Rare Disease Library

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Angelman syndrome

Angora hair nevus

Schauder syndrome

Asherman 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

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

CHAND syndrome

Baughman syndrome · CHANDS

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

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gitelman syndrome

Glaucomatocyclitic crisis disease

Posner-Schlossman syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Hinman syndrome

HAS · HS

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

Lateral meningocele syndrome

Lehman syndrome

Mixed connective tissue disease

MCTD · Sharp syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

SCALP syndrome

Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome

SCARF syndrome

Scheie syndrome

MPS1S · MPSIS

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Scott syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome