Rare Disease Library

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Feigenbaum-Bergeron-Richardson syndrome · Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome

Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Epidermolysis bullosa simplex, Dowling-Meara type · Autosomal dominant generalized EBS, severe form

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Dystrophic epidermolysis bullosa

DEB · Dermolytic epidermolysis bullosa

Epidermolysis bullosa acquisita

Acquired epidermolysis bullosa

Epidermolysis bullosa simplex

EBS

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Inherited epidermolysis bullosa

Epidermolysis bullosa hereditaria · Hereditary epidermolysis bullosa

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

ILNEB syndrome · Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

Localized dystrophic epidermolysis bullosa

Localized DEB

Localized epidermolysis bullosa simplex

EBS-loc · Epidermolysis bullosa simplex of palms and soles

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Severe generalized junctional epidermolysis bullosa

Epidermolysis bullosa letalis · JEB-H

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Spastic paraplegia-nephritis-deafness syndrome

Spastic paraplegia-nephritis-hearing loss syndrome · Fitzsimmons-Walson-Mellor syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH