JSON

recessive dystrophic epidermolysis bullosa

Go to external page http://purl.obolibrary.org/obo/MONDO_0009179

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. [ Orphanet:79408 ]

Synonyms: RDEB generalisata gravis autosomal recessive dystrophic epidermolysis bullosa generalisata gravis epidermolysis bullosa dystrophica, autosomal recessive, modifier of RDEB, Hallopeau-Siemens type RDEB-sev gen autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type EBD inversa recessive dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica, AR

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:757.39 (MONDO:relatedTo)
  • DOID:0060642 (MONDO:equivalentTo)
  • GARD:6308 (Orphanet:79408)
  • Orphanet:79408 (OMIM:226600)
  • SCTID:48528004 (MONDO:equivalentTo)
  • OMIM:226600 (Orphanet:79408/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://purl.obolibrary.org/obo/DOID_0060642

http://identifiers.org/snomedct/48528004

http://www.orpha.net/ORDO/Orphanet_79408

https://omim.org/entry/226600

has narrow synonym

severe generalized RDEB

severe generalised RDEB

severe generalized recessive dystrophic epidermolysis bullosa

severe generalised recessive dystrophic epidermolysis bullosa

has related synonym

epidermolysis bullosa dystrophica, generalised severe, autosomal recessive

epidermolysis bullosa dystrophica, generalized severe, autosomal recessive

RDEB

epidermolysis bullosa dystrophica, Hallopeau-Siemens type

epidermolysis bullosa dystrophica, autosomal recessive

autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)

epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant

dystrophic epidermolysis bullosa, autosomal recessive

recessive dystrophic epidermolysis bullosa, severe generalized

epidermolysis bullosa dystrophica inversa, autosomal recessive

RDEB, severe generalized

RDEB, severe generalised

recessive dystrophic epidermolysis bullosa, severe generalised

id

MONDO:0009179

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009179

Term relations