loading...| Preferred Name | recessive dystrophic epidermolysis bullosa | |
| Synonyms |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica, autosomal recessive epidermolysis bullosa dystrophica, Hallopeau-Siemens type epidermolysis bullosa dystrophica inversa, autosomal recessive dystrophic epidermolysis bullosa, autosomal recessive epidermolysis bullosa dystrophica, generalized severe, autosomal recessive RDEB, severe generalized RDEB recessive dystrophic epidermolysis bullosa, severe generalized epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) epidermolysis bullosa dystrophica, autosomal recessive, modifier of RDEB generalisata gravis EBD inversa autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis epidermolysis bullosa dystrophica, AR RDEB, Hallopeau-Siemens type RDEB-sev gen |
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| Definitions |
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009179 |
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| altLabel |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica, autosomal recessive epidermolysis bullosa dystrophica, Hallopeau-Siemens type epidermolysis bullosa dystrophica inversa, autosomal recessive dystrophic epidermolysis bullosa, autosomal recessive epidermolysis bullosa dystrophica, generalized severe, autosomal recessive RDEB, severe generalized RDEB recessive dystrophic epidermolysis bullosa, severe generalized epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) epidermolysis bullosa dystrophica, autosomal recessive, modifier of RDEB generalisata gravis EBD inversa autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis epidermolysis bullosa dystrophica, AR RDEB, Hallopeau-Siemens type RDEB-sev gen |
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| definition |
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
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| has_exact_synonym |
epidermolysis bullosa dystrophica, autosomal recessive, modifier of RDEB generalisata gravis EBD inversa autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis epidermolysis bullosa dystrophica, AR RDEB, Hallopeau-Siemens type RDEB-sev gen |
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| has_narrow_synonym |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa |
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| has_related_synonym |
epidermolysis bullosa dystrophica, autosomal recessive epidermolysis bullosa dystrophica, Hallopeau-Siemens type epidermolysis bullosa dystrophica inversa, autosomal recessive dystrophic epidermolysis bullosa, autosomal recessive epidermolysis bullosa dystrophica, generalized severe, autosomal recessive RDEB, severe generalized RDEB recessive dystrophic epidermolysis bullosa, severe generalized epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) |
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| IAO_0000233 | ||
| label |
recessive dystrophic epidermolysis bullosa |
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| prefixIRI |
MONDO:0009179 |
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| prefLabel |
recessive dystrophic epidermolysis bullosa |
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| textual definition |
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
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| subClassOf |