Rare Disease Library

Permanent congenital hypothyroidism

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Pancreatic and cerebellar agenesis

Peroxisomal beta-oxidation disorder

Peroxisomal disease

Peroxisomal disease with epilepsy

Peroxisome biogenesis disorder

Peroxisome biogenesis disorder spectrum · Peroxisome biogenesis disorder-Zellweger spectrum disorder

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

Persistent combined dystonia

Persistent eustachian valve

Persistent fifth aortic arch

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

Persistent idiopathic facial pain

AFP · Atypical facial pain

Persistent left superior vena cava connecting through coronary sinus to left-sided atrium

Persistent left SVC connecting through coronary sinus to left-sided atrium

Persistent left superior vena cava connecting to the roof of left-sided atrium

Persistent left SVC connecting to the roof of left-sided atrium · Persistent left SVC connecting to left-sided atrium

Persistent Müllerian duct syndrome

PMDS · Persistent Müllerian derivatives

Persistent placoid maculopathy

Persistent polyclonal B-cell lymphocytosis

PPBL · Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes

Peters anomaly

Peters congenital glaucoma

Peters plus syndrome

Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome

Peutz-Jeghers syndrome

Hamartomatous intestinal polyposis · PJS

PFAPA syndrome

Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Pfeiffer syndrome type 2

Pfeiffer syndrome type 3

Pfeiffer-Palm-Teller syndrome

PGM1-CDG

CDG syndrome type It · CDG-It

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

Phacoanaphylactic uveitis

Endophthalmitis phacoanaphylactica · Lens-induced endophthalmitis

Phakomatosis cesioflammea

Phakomatosis pigmentovascularis type 2

Phakomatosis cesiomarmorata

Phakomatosis pigmentovascularis type 5

Phakomatosis pigmentokeratotica

Phakomatosis pigmentovascularis

Phakomatosis spilorosea

Phakomatosis pigmentovascularis type 3

Phalangeal microgeodic syndrome

Phalangeal osteolysis

Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

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

PHAVER syndrome

Powell-Chandra-Saal syndrome

Phelan-McDermid syndrome

Phelan-McDermid syndrome due to 22q13.3 deletion

22q13.3 deletion · Chromosome 22q13.3 deletion syndrome

Phelan-McDermid syndrome due to SHANK3 mutation

Phenobarbital embryopathy

Phenylketonuria

PKU

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Chung-Jansen syndrome · DIDOD

Phocomelia, Schinzel type

Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis