MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Progressive familial intrahepatic cholestasis type 5

ORPHA:480476Клин. подтип
Autosomal recessive

Progressive hemifacial atrophy

ORPHA:1214Заболевание
Not applicable

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

ORPHA:675782Заболевание
Autosomal recessive

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814Мальформация
Autosomal recessive

Progressive multifocal leukoencephalopathy

ORPHA:217260Заболевание
Not applicable

Progressive muscular atrophy

ORPHA:454706Заболевание
Not applicable

Progressive myoclonic epilepsy

ORPHA:98261Клин. группа

Progressive myoclonic epilepsy type 1

ORPHA:308Заболевание
Autosomal recessive

Progressive myoclonic epilepsy type 3

ORPHA:263516Заболевание
Autosomal recessive

Progressive myoclonic epilepsy type 5

ORPHA:402082Заболевание
Autosomal dominant

Progressive myoclonic epilepsy type 6

ORPHA:280620Заболевание
Autosomal recessive

Progressive myoclonic epilepsy type 7

ORPHA:435438Заболевание
Autosomal dominant

Progressive myoclonic epilepsy type 8

ORPHA:424027Заболевание
Autosomal recessive

Progressive myoclonic epilepsy type 9

ORPHA:457265Заболевание
Autosomal recessive

Progressive myoclonic epilepsy with dystonia

ORPHA:352596Заболевание
Autosomal recessive

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

ORPHA:530298Клин. подтип

Progressive nodular histiocytosis

ORPHA:158022Заболевание
Not applicable

Progressive non-fluent aphasia

ORPHA:100070Заболевание
Multigenic/multifactorial, Not applicable

Progressive non-infectious anterior vertebral fusion

ORPHA:2062Мальформация
Not applicable

Progressive osseous heteroplasia

ORPHA:2762Мальформация
Autosomal dominant

Progressive polyneuropathy with bilateral striatal necrosis

ORPHA:217396Заболевание
Autosomal recessive

Progressive pseudorheumatoid dysplasia

ORPHA:1159Заболевание
Autosomal recessive

Progressive retinal dystrophy due to retinol transport defect

ORPHA:352718Заболевание
Autosomal recessive

Progressive scapulohumeroperoneal distal myopathy

ORPHA:447977Заболевание
Autosomal dominant