Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10 matching diseasesClear search ×

Weismann-Netter syndrome

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

ORPHA:3344

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

ORPHA:2379

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

ORPHA:1046

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

ORPHA:566943

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

ORPHA:652

Sturge-Weber syndrome

Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis

ORPHA:3205

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

ORPHA:3206

Weaver syndrome

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

ORPHA:3447

Werner syndrome

Adult progeria · WS

ORPHA:902

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

ORPHA:319182