MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Pontocerebellar hypoplasia type 11

ORPHA:611247Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 12

ORPHA:611256Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 13

ORPHA:613267Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 14

ORPHA:613274Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 2

ORPHA:2524Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 3

ORPHA:97249Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Malform.
Autosomal recessive

Poorly differentiated thymic neuroendocrine carcinoma

ORPHA:263339Hist. sub.
Not applicable

Popliteal pterygium syndrome

ORPHA:294963Clin. grp.
Autosomal dominant

Porencephaly

ORPHA:2940Disease
Multigenic/multifactorial, Not applicable

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Malform.

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Malform.
Autosomal recessive

Porokeratosis of Mibelli

ORPHA:735Disease
Autosomal dominant, Not applicable

Porokeratosis plantaris palmaris et disseminata

ORPHA:737Disease
Autosomal dominant, X-linked dominant

Porokeratotic eccrine ostial and dermal duct nevus

ORPHA:166286Disease
Not applicable

Porphyria

ORPHA:738Clin. grp.
Autosomal dominant, Autosomal recessive

Porphyria cutanea tarda

ORPHA:101330Disease
Autosomal dominant, Multigenic/multifactorial

Porphyria due to ALA dehydratase deficiency

ORPHA:100924Disease
Autosomal recessive

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA:2703Malform.

Portosinusoidal vascular disease

ORPHA:596937Disease