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 ×

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

ORPHA:2678

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

ORPHA:201

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

ORPHA:391474

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

ORPHA:648919

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

ORPHA:475

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

ORPHA:2542

LAMA5-related multisystemic syndrome

ORPHA:521450

Multiple pterygium syndrome

ORPHA:294060

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

ORPHA:3237