MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Pontocerebellar hypoplasia type 11

ORPHA:611247Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 12

ORPHA:611256Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 13

ORPHA:613267Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 14

ORPHA:613274Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 2

ORPHA:2524Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 3

ORPHA:97249Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Мальформация
Autosomal recessive

Poorly differentiated thymic neuroendocrine carcinoma

ORPHA:263339Гист. подтип
Not applicable

Popliteal pterygium syndrome

ORPHA:294963Клин. группа
Autosomal dominant

Porencephaly

ORPHA:2940Заболевание
Multigenic/multifactorial, Not applicable

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Мальформация

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Мальформация
Autosomal recessive

Porokeratosis of Mibelli

ORPHA:735Заболевание
Autosomal dominant, Not applicable

Porokeratosis plantaris palmaris et disseminata

ORPHA:737Заболевание
Autosomal dominant, X-linked dominant

Porokeratotic eccrine ostial and dermal duct nevus

ORPHA:166286Заболевание
Not applicable

Porphyria

ORPHA:738Клин. группа
Autosomal dominant, Autosomal recessive

Porphyria cutanea tarda

ORPHA:101330Заболевание
Autosomal dominant, Multigenic/multifactorial

Porphyria due to ALA dehydratase deficiency

ORPHA:100924Заболевание
Autosomal recessive

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA:2703Мальформация

Portosinusoidal vascular disease

ORPHA:596937Заболевание