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"

11 matching diseasesClear search ×

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

ORPHA:137893

Achalasia-microcephaly syndrome

ORPHA:929

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

ORPHA:1094

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

ORPHA:1672

Galloway-Mowat syndrome

Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome

ORPHA:2065

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

ORPHA:66629

Macrocephaly-developmental delay syndrome

ORPHA:397612

Male infertility due to acephalic spermatozoa

Acephalic spermatozoa syndrome

ORPHA:529970

Male infertility due to globozoospermia

Round-headed sperm syndrome · Male infertility due to round-headed spermatozoa

ORPHA:171709

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

ORPHA:60040

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

ORPHA:466926