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"

10 matching diseasesClear search ×

Rare disorder with hypergonadotropic hypogonadism

Rare disorder with primary hypogonadism

ORPHA:181441

Rare disorder with ectropion

ORPHA:519268

Rare disorder with entropion

ORPHA:519270

Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism

ORPHA:399846

Rare disorder with hypertrichosis

ORPHA:79365

Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism

ORPHA:181387

Rare disorder with pigmented sclera

ORPHA:519296

Rare disorder with ptosis

ORPHA:98578

Rare disorder with strabismus

ORPHA:98681

Rare genetic disorder with strabismus

ORPHA:522518