Rare Disease Library

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 cardiomyopathy

Rare cause of hypertension

Rare central nervous system and retinal vascular disease

Rare central precocious puberty

Gonadotropin-dependant precocious puberty · Rare CPP

Rare central precocious puberty in female

Rare central precocious puberty in girl · Rare CPP in female

Rare choreic movement disorder

Rare choroidal disorder

Rare chromosomal anomaly

Rare circulatory system disease

Rare combined vascular malformation

Rare congenital anomaly of ventricular septum

Congenital ventricular septal anomaly · Congenital anomaly of interventricular communication

Rare congenital non-syndromic heart malformation

Rare conjunctivitis

Rare constitutional anemia

Rare constitutional aplastic anemia

Rare constitutional hemolytic anemia

Rare corneal disorder

Rare cutaneous lichen planus

Rare cutaneous LP

Rare cutaneous lupus erythematosus

Rare deafness

Rare hearing loss

Rare deficiency anemia

Rare dementia

Rare developmental defect during embryogenesis

Malformation syndrome

Rare developmental defect with connective tissue involvement

Rare developmental defect with skin/mucosae involvement

Rare diabetes mellitus

Rare diabetes mellitus type 1

Rare insulin-dependent diabetes mellitus

Rare diabetes mellitus type 2

Rare insulin-independent diabetes mellitus

Rare digestive tumor

Rare digestive cancer · Rare digestive neoplasm

Rare disease involving intestinal motility