Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

12 matching diseasesClear search ×

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome

ORPHA:1383

Angora hair nevus

Schauder syndrome

ORPHA:370039

Ataxia-deafness-intellectual disability syndrome

Reardon-Baraitser syndrome · Ataxia-hearing loss-intellectual disability syndrome

ORPHA:1188

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

ORPHA:112

Clark-Baraitser syndrome

ORPHA:600731

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome

ORPHA:3218

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

ORPHA:2031

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

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

ORPHA:2237

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ORPHA:453

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

ORPHA:3051

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

ORPHA:2753

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

ORPHA:420561