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"

26 matching diseasesClear search ×

Periodontal Ehlers-Danlos syndrome

Periodontal EDS · EDS VIII

ORPHA:75392

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

ORPHA:1899

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS

ORPHA:536467

Brittle cornea syndrome

Ehlers-Danlos syndrome type 6B

ORPHA:90354

Cardiac-valvular Ehlers-Danlos syndrome

Cardiac-valvular EDS · cvEDS

ORPHA:230851

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

ORPHA:287

Classical-like Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome due to tenascin-X deficiency · Classical-like EDS type 1

ORPHA:230839

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

ORPHA:536532

Dermatosparaxis Ehlers-Danlos syndrome

Dermatosparaxis EDS · Ehlers-Danlos syndrome type 7C

ORPHA:1901

Ehlers-Danlos syndrome

EDS

ORPHA:98249

Ehlers-Danlos syndrome with periventricular heterotopia

EDS with periventricular heterotopia · Filamin A-related EDS with periventricular nodular heterotopia

ORPHA:82004

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

ORPHA:230857

Hypermobile Ehlers-Danlos syndrome

EDS-HT · Ehlers-Danlos syndrome hypermobility type

ORPHA:285

Kyphoscoliotic Ehlers-Danlos syndrome

Kyphoscoliotic EDS · kEDS

ORPHA:536545

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

EDS VIA · Ocular-scoliotic EDS

ORPHA:1900

Musculocontractural Ehlers-Danlos syndrome

Musculocontractural EDS · mcEDS

ORPHA:2953

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

ORPHA:536516

OBSOLETE: Ehlers-Danlos syndrome type 1

OBSOLETE: EDS I

ORPHA:90309

OBSOLETE: Ehlers-Danlos syndrome type 2

OBSOLETE: EDS II

ORPHA:90318

OBSOLETE: Ehlers-Danlos syndrome type 7A

OBSOLETE: EDS VIIA

ORPHA:99875

OBSOLETE: Ehlers-Danlos syndrome type 7B

OBSOLETE: EDS VIIB

ORPHA:99876

OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type

OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality · OBSOLETE: EDS X

ORPHA:75501

Spondylodysplastic Ehlers-Danlos syndrome

spEDS · Spondylodysplastic EDS

ORPHA:536471

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

ORPHA:286

Vascular Ehlers-Danlos-polymicrogyria syndrome

Vascular EDS with polymicrogyria

ORPHA:636941

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5

ORPHA:75497