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"

6 matching diseasesClear search ×

X-linked central congenital hypothyroidism with late-onset testicular enlargement

IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism

ORPHA:329235

Central congenital hypothyroidism

Secondary hypothyroidism

ORPHA:226298

Congenital hypothyroidism

ORPHA:442

Congenital thyroid malformation without hypothyroidism

ORPHA:95718

Permanent congenital hypothyroidism

ORPHA:226292

Transient congenital hypothyroidism

ORPHA:178045