loading...| Preferred Name | Epidermolysis Bullosa Dystrophica | |
| Synonyms |
Cockayne Touraine Disease Cockayne Touraine Type Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Dominant Epidermolysis Bullosas, Dystrophic Epidermolysis Bullosa Dystrophica, Autosomal Recessive Cockayne-Touraine Disease Bullosa Dystrophica, Epidermolysis Bullosa, Dystrophic Epidermolysis Dystrophic Epidermolysis Bullosa, Autosomal Recessive Bullosa Dystrophicas, Epidermolysis Dystrophic Epidermolysis Bullosas Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type Cockayne-Touraine Type Epidermolysis Bullosa Dystrophica, Epidermolysis Bullosa Dystrophic Epidermolysis Bullosa Dystrophicas, Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Recessive Bullosas, Dystrophic Epidermolysis Hallopeau Siemens Disease Epidermolysis Bullosa Dystrophicas Hallopeau-Siemens Disease Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type Epidermolysis Bullosa, Dystrophic |
|
| 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 |
Cockayne Touraine Disease Cockayne Touraine Type Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Dominant Epidermolysis Bullosas, Dystrophic Epidermolysis Bullosa Dystrophica, Autosomal Recessive Cockayne-Touraine Disease Bullosa Dystrophica, Epidermolysis Bullosa, Dystrophic Epidermolysis Dystrophic Epidermolysis Bullosa, Autosomal Recessive Bullosa Dystrophicas, Epidermolysis Dystrophic Epidermolysis Bullosas Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type Cockayne-Touraine Type Epidermolysis Bullosa Dystrophica, Epidermolysis Bullosa Dystrophic Epidermolysis Bullosa Dystrophicas, Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Recessive Bullosas, Dystrophic Epidermolysis Hallopeau Siemens Disease Epidermolysis Bullosa Dystrophicas Hallopeau-Siemens Disease Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type Epidermolysis Bullosa, Dystrophic |
|
| 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 |
C0079136 C0079294 C0079474 |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
1991 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C563192 http://purl.bioontology.org/ontology/MESH/C535494 http://purl.bioontology.org/ontology/MESH/C535956 http://purl.bioontology.org/ontology/MESH/C562637 http://purl.bioontology.org/ontology/MESH/C562638 http://purl.bioontology.org/ontology/MESH/C567272 http://purl.bioontology.org/ontology/MESH/C567121 |
|
| MDA |
19900212 |
|
| MMR |
20150618 |
|
| MN |
C17.300.200.367 C16.131.831.493.160 C17.800.804.493.160 C17.800.865.410.160 C16.320.850.275.160 C17.800.827.275.160 |
|
| notation |
D016108 |
|
| prefLabel |
Epidermolysis Bullosa Dystrophica |
|
| TERMUI |
T047850 T665918 T047853 T047848 T811960 T665917 T751636 T047851 T811962 T047849 T047852 T665919 |
|
| TH |
OMIM (2013) NLM (1993) NLM (1991) NLM (2010) GHR (2014) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |