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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Progressive familial intrahepatic cholestasis type 5

ORPHA:480476Клин. под.
Autosomal recessive

Progressive hemifacial atrophy

ORPHA:1214Ауру
Not applicable

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN

ORPHA:675782Ауру
Autosomal recessive

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814Мальф.
Autosomal recessive

Progressive multifocal leukoencephalopathy

ORPHA:217260Ауру
Not applicable

Progressive muscular atrophy

ORPHA:454706Ауру
Not applicable

Progressive myoclonic epilepsy

ORPHA:98261Клин. топ

Progressive myoclonic epilepsy type 1

ORPHA:308Ауру
Autosomal recessive

Progressive myoclonic epilepsy type 3

ORPHA:263516Ауру
Autosomal recessive

Progressive myoclonic epilepsy type 5

ORPHA:402082Ауру
Autosomal dominant

Progressive myoclonic epilepsy type 6

ORPHA:280620Ауру
Autosomal recessive

Progressive myoclonic epilepsy type 7

ORPHA:435438Ауру
Autosomal dominant

Progressive myoclonic epilepsy type 8

ORPHA:424027Ауру
Autosomal recessive

Progressive myoclonic epilepsy type 9

ORPHA:457265Ауру
Autosomal recessive

Progressive myoclonic epilepsy with dystonia

ORPHA:352596Ауру
Autosomal recessive

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

ORPHA:530298Клин. под.

Progressive nodular histiocytosis

ORPHA:158022Ауру
Not applicable

Progressive non-fluent aphasia

ORPHA:100070Ауру
Multigenic/multifactorial, Not applicable

Progressive non-infectious anterior vertebral fusion

ORPHA:2062Мальф.
Not applicable

Progressive osseous heteroplasia

ORPHA:2762Мальф.
Autosomal dominant

Progressive polyneuropathy with bilateral striatal necrosis

ORPHA:217396Ауру
Autosomal recessive

Progressive pseudorheumatoid dysplasia

ORPHA:1159Ауру
Autosomal recessive

Progressive retinal dystrophy due to retinol transport defect

ORPHA:352718Ауру
Autosomal recessive

Progressive scapulohumeroperoneal distal myopathy

ORPHA:447977Ауру
Autosomal dominant