Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Epidermolysis bullosa simplex with hypodontia |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Generalized epidermolysis bullosa simplex |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa simplex herpetiformis |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa simplex with mottled pigmentation |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis simplex superficialis |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa simplex with neuromuscular disease |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Lethal autosomal recessive epidermolysis bullosa simplex |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Localised dystrophic epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Localised recessive dystrophic epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Generalized dystrophic epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Generalised recessive dystrophic epidermolysis bullosa mitis |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Transient neonatal bullous dermatosis |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Inverse junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Inverse junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Junctional epidermolysis bullosa mitis |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Junctional epidermolysis bullosa mitis |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Cicatricial junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Cicatricial junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Dominant dystrophic epidermolysis bullosa with absence of skin |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
2 |
Acquired epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Adult junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa simplex of the hands AND/OR feet |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
épidermolyse bulleuse dystrophique évolutive autosomique récessive |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Autosomal dominant epidermolysis bullosa simplex |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa simplex |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Pretibial epidermolysis bullosa |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Dominant dystrophic epidermolysis bullosa, albopapular type |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Dominant dystrophic epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Congenital junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Generalized epidermolysis bullosa simplex |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Dystrophic epidermolysis bullosa (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Localised junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Localised junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Progressive junctional epidermolysis bullosa (neurotrophic) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Progressive junctional epidermolysis bullosa (neurotrophic) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Generalized junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Generalized junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Dominant dystrophic epidermolysis bullosa with absence of skin |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Adult junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Recessive dystrophic epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Dominant dystrophic epidermolysis bullosa, albopapular type |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
3 |
Junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Congenital junctional epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
8 |
Bullous eruption of hand |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Progressive recessive dystrophic epidermolysis bullosa (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Dominant dystrophic epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
[X]Other epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa simplex, Ogna type (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Autosomal dominant epidermolysis bullosa simplex (disorder) |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Junctional epidermolysis bullosa (disorder) |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Junctional epidermolysis bullosa gravis of Herlitz (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa acquisita, classical acral type (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, bullous pemphigoid-like (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, cicatricial pemphigoid-like (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, Brunsting-Perry type (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, oral mucosal involvement (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Inherited epidermolysis bullosa |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Drug-induced epidermolysis bullosa acquisita (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Dystrophic epidermolysis bullosa inverse type (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa pruriginosa (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Conjunctivitis associated with epidermolysis bullosa (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
2 |
Epidermolysis bullosa acquisita, cicatricial pemphigoid-like (disorder) |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, bullous pemphigoid-like (disorder) |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
Acquired epidermolysis bullosa |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, classical acral type (disorder) |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, Brunsting-Perry type (disorder) |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa acquisita, oral mucosal involvement (disorder) |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
5 |
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
6 |
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
5 |
Basal epidermolysis bullosa simplex (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
5 |
A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
3 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
Junctional epidermolysis bullosa non-Herlitz type (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
3 |
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
Suprabasal epidermolysis bullosa simplex (disorder) |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
4 |
Generalized junctional epidermolysis bullosa |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
2 |
Dominant dystrophic epidermolysis bullosa |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Cicatricial junctional epidermolysis bullosa |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
Associated morphology |
False |
Epidermolysis |
Inferred relationship |
Some |
1 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
2 |
Recessive dystrophic epidermolysis bullosa |
Associated morphology |
True |
Epidermolysis |
Inferred relationship |
Some |
1 |