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"

58 matching diseasesClear search ×

Poirier-Bienvenu neurodevelopmental syndrome

ORPHA:689397

PRUNE1-related neurological syndrome

ORPHA:544469

Rauch-Steindl syndrome

NSD2-related syndrome

ORPHA:659642

RERE-related neurodevelopmental syndrome

ORPHA:494344

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

ORPHA:686488

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

ORPHA:329224

Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome

TM2D3-related neurodevelopmental disorder

ORPHA:708166

SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

ORPHA:633014

TELO2-related intellectual disability-neurodevelopmental disorder

You-Hoover-Fong syndrome

ORPHA:488642

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Beaulieu-Boycott-Innes syndrome · BBIS

ORPHA:363444