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"

15 matching diseasesClear search ×

Miller Fisher syndrome

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

ORPHA:98919

Acute motor and sensory axonal neuropathy

AMSAN · Acute motor-sensory axonal GBS

ORPHA:98917

Acute motor axonal neuropathy

AMAN · Acute pure motor GBS

ORPHA:98918

Acute pandysautonomia

Acute panautonomic GBS · Acute panautonomic Guillain-Barré syndrome

ORPHA:231457

Acute pure sensory neuropathy

Acute pure sensory GBS · Acute pure sensory Guillain-Barré syndrome

ORPHA:231450

Acute sensory ataxic neuropathy

ASAN · Acute sensory ataxic GBS

ORPHA:231466

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

ORPHA:3095

Blepharophimosis-intellectual disability syndrome, SBBYS type

SBBYS variant of Ohdo syndrome · Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

ORPHA:3047

Facial diplegia with paresthesias

Facial diplegia with paresthesias variant of Guillain-Barré syndrome · Facial diplegia with paresthesias variant of GBS

ORPHA:480701

Functional variant of Guillain-Barré syndrome

Functional variant of GBS

ORPHA:231419

Guillain-Barré syndrome

GBS · Guillain-Barré-Strohl syndrome

ORPHA:2103

Paraparetic variant of Guillain-Barré syndrome

Paraparetic variant of GBS

ORPHA:231445

Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

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

ORPHA:231426

Regional variant of Guillain-Barré syndrome

Regional variant of GBS

ORPHA:231416

Variant of Guillain-Barré syndrome

Variant of GBS

ORPHA:231413