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"

15 matching diseasesClear search ×

Galloway-Mowat syndrome

Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome

ORPHA:2065

Achalasia-microcephaly syndrome

ORPHA:929

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

ORPHA:1094

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

ORPHA:564127

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

ORPHA:66629

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

ORPHA:79507

Idiopathic nephrotic syndrome

ORPHA:357502

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

ORPHA:2306

Lethal hydranencephaly-diaphragmatic hernia syndrome

ORPHA:480528

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

ORPHA:137893

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

ORPHA:2515

Microcephaly-glomerulonephritis-marfanoid habitus syndrome

ORPHA:2172

Microlissencephaly-micromelia syndrome

Basel-Vanagaite-Sirota syndrome

ORPHA:50810

Syndrome with microcephaly as a major feature

ORPHA:269528