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"

161 matching diseasesClear search ×

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome

ORPHA:3409

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

ORPHA:468678

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

ORPHA:500163

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

ORPHA:847

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

ORPHA:431140

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

ORPHA:480880

X-linked intellectual disability-acromegaly-hyperactivity syndrome

ORPHA:85327

X-linked intellectual disability-ataxia-apraxia syndrome

ORPHA:85338

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-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

ORPHA:2898

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-short stature-overweight syndrome

ORPHA:457240

X-linked intellectual disability, Cilliers type

X-linked intellectual disability-microcephaly-testicular failure syndrome

ORPHA:163971

X-linked intellectual disability, Najm type

MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

ORPHA:163937