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"

9 matching diseasesClear search ×

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

ORPHA:672

Congenital hypothalamic hamartoma syndrome

CHHS

ORPHA:2113

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

ORPHA:201

Epidermal nevus syndrome

Epidermal hamartoma syndrome

ORPHA:35125

Gelastic seizures with hypothalamic hamartoma

GS-HH · Hypothalamic hamartoma with gelastic seizures

ORPHA:86906

Hypothalamic adipsic hypernatraemia syndrome

ORPHA:443101

Linear verrucous nevus syndrome

Linear hamartoma syndrome

ORPHA:2611

PTEN hamartoma tumor syndrome

PHTS

ORPHA:306498

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

ORPHA:185