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"

5 matching diseasesClear search ×

Male infertility due to acephalic spermatozoa

Acephalic spermatozoa syndrome

ORPHA:529970

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

ORPHA:1672

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

ORPHA:2108

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

ORPHA:79099

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

ORPHA:137893