General Information
Term	epidermolysis bullosa	ID (Ontology)	DOID:2730 (Human Disease)
Definition	A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
Also Known As	"acantholysis bullosa"
Comment
Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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General Information

Term

epidermolysis bullosa

ID (Ontology)

DOID:2730 (Human Disease)

Definition

A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.

Also Known As

"acantholysis bullosa"

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

No relevant statements available

  bullous skin disease
   |__vesiculobullous skin disease
       |__epidermolysis bullosa  14 rec.
           |__epidermolysis bullosa acquisita
           |__epidermolysis bullosa dystrophica
           |   |__autosomal dominant dystrophic epidermolysis bullosa(+)
           |   |__pretibial dystrophic epidermolysis bullosa
           |   |__recessive dystrophic epidermolysis bullosa
           |   |__transient bullous dermolysis of the newborn
           |__epidermolysis bullosa simplex 12 rec.
           |   |__epidermolysis bullosa simplex Dowling-Meara type 8 rec.
           |   |__epidermolysis bullosa simplex generalized type 1 rec.
           |   |__epidermolysis bullosa simplex localized type 1 rec.
           |   |__epidermolysis bullosa simplex Ogna type 1 rec.
           |   |__epidermolysis bullosa simplex with mottled pigmentation
           |__junctional epidermolysis bullosa 2 rec.
               |__junctional epidermolysis bullosa Herlitz type 1 rec.
               |__junctional epidermolysis bullosa non-Herlitz type 1 rec.
               |__junctional epidermolysis bullosa with pyloric atresia 1 rec.

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Relationships
Is a	vesiculobullous skin disease
Part of
Synonyms & Secondary IDs
Synonyms
	"acantholysis bullosa" EXACT
Secondary IDs

External Crossreferences & Linkouts
	GARD:6359 ICD10CM:Q81 MESH:D004820 NCI:C67383 SNOMEDCT_US_2023_03_01:205580008 UMLS_CUI:C0014527

Spanning Tree View Settings

Parents/Children
View Depth

Relationships

Is a

vesiculobullous skin disease

Part of

Synonyms & Secondary IDs

Synonyms

"acantholysis bullosa" EXACT

Secondary IDs

External Crossreferences & Linkouts

GARD:6359
ICD10CM:Q81
MESH:D004820
NCI:C67383
SNOMEDCT_US_2023_03_01:205580008
UMLS_CUI:C0014527