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P11pDS ( Potocki-Shaffer syndrome [2] )
P450C11B1 deficiency ( Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency [1] )
PAC syndrome ( Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [16] )
PACD ( Corneal dystrophy, posterior amorphous [2] )
PAFC ( Preauricular fistulae, congenital [4] )
PAH ( Pulmonary hypertension, primary, 1 [2] )
PAH deficiency ( Phenylketonuria [14] )
PALS ( Papillon-Lefevre syndrome [26] )
PARK8 ( Parkinson disease 8 [2] )
PBGD deficiency ( Porphyria, acute intermittent [5] )
PBT ( Piebald trait [10] )
PC1 ( Pachyonychia congenita, type 1 [9] )
PC2 ( Pachyonychia congenita, type 2 [11] )
PCD ( Ciliary dyskinesia, primary, 1 [19] )
PCH1 ( Pontocerebellar hypoplasia type 1 [2] )
PCH2 ( Pontocerebellar hypoplasia type 2A [12] )
PCH2A ( Pontocerebellar hypoplasia type 2A [12] )
PCL ( Lymphedema, hereditary, IA [17] )
PCLD ( Polycystic liver disease [9] )
PCO ( Polycystic ovary syndrome [27] )
PCO1 ( Polycystic ovary syndrome [27] )
PCOS ( Polycystic ovary syndrome [27] )
PCOS1 ( Polycystic ovary syndrome [27] )
PCT ( Porphyria cutanea tarda [23] )
PCTT ( Pancreatitis, hereditary [1] )
PDD ( Camurati-Engelmann disease [14] )
PDDR IIA ( Vitamin D-dependent rickets, type 2A [2] )
PDH deficiency ( Pyruvate decarboxylase deficiency [2] )
PDMI ( Diabetes mellitus, permanent neonatal [1] )
PDP ( Pachydermoperiostosis [10] )
PDS ( Pendred syndrome [8] )
PDV ( Patent ductus venosus [17] )
PEHO syndrome [1]
PEOA4 ( Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 [1] )
PFD ( McCune-Albright syndrome [12] )
PFIC1 ( Cholestasis, progressive familial intrahepatic 1 [4] )
PFIC3 ( Cholestasis, progressive familial intrahepatic 3 [3] )
PFM ( Parietal foramina [10] )
PFM2 ( Parietal foramina 2 [3] )
PGA I ( Autoimmune polyendocrinopathy syndrome, type I [4] )
PHA ( Pelger-Huet anomaly [3] )
PHACE association [10]
PHACE association - Imaging [20]
PHACE syndrome ( PHACE association [10] )
PHACES association ( PHACE association [10] )
PHHI ( Hyperinsulinemic hypoglycemia, familial, 1 [4] )
PHP IB ( Pseudohypoparathyroidism, type Ib [2] )
PHP1B ( Pseudohypoparathyroidism, type Ib [2] )
PHP1a ( Pseudohypoparathyroidism, type Ia [24] )
PHPTC ( Tumoral calcinosis, hyperphosphatemic, familial [4] )
PHPX ( Panhypopituitarism, X-linked [1] )
PHS ( Pallister-Hall syndrome [2] )
PHT ( Pulmonary hypertension, primary, 1 [2] )
PIT ( Van der Woude syndrome [14] )
PJI ( Juvenile intestinal polyposis [9] )
PJS ( Peutz-Jeghers syndrome [16] )
PKAN neuroaxonal dystrophy, juvenile onset ( Hallervorden-Spatz disease [19] )
PKD ( Polycystic kidney disease [13] )
PKD1 ( Polycystic kidney disease 1 [3] )
PKD2 ( Polycystic kidney disease 2 [2] )
PKHD1 ( Polycystic kidney disease, autosomal recessive [57] )
PKND ( Pyknodysostosis [18] )
PKS ( Pallister-Killian syndrome [1] )
PKU ( Phenylketonuria [14] )
PKWS ( Parkes Weber syndrome [4] )
PLCA ( Amyloidosis, primary cutaneous [10] )
PLOSL ( Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [3] )
PLS ( Papillon-Lefevre syndrome [26] )
PLSDT ( Platyspondylic skeletal dysplasia, Torrance type [5] )
PMD ( Microphthalmia, syndromic 9 [1] )
PMDS ( Persistent mullerian duct syndrome [17] )
PME ( Myoclonic epilepsy of Unverricht and Lundborg [3] )
PMGX ( Polymicrogyria, bilateral perisylvian [7] )
PMLD1 ( Pelizaeus-Merzbacher disease [21] )
PMLD1 ( Leukodystrophy, hypomyelinating, 2 [1] )
PMM2 deficiency ( Congenital disorder of glycosylation, type Ia [5] )
PMSE ( Polyhydramnios, megalencephaly, and symptomatic epilepsy [4] )
PMSE syndrome ( Polyhydramnios, megalencephaly, and symptomatic epilepsy [4] )
PNDC ( Alpers syndrome [4] )
PNDM ( Diabetes mellitus, permanent neonatal [1] )
POLIP syndrome ( Mitochondrial DNA depletion syndrome 1 (MNGIE type) [2] )
PPA ( Frontotemporal lobar degeneration with ubiquitin-positive inclusions [23] )
PPAB ( Peripapillary atrophy, beta type [1] )
PPAC ( Arthropathy, progressive pseudorheumatoid, of childhood [4] )
PPB ( Pleuropulmonary blastoma [2] )
PPCD ( Corneal dystrophy, hereditary posterior polymorphous [11] )
PPCD1 ( Corneal dystrophy, hereditary posterior polymorphous [11] )
PPCRA ( Pigmented paravenous chorioretinal atrophy [5] )
PPD ( Arthropathy, progressive pseudorheumatoid, of childhood [4] )
PPH1 ( Pulmonary hypertension, primary, 1 [2] )
PPKP1 ( Keratosis palmoplantaris papulosa [11] )
PPKP3 ( Acrokeratoelastoidosis [11] )
PPKS1 ( Keratosis palmoplantaris striata I [6] )
PPKS2 ( Keratosis palmoplantaris striata II [6] )
PPKS3 ( Keratosis palmoplantaris striata III [2] )
PPOX deficiency ( Porphyria variegata [3] )
PPPD1 ( Porokeratosis, palmar, plantar, and disseminated 1 [12] )
PPS ( Popliteal pterygium syndrome [16] )
PRD ( Retinal dysplasia [3] )
PRDS ( Wolf-Hirschhorn syndrome [21] )
PROMM ( Dystrophia myotonica 2 [6] )
PRV ( Polycythemia vera [19] )
PSACH ( Pseudoachondroplasia [5] )
PSAT deficiency ( Phosphoserine aminotransferase deficiency [1] )
PSATD ( Phosphoserine aminotransferase deficiency [1] )
PSEK ( Erythrokeratodermia variabilis [45] )
PSNP1 ( Supranuclear palsy, progressive, 1 [13] )
PSP ( Pneumothorax, primary spontaneous [2] )
PSP ( Supranuclear palsy, progressive, 1 [13] )
PSS ( Potocki-Shaffer syndrome [2] )
PSS ( Peeling skin syndrome [10] )
PSVS ( Patent ductus venosus [17] )
PTC syndrome ( Multiple endocrine neoplasia, type IIA [43] )
PTHS ( Pitt-Hopkins syndrome [5] )
PTLS ( Potocki-Lupski syndrome [1] )
PTOS1 ( Ptosis, hereditary congenital 1 [2] )
PTR ( Pilomatrixoma [5] )
PTS deficiency ( Hyperphenylalaninemia, BH4-deficient, A [1] )
PV ( Polycythemia vera [19] )
PVNH1 ( Heterotopia, periventricular, X-linked dominant [6] )
PVNH4 ( Heterotopia, periventricular, Ehlers-Danlos variant [5] )
PWS ( Prader-Willi syndrome [19] )
PXE-like disorder with multiple coagulation factor deficiency ( Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency [4] )
PYCD ( Pyknodysostosis [18] )
PYGM deficiency ( Glycogen storage disease V [13] )
Pachydermodactyly [11]
Pachydermoperiostosis [10]
Pachygyria, mental retardation, epilepsy, and characteristic facies ( Mental retardation with epilepsy and characteristic facies [2] )
Pachyonychia congenita [12]
Pachyonychia congenita tarda, type 1 ( Pachyonychia congenita, type 1 [9] )
Pachyonychia congenita, Jackson-Lawler type ( Pachyonychia congenita, type 2 [11] )
Pachyonychia congenita, Jadassohn-Lewandowsky type ( Pachyonychia congenita, type 1 [9] )
Pachyonychia congenita, type 1 [9]
Pachyonychia congenita, type 2 [11]
Pagetoid amyotrophic lateral sclerosis ( Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia [2] )
Pagetoid neuroskeletal syndrome ( Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia [2] )
Pagon syndrome ( Walker-Warburg syndrome [14] )
Pallister ulnar-mammary syndrome ( Ulnar-mammary syndrome [14] )
Pallister-Hall syndrome [2]
Pallister-Killian syndrome [1]
Palmoplantar keratoderma ( Keratosis palmoplantaris [5] )
Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair ( Naxos disease [11] )
Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair ( Carvajal syndrome [3] )
Palmoplantar keratoderma, Vorner type ( Palmoplantar keratoderma, epidermolytic [4] )
Palmoplantar keratoderma, epidermolytic [4]
Palmoplantar keratoderma, epidermolytic, with knuckle pads ( Palmoplantar keratoderma, epidermolytic [4] )
Palmoplantar keratoderma, nonepidermolytic [2]
Palmoplantar keratoderma, nonepidermolytic ( Palmoplantar keratoderma, nonepidermolytic [2] )
Palmoplantar keratosis ( Keratosis palmoplantaris [5] )
Pancreas bifidum [3]
Pancreas divisum [4]
Pancreas divisum - Imaging [37]
Pancreas, annular ( Annular pancreas [11] )
Pancreas, ectopic [10]
Pancreatic agenesis, congenital ( Pancreatic hypoplasia [4] )
Pancreatic and cerebellar agenesis ( Diabetes mellitus, permanent neonatal, with cerebellar agenesis [3] )
Pancreatic cyst, congenital [8]
Pancreatic hypoplasia [4]
Pancreatic hypoplasia, congenital ( Pancreatic hypoplasia [4] )
Pancreatic insufficiency and bone marrow dysfunction ( Shwachman-Diamond syndrome [4] )
Pancreatitis, calcific ( Pancreatitis, hereditary [1] )
Pancreatitis, chronic ( Pancreatitis, hereditary [1] )
Pancreatitis, hereditary [1]
Panhypopituitarism ( Pituitary hormone deficiency, combined, 2 [20] )
Panhypopituitarism, X-linked [1]
Pantothenate kinase-associated neurodegeneration ( Hallervorden-Spatz disease [19] )
Papillon-League-Psaume syndrome ( Orofaciodigital syndrome I [10] )
Papillon-Lefevre syndrome [26]
Papillon-Lefevre syndrome - Dental anomalies [20]
Papular atrichia ( Atrichia with papular lesions [11] )
Papulosis, malignant atrophic ( Malignant atrophic papulosis [17] )
Paraganglioma and gastric stromal sarcoma ( Carney-Stratakis syndrome [2] )
Paraganglioma and gastrointestinal stromal tumor ( Carney-Stratakis syndrome [2] )
Parahemophilia ( Factor V deficiency [1] )
Parapagus ( Conjoined twins, parapagus [17] )
Parathyroid adenomatosis, familial cystic ( Hyperparathyroidism 2 [9] )
Parietal foramina [10]
Parietal foramina 2 [3]
Parietal foramina, symmetric ( Parietal foramina [10] )
Parkes Weber syndrome [4]
Parkinson disease 8 [2]
Paroxysmal ataxia with neuromyotonia, hereditary ( Episodic ataxia, type 1 [1] )
Parry-Romberg syndrome [16]
Partial 11q monosomy syndrome ( Jacobsen syndrome [1] )
Partial trisomy 13q22 ( Trisomy 13q22, partial [2] )
Partial trisomy 9q ( Trisomy 9q, partial [2] )
Parvovirus infection, congenital [11]
Patau syndrome ( Trisomy 13 [17] )
Patellar dislocation, congenital [14]
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits ( Char syndrome [1] )
Patent ductus venosus [17]
Patent omphalomesenteric duct ( Omphalomesenteric duct, patent [2] )
Patent processus vaginalis [7]
Patterned dystrophy of retinal pigment epithelium [8]
Pearson marrow-pancreas syndrome [7]
Pearson syndrome ( Pearson marrow-pancreas syndrome [7] )
Pectoralis muscle absence ( Poland syndrome [14] )
Pectus carinatum [9]
Pectus excavatum [7]
Pectus excavatum - Imaging [26]
Peeling skin syndrome [10]
Peeling skin syndrome, acral type [2]
Pelger-Huet anomaly [3]
Pelizaeus-Merzbacher disease [21]
Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type ( Leukodystrophy, adult-onset, autosomal dominant [8] )
Pelizaeus-Merzbacher-like disease, 1 ( Leukodystrophy, hypomyelinating, 2 [1] )
Pelvic digit [5]
Pemphigus, benign familial ( Benign chronic pemphigus [27] )
Pena-Shokeir syndrome, type I [3]
Pena-Shokeir syndrome, type II ( Cerebrooculofacioskeletal syndrome [2] )
Pendred syndrome [8]
Penile agenesis ( Aphallia [1] )
Penile duplication ( Diphallus [2] )
Penile webbing ( Webbed penis [6] )
Penis duplex ( Diphallus [2] )
Penoscrotal transposition [12]
Pentalogy of Cantrell [16]
Pentalogy of Cantrell - Prenatal diagnosis [11]
Pentasomy X [1]
Pepper syndrome ( Cohen syndrome [16] )
Perheentupa syndrome ( Mulibrey nanism [6] )
Pericardial constriction and growth failure ( Mulibrey nanism [6] )
Pericarditis-arthropathy-camptodactyly syndrome ( Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [16] )
Pericardium, congenital absence [15]
Perilymphatic gusher during stapes surgery ( Deafness, X-linked 2 [6] )
Perilymphatic gusher-deafness syndrome ( Deafness, X-linked 2 [6] )
Perinuclear cataract ( Cataract, lamellar [6] )
Periodic paralysis, potassium-sensitive cardiodysrhythmic type ( Andersen syndrome [2] )
Peripapillary atrophy, beta type [1]
Peripapillary chorioretinal atrophy, beta type ( Peripapillary atrophy, beta type [1] )
Peripapillary chorioretinal degeneration, Icelandic type ( Sveinsson chorioretinal atrophy [1] )
Perisylvian syndrome, congenital bilateral ( Polymicrogyria, bilateral perisylvian [7] )
Periventricular nodular heterotopia [13]
Periventricular nodular heterotopia 1 ( Heterotopia, periventricular, X-linked dominant [6] )
Periventricular nodular heterotopia 4 ( Heterotopia, periventricular, Ehlers-Danlos variant [5] )
Perlman syndrome ( Renal hamartomas, nephroblastomatosis, and fetal gigantism [1] )
Peromelia with micrognathism ( Aglossia-adactylia [6] )
Peroneal muscular atrophy ( Charcot-Marie-Tooth disease, demyelinating, type 1B [1] )
Peroxisomal alanine:glyoxylate aminotransferase deficiency ( Hyperoxaluria, primary, type I [30] )
Persistent cloaca ( Cloacal malformation [24] )
Persistent hyperinsulinemic hypoglycemia of infancy ( Hyperinsulinemic hypoglycemia, familial, 1 [4] )
Persistent left superior vena cava ( Superior vena cava, persistent left [35] )
Persistent mullerian duct syndrome [17]
Persistent mullerian duct syndrome - Imaging [12]
Persistent mullerian duct syndrome, types I and II ( Persistent mullerian duct syndrome [17] )
Persistent oviduct syndrome ( Persistent mullerian duct syndrome [17] )
Persistent proatlantal artery ( Proatlantal artery, persistent [20] )
Persistent stapedial artery ( Stapedial artery, persistent [22] )
Perthes disease ( Legg-Calve-Perthes disease [47] )
Pes valgus, congenital convex ( Vertical talus, congenital [3] )
Peters anomaly [4]
Peters anomaly with short-limb dwarfism ( Peters-plus syndrome [4] )
Peters congenital glaucoma ( Peters anomaly [4] )
Peters-plus syndrome [4]
Petit mal, impulsive ( Epilepsy, myoclonic juvenile [2] )
Peutz-Jeghers syndrome [16]
Peutz-Jeghers syndrome - Digestive system [23]
Peutz-Jeghers syndrome - Respiratory system [7]
Peutz-Jeghers syndrome - Urogenital system [8]
Pfeiffer syndrome [17]
Phacomatosis pigmentokeratotica [13]
Phenylalanine hydroxylase deficiency ( Phenylketonuria [14] )
Phenylalaninemia ( Phenylketonuria [14] )
Phenylketonuria [14]
Pheochromocytoma and amyloid-producing medullary thyroid carcinoma ( Multiple endocrine neoplasia, type IIA [43] )
Phocomelia, thrombocytopenia, encephalocele, urogenital malformations ( DK phocomelia syndrome [1] )
Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency ( Lowe oculocerebrorenal syndrome [2] )
Phosphoethanolaminuria ( Hypophosphatasia, infantile [3] )
Phosphomannomutase 2 deficiency ( Congenital disorder of glycosylation, type Ia [5] )
Phosphorylase kinase deficiency of heart ( Glycogen storage disease of heart, lethal congenital [1] )
Phosphoserine aminotransferase deficiency [1]
Photosensitivity with defective DNA synthesis ( Xeroderma pigmentosum, variant type [1] )
Phytosterolemia ( Sitosterolemia [1] )
Pick complex ( Frontotemporal dementia [31] )
Piebald trait [10]
Piebaldism ( Piebald trait [10] )
Pierre Robin sequence ( Pierre Robin syndrome [18] )
Pierre Robin syndrome [18]
Pierre Robin syndrome with fetal chondrodysplasia ( Weissenbacher-Zweymuller syndrome [2] )
Pierson syndrome [7]
Pigeon breast ( Pectus carinatum [9] )
Pigmentary retinopathy ( Retinitis pigmentosa [17] )
Pigmented nodular adrenocortical disease, primary ( Carney complex, type 1 [16] )
Pigmented paravenous chorioretinal atrophy [5]
Pili trianguli et canaliculi ( Uncombable hair syndrome [5] )
Pilomatricoma ( Pilomatrixoma [5] )
Pilomatrixoma [5]
Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities ( Rabson-Mendenhall syndrome [3] )
Pingelapese blindness ( Achromatopsia 3 [2] )
Pink-eyed dilution ( Oculocutaneous albinism, type II [2] )
Pitt syndrome ( Wolf-Hirschhorn syndrome [21] )
Pitt-Hopkins syndrome [5]
Pitt-Rogers-Danks syndrome ( Wolf-Hirschhorn syndrome [21] )
Pituitary adenoma, growth hormone-secreting [4]
Pituitary adenoma, prolactin-secreting [5]
Pituitary duplication [22]
Pituitary dwarfism II ( Laron syndrome [17] )
Pituitary dwarfism III ( Pituitary hormone deficiency, combined, 2 [20] )
Pituitary hormone deficiency, combined, 1 [2]
Pituitary hormone deficiency, combined, 2 [20]
Pituitary hormone deficiency, combined, 3 [7]
Pituitary hormone deficiency, combined, 4 [1]
Pituitary hormone deficiency, combined, with or without cerebellar defects ( Pituitary hormone deficiency, combined, 4 [1] )
Pituitary hormone deficiency, combined, with rigid cervical spine ( Pituitary hormone deficiency, combined, 3 [7] )
Pituitary stalk agenesis [3]
Pituitary stalk interruption ( Neurohypophysis, ectopic [7] )
Pituitary stalk transection syndrome ( Neurohypophysis, ectopic [7] )
Pityriasis rubra pilaris [30]
Pityriasis rubra pilaris - Histology [4]
Placental steroid sulfatase deficiency ( Ichthyosis, X-linked [10] )
Plagiocephaly [35]
Plantar fibromas ( Dupuytren contracture [3] )
Plantar fibromatosis, familial ( Dupuytren contracture [3] )
Platelet fibrinogen receptor, deficiency of ( Glanzmann thrombasthenia [9] )
Platelet glycoprotein IIb-IIIa deficiency ( Glanzmann thrombasthenia [9] )
Platelet glycoprotein Ib deficiency ( Bernard-Soulier syndrome [3] )
Platyspondylic skeletal dysplasia, Torrance type [5]
Pleuropulmonary blastoma [2]
Pneumothorax, primary spontaneous [2]
Poikiloderma congenitale ( Rothmund-Thomson syndrome [22] )
Poikiloderma, congenital, with bullae, Weary type ( Kindler syndrome [17] )
Poikiloderma, hereditary acrokeratotic ( Kindler syndrome [17] )
Poland anomaly ( Poland syndrome [14] )
Poland syndactyly ( Poland syndrome [14] )
Poland syndrome [14]
Polyasplenia ( Asplenia with cardiovascular anomalies [8] )
Polycystic kidney and hepatic disease 1 ( Polycystic kidney disease, autosomal recessive [57] )
Polycystic kidney disease [13]
Polycystic kidney disease - Histology [8]
Polycystic kidney disease - Imaging [8]
Polycystic kidney disease 1 [3]
Polycystic kidney disease 2 [2]
Polycystic kidney disease, adult ( Polycystic kidney disease [13] )
Polycystic kidney disease, adult, type II ( Polycystic kidney disease 2 [2] )
Polycystic kidney disease, autosomal recessive [57]
Polycystic kidney disease, infantile, type I ( Polycystic kidney disease, autosomal recessive [57] )
Polycystic kidneys ( Polycystic kidney disease [13] )
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [3]
Polycystic liver disease [9]
Polycystic ovary syndrome [27]
Polycystic ovary syndrome 1 ( Polycystic ovary syndrome [27] )
Polycythemia rubra vera ( Polycythemia vera [19] )
Polycythemia vera [19]
Polydactylism ( Polydactyly [10] )
Polydactyly [10]
Polydactyly with neonatal chondrodystrophy, type I ( Short rib-polydactyly syndrome, type I [2] )
Polydactyly with neonatal chondrodystrophy, type II ( Short rib-polydactyly syndrome, type II [9] )
Polydactyly with neonatal chondrodystrophy, type III ( Short rib-polydactyly syndrome, type III [7] )
Polydactyly, central [1]
Polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation ( Orofaciodigital syndrome VI [2] )
Polydactyly, postaxial [5]
Polydactyly, preaxial [7]
Polydactyly, preaxial IV [1]
Polydactyly, sex reversal, renal hypoplasia, and unilobular lung ( Smith-Lemli-Opitz syndrome [6] )
Polyendocrinopathy, immune dysfunction, and diarrhea, X-linked ( Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked [2] )
Polyglandular autoimmune syndrome, type I ( Autoimmune polyendocrinopathy syndrome, type I [4] )
Polyglandular deficiency syndrome, Persian-Jewish type ( Autoimmune polyendocrinopathy syndrome, type I [4] )
Polyhydramnios, megalencephaly, and symptomatic epilepsy [4]
Polymastia ( Breast tissue, accessory [9] )
Polymicrogyria [24]
Polymicrogyria, bilateral frontoparietal [2]
Polymicrogyria, bilateral perisylvian [7]
Polymicrogyria, unilateral [1]
Polynesian bronchiectasis ( Ciliary dyskinesia, primary, 1 [19] )
Polyneuropathy, familial recurrent ( Neuropathy, hereditary, with liability to pressure palsies [5] )
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction ( Mitochondrial DNA depletion syndrome 1 (MNGIE type) [2] )
Polyorchidism [14]
Polyostotic fibrous dysplasia ( McCune-Albright syndrome [12] )
Polyostotic osteolytic dysplasia, hereditary expansile ( Familial expansile osteolysis [1] )
Polyposis syndrome, hereditary mixed, 2 [1]
Polyposis, familial, of entire gastrointestinal tract ( Juvenile intestinal polyposis [9] )
Polyposis, hamartomatous intestinal ( Peutz-Jeghers syndrome [16] )
Polyposis, juvenile intestinal ( Juvenile intestinal polyposis [9] )
Polyps-and-spots syndrome ( Peutz-Jeghers syndrome [16] )
Polyserositis, familial paroxysmal ( Familial Mediterranean fever [14] )
Polyserositis, recurrent ( Familial Mediterranean fever [14] )
Polysplenia syndrome [36]
Polysyndactyly with peculiar skull shape ( Greig cephalopolysyndactyly syndrome [2] )
Polysyndactyly, uncomplicated ( Polydactyly, preaxial IV [1] )
Polythelia, familial ( Nipples, supernumerary [11] )
Pompe disease ( Glycogen storage disease II [12] )
Pontocerebellar hypoplasia [2]
Pontocerebellar hypoplasia type 1 [2]
Pontocerebellar hypoplasia type 2A [12]
Pontocerebellar hypoplasia with anterior horn cell disease ( Pontocerebellar hypoplasia type 1 [2] )
Pontocerebellar hypoplasia with infantile spinal muscular atrophy ( Pontocerebellar hypoplasia type 1 [2] )
Pontocerebellar hypoplasia with progressive cerebral atrophy ( Pontocerebellar hypoplasia type 2A [12] )
Popliteal pterygium syndrome [16]
Popliteal pterygium syndrome, lethal type [3]
Porcelain nails ( Leukonychia totalis [6] )
Porencephaly [5]
Porencephaly, familial [1]
Porencephaly, type 1 ( Porencephaly, familial [1] )
Porencephaly, type 1, autosomal dominant ( Porencephaly, familial [1] )
Porokeratosis of Mibelli [19]
Porokeratosis palmaris et plantaris disseminata ( Porokeratosis, palmar, plantar, and disseminated 1 [12] )
Porokeratosis plantaris, palmaris, et disseminata ( Porokeratosis, palmar, plantar, and disseminated 1 [12] )
Porokeratosis, disseminated superficial actinic, 1 [13]
Porokeratosis, disseminated superficial actinic, 4 [2]
Porokeratosis, palmar, plantar, and disseminated 1 [12]
Porphobilinogen deaminase deficiency ( Porphyria, acute intermittent [5] )
Porphyria cutanea tarda [23]
Porphyria cutanea tarda - Histology [4]
Porphyria variegata [3]
Porphyria, South African type ( Porphyria variegata [3] )
Porphyria, Swedish type ( Porphyria, acute intermittent [5] )
Porphyria, acute intermittent [5]
Porphyria, congenital erythropoietic [24]
Porphyria, erythropoietic ( Porphyria, congenital erythropoietic [24] )
Porphyria, hepatocutaneous type ( Porphyria cutanea tarda [23] )
Port-wine stain ( Nevus flammeus [14] )
Portal vein duplication [3]
Portal vein, congenital absence [15]
Portosystemic venous shunt, congenital ( Patent ductus venosus [17] )
Posterior amorphous corneal dystrophy ( Corneal dystrophy, posterior amorphous [2] )
Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities ( PHACE association [10] )
Posterior pituitary ectopia ( Neurohypophysis, ectopic [7] )
Posterior polymorphous corneal dystrophy ( Corneal dystrophy, hereditary posterior polymorphous [11] )
Potassium and magnesium depletion ( Gitelman syndrome [4] )
Potocki-Lupski syndrome [1]
Potocki-Shaffer syndrome [2]
Potter facies [2]
Potter type III polycystic kidney disease ( Polycystic kidney disease [13] )
Prader-Labhart-Willi syndrome ( Prader-Willi syndrome [19] )
Prader-Willi syndrome [19]
Preauricular fistulae, congenital [4]
Preauricular sinus ( Preauricular fistulae, congenital [4] )
Preaxial brachydactyly syndrome, Temtamy type ( Temtamy preaxial brachydactyly syndrome [1] )
Prematurity retinopathy ( Retinopathy of prematurity [39] )
Prepubic dermoid sinus ( Prepubic sinus, congenital [2] )
Prepubic sinus, congenital [2]
Presenile dementia with bone cysts ( Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [3] )
Primary ciliary dyskinesia, Kartagener type ( Kartagener syndrome [19] )
Primary congenital lymphedema ( Lymphedema, hereditary, IA [17] )
Primary failure of eruption [5]
Primary failure of tooth eruption ( Primary failure of eruption [5] )
Primary localized cutaneous amyloidosis ( Amyloidosis, primary cutaneous [10] )
Primitive renal tubule syndrome ( Renal tubular dysgenesis [1] )
Prion dementia ( Gerstmann-Sträussler disease [7] )
Proatlantal artery, persistent [20]
Progeria ( Hutchinson-Gilford progeria syndrome [27] )
Progeria, adult ( Werner syndrome [10] )
Progeria-like syndrome ( Cockayne syndrome [11] )
Progeroid short stature with pigmented nevi ( Mulvihill-Smith syndrome [1] )
Progressive diaphyseal dysplasia ( Camurati-Engelmann disease [14] )
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy ( PEHO syndrome [1] )
Progressive external ophthalmoplegia [2]
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 [1]
Progressive external ophthalmoplegia, autosomal dominant, 4 ( Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 [1] )
Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase ( Cholestasis, progressive familial intrahepatic 3 [3] )
Progressive myoclonic epilepsy ( Myoclonic epilepsy of Unverricht and Lundborg [3] )
Progressive pseudorheumatoid arthropathy of childhood ( Arthropathy, progressive pseudorheumatoid, of childhood [4] )
Progressive pseudorheumatoid dysplasia ( Arthropathy, progressive pseudorheumatoid, of childhood [4] )
Prolactinoma, familial ( Pituitary adenoma, prolactin-secreting [5] )
Prolidase deficiency [3]
Prolonged QT interval in EKG and sudden death ( Jervell and Lange-Nielsen syndrome [3] )
Proopiomelanocortin deficiency [1]
Prosopagnosia, congenital ( Prosopagnosia, hereditary [7] )
Prosopagnosia, developmental ( Prosopagnosia, hereditary [7] )
Prosopagnosia, hereditary [7]
Prostatic utricle cyst ( Mullerian duct cyst [5] )
Proteus syndrome [24]
Proteus syndrome - Digestive system [1]
Proteus syndrome - Imaging [30]
Proteus syndrome - Nervous system [24]
Proteus syndrome - Respiratory system [6]
Proteus syndrome - Urogenital system [7]
Proteus-like syndrome [2]
Protoporphyria, erythropoietic [8]
Protoporphyrinogen oxidase deficiency ( Porphyria variegata [3] )
Proximal 10q trisomy [1]
Proximal 11p deletion syndrome ( Potocki-Shaffer syndrome [2] )
Proximal femoral focal deficiency ( Femur-fibula-ulna syndrome [9] )
Prune belly syndrome [21]
Prune belly syndrome - Prenatal diagnosis [4]
Pseudarthrosis of the tibia, congenital [13]
Pseudo-Angelman syndrome ( Microdeletion 2q23.1 syndrome [1] )
Pseudo-Hurler polydystrophy ( Mucolipidosis IIIA [2] )
Pseudo-TORCH syndrome ( Aicardi-Goutieres syndrome 1 [3] )
Pseudo-phlorizin diabetes ( Fanconi-Bickel syndrome [3] )
Pseudoachondroplasia [5]
Pseudoachondroplastic dysplasia ( Pseudoachondroplasia [5] )
Pseudoglioma ( Norrie disease [7] )
Pseudoglycogenosis II ( Danon disease [18] )
Pseudohermaphroditism, female, due to placental aromatase deficiency ( Aromatase deficiency [12] )
Pseudohermaphroditism, male internal ( Persistent mullerian duct syndrome [17] )
Pseudohypoparathyroidism, type Ia [24]
Pseudohypoparathyroidism, type Ib [2]
Pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and cardiac abnormalities ( Mungan syndrome [1] )
Pseudorheumatoid dysplasia, progressive, with hypoplastic toes ( Czech dysplasia, metatarsal type [3] )
Pseudotoxoplasmosis syndrome ( Aicardi-Goutieres syndrome 1 [3] )
Pseudotrisomy 13 syndrome [3]
Pseudovitamin D-deficiency, type IIA ( Vitamin D-dependent rickets, type 2A [2] )
Pseudoxanthoma elasticum [29]
Pseudoxanthoma elasticum - Eyes [16]
Pseudoxanthoma elasticum - Histology [15]
Pseudoxanthoma elasticum - Imaging [7]
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency [4]
Pterygium colli syndrome ( Pterygium syndrome [5] )
Pterygium syndrome [5]
Pterygium syndrome, multiple, lethal type ( Multiple pterygium syndrome, lethal type [3] )
Pterygium universale ( Pterygium syndrome [5] )
Pterygium, popliteal, lethal type ( Popliteal pterygium syndrome, lethal type [3] )
Ptosis, hereditary congenital [12]
Ptosis, hereditary congenital 1 [2]
Pulmonary agenesis [32]
Pulmonary agenesis, microphthalmia, and diaphragmatic defect ( Microphthalmia, syndromic 9 [1] )
Pulmonary alveolar proteinosis due to ABCA3 deficiency ( Surfactant metabolism dysfunction, pulmonary, 3 [10] )
Pulmonary alveolar proteinosis due to surfactant protein C deficiency ( Surfactant metabolism dysfunction, pulmonary, 2 [3] )
Pulmonary aplasia [2]
Pulmonary arterial hypertension ( Pulmonary hypertension, primary, 1 [2] )
Pulmonary arterial interruption [10]
Pulmonary arteriovenous malformation [44]
Pulmonary arteriovenous malformation - Prenatal diagnosis [2]
Pulmonary arteriovenous malformation, bilateral [6]
Pulmonary arteriovenous malformation, unilateral [8]
Pulmonary artery agenesis [4]
Pulmonary atresia with intact ventricular septum [13]
Pulmonary atresia with intact ventricular septum - Prenatal diagnosis [4]
Pulmonary cystic lymphangiectasis ( Lymphangiectasia, pulmonary, congenital [7] )
Pulmonary fibrosis, idiopathic [5]
Pulmonary hypertension, primary, 1 [2]
Pulmonary hypoplasia [15]
Pulmonary sequestration [32]
Pulmonary sequestration, extralobar [14]
Pulmonary sequestration, intralobar [6]
Pulmonary valve agenesis, Fallot tetralogy, absence of ductus arteriosus [8]
Pulmonary vein atresia, congenital unilateral [9]
Pulmonary vein, anomalous unilateral single [8]
Pulmonic stenosis, brachytelephalangism, and calcification of cartilages ( Keutel syndrome [11] )
Pulp stones ( Dentin dysplasia, type II [1] )
Pulpal dysplasia ( Dentin dysplasia, type II [1] )
Pulverulent zonular cataract ( Cataract, zonular pulverulent 1 [2] )
Puretic syndrome ( Fibromatosis, juvenile hyaline [14] )
Purtilo syndrome ( Lymphoproliferative syndrome, X-linked [5] )
Pycnodysostosis ( Pyknodysostosis [18] )
Pygopagus ( Conjoined twins, pygopagus [7] )
Pyknodysostosis [18]
Pyle disease [15]
Pyloric atresia [3]
Pyloric duplication [2]
Pyloric stenosis, infantile hypertrophic [38]
Pyroglutamicaciduria ( Glutathione synthetase deficiency [1] )
Pyropoikilocytosis, hereditary [1]
Pyruvate decarboxylase deficiency [2]
Pyruvate dehydrogenase E1-alpha deficiency ( Pyruvate decarboxylase deficiency [2] )
Pyruvate dehydrogenase deficiency ( Pyruvate decarboxylase deficiency [2] )
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Edited by Aldo Campana, August 21, 2012
