loading...| Preferred Name | recessive dystrophic epidermolysis bullosa | |
| Synonyms |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa severe generalised RDEB severe generalised recessive dystrophic epidermolysis bullosa RDEB, severe generalized epidermolysis bullosa dystrophica inversa, autosomal recessive RDEB, severe generalised epidermolysis bullosa dystrophica, generalized severe, autosomal recessive epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant dystrophic epidermolysis bullosa, autosomal recessive epidermolysis bullosa dystrophica, generalised severe, autosomal recessive recessive dystrophic epidermolysis bullosa, severe generalized autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) epidermolysis bullosa dystrophica, Hallopeau-Siemens type epidermolysis bullosa dystrophica, autosomal recessive recessive dystrophic epidermolysis bullosa, severe generalised RDEB RDEB generalisata gravis RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis epidermolysis bullosa dystrophica, autosomal recessive, modifier of RDEB-sev gen autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type epidermolysis bullosa dystrophica, AR EBD inversa |
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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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| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009179 |
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| database_cross_reference |
ICD9:757.39 UMLS:C0079474 SCTID:48528004 NANDO:2201383 NANDO:1200238 OMIM:226600 DOID:0060642 Orphanet:79408 MEDGEN:36311 GARD:6308 |
|
| 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 |
RDEB generalisata gravis RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis epidermolysis bullosa dystrophica, autosomal recessive, modifier of RDEB-sev gen autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type epidermolysis bullosa dystrophica, AR EBD inversa |
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| has_narrow_synonym |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa severe generalised RDEB severe generalised recessive dystrophic epidermolysis bullosa |
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| has_related_synonym |
RDEB, severe generalized epidermolysis bullosa dystrophica inversa, autosomal recessive RDEB, severe generalised epidermolysis bullosa dystrophica, generalized severe, autosomal recessive epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant dystrophic epidermolysis bullosa, autosomal recessive epidermolysis bullosa dystrophica, generalised severe, autosomal recessive recessive dystrophic epidermolysis bullosa, severe generalized autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) epidermolysis bullosa dystrophica, Hallopeau-Siemens type epidermolysis bullosa dystrophica, autosomal recessive recessive dystrophic epidermolysis bullosa, severe generalised RDEB |
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| IAO_0000233 | ||
| id |
MONDO:0009179 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
recessive dystrophic epidermolysis bullosa |
|
| notation |
MONDO:0009179 |
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| preferred label |
recessive dystrophic epidermolysis bullosa |
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| prefLabel |
recessive dystrophic epidermolysis bullosa |
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| skos_exactMatch |
http://identifiers.org/snomedct/48528004 http://purl.obolibrary.org/obo/Orphanet_79408 http://linkedlifedata.com/resource/umls/id/C0079474 |
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| subClassOf |