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"

7 matching diseasesClear search ×

Combined pituitary hormone deficiencies, genetic forms

Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms

ORPHA:95494

Aromatase excess syndrome

AEXS · Familial hyperestrogenism

ORPHA:178345

Congenital hypogonadotropic hypogonadism

ORPHA:174590

Congenital hypothyroidism

ORPHA:442

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia

ORPHA:238722

Familial isolated congenital asplenia

ORPHA:101351

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

ORPHA:467