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loading...| Preferred Name | Epidermolysis Bullosa Dystrophica, Autosomal Recessive | |
| Synonyms |
Recessive Dystrophic Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Autosomal Recessive RDEB |
|
| Definitions |
An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156446 |
|
| code |
C156446 |
|
| DEFINITION |
An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain. |
|
| FULL_SYN |
Recessive Dystrophic Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Autosomal Recessive RDEB |
|
| label |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
| Preferred_Name |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
| prefixIRI |
Thesaurus:C156446 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0079474 |
|
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/226600 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/NCIT_C156446 | BERO | LOOM |