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 ×

Normosmic congenital hypogonadotropic hypogonadism

Normosmic idiopathic hypogonadotropic hypogonadism · nIHH

ORPHA:432

Congenital hypogonadotropic hypogonadism

ORPHA:174590

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

ORPHA:238666

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

ORPHA:478

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

ORPHA:2560