Terminology Service for NFDI4Health
Epidermolysis Bullosa Dystrophica
Go to external page http://purl.bioontology.org/ontology/MESH/D016108Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Instance info
Synonyms
Epidermolysis bullosa dystrophica hyperplastica (DE), Hallopeau-Siemens Disease, Epidermolysis Bullosa, Dystrophic, Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophicas, Cockayne-Touraine Type Epidermolysis Bullosa, Cockayne Touraine Disease, Bullosa, Dystrophic Epidermolysis, Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type, Epidermolysis Bullosas, Dystrophic, Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type, Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type, Epidermolysis bullosa polydysplastica (DE), Dystrophicas, Epidermolysis Bullosa, Epidermolysis bullosa dystrophica (DE), Epidermolysis Bullosa Dystrophica, Dominant, Epidermolysis Bullosa Dystrophica, Recessive, Cockayne-Touraine-Krankheit (DE), Cockayne Touraine Type Epidermolysis Bullosa, Hallopeau-Siemens-Krankheit (DE), Cockayne-Touraine Disease, Bullosas, Dystrophic Epidermolysis, Bullosa Dystrophicas, Epidermolysis, Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type, Dystrophica, Epidermolysis Bullosa, Hallopeau Siemens Disease, Epidermolysis bullosa hereditaria dystrophica dominans (DE), Bullosa Dystrophica, Epidermolysis, Dystrophic Epidermolysis Bullosa, Autosomal Recessive, Dystrophic Epidermolysis Bullosas, Epidermolysis Bullosa Dystrophica, Autosomal Recessive
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
1991
MDA
19900212
MMR
20150618
MN
C17.800.804.493.160,C16.320.850.275.160,C17.300.200.367,C17.800.865.410.160,C17.800.827.275.160,C16.131.831.493.160
PM
1991
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/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/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,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/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,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/D004535,http://purl.bioontology.org/ontology/MESH/D009394,http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D016110,http://purl.bioontology.org/ontology/MESH/D017441,http://purl.bioontology.org/ontology/MESH/D016109,http://purl.bioontology.org/ontology/MESH/D007627
TERMUI
T665919,T047849,T811962,T047848,T811960,T047852,T665918,T751636,T047853,T665917,T047850,T047851
TH
NLM (1991),NLM (2007),GHR (2014),NLM (1993),ORD (2010),OMIM (2013),NLM (2010)
cui
C0079474,C0079136,C0079294
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C536979,http://purl.bioontology.org/ontology/MESH/C562638,http://purl.bioontology.org/ontology/MESH/C535956,http://purl.bioontology.org/ontology/MESH/C567122,http://purl.bioontology.org/ontology/MESH/C567121,http://purl.bioontology.org/ontology/MESH/C562637,http://purl.bioontology.org/ontology/MESH/C567272,http://purl.bioontology.org/ontology/MESH/C563192,http://purl.bioontology.org/ontology/MESH/C535494
tui
T047
Instance relations
Types