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pachyonychia congenita
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
inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
PAH
see
pulmonary arterial hypertension
PAH deficiency
see
phenylketonuria
Pallister-Hall syndrome
PAM
see
potassium-aggravated myotonia
Pancreatic Diseases
pantothenate kinase-associated neurodegeneration
papillorenal syndrome
see
renal coloboma syndrome
Paralysis
Paralysis periodica paramyotonia
see
paramyotonia congenita
paramyotonia congenita
Parathyroid Disorders
Parkinson disease
Parkinson's Disease
see
Parkinson disease
paroxysmal dystonic choreoathetosis
see
familial paroxysmal nonkinesigenic dyskinesia
paroxysmal nocturnal hemoglobinuria
paroxysmal nonkinesigenic dyskinesia
see
familial paroxysmal nonkinesigenic dyskinesia
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
PC deficiency
see
pyruvate carboxylase deficiency
PCC deficiency
see
propionic acidemia
PD
see
Parkinson disease
PDC
see
familial paroxysmal nonkinesigenic dyskinesia
PDD
see
Camurati-Engelmann disease
PDE
see
pyridoxine-dependent epilepsy
Pelizaeus-Merzbacher disease
Pelvic Horn Syndrome
see
nail-patella syndrome
Pendred syndrome
Pepper syndrome
see
Cohen syndrome
Periodic Disease
see
familial Mediterranean fever
Periodic paralysis, potassium-sensitive cardiodysrhythmic type
see
Andersen-Tawil syndrome
Periodic peritonitis
see
familial Mediterranean fever
Periorificial lentiginosis syndrome
see
Peutz-Jeghers syndrome
Peripheral Nerve Disorders
Peripheral Neurofibromatosis
see
neurofibromatosis type 1
periventricular heterotopia
Peroneal Muscular Atrophy
see
Charcot-Marie-Tooth disease
peroxisomal alanine:glyoxylate aminotransferase deficiency
see
primary hyperoxaluria
Peters plus syndrome
Peutz-Jeghers syndrome
PFD
see
McCune-Albright syndrome
Pfeiffer syndrome
PFM
see
enlarged parietal foramina
PGA I
see
autoimmune polyglandular syndrome, type 1
Phenylalanine Hydroxylase Deficiency Disease
see
phenylketonuria
phenylketonuria
see
phenylketonuria
;
tetrahydrobiopterin deficiency
Pheochromocytoma
Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency
see
Lowe syndrome
Phosphoethanolaminuria
see
hypophosphatasia
PHS
see
Pallister-Hall syndrome
Pierre Robin syndrome with fetal chondrodysplasia
see
Weissenbacher-Zweymüller syndrome
Pigmentary cirrhosis
see
hemochromatosis
PJS
see
Peutz-Jeghers syndrome
PKAN
see
pantothenate kinase-associated neurodegeneration
PKD
see
polycystic kidney disease
PKU
see
phenylketonuria
platyspondylic lethal skeletal dysplasia, Torrance type
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
PME
see
Unverricht-Lundborg disease
PNKD
see
familial paroxysmal nonkinesigenic dyskinesia
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
POLIP
see
mitochondrial neurogastrointestinal encephalopathy disease
polycystic kidney disease
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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
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
popliteal pterygium syndrome
porphyria
porphyrin disorder
see
porphyria
Portuguese polyneuritic amyloidosis
see
transthyretin amyloidosis
Portuguese type familial amyloid neuropathy
see
transthyretin amyloidosis
potassium-aggravated myotonia
PPH
see
pulmonary arterial hypertension
PPS
see
popliteal pterygium syndrome
PPSH
see
5-alpha reductase deficiency
Prader-Labhart-Willi syndrome
see
Prader-Willi syndrome
Prader-Willi syndrome
Premature Ovarian Failure
see
blepharophimosis, ptosis, and epicanthus inversus syndrome
Presenile and senile dementia
see
Alzheimer disease
Presenile dementia with bone cysts
see
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Prieur-Griscelli syndrome
see
neonatal onset multisystem inflammatory disease
primary carnitine deficiency
primary erythromelalgia
see
erythromelalgia
Primary Hemochromatosis
see
hemochromatosis
Primary Hyperkalemic Periodic Paralysis
see
hyperkalemic periodic paralysis
primary hyperoxaluria
Primary hyperuricemia syndrome
see
Lesch-Nyhan syndrome
Primary Hypokalemic Periodic Paralysis
see
hypokalemic periodic paralysis
primary lateral sclerosis, juvenile
see
juvenile primary lateral sclerosis
Primary Parkinsonism
see
Parkinson disease
primary pulmonary hypertension
see
pulmonary arterial hypertension
Primary Senile Degenerative Dementia
see
Alzheimer disease
Primary torsion dystonia
see
early-onset primary dystonia
prion disease
Progeria
see
Hutchinson-Gilford progeria syndrome
Progeria-Like Syndrome
see
Cockayne syndrome
progeroid nanism
see
Cockayne syndrome
Progressive Chorea, Chronic Hereditary (Huntington)
see
Huntington disease
Progressive Muscular Atrophy
see
spinal muscular atrophy
Progressive muscular dystrophy, oculopharyngeal type
see
oculopharyngeal muscular dystrophy
progressive myoclonic epilepsy
see
Unverricht-Lundborg disease
progressive myoclonus epilepsy 1
see
Unverricht-Lundborg disease
Progressive myositis ossificans
see
fibrodysplasia ossificans progressiva
progressive osseous heteroplasia
progressive ossifying myositis
see
fibrodysplasia ossificans progressiva
progressive pseudorheumatoid dysplasia with hypoplastic toes
see
Czech dysplasia
progressive tapetochoroidal dystrophy
see
choroideremia
proline oxidase deficiency
see
hyperprolinemia
prolinemia
see
hyperprolinemia
prominent incisors-obesity-hypotonia syndrome
see
Cohen syndrome
PROP
see
propionic acidemia
propionic acidemia
prothrombin deficiency
prothrombin thrombophilia
PSACH
see
pseudoachondroplasia
pseudo-Ullrich-Turner syndrome
see
Noonan syndrome
pseudoachondroplasia
Pseudoachondroplastic dysplasia
see
pseudoachondroplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
see
pseudoachondroplasia
pseudoglioma congenita
see
Norrie disease
Pseudohermaphroditism
pseudohermaphroditism, male, with gynecomastia
see
17-beta hydroxysteroid dehydrogenase 3 deficiency
Pseudothalidomide syndrome
see
Roberts syndrome
Pseudovaginal perineoscrotal hypospadias
see
5-alpha reductase deficiency
pseudoxanthoma elasticum
psychosine lipidosis
see
Krabbe disease
pulmonary arterial hypertension
Pulmonary Hypertension
see
pulmonary arterial hypertension
Pure gonadal dysgenesis 46,XY
see
Swyer syndrome
Puretic syndrome
see
juvenile hyaline fibromatosis
Purpura, Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic
see
thrombotic thrombocytopenic purpura
PWS
see
Prader-Willi syndrome
PXE
see
pseudoxanthoma elasticum
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 Metabolism, Inborn Errors
see
pyruvate carboxylase deficiency
Published: January 23, 2009