Rare Disease Library

Rabies

Rabson-Mendenhall syndrome

RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome

RAC2-related CID · Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2

Radial deficiency-tibial hypoplasia syndrome

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Schmitt-Gillenwater-Kelly syndrome

Radial ray hypoplasia-choanal atresia syndrome

Goldblatt-Viljoen syndrome

Radiation myelitis

Radiation proctitis

Radiation-induced disorder

Radiation-induced plexopathy

Radiculomegaly of canine teeth- congenital cataract

Marashi-Gorlin syndrome

Radio-renal syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Radio-ulnar synostosis-retinal pigment abnormalities syndrome

Buntinx-Lormans-Martin syndrome

Radioulnar synostosis-developmental delay-hypotonia syndrome

Der Kaloustian-McIntosh-Silver syndrome

Radioulnar synostosis-microcephaly-scoliosis syndrome

Giuffré-Tsukahara syndrome · Tsukahara syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Ramos-Arroyo syndrome

Corneal anesthesia-hearing loss-intellectual disability syndrome · Corneal anesthesia-deafness-intellectual disability syndrome

Ramsay Hunt syndrome

Facial nerve palsy due to herpes zoster infection · Facial nerve paralysis due to VZV

RAPADILINO syndrome

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

ROHHAD · ROHHADNET

Rapid-onset dystonia-parkinsonism

DYT12 · Dystonia 12

Rapidly involuting congenital hemangioma

RICH

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

Rare abdominal surgical disease

Rare acquired aplastic anemia

Rare acquired deficiency anemia

Rare acquired hemolytic anemia

Rare acquired premature ovarian failure

Rare adenocarcinoma of the breast

Rare adrenal disease

Rare adrenocortical nodular disease

Rare adrenocortical nodular disease with Cushing syndrome as a major feature

Rare adult hypothyroidism

Rare allergic disease

Rare allergy

Rare allergic respiratory disease

Rare respiratory allergy

Rare andrological tumor

Rare anemia

Rare aplastic anemia

Rare ataxia

Rare atrial defect and interatrial communication

Atrial defect and interauricular communication

Rare autonomic nervous system disorder

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Autosomal dominant isolated neurosensory deafness type DFNA · Autosomal dominant isolated neurosensory hearing loss type DFNA

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive isolated neurosensory hearing loss type DFNB · Autosomal recessive isolated neurosensory deafness type DFNB

Rare bacterial infectious disease

Rare benign breast tumor

Rare benign ovarian tumor

Rare biliary tract disease