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"

160 matching diseasesClear search ×

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

ORPHA:324410

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

ORPHA:137831

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

ORPHA:85330

X-linked intellectual disability-craniofacioskeletal syndrome

ORPHA:163979

X-linked intellectual disability-epilepsy syndrome

ORPHA:2076

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

ORPHA:3055

X-linked intellectual disability-hypotonic face syndrome

ORPHA:73220

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X

ORPHA:3077

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

ORPHA:85332

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 intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11

ORPHA:85286

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