Rare Disease Library

Posterior uveitis

Choroiditis

Postinfectious autoimmune disease with chorea

Postinfectious cerebellitis

PIC · Para-infectious cerebellitis

Postinfectious vasculitis

Postlingual non-syndromic genetic deafness

Isolated postlingual genetic deafness · Isolated postlingual genetic hearing loss

Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

Postpartum psychosis

Puerperal psychosis

Postpoliomyelitis syndrome

Postpolio sequelae · Postpolio syndrome

Postsynaptic congenital myasthenic syndrome

Posttransplant acute limbic encephalitis

PALE

Postural orthostatic tachycardia syndrome due to NET deficiency

Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency

Potassium-aggravated myotonia

K+-aggravated myotonia · K-aggravated myotonia

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Pouchitis

PPARG-related familial partial lipodystrophy

FPLD3 · Familial partial lipodystrophy type 3

PPoma

Pancreatic polypeptidoma

Prader-Willi syndrome due to imprinting mutation

Prader-Willi syndrome due to paternal 15q11q13 deletion

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

Prader-Willi syndrome due to translocation

Prader-Willi-like syndrome

PWS-like

PRC-2 complex-related overgrowth spectrum

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

Pre-Descemet corneal dystrophy

PDCD

Preaxial digit brachydactyly-webbed fingers

Preaxial brachydactyly, PAX3 type

Preaxial polydactyly-colobomata-intellectual disability syndrome

Pfeiffer-Mayer syndrome

Precursor B-cell acute lymphoblastic leukemia

B-ALL · Precursor B-cell acute lymphoblastic leukemia/lymphoma

Precursor T-cell acute lymphoblastic leukemia

Precursor T-cell acute lymphoblastic leukemia/lymphoma · Precursor T-cell acute lymphocytic leukemia

Predisposition to invasive fungal disease due to CARD9 deficiency

Invasive candidiasis-deep dermatophytosis syndrome

Predominantly large-vessel vasculitis

Predominantly medium-vessel vasculitis

Predominantly small-vessel vasculitis

Preeclampsia

Prelingual non-syndromic genetic deafness

Isolated prelingual genetic deafness · Isolated prelingual genetic hearing loss

Premature aging

Premature chromosome condensation with microcephaly and intellectual disability

Premature closure of the arterial duct

Premature closure of the patent ductus arteriosus

Prenatal benign hypophosphatasia

Prenatal benign phosphoethanolaminuria · Prenatal benign Rathbun disease

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Kugelberg-Welander disease · SMA

Prepubertal anorexia nervosa

Pressure-induced localized lipoatrophy

Semicircular lipoatrophy · Lipoatrophia semicircularis

Presynaptic congenital myasthenic syndromes

Primary acquired pure red cell aplasia

Primary acquired PRCA

Primary adrenal insufficiency

Primary adult heart tumor

Adult cardiac tumor · Adult heart tumor

Primary anetoderma

Primary macular atrophy

Primary angiitis of the central nervous system

Isolated angiitis of the central nervous system · PACNS