Rare Disease Library

Pontocerebellar hypoplasia type 1

Norman disease · PCH1

Pontocerebellar hypoplasia type 10

CLP1-related pontocerebellar hypoplasia · PCH10

Pontocerebellar hypoplasia type 11

Pontocerebellar hypoplasia due to TBC1D23 · PCH11

Pontocerebellar hypoplasia type 12

COASY-related pontocerebellar hypoplasia · PCH12

Pontocerebellar hypoplasia type 13

PCH13

Pontocerebellar hypoplasia type 14

PCH14

Pontocerebellar hypoplasia type 2

PCH2

Pontocerebellar hypoplasia type 3

Cerebellar atrophy with progressive microcephaly · PCH3

Pontocerebellar hypoplasia type 4

Fatal infantile encephalopathy with olivopontocerebellar hypoplasia · Olivopontocerebellar hypoplasia

Pontocerebellar hypoplasia type 5

Fetal-onset olivopontocerebellar hypoplasia · PCH5

Pontocerebellar hypoplasia type 6

Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6

Pontocerebellar hypoplasia type 7

PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

Pontocerebellar hypoplasia type 8

PCH8 · Pontocerebellar hypoplasia due to CHMP1A mutation

Pontocerebellar hypoplasia type 9

PCH9

Poorly differentiated thymic neuroendocrine carcinoma

Popliteal pterygium syndrome

Porencephaly

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

Bonnemann-Meinecke syndrome

Porencephaly-microcephaly-bilateral congenital cataract syndrome

Porokeratosis

Porokeratosis of Mibelli

Porokeratosis plantaris palmaris et disseminata

Palmar, plantar and disseminated porokeratosis

Porokeratotic eccrine ostial and dermal duct nevus

Comedo nevus of the palm · Porokeratotic eccrine nevus

Porphyria

Porphyria cutanea tarda

PCT

Porphyria due to ALA dehydratase deficiency

ALAD porphyria · Porphyria due to ALAD deficiency

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Portosinusoidal vascular disease

PSVD

Post 5-alpha-reductase inhibitors treatment syndrome

Post-selective serotonin reuptake inhibitor sexual dysfunction

PSSD · Post-SSRI sexual dysfunction

Post-transplant lymphoproliferative disease

PTLD

Post-traumatic pituitary deficiency

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Postaxial polydactyly type A

Postaxial polydactyly type B

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Culler-Jones syndrome

Postaxial polydactyly-dental and vertebral anomalies syndrome

Postaxial tetramelic oligodactyly

Postcardiotomy right ventricular failure

Postencephalitic parkinsonism

Posterior amorphous corneal dystrophy

PACD · Posterior amorphous stromal dystrophy

Posterior column ataxia-retinitis pigmentosa syndrome

Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP

Posterior corneal dystrophy

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Posterior extramedullary conus spinal cord lipoma

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Faulk-Epstein-Jones syndrome

Posterior polymorphous corneal dystrophy

PPCD · Posterior polymorphous dystrophy

Posterior urethral valve

PUV