About: Haim–Munk syndrome

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Haim–Munk syndrome (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis") is a skin disease caused, like Papillon-Lefevre Syndrome, by a mutation in the cathepsin C gene. One of its features is thick curved finger and toenails. It is named after Salim Haim and J. Munk, who first described the disease in 1965.

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	Haim–Munk syndrome (en) Zespół Haima-Munka (pl)
rdfs:comment	Haim–Munk syndrome (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis") is a skin disease caused, like Papillon-Lefevre Syndrome, by a mutation in the cathepsin C gene. One of its features is thick curved finger and toenails. It is named after Salim Haim and J. Munk, who first described the disease in 1965. (en) Zespół Haima-Munka (ang. Haim-Munk syndrome) – rzadka choroba genetyczna. Podłożem molekularnym schorzenia jest mutacja w genie CTSC kodującym białko . Mutacje w tym samym genie objawiają się jako zespół Papillona-Lefèvre, są to zatem schorzenia alleliczne. Jednostkę chorobową opisano po raz pierwszy w 1965 roku w małej społeczności tzw. Czarnych Żydów (Cochin) w Indiach. Robert James Gorlin jako pierwszy zasugerował, że ten zespół i zespół Papillona-Lefevre są wariantami jednego schorzenia. (pl)
foaf:name	Haim–Munk syndrome (en)
name	Haim–Munk syndrome (en)
dcterms:subject	Syndromes affecting teeth Genodermatoses Rare syndromes Syndromes affecting the skin Palmoplantar keratodermas
Wikipage page ID	25622445 (xsd:integer)
Wikipage revision ID	1082801312 (xsd:integer)
Link from a Wikipage to another Wikipage	Epithelium List of dental abnormalities associated with cutaneous conditions Onychogryphosis Arachnodactyly Hyperkeratosis Dermatology Syndromes affecting teeth dbr:Salicylic_acid Erythema Consanguinity Osteolysis Papillon–Lefèvre syndrome Acitretin Genodermatoses Etretinate Flat feet Palmoplantar keratoderma Chromosome 11 Rare syndromes Haplotype Isotretinoin Hypertrophy Syndromes affecting the skin Acroosteolysis Palmoplantar keratodermas Cathepsin C Gums Salim Haim List of cutaneous conditions Skin disease Ichthyosis–sclerosing cholangitis syndrome
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/gene/1075
sameAs	Haim–Munk syndrome Haim–Munk syndrome Haim–Munk syndrome Haim–Munk syndrome Haim–Munk syndrome Haim–Munk syndrome
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist
ICD	(en) Q82.8 (en)
OMIM	245010 (xsd:integer)
field	Dermatology
synonyms	Palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis (en)
has abstract	Haim–Munk syndrome (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis") is a skin disease caused, like Papillon-Lefevre Syndrome, by a mutation in the cathepsin C gene. One of its features is thick curved finger and toenails. It is named after Salim Haim and J. Munk, who first described the disease in 1965. (en) Zespół Haima-Munka (ang. Haim-Munk syndrome) – rzadka choroba genetyczna. Podłożem molekularnym schorzenia jest mutacja w genie CTSC kodującym białko . Mutacje w tym samym genie objawiają się jako zespół Papillona-Lefèvre, są to zatem schorzenia alleliczne. Jednostkę chorobową opisano po raz pierwszy w 1965 roku w małej społeczności tzw. Czarnych Żydów (Cochin) w Indiach. Robert James Gorlin jako pierwszy zasugerował, że ten zespół i zespół Papillona-Lefevre są wariantami jednego schorzenia. (pl)
gold:hypernym	Condition
prov:wasDerivedFrom	wikipedia-en:Haim–Munk_syndrome?oldid=1082801312&ns=0
page length (characters) of wiki page	7801 (xsd:nonNegativeInteger)
ICD10	Q82.8
OMIM id	245010 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:Haim–Munk_syndrome
is Link from a Wikipage to another Wikipage of	List of dental abnormalities associated with cutaneous conditions Haim-Munk syndrome List of OMIM disorder codes List of skin conditions List of syndromes Palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis
is Wikipage redirect of	Haim-Munk syndrome Palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis
is foaf:primaryTopic of	wikipedia-en:Haim–Munk_syndrome

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