Rare Disease Library

Axial mesodermal dysplasia spectrum

Blastogenesis defect · Russell-Weaver-Bull syndrome

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

Hereditary acrokeratotic poikiloderma

Weary syndrome

Klüver-Bucy syndrome

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

Primary basilar invagination

Bull-Nixon syndrome

Rh deficiency syndrome

Rh-null syndrome

Rowell syndrome

Rudiger syndrome

Silver-Russell syndrome

Silver-Russell dwarfism

Silver-Russell syndrome due to 7p11.2p13 microduplication

Silver-Russell syndrome due to 7p11.2-p13 microduplication · Silver-Russell syndrome due to dup(7)(p11.2p13)

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

Weaver-like syndrome

Weaver-Williams syndrome

Wells syndrome

Eosinophilic cellulitis

Werner syndrome

Adult progeria · WS

West syndrome