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 ×

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

ORPHA:661

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

ORPHA:295000

Congenital high airway obstruction syndrome

CHAOS

ORPHA:700286

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

ORPHA:91413

Congenital hypothalamic hamartoma syndrome

CHHS

ORPHA:2113

Congenital long QT syndrome

Congenital LQTS

ORPHA:768

Congenital vascular bone syndrome

ORPHA:235832

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

ORPHA:99803

Hypomyelination-congenital cataract syndrome

ORPHA:85163

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

ORPHA:91132

Oley syndrome

Congenital hypotrichosis-milia syndrome

ORPHA:79458

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

ORPHA:447896