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"

13 matching diseasesClear search ×

Congenital isolated hyperinsulinism

PHHI · Persistent hyperinsulinemic hypoglycemia of infancy

ORPHA:657

Congenital glucokinase-related hyperinsulinism

Glucokinase-related hyperinsulinemic hypoglycemia

ORPHA:79299

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

ORPHA:263455

Diazoxide-resistant diffuse hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form

ORPHA:165988

Diazoxide-resistant focal hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form

ORPHA:79298

Diazoxide-resistant hyperinsulinism

Diazoxide-resistant hyperinsulinemic hypoglycemia

ORPHA:276585

Exercise-induced hyperinsulinism

EIHI · Exercise-induced hyperinsulinemic hypoglycemia

ORPHA:165991

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

ORPHA:276525

Hyperinsulinemic hypoglycaemia

ORPHA:443095

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinemic hypoglycemia due to HNF1A deficiency

ORPHA:324575

Hyperinsulinism due to INSR deficiency

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

ORPHA:263458

Hyperinsulinism due to UCP2 deficiency

Hyperinsulinemic hypoglycemia due to UCP2 deficiency

ORPHA:276556

Transient hypogammaglobulinemia of infancy

ORPHA:169139