Rare Disease Library

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

Rare dyslipidemia

Rare dystonia

Rare dystonic disorder

Rare endocrine disease

Rare endocrine growth disease

Rare epilepsy

Rare epithelial tumor of colon

Rare epithelial tumor of pancreas

Rare pancreatic epithelial tumor

Rare epithelial tumor of rectum

Rare rectal epithelial tumor

Rare epithelial tumor of small intestine

Rare epithelial tumor of small bowel

Rare epithelial tumor of stomach

Rare gastric epithelial tumor

Rare eye tumor

Rare eyebrow/eyelash disorder

Rare eyebrow/eyelashes anomaly

Rare eyelid malposition disorder

Eyelids malposition disorder

Rare familial disorder with hypertrophic cardiomyopathy

Rare familial disorder with hypertrophic obstructive cardiomyopathy · Rare familial disorder with hypertrophic subaortic stenosis

Rare female infertility

Rare female infertility due to a congenital hypogonadotropic hypogonadism

Rare female infertility due to adrenal disorder of genetic origin

Rare female infertility due to an adrenal disorder

Rare female infertility due to an anomaly of ovarian function

Rare female infertility due to an anomaly of ovarian function of genetic origin

Rare female infertility due to an implantation defect