Rare Disease Library

OBSOLETE: Pilotto syndrome

OBSOLETE: Ramsay Hunt syndrome type II

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

OBSOLETE: Shy-Drager syndrome

OBSOLETE: MSA-urinary dysfunction syndrome · OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

OBSOLETE: Taussig-Bing syndrome

OBSOLETE: Torres-Aybar syndrome

OBSOLETE: Van den Bosch syndrome

Periodontal Ehlers-Danlos syndrome

Periodontal EDS · EDS VIII

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SCD-EDS · SLC39A13-related spEDS

Spondylodysplastic Ehlers-Danlos syndrome

spEDS · Spondylodysplastic EDS

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

Vascular Ehlers-Danlos-polymicrogyria syndrome

Vascular EDS with polymicrogyria

Vascular-like classical Ehlers-Danlos syndrome

Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5