Rare Disease Library

Genetic renal or urinary tract malformation

Genetic renal tubular disease

Genetic renal tumor

Genetic respiratory malformation

Genetic respiratory or mediastinal malformation

Genetic sebaceous gland anomaly

Genetic skeletal muscle disease

Genetic skin tumor or hamartoma

Genetic skin vascular disorder

Genetic soft tissue tumor

Genetic mesenchymal tumor

Genetic subcutaneous tissue disorder

Genetic superficial corneal dystrophy

Genetic susceptibility to infections due to particular pathogens

Genetic syndrome with a central nervous system malformation as a major feature

Genetic syndrome with a CNS malformation as major feature

Genetic syndrome with a cerebellar malformation as a major feature

Genetic syndrome with a Dandy-Walker malformation as a major feature

Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature

Genetic syndrome with limb malformations as a major feature

Genetic syndrome with limb reduction defects

Genetic syndromic esophageal malformation

Genetic syndromic Pierre Robin syndrome

Genetic systemic disease with glomerulopathy as a major feature

Genetic thrombotic microangiopathy

Genetic tracheal anomaly

Genetic transient congenital hypothyroidism

Genetic tumor of hematopoietic and lymphoid tissues

Genetic urogenital tract malformation

Genetic urogenital tumor

Genetic urticaria

Genetic vascular anomaly

Genetic visceral malformation of the liver, biliary tract, pancreas or spleen

Genitopalatocardiac syndrome

Gardner-Silengo-Wachtel syndrome

Genitopatellar syndrome

Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Genochondromatosis type 1

Genochondromatosis type 2

Germ cell tumor of testis

Testicular germ cell tumor

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Germinoma of the central nervous system

Geroderma osteodysplastica

Gerstmann syndrome

Gerstmann-Straussler-Scheinker syndrome

Subacute spongiform encephalopathy, Gerstmann-Straussler type

Gestational choriocarcinoma

Gestational trophoblastic disease

Gestational trophoblastic neoplasm

GTN

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Giant adenofibroma of the breast

Giant axonal neuropathy

GAN

Giant cell arteritis

Horton disease · Temporal arteritis