|
rdfs:label
|
"Jadassohn-Lewandowsky sendromu"@tr
"Pachyonychia congenita"@de
"Paquioníquia congênita"@pt
"Paquioníquia congênita"@pt-br
"pachionichia congenita"@it
"pachyonychia congenita"@en
"pachyonychia congenita"@sl
"pachyonychia congenita"@sv
"pachyonychie congénitale"@fr
"wrodzone zgrubienie paznokci"@pl
"ثخن الأظفار الخلقي"@ar
"پاکونیشی مادر زادی"@fa
|
|
skos:altLabel
|
"Jackson-Lawler syndrome"@en
"Jackson-Lawler type pachyonychia congenita"@en
"Jadassohn-Lewandowsky syndrome"@en
"PC"@en
"Pachyonychia congenita"@pl
"Pachyonychia congenita syndrome"@en
"Pachyonychia congenita type 1"@en
"Pachyonychia congenita, Jadassohn-Lewandowky type"@en
"congenital pachyonychia"@en
"pachyonychie"@fr
"pachyonychie congenitale"@fr
"zespół Jadassohna i Lewandowsky'ego"@pl
"پاکونیشیا کانژنیتا"@fa
|
|
schema:description
|
"Krankheit"@de
"genodermatosi rara, caratterizzata da cheratoderma plantare e palmare"@it
"maladie génétique atteignant l'ectoderme"@fr
"onemocnění přídatných orgánů kůže"@cs
"rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes"@en
"redka skupina avtosomno dominantnih kožnih bolezni, ki jih povzroča mutacija v enem od petih različnih genov za keratin"@sl
"хвороба"@uk
"بیماری ازثی با توارث اتوزوم غالب در ژن های کد کننده کراتین های پوستی."@fa
"مرض يصيب الإنسان"@ar
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|
schema:dateModified
|
"2026-10-23T23:42:47+00:00"^^xsd:dateTime
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schema:version
|
2560157566
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|
wikibase:identifiers
|
28
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|
30
|
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wikibase:sitelinks
|
9
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wikibase:statements
|
65
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p:P11143
|
wd:statement/Q3360152-509AE4B9-3035-4C1A-B3A4-BD9FF2EC7086
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|
p:P1193
|
wd:statement/Q3360152-1AB394AC-F0BA-4AD8-958D-7BF7B9D352EA
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|
p:P14914
|
wd:statement/Q3360152-BBF401BD-0225-446B-A2C5-BD8214356217
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|
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|
wd:statement/Q3360152-60798963-4A1E-45EB-8D42-08BB8C1A9521
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|
p:P1748
|
wd:statement/Q3360152-B014D2B2-27E6-4865-83DF-6C8EE0707797
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|
p:P1995
|
wd:statement/Q3360152-5F218B7A-5750-4A1D-8ADB-13B74D6FAC60
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wd:statement/Q3360152-6E44ACDC-1872-415E-A5DC-554E8CBB0B9C
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wd:statement/Q3360152-FBF12787-753F-48C4-B0A4-11B003E3203B
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p:P244
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wd:statement/Q3360152-b2eb3749-44fd-6c21-0ad2-8be684e0e4a2
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|
p:P279
|
wd:statement/Q3360152-3E5A5786-8FCA-447E-BAB8-3FA4E3777AAD
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|
wd:statement/Q3360152-96d259d1-47bc-eb3f-2b6e-e09d6f587aca
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|
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p:P2841
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p:P2888
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wd:statement/Q3360152-0C822C3D-69BB-4076-86E2-BE389870CDA0
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wd:statement/Q3360152-E91EB2A2-FCE3-4405-8556-DC479D186350
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p:P2892
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wd:statement/Q3360152-675E6384-4A62-4487-A4A6-4F31EA8D33E3
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wd:statement/Q3360152-A720A67C-4B0C-48DB-8EC2-A8D2CCAFEEF3
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wd:statement/Q3360152-CA8B635E-5C45-4D26-A6DB-0A62A9C44890
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p:P31
|
wd:statement/Q3360152-6C55E260-B178-4194-95C2-AB1BB81AD356
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|
wd:statement/Q3360152-F7F29200-1326-4CDA-9A34-0EFA8FE4646C
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p:P4317
|
wd:statement/Q3360152-1471FC9F-971F-4482-A7BD-BF24FA460401
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p:P486
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wd:statement/Q3360152-8F634E4D-F8A2-4ABC-91E5-2DD1BD105757
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p:P493
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wd:statement/q3360152-1F8C3027-7CFE-4E1F-8C36-955C462F263C
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wd:statement/q3360152-5FBF0617-65BC-4391-9803-784A56F187F0
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p:P494
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wd:statement/q3360152-BA8A2B9C-8424-430F-8740-B5DDAAE1B326
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p:P5008
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wd:statement/Q3360152-88E3488F-D2B6-471E-845B-14CEE26EA07A
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p:P557
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wd:statement/q3360152-518AB2B5-B460-4C3F-9DDC-2479732F6D1E
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p:P5806
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wd:statement/Q3360152-5F2B7190-A93A-46BA-84F1-6315299ABB7A
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p:P6366
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wd:statement/Q3360152-5A414E21-6ACC-45B1-B6BD-CCCBC5D999A0
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p:P646
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wd:statement/Q3360152-B1A4CE41-6B2B-4E22-8107-AC53E4DBD4A5
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p:P6532
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wd:statement/Q3360152-06D023B6-2B50-4469-B79B-97D26187AF22
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|
wd:statement/Q3360152-0EF24D69-A707-4812-B9D1-B9DD35CC5B1B
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wd:statement/Q3360152-0FBE9D22-503C-4CEB-AF07-B3A84204956D
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|
wd:statement/Q3360152-19B5B576-E170-4E04-8B9D-6C33A03AFFC3
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|
wd:statement/Q3360152-237B970B-6035-468C-836C-3F43E4CA63C7
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wd:statement/Q3360152-269BDFB8-3E38-4106-AE30-4A1E91C03502
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wd:statement/Q3360152-3452AD1B-DD2A-41E7-BA2F-80636F70D3C1
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wd:statement/Q3360152-4388926F-40AC-446D-B616-24F5828BC29D
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wd:statement/Q3360152-469A1729-96D9-45C9-8BC7-2A5BCD6C0560
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wd:statement/Q3360152-5B2C4403-D0B5-48AF-8F0C-6DDDE4DB8B03
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wd:statement/Q3360152-5F4D8674-7C10-437A-AE8C-C59A481BE2E0
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wd:statement/Q3360152-748C4B19-9633-457F-A30F-3B49EDE1543C
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wd:statement/Q3360152-83211636-3944-4C48-96AD-4253D4F400FC
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wd:statement/Q3360152-9E87609A-260E-44D3-BAD8-93A5DA89FC5B
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wd:statement/Q3360152-BEAB6F26-347C-45C3-83B1-F5C1F6D9143F
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p:P672
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wd:statement/Q3360152-2fbf591f-4055-f99a-30db-4a7fb7ef0ef1
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p:P673
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wd:statement/q3360152-8FEA1AB7-D898-4E77-9C3A-100A0CEB9E3B
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p:P699
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wd:statement/Q3360152-606E5B09-081F-49F0-B244-2420E1954CB7
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p:P7464
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wd:statement/Q3360152-D50213D7-62D5-4B52-BE98-44059D11B51A
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p:P7807
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wd:statement/Q3360152-8C05C5B4-1CFE-40A1-8E52-71EEFFE67BCE
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p:P8189
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wd:statement/Q3360152-5575EC67-DAD2-4821-9356-E408C6C1A5D7
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p:P9272
|
wd:statement/Q3360152-DF67182D-CA28-426E-8F8F-18EABDC4F557
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|
p:direct-normalized/P244
|
<http://id.loc.gov/authorities/names/sh2020007373>
|
|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/D053549>
|
|
p:direct-normalized/P5806
|
<http://snomed.info/id/39427000>
|
|
p:direct-normalized/P6366
|
<https://makg.org/entity/2778394808>
|
|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H00684>
|
|
p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C16.131.077.350.856>
|
|
<http://id.nlm.nih.gov/mesh/C16.131.831.350.856>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.850.250.856>
|
|
<http://id.nlm.nih.gov/mesh/C17.800.529.594>
|
|
<http://id.nlm.nih.gov/mesh/C17.800.804.350.856>
|
|
<http://id.nlm.nih.gov/mesh/C17.800.827.250.856>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0050449>
|
|
wdt:P11143
|
"Pachyonychia congenita"
|
|
wdt:P1193
|
0.000001^^xsd:decimal
|
|
wdt:P14914
|
"D02309"
|
|
wdt:P1550
|
"2309"
|
|
wdt:P1748
|
"C84986"
|
|
wdt:P1995
|
medical genetics
|
|
wdt:P2293
|
KRT6A
|
|
KRT17
|
|
KRT16
|
|
KRT6B
|
|
wdt:P244
|
"sh2020007373"
|
|
wdt:P279
|
ectodermal dysplasia
|
|
autosomal dominant disease
|
|
nail disease
|
|
skin disease
|
|
wdt:P2841
|
any age
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0050449>
|
|
<http://purl.obolibrary.org/obo/DOID_0050449>
|
|
wdt:P2892
|
"C0265334"
|
|
"C1706595"
|
|
"C1721007"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P4317
|
"10753"
|
|
wdt:P486
|
"D053549"
|
|
wdt:P493
|
"703.8"
|
|
"757.5"
|
|
wdt:P494
|
"Q84.5"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P557
|
"32826"
|
|
wdt:P5806
|
"39427000"
|
|
wdt:P6366
|
"2778394808"
|
|
wdt:P646
|
"/m/02859zh"
|
|
wdt:P6532
|
phrynoderma
|
|
feeding difficulties
|
|
Respiratory distress
|
|
Linear arrays of macular hyperkeratoses in flexural areas
|
|
Palmar hyperkeratosis
|
|
Fingernail dysplasia
|
|
angular cheilitis
|
|
failure to thrive
|
|
otalgia
|
|
alopecia
|
|
epidermoid cyst
|
|
paronychia
|
|
steatocystoma multiplex
|
|
Eruptive vellus hair cyst
|
|
teeth present at birth
|
|
palmoplantar keratosis
|
|
Palmoplantar hyperhidrosis
|
|
dysphonia
|
|
wdt:P665
|
"H00684"
|
|
wdt:P672
|
"C16.131.077.350.856"
|
|
"C16.131.831.350.856"
|
|
"C16.320.850.250.856"
|
|
"C17.800.529.594"
|
|
"C17.800.804.350.856"
|
|
"C17.800.827.250.856"
|
|
wdt:P673
|
"1106169"
|
|
wdt:P699
|
"DOID:0050449"
|
|
wdt:P7464
|
"pachyonychia-congenita"
|
|
wdt:P7807
|
"381191784"
|
|
wdt:P8189
|
"987012575234005171"
|
|
wdt:P9272
|
"52142"
|