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"

14 matching diseasesClear search ×

Ehlers-Danlos syndrome

EDS

ORPHA:98249

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

ORPHA:1899

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

EDS with short stature and limb anomalies · EDS progeroid type 1

ORPHA:75496

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

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

ORPHA:178464

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

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

ORPHA:536516

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

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SCD-EDS · SLC39A13-related spEDS

ORPHA:157965