loading...| Preferred Name |
Epidermolysis Bullosa Dystrophica |
| Synonyms |
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type |
| Definitions |
Form 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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D016108 |
| altLabel |
Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type Bullosa Dystrophica, Epidermolysis Epidermolysis Bullosas, Dystrophic Bullosas, Dystrophic Epidermolysis Dystrophic Epidermolysis Bullosas Epidermolysis Bullosa Dystrophica, Recessive Dystrophicas, Epidermolysis Bullosa Hallopeau-Siemens Disease Epidermolysis Bullosa Dystrophicas Bullosa, Dystrophic Epidermolysis Cockayne-Touraine Disease Epidermolysis Bullosa, Dystrophic Dystrophic Epidermolysis Bullosa, Autosomal Recessive Bullosa Dystrophicas, Epidermolysis Dystrophic Epidermolysis Bullosa Cockayne-Touraine Type Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type Cockayne Touraine Disease Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type Epidermolysis Bullosa Dystrophica, Autosomal Recessive Dystrophica, Epidermolysis Bullosa Cockayne Touraine Type Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type Epidermolysis Bullosa Dystrophica, Dominant Hallopeau Siemens Disease |
| 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 |
| cui |
C0079294 C0079474 C0079136 |
| DC |
1 |
| definition |
Form 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. |
| DX |
19910101 |
| HN |
1991 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D009394 http://purl.bioontology.org/ontology/MESH/D016107 http://purl.bioontology.org/ontology/MESH/D016109 http://purl.bioontology.org/ontology/MESH/D017441 http://purl.bioontology.org/ontology/MESH/D016110 http://purl.bioontology.org/ontology/MESH/D007627 |
| Machine permutation |
1991 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C562638 http://purl.bioontology.org/ontology/MESH/C567272 http://purl.bioontology.org/ontology/MESH/C567122 http://purl.bioontology.org/ontology/MESH/C536979 http://purl.bioontology.org/ontology/MESH/C562637 http://purl.bioontology.org/ontology/MESH/C567121 http://purl.bioontology.org/ontology/MESH/C535956 |
| MDA |
19900212 |
| MMR |
20150618 |
| MN |
C17.300.200.367 C16.131.831.493.160 C17.800.827.275.160 C17.800.804.493.160 C16.320.850.275.160 C17.800.865.410.160 |
| notation |
D016108 |
| prefLabel |
Epidermolysis Bullosa Dystrophica |
| TERMUI |
T047850 T665917 T751636 T665919 T811962 T047852 T047849 T665918 T047851 T047848 T811960 T047853 |
| TH |
NLM (1991) NLM (1993) NLM (2010) NLM (2007) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |