Rare Disease Library

PCNA-related progressive neurodegenerative photosensitivity syndrome

Pachyonychia congenita

PC

Isolated polycystic liver disease

ADPCLD · Autosomal dominant polycystic liver disease

Obesity due to prohormone convertase I deficiency

PCI deficiency

Paraneoplastic cerebellar degeneration

PCD · Subacute cerebellar degeneration

Paroxysmal cold hemoglobinuria

Donath-Landsteiner hemolytic anemia · Donath-Landsteiner syndrome

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Neurologic Waardenburg-Shah syndrome · PCWH

Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

PCB variant of GBS · PCB variant of Guillain-Barré syndrome

Plasma cell leukemia

PCL

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

Porphyria cutanea tarda

PCT

Posterior column ataxia-retinitis pigmentosa syndrome

Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Primary angiitis of the central nervous system

Isolated angiitis of the central nervous system · PACNS

Primary central nervous system lymphoma

PCNSL · Primary CNS lymphoma

Primary ciliary dyskinesia

PCD

Primary cutaneous diffuse large B-cell lymphoma, leg type

Diffuse large B-cell lymphoma · DLBCL

Primary cutaneous follicle center lymphoma

PCFCL

Primary cutaneous marginal zone B-cell lymphoma

PCMZL

Progressive cerebello-cerebral atrophy

PCCA

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

MYBPC1-related autosomal recessive non-lethal AMC syndrome

OBSOLETE: APC-related attenuated familial adenomatous polyposis

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

Primary peritoneal carcinoma

EOPPC · Extra-ovarian primary peritoneal carcinoma