Rare Disease Library

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

Rare disease with adrenal Cushing syndrome as a major feature

Rare disease with autism

Rare disease with dentinogenesis imperfecta

Rare disease with glaucoma as a major feature

Rare disease with malignant hyperthermia

Rare disease with myoclonus as a major feature

Rare disease with odontological manifestation

Rare disease with Pierre Robin syndrome

Rare disease with thoracic aortic aneurysm and aortic dissection

Rare disorder due to inadequate sharing of the placenta

Rare disorder due to poisoning

Rare disorder due to toxic effects

Rare disorder due to unbalanced inter-twin blood transfusion

Rare disorder involving multiple structures of the eye

Rare disorder of the anterior segment of the eye

Rare disorder of the lacrimal apparatus

Rare lacrimal system disease

Rare disorder of the ocular adnexa

Rare disorder of the posterior segment of the eye

Rare disorder of the pupil

Rare disorder of the visual organs

Rare disorder potentially indicated for bowel transplant