Rare Disease Library

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

Rare bone development disorder

Rare skeletal development disorder

Rare bone disease

Rare bone disease related to a common gene or pathway defect

Rare bone tumor

Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature

Rare breast malformation

Rare breast tumor

Rare bronchopulmonary and pleural cavity tumors

Rare cancer of cervix uteri

Rare cervical cancer · Rare cervical malignant tumor

Rare cancer of corpus uteri

Rare malignant tumor of corpus uteri

Rare capillary malformation

Rare capillary malformation with associated anomalies

Rare carcinoma of pancreas

Rare pancreatic carcinoma

Rare carcinoma of small intestine

Rare carcinoma of small bowel

Rare carcinoma of stomach

Rare gastric carcinoma

Rare cardiac disease

Rare cardiac rhythm disease

Rare cardiac tumor

Rare cause of hypertension

Rare central nervous system and retinal vascular disease