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"

14 matching diseasesClear search ×

Congenital hypothyroidism due to developmental anomaly

Primary congenital hypothyroidism due to developmental anomaly

ORPHA:95711

Central congenital hypothyroidism

Secondary hypothyroidism

ORPHA:226298

Congenital disorder of glycosylation with developmental anomaly

CDG with developmental anomaly

ORPHA:371235

Congenital hypothyroidism

ORPHA:442

Congenital hypothyroidism due to maternal intake of antithyroid drugs

ORPHA:226313

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

ORPHA:95715

Genetic transient congenital hypothyroidism

ORPHA:226316

Idiopathic congenital hypothyroidism

ORPHA:95717

Permanent congenital hypothyroidism

ORPHA:226292

Primary congenital hypothyroidism

ORPHA:226295

Primary congenital hypothyroidism without thyroid developmental anomaly

ORPHA:95714

Transient congenital hypothyroidism

ORPHA:178045

Transient congenital hypothyroidism due to maternal factor

ORPHA:238696

Transient congenital hypothyroidism due to neonatal factor

ORPHA:238699