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"

8 matching diseasesClear search ×

Familial keratoacanthoma

Hereditary keratoacanthoma · Multiple keratoacanthoma

ORPHA:493

Autosomal dominant keratitis

Hereditary keratitis

ORPHA:2334

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

ORPHA:1416

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

ORPHA:30925

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Hereditary xanthinuria

Classic xanthinuria · Xanthic urolithiasis

ORPHA:3467

Keratoderma hereditarium mutilans

Mutilating keratoderma plus hearing loss · Mutilating keratoderma of Vohwinkel

ORPHA:494

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

ORPHA:359