Rare Disease Library

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

Craniofrontonasal dysplasia-Poland anomaly syndrome

Webster-Deming syndrome

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hereditary acrokeratotic poikiloderma

Weary syndrome

Holoprosencephaly-radial heart renal anomalies syndrome

Steinfeld syndrome

Léri-Weill dyschondrosteosis

Léri-Weill syndrome

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

Lichtenstein syndrome

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Rubinstein-Taybi syndrome

Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome

Sturge-Weber syndrome

Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis

W syndrome

Pallister-W syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Weaver syndrome

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

Weaver-like syndrome

Weismann-Netter syndrome

Toxopachyosteose diaphysaire tibio-peroniere · Anterior bowing of legs with dwarfism

Wells syndrome

Eosinophilic cellulitis

Werner syndrome

Adult progeria · WS

West syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

X-linked intellectual disability, Wittwer type

Wittwer syndrome