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"

9 matching diseasesClear search ×

Complete androgen insensitivity syndrome

CAIS · Complete androgen resistance syndrome

ORPHA:99429

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

ORPHA:754

Estrogen resistance syndrome

ORPHA:785

Insulin-resistance syndrome type A

ORPHA:2297

Insulin-resistance syndrome type B

ORPHA:2298

Leydig cell hypoplasia due to complete LH resistance

46,XY DSD due to complete LH receptor inactivation · 46,XY DSD due to complete LH resistance

ORPHA:96265

Partial androgen insensitivity syndrome

PAIS · Partial androgen resistance syndrome

ORPHA:90797

Rare insulin-resistance syndrome

ORPHA:181368

Resistance to thyrotropin-releasing hormone syndrome

Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome

ORPHA:99832