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Erythrokeratodermia Variabilis

Go to external page http://purl.bioontology.org/ontology/MESH/D056266

An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.

Instance info

Synonyms

Greither-Krankheit (DE), Progressive Symmetric Erythrokeratodermia, Erythrokeratodermia Variabilis with Erythema Gyratum Repens, Mendes da Costa Syndrom (DE), Greither-Syndrom (DE), Erythrokeratodermia Figurata Variabilis (DE), Transgrediens Et Progrediens Palmoplantar Keratoderma (DE), EKV (DE), Greither Disease, Erythrokeratodermia, Progressive Symmetric, Erythrokeratodermia Figurata Variabilis, Erythro et Keratodermia Variabilis, Erythrokeratodermia Figurata, Congenital Familial, in Plaques, Transgrediens et Progrediens Palmoplantar Keratoderma, Erythrokeratodermia Variabilis (DE), Mendes De Costa Syndrome

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20100101

FX

D007645,D017630

HN

2010

MDA

20090706

MMR

20170620

MN

C16.320.850.337,C17.800.229.606,C17.800.428.304,C17.800.827.337

PM

2010; ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES and ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS were indexed under PAPILLON-LEFEVRE DISEASE 2010-2016.

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D017630,http://purl.bioontology.org/ontology/MESH/D007645

SIB

http://purl.bioontology.org/ontology/MESH/D014983,http://purl.bioontology.org/ontology/MESH/D008065,http://purl.bioontology.org/ontology/MESH/D017499,http://purl.bioontology.org/ontology/MESH/D007057,http://purl.bioontology.org/ontology/MESH/D010241,http://purl.bioontology.org/ontology/MESH/D053529,http://purl.bioontology.org/ontology/MESH/D011038,http://purl.bioontology.org/ontology/MESH/D016506,http://purl.bioontology.org/ontology/MESH/D004535,http://purl.bioontology.org/ontology/MESH/D055623,http://purl.bioontology.org/ontology/MESH/D056734,http://purl.bioontology.org/ontology/MESH/D004476,http://purl.bioontology.org/ontology/MESH/D004893,http://purl.bioontology.org/ontology/MESH/D004892,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D016111,http://purl.bioontology.org/ontology/MESH/D053560,http://purl.bioontology.org/ontology/MESH/D007645,http://purl.bioontology.org/ontology/MESH/D007644,http://purl.bioontology.org/ontology/MESH/D000417,http://purl.bioontology.org/ontology/MESH/D056770,http://purl.bioontology.org/ontology/MESH/D007184,http://purl.bioontology.org/ontology/MESH/D015787,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D016731,http://purl.bioontology.org/ontology/MESH/D016112,http://purl.bioontology.org/ontology/MESH/D016113,http://purl.bioontology.org/ontology/MESH/D011561,http://purl.bioontology.org/ontology/MESH/D004891,http://purl.bioontology.org/ontology/MESH/D003483,http://purl.bioontology.org/ontology/MESH/D003876,http://purl.bioontology.org/ontology/MESH/D017092,http://purl.bioontology.org/ontology/MESH/D004820,http://purl.bioontology.org/ontology/MESH/D019871,http://purl.bioontology.org/ontology/MESH/D002145,http://purl.bioontology.org/ontology/MESH/D002781,http://purl.bioontology.org/ontology/MESH/D016463,http://purl.bioontology.org/ontology/MESH/D055653,http://purl.bioontology.org/ontology/MESH/D054463,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D017492,http://purl.bioontology.org/ontology/MESH/D057770,http://purl.bioontology.org/ontology/MESH/D017094

TERMUI

T730418,T731682,T730419,T808807,T731673,T000892512,T000919074,T773031,T767821

TH

ORD (2010),OMIM (2013),NLM (2011),NLM (2010)

cui

C1851480,C0265961

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C563739,http://purl.bioontology.org/ontology/MESH/C566391

tui

T047

Instance relations

Types