P

• Pachydermoperiostosis

• Pachygyria

• Pachygyria, frontotemporal

• Pachygyria-intellectual disability-epilepsy syndrome

• Pachyonychia congenita

• Pacman dysplasia

• PACS1-related syndrome

• Paget disease of bone, familial

• Paget disease of the breast

• PAGOD syndrome

• Pagon Stephan syndrome

• Paine syndrome

• Painful legs and moving toes syndrome

• Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

• Palant cleft palate syndrome

• Palatopharyngeal incompetence

• Pallidopyramidal syndrome

• Pallister W syndrome

• Pallister-Hall syndrome

• Pallister-Killian mosaic syndrome

• Palmer Pagon syndrome

• Palmoplantar keratoderma

• Palmoplantar keratoderma of Sybert

• Palmoplantar keratoderma, epidermolytic

• Palmoplantar keratoderma-sclerodactyly syndrome

• Pancreatic adenoma

• Pancreatic cancer, childhood

• Pancreatic islet cell tumors

• Pancreatic lipomatosis duodenal stenosis

• Pancreatic neuroendocrine tumor

• Pancreatitis, pediatric

• Pancreatoblastoma

• PANDAS

• Panhypopituitarism X-linked

• Panostotic fibrous dysplasia

• Pantothenate kinase-associated neurodegeneration

• Panuveitis

• Papillary cystadenocarcinoma

• Papillary eccrine adenoma

• Papillary glioneuronal tumors

• Papillary renal cell carcinoma

• Papillary thyroid carcinoma

• Papilledema

• Papillon Lefevre syndrome

• Papular epidermal nevi with skyline basal cell layers syndrome

• Papular mucinosis

• Papular urticaria

• Paracoccidioidomycosis

• Paraganglioma and gastric stromal sarcoma

• Paragangliomas 1

• Paragangliomas 2

• Paragangliomas 3

• Paragangliomas 4

• Paragonimiasis

• Parainfluenza virus type 3

• Paralysis agitans, juvenile, of Hunt

• Paramyotonia congenita

• Paranasal sinus cancer, adult

• Paranasal sinus cancer, childhood

• Paraneoplastic cerebellar degeneration

• Paraneoplastic Neurologic Disorders

• Paraomphalocele

• Paraplegia

• Parapsoriasis

• Paraquat lung

• Parastremmatic dwarfism

• Parathyroid cancer, childhood

• Parathyroid carcinoma

• PARC syndrome

• Paris-Trousseau thrombocytopenia

• Parkes Weber syndrome

• Parkinson disease type 3

• Parkinson disease type 9

• Paroxysmal cold hemoglobinuria

• Paroxysmal exertion-induced dyskinesia

• Paroxysmal extreme pain disorder

• Paroxysmal hemicrania

• Paroxysmal kinesigenic choreoathetosis

• Paroxysmal nocturnal hemoglobinuria

• Paroxysmal ventricular fibrillation

• Paroxysomal nonkinesigenic dyskinesia

• Pars planitis

• Parsonage Turner syndrome

• Partial androgen insensitivity syndrome

• Partial atrioventricular canal

• Partial deletion of Y

• Partial duplication of the short arm of chromosome X

• Partington syndrome

• Parvovirus antenatal infection

• PASLI disease

• Passos-Bueno syndrome

• Pasteurella multocida infection

• Patel Bixler syndrome

• Patent ductus arteriosus

• Patent ductus venosus

• Paternal uniparental disomy of chromosome 14

• Patterned dystrophy of retinal pigment epithelium

• Patterson pseudoleprechaunism syndrome

• Patterson-Stevenson-Fontaine syndrome

• Pauciarticular chronic arthritis

• Pauciarticular onset juvenile idiopathic arthritis

• PCDH19-related female-limited epilepsy

• PDGFRB-associated chronic eosinophilic leukemia

• Pearson syndrome

• Pectus carinatum

• Pediatric acute-onset neuropsychiatric syndrome

• Pediatric Crohn's disease

• Pediatric hypertension

• Pediatric multiple sclerosis

• Pediatric T-cell leukemia

• Pediatric ulcerative colitis

• Peeling skin syndrome

• PEHO syndrome

• Pelger-Huet anomaly

• Pelizaeus-Merzbacher disease

• Pelizaeus-Merzbacher-like disease

• Pellagra

• Pellagra like syndrome

• Pellucid marginal degeneration

• Pelvic dysplasia arthrogryposis of lower limbs

• Pelvic lipomatosis

• Pemphigoid gestationis

• Pemphigus

• Pemphigus and fogo selvagem

• Pemphigus foliaceus

• Pemphigus vulgaris

• Pendred syndrome

• Penile cancer, adult

• Penile cancer, childhood

• Penis agenesis

• Penoscrotal transposition

• Pentalogy of Cantrell

• Pentosuria

• Penttinen-Aula syndrome

• PEPCK 1 deficiency

• PEPCK 2 deficiency

• Peptidic growth factors deficiency

• Perilymphatic fistula

• Perimyositis

• Perineurioma

• Periodic fever, aphthous stomatitis, pharyngitis and adenitis

• Periodontal Ehlers-Danlos syndrome

• Peripartum cardiomyopathy

• Peripheral resistance to thyroid hormones

• Peripheral T-cell lymphoma

• Periventricular heterotopia

• Periventricular leukomalacia

• Perlman syndrome

• Permanent neonatal diabetes mellitus

• Perniosis

• Peroxisomal beta-oxidation disorder

• Peroxisomal biogenesis disorders

• Peroxisome biogenesis disorder-Zellweger syndrome spectrum

• Perrault syndrome

• Perry syndrome

• Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly

• Persistent genital arousal disorder

• Persistent Mullerian duct syndrome

• Persistent truncus arteriosus

• Peters anomaly

• Peters plus syndrome

• Petit-Fryns syndrome

• Peutz-Jeghers syndrome

• Pfeiffer Kapferer syndrome

• Pfeiffer Mayer syndrome

• Pfeiffer Palm Teller syndrome

• Pfeiffer Rockelein syndrome

• Pfeiffer syndrome

• Pfeiffer Tietze Welte syndrome

• PGM1-CDG

• PGM3-CDG

• PHACE syndrome

• Phacomatosis pigmentokeratotica

• Phacomatosis pigmentovascularis

• Phaeohyphomycosis

• PHAVER syndrome

• Phenobarbital antenatal exposure

• Phenylketonuria

• Pheochromocytoma

• Pheochromocytoma, childhood

• Pheochromocytoma-islet cell tumor syndrome

• Philadelphia-negative chronic myeloid leukemia

• Phocomelia

• Phocomelia ectrodactyly deafness sinus arrhythmia

• Phosphoglycerate kinase deficiency

• Phosphoglycerate mutase deficiency

• Phosphomannoisomerase deficiency

• Phosphoribosylpyrophosphate synthetase deficiency

• Phosphoserine aminotransferase deficiency

• Photosensitive epilepsy

• Phyllodes tumor of the breast

• Phyllodes tumor of the prostate

• Pick's disease

• Piebaldism

• Piepkorn Karp Hickok syndrome

• Pierre Robin sequence

• Pierre Robin sequence with pectus excavatum and rib and scapular anomalies

• Pierre Robin syndrome skeletal dysplasia polydactyly

• Pierson syndrome

• Pigment-dispersion syndrome

• Pigmented purpuric dermatosis

• Pigmented villonodular synovitis

• PIK3CA-related overgrowth spectrum

• Pili annulati

• Pili torti

• Pili torti developmental delay neurological abnormalities

• Pili torti onychodysplasia

• Pillay syndrome

• Pilo dento ungular dysplasia microcephaly

• Pilocytic astrocytoma

• Pilodental dysplasia with refractive errors

• Pilomatrixoma

• Pilotto syndrome

• Pineal germ cell tumor

• Pineal parenchymal tumors of intermediate differentiation

• Pineoblastoma

• Pineoblastoma, childhood

• Pineocytoma

• Pinheiro Freire-Maia Miranda syndrome

• Pinta

• Piriformis syndrome

• Pitt-Hopkins syndrome

• Pitt-Hopkins-like syndrome

• Pituitary cancer

• Pituitary dwarfism with large sella turcica

• Pituitary hormone deficiency, combined 1

• Pituitary hormone deficiency, combined 3

• Pituitary hormone deficiency, combined 4

• Pituitary stalk interruption syndrome

• Pityriasis lichenoides

• Pityriasis lichenoides chronica

• Pityriasis lichenoides et varioliformis acuta

• Pityriasis rotunda

• Pityriasis rubra pilaris

• Piussan Lenaerts Mathieu syndrome

• Placenta disorder

• Plagiocephaly

• Plasma cell leukemia

• Plasmablastic lymphoma

• Plasmacytoma

• Plasmalogens synthesis deficiency isolated

• Plasminogen activator inhibitor type 1 deficiency

• Platelet storage pool deficiency

• Platyspondylic lethal skeletal dysplasia Torrance type

• Pleoconial myopathy with salt craving

• Pleomorphic xanthoastrocytoma

• Pleuropulmonary blastoma

• Plexosarcoma

• Plummer Vinson syndrome

• PMM2-CDG (CDG-Ia)

• Pneumocystic carinii pneumonia

• Pneumocystosis

• Pneumonia, eosinophilic

• Podder-Tolmie syndrome

• POEMS syndrome

• Poikiloderma with neutropenia

• Pointer syndrome

• Poland syndrome

• Poliomyelitis

• Polyarteritis nodosa

• Polyarticular onset juvenile idiopathic arthritis

• Polycystic bone disease

• Polycystic kidneys, severe infantile with tuberous sclerosis

• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

• Polycystic liver disease

• Polycythemia vera

• Polydactyly

• Polydactyly cleft lip palate psychomotor retardation

• Polydactyly myopia syndrome

• Polydactyly postaxial dental and vertebral

• Polydactyly syndrome middle ray duplication

• Polyembryoma

• Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome

• Polymicrogyria turricephaly hypogenitalism

• Polymorphic reticulosis

• Polymorphous low-grade adenocarcinoma

• Polymyositis

• Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

• Polyomavirus allograft nephropathy

• Polyosteolysis/hyperostosis syndrome

• Polyostotic osteolytic dysplasia, hereditary expansile

• Polysyndactyly cardiac malformation

• Polysyndactyly trigonocephaly agenesis of corpus callosum

• Poncet-Spiegler's cylindroma

• Pontine tegmental cap dysplasia

• Pontocerebellar hypoplasia

• Pontocerebellar hypoplasia type 1

• Pontocerebellar hypoplasia type 2

• Pontocerebellar hypoplasia type 3

• Pontocerebellar hypoplasia type 4

• Pontocerebellar hypoplasia type 5

• Pontocerebellar hypoplasia type 6

• Pontoneocerebellar Hypoplasia

• Popliteal pterygium syndrome

• Popliteal pterygium syndrome, Bartsocas-Papas type

• Porencephaly

• Porencephaly cerebellar hypoplasia internal malformations

• Porokeratosis of Mibelli

• Porokeratosis, disseminated superficial actinic 1

• Porokeratosis, disseminated superficial actinic 2

• Porphyria

• Porphyria cutanea tarda

• Portal hypertension due to infrahepatic block

• Positive rheumatoid factor polyarthritis

• Posner-Schlossman syndrome

• Post Polio syndrome

• Post-infectious myocarditis

• Post-Streptococcal Neurologic Disorders

• Post-transplant lymphoproliferative disease

• Post-traumatic epilepsy

• Posterior column ataxia

• Posterior column ataxia with retinitis pigmentosa

• Posterior urethral valves

• Posterior uveitis

• Posterior valve urethra

• Postnatal progressive microcephaly, seizures, and brain atrophy

• Postorgasmic illness syndrome

• Potassium aggravated myotonia

• Potato nose

• Potocki-Lupski syndrome

• Potocki-Shaffer syndrome

• Potter sequence

• PPM-X syndrome

• Prader-Willi habitus, osteopenia, and camptodactyly

• Prader-Willi syndrome

• Preaxial deficiency, postaxial polydactyly and hypospadias

• Preaxial polydactyly type 1

• Preaxial polydactyly type 2

• Preaxial polydactyly type 3

• Preaxial polydactyly type 4

• Precocious epileptic encephalopathy

• Precocious myoclonic encephalopathy

• Precocious puberty

• Precocious puberty, gonadotropin-dependent

• Prekallikrein deficiency, congenital

• Premature aging Okamoto type

• Presenile dementia, Kraepelin type

• Pretibial epidermolysis bullosa

• Priapism

• Primary agammaglobulinemia

• Primary amebic meningoencephalitis

• Primary angiitis of the central nervous system

• Primary basilar impression

• Primary biliary cholangitis

• Primary bone cancer

• Primary carnitine deficiency

• Primary central nervous system lymphoma

• Primary ciliary dyskinesia

• Primary cutaneous amyloidosis

• Primary effusion lymphoma

• Primary familial and congenital polycythemia

• Primary Familial Brain Calcification

• Primary Fanconi syndrome

• Primary hyperoxaluria type 1

• Primary hyperoxaluria type 2

• Primary hyperoxaluria type 3

• Primary hyperparathyroidism

• Primary hypomagnesemia with secondary hypocalcemia

• Primary intestinal lymphangiectasia

• Primary lateral sclerosis

• Primary liver cancer

• Primary malignant melanoma of the cervix

• Primary malignant melanoma of the conjunctiva

• Primary melanoma of the central nervous system

• Primary open angle glaucoma juvenile onset 1

• Primary orthostatic hypotension

• Primary orthostatic tremor

• Primary pigmented nodular adrenocortical disease

• Primary progressive aphasia

• Primary release disorder of platelets

• Primary sclerosing cholangitis

• Primary spontaneous pneumothorax

• Primary tubular proximal acidosis

• Primrose syndrome

• Prinzmetal's variant angina

• Progeria

• Progeria variant syndrome Ruvalcaba type

• Progeroid short stature with pigmented nevi

• Progeroid syndrome Petty type

• Progeroid syndrome, Penttinen type

• Prognathism mandibular

• Progressive bifocal chorioretinal atrophy

• Progressive black carbon hyperpigmentation of infancy

• Progressive bulbar palsy

• Progressive deafness with stapes fixation

• Progressive encephalomyelitis with rigidity and myoclonus

• Progressive external ophthalmoplegia, autosomal recessive 1

• Progressive familial heart block type 1A

• Progressive familial heart block type 1B

• Progressive familial heart block type 2

• Progressive familial intrahepatic cholestasis 1

• Progressive familial intrahepatic cholestasis type 2

• Progressive familial intrahepatic cholestasis type 3

• Progressive hemifacial atrophy

• Progressive kinking of the hair, acquired

• Progressive multifocal leukoencephalopathy

• Progressive myoclonic epilepsy

• Progressive non-fluent aphasia

• Progressive osseous heteroplasia

• Progressive pseudorheumatoid dysplasia

• Progressive supranuclear palsy

• Progressive supranuclear palsy atypical

• Progressive transformation of germinal centers

• Prolactinoma

• Prolidase deficiency

• Proliferating trichilemmal cyst

• Proliferative verrucous leukoplakia

• Proopiomelanocortin deficiency

• Properdin deficiency

• Properdin deficiency, X-linked

• Propionic acidemia

• Propriospinal myoclonus

• Prosencephaly cerebellar dysgenesis

• PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY

• Prostatic malacoplakia associated with prostatic abscess

• Prostatic stromal proliferation of uncertain malignant potential

• Prosthetic joint infection

• Protein R deficiency

• Protein S deficiency

• Proteus like syndrome mental retardation eye defect

• Proteus syndrome

• Proteus-like syndrome

• Prothrombin-related thrombophilia

• Protoporphyria

• Proud syndrome

• Proximal chromosome 18q deletion syndrome

• Proximal spinal muscular atrophy

• Proximal symphalangism

• Prune belly syndrome

• Prurigo nodularis

• Pruritic urticarial papules plaques of pregnancy

• Pseudo Pelger-Huet anomaly

• Pseudo-Turner syndrome

• Pseudo-Von Willebrand disease

• Pseudoachondroplasia

• Pseudoachondroplastic dysplasia 2

• Pseudoainhum

• Pseudoaminopterin syndrome

• Pseudoarylsulfatase A deficiency

• Pseudocholinesterase deficiency

• Pseudodiastrophic dysplasia

• Pseudohermaphrodism anorectal anomalies

• Pseudohyperkalemia Cardiff

• Pseudohypoaldosteronism type 2

• Pseudohypoparathyroidism

• Pseudohypoparathyroidism type 1A

• Pseudohypoparathyroidism type 1B

• Pseudohypoparathyroidism type 1C

• Pseudohypoparathyroidism type 2

• Pseudoinflammatory fundus dystrophy

• Pseudomarfanism

• Pseudomonas stutzeri infections

• Pseudomongolism

• Pseudomyotonia

• Pseudomyxoma peritonei

• Pseudoneonatal adrenoleukodystrophy

• Pseudopapilledema blepharophimosis hand anomalies

• Pseudopelade of Brocq

• Pseudopolycythaemia

• Pseudoprogeria syndrome

• Pseudopseudohypoparathyroidism

• Pseudotrisomy 13 syndrome

• Pseudotumor cerebri

• Pseudoxanthoma elasticum

• Pseudoxanthoma elasticum, forme fruste

• Psittacosis

• Psoriatic juvenile idiopathic arthritis

• Psychosocial short stature

• PTEN hamartoma tumor syndrome

• Pterigium Colli

• Pterygium colli mental retardation digital anomalies

• Pterygium of the conjunctiva and cornea

• Ptosis strabismus diastasis

• Ptosis strabismus ectopic pupils

• Pudendal Neuralgia

• Pulmonary alveolar microlithiasis

• Pulmonary arterial hypertension

• Pulmonary arterio-veinous fistula

• Pulmonary arteriovenous malformation

• Pulmonary artery agenesis

• Pulmonary artery coming from the aorta

• Pulmonary artery familial dilatation

• Pulmonary atresia with intact ventricular septum

• Pulmonary atresia with ventricular septal defect

• Pulmonary branches stenosis

• Pulmonary edema of mountaineers

• Pulmonary hyalinizing granuloma

• Pulmonary hypoplasia familial primary

• Pulmonary sequestration

• Pulmonary supravalvular stenosis

• Pulmonary surfactant protein B, deficiency of

• Pulmonary valve stenosis

• Pulmonary valves agenesis

• Pulmonary vein stenosis

• Pulmonary venoocclusive disease

• Pulmonary venous return anomaly

• Pulmonic stenosis

• Punctate acrokeratoderma freckle like pigmentation

• Punctate inner choroidopathy

• Punctate palmoplantar keratoderma type 2

• Punctate palmoplantar keratoderma type I

• Punctate porokeratosis

• PURA syndrome

• Pure autonomic failure

• Pure red cell aplasia

• Purine nucleoside phosphorylase deficiency

• Pustular psoriasis

• Pustulosis palmaris et plantaris

• Pycnodysostosis

• Pyknoachondrogenesis

• Pyle disease

• Pyoderma gangrenosum

• Pyogenic arthritis, pyoderma gangrenosum and acne

• Pyomyositis

• Pyridoxal 5'-phosphate-dependent epilepsy

• Pyridoxine deficiency

• Pyridoxine-dependent epilepsy

• Pyropoikilocytosis hereditary

• Pyruvate carboxylase deficiency

• Pyruvate decarboxylase deficiency

• Pyruvate dehydrogenase complex deficiency

• Pyruvate dehydrogenase phosphatase deficiency

• Pyruvate kinase deficiency

• Pyruvate kinase deficiency, liver type

• Pyruvate kinase deficiency, muscle type

• Pythiosis