| ID |
http://id.who.int/icd/entity/1396318836 |
| Preferred Name |
Épidermolyse bulleuse simple, Ogna |
| Definitions |
Epidermolysis bullosa simplex, Ogna type (EBS-Og) is a basal subtype of epidermolysis bullosa simplex characterized by sometimes widespread but primarily acral blistering. It is due to mutations in the PLEC gene which encodes the protein plectin. |
| Type |
http://www.w3.org/2002/07/owl#Class |
| comment | epidermolysis bullosa simplex, ogna typ (ebs-og) jest podtyp basal epidermolysis bullosa simplex charakteryzuje się czasem powszechne, ale przede wszystkim acral pęcherza. to ze względu na mutacje w genu plec, który koduje plamę proteinową. epidermolysis bullosa simplex, ogna type (ebs-og) is a basal subtype of epidermolysis bullosa simplex χαρακτηρίζεται από μερικές φορές διαδεδομένη, αλλά κυρίως acral blistering. οφείλεται σε μεταλλάξεις στο γονίδιο plec που κωδικοποιεί την πρωτεΐνη plectin. Epidermolysis bullosa simplex, Ogna type (EBS-Og) is a basal subtype of epidermolysis bullosa simplex characterized by sometimes widespread but primarily acral blistering. It is due to mutations in the PLEC gene which encodes the protein plectin. l'épidermolyse bullosa simplex, de type ogna (ebs-og), est un sous-type basal de l'épidermolyse bullosa simplex caractérisé par des boursouflures parfois répandues, mais surtout des ampoules acrales. epidermolysis bullosa simplex, ogna type (ebs-og) ist ein basaler Subtyp der Epidermolysis bullosa simplex, der durch manchmal weit verbreitete, aber primär akrale Blasenbildung gekennzeichnet ist. Er beruht auf Mutationen im Plec-Gen, das das Protein Plektin kodiert. |
| broaderTransitive | |
| prefLabel | Épidermolyse bulleuse simple, Ogna |
| browserUrl | NA |
| label | h ιδιοπαθής προοδευτική polyneuropathy Epidermolysis bullosa simplex, Ogna naskórek bullosa simplex, ogna Épidermolyse bulleuse simple, Ogna Epidermolysis bullosa simplex, ogna |
| subClassOf |
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