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"

14 matching diseasesClear search ×

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

ORPHA:2306

Achalasia-microcephaly syndrome

ORPHA:929

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

ORPHA:1094

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

ORPHA:2697

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

ORPHA:90024

Galloway-Mowat syndrome

Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome

ORPHA:2065

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

ORPHA:2506

Micro syndrome

WARBM · Warburg micro syndrome

ORPHA:2510

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

ORPHA:294016

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

ORPHA:98555

Microphthalmia-microtia-fetal akinesia syndrome

Thomas-Jewett-Raines syndrome

ORPHA:2547

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

ORPHA:1456

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

ORPHA:500135

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

ORPHA:202948