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Y-Z
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
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
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 Müllerian 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-Zweymüller 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
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 Müllerian 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
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
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
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 with hypoplastic toes
see
Czech dysplasia
progressive scleroderma
see
systemic scleroderma
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
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
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
Published: February 11, 2013