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- PACD
- Review article
  - EN
- PAD
- Review article
  - EN
- Clinical practice guidelines
  - DE
- PAH deficiency
- Review article
  - FR (pdf,231ko)
- Guidance for genetic testing
  - EN
- Clinical practice guidelines
  - FR (pdf,366ko)
- Painful bladder syndrome
- Emergency guidelines
  - FR (pdf,133ko)
- Painful congenital myotonia
- Clinical practice guidelines
  - DE
- Painful myotonia
- Clinical practice guidelines
  - DE
- Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
- Review article
  - EN
- Palmoplantar keratoderma with arrythmogenic cardiomyopathy
- Review article
  - EN
- PAM
- Clinical practice guidelines
  - DE
- Pancreatic insufficiency - anemia - hyperostosis
- Clinical practice guidelines
  - DE
- Pancreatoblastoma
- Clinical practice guidelines
  - EN
- Panhypopituitarism
- Clinical practice guidelines
  - DE
- PAN, pediatric onset
- Clinical practice guidelines
  - DE
- Pantothenate-kinase-associated neurodegeneration
- Review article
  - EN
- Papillary or follicular thyroid carcinoma
- Review article
  - FR (pdf,670ko)
- Clinical practice guidelines
  - EN
- Papillo-renal syndrome
- Practical genetics
  - EN
- Guidance for genetic testing
  - EN
- Papulosis atrophican maligna
- Review article
  - EN
- Paramyotonia congenita
- Clinical practice guidelines
  - DE
- Paramyotonia congenita of Von Eulenburg
- Clinical practice guidelines
  - DE
- Paraneoplastic Cushing syndrome
- Clinical practice guidelines
  - ES (pdf,484ko)
- Paraneoplastic pemphigus
- Clinical practice guidelines
  - FR (pdf,316ko)
- Paroxysmal cold hemoglobinuria
- Clinical practice guidelines
  - FR (pdf,352ko)
- Paroxysmal dyskinesia
- Clinical practice guidelines
  - EN
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
- Clinical practice guidelines
  - EN
- Paroxysmal exertion-induced dyskinesia
- Clinical practice guidelines
  - EN
- Paroxysmal hypnogenic dyskinesia
- Clinical practice guidelines
  - EN
- Paroxysmal kinesigenic choreathetosis
- Clinical practice guidelines
  - EN
- Paroxysmal kinesigenic dyskinesia
- Clinical practice guidelines
  - EN
- Paroxysmal nocturnal hemoglobinuria
- Emergency guidelines
- Review article
  - FR (pdf,71ko)
- Emergency guidelines
  - EN (pdf,115ko)
- Paroxysmal non-kinesigenic dyskinesia
- Clinical practice guidelines
  - EN
- Paroxysmal ventricular fibrillation
- Emergency guidelines
- Partial chromosome Y deletion
- Practical genetics
  - EN
- Partial deficiency of methylmalonyl-CoA mutase
- Emergency guidelines
  - EN (pdf,19ko)
- Partial deletion 11q
- Review article
  - EN
- Partial gigantism - nevi - hemihypertrophy - macrocephaly
- Practical genetics
  - EN
- Partial hydatidiform mole
- Clinical practice guidelines
  - FR
- Partial mevalonate kinase deficiency
- Review article
  - FR (pdf,58ko)
- Partial molar pregnancy
- Clinical practice guidelines
  - FR
- Partington disease
- Review article
  - EN
- Pascual-Castroviejo syndrome type 2
- Clinical practice guidelines
  - DE
- Passwell-Goodman-Siprkowski syndrome
- Practical genetics
  - EN
- Patent arterial duct
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Patent ductus arteriosus
- Review article
  - EN
- Clinical practice guidelines
  - DE
- PCH
- Clinical practice guidelines
  - FR (pdf,352ko)
- PCH with optic atrophy
- Review article
  - EN
- PCH without dyskinesia
- Review article
  - EN
- PCNSL
- Clinical practice guidelines
  - DE
- PCT
- Emergency guidelines
- PDCD
- Review article
  - EN
- PDR
- Review article
  - EN
- PED
- Clinical practice guidelines
  - EN
- Pediatric polyarteritis nodosa
- Clinical practice guidelines
  - DE
- Pediatric systemic scleroderma
- Emergency guidelines
  - FR (pdf,263ko)
- Pediatric systemic sclerosis
- Emergency guidelines
  - FR (pdf,263ko)
- Peeling skin syndrome
- Practical genetics
  - EN
- Pelizaeus-Merzbacher brain sclerosis
- Clinical practice guidelines
  - DE
- Pelizaeus-Merzbacher disease
- Clinical practice guidelines
  - DE
- PELVIS syndrome
- Clinical practice guidelines
  - DE
- Pemphigoid gestationis
- Clinical practice guidelines
  - FR (pdf,233ko)
- Pemphigus vegetans
- Clinical practice guidelines
  - FR (pdf,316ko)
- Pemphigus vulgaris
- Clinical practice guidelines
  - FR (pdf,316ko)
- PEP syndrome
- Review article
  - EN (pdf,298ko)
- Periarteritis nodosa
- Review article
  - FR
- Clinical practice guidelines
  - DE
  - FR (pdf,537ko)
- Pericarditis
- Review article
  - EN (pdf,1834ko)
- Perinatal lethal Gaucher disease
- Practical genetics
  - EN
- Clinical practice guidelines
  - FR (pdf,462ko)
- Perinatal lethal hypophosphatasia
- Guidance for genetic testing
  - EN
- Perinatal lethal phosphoethanolaminuria
- Guidance for genetic testing
  - EN
- Perinatal lethal Rathburn disease
- Guidance for genetic testing
  - EN
- Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus
- Clinical practice guidelines
  - DE
- Periodic disease
- Guidance for genetic testing
  - EN (pdf,137ko)
- Emergency guidelines
- Clinical practice guidelines
  - FR
- Periodic paralysis type 3
- Clinical practice guidelines
  - DE
- Peripheral neuropathy and optic atrophy
- Guidance for genetic testing
  - EN
- Peroxisomal alanine-glyoxylate aminotransferase deficiency
- Clinical practice guidelines
  - EN
- Persistent Mullerian derivatives
- Clinical practice guidelines
  - DE
- Persistent Mullerian duct syndrome
- Clinical practice guidelines
  - DE
- Persistent patency of the arterial duct
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Peutz-Jeghers syndrome
- Clinical practice guidelines
  - EN
- PFCP
- Guidance for genetic testing
  - EN
- Pfeiffer syndrome
- Review article
  - EN
- PFIC
- Review article
  - EN
- PFIC2
- Clinical practice guidelines
  - ES
- PHACE syndrome
- Clinical practice guidelines
  - DE
- Pharmacogenetic myopathy of anesthesia
- Emergency guidelines
  - EN (pdf,178ko)
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Phelan-McDermid syndrome
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Phenotypic diarrhea
- Review article
  - EN
- Phenylalanine hydroxylase deficiency
- Review article
  - FR (pdf,231ko)
- Guidance for genetic testing
  - EN
- Clinical practice guidelines
  - FR (pdf,366ko)
- Phenylketonuria
- Review article
  - FR (pdf,231ko)
- Guidance for genetic testing
  - EN
- Clinical practice guidelines
  - FR (pdf,366ko)
- Phenylketonuria type 2
- Review article
  - FR (pdf,66ko)
  - EN (pdf,70ko)
- Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
- Review article
  - EN
- Phosphoethanolaminuria
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Phosphoribosylpyrophosphate synthetase superactivity
- Review article
  - EN (pdf,94ko)
- Phytanic acid oxidase deficiency
- Practical genetics
  - EN
- Clinical practice guidelines
  - DE
- PIBIDS syndrome
- Practical genetics
  - EN
- Pituitary apoplexy
- Clinical practice guidelines
  - DE
- Pituitary corticotroph micro-adenoma
- Review article
  - EN
- Clinical practice guidelines
  - ES (pdf,484ko)
- Pituitary dependent Cushing syndrome
- Review article
  - EN
- Clinical practice guidelines
  - ES (pdf,484ko)
- Pituitary stalk interruption syndrome
- Clinical practice guidelines
  - DE
- PJS
- Clinical practice guidelines
  - EN
- PKAN
- Review article
  - EN
- PKU
- Review article
  - FR (pdf,231ko)
- Guidance for genetic testing
  - EN
- Clinical practice guidelines
  - FR (pdf,366ko)
- PKU type 2
- Review article
  - FR (pdf,66ko)
  - EN (pdf,70ko)
- Placental site trophoblastic tumor
- Clinical practice guidelines
  - FR
- Pleomorphic rhabdomyosarcoma
- Clinical practice guidelines
  - DE
- Pleomorphic undifferentiated sarcoma
- Clinical practice guidelines
  - DE
- Plummer-Vinson syndrome
- Review article
  - EN
- PM
- Clinical practice guidelines
  - DE
- PMD
- Clinical practice guidelines
  - DE
- PMDS
- Clinical practice guidelines
  - DE
- PNH
- Review article
  - FR (pdf,71ko)
- Emergency guidelines
- POEMS syndrome
- Review article
  - EN (pdf,298ko)
- Poikiloderma of Kindler
- Anesthesia guidelines
  - EN (pdf,43ko)
- Emergency guidelines
  - FR
- Poikiloderma of Rothmund-Thomson
- Review article
  - EN
- Pokkuri death syndrome
- Clinical practice guidelines
  - FR
- Review article
  - EN
  - FR (pdf,1096ko)
- Emergency guidelines
- Polyarteritis nodosa
- Review article
  - FR
- Clinical practice guidelines
  - DE
  - FR (pdf,537ko)
- Polycythemia rubra vera
- Guidance for genetic testing
  - EN
- Polycythemia vera
- Guidance for genetic testing
  - EN
- Polydactyly - cleft lip/palate - psychomotor retardation
- Practical genetics
  - EN
- Guidance for genetic testing
  - EN
- Review article
  - EN
- Polymyositis
- Clinical practice guidelines
  - DE
- Polyneuropathy - Endocrinopathy - Plasma cell dyscrasia
- Review article
  - EN (pdf,298ko)
- Polyostotic fibrous dysplasia
- Review article
  - EN
- Pompe disease
- Clinical practice guidelines
  - EN
- Pontocerebellar hypoplasia type 1
- Review article
  - EN
- Pontocerebellar hypoplasia type 2
- Review article
  - EN
- Pontocerebellar hypoplasia type 3
- Review article
  - EN
- Pontocerebellar hypoplasia type 4
- Review article
  - EN
- Pontocerebellar hypoplasia type 5
- Review article
  - EN
- Pontocerebellar hypoplasia type 6
- Review article
  - EN
- Poorly differentiated neuroendocrine carcinoma of the bladder
- Review article
  - EN
- Poorly-differentiated thymic neuroendocrine carcinoma
- Review article
  - EN
- Porak and Durante disease
- Review article
  - FR (pdf,249ko)
- Guidance for genetic testing
  - EN
- Emergency guidelines
- Porencephaly
- Review article
  - EN (pdf,88ko)
- Porphyria cutanea tarda
- Emergency guidelines
- Porphyria due to ALA dehydratase deficiency
- Emergency guidelines
- Porphyria due to delta-Aminolevulinate dehydratase
- Emergency guidelines
- Porphyria due to delta-aminolevulinate dehydratase (ALAD)
- Emergency guidelines
- Porphyria of Doss
- Emergency guidelines
- Porphyria variegata
- Emergency guidelines
- Portal hypertension due to infrahepatic block
- Clinical practice guidelines
  - EN
- Portal vein thrombosis
- Clinical practice guidelines
  - EN
- Posterior amorphous corneal dystrophy
- Review article
  - EN
- Posterior amorphous stromal dystrophy
- Review article
  - EN
- Posterior polymorphous corneal dystrophy
- Review article
  - EN
- Posterior polymorphous dystrophy
- Review article
  - EN
- Post-transplant acute limbic encephalitis
- Clinical practice guidelines
  - DE
- Potassium-aggravated myotonia
- Clinical practice guidelines
  - DE
- Potassium-sensitive normokalemic periodic paralysis
- Clinical practice guidelines
  - DE
- PPCD
- Review article
  - EN
- Prader-Labhart-Willi syndrome
- Guidance for genetic testing
  - EN
- Anesthesia guidelines
  - EN (pdf,130ko)
- Review article
  - FR (pdf,445ko)
- Clinical practice guidelines
  - DE
  - FR (pdf,649ko)
- Practical genetics
  - EN
- Emergency guidelines
  - FR (pdf,136ko)
- Prader-Willi syndrome
- Guidance for genetic testing
  - EN
- Anesthesia guidelines
  - EN (pdf,130ko)
- Review article
  - FR (pdf,445ko)
- Clinical practice guidelines
  - DE
  - FR (pdf,649ko)
- Practical genetics
  - EN
- Emergency guidelines
  - FR (pdf,136ko)
- Prader-Willi syndrome due to imprinting mutation
- Clinical practice guidelines
  - FR (pdf,649ko)
- Emergency guidelines
  - FR
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Anesthesia guidelines
  - EN (pdf,130ko)
- Clinical practice guidelines
  - FR (pdf,649ko)
- Emergency guidelines
  - FR
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Anesthesia guidelines
  - EN (pdf,130ko)
- Clinical practice guidelines
  - FR (pdf,649ko)
- Emergency guidelines
  - FR
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Clinical practice guidelines
  - FR (pdf,649ko)
- Emergency guidelines
  - FR
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Clinical practice guidelines
  - FR (pdf,649ko)
- Emergency guidelines
  - FR
- Prader-Willi syndrome due to translocation
- Clinical practice guidelines
  - FR (pdf,649ko)
- Emergency guidelines
  - FR
- Precursor B-cell acute lymphoblastic leukemia
- Clinical practice guidelines
  - DE
- Precursor B-cell acute lymphoblastic leukemia/lymphoma
- Clinical practice guidelines
  - DE
- Precursor B-cell acute lymphocytic leukemia
- Clinical practice guidelines
  - DE
- Precursor B-cell acute lymphocytic leukemia/lymphoma
- Clinical practice guidelines
  - DE
- Precursor T-cell acute lymphoblastic leukemia
- Clinical practice guidelines
  - DE
- Precursor T-cell acute lymphoblastic leukemia/lymphoma
- Clinical practice guidelines
  - DE
- Precursor T-cell acute lymphocytic leukemia
- Clinical practice guidelines
  - DE
- Precursor T-cell acute lymphocytic leukemia/lymphoma
- Clinical practice guidelines
  - DE
- Pre-Descemet corneal dystrophy
- Review article
  - EN
- Pregnancy-related cholestasis
- Review article
  - EN
- Prenatal benign hypophosphatasia
- Guidance for genetic testing
  - EN
- Prenatal benign phosphoethanolaminuria
- Guidance for genetic testing
  - EN
- Prenatal benign Rathburn disease
- Guidance for genetic testing
  - EN
- Pretibial dystrophic epidermolysis bullosa
- Emergency guidelines
  - FR
- Anesthesia guidelines
  - EN (pdf,43ko)
- Prieur-Griscelli syndrome
- Guidance for genetic testing
  - EN (pdf,137ko)
- Primary achalasia
- Review article
  - EN
- Primary acquired sideroblastic anemia
- Clinical practice guidelines
  - EN (pdf,127ko)
  - FR (pdf,256ko)
- Primary Addison's disease
- Emergency guidelines
  - FR (pdf,168ko)
- Primary amyloidosis
- Review article
  - EN
- Primary biliary cirrhosis
- Review article
  - EN
- Primary blepharospasm
- Clinical practice guidelines
  - EN
- Primary brain lymphoma
- Clinical practice guidelines
  - DE
- Primary central nervous system lymphoma
- Clinical practice guidelines
  - DE
- Primary CNS lymphoma
- Clinical practice guidelines
  - DE
- Primary congenital erythrocytosis
- Guidance for genetic testing
  - EN
- Primary cryoglobulinemia
- Review article
  - EN
- Primary dystonia, DYT13 type
- Review article
  - EN
- Clinical practice guidelines
  - EN
- Primary dystonia, DYT21 type
- Clinical practice guidelines
  - EN
- Primary dystonia, DYT2 type
- Clinical practice guidelines
  - EN
- Primary dystonia, DYT4 type
- Review article
  - EN
- Clinical practice guidelines
  - EN
- Primary dystonia, DYT6 type
- Clinical practice guidelines
  - EN
- Primary dystonia with mixed phenotype
- Review article
  - EN
- Clinical practice guidelines
  - EN
- Primary familial amyloidosis of the cornea
- Review article
  - EN
- Primary familial and congenital polycythemia
- Guidance for genetic testing
  - EN
- Primary familial polycythemia
- Guidance for genetic testing
  - EN
- Primary hyperkalemic periodic paralysis
- Clinical practice guidelines
  - DE
- Primary hyperoxaluria type 1
- Clinical practice guidelines
  - EN
- Primary hyperPP
- Clinical practice guidelines
  - DE
- Primary intestinal lymphangiectasia
- Review article
  - EN
- Primary parathyroids hyperplasia
- Clinical practice guidelines
  - DE
- Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Primary sclerosing cholangitis
- Review article
  - EN
- Primary systemic amyloidosis
- Review article
  - EN
- Primary systemic carnitine deficiency
- Emergency guidelines
  - EN (pdf,18ko)
- Review article
  - EN
- Primary torsion dystonia with predominant craniocervical or upper limb onset
- Review article
  - EN
- Clinical practice guidelines
  - EN
- Primitive anophthalmia
- Review article
  - EN
- Progressive bulbar paralysis of childhood
- Review article
  - EN
- Progressive cutaneous systemic scleroderma
- Emergency guidelines
  - FR (pdf,263ko)
- Progressive cutaneous systemic sclerosis
- Emergency guidelines
  - FR (pdf,263ko)
- Progressive familial intrahepatic cholestasis
- Review article
  - EN
- Progressive familial intrahepatic cholestasis type 2
- Clinical practice guidelines
  - ES
- Progressive myoclonic epilepsy due to KCTD7 deficiency
- Emergency guidelines
  - FR
- Progressive myoclonic epilepsy type 1
- Emergency guidelines
  - FR
- Review article
  - FR (pdf,244ko)
- Progressive myoclonic epilepsy type 2
- Emergency guidelines
  - FR
- Review article
  - FR (pdf,470ko)
- Progressive myoclonic epilepsy type 3
- Emergency guidelines
  - FR
- Progressive myoclonic epilepsy type 6
- Emergency guidelines
  - FR
- Progressive neuronal degeneration of childhood with liver disease
- Clinical practice guidelines
  - DE
- Prolymphocytic variant of hairy cell leukemia
- Clinical practice guidelines
  - EN
- Prolymphocytic variant of HCL
- Clinical practice guidelines
  - EN
- Propionic acidemia
- Emergency guidelines
  - EN (pdf,19ko)
- Propionyl-CoA carboxylase deficiency
- Emergency guidelines
  - EN (pdf,19ko)
- Proteus syndrome
- Practical genetics
  - EN
- Protoporphyrinogen oxidase deficiency
- Emergency guidelines
- Proximal myotonic dystrophy
- Clinical practice guidelines
  - DE
- Proximal myotonic myopathy
- Clinical practice guidelines
  - DE
- Proximal spinal muscular atrophy
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Proximal spinal muscular atrophy type 1
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Proximal spinal muscular atrophy type 2
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Proximal spinal muscular atrophy type 3
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Proximal spinal muscular atrophy type 4
- Review article
  - EN
- Guidance for genetic testing
  - EN
- Pruriginous dystrophic epidermolysis bullosa
- Emergency guidelines
  - FR
- Anesthesia guidelines
  - EN (pdf,43ko)
- PSC
- Review article
  - EN
- Pseudo-Hurler polydystrophy
- Anesthesia guidelines
  - EN (pdf,32ko)
- Pseudohypoparathyroidism type 1A
- Guidance for genetic testing
  - EN
- Pseudohypoparathyroidism type 1B
- Guidance for genetic testing
  - EN
- Pseudohypoparathyroidism type 1C
- Guidance for genetic testing
  - EN
- Pseudohypoparathyroidism type 2
- Guidance for genetic testing
  - EN
- Pseudopseudohypoparathyroidism
- Guidance for genetic testing
  - EN
- PSIS
- Clinical practice guidelines
  - DE
- PSST
- Clinical practice guidelines
  - FR
- PTC syndrome
- Clinical practice guidelines
  - FR (pdf,207ko)
  - EN
- Pulmonary atresia with ventricular septal defect
- Clinical practice guidelines
  - FR (pdf,655ko)
- Pulmonary lymphangiomatosis
- Review article
  - EN
- Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus
- Clinical practice guidelines
  - FR (pdf,655ko)
- Pure cerebellar syndrome - mild pyramidal signs
- Review article
  - EN
- Clinical practice guidelines
  - DE
- Pure Joubert syndrome
- Review article
  - EN
- Practical genetics
  - EN
- Guidance for genetic testing
  - EN
- Purpura rheumatica
- Review article
  - FR (pdf,872ko)
- PUS
- Clinical practice guidelines
  - DE
- PV
- Guidance for genetic testing
  - EN
- PVA/PDA, non Fallot-type
- Clinical practice guidelines
  - FR (pdf,655ko)
- Pyoderma gangrenosum
- Review article
  - EN
- Pyroglutamicaciduria
- Review article
  - EN

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