Rare Disease Library

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Distal arthrogryposis type 6 · Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

SPLIS · Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Idiopathic steroid-resistant nephrotic syndrome

Idiopathic SRNS

Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy

Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression

Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance

Idiopathic SSNS with secondary steroid resistance · Secondary steroid-resistant nephrotic syndrome

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

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

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Rare mitochondrial non-syndromic sensorineural deafness

Isolated mitochondrial neurosensory deafness · Isolated mitochondrial sensorineural deafness

Rare X-linked non-syndromic sensorineural deafness type DFN

X-linked isolated neurosensory deafness type DFN · X-linked isolated neurosensory hearing loss type DFN

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Sensorineural hearing loss-early graying-essential tremor syndrome

Sensorineural deafness-early graying-essential tremor syndrome

Sporadic idiopathic steroid-resistant nephrotic syndrome

Sporadic idiopathic nephrosis

Steroid-sensitive nephrotic syndrome without renal biopsy

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Syndromic sensorineural hearing loss due to COXPD · Syndromic sensorineural deafness due to COXPD