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"

10,911 rare diseases

Zebra body myopathy

ORPHA:97240

Zechi-Ceide syndrome

Occipital atretic cephalocele-unusual facies-large feet syndrome

ORPHA:217017

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS

ORPHA:912

Zellweger-like syndrome without peroxisomal anomalies

Ahn-Lerman-Sagie syndrome

ORPHA:50812

Zika virus disease

Zika virus infection

ORPHA:448237

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome

ORPHA:3473

Zinc-responsive necrolytic acral erythema

NAE · Necrolytic acral erythema

ORPHA:439196

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)

ORPHA:687424

Zollinger-Ellison syndrome

Gastrinoma

ORPHA:913

ZTTK syndrome

Zhu-Tokita-Takenouchi-Kim syndrome · Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome

ORPHA:500150

Zygodactyly type 1

SD1, Weidenreich type · SD1a

ORPHA:295187

Zygodactyly type 2

SD1, Lueken type · SD1b

ORPHA:295189

Zygodactyly type 3

SD1, Montagu type · SD1c

ORPHA:295191

Zygodactyly type 4

SD1, Castilla type · SD1d

ORPHA:295193

Zygomycosis

Mucormycosis

ORPHA:73263