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"

9 matching diseasesClear search ×

Chromosome Y microdeletion syndrome

Male infertility due to chromosome Y microdeletion · Microdeletion of the AZF region on the Y chromosome

ORPHA:1646

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12

ORPHA:261600

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

ORPHA:261144

Male infertility due to globozoospermia

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

ORPHA:171709

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

ORPHA:137893

Male infertility due to NANOS1 mutation

ORPHA:352613

Male infertility due to sperm disorder

ORPHA:399771

Male infertility due to sperm motility disorder

Male infertility due to asthenozoospermia

ORPHA:399813

Non-syndromic male infertility due to sperm motility disorder

Non-syndromic male infertility due asthenozoospermia

ORPHA:276234