Rare Disease Library

Rare genetic bone development disorder

Rare genetic skeletal development disorder

46,XX difference of sex development

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

46,XX difference of sex development-skeletal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome

46,XX disorder of gonadal development

46,XY difference of sex development

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

46,XY disorder of gonadal development

Difference of sex development

DSD · Disorder of sex development

Genetic 46,XX difference of sex development

Genetic 46,XX DSD · Genetic 46,XX disorder of sex development

Genetic 46,XY difference of sex development

Genetic 46,XY DSD · Genetic 46,XY disorder of sex development

Genetic 46,XY difference of sex development of endocrine origin

Genetic 46,XY DSD of endocrine origin · Genetic 46,XY disorder of sex development of endocrine origin

Genetic dermis disorder

Genetic developmental defect of the eye

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

Genetic difference of sex development of gynecological interest

Genetic DSD of gynecological interest · Genetic disorder of sex development of gynecological interest

Genetic epidermal disorder

Genetic skeletal muscle disease

Genetic skin vascular disorder

GNAO1-related developmental delay-seizures-movement disorder spectrum

GNAO1-related spectrum · GNAO1-related neurodevelopmental disorder

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

OBSOLETE: Rare genetic choroidal disorder

Other genetic dermis disorder

Rare bone development disorder

Rare skeletal development disorder

Rare genetic autonomic nervous system disorder

Rare genetic coagulation disorder

Rare genetic corneal disorder

Rare genetic developmental defect during embryogenesis

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 disorder with entropion

Rare genetic disorder with strabismus

Rare genetic dystonia

Rare genetic dystonic disorder

Rare genetic eyelid malposition disorder

Rare genetic hyperkinetic movement disorder

Rare genetic macular disorder

Rare genetic movement disorder

Rare genetic neurological disorder

Rare genetic ocular motility/alignment disorder

Rare genetic odontal or periodontal disorder

Rare genetic ophthalmic disorder with cortical involvement

Rare genetic optic nerve disorder

Rare genetic palpebral disorder

Rare genetic parkinsonian disorder

Rare genetic hypokinetic movement disorder

Rare genetic retinal disorder

Rare genetic skin disease

Rare genodermatosis