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 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

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

ORPHA:424

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

ORPHA:3221

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

OBSOLETE: Peripheral resistance to thyroid hormones

ORPHA:97927

Pituitary resistance to thyroid hormone

PRTH · Selective pituitary resistance to thyroid hormone

ORPHA:165994

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

Resistance to thyroid hormone due to a mutation in TRa · RTHa

ORPHA:566231

Resistance to thyrotropin-releasing hormone syndrome

Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome

ORPHA:99832