Rare Disease Library

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Aughton-Hufnagle syndrome

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

H syndrome

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

Hurler syndrome

Hurler disease · MPS1H

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia