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"

20 matching diseasesClear search ×

OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type

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

ORPHA:75501

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

ORPHA:1899

Brittle cornea syndrome

Ehlers-Danlos syndrome type 6B

ORPHA:90354

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

Dermatosparaxis Ehlers-Danlos syndrome

Dermatosparaxis EDS · Ehlers-Danlos syndrome type 7C

ORPHA:1901

Ehlers-Danlos syndrome

EDS

ORPHA:98249

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 FKBP22 deficiency

Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss · FKBP22-deficient EDS

ORPHA:300179

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

Periodontal Ehlers-Danlos syndrome

Periodontal EDS · EDS VIII

ORPHA:75392

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

ORPHA:286

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5

ORPHA:75497