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 ×

Blepharophimosis-intellectual disability syndrome, SBBYS type

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

ORPHA:3047

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

ORPHA:3095

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

ORPHA:293707

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

ORPHA:2728

Functional variant of Guillain-Barré syndrome

Functional variant of GBS

ORPHA:231419

Miller Fisher syndrome

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

ORPHA:98919

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

ORPHA:2792

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

Sheldon-Hall syndrome

SSH · DA2B

ORPHA:1147

Simpson-Golabi-Behmel syndrome type 2

Lethal variant of Simpson-Golabi-Behmel syndrome · SGBS2

ORPHA:79022

Variant of Guillain-Barré syndrome

Variant of GBS

ORPHA:231413