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P11pDS see Potocki-Shaffer syndrome
P450C11B1 deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
PA-JEB see epidermolysis bullosa with pyloric atresia
pachyonychia congenita
Paget disease of bone
Pagetoid amyotrophic lateral sclerosis see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Pagetoid neuroskeletal syndrome see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Paget's Disease of Bone see Paget disease of bone
PAH see pulmonary arterial hypertension
PAH deficiency see phenylketonuria
Pain
pain insensitivity, congenital see congenital insensitivity to pain
Pallister-Hall syndrome
Pallister-Killian mosaic syndrome
palmoplantar keratoderma mutilans see Vohwinkel syndrome
palmoplantar keratoderma with deafness
PAM see potassium-aggravated myotonia
Pancreas Transplantation see type 1 diabetes
Pancreatic Diseases
Pancreatitis
panhypopituitarism see combined pituitary hormone deficiency
pantothenate kinase-associated neurodegeneration
papillorenal syndrome see renal coloboma syndrome
Paraganglioma see hereditary paraganglioma-pheochromocytoma; nonsyndromic paraganglioma
paragangliomas 1 see hereditary paraganglioma-pheochromocytoma
paragangliomas 2 see hereditary paraganglioma-pheochromocytoma
paragangliomas 3 see hereditary paraganglioma-pheochromocytoma
paragangliomas 4 see hereditary paraganglioma-pheochromocytoma
Paralysis
Paralysis periodica paramyotonia see paramyotonia congenita
paralytic ileus see intestinal pseudo-obstruction
paramyotonia congenita
Parathyroid Disorders
Parkes Weber syndrome
Parkinson disease
Parkinsonian Disorders
parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease see hypermanganesemia with dystonia, polycythemia, and cirrhosis
parkinsonism with alveolar hypoventilation and mental depression see Perry syndrome
Parkinson's Disease see Parkinson disease
paroxysmal dystonic choreoathetosis see familial paroxysmal nonkinesigenic dyskinesia
paroxysmal extreme pain disorder
paroxysmal kinesigenic choreoathetosis see familial paroxysmal kinesigenic dyskinesia
paroxysmal kinesigenic dyskinesia see familial paroxysmal kinesigenic dyskinesia
paroxysmal nocturnal hemoglobinuria
paroxysmal nonkinesigenic dyskinesia see familial paroxysmal nonkinesigenic dyskinesia
11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
partial facial palsy with urinary abnormalities see Ochoa syndrome
partial monosomy 4p see Wolf-Hirschhorn syndrome
partial monosomy 17p see Smith-Magenis syndrome
Patau syndrome see trisomy 13
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits see Char syndrome
Pattern baldness see androgenetic alopecia
paucity of interlobular bile ducts see Alagille syndrome
PBD, ZSS see Zellweger spectrum
PBT see piebaldism
PC deficiency see pyruvate carboxylase deficiency
PCC deficiency see propionic acidemia
PCD see primary ciliary dyskinesia
PCH see pontocerebellar hypoplasia
PD see Parkinson disease; prolidase deficiency
PDB see Paget disease of bone
PDC see familial paroxysmal nonkinesigenic dyskinesia
PDD see Camurati-Engelmann disease
PDE see pyridoxine-dependent epilepsy
PDGFRA-associated chronic eosinophilic leukemia
PDGFRB-associated chronic eosinophilic leukemia
PDH deficiency see pyruvate dehydrogenase deficiency
PDHC deficiency see pyruvate dehydrogenase deficiency
pediatric granulomatous arthritis see Blau syndrome
Pelizaeus-Merzbacher disease
Pelletier-Leisti syndrome see Floating-Harbor syndrome
pelvic horn syndrome see nail-patella syndrome
Pendred syndrome
PEO see progressive external ophthalmoplegia
PEPD see paroxysmal extreme pain disorder
Pepper syndrome see Cohen syndrome
peptidase deficiency see prolidase deficiency
Periodic Disease see familial Mediterranean fever
periodic fever, Dutch type see mevalonate kinase deficiency
periodic neutropenia see cyclic neutropenia
Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome
Periodic peritonitis see familial Mediterranean fever
Periodic vomiting see cyclic vomiting syndrome
periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
Peripheral Nerve Disorders
Peripheral Neurofibromatosis see neurofibromatosis type 1
periventricular heterotopia
permanent neonatal diabetes mellitus
peroneal muscular atrophy see Charcot-Marie-Tooth disease
peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria
Peroxisomal Disorders
peroxisome biogenesis disorders, Zellweger syndrome spectrum see Zellweger spectrum
Perry syndrome
persistent hyperinsulinemia hypoglycemia of infancy see familial hyperinsulinism
persistent hyperinsulinemic hypoglycemia see familial hyperinsulinism
persistent M�llerian duct syndrome
Peters plus syndrome
petit mal, impulsive see juvenile myoclonic epilepsy
Peutz-Jeghers syndrome
PEXPD see paroxysmal extreme pain disorder
PFD see McCune-Albright syndrome
Pfeiffer syndrome
PFM see enlarged parietal foramina
PGA I see autoimmune polyglandular syndrome, type 1
PGAM deficiency see phosphoglycerate mutase deficiency
PGAMM deficiency see phosphoglycerate mutase deficiency
PGK deficiency see phosphoglycerate kinase deficiency
PGK1 deficiency see phosphoglycerate kinase deficiency
PHA1 see pseudohypoaldosteronism type 1
Phelan-McDermid syndrome see 22q13.3 deletion syndrome
Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria
phenylketonuria
Pheochromocytoma
PHHI hypoglycemia see familial hyperinsulinism
PhK deficiency see glycogen storage disease type IX
phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome
Phosphoethanolaminuria see hypophosphatasia
phosphoglycerate kinase deficiency
phosphoglycerate mutase deficiency
phosphomannomutase 2 deficiency see congenital disorder of glycosylation type Ia
phosphoribosylpyrophosphate synthetase superactivity
phosphorylase b kinase deficiency see glycogen storage disease type IX
phosphorylase kinase deficiency see glycogen storage disease type IX
PHS see Pallister-Hall syndrome; Pitt-Hopkins syndrome
phytanic acid storage disease see Refsum disease
PIBIDS see trichothiodystrophy
piebald trait see piebaldism
piebaldism
Piepkorn dysplasia see boomerang dysplasia
Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweym�ller syndrome
Pigmentary cirrhosis see hemochromatosis
pigmentary retinopathy see retinitis pigmentosa
pilomatricoma
pilomatrixoma see pilomatricoma
Pitt-Hopkins syndrome
pituitary ACTH hypersecretion see Cushing disease
pituitary Cushing syndrome see Cushing disease
pituitary-dependant Cushing syndrome see Cushing disease
pituitary-dependant hypercortisolism see Cushing disease
pituitary diabetes insipidus see neurohypophyseal diabetes insipidus
Pituitary Disorders
Pityriasis Rubra Pilaris see familial pityriasis rubra pilaris
PJS see Peutz-Jeghers syndrome
PK deficiency see pyruvate kinase deficiency
PKAN see pantothenate kinase-associated neurodegeneration
PKD see polycystic kidney disease; pyruvate kinase deficiency
PKS see Pallister-Killian mosaic syndrome
PKU see phenylketonuria
PKWS see Parkes Weber syndrome
Platelet Disorders
platyspondylic lethal skeletal dysplasia, Torrance type
Pleural Disorders see primary spontaneous pneumothorax
PLO-SL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
PLOSL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
PLSD-T see platyspondylic lethal skeletal dysplasia, Torrance type
PLSJ see juvenile primary lateral sclerosis
PMA see Charcot-Marie-Tooth disease
PMC see paramyotonia congenita
PMD see Pelizaeus-Merzbacher disease
PMDS see persistent M�llerian duct syndrome
PME see Unverricht-Lundborg disease
PME with ataxia see PRICKLE1-related progressive myoclonus epilepsy with ataxia
PMG see polymicrogyria
PMM deficiency see congenital disorder of glycosylation type Ia
PMM2-CDG see congenital disorder of glycosylation type Ia
PNDM see permanent neonatal diabetes mellitus
pneumothorax see primary spontaneous pneumothorax
PNKD see familial paroxysmal nonkinesigenic dyskinesia
PNP deficiency see purine nucleoside phosphorylase deficiency
PNPO Deficiency see pyridoxal 5'-phosphate-dependent epilepsy
PNPO-Related Neonatal Epileptic Encephalopathy see pyridoxal 5'-phosphate-dependent epilepsy
POFD see McCune-Albright syndrome
POH see progressive osseous heteroplasia
Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
Poikiloderma Congenitale see Rothmund-Thomson Syndrome
Poland syndrome
POLIP see mitochondrial neurogastrointestinal encephalopathy disease
polycystic kidney disease
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
polycythemia vera
Polydystrophic Dwarfism see mucopolysaccharidosis type VI
Polyendocrinopathies, Autoimmune see autoimmune polyglandular syndrome, type 1
Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune see autoimmune polyglandular syndrome, type 1
Polyglandular autoimmune syndrome, type 1 see autoimmune polyglandular syndrome, type 1
Polyglandular Type I Autoimmune Syndrome see autoimmune polyglandular syndrome, type 1
polyglucosan body disease, adult form see adult polyglucosan body disease
polymicrogyria
Polymicrogyria with muscular dystrophy see Fukuyama congenital muscular dystrophy
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction see mitochondrial neurogastrointestinal encephalopathy disease
Polyostotic Fibrous Dysplasia see McCune-Albright syndrome
Polyposis coli see familial adenomatous polyposis
polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome
polyposis, intestinal, II see Peutz-Jeghers syndrome
polyps-and-spots syndrome see Peutz-Jeghers syndrome
Pompe disease
pontobulbar palsy with deafness see Brown-Vialetto-Van Laere syndrome
pontocerebellar hypoplasia
popliteal pterygium syndrome
POR Deficiency see cytochrome P450 oxidoreductase deficiency
PORD see cytochrome P450 oxidoreductase deficiency
porencephaly type 1 see familial porencephaly
porphyria
porphyrin disorder see porphyria
Porteous syndrome see Renpenning syndrome
Portuguese polyneuritic amyloidosis see transthyretin amyloidosis
Portuguese type familial amyloid neuropathy see transthyretin amyloidosis
postaxial acrofacial dysostosis (POADS) see Miller syndrome
potassium-aggravated myotonia
Potocki-Shaffer syndrome
PPCA deficiency see galactosialidosis
PPH see pulmonary arterial hypertension
PPK-deafness syndrome see palmoplantar keratoderma with deafness
PPK mutilans Vohwinkel see Vohwinkel syndrome
PPK with deafness see palmoplantar keratoderma with deafness
PPM-X syndrome
PPMX see PPM-X syndrome
PPS see popliteal pterygium syndrome
PPSH see 5-alpha reductase deficiency
Prader-Labhart-Willi syndrome see Prader-Willi syndrome
Prader-Willi syndrome
preaxial acrofacial dysostosis see Nager syndrome
preaxial mandibulofacial dysostosis see Nager syndrome
precocious pseudopuberty see familial male-limited precocious puberty
pregnancy-related cholestasis see intrahepatic cholestasis of pregnancy
Premature Ovarian Failure
premature ovarian failure 1 see fragile X-associated primary ovarian insufficiency
Presenile and senile dementia see Alzheimer disease
Presenile dementia with bone cysts see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
PRICKLE1-related progressive myoclonus epilepsy with ataxia
Prieur-Griscelli syndrome see neonatal onset multisystem inflammatory disease
primary autosomal recessive microcephaly see autosomal recessive primary microcephaly
primary blepharospasm see benign essential blepharospasm
primary carnitine deficiency
primary ciliary dyskinesia
primary eosinophilia with chronic myeloproliferative disorder see PDGFRB-associated chronic eosinophilic leukemia
primary erythromelalgia see erythromelalgia
primary familial polycythemia see familial erythrocytosis
Primary Hemochromatosis see hemochromatosis
primary hemophagocytic hymphohistiocytosis see familial hemophagocytic lymphohistiocytosis
Primary Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
primary hyperoxaluria
primary hyperphosphatemic tumoral calcinosis see hyperphosphatemic familial tumoral calcinosis
primary hyperuricemia syndrome see Lesch-Nyhan syndrome
primary hypoalphalipoproteinemia see familial HDL deficiency
Primary Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
primary lateral sclerosis, juvenile see juvenile primary lateral sclerosis
primary myelofibrosis
primary parkinsonism see Parkinson disease
primary polycythemia see polycythemia vera
primary pulmonary hypertension see pulmonary arterial hypertension
primary sclerosing cholangitis
Primary Senile Degenerative Dementia see Alzheimer disease
primary spontaneous pneumothorax
primary thrombocythemia see essential thrombocythemia
primary thrombocytosis see essential thrombocythemia
Primary torsion dystonia see early-onset primary dystonia
prion disease
PROC deficiency see protein C deficiency
Progeria see Hutchinson-Gilford progeria syndrome
progeria-like syndrome see Cockayne syndrome
progeroid nanism see Cockayne syndrome
progressive bulbar palsy with sensorineural deafness see Brown-Vialetto-Van Laere syndrome
progressive cardiomyopathic lentiginosis see multiple lentigines syndrome
Progressive Chorea, Chronic Hereditary (Huntington) see Huntington disease
progressive external ophthalmoplegia
progressive familial intrahepatic cholestasis
progressive muscular atrophy see spinal muscular atrophy
Progressive muscular dystrophy, oculopharyngeal type see oculopharyngeal muscular dystrophy
progressive myoclonic epilepsy see Unverricht-Lundborg disease
progressive myoclonic epilepsy 1B see PRICKLE1-related progressive myoclonus epilepsy with ataxia
progressive myoclonic epilepsy type 2 see Lafora progressive myoclonus epilepsy
progressive myoclonus epilepsy 1 see Unverricht-Lundborg disease
progressive myoclonus epilepsy, Lafora type see Lafora progressive myoclonus epilepsy
progressive myoclonus epilepsy with ataxia see PRICKLE1-related progressive myoclonus epilepsy with ataxia
Progressive myositis ossificans see fibrodysplasia ossificans progressiva
progressive osseous heteroplasia
progressive ossifying myositis see fibrodysplasia ossificans progressiva
progressive pseudorheumatoid dysplasia
progressive pseudorheumatoid dysplasia with hypoplastic toes see Czech dysplasia
progressive scleroderma see systemic scleroderma
progressive sclerosing poliodystrophy see Alpers-Huttenlocher syndrome
progressive supranuclear palsy
progressive tapetochoroidal dystrophy see choroideremia
prolidase deficiency
proline oxidase deficiency see hyperprolinemia
prolinemia see hyperprolinemia
prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
PROP see propionic acidemia
propionic acidemia
protein C deficiency
protein S deficiency
Proteus syndrome
prothrombin deficiency
prothrombin thrombophilia
proximal 11p deletion syndrome see Potocki-Shaffer syndrome
PRPP synthetase overactivity see phosphoribosylpyrophosphate synthetase superactivity
PRPP synthetase superactivity see phosphoribosylpyrophosphate synthetase superactivity
PRPS1 superactivity see phosphoribosylpyrophosphate synthetase superactivity
PRS overactivity see phosphoribosylpyrophosphate synthetase superactivity
PRS superactivity see phosphoribosylpyrophosphate synthetase superactivity
PRV see polycythemia vera
PS see Proteus syndrome
PSACH see pseudoachondroplasia
PSC see primary sclerosing cholangitis
Pseudo-Hurler Polydystrophy see mucolipidosis III alpha/beta; mucolipidosis III gamma
pseudo-TORCH syndrome see Aicardi-Goutieres syndrome
pseudo-Ullrich-Turner syndrome see Noonan syndrome
pseudoachondroplasia
pseudoachondroplastic dysplasia see pseudoachondroplasia
pseudoachondroplastic spondyloepiphyseal dysplasia syndrome see pseudoachondroplasia
pseudoaldosteronism see Liddle syndrome
pseudocholinesterase deficiency
pseudoglioma congenita see Norrie disease
pseudohermaphroditism, male, with gynecomastia see 17-beta hydroxysteroid dehydrogenase 3 deficiency
Pseudohypoaldosteronism
pseudohypoaldosteronism type 1
pseudohypoaldosteronism type 2
pseudointestinal obstruction syndrome see intestinal pseudo-obstruction
pseudoobstructive syndrome see intestinal pseudo-obstruction
pseudoprimary hyperaldosteronism see Liddle syndrome
Pseudothalidomide syndrome see Roberts syndrome
pseudotoxoplasmosis syndrome see Aicardi-Goutieres syndrome
Pseudovaginal perineoscrotal hypospadias see 5-alpha reductase deficiency
pseudoxanthoma elasticum
Psoriasis see psoriatic arthritis
psoriatic arthritis
PSP see primary spontaneous pneumothorax; progressive supranuclear palsy
psychosine lipidosis see Krabbe disease
Psychotic Disorders see PPM-X syndrome
pterygium syndrome see multiple pterygium syndrome
PTHS see Pitt-Hopkins syndrome
pubertas praecox see familial male-limited precocious puberty
Puberty see familial male-limited precocious puberty
Puberty, Precocious see familial male-limited precocious puberty
pulmonary arterial hypertension
Pulmonary Embolism
Pulmonary Fibrosis
Pulmonary Hypertension
pulmonary surfactant metabolism dysfunction see surfactant dysfunction
Pure gonadal dysgenesis 46,XY see Swyer syndrome
pure hereditary red cell aplasia see Diamond-Blackfan anemia
Puretic syndrome see juvenile hyaline fibromatosis
purine nucleoside phosphorylase deficiency
Purpura, Thrombocytopenic see thrombotic thrombocytopenic purpura
Purpura, Thrombotic Thrombocytopenic see thrombotic thrombocytopenic purpura
Purtilo syndrome see X-linked lymphoproliferative disease
PV see polycythemia vera
PWS see Prader-Willi syndrome
PXE see pseudoxanthoma elasticum
PYGM deficiency see glycogen storage disease type V
pyridoxal 5'-phosphate-dependent epilepsy
pyridoxamine 5-prime-phosphate oxidase deficiency see pyridoxal 5'-phosphate-dependent epilepsy
pyridoxine-5'-phosphate oxidase deficiency see pyridoxal 5'-phosphate-dependent epilepsy
Pyridoxine Dependency see pyridoxine-dependent epilepsy
pyridoxine-dependent epilepsy
pyroglutamic acidemia see glutathione synthetase deficiency
pyroglutamic aciduria see glutathione synthetase deficiency
pyrroline-5-carboxylate dehydrogenase deficiency see hyperprolinemia
pyrroline carboxylate dehydrogenase deficiency see hyperprolinemia
pyruvate carboxylase deficiency
pyruvate dehydrogenase deficiency
pyruvate kinase deficiency
Pyruvate Metabolism, Inborn Errors


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