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"

19 matching diseasesClear search ×

Laing distal myopathy

Distal myopathy type 1 · MPD1

ORPHA:59135

Left isomerism

LAI · Left atrial isomerism

ORPHA:566862

Atkin-Flaitz syndrome

X-linked intellectual disability, Atkin type

ORPHA:1193

Chilblain lupus

ORPHA:90280

Familial Chilblain lupus

ORPHA:481662

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

ORPHA:2678

Functional variant of Guillain-Barré syndrome

Functional variant of GBS

ORPHA:231419

Guillain-Barré syndrome

GBS · Guillain-Barré-Strohl syndrome

ORPHA:2103

Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

ORPHA:508512

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

ORPHA:3051

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome

ORPHA:1250

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

ORPHA:2474

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

Unexplained long-lasting fever/inflammatory syndrome

Persistent fever/inflammation of unknown origin

ORPHA:251332

Unexplained periodic fever syndrome

ORPHA:102237

Unexplained periodic fever syndrome of childhood

ORPHA:324960

Variant of Guillain-Barré syndrome

Variant of GBS

ORPHA:231413