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"

11 matching diseasesClear search ×

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

ORPHA:478

Congenital hypogonadotropic hypogonadism

ORPHA:174590

Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature

ORPHA:181390

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Bosma-Henkin-Christiansen syndrome · Bosma arhinia-microphthalmia syndrome

ORPHA:2250

Isolated congenital anosmia

ORPHA:88620

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

ORPHA:238666

Normosmic congenital hypogonadotropic hypogonadism

Normosmic idiopathic hypogonadotropic hypogonadism · nIHH

ORPHA:432

Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism

ORPHA:399846

Rare disorder with hypergonadotropic hypogonadism

Rare disorder with primary hypogonadism

ORPHA:181441

Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism

ORPHA:181387

Rare female infertility due to a congenital hypogonadotropic hypogonadism

ORPHA:399839