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"

13 matching diseasesClear search ×

Rare genetic disorder with obstructive azoospermia

Rare genetic disorder due to impaired sperm transport

ORPHA:400003

Male infertility due to obstructive azoospermia of genetic origin

Male infertility due to impaired sperm transport of genetic origin

ORPHA:399998

Rare disorder with obstructive azoospermia

Rare disorder due to impaired sperm transport

ORPHA:399824

Rare genetic corneal disorder

ORPHA:522556

Rare genetic disorder of the pupil

ORPHA:522568

Rare genetic disorder with strabismus

ORPHA:522518

Rare genetic dystonia

Rare genetic dystonic disorder

ORPHA:391799

Rare genetic macular disorder

ORPHA:522574

Rare genetic movement disorder

ORPHA:183521

Rare genetic optic nerve disorder

ORPHA:522512

Rare genetic palpebral disorder

ORPHA:522526

Rare genetic retinal disorder

ORPHA:522572

Rare genetic tremor disorder

ORPHA:307061