Rare Disease Library

Rare genetic disorder of the anterior segment of the eye

Rare genetic disorder of the ocular adnexa

Rare genetic disorder of the posterior segment of the eye

Rare genetic disorder of the pupil

Rare genetic disorder of the visual organs

Rare genetic dystonia

Rare genetic dystonic disorder

Rare genetic hyperkinetic movement disorder

Rare genetic macular disorder

Rare genetic movement disorder

Rare genetic optic nerve disorder

Rare genetic parkinsonian disorder

Rare genetic hypokinetic movement disorder

Rare genetic retinal disorder

Rare genetic tremor disorder

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

Structural developmental eye defect of genetic origin

Syndrome with 46,XX difference of sex development

Syndrome with 46,XX DSD · Syndrome with 46,XX disorder of sex development

Syndrome with 46,XY difference of sex development

Syndrome with 46,XY disorder of sex development · Syndrome with 46,XY DSD

Syndrome with difference of sex development of gynecological interest

Syndrome with DSD of gynecological interest · Syndrome with disorder of sex development of gynecological interest