Rare Disease Library

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

PMP2-related Charcot-Marie-Tooth disease type 1

PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

Pyomyositis

Myositis purulenta tropica · Myositis tropicans

Lafora disease

EPM2 · PME type 2

Multiple mitochondrial dysfunctions syndrome type 6

PMPCB deficiency

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

Pelizaeus-Merzbacher disease

Diffuse familial brain sclerosis · PMD

Pelizaeus-Merzbacher-like disease

PMLD

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

PMLD1

Persistent Müllerian duct syndrome

PMDS · Persistent Müllerian derivatives

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Progressive multifocal leukoencephalopathy

PML · Progressive multifocal leukoencephalitis

Progressive muscular atrophy

PMA

Progressive myoclonic epilepsy

PME · Progressive myoclonus epilepsy

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

Progressive myoclonic epilepsy type 5

EPM5 · PME type 5

Progressive myoclonic epilepsy type 6

EPM6 · GOSR2-related progressive myoclonus ataxia

Progressive myoclonic epilepsy type 7

EPM7 · MEAK

Progressive myoclonic epilepsy type 8

EPM8 · PME type 8

Progressive myoclonic epilepsy type 9

EPM9 · PME type 9

Progressive myoclonic epilepsy with dystonia

PMED · Progressive myoclonus epilepsy with dystonia

Pseudomyxoma peritonei

Adenomucinosis · Gelatinous ascites

46,XX difference of sex development

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

46,XX difference of sex development induced by androgens excess

46,XX DSD induced by androgens excess · 46,XX disorder of sex development induced by androgens excess

46,XX difference of sex development induced by endogenous maternal-derived androgen

46,XX DSD induced by endogenous maternal-derived androgen · 46,XX disorder of sex development induced by endogenous maternal-derived androgen

46,XX difference of sex development induced by exogenous maternal-derived androgen

46,XX DSD induced by exogenous maternal-derived androgen · 46,XX disorder of sex development induced by exogenous maternal-derived androgen

46,XX difference of sex development induced by fetal androgens excess

46,XX DSD induced by fetal androgens excess · 46,XX disorder of sex development induced by fetal androgens excess

46,XX difference of sex development induced by fetoplacental androgens excess

46,XX DSD induced by fetoplacental androgens excess · 46,XX disorder of sex development induced by fetoplacental androgens excess

46,XX difference of sex development induced by maternal-derived androgen

46,XX disorder of sex development induced by maternal-derived androgen · 46,XX DSD induced by maternal-derived androgen

46,XX difference of sex development-anorectal anomalies syndrome

46,XX disorder of sex development-anorectal anomalies syndrome

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,XX ovotesticular difference of sex development

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

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

46,XY difference of sex development

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

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

46,XY difference of sex development due to a cholesterol synthesis defect

46,XY DSD due to a cholesterol synthesis defect · 46,XY disorder of sex development due to a cholesterol synthesis defect

46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY difference of sex development due to a testosterone synthesis defect

46,XY DSD due to a testosterone synthesis defect · 46,XY disorder of sex development due to a testosterone synthesis defect

46,XY difference of sex development due to adrenal and testicular steroidogenesis defect

46,XY DSD due to adrenal and testicular steroidogenesis defect · 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

46,XY difference of sex development due to impaired androgen production

46,XY DSD due to impaired androgen production · 46,XY disorder of sex development due to impaired androgen production

46,XY difference of sex development due to isolated 17,20-lyase deficiency

46,XY disorder of sex development due to isolated 17,20-lyase deficiency

46,XY difference of sex development due to testicular 17,20-desmolase deficiency

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

46,XY difference of sex development due to testicular steroidogenesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect · 46,XY DSD due to testicular steroidogenesis defect

46,XY difference of sex development induced by maternal exposure to endocrine disruptors

46,XY DSD induced by maternal-exposure to endocrine disruptors · 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors

46,XY difference of sex development of endocrine origin

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