "symmetric circumferential skin creases, congenital, 2" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014755" }, { "id": 15855, "label": "nevus comedonicus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013073", "MEDGEN:75592", "NCIT:C3946", "OMIM:617025", "Orphanet:64754", "SCTID:35962006", "UMLS:C0265987" ], "synonyms": [ "Nevus comedonicus", "acne Nevus", "acneiform Nevus", "comedo Nevus", "nevus comedonicus, somatic", "pilosebaceous nevoid disorder", "NC", "NEVUS comedonicus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood." }, "child_count": 0, "reference_id": "MONDO:0014873" }, { "id": 15867, "label": "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017895", "MEDGEN:934712", "OMIM:617051", "Orphanet:488627", "UMLS:C4310745" ], "synonyms": [ "MRT55", "intellectual disability, autosomal recessive 55", "intellectual disability, autosomal recessive type 55", "mental retardation, autosomal recessive 55", "mental retardation, autosomal recessive type 55", "neurodevelopmental disorder with microcephaly and gray sclerae", "neurodevelopmental disorder with microcephaly and grey sclerae" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014886" }, { "id": 16161, "label": "chronic mucocutaneous candidiasis", "isLeaf": false, "isRoot": false, "parents": [ 5658, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2058", "GARD:0001077", "HP:0002728", "MEDGEN:2426", "MESH:D002178", "MedDRA:10009007", "NANDO:1200363", "NANDO:2200764", "NCIT:C34444", "OMIMPS:114580", "Orphanet:1334", "SCTID:234568006", "UMLS:C0006845", "icd11.foundation:2120780687" ], "synonyms": [ "CANDF", "CMC", "chronic mucocutaneous candidiasis", "chronic mucocutaneous candidiasis (disease)", "familial CMC", "familial candidiasis", "familial chronic mucocutaneous candidiasis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 24, "reference_id": "MONDO:0015279" }, { "id": 16174, "label": "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6801, 17900, 19480, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019881", "MEDGEN:1637405", "Orphanet:137608", "SCTID:763867001", "UMLS:C4706610" ], "synonyms": [ "SOLAMEN syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer." }, "child_count": 0, "reference_id": "MONDO:0015293" }, { "id": 16507, "label": "hereditary mucosal leukokeratosis", "isLeaf": false, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050448", "GARD:0008501", "ICD9:528.6", "MEDGEN:328433", "MESH:D053529", "NCIT:C84760", "OMIMPS:193900", "Orphanet:171723", "SCTID:389203001", "UMLS:C1721005" ], "synonyms": [ "White sponge nevus of Cannon", "hereditary mucosal leukokeratosis", "white sponge nevus", "white sponge nevus of Cannon" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or grayish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." }, "child_count": 4, "reference_id": "MONDO:0015748" }, { "id": 16624, "label": "inherited ichthyosis", "isLeaf": false, "isRoot": false, "parents": [ 19130, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020261", "ICD10CM:Q80", "ICD9:757.1", "MEDGEN:797407", "MedDRA:10021202", "NANDO:1200609", "NANDO:2100283", "Orphanet:183435", "SCTID:13059002", "UMLS:C0856562" ], "synonyms": [ "congenital ichthyosis of skin", "genetic ichthyosis", "hereditary ichthyosis (disease)", "inherited genetic ichthyosis", "congenital ichthyosis", "fish scale disease", "fish skin", "ichthyosis congenita" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome." }, "child_count": 26, "reference_id": "MONDO:0015947" }, { "id": 16625, "label": "hereditary photodermatosis", "isLeaf": false, "isRoot": false, "parents": [ 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020277", "MEDGEN:1842494", "Orphanet:183490", "UMLS:C5679594" ], "synonyms": [ "photogenodermatosis", "photogénodermatose", "genetic photosensitivity", "genetic skin photosensitivity" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies." }, "child_count": 6, "reference_id": "MONDO:0015951" }, { "id": 16696, "label": "Cowden disease", "isLeaf": false, "isRoot": false, "parents": [ 2903, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6457", "GARD:0006202", "MEDGEN:5420", "MESH:D006223", "MedDRA:10051906", "NANDO:2200918", "NCIT:C3076", "OMIMPS:158350", "Orphanet:201", "SCTID:58037000", "UMLS:C0018553" ], "synonyms": [ "Cowden disease", "Cowden syndrome", "Cowden's disease", "multiple hamartoma syndrome", "CD", "MHAM", "dysplastic gangliocytoma of cerebellum" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group." }, "child_count": 16, "reference_id": "MONDO:0016063" }, { "id": 16703, "label": "juvenile hyaline fibromatosis", "isLeaf": true, "isRoot": false, "parents": [ 4409, 7941, 10472, 18958, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016583", "ICD9:733.29", "MEDGEN:411197", "NCIT:C98297", "Orphanet:2028", "SCTID:238861002", "UMLS:C2745948", "icd11.foundation:1890146024" ], "synonyms": [ "Molluscum fibrosum", "Murray-Puretic-Drescher syndrome", "Puretic syndrome", "mesenchymal dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis." }, "child_count": 0, "reference_id": "MONDO:0016071" }, { "id": 17539, "label": "osteopathia striata-pigmentary dermopathy-white forelock syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005562", "MEDGEN:419711", "MESH:C536054", "Orphanet:2779", "UMLS:C2931096" ], "synonyms": [ "Whyte-Murphy syndrome", "Whyte Murphy syndrome", "osteopathia striata associated with familial dermopathy and white forelock", "osteopathia striata with pigmentary dermopathy including white forelock" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock." }, "child_count": 0, "reference_id": "MONDO:0017197" }, { "id": 17626, "label": "syndromic oculocutaneous albinism", "isLeaf": false, "isRoot": false, "parents": [ 4370, 18283, 19141, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021125", "MEDGEN:1843078", "Orphanet:284811", "UMLS:C5681016" ], "synonyms": [ "syndrome associated with oculocutaneous albinism", "syndromic oculocutaneous albinism" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A oculocutaneous albinism that is part of a larger syndrome." }, "child_count": 16, "reference_id": "MONDO:0017305" }, { "id": 17636, "label": "phakomatosis pigmentokeratotica", "isLeaf": true, "isRoot": false, "parents": [ 3049, 6801, 19507, 23107, 23867, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004311", "MEDGEN:419860", "MESH:C537893", "Orphanet:2874", "SCTID:723455009", "UMLS:C2931658", "icd11.foundation:960559196" ], "synonyms": [ "Phacomatosis pigmentokeratotica", "organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." }, "child_count": 0, "reference_id": "MONDO:0017317" }, { "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": 18001, "label": "lamellar ichthyosis", "isLeaf": false, "isRoot": false, "parents": [ 7019, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010803", "ICD10CM:Q80.2", "MEDGEN:1852191", "MedDRA:10023686", "NANDO:1200617", "NCIT:C84805", "NORD:1289", "Orphanet:313", "UMLS:C5848247", "icd11.foundation:600146417" ], "synonyms": [ "LI", "classic lamellar ichthyosis", "congenital lamellar ichthyosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." }, "child_count": 12, "reference_id": "MONDO:0017778" }, { "id": 18008, "label": "PENS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013447", "MEDGEN:1654469", "Orphanet:313936", "UMLS:C4749916" ], "synonyms": [ "papular epidermal nevi with skyline basal cell layers syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." }, "child_count": 0, "reference_id": "MONDO:0017785" }, { "id": 18233, "label": "familial multiple fibrofolliculoma", "isLeaf": true, "isRoot": false, "parents": [ 16218, 20564, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003831", "Orphanet:338", "SCTID:723361006" ], "synonyms": [ "multiple fibrofolliculoma familial" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far." }, "child_count": 0, "reference_id": "MONDO:0018070" }, { "id": 18307, "label": "autosomal recessive cutis laxa type 2A", "isLeaf": false, "isRoot": false, "parents": [ 19378, 23867, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070134", "GARD:0001638", "MEDGEN:82795", "OMIM:219200", "Orphanet:357058", "UMLS:C0268355" ], "synonyms": [ "ARCL2A", "autosomal recessive cutis laxa type 2A", "cutis laxa with Joint laxity and retarded development", "cutis laxa with bone dystrophy", "cutis laxa with congenital disorder of glycosylation", "cutis laxa with growth and developmental delay", "cutis laxa, autosomal recessive type 2A", "cutis laxa, autosomal recessive, type 2A", "cutis laxa, autosomal recessive, type IIA", "cutis laxa, debre type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." }, "child_count": 3, "reference_id": "MONDO:0018163" }, { "id": 18767, "label": "familial chilblain lupus", "isLeaf": false, "isRoot": false, "parents": [ 19364, 21247, 23867, 25666 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017874", "MEDGEN:1807766", "OMIMPS:610448", "Orphanet:481662", "UMLS:C5688224" ], "synonyms": [ "hereditary Chilblain lupus", "hereditary chilblain lupus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." }, "child_count": 8, "reference_id": "MONDO:0018827" }, { "id": 18787, "label": "familial keratoacanthoma", "isLeaf": true, "isRoot": false, "parents": [ 4596, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018693", "MEDGEN:1843863", "Orphanet:493", "SCTID:716774008", "UMLS:C5848325" ], "synonyms": [ "hereditary keratoacanthoma", "multiple keratoacanthoma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0018851" }, { "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": 18821, "label": "Cobb syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3493, 5091, 16218, 19142, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0011892", "ICD9:239.2", "MEDGEN:91079", "MedDRA:10068841", "NCIT:C4485", "Orphanet:53721", "SCTID:254774003", "UMLS:C0346068", "icd11.foundation:1451924695" ], "synonyms": [ "Cobb's syndrome", "SAMS 1-31", "cutaneomeningospinal angiomatosis", "spinal arteriovenous metameric syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution." }, "child_count": 0, "reference_id": "MONDO:0018893" }, { "id": 18837, "label": "oculocutaneous albinism", "isLeaf": false, "isRoot": false, "parents": [ 18283, 19141, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050632", "GARD:0010958", "ICD10CM:E70.32", "ICD9:270.2", "MEDGEN:36250", "MESH:D016115", "NANDO:1200637", "NANDO:1200641", "NANDO:2200986", "NCIT:C84941", "NORD:1522", "OMIMPS:203100", "Orphanet:55", "SCTID:63844009", "UMLS:C0078918", "icd11.foundation:1189424097" ], "synonyms": [ "OCA", "non-syndromic oculocutaneous albinism", "nonsyndromic oculocutaneous albinism", "albinism, oculocutaneous" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7." }, "child_count": 27, "reference_id": "MONDO:0018910" }, { "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": 19138, "label": "ectodermal dysplasia syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 20277, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2121", "GARD:0006317", "ICD9:757.31", "MEDGEN:8544", "MESH:D004476", "MedDRA:10010452", "NCIT:C84683", "OMIMPS:305100", "Orphanet:79373", "SCTID:8654005", "UMLS:C0013575", "icd11.foundation:1156567558" ], "synonyms": [ "ectodermal dysplasia", "ectodermal dysplasia (select examples)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." }, "child_count": 360, "reference_id": "MONDO:0019287" }, { "id": 19300, "label": "subcutaneous panniculitis-like T-cell lymphoma", "isLeaf": true, "isRoot": false, "parents": [ 3028, 6569, 16568, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070662", "EFO:1000552", "GARD:0010193", "ICD10CM:C86.3", "ICD9:202.70", "ICDO:9708/3", "MEDGEN:99306", "MESH:C537503", "NANDO:2200030", "NCIT:C6918", "OMIM:618398", "ONCOTREE:SPTCL", "Orphanet:86884", "SCTID:404133000", "UMLS:C0522624", "icd11.foundation:1550338805" ], "synonyms": [ "SPTCL", "subcutaneous panniculitic T-cell lymphoma", "subcutaneous panniculitis-like T-cell lymphoma", "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)", "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type", "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." }, "child_count": 0, "reference_id": "MONDO:0019475" }, { "id": 19413, "label": "hereditary angioedema", "isLeaf": false, "isRoot": false, "parents": [ 11639, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14735", "GARD:0005979", "MEDGEN:9229", "MESH:D054179", "MedDRA:10019860", "NANDO:1200365", "NANDO:2200795", "NCIT:C84758", "OMIMPS:106100", "Orphanet:91378", "SCTID:82966003", "UMLS:C0019243", "icd11.foundation:795969334" ], "synonyms": [ "HAE", "familial angioneurotic edema", "familial angioneurotic oedema", "hereditary angioedema", "hereditary angioneurotic edema", "hereditary angioneurotic oedema", "hereditary bradykinine-induced angioedema", "hereditary non histamine-induced angioedema", "angioedema, hereditary", "deficiency of C1 esterase inhibitor" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." }, "child_count": 20, "reference_id": "MONDO:0019623" }, { "id": 19731, "label": "hereditary lipodystrophy", "isLeaf": false, "isRoot": false, "parents": [ 8053, 18954, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012597", "MEDGEN:1383706", "Orphanet:98305", "SCTID:724841000", "UMLS:C4511302", "icd11.foundation:1166232738" ], "synonyms": [ "genetic lipodystrophy", "genetic lipodystrophy (disease)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An instance of lipodystrophy that is caused by an inherited genomic modification in an individual." }, "child_count": 33, "reference_id": "MONDO:0020087" }, { "id": 20038, "label": "X-linked chondrodysplasia punctata 2", "isLeaf": true, "isRoot": false, "parents": [ 11710, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080352", "GARD:0006189", "MEDGEN:79381", "NANDO:1200630", "NANDO:2201357", "NORD:1005", "OMIM:302960", "Orphanet:35173", "UMLS:C0282102" ], "synonyms": [ "CDPX2", "CDPXD", "Conrad Hunermann Happle syndrome", "Conradi Hunermann syndrome", "Conradi Hünermann Syndrome", "Conradi-Hunermann syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "EBP chondrodysplasia punctata", "Happle syndrome", "X-linked chondrodysplasia punctata type 2", "chondrodysplasia punctata 2 X-linked dominant", "chondrodysplasia punctata 2, X-linked dominant", "chondrodysplasia punctata caused by mutation in EBP", "chondrodysplasia punctata, X-linked dominant, X-linked dominant" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." }, "child_count": 0, "reference_id": "MONDO:0020603" }, { "id": 20142, "label": "multiple benign circumferential skin creases on limbs 1", "isLeaf": true, "isRoot": false, "parents": [ 9316, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112242", "GARD:0025231", "MEDGEN:1631916", "OMIM:156610", "UMLS:C4551592" ], "synonyms": [ "symmetric circumferential skin creases, congenital, 1", "CSCSC1", "skin creases, congenital symmetric circumferential, 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0020738" }, { "id": 20679, "label": "lentigo", "isLeaf": true, "isRoot": false, "parents": [ 23867 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:7301", "MESH:D007911", "NCIT:C3159", "OMIM:150900", "SCTID:402624000", "UMLS:C0023321" ], "synonyms": [ "lentigines", "lentiginosis", "lentigo" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy." }, "child_count": 0, "reference_id": "MONDO:0021582" }, { "id": 21462, "label": "familial acne inversa", "isLeaf": false, "isRoot": false, "parents": [ 8042, 23867 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:326766", "OMIMPS:142690", "UMLS:C1840560" ], "synonyms": [ "ACNINV", "familial hidradenitis suppurativa", "hereditary hidradenitis suppurativa" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome." }, "child_count": 6, "reference_id": "MONDO:0024516" }, { "id": 23108, "label": "familial acanthosis nigricans", "isLeaf": true, "isRoot": false, "parents": [ 8454, 23867 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419638", "MESH:C531598", "OMIM:100600", "UMLS:C2930792" ], "synonyms": [ "hereditary acanthosis nigricans (disease)", "acanthosis nigricans" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0043003" }, { "id": 23445, "label": "large congenital melanocytic nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111359", "GARD:0002469", "ICDO:8761/1", "MEDGEN:330752", "MedDRA:10072036", "NCIT:C3944", "NCIT:C4234", "NORD:1184", "OMIM:137550", "ONCOTREE:SKCN", "Orphanet:626", "SCTID:254815002", "SCTID:398696001", "UMLS:C1842036", "icd11.foundation:618273329" ], "synonyms": [ "Giant Congenital Melanocytic Nevus", "bathing trunk nevus", "congenital melanocytic nevi", "congenital melanocytic nevus", "congenital melanocytic nevus of skin", "congenital melanocytic nevus of the skin", "congenital nevus of skin", "congenital nevus of the skin", "congenital pigmented melanocytic Nevus", "congenital pigmented nevus of skin", "congenital pigmented nevus of the skin", "congenital pigmented skin nevus", "congenital skin nevus", "giant congenital nevus", "giant pigmented hairy nevus", "giant pigmented nevus of skin", "giant pigmented nevus of the skin", "large congenital melanocytic nevus", "melanocytic nevus syndrome, congenital, somatic", "spitz nevus or nevus spilus, somatic", "CMNS", "GPHN", "congenital giant pigmented nevus", "congenital hairy nevus", "congenital nevus", "giant congenital melanocytic nevus", "giant congenital pigmented Nevus", "giant hairy nevus", "giant pigmented nevus", "melanocytic nevus syndrome, congenital", "nevus spilus", "pigmented moles", "spitz nevus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." }, "child_count": 0, "reference_id": "MONDO:0044792" }, { "id": 23989, "label": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4599, 18819, 18954, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111063", "GARD:0010879", "MEDGEN:360297", "NCIT:C131851", "Orphanet:306661", "UMLS:C1876187" ], "synonyms": [ "HHS", "HFTC", "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome", "hypercalcemic tumoral calcinosis", "hyperphosphatemic familial tumoral calcinosis", "tumoral calcinosis, hyperphosphatemic, familial, 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0100251" }, { "id": 25482, "label": "inflammatory poikiloderma with hair abnormalities and acral keratoses", "isLeaf": true, "isRoot": false, "parents": [ 16913, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070510", "GARD:0026711", "MEDGEN:1824066", "OMIM:620199", "UMLS:C5774293" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859355" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 6820, "label": "skin disorder" } ] }