Rare Disease Library

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

Rare disorder potentially indicated for heart transplant

Rare disorder potentially indicated for hematopoietic stem cell transplant

Rare disorder potentially indicated for kidney transplant

Rare disorder potentially indicated for liver transplant

Rare disorder potentially indicated for lung transplant

Rare disorder potentially indicated for transplant

Rare disorder potentially indicated for transplant or complication after transplantation

Rare disorder related to monochorionic twin pregnancy

Rare disorder related with pregnancy, childbirth and puerperium

Rare disorder with a moyamoya angiopathy

Rare disorder with conjunctival involvement as a major feature

Rare disorder with corneal involvement as a major feature

Rare disorder with dystonia and other neurologic or systemic manifestation

Rare disorder with ectropion

Rare disorder with entropion

Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism

Rare disorder with Hirschsprung disease as a major feature

Rare disorder with hypergonadotropic hypogonadism

Rare disorder with primary hypogonadism

Rare disorder with hypertrichosis

Rare disorder with lens opacification

Rare cataract

Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism

Rare disorder with obstructive azoospermia

Rare disorder due to impaired sperm transport

Rare disorder with optic disc malformation

Rare disorder with pigmented sclera

Rare disorder with ptosis

Rare disorder with strabismus

Rare disorder without a determined diagnosis after full investigation

Fully investigated rare disorder without a determined diagnosis