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"

7 matching diseasesClear search ×

Mild phenylketonuria

Mild PKU · mPKU

ORPHA:79253

Leukocyte adhesion deficiency type III

LAD-1 variant · LAD-III

ORPHA:99844

Logopenic progressive aphasia

LPA · Logopenic primary progressive aphasia

ORPHA:250831

Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

PCB variant of GBS · PCB variant of Guillain-Barré syndrome

ORPHA:231426

Progressive non-fluent aphasia

Agramatic variant of PPA · Agramatic variant of primary progressive aphasia

ORPHA:100070

Semantic dementia

Semantic primary progressive aphasia · Semantic variant PPA

ORPHA:100069

Variant of Guillain-Barré syndrome

Variant of GBS

ORPHA:231413