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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Pontocerebellar hypoplasia type 11

ORPHA:611247Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 12

ORPHA:611256Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 13

ORPHA:613267Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 14

ORPHA:613274Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 2

ORPHA:2524Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 3

ORPHA:97249Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Мальф.
Autosomal recessive

Poorly differentiated thymic neuroendocrine carcinoma

ORPHA:263339Гист. под.
Not applicable

Popliteal pterygium syndrome

ORPHA:294963Клин. топ
Autosomal dominant

Porencephaly

ORPHA:2940Ауру
Multigenic/multifactorial, Not applicable

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Мальф.

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Мальф.
Autosomal recessive

Porokeratosis of Mibelli

ORPHA:735Ауру
Autosomal dominant, Not applicable

Porokeratosis plantaris palmaris et disseminata

ORPHA:737Ауру
Autosomal dominant, X-linked dominant

Porokeratotic eccrine ostial and dermal duct nevus

ORPHA:166286Ауру
Not applicable

Porphyria

ORPHA:738Клин. топ
Autosomal dominant, Autosomal recessive

Porphyria cutanea tarda

ORPHA:101330Ауру
Autosomal dominant, Multigenic/multifactorial

Porphyria due to ALA dehydratase deficiency

ORPHA:100924Ауру
Autosomal recessive

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA:2703Мальф.

Portosinusoidal vascular disease

ORPHA:596937Ауру