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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Pontocerebellar hypoplasia type 11

ORPHA:611247Порок
Autosomal recessive

Pontocerebellar hypoplasia type 12

ORPHA:611256Порок
Autosomal recessive

Pontocerebellar hypoplasia type 13

ORPHA:613267Порок
Autosomal recessive

Pontocerebellar hypoplasia type 14

ORPHA:613274Порок
Autosomal recessive

Pontocerebellar hypoplasia type 2

ORPHA:2524Порок
Autosomal recessive

Pontocerebellar hypoplasia type 3

ORPHA:97249Порок
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Порок
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Порок
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Порок
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Порок
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Порок
Autosomal recessive

Poorly differentiated thymic neuroendocrine carcinoma

ORPHA:263339Гист. подт.
Not applicable

Popliteal pterygium syndrome

ORPHA:294963Клин. гр.
Autosomal dominant

Porencephaly

ORPHA:2940Заболевание
Multigenic/multifactorial, Not applicable

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Порок

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Порок
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. гр.
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:2703Порок

Portosinusoidal vascular disease

ORPHA:596937Заболевание