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"

5 matching diseasesClear search ×

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

ORPHA:79477

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

ORPHA:79476

Immunodeficiency syndrome with autoimmunity

ORPHA:169355

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

ORPHA:220465

Syndrome with combined immunodeficiency

ORPHA:331217