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"

6 matching diseasesClear search ×

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS

ORPHA:536467

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

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

ORPHA:75496

MGP-related spondyloepiphyseal dysplasia

MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome

ORPHA:664377

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SCD-EDS · SLC39A13-related spEDS

ORPHA:157965

Spondylodysplastic dysplasia

ORPHA:93434

Spondylodysplastic Ehlers-Danlos syndrome

spEDS · Spondylodysplastic EDS

ORPHA:536471