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Communities

All Communities

  • Pachygyria

    43 members

    Pachygyria is a congenital malformation of the cerebral hemisphere causing developmental delay and seizures.

  • Pachyonychia Congenita

    2 members

    Pachyonychia Congenita is a rare genetic skin disorder.

  • Pallister-Hall Syndrome

    8 members

    Pallister-Hall Syndrome [PHS] is a multiple-anomaly rare genetic disorder caused by mutations in the GLI3 gene, short arm of the 7th Chromosome.

  • Pallister-Killian Syndrome

    4 members

    Pallister-Killian Syndrome is a rare genetic disorder occuring due to tetrasomy of the twelfth chromosome.

  • PANDAS

    8 members

    PANDAS is a rapid onset of obsessive-compulsive disorder after a group A β-hemolytic streptococcal infection.

  • Panhypopituitarism

    41 members

    Panhypopituitarism is a rare disorder characterized by the decreased secretion of hormones from the pituitary gland.

  • Papillon-Lefevre Syndrome

    3 members

    Papillon–Lefevre Syndrome is a rare genetic disorder caused by a cathepsin C deficiency.

  • Paramyotonia Congenita

    5 members

    Paramyotonia Congenita is a rare neuromuscular disorder characterized by myotonia that becomes worse with exercise.

  • Paraneoplastic Cerebellar Degeneration

    9 members

    Paraneoplastic cerebellar degeneration is believed to be the body's immune system's attempt to destroy a tumor resulting in damage to the cerebellum.

  • Paraneoplastic Limbic Encephalitis

    4 members

    Paraneoplastic Limbic Encephalitis is a form encephalitis caused by neoplasms associated with small cell lung carcinoma.

  • Parapsoriasis

    13 members

    Parapsoriasis is a heterogenous group of rare skin disorders characterized by red, scaly skin.

  • Parkinson Disease (Genetic Types)

    6 members

    Parkinson Disease is a progressive disorder of the nervous system.

  • Paroxysmal Kinesigenic Dyskinesia

    6 members

    Paroxysmal Kinesigenic Dyskinesia is a rare neurological disorder characterized by short, recurring attacks of involuntary movement, triggered by sudden voluntary movement.

  • Paroxysmal Nocturnal Hemoglobinuria

    6 members

    Paroxysmal nocturnal hemoglobinuria is a rare blood disorder characterized by anemia due to destruction of red blood cells in the bloodstream, red urine, and thrombosis.

  • Parsonage-Turner Syndrome

    11 members

    Parsonage-Turner Syndrome is a rare disorder affecting the motor neurons of nerves that conduct signals from the spine to the shoulder, arm, and hand.

  • Pelizaeus-Merzbacher Disease

    7 members

    Pelizaeus-Merzbacker Disease (PMD) is an inherited condition, passed on in an X-linked fashion, associated with impaired intellectual functions, limb spasticity and ataxia [1]. It affects the fo...

  • Pemphigus Foliaceus

    2 members

    Pemphigus foliaceus is a rare autoimmune disease of the skin and mucous membranes with characteristic blisters that are scaly and crusted.

  • Pemphigus Vulgaris

    6 members

    Pemphigus Vulgaris is a rare autoimmune skin disease that causes blisters. Most cases can be controlled with treatment, which consists of steroid medicines and other medicines to suppress the immun...

  • Pendred Syndrome

    members

    Pendred Syndrome is a rare genetic disorder causing hearing loss and a swollen thyroid gland.

  • Pentalogy of Cantrell

    4 members

    Pentalogy of Cantrell is a rare disorder characterized by: Omphalocele; Anterior diaphragmatic hernia; Sternal cleft; Ectopia cordis; and Intracardiac defect.

  • Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome

    26 members

    Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome is a disorder characterized by intervals of 3-5 weeks.

  • Periventricular Heterotopia

    5 members

    Periventricular Heterotopia is a rare disorder where nerve cells do not situate properly during the early development of the fetal brain, potentially resulting in seizures and developmental delay.

  • Persistent Fetal Vasculature Syndrome

    4 members

    Persistent Fetal Vasculature Syndrome is a rare disorder in which the lens of the eye is opaque and there is malformation of the retina.

  • Persistent Hyperinsulinemic Hypoglycemia of Infancy

    3 members

    Persistent Hyperinsulinemic Hypoglycemia of Infancy is a rare form of hypoglycemia characterized by severe recurrent hypoglycemia associated with an inappropriate elevation of serum insulin, C-pept...

  • Peutz-Jeghers Syndrome

    10 members

    Peutz-Jeghers Syndrome is a rare genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract.

  • Pfeiffer syndrome

    1 members

    Pfeiffer Syndrome is a genetic disorder characterized by the premature fusion of bones of the skull.

  • Phenylketonuria

    6 members

    Phenylketonuria is an autosomal recessive genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase.

  • Pheochromocytoma and Paraganglioma

    20 members

    Pheochromocytoma is a catecholamine-secreting tumor that arises from chromaffin cells of the sympathetic nervous system. The term paraganglioma refers to any extra-adrenal or nonfunctional tumor of...

  • Phosphofructokinase Deficiency

    3 members

    Phosphofructokinase Deficiency is a metabolic disorder causing muscle cramps and weakness during exercise.

  • Piebaldism

    8 members

    Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical hypopigmented or depigmented macules.

  • Pierre Robin Sequence

    6 members

    Pierre Robin Sequence is a chain of certain developmental malformations.

  • Pigmented Villonodular Synovitis

    10 members

    Pigmented Villonodular Synovitis is a rare joint disorder that generally affects the hip and knee, but can also occur in the shoulder, ankle, elbow, hand and foot.

  • Pilocytic Astrocytoma

    1 members

    Pilocytic Astrocytoma is a brain tumor that occurs predominantly in children.

  • Piriformis Syndrome

    1 members

    Piriformis Syndrome is a disorder in which the sciatic nerve is compressed by the piriformis muscle.

  • Pitt-Hopkins Syndrome

    10 members

    Pitt-Hopkins Syndrome is a very rare genetic disorder characterized mainly by psychomotor delay and in some individuals periods of apnea and/or seizures.

  • Pityriasis Rubra Pilaris

    11 members

    Pityriasis Rubra Pilaris is a group of rare skin disorders characterized by reddish orange patches on the skin and severe flaking.

  • Plasminogen Deficiency

    8 members

    Plasminogen Deficiency is a rare blood disorder related to blood clots that typically only causes eye problems.

  • POEMS Syndrome

    7 members

    POEMS Syndrome is a rare disorder named for its main features: Polyneuropathy (peripheral nerve damage), Organomegaly (abnormal enlargement of organs), Endocrinopathy (damage to hormone-producing ...

  • Poland Syndrome

    17 members

    Poland Syndrome is a rare birth disorder characterized by underdevelopment or absence of the pectoralis on one side of the body.

  • Polyarteritis Nodosa

    8 members

    Polyarteritis Nodosa is inflammation of medium-sized arteriesdue to attacks by rogue immune cells.

  • Polycythemia Vera

    10 members

    Polycythemia Vera is a rare blood disorder characterized by excess red blood cells caused by an abnormality of the bone marrow.

  • Polydactyly Preaxial

    2 members

    Polydactyly Preaxial is a congenital physical anomaly consisting of additional fingers.

  • Polymyalgia Rheumatica

    7 members

    Polymyalgia Rheumatica is an inflammatory condition of the muscles characterized by pain or stiffness.

  • Polymyositis

    31 members

    Polymyositis is a rare form of inflammatory myopathy characterized by inflammation in the muscles.

  • Polysplenia syndrome

    3 members

    Polysplenia syndrome is a disorder characterized by multiple small spleens in the abdominal cavity with absence of the normally located spleen; visceral lateralization and congenital heart malforma...

  • Pontocerebellar Hypoplasia

    19 members

    Pontocerebellar Hypoplasia is a group of rare degenerative neurological disorders resulting in the atrophy of the cerebellar cortex.

  • Porphyria Cutanea Tarda

    4 members

    Porphyria Cutanea Tarda is the most common subtype of resulting in the blistering of the skin when exposed to sunlight.

  • Postural Orthostatic Tachycardia Syndrome

    18 members

    Postural Orthostatic Tachycardia Syndrome is a complex disorder in which a change in position to an upright causes an abnormally large increase in heart rate and a severe drop in blood pressure.

  • Potocki-Lupski Syndrome

    1 members

    Potocki-Lupski Syndrome is the result of the duplication of chromosome 17p11.2.

  • Potocki-Shaffer Syndrome

    9 members

    Potocki-Shaffer Syndrome is a rare genetic disorder resulting from the microdeletion of section 11.2 on the short arm of chromosome 11.

  • Prader-Willi Syndrome

    8 members

    Prader-Willi Syndrome is the most common genetic cause of life-threatening morbid obesity.

  • Pridoxin-Dependent Epilepsy

    1 members

  • Primary Angiitis of the Central Nervous System

    6 members

    Primary Angiitis of the Central Nervous System is a disorder that affects the blood vessels in the central nervous system.

  • Primary Biliary Cholangitis (PBC)

    13 members

    Primary Biliary Cholangitis (or PBC) is a chronic and progressive liver disease resulting from the slowly destruction of the liver bile ducts.  Among other substances the liver pr...

  • Primary Ciliary Dyskinesia

    13 members

    Primary Ciliary Dyskinesia is a rare autosomal recessive genetic disorder that affects the function of cilia.

  • Primary Idiopathic Cold Urticaria

    3 members

    Primary Idiopathic Cold Urticaria is a non-genetic rare inflammatory disorder characterized by fever and rash after generalized exposure to cold temperatures.

  • Primary Immunodeficiency

    12 members

    Primary Immunodeficiency is an inherited disorder characterized by a non-existent immune system or an immune system that does not work correctly.

  • Primary Intestinal Lymphangiectasia

    11 members

    Primary Intestinal Lymphangiectasia is a rare disorder causing protein to be lost from the intestines due to enlarged lymph vessels that supply the lining of the small intestine.

  • Primary lateral sclerosis

    5 members

    Primary lateral sclerosis is a rare neuromuscular disease.

  • Primary Lymphedema

    3 members

    Primary Lymphedema is a rare, inherited, disorder characterized by abnormal formations of lymphatic vessels before birth.

  • Primary Orthostatic Tremor

    10 members

    Primary Orthostatic Tremor is a rare disorder characterized by tremors of the legs.

  • Primary Sclerosing Cholangitis

    8 members

    Primary Sclerosing Cholangitis (PSC) is a rare disorder that damages and blocks bile ducts inside and outside the liver.

  • Prinzmetal's Angina

    7 members

    Prinzmetal's Angina is a disorder characterized by cycles of angina (cardiac chest pain) at when resting.

  • Progeria

    8 members

    Progeria, or Hutchinson-Gilford Progeria Syndrome, is a rare, fatal, “premature aging” disease that afflicts children, who die of atherosclerosis (heart disease) at an average age of thirteen years...

  • Progressive Familial Intrahepatic Cholestasis

    6 members

    Progressive Familial Intrahepatic Cholestasis is a rare, severe, and genetically inherited liver disease in which the flow of bile from the liver is blocked even though the bile ducts are open. Bil...

  • Progressive Multifocal Leucoencephalopathy

    1 members

    Progressive Multifocal Leucoencephalopathy is a disease of the brain's white matter.

  • Progressive Supranuclear Palsy

    9 members

    Progressive Supranuclear Palsy is a rare degenerative disorder involving the gradual deterioration and death of selected areas of the brain.

  • Propionic Acidemia

    1 members

    Propionic Acidemia is a rare autosomal recessive metabolic disorder characterized by deficiency of propionyl CoA carboxylase.

  • Proximal Myotonic Myopathy

    members

  • Prune Belly Syndrome

    1 members

    Prune belly syndrome is a rare birth defect of the urinary system, characterized by a triad of symptoms.

  • Prurigo nodularis

    8 members

    Prurigo nodularis is a skin disease characterized by itchy lumps, which usually appear on the arms or legs.

  • Pseudohypoaldosteronism

    13 members

    Pseudohypoaldosteronism refers to a heterogeneous group of disorders of electrolyte metabolism characterized by an apparent state of renal tubular unresponsiveness or resistance to the action of al...

  • Pseudotumor Cerebri

    14 members

    Pseudotumor Cerebri is a condition in which there is increased pressure of the cerebrospinal fluid, leading most commonly to headaches.

  • Pseudoxanthoma Elasticum

    5 members

    Pseudoxanthoma Elasticum is a rare genetic disease characterized by the fragmentation and mineralization of elastic fibers in some tissues.

  • Psoriasis

    16 members

    Psoriasis is a disease which causes red scaly patches to appear on the skin.

  • Psoriatic Arthritis

    3 members

    Psoriatic Arthritis is a type of inflammatory arthritis affects around10-15% of people suffering from psoriasis.

  • Pterygium

    1 members

    Pterygium is a rare medical disorder characterized by a benign, elevated, superficial, external ocular mass that usually forms over the perilimbal conjunctiva and extends onto the corneal surface.*

  • Pulmonary Alveolar Microlithiasis

    2 members

    Pulmonary Alveolar Microlithiasis is a rare disorder characterized by the deposition of calcium phosphate microliths in the lungs.

  • Pulmonary Alveolar Proteinosis

    members

    Pulmonary Alveolar Proteinosis is a rare lung disorder characterized with abnormal accumulation of surfactant in the alveoli.

  • Pulmonary Arterial Hypertension

    9 members

    Pulmonary Arterial Hypertension is consistantly high blood pressure in the pulmonary artery.

  • Pulmonary Valve Stenosis

    1 members

    Pulmonary Valve Stenosis is a rare valvular heart disorder.

  • Pure Autonomic Failure

    7 members

    Pure Autonomic Failure is a rare disorder involving the malfunction of the autonomic nervous system.

  • Pyoderma Gangrenosum

    13 members

    Pyoderma Gangrenosum is a rare ulcerative cutaneous disorder that causes tissue to become necrotic.

  • Pyruvate Kinase Deficiency

    3 members