{ "id": 17917, "label": "diffuse palmoplantar keratoderma", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0017666", "properties": { "xrefs": [ "GARD:0021289", "HP:0007435", "ICD9:757.39", "MEDGEN:7201", "Orphanet:307141", "SCTID:400123002", "UMLS:C0022584", "icd11.foundation:1259583500" ], "synonyms": [ "diffuse PPK", "diffuse keratosis palmoplantaris", "diffuse palmoplantar hyperkeratosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality." }, "isLeaf": false, "isRoot": false, "child_count": 32, "parents": [ { "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" } ], "children": [ { "id": 8496, "label": "autosomal dominant palmoplantar keratoderma and congenital alopecia", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111244", "GARD:0000604", "MEDGEN:930338", "OMIM:104100", "Orphanet:1010", "SCTID:719518004", "UMLS:C4304669", "icd11.foundation:1745113656" ], "synonyms": [ "PPK-CA, Stevanovic type", "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia", "palmoplantar keratoderma and congenital alopecia type 1", "palmoplantar keratoderma and congenital alopecia, Stevanovic type", "palmoplantar keratoderma with congenital alopecia", "PPKCA1", "Ppkca, Stevanovic type", "alopecia congenita with hyperkeratosis of the palms and soles", "keratoderma-hypotrichosis-leukonychia totalis syndrome", "palmoplantar keratoderma and congenital alopecia 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." }, "child_count": 0, "reference_id": "MONDO:0007083" }, { "id": 8835, "label": "dermatopathia pigmentosa reticularis", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138, 19140 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111342", "GARD:0008550", "MEDGEN:98037", "MESH:C535374", "OMIM:125595", "Orphanet:86920", "SCTID:239088003", "UMLS:C0406778" ], "synonyms": [ "dermatopathia pigmentosa reticularis", "DPR" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007445" }, { "id": 8893, "label": "Clouston syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14693", "GARD:0002056", "MEDGEN:56416", "OMIM:129500", "Orphanet:189", "SCTID:54209007", "UMLS:C0162361" ], "synonyms": [ "Clouston syndrome", "hidrotic ectodermal dysplasia", "Clouston hidrotic ectodermal dysplasia", "ED2", "Patel Bixler syndrome", "alopecia, dysplastic nails, palmar and plantar hyperkeratosis", "autosomal dominant hidrotic ectodermal dysplasia", "ectodermal dysplasia 2, Clouston type", "ectodermal dysplasia, hidrotic", "ectodermal dysplasia, hidrotic, 2", "ectodermal dysplasia, hidrotic, 2, formerly", "ectodermal dysplasia, hidrotic, autosomal dominant", "hidrotic ectodermal dysplasia, autosomal dominant", "palmoplantar hyperkeratosis and alopecia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." }, "child_count": 0, "reference_id": "MONDO:0007510" }, { "id": 9108, "label": "epidermolytic palmoplantar keratoderma, 1", "isLeaf": true, "isRoot": false, "parents": [ 17917, 25959 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070552", "GARD:0002826", "ICD9:757.39", "NCIT:C84693", "OMIM:144200", "Orphanet:2199", "SCTID:399955009" ], "synonyms": [ "EPPK", "diffuse erythrodermic palmoplantar keratoderma, VC6rner type", "diffuse erythrodermic palmoplantar keratoderma, Voerner type", "epidermolytic palmoplantar keratoderma of VC6rner", "epidermolytic palmoplantar keratoderma of Voerner", "Ppke", "diffuse erythrodermic palmoplantar keratoderma, Vörner type", "epidermolytic palmoplantar keratoderma of Vörner", "hyperkeratosis palmoplantar localised epidermolytic", "hyperkeratosis palmoplantar localized epidermolytic", "hyperkeratosis, localised epidermolytic", "hyperkeratosis, localized epidermolytic", "keratoderma, epidermolytic palmoplantar", "keratosis of Greither", "keratosis palmaris Et plantaris Familiaris", "palmoplantar keratoderma, Vorner type", "palmoplantar keratoderma, epidermolytic", "palmoplantar keratoderma, epidermolytic, with knuckle pads", "tylosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." }, "child_count": 0, "reference_id": "MONDO:0007758" }, { "id": 9188, "label": "palmoplantar keratoderma-deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111505", "GARD:0003094", "MEDGEN:332030", "MESH:C536152", "OMIM:148350", "Orphanet:2202", "UMLS:C1835672" ], "synonyms": [ "PPK-deafness syndrome", "palmoplantar hyperkeratosis-deafness syndrome", "palmoplantar hyperkeratosis-hearing loss syndrome", "palmoplantar keratoderma-hearing loss syndrome", "diffuse palmoplantar keratoderma with deafness (subtype)", "focal palmoplantar keratoderma with sensorineural deafness (subtype)", "hereditary palmoplantar keratoderma with deafness (subtype)", "keratoderma palmoplantar deafness", "keratoderma palmoplantar, with deafness", "keratoderma, palmoplantar, with deafness", "palmoplantar keratoderma and sensorineural deafness" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance." }, "child_count": 0, "reference_id": "MONDO:0007852" }, { "id": 9189, "label": "palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017977", "MEDGEN:322722", "MESH:C536153", "OMIM:148360", "Orphanet:538574", "UMLS:C1835671" ], "synonyms": [ "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy", "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy", "axonal neuropathy with palmoplantar keratoderma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 2, "reference_id": "MONDO:0007853" }, { "id": 9193, "label": "keratosis palmaris et plantaris-clinodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016766", "MEDGEN:320656", "MESH:C563646", "OMIM:148520", "Orphanet:86919", "UMLS:C1835663" ], "synonyms": [ "palmoplantar keratoderma-clinodactyly syndrome", "keratosis palmaris ET plantaris with clinodactyly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007857" }, { "id": 9202, "label": "Bart-Pumphrey syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050658", "GARD:0003125", "ICD9:759.89", "MEDGEN:82727", "MESH:C537210", "OMIM:149200", "Orphanet:2698", "SCTID:1271009", "UMLS:C0266004" ], "synonyms": [ "Bart-Pumphrey syndrome", "knuckle pads, leukonychia, and sensorineural deafness", "knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome", "knuckle pads, leuconychia and sensorineural deafness", "knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007866" }, { "id": 9382, "label": "Naegeli-Franceschetti-Jadassohn syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138, 19140 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111528", "GARD:0003912", "MEDGEN:91010", "MESH:C538331", "OMIM:161000", "Orphanet:69087", "SCTID:239084001", "UMLS:C0343111", "icd11.foundation:352035640" ], "synonyms": [ "NFJ syndrome", "Naegeli syndrome", "Naegeli-Franceschetti-Jadassohn syndrome", "NAEGELI syndrome", "NAEGELI-Franceschetti-Jadassohn syndrome", "NFJS", "Nfj syndrome", "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." }, "child_count": 0, "reference_id": "MONDO:0008059" }, { "id": 9711, "label": "palmoplantar keratoderma-sclerodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008517", "ICD9:757.39", "MEDGEN:98360", "MESH:C537526", "OMIM:181600", "Orphanet:384", "SCTID:239076000", "UMLS:C0406767" ], "synonyms": [ "Huriez syndrome", "Scleroatrophic syndrome", "Sclerotylosis", "palmoplantar hyperkeratosis-sclerodactyly syndrome", "HRZ", "HURIEZ syndrome", "SCLEROTYLOSIS", "Scleroatrophic and keratotic dermatosis of limbs", "Tys", "atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008416" }, { "id": 10186, "label": "autosomal recessive palmoplantar keratoderma and congenital alopecia", "isLeaf": true, "isRoot": false, "parents": [ 7611, 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111245", "GARD:0001139", "MEDGEN:347851", "MESH:C535336", "OMIM:212360", "Orphanet:1366", "UMLS:C1859316", "icd11.foundation:1733151457" ], "synonyms": [ "PPK-CA, Wallis type", "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia", "cataract-alopecia-sclerodactyly syndrome", "palmoplantar keratoderma and congenital alopecia type 2", "palmoplantar keratoderma and congenital alopecia, Wallis type", "PPKCA2", "Ppkca, Wallis type", "cass", "cataract, alopecia, sclerodactyly", "cataract, alopecia, sclerodactyly syndrome", "palmoplantar keratoderma and congenital alopecia 2" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." }, "child_count": 0, "reference_id": "MONDO:0008923" }, { "id": 10389, "label": "Schöpf-Schulz-Passarge syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 17917, 24086 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111647", "GARD:0016649", "ICD9:758.89", "MEDGEN:347366", "MESH:C565607", "OMIM:224750", "Orphanet:50944", "SCTID:700062000", "UMLS:C1857069" ], "synonyms": [ "SSPS", "eccrine tumors-ectodermal dysplasia", "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome", "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome", "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome", "SCHOPF-Schulz-Passarge syndrome", "SChöPF-Schulz-Passarge syndrome", "eccrine tumors with ectodermal dysplasia", "eccrine tumours with ectodermal dysplasia", "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." }, "child_count": 0, "reference_id": "MONDO:0009145" }, { "id": 10715, "label": "hereditary palmoplantar keratoderma, Gamborg-Nielsen type", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016767", "MESH:C565454", "OMIM:244850", "Orphanet:86923", "SCTID:717228004" ], "synonyms": [ "PPK, Gamborg-Nielsen type", "hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type", "PPKNR", "palmoplantar keratoderma, Norrbotten recessive type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009489" }, { "id": 10716, "label": "Papillon-Lefevre disease", "isLeaf": true, "isRoot": false, "parents": [ 4686, 7611, 16630, 17917, 17972, 25051 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3389", "GARD:0003100", "ICD9:759.89", "MEDGEN:45306", "MESH:D010214", "NCIT:C84992", "NORD:1552", "OMIM:245000", "Orphanet:678", "SCTID:40158001", "UMLS:C0030360" ], "synonyms": [ "PLS", "Papillon Lefèvre Syndrome", "keratosis palmoplantar-periodontopathy syndrome", "Keratoris palmoplantaris with periodontopathia", "PALS", "PAPILLON-Lefevre syndrome", "Papillon-LEFèvre syndrome", "Pls", "hyperkeratosis palmoplantaris with periodontosis", "keratosis palmoplantar - periodontopathy", "keratosis palmoplantaris with periodontopathia", "palmar-plantar hyperkeratosis and concomitant periodontal destruction", "palmoplantar keratoderma with periodontosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." }, "child_count": 0, "reference_id": "MONDO:0009490" }, { "id": 10717, "label": "Haim-Munk syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 17917, 17972, 25051 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000044", "MEDGEN:344539", "MESH:C537627", "NORD:1212", "OMIM:245010", "Orphanet:2342", "SCTID:719973009", "UMLS:C1855627" ], "synonyms": [ "Haim-Munk syndrome", "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome", "palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome", "palmoplantar keratoderma-periodontopathia-onychogryposis syndrome", "Cochin Jewish disorder", "HAIM-Munk syndrome", "HMS", "keratosis palmoplantaris with periodontopathia and onychogryposis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis." }, "child_count": 0, "reference_id": "MONDO:0009491" }, { "id": 10774, "label": "mal de Meleda", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060862", "GARD:0000092", "ICD9:757.39", "MEDGEN:7522", "NORD:1428", "OMIM:248300", "Orphanet:87503", "SCTID:239069005", "UMLS:C0025221", "icd11.foundation:1850911834" ], "synonyms": [ "Meleda Disease", "Meleda disease", "keratosis palmoplantaris transgrediens of Siemens", "mal de Meleda", "MAL DE Meleda", "MDM", "keratosis palmoplantaris transgradiens of Siemens" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema." }, "child_count": 0, "reference_id": "MONDO:0009552" }, { "id": 10983, "label": "odonto-onycho-dermal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 7611, 17917, 24086 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004054", "MEDGEN:208666", "MESH:C537742", "OMIM:257980", "Orphanet:2721", "SCTID:403762003", "UMLS:C0796093", "icd11.foundation:1256237872" ], "synonyms": [ "ectodermal dysplasia", "OODD", "odontoonychodermal dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." }, "child_count": 0, "reference_id": "MONDO:0009773" }, { "id": 11984, "label": "palmoplantar keratoderma, Bothnian type", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111707", "GARD:0001862", "MEDGEN:325011", "OMIM:600231", "Orphanet:2337", "UMLS:C1838359" ], "synonyms": [ "palmoplantar keratoderma, Bothnian type", "PPKB" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010849" }, { "id": 12091, "label": "diffuse nonepidermolytic palmoplantar keratoderma", "isLeaf": true, "isRoot": false, "parents": [ 2903, 17917 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050428", "DOID:0070550", "GARD:0005186", "MEDGEN:371463", "OMIM:600962", "Orphanet:496", "Orphanet:530838", "SCTID:716105001", "UMLS:C1833030" ], "synonyms": [ "KRT1-related diffuse nonepidermolytic keratoderma", "NEPPK", "diffuse nonepidermolytic palmoplantar keratoderma", "diffuse palmoplantar keratoderma, Bothnian type", "non-epidermolytic palmoplantar keratoderma", "nonepidermolytic palmoplantar keratoderma", "palmoplantar keratoderma, nonepidermolytic", "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type", "PPK diffusa circumscripta", "PPKNE", "Thost-Unna disease", "Thost-Unna palmoplantar keratoderma", "Thost-Unna syndrome", "Unna-Thost palmoplantar keratoderma", "Unna-Thost syndrome", "diffuse NEPPK", "keratoderma, nonepidermolytic palmoplantar", "tylosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis." }, "child_count": 0, "reference_id": "MONDO:0010962" }, { "id": 12501, "label": "loricrin keratoderma", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016719", "MEDGEN:395099", "MESH:C565826", "OMIM:604117", "Orphanet:79395", "SCTID:717183001", "UMLS:C1858805" ], "synonyms": [ "Camisa disease", "Vohwinkel syndrome with ichthyosis", "keratoderma hereditarium mutilans with ichthyosis", "keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome", "loricrin keratoderma", "Vohwinkel syndrome, variant form", "mutilating keratoderma with ichthyosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission." }, "child_count": 0, "reference_id": "MONDO:0011396" }, { "id": 12959, "label": "skin fragility-woolly hair-palmoplantar keratoderma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005231", "MEDGEN:1659950", "MESH:C564359", "OMIM:607655", "Orphanet:293165", "UMLS:C4755263" ], "synonyms": [ "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome", "SFWHS", "skin fragility woolly hair syndrome", "skin fragility wooly hair syndrome", "skin fragility-woolly hair syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011882" }, { "id": 12960, "label": "Curly hair - acral keratoderma - caries syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010163", "MEDGEN:335923", "MESH:C536220", "OMIM:607656", "Orphanet:307766", "UMLS:C1843291" ], "synonyms": [ "CHACS", "Chac syndrome", "Curly hair - acral keratoderma - caries syndrome", "Chacs" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." }, "child_count": 0, "reference_id": "MONDO:0011883" }, { "id": 13347, "label": "CEDNIK syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 17917 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060337", "GARD:0009940", "MEDGEN:332113", "MESH:C537943", "OMIM:609528", "Orphanet:66631", "SCTID:722385008", "UMLS:C1836033" ], "synonyms": [ "CEDNIK syndrome", "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome", "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." }, "child_count": 0, "reference_id": "MONDO:0012290" }, { "id": 13578, "label": "palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 17857, 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016733", "MEDGEN:461281", "MESH:C567165", "OMIM:610644", "Orphanet:85112", "UMLS:C3149931" ], "synonyms": [ "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal", "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome", "palmoplantar hyperkeratosis and true hermaphroditism", "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown." }, "child_count": 0, "reference_id": "MONDO:0012530" }, { "id": 15098, "label": "corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19762 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017525", "MEDGEN:815206", "OMIM:615225", "OMIM:616964", "Orphanet:352662", "UMLS:C3808876" ], "synonyms": [ "MSPC", "palmoplantar carcinoma, multiple self-healing", "palmoplantar carcinoma, multiple self-healing; MSPC", "CIDED", "corneal intraepithelial dyskeratosis and ectodermal dysplasia", "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0014089" }, { "id": 15138, "label": "hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017562", "MEDGEN:815490", "OMIM:615328", "Orphanet:363523", "UMLS:C3809160" ], "synonyms": [ "SHAHEEN syndrome", "SHNS" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014131" }, { "id": 15277, "label": "palmoplantar keratoderma, Nagashima type", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070555", "GARD:0016967", "MEDGEN:816402", "OMIM:615598", "Orphanet:140966", "SCTID:722205008", "UMLS:C3810072" ], "synonyms": [ "PPK, Nagashima type", "palmoplantar hyperkeratosis, Nagashima type", "palmoplantar keratoderma, Nagashima type", "PPKN" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda." }, "child_count": 0, "reference_id": "MONDO:0014272" }, { "id": 18067, "label": "erythrokeratodermia variabilis", "isLeaf": false, "isRoot": false, "parents": [ 17917, 19131 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050467", "GARD:0016528", "MEDGEN:75587", "MESH:C536154", "MESH:D056266", "MedDRA:10049048", "NCIT:C84696", "NORD:1285", "OMIMPS:133200", "Orphanet:308166", "Orphanet:316", "Orphanet:317", "SCTID:70041004", "UMLS:C0265961", "icd11.foundation:551200965" ], "synonyms": [ "Darier-Gottron disease", "EKV", "Ichthyosis, Erythrokeratodermia Variabilis", "erythrokeratodermia progressiva symmetrica", "erythrokeratodermia variabilis", "erythrokeratodermia variabilis, Mendes da Costa type", "progressive symmetric erythrokeratodermia", "progressive symmetric erythrokeratodermia, Gottron type", "EKVP", "erythrokeratodermia figurata, congenital familial, in plaques", "erythrokeratodermia variabilis ET progressiva", "erythrokeratodermia variabilis with erythema Gyratum Repens", "erythrokeratodermia variabilis with erythema gyratum repens", "erythrokeratodermia, progressive symmetric", "keratoderma palmoplantaris transgrediens", "keratosis extremitatum hereditaria progrediens", "keratosis palmoplantaris transgrediens et progrediens" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema." }, "child_count": 16, "reference_id": "MONDO:0017851" }, { "id": 18372, "label": "diffuse palmoplantar keratoderma with painful fissures", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017595", "MEDGEN:1660049", "Orphanet:369999", "UMLS:C4755309" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018250" }, { "id": 18741, "label": "KID syndrome", "isLeaf": false, "isRoot": false, "parents": [ 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003113", "ICD9:759.89", "MEDGEN:777082", "MESH:C536168", "MedDRA:10048786", "NANDO:1200621", "NANDO:2200996", "NORD:1326", "OMIMPS:148210", "Orphanet:477", "SCTID:2625009", "UMLS:C3665333" ], "synonyms": [ "KID/HID syndrome", "Keratitis Ichthyosis Deafness Syndrome", "Senter syndrome", "ichthyosis hystrix Rheydt type", "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome", "keratitis, ichthyosis, and deafness (KID) syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." }, "child_count": 6, "reference_id": "MONDO:0018781" }, { "id": 19310, "label": "diffuse palmoplantar keratoderma - acrocyanosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019089", "MEDGEN:929257", "Orphanet:86918", "UMLS:C4303588" ], "synonyms": [ "diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0019489" }, { "id": 23863, "label": "hearing loss with skin disease", "isLeaf": true, "isRoot": false, "parents": [ 17917 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes." }, "child_count": 0, "reference_id": "MONDO:0100113" } ], "roots": [ { "id": 19132, "label": "hereditary palmoplantar keratoderma" } ] }