About: Bart–Pumphrey syndrome

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Bart–Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and deafness") is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal, proximal and distal interphalangeal joints. It was characterized in 1967. It can be associated with GJB2.

Attributes	Values
rdf:type	Thing Disease yago:WikicatPalmoplantarKeratodermas yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:IllHealth114052046 yago:Illness114061805 yago:Keratoderma114227906 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:SkinDisease114219661 yago:State100024720
rdfs:label	Bart–Pumphrey syndrome (en) Bart-Pumphrey-Syndrom (de) Síndrome de Bart-Pumphrey (es)
rdfs:comment	Das Bart-Pumphrey-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Hautverdickung über den Finger- und Zehengelenken, Leukonychie (weiße Flecken auf den Nägeln) und Taubheit. Synonyme sind: Knöchelpolster-Leukonychie-Taubheits-Syndrom; Schwann-Syndrom Die Namensbezeichnungen beziehen sich auf die Autorin der Erstbeschreibung aus dem Jahre 1963 durch die polnische Dermatologin J. Schwann. Die Abgrenzung des Syndromes erfolgte im Jahre 1967 durch den US-amerikanischen Dermatologen R. S. Bart und den HNO-Arzt R. E. Pumprey. (de) Bart–Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and deafness") is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal, proximal and distal interphalangeal joints. It was characterized in 1967. It can be associated with GJB2. (en) El Síndrome de Bart-Pumphrey es una condición genética autosomica dominante infrecuente la cual se caracteriza por abnormalidades multi-sistemicas que afectan a los nudillos, los dedos, y de las palmas de las manos y los pies la cual esta asociada con sordera congénita. (es)
foaf:name	Bart–Pumphrey syndrome (en)
name	Bart–Pumphrey syndrome (en)
dcterms:subject	Syndromes Palmoplantar keratodermas
Wikipage page ID	25614325 (xsd:integer)
Wikipage revision ID	1110826420 (xsd:integer)
Link from a Wikipage to another Wikipage	Leukonychia GJB2 Barth syndrome Palmoplantar keratoderma Syndromes Palmoplantar keratodermas Hyperkeratoses Metacarpophalangeal Camisa disease List of cutaneous conditions Interphalangeal joints
sameAs	Bart–Pumphrey syndrome Bart–Pumphrey syndrome Bart–Pumphrey syndrome Bart–Pumphrey syndrome Bart–Pumphrey syndrome
dbp:wikiPageUsesTemplate	dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Channelopathy dbt:Dermatology-stub
MeshID	537210.0 (nicaraguanCórdoba)
OMIM	149200 (xsd:integer)
field	dermatology (en)
has abstract	Das Bart-Pumphrey-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Hautverdickung über den Finger- und Zehengelenken, Leukonychie (weiße Flecken auf den Nägeln) und Taubheit. Synonyme sind: Knöchelpolster-Leukonychie-Taubheits-Syndrom; Schwann-Syndrom Die Namensbezeichnungen beziehen sich auf die Autorin der Erstbeschreibung aus dem Jahre 1963 durch die polnische Dermatologin J. Schwann. Die Abgrenzung des Syndromes erfolgte im Jahre 1967 durch den US-amerikanischen Dermatologen R. S. Bart und den HNO-Arzt R. E. Pumprey. (de) Bart–Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and deafness") is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal, proximal and distal interphalangeal joints. It was characterized in 1967. It can be associated with GJB2. (en) El Síndrome de Bart-Pumphrey es una condición genética autosomica dominante infrecuente la cual se caracteriza por abnormalidades multi-sistemicas que afectan a los nudillos, los dedos, y de las palmas de las manos y los pies la cual esta asociada con sordera congénita. (es)
gold:hypernym	Condition
MeSH ID	C537210
prov:wasDerivedFrom	wikipedia-en:Bart–Pumphrey_syndrome?oldid=1110826420&ns=0
page length (characters) of wiki page	2390 (xsd:nonNegativeInteger)
OMIM id	149200 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:Bart–Pumphrey_syndrome
is Link from a Wikipage to another Wikipage of	List of eponymous diseases List of genes mutated in cutaneous conditions GJB2 Bart-Pumphrey syndrome List of OMIM disorder codes List of skin conditions List of syndromes Palmoplantar keratoderma with knuckle pads and leukonychia and deafness
is Wikipage redirect of	Bart-Pumphrey syndrome Palmoplantar keratoderma with knuckle pads and leukonychia and deafness
is foaf:primaryTopic of	wikipedia-en:Bart–Pumphrey_syndrome

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