Rare Disease Library

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Chuvash erythrocytosis

Chuvash polycythemia · Von Hippel-Lindau-dependent polycythemia

H syndrome

Hepatic veno-occlusive disease-immunodeficiency syndrome

VODI syndrome

HIDEA syndrome

Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Keratoderma hereditarium mutilans

Mutilating keratoderma plus hearing loss · Mutilating keratoderma of Vohwinkel

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Microcephalic osteodysplastic primordial dwarfism types I and III

MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X