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Pachyonychia CongenitaA syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and is caused by gene mutations that result in changes in keratin.Paganini-Miozzo SyndromeA syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that is caused by hemizygous mutation in the H Paget Disease of BoneA bone formation disease that is caused by hyperactive osteoclast which causes abnormal osteoblast bone formation in skull, in pelvis, in vertebral column, in set of limbs.Paget Disease of Bone 2A Paget's disease of bone that is caused by heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21.Paget Disease of Bone 3A Paget's disease of bone that is caused by heterozygous mutation in the SQSTM1 gene on chromosome 5q35.Paget Disease of Bone 4A Paget's disease of bone that is caused by linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972.Paget Disease of Bone 5A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that is caused by oste Paget Disease of Bone 6A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that is caused by heterozygous mutation in the ZNF687 gene o Paget Disease of Bone 7A Paget disease of bone that is characterized by persistent and long-lasting active bone resorption, resulting in severe skeletal deformities and high levels of serum alkaline phosphatase and bone turnover markers and th Paget's Disease of BoneAbnormal bone remodeling causing weak, enlarged bones.Pain AgnosiaAn agnosia that is a loss of the ability to perceive and process pain.Pain DisorderA somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.Palindromic RheumatismAn arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that causes no joint damage or symptoms.Palladium Allergic Contact DermatitisAn allergic contact dermatitis that triggered by palladium.Pallister-Hall SyndromeA syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and is caused by autosomal dominant heterozygous mutation in the GLI3 gene on chromosome Palmoplantar Keratoderma and Congenital Alopecia 1An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that is caused by heterozygous mutation in GJA1 on 6q22.31.Palmoplantar Keratoderma and Congenital Alopecia 2An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.Palmoplantar Keratoderma and Woolly HairA nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electroca Palmoplantar Keratoderma-Deafness SyndromeA syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that is caused by heterozygous mutation in the GJB2 gene on chromosome 13q12.11.Palmoplantar Keratoderma-Esophageal Carcinoma SyndromeA syndrome characterized by palmoplantar keratoderma and esophageal cancer that is caused by heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1.Palmoplantar KeratosisA keratosis characterized by abnormal thickening of the palms and the soles.Pan-Chung-Bellen SyndromeA syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogeni Pancreas DiseaseAn endocrine system disease that is in the pancreas.Pancreas SarcomaA pancreatic cancer that is in the pancreas and that arises from transformed cells of mesenchymal origin.Pancreatic Acinar Cell AdenocarcinomaA pancreatic adenocarcinoma that is caused by cells with morphological resemblance to acinar cells and is associated with increased serum lipase.Pancreatic AdenocarcinomaA pancreatic carcinoma that arises from epithelial cells of glandular origin.Pancreatic Adenosquamous CarcinomaA pancreatic ductal carcinoma that arises from squamous cells and gland-like cells.Pancreatic AgenesisA pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.Pancreatic Agenesis 1A pancreatic agenesis characterized by intrauterine growth retardation that is caused by homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12.Pancreatic Agenesis 2A pancreatic agenesis that is caused by homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12.Pancreatic CancerCancer that starts in the pancreas. Tracking your symptoms and connecting with others who understand can help you manage day to day.Pancreatic CarcinomaA pancreas cancer that arises from epithelial cells in the exocrine pancreas.Pancreatic Ductal AdenocarcinomaA pancreatic adenocarcinoma that arises from pancreatic duct cells.Pancreatic Ductal CarcinomaA pancreatic carcinoma in the pancreatic duct.Pancreatic Endocrine CarcinomaAn islet cell tumor that is caused by epithelial cells.Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease SyndromeA syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that is caused by heterozygous mutation in GATA6 on chromosome 18q11.2.Pancreatic Intraductal Papillary-Mucinous NeoplasmA pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.Pancreatic Serous CystadenocarcinomaA serous cystadenocarcinoma that is in the pancreas.Pancreatic Solid Pseudopapillary CarcinomaA pancreatic carcinoma that is characterized by its papillary architecture.Pancreatic Squamous Cell CarcinomaA squamous cell carcinoma located in the pancreas.PancreatitisInflammation of the pancreas.PancytopeniaAn anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets.Panic DisorderRecurring, unexpected panic attacks. Tracking your symptoms and connecting with others who understand can help you manage day to day.PanniculitisA skin disease that is characterized by inflammation of subcutaneous adipose tissue.Pantothenate Kinase-Associated NeurodegenerationA neurodegeneration with brain iron accumulation that is caused by autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.PanuveitisAn uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.PAPA SyndromeA syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.Papillary AdenocarcinomaAn adenocarcinoma that arises from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.Papillary AdenofibromaAn adenofibroma that is characterized by finger-like projections on histology.Papillary CarcinomaA carcinoma that is arises from epithelial cells with finger like projections.Papillary CystadenocarcinomaA cystadenocarcinoma that arises from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.Papillary Glioneuronal TumorA central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae.Papillary Renal Cell CarcinomaA renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.Papillary Serous AdenocarcinomaA papillary adenocarcinoma that arises from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.Papillary Squamous CarcinomaA squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibr Papillary Thyroid CarcinomaA differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.Papillary Transitional CarcinomaA transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.Papillary Tumor of the Pineal RegionA pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture.PapillomaA cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue.Papillon-Lefevre DiseaseAn ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and is caused by homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q1 ParacoccidioidomycosisA primary systemic mycosis that causes systemic fungal infection in mucosa, in lymph nodes, in bone, in skin or in lungs, is caused by Paracoccidioides brasiliensis.ParagangliomaA pheochromocytoma that arises in extraadrenal sympathetic ganglia.ParagonimiasisA parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegal Paralytic PoliomyelitisA poliomyelitis that results in destruction located in motor neurons of central nervous system, is caused by Human poliovirus 1, is caused by Human poliovirus 2, or is caused by Human poliovirus 3, which are transmitted Parameningeal Embryonal RhabdomyosarcomaAn embryonal rhabdomyosarcoma located in the parameningeal region.Parametrium Malignant NeoplasmA uterine adnexa cancer that is in the parametrium.Paramyotonia Congenita of Von EulenburgA neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that is caused by heterozygous mutation in the SCN4A gene on chrom Paranasal Sinus CancerA respiratory system cancer that is in the paranasal sinuses.Paranasal Sinus SarcomaA sarcoma and malignant tumor of nasal sinuses that is in the paranasal sinus.Paranasal Sinus Squamous Cell CarcinomaA paranasal sinus cancer that arises from squamous epithelial cells.Paraneoplastic PemphigusA pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin.Paranoid Personality DisorderA personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.Paranoid SchizophreniaA schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.Paraphilia DisorderA sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.Paraphilic DisordersIntense, distressing sexual interests.Parasitic Ectoparasitic Infectious DiseaseA parasitic infectious disease that is caused by organisms that live primarily on the surface of the host.Parasitic Helminthiasis Infectious DiseaseA parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.Parasitic Ichthyosporea Infectious DiseaseA parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.Parasitic Infectious DiseaseA disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.Parasitic Protozoa Infectious DiseaseA parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.ParasomniasAbnormal behaviors during sleep like sleepwalking.Parastremmatic DwarfismAn osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that is caused by heterozygous mutation in the TRPV4 gene on chromosome 12q24.11 Paratesticular LipomaA reproductive organ benign neoplasm that arises from fat cells in the paratesticular region.Parathyroid AdenomaA parathyroid gland benign neoplam that is in the parathyroid.Parathyroid CarcinomaAn endocrine gland cancer in the parathyroid glands located in the neck.Parathyroid Gland Benign NeoplasmAn endocrine organ benign neoplasm that is in some parathyroid gland.Parathyroid Gland DiseaseAn endocrine system disease that is in the parathyroid gland.Paratyphoid FeverA primary bacterial infectious disease that causes infection in intestine, is caused by Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted by ingestion of contaminated food. The infecti Paraurethral Gland CancerA female reproductive organ cancer that is in the paraurethral glands.Parenchymatous NeurosyphilisA tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection causes irritability, causes difficulty concentrating, causes deterioration of memory, causes Parietal ForaminaAn inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, is caused by mutation in the ALX4 gene or MSX2 gene.Parietal Lobe EpendymomaA parietal lobe neoplasm that is caused by cells lining the ventricles of the brain.Parietal Lobe NeoplasmA cerebrum cancer that is in the parietal lobe.ParkinsonismA movement disorder that is characterized by disturbances of balance, gait and posture.Parkinson's DiseaseA progressive condition that affects movement and balance. Tracking your symptoms and connecting with others who understand can help you manage day to day.Parkinson'S Disease 1A late onset Parkinson's disease that is caused by mutation in the alpha-synuclein gene on chromosome 4q22.1.Parkinson'S Disease 14A late-onset Parkinson disease that is caused by homozygous mutation in the PLA2G6 gene on chromosome 22q13.Parkinson'S Disease 15An early-onset Parkinson's disease that is caused by mutation in the FBXO7 gene on chromosome 22q12.3.Parkinson'S Disease 17A late-onset Parkinson disease that is caused by heterozygous mutation in the VPS35 gene on chromosome 16q13.Parkinson'S Disease 19AAn early-onset Parkinson's diseas that is caused by homozygous mutation in the DNAJC6 gene on chromosome 1p31.Parkinson'S Disease 2An early-onset Parkinson's disease that is caused by mutation in the parkin gene on chromosome 6q25.2-q27.Parkinson'S Disease 20An early-onset Parkinson disease that is caused by homozygous mutation in the SYNJ1 gene on chromosome 21q22.Parkinson'S Disease 21A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years.Parkinson'S Disease 22A late onset Parkinson's disease that is caused by autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2.Parkinson'S Disease 23An early-onset Parkinson disease that is caused by homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.Parkinson'S Disease 25An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that is caused by homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11.Parkinson'S Disease 27A Parkinson's disease that is caused by mutation in the GBA1 gene on chromosome 1q22.Parkinson'S Disease 3A late onset Parkinson's disease characterized by mean age of onset of 59 years and that is caused by mutation in a locus in the 2p13 chromosome region.Parkinson'S Disease 4A late onset Parkinson disease that is caused by heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.Parkinson'S Disease 6An early-onset Parkinson's disease that is caused by mutations in the PINK1 gene on chromosome 1p36.12.Parkinson'S Disease 7An early-onset Parkinson's disease that is caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.Parkinson'S Disease 8A late onset Parkinson's disease that is caused by heterozygous mutation in the dardarin encoding gene on chromosome 12q12.ParonychiaA nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or to Parotid DiseaseA salivary gland disease that is located in the parotid gland.Parotid Gland Adenoid Cystic CarcinomaA parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.Parotid Gland CancerA salivary gland cancer that is in the parotid gland.ParotitisA parotid disease characterized by the inflammation of one or both parotid glands.Parovarian CystA female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary.Paroxysmal Extreme Pain DisorderAn autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that is caused by heterozygous mutation in the SCN9A gene o Paroxysmal Nocturnal HemoglobinuriaAn acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, is caused by defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells Paroxysmal Nonkinesigenic Dyskinesia 1A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and is caused by autosomal dominant inheritance of heterozygo Paroxysmal Nonkinesigenic Dyskinesia 2A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that is caused by autosomal dominant inheritance of variation in the c Paroxysmal Nonkinesigenic Dyskinesia 3A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that is caused by heterozygous mutation in the KCNMA1 gene on chromosome 10q22.Parsley AllergyA vegetable allergy triggered by parsley (Petroselinum).Parthenolide Allergic Contact DermatitisAn allergic contact dermatitis that triggered by parthenolide.Partial Androgen Insensitivity SyndromeAn androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action.Partial CryptophthalmiaAn isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea.Partial Fetal Alcohol SyndromeA fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol ex Partial LipodystrophyA lipodystrophy that is characterized by partial loss of adipose tissue.Partial Trisomy Distal 4qA chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that is caused by duplication of the distal portion of chro Partington SyndromeA syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.PasteurellosisA primary bacterial infectious disease that causes systemic infection, is caused by Pasteurella multocida, which is transmitted by animal bite, scratch, or lick. The infection causes joint pain causes fever, causes rigor Patau SyndromeA severe chromosomal condition from an extra chromosome 13.Patent Blue V AllergyA drug allergy that triggered by patent blue V.Pathological GamblingAn impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.Patterned Macular DystrophyA macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and but Patterned Macular Dystrophy 1A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that is caused by Patterned Macular Dystrophy 2A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that is caused by Patterned Macular Dystrophy 3A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fo Patulous Eustachian TubeA eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.PCOSA hormonal condition that affects periods, fertility, and metabolism. Tracking your symptoms and connecting with others who understand can help you manage day to day.PCWH SyndromeA syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features,Peach AllergyA fruit allergy triggered by Prunus persica plant fruit food product.Peanut AllergyA legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.Pearson SyndromeA mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.Pediculus Humanus Capitis InfestationA lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperatu Pediculus Humanus Corporis InfestationA lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne Peeling Skin SyndromeA skin disease that is characterized by the painless, continuous peeling of the top layer of skin.Peeling Skin Syndrome 1A peeling skin syndrome that is caused by homozygous mutation in the CDSN gene on chromosome 6p21.33.Peeling Skin Syndrome 2A peeling skin syndrome that is caused by homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2.Peeling Skin Syndrome 3A peeling skin syndrome that is caused by autosomal recessive inheritance of variation in the chromosome region 19q13.Peeling Skin Syndrome 4A peeling skin syndrome that is caused by homozygous mutation in the CSTA gene on chromosome 3q21.1.Peeling Skin Syndrome 5A peeling skin syndrome that is caused by homozygous mutation in the SERPINB8 gene on chromosome 18q22.1.Peeling Skin Syndrome 6A peeling skin syndrome that is caused by homozygous mutation in the FLG2 gene on chromosome 1q21.3.PEHO SyndromeA brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss.Pelger-Huet AnomalyA hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that is caused by heterozygous mutation in LBR on chromosome 1q42.12.Pelizaeus-Merzbacher DiseaseA rare genetic disorder affecting myelin.PellagraA nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), causes gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific s Pelvic Inflammatory DiseaseA female reproductive system disease that is characterized by an infection of the female reproductive organs.Pelvic Muscle WastingA prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a Pelvic VaricesA varicose veins that is in the pelvis.PemphigoidAn autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not bre Pemphigoid GestationisA pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, causes pruritis, and PemphigusAn autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are Pemphigus FoliaceusA pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin.Pemphigus GestationisA pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180.Pemphigus VulgarisA rare autoimmune disease causing skin blisters.Pendred SyndromeA syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that is caused by homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.Penicillin AllergyA beta-lactam allergy triggered by penicillin.PenicilliosisAn opportunistic mycosis that is caused by Penicillium marneffei, causes systemic infection and causes fever, causes anemia, causes weight loss, causes lymphadenopathy, causes hepatosplenomegaly, causes respiratory signs Penile CancerCancer of the penis.Penile Urethral CancerA male urethral cancer that arises from the penile urethra.Penis Basal Cell CarcinomaA basal cell carcinoma that is in the penis.Penis CarcinomaA penile cancer that is in the skin or tissues of the penis.Penis Carcinoma in SituAn in situ carcinoma that is in the penis.Penis Papillary CarcinomaA papillary carcinoma that is in the penis.Penis SarcomaA sarcoma and malignant neoplasm of penis that is in the penis.Penis Squamous Cell CarcinomaA penis carcinoma that is caused by squamous cells.PentosuriaAn amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that is caused by homozygous or compound heterozygous mutation in DCXR on 17q25.3.Peptic UlcerA sore in the lining of the stomach or upper intestine. Tracking your symptoms and connecting with others who understand can help you manage day to day.Perforated Corneal UlcerA corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment.Perforated EardrumA hole in the eardrum.Periampullary AdenomaAn ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential.PeriarthritisAn arthritis that is characterized by inflammation of the tissues surrounding a joint. It is a common cause of joint pain and stiffness.Pericardial EffusionA pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.Pericardial TuberculosisAn extrapulmonary tuberculosis that is in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction.PericarditisInflammation of the sac surrounding the heart.Pericardium DiseaseA cardiovascular system disease that is in the fibrous sac surrounding the heart.Pericardium LeiomyomaA cardiovascular organ benign neoplasm that arises from smooth muscle cells and that is in the pericardium.Perichondritis of AuricleAn otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common ba PericoronitisA gingival disease that involves infection of the gingival tissue surrounding or overlying an erupting or partially erupted tooth.Pericytoma with T(7;12)A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that is caused by t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion.Periductal Breast MyoepitheliosisA breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts.Peri-Implant DiseaseA periodontal disease affecting the structures surrounding and supporting dental implants.Peri-ImplantitisA peri-implant disease characterized by inflammation in the peri-implant mucosa and progressive loss of supporting bone.Peri-Implant MucositisA peri-implant disease characterised by clinical signs of inflammation without loss of supporting bone.PerineoceleA prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse.Periodic Limb Movement DisorderRepetitive leg movements during sleep.Periodontal DiseaseA mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.PeriodontitisA periodontal disease characterized by progressive destruction of the tooth-supporting apparatus including clinical attachment loss, alveolar bone loss, periodontal pocketing, and gingival bleeding, that is associated wi PeriostitisA connective tissue disease characterized by inflammation in the periosteum of the bone.Peripartum CardiomyopathyA dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery.Peripheral Artery DiseaseNarrowed arteries reduce blood flow, usually to the legs. Tracking your symptoms and connecting with others who understand can help you manage day to day.Peripheral Nerve Sheath NeoplasmA peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves.Peripheral Nervous System Benign NeoplasmA central nervous system benign neoplasm the is in the peripheral nervous system.Peripheral Nervous System DiseaseA nervous system disease that affects the peripheral nervous system.Peripheral Nervous System NeoplasmA nervous system cancer that is located in the peripheral nervous system.Peripheral NeuropathyNerve damage causing weakness, numbness, and pain in the hands and feet.Peripheral T-Cell LymphomaA mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.Peripheral Vascular DiseaseA vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.Peripheral VertigoA vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance.Peritoneal Benign NeoplasmA thoracic benign neoplasm that is in the serous membrane lining the abdominal cavity or coelom.Peritoneal CancerCancer of the abdominal lining.Peritoneal CarcinomaA peritoneum cancer that is in the inside of the abdomen.Peritoneal MesotheliomaA peritoneum cancer that develops from cells of the mesothelium and is in the peritoneum.Peritoneum CancerAn organ system cancer that is located in the peritoneum.PeritonitisA gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from i Periventricular Nodular HeterotopiaA congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.Periventricular Nodular Heterotopia 6A periventricular nodular heterotopia that is caused by heterozygous mutation in the ERMARD gene on chromosome 6q27.Periventricular Nodular Heterotopia 7A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures that is Periventricular Nodular Heterotopia 8A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development that is caused by heterozygous mutation in the ARF1 gene on chromo Periventricular Nodular Heterotopia 9A periventricular nodular heterotopia characterized as a malformation of cortical development that is caused by heterozygous mutation in the MAP1B gene on chromosome 5q13.Perlman SyndromeA syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith Permanent Neonatal Diabetes MellitusA neonatal diabetes that is caused by homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.Pernicious AnemiaAnemia from vitamin B12 deficiency due to poor absorption.Peroxisomal Acyl-CoA Oxidase DeficiencyA peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that is caused by homozygous mutation in the ACOX1 gene on chromosome 17q25.1.Peroxisomal Biogenesis DisorderA peroxisomal biogenesis disorder that is caused by defects in PEX genes.Peroxisomal DiseaseAn inherited metabolic disorder that involves peroxisome malfunction.Peroxisome Biogenesis Disorder 10AA Zellweger syndrome that is caused by homozygous mutation in the PEX3 gene on chromosome 6q24.Peroxisome Biogenesis Disorder 10BA peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that is caused by compound heterozygous mutation in the PEX3 gene on Peroxisome Biogenesis Disorder 11AA Zellweger syndrome that is caused by homozygous mutation in the PEX13 gene on chromosome 2p15.Peroxisome Biogenesis Disorder 11BA peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that is caused by homozygous mutation in the PEX13 gene on chromosom Peroxisome Biogenesis Disorder 12AA Zellweger syndrome that is caused by homozygous mutation in the PEX19 gene on chromosome 1q23.Peroxisome Biogenesis Disorder 13AA Zellweger syndrome that is caused by homozygous mutation in the PEX14 gene on chromosome 1p36.Peroxisome Biogenesis Disorder 14BA peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that is caused by homozygous mutation in the PEX11 Peroxisome Biogenesis Disorder 1AA Zellweger syndrome that is caused by homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.Peroxisome Biogenesis Disorder 1BA peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that is caused by homozygous or compound heterozygous mutation in the Peroxisome Biogenesis Disorder 2AA Zellweger syndrome that is caused by homozygous mutation in the PEX5 gene on chromosome 12p13.Peroxisome Biogenesis Disorder 2BA peroxisomal biogenesis disorder that is caused by homozygous mutation in the PEX5 gene on chromosome 12p13.3.Peroxisome Biogenesis Disorder 3AA Zellweger syndrome that is caused by homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.Peroxisome Biogenesis Disorder 3BA peroxisome biogenesis disorder that is caused by homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.Peroxisome Biogenesis Disorder 4AA Zellweger syndrome that is caused by homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1.Peroxisome Biogenesis Disorder 4BA peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that is caused by homozygous or compound heterozygous mutation in th Peroxisome Biogenesis Disorder 5AA Zellweger syndrome that is caused by homozygous mutation in the PEX2 gene on chromosome 8q21.Peroxisome Biogenesis Disorder 5BA peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that is caused by homozygous or compound heterozygous mutation in th Peroxisome Biogenesis Disorder 6AA Zellweger syndrome that is caused by homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.Peroxisome Biogenesis Disorder 6BA peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that is caused by compound heterozygous mutation in the PEX10 gene o Peroxisome Biogenesis Disorder 7AA Zellweger syndrome that is caused by homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.Peroxisome Biogenesis Disorder 7BA peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that is caused by homozygous or compound heterozygous mutation in th Peroxisome Biogenesis Disorder 8AA Zellweger syndrome that is caused by homozygous mutation in the PEX16 gene on chromosome 11p11.Peroxisome Biogenesis Disorder 8BA peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that is caused by homozygous mutation in the PEX16 gene on chromosom Peroxisome Biogenesis Disorder 9BA peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that is caused by homozygous or compound heterozygous mutation in th Perrault SyndromeA syndrome that is characterized by sensorineural hearing loss and ovarian failure.Perrault Syndrome 2A Perrault syndrome that is characterized by sensorineural deafness in both males and females that is caused by compound heterozygous mutation in the HARS2 gene on chromosome 5q31.Perrault Syndrome 6A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that is caused by homozygous Perrault Syndrome 7A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that is caused by compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22.Perry SyndromeA syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that is caused by heterozygous mutation in the DCTN1 gene on chromosome 2p13.Persian Gulf SyndromeA syndrome affecting returning military veterans and civilian workers of the Gulf War.Persistent Depressive DisorderChronic, low-grade depression lasting two years or more.Persistent Generalized LymphadenopathyA lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found.Persistent Hyperplastic Primary VitreousA developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development.Persistent Mild AsthmaA chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per we Persistent Moderate AsthmaA chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity.Persistent Mullerian Duct SyndromeA pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.Persistent Severe AsthmaA chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day a Personality DisorderA disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.PertussisA commensal bacterial infectious disease that causes inflammation in respiratory tract, is caused by Bordetella pertussis, or is caused by Bordetella parapertussis, which produce toxins that paralyze the cilia of the res Pervasive Developmental DisorderA developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.Pes Anserinus BursitisA bursitis that is characterized by inflammation of the bursal sac beneath the pes anserinus, resulting in: medial knee pain.Peters AnomalyA corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that is caused by mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome Peters Plus SyndromeA syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.PetrositisAn osteomyelitis that is caused by infection in petrous part of temporal bone.Peutz-Jeghers SyndromeAn intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that is caused by heterozygous PFAPA SyndromeAn autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.Pfeiffer SyndromeAn acrocephalosyndactylia that is caused by mutations in the FGFR1 and FGFR2 gene which causes premature fusion in skull.Phacogenic GlaucomaA glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and causes progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trau Phacolytic GlaucomaA phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and causes chronic progressive vision loss with acute onset of pain, redness, and bl PhaeohyphomycosisA primary systemic mycosis in subcutaneous tissues, in brain, in sinuses, in lungs, or in peritoneal cavity, is caused by Exophiala dermatitidis, is caused by Phialophora, is caused by Curvularia hawaiiensis, is caused b Phagocyte Bactericidal DysfunctionA primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.Phalanx ChondromaA bone benign neoplasm that is in the phalanx that is caused by cartilaginous cells.PHARC SyndromeA syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.PharyngitisInflammation of the throat, also called sore throat.Pharyngoconjunctival FeverA viral infectious disease that results in infection located in pharynx or located in conjunctiva, is caused by Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of Pharynx CancerA gastrointestinal system cancer that is in the pharynx.Pharynx Carcinoma in SituAn in situ carcinoma of the pharynx that is in the epithelium. It is associated with the development of squamous cell carcinoma.Pharynx Squamous Cell CarcinomaA pharynx cancer that is caused by squamous cells.Phelan-McDermid SyndromeA chromosomal deletion syndrome that is caused by a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of Phencyclidine AbuseA substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.Phenobarbital AllergyA drug allergy that triggered by phenobarbital.PhenylketonuriaA genetic condition where the body can't break down the amino acid phenylalanine.Phenylketonuria (PKU)A genetic condition where the body can't break down an amino acid. Tracking your symptoms and connecting with others who understand can help you manage day to day.Phenytoin AllergyA drug allergy that triggered by phenytoin.PheochromocytomaA rare tumor of the adrenal gland that releases excess hormones.Pheochromocytoma/Paraganglioma Syndrome 1A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material basis in heterozygous mutation in the SDHD gene.Pheochromocytoma/Paraganglioma Syndrome 2A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material basis in heterozygous mutation in the SDHAF2 gene.Pheochromocytoma/Paraganglioma Syndrome 3A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material basis in heterozygous mutation in the SDHC gene.Pheochromocytoma/Paraganglioma Syndrome 4A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material basis in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydr Pheochromocytoma/Paraganglioma Syndrome 5A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material basis in heterozygous mutation in the SDHA gene on chromosome 5p15.Pheochromocytoma/Paraganglioma Syndrome 6A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material basis in heterozygous mutation in the SLC25A11 gene on chromosome 17p13.Pheochromocytoma/Paraganglioma Syndrome 7A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material basis in heterozygous mutation in the DLST gene on chromosome 14q24.PHGDH DeficiencyA serine deficiency that is caused by deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.PhilophthalmiasisA parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Su PhlebitisA vein disease that is characterized by inflammation of a vein.Phlebotomus FeverA viral infectious disease that results in infection, is caused by Sandfly fever Naples virus (Phlebovirus napoliense) or Sandfly fever sicilian virus (Phlebovirus siciliaense), which are transmitted by Phlebotomus papat Phobic DisorderAn anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.PhonagnosiaAn agnosia that is a loss of the ability to recognize familiar voices.Phosphoglycerate Kinase 1 DeficiencyA glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that is caused by hemizygous or homozygo Phosphoribosylpyrophosphate Synthetase SuperactivityAn inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that is caused by X-linked recessive inheritance of mutations Photoallergic DermatitisAn allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and Photosensitive EpilepsySeizures triggered by flashing or flickering lights.Photosensitive TrichothiodystrophyA trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.Photosensitive Trichothiodystrophy 1A photosensitive trichothiodystrophy that is caused by homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.Photosensitive Trichothiodystrophy 2A photosensitive trichothiodystrophy that is caused by homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3.Photosensitive Trichothiodystrophy 3A photosensitive trichothiodystrophy that is caused by homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3.Phototoxic DermatitisAn irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.Phthalic Anhydride Allergic AsthmaAn allergic asthma that triggered by phthalic anhydride.Phthalyl Group AllergyA drug allergy that triggered by phthalyl group.Physical DisorderA disease that is caused by a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.Physical UrticariaAn urticaria induced by external physical influences.Pica DiseaseAn eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients.Pick'S DiseaseA frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.PiebaldismAn integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that is caused by heterozygous mutation in the KIT gene on chromosome 4q12.Pierpont SyndromeAn autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that is caused by heterozygou Pierson SyndromeA syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with len Pigmentation DiseaseA skin disease that is characterized by discoloration of the skin.Pigment Dispersion SyndromeAn eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.Pigmented Basal Cell CarcinomaA basal cell carcinoma characterized by brown or black pigmentation.Pigmented Paravenous Chorioretinal AtrophyAn eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31.3.Pilarowski-Bjornsson SyndromeAn autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that is caused by heterozygous mutation in t Pilocytic AstrocytomaA childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is in the brain.Pilomyxoid AstrocytomaA pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies.Pineal Gland CancerAn endocrine gland in the pineal gland located in the brain.Pineal Region Mature TeratomaA mature teratoma that is in the pineal region.PineoblastomaA pineal gland neoplasm in the brain.PineocytomaAn endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergen Pinta DiseaseA primary bacterial infectious disease that causes infection in skin, is caused by Treponema carateum, which is transmitted by contact with skin and mucous membrane of an infected person. The infection causes pruritic pl PinwormA common intestinal worm infection in children.Piperacillin AllergyA beta-lactam allergy that triggered by piperacillin.Pitt-Hopkins-Like Syndrome 2A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that is caused by compound heterozygous or Pitt-Hopkins SyndromeA syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that is caused by heterozygous de novo mutations in the TCF4 gene i PituicytomaA posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements.Pituitary AdenomaA pituitary gland benign neoplasm that arises from glandular epithelial cells.Pituitary Adenoma 1A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that is caused by heterozygous mutation in AIP on chromosome 11q13.2.Pituitary Adenoma 3A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that is caused by somatic mutation in the GNAS gene on chromosome 20q13.Pituitary Adenoma 5A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that is caused by heterozygous mutation in the CDH23 gene on chromosome 10q22.1.Pituitary BlastomaA pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.Pituitary CancerAn endocrine gland cancer in the pituitary gland located at the base of the brain.Pituitary Gland Benign NeoplasmA benign neoplasm located in the pituitary gland.Pituitary Gland DiseaseAn endocrine system disease that is in the pituitary gland.Pituitary TumorA growth on the pituitary gland that can affect hormone levels.Pityriasis RoseaA temporary rash that starts with a single large patch.Pityriasis Rubra PilarisA skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.Pityriasis VersicolorA superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and cover Placenta AccretaA placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium.Placenta CancerA female reproductive organ cancer that is in the placenta.Placenta DiseaseA uterine disease that is in the placenta.Placental AbruptionA placenta disease that is characterized by separation of the placental lining from the uterus of the mother.Placental ChoriocarcinomaA gestational choriocarcinoma that is in the placenta.Placental InsufficiencyA placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.Placental Site Trophoblastic TumorA choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.Placenta PraeviaA placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.PLACK SyndromeAn skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that is caused by homozygous mutation in the CAST gene on chromosome 5q15.PlagueA primary bacterial infectious disease that causes infection, in lymph node, in vasculature or in lungs, is caused by Yersinia pestis, which is transmitted by oriental rat flea (Xenopsylla cheopis) infected by feeding on Plantar Fascial FibromatosisA connective tissue disease characterized by progressive fibrosis and thickening in the palmar fascia and causes early painless nodules, causes decreased range of motion, causes weakened grip, and causes eventual contrac Plantar FasciitisHeel pain from inflammation of the tissue on the foot's bottom. Tracking your symptoms and connecting with others who understand can help you manage day to day.Plantar WartA viral infectious disease that causes benign epithelial tumors in skin of the sole or toes of the foot, is caused by human papillomavirus (types 1, 2, 4 or 63), causes lesions that appear on the sole of the foot.Plasmablastic LymphomaA large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells.Plasma Cell LeukemiaA plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.Plasma Cell NeoplasmA mature B-cell neoplasm that is composed of plasma cells.Plasma Protein Metabolism DiseaseAn inherited metabolic disorder that involves plasma protein metabolism malfunction.Plasminogen Deficiency Type IA syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that is caused by homo Plasmodium Falciparum MalariaA malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.Plasmodium Malariae MalariaA malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.Plasmodium Ovale MalariaA malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously.Plasmodium Vivax MalariaA malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.Platelet-Type Bleeding Disorder 10A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that is caused by homozygous or compound heterozygo Platelet-Type Bleeding Disorder 11A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that is caused by compound heterozygous mut Platelet-Type Bleeding Disorder 12A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to defici Platelet-Type Bleeding Disorder 14A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that is caused by mutation in the TBXAS1 gene on chromosome Platelet-Type Bleeding Disorder 15A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that is caused by heterozygous mutation in the A Platelet-Type Bleeding Disorder 16A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that is caused by heterozygo Platelet-Type Bleeding Disorder 17A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in pl Platelet-Type Bleeding Disorder 18A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that is caused by homozygous mutation in Platelet-Type Bleeding Disorder 19A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that is cau Platelet-Type Bleeding Disorder 20A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that i Platelet-Type Bleeding Disorder 3A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that is caused by mutation in the GP1BA gene on chromosome 17p13.2.Platelet-Type Bleeding Disorder 8A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that is caused by homozygous or compound heterozygous mutation in the P2RY Platelet-Type Bleeding Disorder 9A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that is caused by mutation in the ITGA2 gene on chromosome 5q11 Pleomorphic AdenomaA gastrointestinal system benign neoplasm that is a in the salivary glands.Pleomorphic CarcinomaA sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma.Pleomorphic LipomaA lipoma that is characterized by floret giant cells with overlapping nuclei.Pleomorphic XanthoastrocytomaA low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.Pleomorphic Xanthoastrocytoma BRAF MutantAn anaplastic pleomorphic xanthoastrocytoma that is caused by BRAF mutations.Pleural CancerA connective tissue cancer that in the pleura.Pleural DiseaseA thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main Pleural EmpyemaA soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever,Pleural LipomaA respiratory system benign neoplasm that arises from fat cells and is in the pleura.Pleural TuberculosisAn extrapulmonary tuberculosis that causes lymphocyte-predominant exudative pleural effusion, in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to PleurisyInflammation of the lining around the lungs, causing sharp chest pain.PleuropneumoniaA pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria.Pleuropulmonary BlastomaA pulmonary blastoma that arises from the lung or pleural cavity.Plum AllergyA fruit allergy triggered by Prunus domestica plant fruit food product.PMDDSevere mood and physical symptoms before menstruation. Tracking your symptoms and connecting with others who understand can help you manage day to day.PneumoconiosisAn interstitial lung disease that is caused by the inhalation of dust.PneumocystosisAn opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow PneumoniaInfection that inflames the air sacs in one or both lungs.Pneumonic PlagueA plague that causes infection in lung, which results from direct inhalation of the bacillus and causes fever, causes chills, causes cough and causes difficulty breathing.Pneumonic TularemiaA tularemia that is in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection causes cough, causes chest causes pain, and causes difficulty breathing.PneumothoraxA collapsed lung caused by air leaking into the chest cavity.PodoconiosisAn elephantiasis that is characterized by lymphadema in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposi POEMS SyndromeA blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation.Poikiloderma with NeutropeniaA skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and is caused by mutation in the C16ORF57 Poland SyndromeA physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.PoliomyelitisA viral infection that can cause paralysis.Pollen AllergyA respiratory allergy triggered by pollen.Polyarteritis NodosaInflammation of medium-sized arteries.Polycystic EchinococcosisAn echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.Polycystic Kidney DiseaseCysts grow in the kidneys and can reduce function. Tracking your symptoms and connecting with others who understand can help you manage day to day.Polycystic Kidney Disease 1A autosomal dominant polycystic kidney disease that is caused by autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.Polycystic Kidney Disease 2A autosomal dominant polycystic kidney disease that is caused by autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.Polycystic Kidney Disease 3A autosomal dominant polycystic kidney disease that is caused by autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.Polycystic Kidney Disease 4A autosomal recessive polycystic kidney disease that is caused by mutation in the PKD4 gene.Polycystic Kidney Disease 5A autosomal recessive polycystic kidney disease that is caused by autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22.Polycystic Kidney Disease 6An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade th Polycystic Kidney Disease 7A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney di Polycystic Kidney Disease 8An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that is caused by heterozygous mutation in the NEK8 gene on chromosome 17q11.Polycystic Liver DiseaseA liver disease that is characterized by the presence of multiple cysts in the liver.Polycystic Liver Disease 1A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that is caused by heterozygous mutation in the PRKCSH gene on chromosome 19p13.Polycystic Liver Disease 2A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that is caused by heterozygous mutation in the SEC63 gene on chromosome 6q21.Polycystic Liver Disease 3A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that is caused by heterozygous mutation in the ALG8 gene on chromosome 11q14.Polycystic Liver Disease 4A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that is caused by heterozygous mutation in the LRP5 gene on chromosome 11q13.Polycystic Ovary SyndromeA hormonal condition affecting ovulation and periods.Polycythemia VeraThe bone marrow makes too many red blood cells. Tracking your symptoms and connecting with others who understand can help you manage day to day.PolydactylyA physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.Polyembryoma of the OvaryAn ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies.Polygenic DiseaseA genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci.PolyhydramniosA placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.Polyhydramnios, Megalencephaly, and Symptomatic EpilepsyA syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that is caused by homozygous mutation in the STRADA gene on PolymicrogyriaA brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface Polymorphous Low Grade Neuroepithelial Tumour of the YoungA central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epi Polymyalgia RheumaticaPain and stiffness in the shoulders and hips. Tracking your symptoms and connecting with others who understand can help you manage day to day.PolymyositisAn inflammatory disease causing muscle weakness.PolyneuropathyA peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and bur Polyomavirus-Associated NephropathyA viral infectious disease is caused by BK polyomavirus (Betapolyomavirus hominis).PolyradiculoneuropathyA peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves.PolyradiculopathyA radiculopathy that is present in more than one nerve.Polyvesicular Vitelline Pattern Ovarian Yolk Sac TumorAn ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma.Pompe DiseaseA genetic disorder causing glycogen buildup in muscles.PompholyxA sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and causes pruritis and cracked skin.Pontiac FeverA legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.Pontocerebellar HypoplasiaA neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.Pontocerebellar Hypoplasia Type 1A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.Pontocerebellar Hypoplasia Type 10A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, is caused by autosomal recessive inheritance of mutation in the CLP1 gene.Pontocerebellar Hypoplasia Type 11A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that Pontocerebellar Hypoplasia Type 12A pontocerebellar hypoplasia that is caused by homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2.Pontocerebellar Hypoplasia Type 13A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that is caused Pontocerebellar Hypoplasia Type 14A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that is caused by homozygous or compound Pontocerebellar Hypoplasia Type 15A pontocerebellar hypoplasia that is caused by homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21.Pontocerebellar Hypoplasia Type 16A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that is caused by homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10 Pontocerebellar Hypoplasia Type 1AA pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, is caused by homozygous or compound heterozygous mutation in the VRK1 gene.Pontocerebellar Hypoplasia Type 1BA severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, is caused by autosomal recessive inheritance of mutation in the EXOSC3 gene.Pontocerebellar Hypoplasia Type 1CA pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that is caused by homozygous or compound heterozygous mutation in the EXOSC8 gene on Pontocerebellar Hypoplasia Type 1DA pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that is caused by homozygous or compound heterozygous mutation in the EXOSC9 gene on chromoso Pontocerebellar Hypoplasia Type 1EA pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that is caused by homozygous or compound het Pontocerebellar Hypoplasia Type 1FA pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that is caused by homozygous or compound heterozygous mutation in the EXOSC1 Pontocerebellar Hypoplasia Type 2A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy.Pontocerebellar Hypoplasia Type 2AA severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, is caused by autosomal recessive inheritance of mutation in the TSEN54 gene.Pontocerebellar Hypoplasia Type 2BA severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, is caused by autosomal recessive inheritance of mutation in the TSEN2 gene.Pontocerebellar Hypoplasia Type 2CA severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, is caused by autosomal recessive inheritance of mutation in the TSEN34 gene Pontocerebellar Hypoplasia Type 2DA pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, is caused by autosomal recessive inheritance of mutation in the SEPSECS gene.Pontocerebellar Hypoplasia Type 2EA pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that is caused by compound heterozygous mutation in the V Pontocerebellar Hypoplasia Type 2FA pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that is caused by homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q2 Pontocerebellar Hypoplasia Type 3A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, is caused by autosomal recessive inheritance of mutation in th Pontocerebellar Hypoplasia Type 4A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, is caused by autosomal recessive inheritance of mutation in the TSEN54 gene.Pontocerebellar Hypoplasia Type 5A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, is caused by autosomal recessive inheritance of mutation in the TSEN54 gene.Pontocerebellar Hypoplasia Type 6A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, is caused by autosomal recessive inheritance of mutation in the RARS2 gene.Pontocerebellar Hypoplasia Type 7A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, is caused by autosomal recessive mutation in the TOE1 gene.Pontocerebellar Hypoplasia Type 8A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, is caused by autosomal recessive inheritance of mutation in the CHMP1A gene.Pontocerebellar Hypoplasia Type 9A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, is caused by autosomal recessive inheritance of mutation in the AMPD2 gene.Poorly Differentiated ChordomaA chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.Poorly Differentiated Thyroid CarcinomaA thyroid gland carcinoma characterized by intermediate follicular cell differentiation and either high mitotic activity or tumor necrosis.Poor Metabolism of ThiopurinesAn inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.Poor Metabolism of Thiopurines 1A poor metabolism of thiopurines that is caused by homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22.Poor Metabolism of Thiopurines 2A poor metabolism of thiopurines that is caused by variation in the NUDT15 gene on chromosome 13q14.Popliteal Pterygium SyndromeA syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal extern Popov-Chang SyndromeAn autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development with poor or absent speech that is caused by heterozygous mutation in the YWHAZ PorencephalyA brain disease that is characterized by encephalomalacia and cystic brain lesions.PorphyriaAn inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.Porphyria Cutanea TardaAn acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.Portal Vein ThrombosisA hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.Postaxial Acrofacial DysostosisA syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that is caused b Post-Cardiac Arrest SyndromeA syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies.Postcholecystectomy SyndromeA biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy.Posterior Amorphous Corneal DystrophyA stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that is caused by Posterior Fossa EpendymomaA high grade ependymoma that is located within the posterior fossa.Posterior Fossa Group a EpendymomaA posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) e Posterior Fossa Group B EpendymomaA posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence Posterior Fossa MeningiomaA meningioma that affects the posterior cranial fossa.Posterior Pituitary Gland NeoplasmA pituitary gland benign neoplasm that arises from the neurohypophysis.Posterior Polar CataractA cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.Posterior Polymorphous Corneal DystrophyA corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer.Posterior Polymorphous Corneal Dystrophy 1A posterior polymorphous corneal dystrophy that is caused by autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.Posterior Polymorphous Corneal Dystrophy 2A posterior polymorphous corneal dystrophy that is caused by heterozygous mutation in the COL8A2 gene on chromosome 1p34.3.Posterior Polymorphous Corneal Dystrophy 3A posterior polymorphous corneal dystrophy that is caused by heterozygous mutation in the ZEB1 gene on chromosome 10p11.22.Posterior Polymorphous Corneal Dystrophy 4A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that is caused by heterozygous mutation in the GRHL2 gen Posterior Urethra CancerA female urethral cancer in the posterior urethra.Postinfectious EncephalitisAn encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial i Postmenopausal Atrophic VaginitisA vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency.Postpartum DepressionDepression that occurs after childbirth. Tracking your symptoms and connecting with others who understand can help you manage day to day.Postpoliomyelitis SyndromeA poliomyelitis that results in atrophy located in muscle, many years after the initial infection, is caused by Human poliovirus 1, is caused by Human poliovirus 2, or is caused by Human poliovirus 3. It is characterized Post-Thrombotic SyndromeA venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis.Post-Traumatic Stress DisorderDistress after a traumatic event.Postural KyphosisA kyphosis that is caused by slouching which causes stretching of spinal ligament and abnormal formation in vertebra.Postural Orthostatic Tachycardia SyndromeA heart conduction disease characterized by orthostatic intolerance that is caused by heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.Potassium Dichromate Allergic Contact DermatitisAn allergic contact dermatitis that triggered by potassium dichromate.Potocki-Lupski SyndromeA chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that is caused by contiguous gene syndrome caused by duplic Potocki-Shaffer SyndromeA syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that is caused by heterozygosity for a contiguous gene deletion on chromos Potter'S SyndromeA renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.Powassan EncephalitisA viral infectious disease that causes inflammation in brain, is caused by Powassan virus (Orthoflavivirus powassanense), which is transmitted by Ixodes and transmitted by Dermacentor species of ticks. The infection caus Prader-Willi SyndromeA genetic disorder causing low muscle tone and constant hunger.Preaxial Polydactyly IA polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that is caused by homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.Preaxial Polydactyly IIA polydactyly characterized by the presence of 3 phalanges within the thumb that is caused by heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.Preaxial Polydactyly Type IVA polydactyly that is caused by heterozygous mutation in the GLI3 gene on chromosome 7p14.PrediabetesBlood sugar is higher than normal but not yet diabetes. Tracking your symptoms and connecting with others who understand can help you manage day to day.Prediabetes SyndromeA glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.Pre-EclampsiaA hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.Pregnancy AdenomaA breast adenoma that occurs during pregnancy.Pre-Malignant NeoplasmA disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.Premature MenopauseAn ovarian dysfunction that is the loss of normal ovarian function before age 40.Premenstrual Dysphoric DisorderSevere mood symptoms before menstruation.PresbyopiaAge-related difficulty focusing on close objects.Preterm Premature Rupture of the MembranesA female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.Pretibial Dystrophic Epidermolysis BullosaAn epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that is caused by heterozygous or compound heterozygous mutation in the type VII collagen PriapismA peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.Prieto SyndromeA syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that is caused by Primary Amebic MeningoencephalitisA parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures Primary Angle-Closure GlaucomaAn angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic Primary Autosomal Dominant Microcephaly 18A primary microcephaly that is caused by heterozygous mutation in the WDFY3 gene on chromosome 4q21.Primary Autosomal Recessive Microcephaly 1A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.Primary Autosomal Recessive Microcephaly 10A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.Primary Autosomal Recessive Microcephaly 11A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.Primary Autosomal Recessive Microcephaly 12A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.Primary Autosomal Recessive Microcephaly 13A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.Primary Autosomal Recessive Microcephaly 14A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.Primary Autosomal Recessive Microcephaly 15A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that is caused by homozygous or compound heterozygous Primary Autosomal Recessive Microcephaly 16A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.Primary Autosomal Recessive Microcephaly 17A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.Primary Autosomal Recessive Microcephaly 19A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.Primary Autosomal Recessive Microcephaly 20A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31.Primary Autosomal Recessive Microcephaly 21A primary autosomal recessive microcephaly that is caused by homozygous mutation in the NCAPD2 gene on chromosome 12p13.Primary Autosomal Recessive Microcephaly 22A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25.Primary Autosomal Recessive Microcephaly 23A primary autosomal recessive microcephaly that is caused by homozygous mutation in the NCAPH gene on chromosome 2q11.Primary Autosomal Recessive Microcephaly 24A primary autosomal recessive microcephaly that is caused by homozygous mutation in the NUP37 gene on chromosome 12q23.Primary Autosomal Recessive Microcephaly 25A primary autosomal recessive microcephaly that is caused by homozygous mutation in the MAP11 gene on chromosome 7q22.Primary Autosomal Recessive Microcephaly 28A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that is caused by homozygous mutation Primary Autosomal Recessive Microcephaly 29A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavior Primary Autosomal Recessive Microcephaly 2 with or Without Cortical MalformationsA primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.Primary Autosomal Recessive Microcephaly 3A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.Primary Autosomal Recessive Microcephaly 30A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that is caused by homo Primary Autosomal Recessive Microcephaly 31A primary autosomal recessive microcephaly that is characterized by progressive small head circumference and poor overall postnatal growth and that is caused by homozygous mutation in the CDK4 gene on chromosome 12q14.Primary Autosomal Recessive Microcephaly 4A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.Primary Autosomal Recessive Microcephaly 5A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.Primary Autosomal Recessive Microcephaly 6A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.Primary Autosomal Recessive Microcephaly 7A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.Primary Autosomal Recessive Microcephaly 8A primary autosomal recessive microcephaly that is caused by homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.Primary Autosomal Recessive Microcephaly 9A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associate Primary Bacterial Infectious DiseaseA bacterial infectious disease that causes infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need Primary Biliary CholangitisAn autoimmune disease that slowly destroys the bile ducts.Primary Biliary Cholangitis 1A primary biliary cholangitis that is caused by variation at the IL12A locus on chromosome 3q25.33.Primary Biliary Cholangitis 2A primary biliary cholangitis that is caused by variation at the HLA-DQB1 locus on chromosome 6p21.3.Primary Biliary Cholangitis 3A primary biliary cholangitis that is caused by variation at the IL12RB2 locus on chromosome 1p31.2.Primary Biliary Cholangitis 4A primary biliary cholangitis that is caused by variation near the IRF5-TNPO3 locus on chromosome 7q32.Primary Biliary Cholangitis 5A primary biliary cholangitis that is caused by variation at the ZPBP2 locus on chromosome 17q12-q21.Primary Ciliary DyskinesiaA genetic disorder affecting the movement of cilia.Primary Ciliary Dyskinesia 1A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and is caused by compound heterozygous mutation in the DNAI1 Primary Ciliary Dyskinesia 10A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and is caused by homozygous mutatio Primary Ciliary Dyskinesia 11A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low Primary Ciliary Dyskinesia 12A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and is caused by homozygous mutation in the RSPH9 Primary Ciliary Dyskinesia 13A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and is caused by homozygous or compound heterozygous mutation in the L Primary Ciliary Dyskinesia 14A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and is caused by homozygous or c Primary Ciliary Dyskinesia 15A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and is caused by homozygous or compound heter Primary Ciliary Dyskinesia 16A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus an Primary Ciliary Dyskinesia 17A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects an Primary Ciliary Dyskinesia 18A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable oc Primary Ciliary Dyskinesia 19A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and is caused by homozygo Primary Ciliary Dyskinesia 2A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occuren Primary Ciliary Dyskinesia 20A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and is Primary Ciliary Dyskinesia 21A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and is caused by homozygous mutation in the DRC1 gene Primary Ciliary Dyskinesia 22A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, vari Primary Ciliary Dyskinesia 23A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs in Primary Ciliary Dyskinesia 24A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and is caused by homozygous or compound heterozygous mutation in the RSPH1 gene on chrom Primary Ciliary Dyskinesia 25A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occ Primary Ciliary Dyskinesia 26A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and v Primary Ciliary Dyskinesia 27A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and is caused by homozygous mutation Primary Ciliary Dyskinesia 28A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and is cause Primary Ciliary Dyskinesia 29A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and is caused by homozygous or compound heterozygous mu Primary Ciliary Dyskinesia 3A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and is caused by homozygous or compound hetero Primary Ciliary Dyskinesia 30A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and var Primary Ciliary Dyskinesia 32A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infecti Primary Ciliary Dyskinesia 33A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and is caused by homozygous mutation in the GAS8 gene on chromosome 16q24.Primary Ciliary Dyskinesia 34A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and is caused by homozygous mutation in the DNAJB13 ge Primary Ciliary Dyskinesia 35A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infe Primary Ciliary Dyskinesia 36A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about h Primary Ciliary Dyskinesia 37A primary ciliary dyskinesia that is caused by homozygous mutation in the DNAH1 gene on chromosome 3p21.Primary Ciliary Dyskinesia 38A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that is Primary Ciliary Dyskinesia 39A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that is caused by homoz Primary Ciliary Dyskinesia 4A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and is caused by variation in the chromosome region 15q13.1-q15.1.Primary Ciliary Dyskinesia 40A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all report Primary Ciliary Dyskinesia 41A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that is caused by homozygous or compound heterozygous Primary Ciliary Dyskinesia 42A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infe Primary Ciliary Dyskinesia 43A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and l Primary Ciliary Dyskinesia 44A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus tha Primary Ciliary Dyskinesia 45A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients,Primary Ciliary Dyskinesia 46A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that is caused by homozygous mutation in the STK36 Primary Ciliary Dyskinesia 47 and LissencephalyA primary ciliary dyskinesia characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood and neurologic features, such as impaired i Primary Ciliary Dyskinesia 48A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules Primary Ciliary Dyskinesia 49A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flage Primary Ciliary Dyskinesia 5A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and is caused by homozygous mutation in the HYDIN gene on chromosome 16q22.Primary Ciliary Dyskinesia 50A primary ciliary dyskinesia characterized by chronic sinusitis, bronchitis, and male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella resulting from defects o Primary Ciliary Dyskinesia 51A primary ciliary dyskinesia characterized by male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella, chronic rhinosinusitis and bronchitis, and recurrent upper Primary Ciliary Dyskinesia 52A primary ciliary dyskinesia characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects that is caused by homozygous or compound heterozygous mutation in the DAW1 gene on chro Primary Ciliary Dyskinesia 53A primary ciliary dyskinesia characterized by randomization of the left-right body asymmetry and respiratory symptoms that is caused by homozygous mutation in the CLXN gene on chromosome 8q11.Primary Ciliary Dyskinesia 54A primary ciliary dyskinesia characterized by a mild respiratory phenotype including rhinitis, sinusitis, asthma, and bronchiectasis that is caused by compound heterozygous mutation in the CFAP54 gene on chromosome 12q23 Primary Ciliary Dyskinesia 55A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and is caused by homozygous or compound heterozygous mutation Primary Ciliary Dyskinesia 6A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and is caused by mutation in the TXNDC3 gene on the chromosome 7p14.1.Primary Ciliary Dyskinesia 7A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood an Primary Ciliary Dyskinesia 8A primary ciliary dyskinesia that is caused by variation in the chromosome region 15q24-q25.Primary Ciliary Dyskinesia 9A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality d Primary Coenzyme Q10 Deficiency 1A primary coenzyme Q10 deficiency that is caused by an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.Primary Coenzyme Q10 Deficiency 2A primary coenzyme Q10 deficiency that is caused by an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.Primary Coenzyme Q10 Deficiency 3A primary coenzyme Q10 deficiency that is caused by an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21.Primary Coenzyme Q10 Deficiency 4A primary coenzyme Q10 deficiency that is caused by an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13.Primary Coenzyme Q10 Deficiency 5A primary coenzyme Q10 deficiency that is caused by an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.Primary Coenzyme Q10 Deficiency 6A primary coenzyme Q10 deficiency that is caused by an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.Primary Coenzyme Q10 Deficiency 7A primary coenzyme Q10 deficiency that is caused by an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.Primary Coenzyme Q10 Deficiency 8A primary coenzyme Q10 deficiency that is caused by an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3.Primary Coenzyme Q10 Deficiency 9A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that is caused by mutation homozygous or compound heterozygous in the COQ5 gene Primary Congenital GlaucomaA glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, is caused by mutation in the MYOC gene and appears before the age of 5 without other associated abnorm Primary Cutaneous AmyloidosisAn amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.Primary Cutaneous Gamma-Delta T-Cell LymphomaA primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.Primary Cutaneous T-Cell Non-Hodgkin LymphomaA peripheral T-cell lymphoma that is caused by a mutation of T cells.Primary Diffuse Large B-Cell Lymphoma of the Central Nervous SystemA diffuse large B-cell lymphoma arising from the central nervous system.Primary Failure of Tooth EruptionA tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that is caused by heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.Primary HyperaldosteronismAn adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.Primary HyperoxaluriaA carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.Primary Hyperoxaluria Type 1A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that is caused by homozygous or compound heterozygous mutation in the AGXT gene Primary Hyperoxaluria Type 2A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that is caused by homozygous or compound heteroz Primary Hyperoxaluria Type 3A primary hyperoxaluria characterized by recurring calcium oxalate stones that is caused by homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.Primary HyperparathyroidismA hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.Primary Hypoalphalipoproteinemia 1A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that is caused by heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations caus Primary Hypoalphalipoproteinemia 2A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally a Primary HypomagnesemiaA metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life.Primary ImmunodeficiencyA group of disorders that weaken the immune system.Primary Immunodeficiency DiseaseAn immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.Primary Intracranial Sarcoma, DICER1-MutantA brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are u Primary Lateral SclerosisA rare motor neuron disease.Primary Localized Cutaneous Amyloidosis 1A primary cutaneous amyloidosis that is caused by heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13.Primary Localized Cutaneous Amyloidosis 2A primary cutaneous amyloidosis that is caused by heterozygous mutation in the IL31RA gene on chromosome 5q11.Primary Localized Cutaneous Amyloidosis 3A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that is caused by homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset Primary Mediastinal B-Cell LymphomaA large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis.Primary MicrocephalyA microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation.Primary Open Angle GlaucomaAn open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.Primary Ovarian InsufficiencyAn ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.Primary Ovarian Insufficiency 1A primary ovarian insufficiency that is caused by premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).Primary Ovarian Insufficiency 10A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that is caused by homozygous mutation in the MCM8 gene on Primary Ovarian Insufficiency 11A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that is caused by Primary Ovarian Insufficiency 12A primary ovarian insufficiency that is caused by homozygous mutation in the SYCE1 gene on chromosome 10q26.Primary Ovarian Insufficiency 13A primary ovarian insufficiency that is caused by homozygous mutation in the MSH5 gene on chromosome 6p21.Primary Ovarian Insufficiency 14A primary ovarian insufficiency that is caused by homozygous mutation in the GDF9 gene on chromosome 5q31.Primary Ovarian Insufficiency 15A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that is caused by homo Primary Ovarian Insufficiency 16A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that is caused by Primary Ovarian Insufficiency 17A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that is caused by homozygous mutation in the XRCC2 gene on chromosome 7q36.Primary Ovarian Insufficiency 18A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that is caused by homozygous or compound heterozygous mutation in C14orf39 on chromoso Primary Ovarian Insufficiency 19A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that is caused by homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22.Primary Ovarian Insufficiency 2AA primary ovarian insufficiency that is caused by mutation in the DIAPH2 gene on chromosome Xq22.Primary Ovarian Insufficiency 2BA primary ovarian insufficiency that is caused by mutation in the POF1B gene.Primary Ovarian Insufficiency 3A primary ovarian insufficiency characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations that is caused by heterozygo Primary Ovarian Insufficiency 4A primary ovarian insufficiency that is caused by caused by mutation in the BMP15 gene on chromosome Xp11.Primary Ovarian Insufficiency 5A primary ovarian insufficiency that is caused by heterozygous mutation in the NOBOX gene on chromosome 7q35.Primary Ovarian Insufficiency 6A primary ovarian insufficiency that is caused by heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13.Primary Ovarian Insufficiency 7A primary ovarian insufficiency that is caused by heterozygous mutation in the NR5A1 gene on chromosome 9q33.Primary Ovarian Insufficiency 8A primary ovarian insufficiency that is caused by homozygous mutation in the STAG3 gene on chromosome 7q22.Primary Ovarian Insufficiency 9A primary ovarian insufficiency that is caused by compound heterozygous mutation in the HFM1 gene on chromosome 1p22.Primary Pigmented Nodular Adrenocortical DiseaseAn adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.Primary Pigmented Nodular Adrenocortical Disease 1A primary pigmented nodular adrenocortical disease that is caused by heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2.Primary Pigmented Nodular Adrenocortical Disease 2A primary pigmented nodular adrenocortical disease that is caused by heterozygous mutation in the PDE11A gene on chromosome 2q31.2.Primary Pigmented Nodular Adrenocortical Disease 3A primary pigmented nodular adrenocortical disease that is caused by heterozygous mutation in the PDE8B gene on chromosome 5q13.3.Primary Pigmented Nodular Adrenocortical Disease 4A primary pigmented nodular adrenocortical disease that is caused by duplication on chromosome 19p13 that includes the PRKACA gene.Primary PolycythemiaA polycythemia that is caused by factors intrinsic to red cell precursors.Primary Progressive AphasiaA frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, includi Primary Progressive Multiple SclerosisA multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or tem Primary Pulmonary HypertensionA chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg Primary Sclerosing CholangitisInflammation and scarring of the bile ducts.Primary Spontaneous PneumothoraxA pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung.Primary SyphilisA syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes.Primary Systemic MycosisA systemic mycosis that causes infection in human body, is caused by Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host Prinzmetal AnginaA coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity.Prion DiseaseA brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.ProctitisA rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herp ProgeriaA rare condition causing rapid aging in children.Progeroid SyndromeA syndrome that is characterized by the premature onset of age-related pathologies.Progesterone Receptor-Negative Breast CancerA hormone receptor-negative breast cancer that is characterized by the absence of progesterone receptors.Progesterone Receptor-Positive Breast CancerA hormone receptor-positive breast cancer that is characterized by the presence of progesterone receptors.Progressive Bulbar PalsyA rare motor neuron disease affecting speech and swallowing.Progressive Familial Heart BlockA heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breat Progressive Familial Heart Block Type IAA progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that is caused by mutation in the SCN5A gene on chromosome 3p Progressive Familial Heart Block Type IBA progressive familial heart block characterized by that is caused by heterozygous mutation in the TRPM4 gene on chromosome 19q13.Progressive Familial Heart Block Type IIA progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syn Progressive Familial Intrahepatic CholestasisAn intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.Progressive Familial Intrahepatic Cholestasis 1A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that is caused by mutation in the ATP8B1 gene on chromosome 18q21.Progressive Familial Intrahepatic Cholestasis 2A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that is caused by mutation in the ABCB11 gene on chromosome 2q31.Progressive Familial Intrahepatic Cholestasis 3A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that is caused by mutation in the ABCB4 gene on chromosome 7q2 Progressive Familial Intrahepatic Cholestasis 4A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that is caused by mutation in the TJP2 gene on chromosome 9q21.Progressive Familial Intrahepatic Cholestasis 5A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that is caused by mutation in the NR1H4 gene on chromosome 12 Progressive Leukoencephalopathy with Ovarian FailureAn leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that is caused by compound heterozygous mutation in the AARS2 gene on chromosome 6p21.Progressive Microcephaly with Simplified Gyral Pattern and Cerebellar HypoplasiaA congenital nervous system abnormality characterized by severe to profound global developmental delay with inability to sit or walk independently, almost no cognitive development, poor visual fixation, and absent speech Progressive Multifocal LeukoencephalopathyA viral infectious disease that involves reactivation of JC polyomavirus (Betapolyomavirus secuhominis) in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the Progressive Myoclonus EpilepsyA variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.Progressive Myoclonus Epilepsy 10A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that is caused by homozygous or compoud heterozygous mut Progressive Myoclonus Epilepsy 1AAn Unverricht-Lundborg syndrome that is caused by homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.Progressive Myoclonus Epilepsy 1BAn Unverricht-Lundborg syndrome that is caused by homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.Progressive Myoclonus Epilepsy 3A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that is caused by homozygous or compound heterozygous mutation in the KCTD7 gene o Progressive Myoclonus Epilepsy 4A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that is caused by homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21 Progressive Myoclonus Epilepsy 6A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that is Progressive Myoclonus Epilepsy 7A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that is caused by heterozygous mutation in the KCNC1 gen Progressive Myoclonus Epilepsy 8A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that is caused by ho Progressive Myoclonus Epilepsy 9A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that is caused by homozygous or compound heterozygous mutation in the LMNB2 gene on chro Progressive Non-Fluent AphasiaA primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech.Progressive Osseous HeteroplasiaA syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that is caused by heterozygous loss of function mutation in the Gs-alpha isofor Progressive Peripheral PterygiumA conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and causes fleshy bumps on the surface of the eye, foreign body sensation, decreased visio Progressive Pseudorheumatoid Arthropathy of ChildhoodA osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of infla Progressive Relapsing Multiple SclerosisA multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.Progressive Supranuclear PalsyA rare disorder that affects balance, movement, and eye control.Prolactin Producing Pituitary TumorA pituitary carcinoma that is in the anterior lobe of the pituitary gland that produces prolactin.Prolapse of Female Genital OrganA female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening.Prolapse of UrethraA prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening.Prolidase DeficiencyAn amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack Proliferative Type Fibrocystic Change of BreastA breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly SyndromeA syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcificati Prolymphocytic LeukemiaA chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.Propionic AcidemiaAn organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.Proprotein Convertase 1/3 DeficiencyA syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that is caused by homozygous or compound heterozygous mut ProsopagnosiaAn agnosia that results in the loss of the ability to consciously recognize familiar faces.Prostate AdenocarcinomaA prostate carcinoma that arises from epithelial cells of glandular origin.Prostate AngiosarcomaAn angiosarcoma and sarcoma of prostate that is in the prostate.Prostate CancerCancer of the prostate gland. Tracking your symptoms and connecting with others who understand can help you manage day to day.Prostate CarcinomaA prostate cancer that is caused by abnormally proliferating cells arises from epithelial cells.Prostate Carcinoma in SituAn in situ carcinoma that is in the prostate.Prostate Colloid AdenocarcinomaA prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure.Prostate Embryonal RhabdomyosarcomaA prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to u Prostate LeiomyomaA male reproductive organ benign neoplasm that arises from smooth muscle cells and that is in the prostate.Prostate LeiomyosarcomaA prostate sarcoma that is in the prostate.Prostate LymphomaA prostate cancer that affects lymphocytes and arises from the prostate gland.Prostate Malignant Phyllodes TumorA prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland.Prostate RhabdomyosarcomaA rhabdomyosarcoma and sarcoma of prostate that is in the prostate.Prostate SarcomaA prostate cancer that is in the prostate.Prostate Squamous Cell CarcinomaA squamous cell carcinoma that is in the prostate.Prostate Stromal SarcomaA stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is in the prostate.Prostate Transitional Cell CarcinomaA prostate carcinoma that arises from transitional epithelial cells.Prostatic AdenomaA male reproductive organ benign neoplasm that arises from glandular epithelial cells and that is in the prostate.Prostatic Urethral CancerA male urethral cancer that arises from the prostatic urethra.Prostatic Urethra Urothelial CarcinomaA prostatic urethral cancer that arises from the urothelial lining of the prostatic urethra.ProstatitisInflammation of the prostate.Proteasome-Associated Autoinflammatory Syndrome 1A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and labora Proteasome-Associated Autoinflammatory Syndrome 3A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, part Protein C DeficiencyA thrombophilia that is characterized by recurrent venous thrombosis and that is caused by heterozygous mutation in the PROC gene on chromosome 2q14.Protein-Deficiency AnemiaA nutritional deficiency disease that is characterized by inadequate protein intake.Protein-Energy MalnutritionA nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunit Protein S DeficiencyA thrombophilia that is characterized by increased risk of developing abnormal blood clots.ProteinuriaA kidney disease that is characterized by the presence of excess proteins in the urine.Proteosome-Associated Autoinflammatory SyndromeAn autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia a Proteosome-Associated Autoinflammatory Syndrome 2A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that is caused by heterozygous mutation in the POMP Proteosome-Associated Autoinflammatory Syndrome 4A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speec Proteosome-Associated Autoinflammatory Syndrome 5A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persist Proteus SyndromeA syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malforma Prothrombin DeficiencyA thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encodi Protozoal DysenteryA dysentery that involves protozoan infection.Proximal Renal Tubular AcidosisA renal tubular transport disease characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid.Proximal Renal Tubular Acidosis-Ocular Anomaly SyndromeA renal tubular acidosis characterized by a decreased renal HCO3- threshold that is caused by homozygous mutation in the SLC4A4 gene on chromosome 4q13.Proximal SymphalangismA syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.Proximal Symphalangism 1A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that is caused by heterozygous mutation in th Proximal Symphalangism 2A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that Prune Belly SyndromeA syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that is caused by homozygous mutation in the CHRM3 gene on chro PSAT DeficiencyA serine deficiency that is caused by deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.PseudoachondroplasiaAn osteochondrodysplasia that is caused by mutations in the COMP gene which causes short limb dwarfism.Pseudobulbar PalsyA brain disease that is characterized by damage to neurons of the corticobulbar tract, causes dysarthria, causes dysphagia, causes spasticity in tongue, causes gag reflex, and causes emotional outbursts.PseudohypoparathyroidismA metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and w Pseudohypoparathyroidism Type 1AA pseudohypoparathyroidism that characterized by shortening and widening of long bones in the hand or in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that is Pseudohypoparathyroidism Type 1BA pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that is caused by mutations that alter the methylation Pseudohypoparathyroidism Type 1CA pseudohypoparathyroidism that is caused by a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.Pseudomembranous ConjunctivitisA acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex Pseudomyxoma PeritoneiAn appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.PseudopseudohypoparathyroidismA pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that is ca Pseudo-TORCH Syndrome 1A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that is caused by homozygous or compound heterozygous mutation Pseudoxanthoma ElasticumA connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes,PsoriasisSkin cells build up into red, scaly patches. Tracking your symptoms and connecting with others who understand can help you manage day to day.Psoriasis 1A psoriasis that is caused by variation in the HLA-C gene on chromosome 6p21.33.Psoriasis 10A psoriasis that is caused by variation in a region on chromosome 18p11.23.Psoriasis 11A psoriasis that is caused by variation in a region on chromosome 5q31.1-q33.1 that includes IL12B.Psoriasis 12A psoriasis that is caused by variation in a region on chromosome 20q13 that includes RNF114.Psoriasis 13A psoriasis that is caused by variation in the TRAF3IP2 gene on chromosome 6q21.Psoriasis 15A psoriasis characterized by pustular psoriasis that is caused by heterozygous mutation in the AP1S3 gene on chromosome 2q36.1.Psoriasis 2A psoriasis that is caused by heterozygous mutation in the CARD14 gene on chromosome 17q25.Psoriasis 3A psoriasis that is caused by variation in a region on chromosome 4q.Psoriasis 4A psoriasis that is caused by variation in a region on chromosome 1q21.Psoriasis 5A psoriasis that is caused by variation in a region on chromosome 3q21.Psoriasis 6A psoriasis that is caused by variation in a region on chromosome 19p13 that includes BSG.Psoriasis 7A psoriasis that is caused by variation in a region on chromosome 1p that includes IL23R.Psoriasis 8A psoriasis that is caused by variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease.Psoriasis 9A psoriasis that is caused by variation in a region on chromosome 4q31-q34.Psoriatic ArthritisJoint inflammation in people who have psoriasis. Tracking your symptoms and connecting with others who understand can help you manage day to day.PSPH DeficiencyA serine deficiency that is caused by deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.Psychologic VaginismusA psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.Psychosexual DisorderA sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin.Psychotic DisorderA cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.PterygiumA noncancerous growth on the eye's surface.Pthirus Pubis InfestationA lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp.PtosisAn eye disease characterized by the drooping or falling of the upper or lower eyelid.PTSDLasting stress reactions after a traumatic event. Tracking your symptoms and connecting with others who understand can help you manage day to day.Pulmonary Adenocarcinoma in SituA lung carcinoma in situ that arises from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.Pulmonary Alveolar MicrolithiasisA lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs.Pulmonary Alveolar ProteinosisA lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.Pulmonary Artery ChoriocarcinomaA choriocarcinoma that is in the pulmonary artery.Pulmonary Artery LeiomyosarcomaA leiomyosarcoma that is in the pulmonary artery.Pulmonary AspergillomaAn aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lu Pulmonary BlastomaA lung cancer that is caused by tissues of the lung and is caused by pleural tissues. It is most commonly effects children.Pulmonary EdemaFluid buildup in the lungs that causes severe shortness of breath.Pulmonary EmbolismA blood clot that blocks an artery in the lungs.Pulmonary EmphysemaA chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.Pulmonary EosinophiliaA hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs.Pulmonary FibrosisScarring in the lungs makes breathing progressively harder. Tracking your symptoms and connecting with others who understand can help you manage day to day.Pulmonary HemosiderosisA lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macroph Pulmonary HypertensionHigh blood pressure in the arteries of the lungs. Tracking your symptoms and connecting with others who understand can help you manage day to day.Pulmonary ImmaturityA lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio.Pulmonary Interstitial EmphysemaA pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation.Pulmonary Plasma Cell GranulomaA lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue.Pulmonary SarcoidosisA sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, causes shortness of breath, fatigue, wheezing, and Pulmonary TalcosisA pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc.Pulmonary TuberculosisA tuberculosis that is a contagious disease in lungs. The infection causes fever, causes cough, causes difficulty in breathing, causes inflammatory infiltrations, causes formation of tubercles, causes caseation, causes p Pulmonary Type Ovarian Small Cell CarcinomaAn ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type.Pulmonary Valve InsufficiencyA pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur.Pulmonary Vein LeiomyosarcomaA leiomyosarcoma that is in the pulmonary vein.Pulmonary Venoocclusive Disease 1A pulmonary venoocclusive disease that is caused by heterozygous mutation in the BMPR2 gene on chromosome 2q33.Pulmonary Venoocclusive Disease 2A pulmonary venoocclusive disease that is caused by homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferatio PulpitisA dental pulp disease characterized by inflammation.Punctate Palmoplantar KeratodermaA palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distributi Punctate Palmoplantar Keratoderma Type IA punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles.Punctate Palmoplantar Keratoderma Type IIA punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits.Punctate Palmoplantar Keratoderma Type IIIA punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, is caused by autosomal dominant inheritance of mutation in the AAGAB gene.Pure Hair and Nail Ectodermal DysplasiaAn ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations.Pure Red-Cell AplasiaA congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.Purine Nucleoside Phosphorylase DeficiencyA combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that is caused by mutation in the PNP gene and characterized mainly by decreased T-cell function.Purine-Pyrimidine Metabolic DisorderAn inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.Purpura FulminansA purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagula Purulent Acute Otitis MediaA suppurative otitis media with sudden onset and a short course.Purulent LabyrinthitisA labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute oti Pustular Psoriasis 14A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that is caused by homozygous PycnodysostosisAn osteochondrodysplasia that is caused by a mutation in the CTSK gene which causes dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.PyodermaA dermatitis that is characterized by a pyogenic infection causing the formation of pus.PyometritisA uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity.Pyridoxamine 5'-Phosphate Oxidase DeficiencyA vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that is caused by homozygous or compound hete Pyridoxine Deficiency AnemiaA nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and is caused by decreased intake, malabsorption, increased clearance or breakdown, and c Pyridoxine-Dependent EpilepsyAn epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supple Pyridoxine-Responsive Sideroblastic AnemiaA sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and is caused by X-linked inheritance.Pyrimidine Metabolic DisorderAn inherited metabolic disorder involving dysfunction of pyrimidine metabolism.PyromaniaAn impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.Pyruvate Carboxylase Deficiency DiseaseA carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly causes periodic lactate elevati Pyruvate Decarboxylase DeficiencyA carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase comple

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