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"

111 matching diseasesClear search ×

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

ORPHA:3363

Ulna hypoplasia-intellectual disability syndrome

ORPHA:2249

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

ORPHA:3459

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

ORPHA:500163

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

ORPHA:3464

X-linked intellectual disability-ataxia-apraxia syndrome

ORPHA:85338

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

ORPHA:85330

X-linked intellectual disability-epilepsy syndrome

ORPHA:2076

X-linked intellectual disability-hypotonic face syndrome

ORPHA:73220

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

ORPHA:3052

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

ORPHA:85333

X-linked intellectual disability-spastic quadriparesis syndrome

ORPHA:163982

X-linked non-syndromic intellectual disability

ORPHA:777

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436

X-linked spasticity-intellectual disability-epilepsy syndrome

ORPHA:3175