Rare Disease Library

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

PMLD1

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Mitochondrial HSP60 chaperonopathy

Pellagra

Pellagra-like skin rash-neurological manifestations syndrome

Pellucid marginal degeneration

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Ray-Peterson-Scott syndrome

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Pemphigoid gestationis

Gestational pemphigoid

Pemphigus erythematosus

Seborrheic pemphigus · Senear-Usher syndrome

Pemphigus foliaceus

Pemphigus vegetans

Pemphigus vulgaris

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Penile agenesis

Aphallia · Penis agenesis

Penoscrotal transposition

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Pentasomy X syndrome

49,XXXXX syndrome · Penta-X

Pentosuria

Essential pentosuria · Xylitol dehydrogenase deficiency

Pericardial and diaphragmatic defect

Perifoveal exudative vascular anomalous complex

PEVAC

Perihilar cholangiocarcinoma

Hilar cholangiocarcinoma · Klatskin tumor

Perinatal lethal hypophosphatasia

Perinatal lethal phosphoethanolaminuria · Perinatal lethal Rathbun disease

Perineurioma

Periodic fever syndrome

Periodic fever syndrome of childhood

Periodic fever-immunodeficiency-thrombocytopenia syndrome

PFITS

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

NLRC4-related autoinflammatory syndrome with MAS · NLRC4-related MAS

Periodic paralysis

Periodic paralysis with later-onset distal motor neuropathy

Periodic paralysis with transient compartment-like syndrome

Periodontal Ehlers-Danlos syndrome

Periodontal EDS · EDS VIII

Peripapillary staphyloma

Peripartum cardiomyopathy

Postpartum cardiomyopathy

Peripheral arteriovenous malformation

Peripheral AVM

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

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

Neurologic Waardenburg-Shah syndrome · PCWH

Peripheral fast-flow vascular malformation

Peripheral arteriovenous malformation

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

Peripheral neuropathy associated with monoclonal gammopathy

Peripheral primitive neuroectodermal tumor

Peripheral neuroepithelioma · PPNET

Peripheral pulmonary stenosis

Branch pulmonary artery stenosis · Pulmonary branch stenosis

Peritoneal inclusion cyst

Benign multicystic peritoneal mesothelioma · Multicystic mesothelioma

Peritoneal mesothelioma in situ

Perivascular epithelioid cell neoplasm

Perivascular epithelioid tumour · PEComa

Periventricular nodular heterotopia

PVNH

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome