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"

4 matching diseasesClear search ×

Growth delay due to insulin-like growth factor I resistance

Resistance to IGF-1

ORPHA:73273

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

ORPHA:633

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

Resistance to thyroid hormone due to a mutation in TRb · Resistance to thyroid hormone beta

ORPHA:566243

Resistance to thyrotropin-releasing hormone syndrome

Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome

ORPHA:99832