Rare Disease Library

Glaucomatocyclitic crisis disease

Posner-Schlossman syndrome

Angora hair nevus

Schauder syndrome

Ascher syndrome

Blepharochalasis-double lip syndrome

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hereditary mucoepithelial dysplasia

Urban-Schosser-Spohn syndrome

Hinman syndrome

HAS · HS

Lateral meningocele syndrome

Lehman syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Poland syndrome

Poland anomaly · Poland sequence

Postpoliomyelitis syndrome

Postpolio sequelae · Postpolio syndrome

Scheie syndrome

MPS1S · MPSIS

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Schnitzler syndrome

Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Werner syndrome

Adult progeria · WS