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"

10 matching diseasesClear search ×

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

ORPHA:391474

Familial isolated café-au-lait macules

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

ORPHA:2678

Frontonasal dysplasia

Median cleft face syndrome

ORPHA:250

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

ORPHA:648919

Isolated cleft lip

ORPHA:199302

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

ORPHA:475

Isolated Klippel-Feil syndrome

Congenital cervical vertebral fusion · Congenital fused cervical segments

ORPHA:2345

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

ORPHA:2542

Median facial cleft

Midline facial cleft · Tessier number 0-14 and 30 facial cleft

ORPHA:141234

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

ORPHA:391479