JSON

Epidermolysis Bullosa, Junctional

Go to external page http://purl.bioontology.org/ontology/MESH/D016109

Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.

Instance info

Synonyms

Epidermolysis Bullosa Letali, Herlitz Disease, Epidermolysis bullosa, junktionale (DE), Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type, Herlitz-Krankheit (DE), Epidermolysis Bullosa, Generalized Atrophic Benign, Herlitz-Pearson Type Epidermolysis Bullosa, Epidermolysis Bullosa, Junctional, Herlitz Type, Junctional Epidermolysis Bullosa, Epidermolysis Bullosa Progressiva, Epidermolysis Bullosa Letalis, Lethal Junctional Epidermolysis Bullosa, Herlitz's Disease, Letalis, Epidermolysis Bullosa, Epidermolysis Bullosa, Herlitz-Pearson-Type, Epidermolysis bullosa letalis (DE), Bullosa Letalis, Epidermolysis, Herlitzs Disease, Junktionale Epidermolysis bullosa (DE), Letali, Epidermolysis Bullosa, Herlitz-Pearson-Type Epidermolysis Bullosa, Bullosa Letali, Epidermolysis, Bullosa, Herlitz-Pearson-Type Epidermolysis, Disease, Herlitz's, Epidermolysis Bullosa Junctionalis, Progressive, Epidermolysis Bullosa Junctionalis, Disentis Type, Disease, Herlitz, Epidermolysis Bullosa Junctionalis, Severe Nonlethal, Letale junktionale Epidermolysis bullosa (DE), Herlitz Pearson Type Epidermolysis Bullosa, Epidermolysis Bullosa Junctionalis, Herlitz Type

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

19910101

HN

91; HERLITZ DISEASE was HERLITZ'S DISEASE 1991-92

MDA

19900212

MMR

20150618

MN

C17.800.804.493.170,C16.320.850.275.170,C17.800.827.275.170,C17.800.865.410.170,C16.131.831.493.170

OL

use EPIDERMOLYSIS BULLOSA, JUNCTIONAL to search HERLITZ'S DISEASE 1991-92

PM

91; HERLITZ DISEASE was HERLITZ'S DISEASE 1991-92

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,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/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,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

SIB

http://purl.bioontology.org/ontology/MESH/D016107,http://purl.bioontology.org/ontology/MESH/D016108,http://purl.bioontology.org/ontology/MESH/D016110

TERMUI

T047856,T047857,T811967,T047854,T811968,T047855,T768398,T768397,T768400,T047858,T768399,T047859,T782090,T782091,T047860,T782092

TH

NLM (1991),GHR (2014),NLM (1993),ORD (2010),OMIM (2013),NLM (2011),NLM (2012)

cui

C0079683,C0079301,C0079297

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C562639,http://purl.bioontology.org/ontology/MESH/C535958

tui

T047

Instance relations

Types