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 ×

Resistance to thyrotropin-releasing hormone syndrome

Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome

ORPHA:99832

Central congenital hypothyroidism

Secondary hypothyroidism

ORPHA:226298

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

ORPHA:424

Hyperinsulinism due to INSR deficiency

Hyperinsulinemic hypoglycemia due to INSR deficiency · Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

ORPHA:263458

Hypothyroidism due to TSH receptor mutations

ORPHA:90673

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

ORPHA:633

Obesity due to leptin receptor gene deficiency

ORPHA:179494

Transient congenital hypothyroidism due to maternal factor

ORPHA:238696

Transient congenital hypothyroidism due to neonatal factor

ORPHA:238699