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Communities

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  • 12q Chromosome Deletion

    51 members

    12q Chromosome Deletion is a rare disorder characterized by the deletion of chromosome 12q.

  • 13q Deletion Syndrome

    52 members

    13q Deletion Syndrome is a rare chromosomal disorder caused by the deletion of the long arm of the 13th chromosome.

  • 14q21.3 Deletion

    1 members

    Community for people dealing with Chromosome 14q21.3 deletion

  • 15q 26.2 Deletion

    203 members

    15q 26.2 Deletion is a rare chromosomal disorder that is characterized by a microdeletion on part of the long arm of chromosome 15. Global developmental delay is present, as well as short stature.

  • 16p13.11 Duplication Syndrome

    22 members

    16p13.11 Duplication Syndrome is a rare disorder characterized by behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.

  • 17-Beta-Hydroxysteroid Dehydrogenase Deficiency

    3 members

    17-Beta-Hydroxysteroid Dehydrogenase Deficiency is a rare sexual development disorder affecting testosterone synthesis.

  • 18P Syndrome

    9 members

    18P Syndrome is a partial deletion of the small arm of the # 18 chromosome. Children with this disorder are generally very small in stature and will have some level of learning disabilities. There ...

  • 1q21.1 Deletion Syndrome

    10 members

    1q21.1 Deletion Syndrome is a rare genetic disorder in which part of chromosome 1q21.1 is not complete.

  • 22q11.2 Deletion Syndrome

    26 members

    22q11.2 Deletion Syndrome is a genetic disorder caused by the deletion of a small segment of the long arm of chromosome 22.

  • 22q13 Deletion Syndrome

    8 members

    22q13 Deletion Syndrome is a rare genetic disorder caused by the deletion of the location q13.3 on chromosome 22.

  • 3p25 Deletion Syndrome

    15 members

    3p25 Deletion Syndrome is a rare chromosomal disorder characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia.

  • 3q23 duplication - COPB2 Gene

    1 members

  • 48,XXYY Syndrome

    3 members

    48,XXYY syndrome is a rare genetic condition caused by a chromosome aneuploidy.

     

  • 4q33 Deletion

    41 members

    4q33 Deletion a rare disorder caused by a partial deletion of chromosome 4.

  • Aagenaes Syndrome

    4 members

  • Aarskog-Scott Syndrome

    1 members

    Aarskog-Scott Syndrome is a rare genetic disease characterized by short stature, facial abnormalities, skeletal, and genital anomalies.

     

  • Aase Syndrome

    6 members

    Aase Syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities.

  • Abetalipoproteinemia

    4 members

    Abetalipoproteinemia is a rare disorder causing interference with the normal absorption of fat and fat-soluble vitamins from food.

  • Absent Pulmonary Valve Syndrome

    4 members

    Absent Pulmonary Valve Syndrome is a rare congenital defect in which the pulmonary valve is either missing or poorly formed.

  • Acalvaria

    4 members

    Acalvaria is a rare malformation characterized by the absence of the calvarial bones, dura mater and associated muscles in the presence of a normal skull base and normal facial bones.

  • Acanthamoeba Keratitis

    28 members

    Acanthamoeba Keratitis is a rare eye infection resulting from an amoeba that is most commonly associated with incorrect contact lens handling and exposure to unsanitary conditions.

  • Acatalasemia

    1 members

    Acatalasemia a genetic deficiency of erythrocyte catalase characterized by infection of the gums.

  • Aceruloplasminemia

    2 members

    Aceruloplasminemia is a rare iron metabolism disorder characterized by progressive neurodegeneration of the retina and basal ganglia, and diabetes mellitus.

  • Achalasia

    18 members

    Achalasia is a rare disorder affecting the lower esophageal sphincter characterized by difficulty in swallowing (dysphagia) and regurgitation of undigested food.

  • Acheiropodia

    members

  • Achondroplasia

    8 members

  • Ackerman Syndrome

    1 members

  • Acoustic Neuroma

    5 members

    Acoustic neuroma is a benign tumor that forms on the vestibulocochlear nerve leading from the brain to the inner ear.

  • Acquired Hemophilia

    2 members

  • Acrodermatitis Enteropathica

    members

  • Acrodysostosis

    4 members

    Acrodysostosis is a rare congenital disorder characterized by problems in the bones of the hands, feet, and nose, and mental retardation.

  • Acrofacial Dysostosis, Rodriguez Type

    3 members

    Acrofacial Dysostosis is a group of disorders characterized by defective limb and facial development.

  • Acromegaly

    22 members

    Acromegaly is a rare disorder that results when the pituitary gland produces excess growth hormone after epiphyseal plate closure.

     

  • Acute Disseminated Encephalomyelitis

    9 members

    Acute Disseminated Encephalomyelitis is an immune disorder of the brain typically occuring after a viral infection.

  • Acute Hepatic Porphyria

    12 members

    Acute Hepatic Porphyria is a rare form of Porphyria characterized by an enzyme deficiency in the liver.

  • Acute Interstitial Pneumonia

    1 members

    Acute Interstitial Pneumonia is a rare lung disease which usually affects otherwise healthy individuals.

     

     

  • Acute Lymphoblastic Leukemia

    5 members

    Acute Lymphoblastic Leukemia is a form of cancer of the white blood cells in which malignant, immature white blood cells continuously multiply and are overproduced in the bone marrow.

     

  • Acute Myelogenous Leukemia

    1 members

    Acute Myelogenous Leukemia is a stem cell cancer that effects the bone marrow or can manifest in the skin as lukemia cutis or in the brain. But is mainly a sistemic disease of the blood system and ...

  • Acute Promyelocytic Leukemia

    4 members

    Acute Promyelocytic Leukemia is a subtype of acute myelogenous leukemia, a cancer of the blood and bone marrow.

     

  • Acute Respiratory Distress Syndrome

    4 members

  • Acute Retinal Necrosis

    2 members

    Acute Retinal Necrosis is a rare type of inflammation of the retina in the eye.

  • Acute Zonal Occult Outer Retinopathy

    2 members

    Acute Zonal Occult Outer Retinopathy is a rare eye disorder in which the retina becomes inflamed, resulting in loss of vision which is typically temporary, lasting several years.

  • Adactylia Unilateral Dominant

    members

    Adactylia Unilateral Dominant is a rare genetic condition characterized by missing portions of fingers.

  • Adams-Oliver Syndrome

    1 members

    Adams-Oliver Syndrome is a rare disorder resulting in defects of the scalp and cranium as well as with limb malformations.

  • Addison's Disease

    51 members

    Addison's Disease is a rare endocrine disorder in which the adrenal gland produces insufficient amounts of steroid hormones.

  • Adenine Phosphoribosyltransferase Deficiency

    3 members

    Adenine Phosphoribosyltransferase Deficiency is a rare genetic disorder that may cause kidney stones and possibly kidney failure.

  • Adenoid Cystic Cancer

    2 members

    Adenoid Cystic Cancer is a rare form of cancer that can exist in many different areas of the body.

  • Adie Syndrome

    1 members

    Adie Syndrome is a neurological disorder which affects the pupil of the eye and the autonomic nervous system.

  • Adiposis Dolorosa

    16 members

    Adiposis Dolorosa is a rare disorder causing painful lipomas.

  • Adrenocortical Carcinoma

    3 members

    Adrenocortical carcinoma is a rare form of cancer originating in the cortex of the adrenal gland.

  • Adrenoleukodystrophy

    67 members

    Adrenoleukodystrophy is a rare disease characterized by progressive brain damage and failure of the adrenal glands.

  • Adrenomyeloneuropathy

    292 members

    Adrenomyeloneuropathy (AMN) is a rare inherited metabolic disorder that affects approximately 30,000 people worldwide.

  • Adult Onset Still's Disease

    5 members

    Adult Onset Still's Disease is a rare form of rheumatoid arthritis that occurs in adults and attacks internal organs, joints and other parts of the body.

  • Aicardi Syndrome

    3 members

    Aicardi Syndrome is a rare genetic syndrome characterized by the partial or complete absence of the corpus callosum (the corpus callosum is the part of the brain which allows the right side to comm...

  • Alagille syndrome

    3 members

    Alagille syndrome is a genetic disorder that affects the liver, heart, and other systems of the body.

  • Albright Hereditary Osteodystrophy

    48 members

    Albright Hereditary Osteodystrophy is a form of osteodystrophy.

    Albright’s hereditary osteodystrophy consists of a constellation of features including a form of osteodystrophy,[1...

  • Alexander Disease

    7 members

    Alexander Disease is an often fatal nervous system disorder that primarily occurs in infants and children.

  • Alkaptonuria

    4 members

    Alkaptonuria is a rare genetic metabolic disease, characterized by the accumulation of acid in various tissues. Those affected by the disease do not have an enzyme that can break down homogentis...

  • Alopecia Totalis

    7 members

    Alopecia Totalis is a rare autoimmune disorder characterized by the loss of all head hair.

  • Alpers Syndrome

    4 members

    Alpers Syndrome is a rare degenerative disease affecting the central nervous system that occurs primarily in infants and children.

  • Alpha-1 Antitrypsin Deficiency

    12 members

    Alpha-1 Antitrypsin Deficiency is a rare genetic disorder caused by damaged alpha 1-antitrypsin proteins whose purpose is to keep neutrophil elastase enzymes in check.

  • Alpha-Mannosidosis

    2 members

    Alpha-Mannosidosis is a lysosomal storage disorder caused by deficient activity of the alpha-D-mannosidase enzyme.

  • Alpha-Sarcoglycanopathy

    members

    Alpha-Sarcoglycanopathy is rare genetic disorder involving progressive muscle weakness of the pelvic and shoulder muscles.

  • Alport syndrome

    3 members

    Alport syndrome (AS) is a kidney disease that progresses from kidney insufficiency to kidney failure. Genetically, AS can be X-linked, autosomal dominant, or autosomal recessive. Although AS can be...

  • Alström Syndrome

    1 members

    Alstrom Syndrome is a very rare recessive disorder causing childhood blindness, hearing loss, obesity, heart failure, kidney failure, diabetes and many related disorders.

  • Ameloblastoma

    5 members

    Ameloblastoma is a rare, benign tumor of the mouth.

  • Amelogenesis Imperfecta, Nephrocalcinosis

    8 members

    Amelogenesis Imperfecta, Nephrocalcinosis, is an enamel-renal disorder, where one develops abnormal formation of teeth enamel and also nephrocalcinosis.

     

  • Amniotic Band Syndrome

    3 members

  • Amyloidosis

    10 members

    Amyloidosis is a rare bone marrow disease characterized by the buildup of amyloid proteins in the organs.

  • Amyotrophic Lateral Sclerosis

    11 members

    Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease caused by the degeneration of motor neurons.

  • Anaplastic Thyroid Carcinoma

    3 members

    Anaplastic Thyroid Cancer is a form of thyroid cancer.

  • Andersen Tawil Syndrome

    12 members

    Andersen Tawil Syndrome is a type of Periodic Paralysis that presents with episodic weakness including paralysis and cardiac abnormalities which can include Long QTS 7 in some, but not all patients.

  • Androgen Insensitivity Syndrome

    5 members

    Androgen Insensitivity Syndrome is a rare genetic disorder caused by mutations of the gene encoding the androgen receptor.

  • Anencephaly

    members

    Anencephaly is a rare disorder caused by the neural tube failing to close resulting in the absence of a major portion of the brain, skull, and scalp.

  • Angelman Syndrome

    10 members

    Angelman syndrome is a genetic disorder caused by deletion of genes on chromosome 15 and is typically characterized by developmental delay, sleep disturbance, seizures, jerky movements, and frequen...

  • Angioedema

    18 members

    Angioedema is a rare disorder characterized by rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.

  • Angiomyomatous Hamartoma

    2 members

    Angiomyomatous Hamartoma is a rare type of tumor occurring in lymph nodes in the inguinal area of the body.

  • Angiosarcoma

    members

    Angiosarcoma is a rare sarcoma of vascular tissue.

  • Aniridia

    2 members

    Aniridia is a rare disorder characterized by the underdevelopment of the iris.

  • Ankylosing Spondylitis

    16 members

    Ankylosing Spondylitis is a chronic, painful, degenerative inflammatory arthritis primarily affecting spine and sacroiliac joints.

  • Anophthalmia - Microphthalmia, Isolated

    4 members

    Isolated Anophthalmia/Microphthalmia is a rare disorder characterized by the absence of an eye and the presence of a small eye within the orbit.

  • Anorchism

    2 members

    Anorchism is a rare condition resulting in the absence of the testes.

  • Anti-MAG Peripheral Neuropathy

    3 members

    Anti-MAG Peripheral Neuropathy is a rare disorder in which a person’s own immune system attacks cells that maintain a healthy nervous system.

  • Antiphospholipid Syndrome

    10 members

    Antiphospholipid Syndrome is a rare immunological disorder disorder characterized by thrombosis (blood clots) in both arteries and veins.

  • Antisynthetase Syndrome

    164 members

    Antisynthetase Syndrome is a rare, chronic, autoimmune disorder.

  • Aortic Valve Stenosis

    2 members

    Aortic Valve Stenosis is a heart disorder caused by the incomplete opening of the aortic valve.

  • Aortoiliac Occlusive Disease

    2 members

    Aortoiliac Occlusive Disease is a rare disorder resulting from blockage in the terminal aorta which supplies blood to the lower part of the body.

  • Apert Syndrome

    1 members

    Apert Syndrome is a congenital disorder affecting the first branchial arch.

  • Aplastic Anemia

    7 members

    Aplastic Anemia is a disorder where the bone marrow does not produce sufficient blood cells.

  • Appendix Cancer

    4 members

    Appendix Cancer is a rare form of cancer with the most common types being carcinoid tumor and adenocarcinoma.

  • Aquagenic Pruritus

    8 members

    Aquagenic Pruritus is a rare skin disorder characterized by intense itching after contact with water.

  • Arachnoid Cyst

    5 members

    Arachnoid Cysts are fluid-filled sacs that are located between the brain or spinal cord and the arachnoid membrane.

  • Arachnoiditis

    10 members

    Arachnoiditis is a rare neuropathic disease caused by the inflammation of one of the membranes that surrounds the nerves of the central nervous system.

     

  • Arnold-Chiari Malformation

    31 members

    Arnold-Chiari malformation is a malformation of the brain which consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum.

     

  • Arrhythmogenic right ventricular dysplasia

    2 members

    Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle

  • Arteriovenous Malformation

    10 members

    Arteriovenous Malformation is a disorder that affects the connections between veins and arteries disallowing the delivery of nutrients to tissue.

  • Arthritis-Related Enthesitis

    12 members

    Arthritis-Related Enthesitis is inflammation of the site at which the tendon or ligament attaches to the bone due to arthritis.

  • Arthrogryposis Multiplex Congenita

    7 members

    Arthrogryposis Multiplex Congenita is a rare, non-progressive, congenital disorder characterized by multiple joint contractures, including muscle weakness and fibrosis.

  • Askin's Tumor

    12 members

    Askin's Tumor is a rare type of cancer characterized by the development of tumors in bone or soft tissue.

  • Aspartylglucosaminuria

    3 members

    Aspartylglucosaminuria is a rare lysosomal storage disorder caused by an enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) deficiency.

  • Asperger Syndrome

    9 members

    Asperger Syndrome is characterized by difficulties in social interaction and restricted patterns of behavior and interests.

  • Associative Agnosia

    2 members

    Associative Agnosia is a rare disorder characterized by the loss of the ability to assign meaning to an object, animal or building that the patient can see clearly.

  • Ataxia Telangiectasia

    7 members

    Ataxia Telangiectasia is a rare, neurodegenerative, inherited disorder characterized by poor coordination and small dilated blood vessels.

  • Atrial Fibrillation

    6 members

    Atrial Fibrillation is an abnormal heart rhythm involving the two upper chambers of the heart.

  • Atypical Odontalgia

    8 members

    Atypical Odontalgia is a rare dental disorder characterized by a continuous severe aching tooth, usually occurring in a molar or in a tooth next to a molar.

  • Autism

    25 members

    Autism is a brain development disorder that impairs social interaction and communication, and causes restricted and repetitive behavior, all starting before a child is three years old

  • Autoimmune Hypophysitis

    4 members

    Autoimmune hypophysitis is a rare disorder causing inflammation of the pituitary gland.

  • Autoimmune Polyendocrine Syndrome, Type 2

    7 members

    Autoimmune Polyendocrine Syndrome, Type 2 is a rare autoimmune disorder characterized by Addison's disease, hypothyroidism and diabetes mellitus.

  • Autoimmune Polyendocrinopathy Syndrome Type 1

    5 members

    Autoimmune Polyendocrinopathy Syndrome Type 1 is a rare autoimmune disorder characterized by autoimmune polyendocrinopathy, candidiasis and ectodermal dysplasia.

  • Autoimmune Progesterone Dermatitis

    13 members

    Autoimmune Progesterone Dermatitis is a rare skin rash that affected women.

  • Autosomal Recessive Cerebellar Ataxia Type 1

    1 members

    Autosomal Recessive Cerebellar Ataxia Type 1 is a rare, progressive neurological disorder primarily affecting individual from Quebec, Canada.

  • Autosomal Recessive Polycystic Kidney Disease

    4 members

  • Avascular Necrosis

    5 members

    Avascular Necrosis is a disorder caused by the loss of the blood supply to an area of bone.

  • Axenfeld-Rieger Syndrome

    22 members

    Axenfeld-Rieger Syndrome is a rare disorder of the eyes and teeth.

  • Baller Gerold Syndrome

    2 members

    Baller Gerold Syndrome is a rare disorder characterized by abnormalities of certain skull bones and of bones in the arms and hands.

  • Bangstad Syndrome

    1 members

    Bangstad syndrome is an inherited congenital disorder associated with abnormalities of the cell membrane.

  • Bannayan Riley Ruvalcaba Syndrome

    3 members

    Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.

  • Banti's Syndrome

    members

    Banti's Syndrome is a chronic congestive enlargement of the spleen.

  • Bardet-Biedl Syndrome

    5 members

    Bardet-Biedl Syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems.

  • Bare Lymphocyte Syndrome

    members

    Bare Lymphocyte Syndrome is a form of severe combined immunodeficiency caused by deficiencies in major histocompatibility.

  • Baroreflex Failure

    3 members

    Baroreflex Failure is a disorder characterized by change of blood pressure with episodes of severe hypertension.

  • Barre-Lieou Syndrome

    2 members

    Barre-Lieou Syndrome is a rare disorder characterized by trauma or arthritic changes involving the third and fourth cervical vertebrae or cervical disk lesions with provocation of the cranial nuclei.

  • Barrett's Esophagus

    3 members

    Barrett's Esophagus is an abnormal change in the cells of the esophagus caused by stomach acid.

  • Bartter Syndrome

    3 members

    Bartter Syndrome is a rare genetic disordercharacterized by low potassium levels and decreased acidity of blood.

    Expanded Description: 

    Bartter syndrome is a gene...

  • Batten Disease

    2 members

    Batten disease is a rare autosomal recessive neurodegenerative disorder beginning in childhood.

  • Bazex–Dupré–Christol Syndrome

    1 members

    Bazex–Dupré–Christol Syndrome is a disease of the hair follicle, exhibiting milia, and basal cell cancer during the second decade.

  • Beals-Hecht Syndrome

    8 members

    Beals-Hecht Syndrome is a genetic disorder similar to Marfan's Syndrome that affects connective tissue.

     

  • Beckwith-Wiedemann Syndrome

    8 members

    Beckwith-Wiedemann Syndrome is a congenial disorder characterized by an increased risk of childhood cancer and certain features including a large tongue, abdominal wall defects and low blood sugar.

  • Behcet's Disease

    14 members

    Behcet's Disease is a rare disorder characterized by chronic inflammation in blood vessels throughout the body.

  • Behr's Syndrome

    2 members

    Behr's Syndrome is a rare genetic disorder characterized by partial and increasing loss of vision.

  • Benign Osteopetrosis

    2 members

    Osteopetrosis is a rare inherited disorder in which the bones harden.

  • Bent Spine Syndrome

    1 members

    Bent Spine Syndrome is the abnormal bending of the back.

  • Best Disease

    5 members

    Best Disease is a rare genetic eye disease affecting the retina, causing progressive vision loss.

  • Bilateral Choroid Plexus Cysts

    1 members

    Bilateral Choroid Plexus Cysts are cysts that occur on both sides of the choroid plexus within the brain.

  • Bilateral Diaphragmatic Paralysis

    7 members

    Bilateral Diaphragmatic Paralysis is a rare condition characterized by profound abnormalities of pulmonary and respiratory muscle function.

  • Bilateral Renal Agenesis

    2 members

    Bilateral Renal Agenesis is a rare genetic disorder characterized by the absence of both kidneys at birth.

  • Bilateral Vestibular Paresis

    1 members

    Bilateral Vestibular Paresis results from a loss of the connection of the semicircular canals to the brain resulting in a loss of balance.

  • Biotinidase Deficiency

    2 members

    Biotinidase deficiency is a genetic disorder in which the body is not able to process biotin properly.

  • Birdshot Chorioretinopathy

    133 members

    Birdshot Chorioretinopathy is a rare inflammatory ocular disorder characterized by severe inflammation of both the choroid and retina. The disorder is thought to be an autoimmune condition.

  • Birt-Hogg-Dube Syndrome

    11 members

    Birt-Hogg-Dube syndrome (BHD) is a rare inherited disorder that affects the skin and increases the risk of pneumothorax and kidney tumors.

  • Bladder Exstrophy

    10 members

    Bladder Exstrophy is a rare congenital disorder characterized by a variety of anomalies of the lower abdominal wall, bladder, anterior bony pelvis, and external genitalia.

     

  • Blastic Plasmacytoid Dendritic Cell Neoplasm

    56 members

    A very rare aggressive cancer that usually manifests in skin lesions and infiltrates the lymph system. Usually considered a form of leukemia, it bears resemblances to lymphoma as well. Currently a ...

  • Blau Syndrome

    7 members

    Blau Syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.

  • Blepharophimosis Syndrome

    11 members

    Blepharophimosis Syndrome is a rare disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.

  • Blepharospasm

    5 members

    Blepharospasm is an uncontrolled tic or twitch of the eyelid.

  • Bloom's Syndrome

    1 members

    Bloom's Syndrome is a rare disorder characterized by rearrangements in an affected person's chromosomes.

  • Blount's Disease

    9 members

    Blount's Disease is a growth disorder of the tibia (shin bone) that causes the lower leg to angle inward.

  • Blue Rubber Bleb Nevus Syndrome

    2 members

    Blue Rubber Bleb Nevus Syndrome is a rare disorder characterized by abnormal blood vessels affecting the gastrointestinal tract.

  • Bone Tumor

    2 members

    A bone tumor is an abnormal growth of cells within a bone.

  • Botulism

    1 members

    Botulism is a rare illness caused by the bacterium Clostridium botulinum.

  • Boutonneuse Fever

    members

    Boutonneuse Fever is a fever as a result of a Rickettsia infection caused by the bacterium Rickettsia conorii and transmitted by dog ticks.

  • Brachydactylia

    3 members

    Brachydactylia describes the abnromal shortness of fingers and toes.

  • Branchio-Oto-Renal Syndrome

    4 members

    Branchio-Oto-Renal Syndrome is a rare genetic disorder involving the kidneys, ears, and neck.

  • Brown-Sequard Syndrome

    5 members

    Brown-Sequard Syndrome is a rare disorder characterized by a loss of motor function and sensation caused by the lateral hemisection of the spinal cord.

  • Brown-Vialetto-Van Laere Syndrome

    1 members

    Brown-Vialetto-Van Laere Syndrome is a rare neurological disorder characterized by deafness and paralysis of the muscles of the face, neck, shoulders and limbs.

  • Brucellosis

    members

    Brucellosis is a rare, highly contagious disease caused by ingestion of unsterilized milk or meat from infected animals.

  • Brugada syndrome

    members

    Brugada syndrome is a genetic disease that is characterized by abnormal electrocardiogram findings and an increased risk of sudden cardiac death.

  • Budd-Chiari Syndrome

    7 members

  • Buerger's Disease

    6 members

    Buerger's Disease is a rare disorder characterized by acute inflammation and thrombosis of arteries and veins of the hands and feet.

  • Bullous Pemphigoid

    1 members

    Bullous Pemphigoid is a rare skin disorder characterized by the formation of blisters between the skin layers epidermis and dermis.

  • Burkitt Lymphoma

    1 members

    Burkitt Lymphoma is a rare cancer of the lymphatic system.

  • Burning Mouth Syndrome

    11 members

    Burning Mouth Syndrome is a rare disorder characterized by a burning or tingling sensation on the lips, tongue or mouth.

  • Buschke Ollendorff Syndrome

    4 members

    Buschke Ollendorf Syndrome is a rare hereditary disorder of connective tissue.

  • CADASIL

    8 members

    CADASIL is a rare genetic disorder that is characterized by migraines, headaches, and multiple strokes in adults and young adults, often without cardiovascular risk factors. CADASIL is caused by...

  • Campomelic dysplasia

    members

  • Canavan Disease

    5 members

    Canavan Disease is a rare degenerative brain disorder that causes progressive damage to nerve cells in the brain.

  • Candida Glabrata

    3 members

    Candida Glabrata is a rare strain of yeast infection of the vaginal area.

  • CANOMAD Syndrome

    1 members

    CANOMAD Syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.

  • Carbamoyl Phosphate Synthetase Deficiency

    members

    Carbamoyl Phosphate Synthetase Deficiency is a rare genetic disorder that causes ammonia to accumulate in the blood.

  • Carcinoid Tumors

    8 members

    Carcinoid tumors are slow-growing cancers that usually start in the lining of the digestive tract or in the lungs and can sometimes produce excessive amounts of hormonelike substances, resulting in...

  • Carney Complex

    7 members

    Carney Complex is a hereditary cancer syndrome characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, and endocrine gland tu...

  • Carnitine-Acylcarnitine Translocase Deficiency

    2 members

    Carnitine-Acylcarnitine Translocase Deficiency is a rare genetic disorder that prevents the body from converting long-chain fatty acids into energy.

     

  • Caroli Disease

    members

    Caroli Disease is a rare genetic disorder characterized by dilatation of the bile ducts.

  • Carotid-Cavernous Fistula

    1 members

    Carotid-Cavernous Fistula is an abnormal connection between the arterial and venous systems within the cavernous sinus.

  • Castleman's Disease

    9 members

    Castleman's Disease is a rare disorder characterized by non-cancerous tumors that may develop in the lymph node tissue at a single site or throughout the body.

  • Cat-Eye Syndrome

    1 members

  • Cat-Scratch Disease

    3 members

    Cat-Scratch Disease is a bacterial disease caused by the intracellular bacterium Bartonella.

  • Catamenial Pneumothorax

    1 members

    Catamenial pneumothorax is a rare condition characterized by the collapse of a lung occurring in conjunction with menstrual periods.

  • Cavernous Angioma

    7 members

    Cavernous Angioma is a vascular disorder of the central nervous system.

  • Central Areolar Choroidal Dystrophy

    1 members

  • Central Diabetes Insipidus

    2 members

    Central Diabetes Insipidus results from damage to the hypothalamus or pituitary resulting in the feeling of thirst.

     

  • Cerebrotendineous Xanthomatosis

    members

    Cerebrotendineous Xanthomatosis is a rare genetic disorder associated with the deposition of cholesterol in the brain and other tissues.

  • Cervical Cancer

    7 members

    Cervical Cancer is a malignant cancer of the cervix, uteri or cervical area.

  • Char Syndrome

    members

  • Charcot-Marie-Tooth Disease

    11 members

    Charcot-Marie-Tooth disease is an inherited neurological disorder.

  • CHARGE Syndrome

    1 members

    CHARGE Syndrome is a rare genetic disorder characterized by: Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnor...

  • Chediak-Higashi Syndrome

    2 members

    Chediak-Higashi Syndrome is a rare autosomal recessive disorder caused by a mutation in the lysosomal trafficking regulator gene (LYST).

  • Cherubism

    2 members

    Cherubism is a rare painless condition involving the bones of the face. The solid bone in the lower part of the skull and jaw (maxilla and mandible) is replaced by fibrous tissue that is less dense...

  • Cholangiocarcinoma

    3 members

    Cholangiocarcinoma is cancer of the bile ducts, which transfer bile from the liver to the small intestines.

  • Chondroectodermal Dysplasia

    1 members

    Chondroectodermal Dysplasia is a rare genetic skeletal disorder.

     

     

  • Chordoma

    2 members

    Chordoma is a rare tumor thought to arise from cellular remnants of the notochord.

  • Choroid Plexus Carcinoma

    1 members

    Choroid Plexus Carcinoma is the malignant form of a choroid plexus tumor which accounts for 10-20 percent of all choroid plexus tumors.

  • Choroideremia

    members

    Choroideremia is a rare inherited eye disorder that causes progressive vision loss due to degeneration of the choroid and retina.

  • Christ-Siemens-Touraine Syndrome

    1 members

    Christ-Siemens-Touraine Syndrome is a rare inherited disorder characterized by the absence of sweat and sebaceous glands, underdeveloped hair and teeth, characteristic face and other physical defor...

  • Chromosome 10q Deletion Syndrome

    4 members

  • Chromosome 14 Deletion

    26 members

    Chromosome 14 Deletion is a rare chromosomal disorder.

  • Chromosome 15q11.2 Deletion

    9 members

    Chromosome 15q11.2 Deletion is a rare genetic disorder.

  • Chromosome 18q Deletion Syndrome

    3 members

  • Chromosome 1p13.3 Microdeletion

    8 members

  • Chromosome 1p36 Deletion Syndrome

    3 members

    Chromosome 1p36 Deletion Syndrome is a rare genetic disorder caused by the genetic deletion on the outermost band on the short arm of chromosome 1.

  • Chromosome 1q Duplication

    2 members

    Chromosome 1q Duplication is a rare chromosomal disorder resulting in small stature, growth defiency, global delays, behavior issues, chronic pneumonia, chronic ear infections and hearing loss.

  • Chromosome 1q21.1 Duplication

    31 members

    Chromosome 1q21.1 Duplication is a rare genetic abnormality that involves microduplication in the q21.1 area of chromosome 1. It has varying clinical presentations with children having anything fro...

  • Chromosome 1q42.3 Deletion

    1 members

  • Chromosome 22 Ring

    5 members

    Chromosome 22 Ring is a rare disorder characterized by abnormalities of chromosome 22.

  • Chromosome 3 Duplication

    2 members

  • Chromosome 3p26.3 Deletion

    11 members

  • Chromosome 4q Deletion Syndrome

    190 members

    Chromosome 4q Deletion Syndrome is a rare chromosomal disorder in which there is deletion of a portion of the 4th chromosome.

  • Chromosome 5p Duplication Syndrome

    17 members

    Chromosome 5p duplication syndrome is a disorder characterized by the duplication of all or part of chromosome 5.

  • Chromosome 5q Deletion Syndrome

    12 members

    Chromosome 5q deletion syndrome is a rare disorder caused by loss of part of the long arm of chromosome 5.

     

     

  • Chromosome 6q Deletion Syndrome

    9 members

    Chromosome 6q Deletion Syndrome is a rare chromosomal disorder resulting from the deletion of a part of the long arm (q) of chromosome 6.

  • Chromosome 9q Duplication

    7 members

    Chromosome 9q Duplication is a rare genetic disorder resulting in variable motor skills, growth and mental retardation issues.

     

  • Chromosome Y deletion

    1 members

    A family of genetic disorders caused by missing genes in the Y chromosome.

  • Chronic Autoimmune Hepatitis

    4 members

    Chronic Autoimmune Hepatitis is a rare chronic inflammatory liver disease.

  • Chronic granulomatous disease

    7 members

    Chronic granulomatous disease is a rare group of hereditary diseases characterized by the inability to resist infectious diseases.

  • Chronic Inflammatory Demyelinating Polyneuropathy

    18 members

    Chronic Inflammatory Demyelinating Polyneuropathy is a rare immune-mediated inflammatory disorder of the peripheral nervous system.

  • Chronic Lyme Disease

    8 members

    Chronic Lyme Disease occurs in patients who have completed a course of antibiotic treatment for Lyme Disease, yet continue to have symptoms such as severe fatigue, sleep disturbance, and cognitive ...

  • Chronic Lymphocytic Leukemia

    9 members

    Chronic Lymphocytic Leukemia (CLL) is a cancer of the lymphocytes, which are a type of white blood cells. It is a blood disorder in which there is an increased number of white blood cells in lympho...

  • Chronic Migraine

    6 members

    Chronic Migraines are the occurance of migraines on a consistant or daily basis.

  • Chronic Myelogenous Leukemia

    4 members

    Chronic Myelogenous Leukemia is a form of leukemia characterized by the unregulated growth of myeloid cells in the bone marrow.

  • Chronic Myelomonocytic Leukemia

    2 members

    Chronic Myelomonocytic Leukemia is a form of leukemia characterized by an elevated level of circulating monocytes.

  • Chronic Obstructive Pulmonary Disease

    9 members

    Chronic Obstructive Pulmonary Disease is a disorder making it difficult to breath.

  • Churg-Strauss Syndrome

    6 members

    Churg-Strauss Syndrome is a rare medium and small vessel autoimmune vasculitis, leading to necrosis.

  • Citrullinemia

    4 members

    Citrullinemia is a rare disorder characterized by the accumulation of ammonia and other toxic substances in the blood.

  • Clostridium Difficile

    3 members

    Clostridium Difficile is a bacteria causing severe infection of the colon.

  • Clouston Syndrome

    3 members

    Clouston Syndrome is a rare genetic disorder characterized by dystrophy of nails, alopecia,and palmoplantar hyperkeratosis.

  • Coats Disease

    8 members

    Coats Disease is a rare eye disorder characterized by weak blood vessels behind the retina leading to full or partial blindness.

  • Cockayne Syndrome

    1 members

    Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, photosensitivity, and premature aging.

  • Coeliac Disease

    10 members

    Coeliac Disease is an autoimmune disorder of the small intestine that is caused by a reaction to wheat proteins.

  • Coffin-Lowry Syndrome

    2 members

    Coffin-Lowry Syndrome is a rare genetic disorder caused by mutations in the RPS6KA3 gene and characterized by head, facial and skeletal abnormalities and mental retardation.

  • Cogan Syndrome

    6 members

    Cogan Syndrome is a rare disorder characterized by recurrent inflammation of the eye and sometimes fever, fatigue, and weight loss, episodes of dizziness, and hearing loss.

  • Cohen Syndrome

    4 members

    Cohen Syndrome is believed to be a gene mutation at locus 8q22 gene COH1 and is characterized by obesity, mental retardation and craniofacial dysmorphism.

  • Cold Agglutinin Disease

    13 members

    Cold Agglutinin Disease is an autoimmune disorder yeilding the high presence of circulating antibodies directed against red blood cells.

  • Collagenous Colitis

    7 members

    Collagenous Colitis is a rare inflammatory colonic disease.

  • Combined Malonic and Methylmalonic Aciduria

    2 members

    Combined Malonic and Methylmalonic Aciduria is a rare condition characterized by increased acids in

     

    the blood and urine formed from the breakdown of protein.

  • Common Variable Immunodeficiency

    235 members

  • Complex Regional Pain Syndrome

    20 members

    Complex Regional Pain Syndrome is a chronic progressive disease characterized by severe pain, swelling and changes in the skin. CRPS results from dysfunction in the nervous system.

  • Cone-Rod Dystrophy

    6 members

    Cone-Rod Dystrophy is an inherited disorder characterized by the loss of cone cells, which are responsible for both central and color vision.

  • Congenital Adrenal Hyperplasia

    17 members

    Congenital Adrenal Hyperplasia is a genetic defect of the adrenal glands.

  • Congenital Amegakaryocytic Thrombocytopenia

    7 members

    Congenital amegakaryocytic thrombocytopenia is a rare disorder characterized by a low number of platelets in the blood.

  • Congenital Anosmia

    6 members

    Congenital Anosmia is the absence of the ability to smell.

  • Congenital Bilateral Perisylvian Syndrome

    4 members

    Congenital Bilateral Perisylvian Syndrome is a rare neurological disorder characterized by partial paralysis of facial muscles and/or epilepsy.

     

  • Congenital Cataract

    6 members

    Congenital cataracts are the opacification of the ocular lens starting at birth.

  • Congenital Chloride Diarrhea

    3 members

    Congenital Chloride Diarrhea is a rare genetic caused by a mutation on gene SLC26A3. It is a life long diarhhea. Patients need salt substitute NaCl/KCl and gastroenteritis may be serious.

  • Congenital Disorder of Glycosylation

    5 members

    Congenital Disorder of Glycosylation is a group of very rare inherited metabolic disorders.

  • Congenital Dyserythropoietic Anemia

    5 members

    Congenital Dyserythopoietic Anemia is a rare genetic blood disorder.

  • Congenital Factor XIII Deficiency

    2 members

  • Congenital Hyperinsulinism

    2 members

    Congenital Hyperinsulinism is a group of disorders in which excessive insulin secretion causes hypoglycemia.

  • Congenital Hypothyroidism

    11 members

    Congenital Hypothyroidism is a rare thyroid hormone deficiency disorder.

  • Congenital lobar emphysema

    1 members

  • Congenital Muscular Dystrophy

    4 members

    Congenital Muscular Dystrophy is a rare form of Muscular Dystrophy.

  • Congenital Myasthenic Syndromes

    6 members

    Congenital Myasthenic Syndromes aregenetic muscular disorders caused by flaws at the neuromuscular junctions.

  • Congenital Myopathy

    6 members

    Congenital Myopathy is a genetic muscular disorder.

  • Congenital rubella syndrome

    members

  • Congenital Sucrase-Isomaltase Deficiency

    17 members

    Congenital Sucrase-Isomaltase Deficiency is a rare disorder in which sucrase is not produced in the small intestine.

  • Cornelia de Lange syndrome

    5 members

  • Coronary Artery Dissection

    1 members

    Coronary Artery Dissection is a rare disorder in which the coronary artery develops a tear.

  • Corpus Callosum Agenesis Neuronopathy

    6 members

    Corpus Callosum Agenesis Neuronopathy is a rare disorder characterized by a delay in developmental milestones.

  • Corticobasal Degeneration

    14 members

    Corticobasal Degeneration is a rare neurological disease characterized by atrophy of multiple areas of the brain, including the cerebral cortex and basal ganglia.

  • Costrochrondritis

    11 members

    Costochondritis is an inflammation of the cartilage that joins the ribs to the chest bone.

  • Cowden Syndrome

    12 members

    Cowden Syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.

  • Craniopharyngioma

    2 members

    Craniopharyngioma is a type of brain tumor derived from pituitary gland embryonic tissue, that occurs most commonly in children but also in men and women in their 50s and 60s.

  • Creutzfeldt-Jakob Disease

    3 members

    Creutzfeldt-Jakob Disease is a rare, degenerative brain disorder.

  • Cri du Chat Syndrome

    6 members

    Cri du Chat Syndrome is a rare genetic disorder due to a missing portion of the short arm on chromosome 5.

  • Crigler-Najjar Syndrome

    3 members

    Crigler-Najjar Syndrome is a rare disorder affecting the metabolism of bilirubin.

  • Crohn's Disease

    27 members

    Crohn's Disease is a chronic inflammatory bowel disease.

  • Crouzon Syndrome

    1 members

    Crouzon Syndrome is a genetic disorder which affects the first branchial arch.

  • Cryptogenic Organizing Pneumonia

    7 members

    Cryptogenic Organizing Pneumonia is a rare disorder characterized by inflammation of the bronchioles and surrounding lung tissue.

  • Currarino Syndrome

    2 members

    Currarino Syndrome is a rare genetic disorder characterized by a malformed sacrum, a mass in the presacral space in front of the sacrum, and malformations of the anus or rectum.

  • Cushing's Syndrome

    20 members

    Cushing’s syndrome is a hormonal disorder. It occurs from extended exposure of the body to high levels of cortisol. Most commonly, this is caused by oral corticosteroid medicine. Cushing’s syndrome...

  • Cutaneous Mastocytosis

    6 members

    Cutaneous Mastocytosis is a rare disorder caused by the presence of too many mast cells in the skin.

  • Cutis Verticis Gyrata - Mental Deficit

    1 members

    Patients present with ridges and furrows on top (usually) of the head. Many different observations and related conditions. Only a few include intellectual deficit. For many subjects there is no app...

  • Cyclic Neutropenia

    17 members

    Cyclic Neutropenia is a rare form of neutropenia.

  • Cyclic Vomiting Syndrome

    7 members

    Cyclic Vomiting Syndrome is a rare condition characterized by recurring attacks of intense nausea and vomiting.

  • Cylindromatosis

    5 members

    Cylindromatosis is a disease of autosomal dominant inheritance pattern characterized by the formation of benign tumors, predominantly in the scalp.

  • Cystathioninuria

    1 members

    Cystathioninuria is a rare disorder characterized by excess cystathionine in the urine.

  • Cystic Fibrosis

    8 members

    Cystic Fibrosis is a rare hereditary disease characterized by lung infections caused by the body's production of thick mucus.

  • Cystic Hygroma

    2 members

    A Cystic Hygroma is a rare congenital cyst found near or around major organs usually in the head, neck & chest.

  • Cystinosis

    2 members

    Cystinosis is a rare lysosomal storage disorder condition in which the body accumulates cystine within cells.

  • Cystinuria

    4 members

    Cystinuria is a rare genetic disorder characterized by the formation of cystine stones in the kidneys, ureter, and bladder.

     

     

  • Dandy-Walker Syndrome

    10 members

    Dandy-Walker Syndrome is a rare congenital brain malformation.

  • Danon Disease

    3 members

    Danon disease is a rare lysosomal storage disorder characterized by an X-linked dominant inheritance pattern.

  • Darier's Disease

    53 members

    Darier's Disease is a rare genetic disorder characterized by dark crusty patches on the skin also known as keratotic papules.

     

  • Degos Disease

    3 members

    Degos Disease is a rare disorder that affects the lining of the veins and arteries.

     

     

  • Delta-Sarcoglycanopathy

    members

  • Dent's Disease

    74 members

    Dent's Disease is a rare X-linked recessive inherited condition that affects the kidney and is one of the causes of Fanconi Syndrome.

  • Dentatorubral Pallidoluysian Atrophy

    4 members

    Dentatorubral Pallidoluysian Atrophy is a rare disorder characterized by spinocerebellar degeneration.

  • Dermatitis Herpetiformis

    4 members

    Dermatitis Herpetiformis is a rare chronic blistering skin condition.

  • Dermatofibrosarcoma Protuberans

    6 members

    Dermatofibrosarcoma Protuberans is a rare type of malignant tumor.

  • Dermatomyositis

    43 members

    Dermatomyositis is a rare autoimmune connective tissue disorder related to Polymyositis.

  • Desmin Related Myopathy

    4 members

    Desmin Related Myopathy is a disorder characterized by mutation in the gene for desmin which prevents it from forming protein filaments.

  • Diabetes mellitus type 1

    10 members

    Diabetes mellitus type 1 is an autoimmune disease characterized by the permanent destruction of insulin-producing beta cells of the pancreas.

  • Diabetes Mellitus Type 2

    9 members

    Diabetes Mellitus Type 2 is a metabolic disorder characterized by insulin resistance, insulin deficiency and hyperglycemia.

  • Diamond Blackfan Anemia

    3 members

    Diamond Blackfan Anemia is a rare blood condition where bone marrow produces little or no red blood cells.

  • Diastrophic Dwarfism

    2 members

    Diastrophic Dysplasia is a congenial disorder which affects cartilage and bone development.

  • Diffuse Ideopathic Skeletal Hyperostosis

    4 members

    Diffuse ideopathic skeletal hyperostosis is a form of degenerative arthritis characterized by excessive bone growth along the sides of the vertebrae of the spine.

  • Diffuse Palmoplantar Keratoderma

    5 members

    Diffuse Palmoplantar Keratoderma is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole.

  • Diploid Triploid Mosaicism

    7 members

    Diploid Triploid Mosaicism is a rare chromosomal disorder in which additional chromosomes are found in a portion of cells.

  • Distal Myopathy

    2 members

    Distal Myopathy is a group of rare, slowly progressive, muscle disorders that primarily affect muscles in the lower arms, hands, lower legs and feet.

  • Distal Trisomy 10q

    members

    Distal Trisomy 10q is a rare disorder caused by an extra portion of the long arm on chromosome 10.

  • Donohue Syndrome

    1 members

    Donohue Syndrome is a rare genetic disorder caused by an impaired insulin receptor.

  • Dopa-Responsive Dystonia

    5 members

    Dopamine-Responsive Dystonia is a genetic movement disorder.

  • Double Cortex Syndrome

    40 members

    Double Cortex Syndrome is a rare brain disorder that can cause mental retardation, learning disabilities, cognative disabilities and epilepsy due to an extra layer of nerves developed under the bra...

  • Down Syndrome

    7 members

    Down syndrome is a disorder originating from an additional 21st chromosome.

  • Dravet Syndrome

    17 members

    Dravet Syndrome is a rare epileptic encephalopathy classified in 1989 by the International League Against Epilepsy (ILAE) as a "syndrome undetermined as to whether seizures are focal or generalized...

  • Duane Syndrome

    4 members

    Duane Syndrome is a rare eye movement disorder.

  • Duodenal Cancer

    1 members

    Duodenal Cancer is a rare cancer in the beginning section of the small intestine located between the stomach and the jejunum.

  • Dupuytren's Contracture

    2 members

    Dupuytren's Contracture is a rare condition in which the fingers bend towards the palm and cannot be fully straightened.

  • Dyskeratosis Congenita

    2 members

    Dyskeratosis congenita is a rare congenital disorder resulting in premature aging.

  • Eagle Syndrome

    8 members

    Eagle Syndrome is a rare condition classified by the elongation of the styloid process or calsification of styloid ligaments.

     

    Eagle Syndrome is extremely rare

     

  • Early Onset Parkinson Disease

    2 members

    Early Onset Parkinson Disease is the manifestation of Parkinson Disease before the age of 40.

  • Early Onset Torsion Dystonia

    5 members

    Early Onset Torsion Dystonia is a rare genetic disorder characterized by painful muscle contractions resulting in uncontrollable distortions.

  • Earmold Allergy

    members

    Earmold Allergies is an allergic reaction to the plastic used for hearing aid earmolds.

  • Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome

    8 members

    Ectrodactyly-ectodermal dysplasia-cleft syndrome is a rare disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefting.

  • Ehlers-Danlos Syndrome Type 3

    38 members

    Ehlers-Danlos Syndrome Type 3 is a rare genetic disorder caused by an autosomal dominant mechanism.

  • Ehlers-Danlos Syndrome Type 4

    15 members

    Ehlers-Danlos Syndrome Type 4 is a rare autosomal dominant defect in the type-III collagen synthesis.

  • Ehlers-Danlos Syndrome, Classic Type

    19 members

    Ehlers-Danlos Syndrome, Classic Type, is a rare genetic disorder caused by a defect in collagen synthesis.

  • Emanuel Syndrome

    2 members

    Emanuel Syndrome is a rare disorder caused by the translocation of the 11th and 22nd chromosome.

  • Emery-Dreifuss Muscular Dystrophy

    1 members

    Emery-Dreifuss is a muscle wasting condition. It usually begins in childhood or adolescence. The features, which make it unique and different from other muscular dystrophies, are the early developm...

  • Encephalocele

    4 members

    Encephaloceleis a disorder characterized by protrusions of the brain through openings in the skull.

  • Eosinophilia-Myalgia Syndrome

    1 members

    Eosinophilia-myalgia syndrome is a rare neurological condition that is believed to have been caused by ingestion of poorly produced L-tryptophan supplements.

  • Eosinophilic Disease

    22 members

    Eosinophilic Disease is a digestive system disorder in which elevated amounts of white blood cells are found in the digestive system.

     

     

  • Eosinophilic Fasciitis

    2 members

    Eosinophilic Fasciitis is a rare disorder characterized by peripheral eosinophilia and fasciitis.

  • Epidermolysis Bullosa

    7 members

    Epidermolysis Bullosa is a rare genetic disorder causing blisters in the skin and mucosal membranes.

  • Epidermolytic Hyperkeratosis

    1 members

    Epidermolytic Hyperkeratosis is a rare skin disorder.

  • Episodic Ataxia, Type 2

    5 members

    Episodic Ataxia, Type 2 is a rare genetic disorder characterized by sporadic episodes of severe discoordination caused by mutations in CACNA1A.

  • Erb's Palsy

    1 members

    Erb's Palsy is paralysis of the arm caused by injury to the arm's nerves during birth.

  • Erdheim Chester Disease

    4 members

    Erdheim Chester Disease is a rare form of non-Langerhans-cell histiocytosis.

  • Erythema Elevatum Diutinum

    2 members

    Erythema Elevatum Diutinum is a rare form of vasculitis characterized by red, purple, brown, or yellow papules.

  • Erythromelalgia

    11 members

    Erythromelalgia is a rare disorder in which blood vessels are episodically inflamed.

  • Erythropoietic Protoporphyria

    4 members

    Erythropoietic Protoporphyria is a mild form of porphyria causing photosensitivity.

  • Esophageal Atresia

    1 members

    Esophageal atresia is a birth defect which causes the esophagus to end in a pouch rather than connecting normally to the stomach.

     

     

  • Esophageal Cancer

    2 members

  • Essential Thrombocythemia

    8 members

    Essential Thrombocythemia is a rare chronic blood disorder characterized by the overproduction of platelets.

  • Essential Tremor

    10 members

    Essential Tremor is a progressive neurological disorder characterized by shaking of hands and other parts of the body.

  • Esthesioneuroblastoma

    2 members

    Esthesioneuroblastoma is a rare form of cancer involving nasal cavity which can result in the loss of vision, sight and taste.

  • Evans Syndrome

    7 members

    Evans Syndrome is a rare disorder in which an individual's autoimmune system attack the red blood cells and platelets.

  • Ewing Sarcoma

    3 members

    Ewing Sarcoma is a malignant round-cell tumor of the bone or soft tissue. It commonly occurs in the pelvis, the femur, the humerus, and the ribs.

     

     

  • Exercise-Induced Anaphylaxis

    7 members

    Exercise-Induced Anaphylaxis is an allergic reaction is induced by exercise.

     

     

  • Extramammary Paget's Disease

    17 members

    Extramammary Paget's disease is a non-invasive cancer of the skin in areas rich in apocrine glands such as the genital region.

  • Fabry Disease

    7 members

    Fabry Disease is a rare X-linked recessive lysosomal storage disorder.

  • Facioscapulohumeral Muscular Dystrophy

    2 members

    Facioscapulohumeral Muscular Dystrophy is a form of muscular dystrophy that initially affects the skeletal muscles of the face, scapula and upper arms.

  • Factor II Deficiency

    members

    Factor II Deficiency is a rare blood clotting disorder due to the lack of a prothrombin needed for blood to clot.

  • Factor V Deficiency

    8 members

    Factor V Deficiency is a rare inherited disorder that affects the body's ability to clot the blood.

  • Factor VII deficiency

    3 members

  • Fahr’s Syndrome

    13 members

    Fahr’s Syndrome is a rare, genetic neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.

  • Familial Adenomatous Polyposis

    10 members

    Familial Adenomatous Polyposis is a rare condition in which polyps form in the epithelium of the large intestine.

  • Familial Alzheimer Disease

    2 members

    Familial Alzheimer's disease is a type of Alzheimer's disease caused by a genetic predisposition.

  • Familial Breast Cancer

    3 members

    Familial Breast Cancer can be attributed to 5% of all breast cancer cases. Typically, the genetic mutations are found on the BRCA1 and BRCA2 genes.

  • Familial Cold Autoinflammatory Syndrome

    17 members

    Familial Cold Autoinflammatory Syndrome is a rare inflammatory disorder characterized by fever, rash and arthralgia after generalized exposure to cold temperatures.

  • Familial Exudative Vitreoretinopathy

    4 members

    Familial Exudative Vitreoretinopathy is a rare retina disease characterized by lack of blood vessels in the peripheral retina.

  • Familial Hemiplegic Migraine

    5 members

  • Familial isolated dilated cardiomyopathy

    3 members

    Familial isolated dilated cardiomyopathy (FDC) is a rare inherited disorder which causes heart muscle abnormalities. This condition occurs in infants and children, however, the symptom...

  • Familial Mediterranean Fever

    2 members

    Familial Mediterranean Fever is a rare genetic autoinflammatory disease caused by mutations in the MEFV gene.

  • Fanconi Anemia

    4 members

    Fanconi Anemia is a rare genetic disease characterized by short stature, increased incidence of solid tumors and leukemias, and bone marrow failure (aplastic anemia).

  • Fanconi Syndrome

    4 members

    Fanconi Syndrome is a disorder in which the function of the kidney is impaired.

  • Femur-Fibula-Ulna Complex

    members

  • FG Syndrome

    4 members

    FG syndrome is a rare genetic disorder linked to the X chromosome which causes physical anomalies and developmental delays.

  • Fibrodysplasia Ossificans Progressiva

    7 members

    Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling musculoskeletal condition that most often arises as a result of a spontaneous new mutation. Once present, the disease i...

  • Fibromuscular Dysplasia

    5 members

    Fibromuscular Dysplasia is a rare disorder characterized by abnormal developments or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge.

  • Fibromyalgia

    101 members

    Fibromyalgia is a disorder characterized by chronic widespread pain sensitivity to light touch.

  • Fibrous Dysplasia of Bone

    5 members

    Fibrous Dysplasia of Bone is a rare disorder causing bone thinning and growths or lesions in the bones. This along with Endocrine abnormalities, is Mccune Albright Syndrome, which is even less comm...

  • Fibular Hemimelia

    1 members

    Fibular Hemimelia is the congenital absence or shortening of the fibula.

  • Fitz-Hugh-Curtis Syndrome

    members

    Fitz-Hugh-Curtis Syndrome is a rare complication of pelvic inflammatory disease, a general term for infection of the upper genital tract in women.

  • Focal Dystonia

    5 members

    Focal Dystonia is a rare neurological condition affecting a single or multiple muscles causing muscular contraction or twisting.

  • Follicular Lymphoma

    2 members

  • Fragile X Associated Tremor/Ataxia Syndrome

    1 members

    Fragile X Associated Tremor/Ataxia Syndrome is a rare neurdegenerative disorder.

  • Fragile X Syndrome

    2 members

    Fragile X Syndrome is a rare genetic disorder resulting in a spectrum of characteristic physical, intellectual, emotional and behavioural features.

     

     

  • Fraser Syndrome

    24 members

    Fraser Syndrome is a rare congenital disorder characterized by developmental defects, including webbed hands and feet and the underdevelopment of the eyes.

  • Friedreich's Ataxia

    5 members

    Friedreich's Ataxia is rare inherited genetic disorder characterized by progressive damage to the nervous system.

  • Frontotemporal Dementia

    10 members

    Frontotemporal Dementia is a rare disorder caused by degeneration of the frontal lobe of the brain.

  • Fructose malabsorption

    5 members

    Fructose malabsorption is a digestive disorder of the small intestine in which the fructose carrier in enterocytes is deficient.

  • Fructose-1,6-Bisphosphatase Deficiency

    3 members

    Hommes, et al., defines FDPase deficiency as "a rare, presumably autosomal recessive disorder of gluconeogenesis. ... Clinical hallmarks of this disorder are hyperventilation, irritability, ketoaci...

  • Fukuyama Congenital Muscular Dystrophy

    members

  • Galactosemia

    3 members

    Galactosemia is a rare genetic metabolic disorder characterized by the inability to properly metabolize the sugar galactose.

  • Gallbladder Cancer

    members

    Gallbladder Cancer is a rare form of cancer.

  • Gamma-Sarcoglycanopathy

    members

  • Gardner's Syndrome

    9 members

    Gardner's Syndrome is a rare genetic disorder characterized by multiple polyps and tumors in and around the colon.

     

  • Gastrointestinal Stromal Tumor

    1 members

  • Gastroschisis

    members

    Gastroschisis is a type of abdominal wall defect in which the intestines develop outside the fetal abdomen.

     

     

  • Gaucher Disease

    28 members

    Gaucher disease is an inherited metabolic disease that is caused by a deficiency of the enzyme, beta-glucocerebrosidase, which, in turn, results in an accumulation of the fat, glucosyl...

  • Geniospasm

    4 members

    Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip.

  • Geographic Tongue

    3 members

    Geographic tongue is a disorder of the tongue characterized by painful, discolored regions of taste buds.

  • Giant Axonal Neuropathy

    2 members

    Giant axonal neuropathy is a rare neurological disorder involving the dysfunction of a specific type of protein in nerve cells which is essential for normal nerve function because it forms neurofil...

  • Giant Cell Arteritis

    7 members

    Giant Cell Arteritis is an inflammatory disease of the blood vessels.

  • Gitelman Syndrome

    9 members

    Gitelman Syndrome is a rare genetic disorder causing the kidneys to pass too much sodium, magnesium, chloride, and potassium into the urine.

     

  • Glioblastoma Multiforme

    6 members

    Glioblastoma Multiforme is the most common and most aggressive type of primary brain tumor.

  • Gliomatosis Cerebri

    5 members

    Gliomatosis Cerebri is a rare form of brain tumor.

  • Glomus Tumor

    2 members

    Glomus tumors are a rare benign neoplasm typically found in the skin of the extremities.

  • Glucose Galactose Malabsorption Deficiency

    6 members

    Glucose Galactose Malabsorption Deficiency is a genetic disorder where the small intestine is unable to absorb and transport glucose and galactose in food.

  • Glucose Transporter Type 1 Deficiency Syndrome

    6 members

    Glucose Transporter Type 1 Deficiency Syndrome is a rare disorder caused by impaired glucose transport into the brain.

  • Glucose-6-Phosphate Dehydrogenase Deficiency

    6 members

    Glucose-6-Phosphate Dehydrogenase Deficiency is a hereditary disease characterised by abnormally low levels of glucose-6-phosphate dehydrogenase.

  • Glutaric Aciduria Type 1

    2 members

    Glutaric Aciduria Type 1 is a rare inherited disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan causing damage to the brain and other...

  • Glutaryl-CoA Dehydrogenase Deficiency

    1 members

  • Glycogen Storage Disease Type 1

    7 members

    Glycogen Storage Disease Type 1 is a genetic disorder resulting from deficiency of the enzyme glucose-6-phosphatase.

  • Glycogen Storage Disease Type 2

    5 members

    Glycogen Storage Disease Type 2 is a rare, autosomal recessive metabolic disorder.

  • Glycogen storage disease type 4

    2 members

    Glycogen storage disease type 4 is a very rare hereditary metabolic disorder.

  • Goldenhar Syndrome

    2 members

    Goldenhar Syndrome is a rare congenital disorder characterized by incomplete development of the ear, nose, soft palate, lip, and mandible.

  • Goodpasture's Syndrome

    4 members

    Goodpasture's Syndrome is a rare disorder characterized by rapid destruction of the kidneys and hemorrhaging of the lungs.

  • Gorlin Syndrome

    1 members

    Gorlin Syndrome is a genetic condition that increases the risk of developing tumors.

  • GRACILE Syndrome

    members

    GRACILE Syndrome genetic disorder of the Finnish heritage diseases.

     

     

    GRACILE is an acronym for growth retardation, amino aciduria, cholestasis, iron overload, lactic acido...

  • Graft Versus Host Disease

    1 members

    Graft Versus Host Disease is a bone marrow transplant complication in which the immune system recognizes the recipient as "foreign" causing an immunologic attack.

  • Granuloma Annulare

    2 members

    Granuloma Annulare is a rare chronic skin disorder consisting of a rash with reddish bumps.

  • Granulosa Cell Tumor of the Ovary

    members

    Granulosa Cell Tumors of the Ovary arise from granulosa cells. These tumours are part of the sex cord-gonadal stromal tumouror non-epithelial group of tumours.

  • Graves' Disease

    8 members

    Graves' Disease is a rare thyroid disorder characterized by goitre, exophthalmos, and hyperthyroidism.

  • Great Vessels Transposition

    2 members

    Great Vessels Transposition is a congenital heart defect involving the arrangement of any of the primary blood vessels.

     

     

  • Greig Cephalopolysyndactyly Syndrome

    5 members

    Greig Cephalopolysyndactyly Syndrome is a rare disorder characterized by extra fingers and toes, widely spaced eyes and a flattish nose.

  • Griscelli Syndrome

    1 members

    Griscelli Syndrome is a rare disordercharacterized by albinism and immunodeficiency.

  • Grover's Disease

    1 members

    Grover's Disease is a skin disorder characterized by small red, bumpy spots.

     

  • Growth Hormone Deficiency

    8 members

    Growth Hormone Deficiency is a disorder in which the body does not produce enough growth hormone.

  • Guillain-Barré Syndrome

    6 members

    Guillain-Barré Syndrome is a rare nervous system disorder in which the body's immune system attacks part of the peripheral nervous system.

  • Gyrate Atrophy

    25 members

    Gyrate Atrophy is a rare hereditary metabolism disorder primarily affecting the retina.

  • Hailey–Hailey Disease

    7 members

    Hailey–Hailey Disease is a rare genetic disorder that causes blisters to form on the skin.

  • Hajdu-Cheney Syndrome

    1 members

    Hajdu-Cheney Syndrome is a rare genetic disorder of the connective tissue.

  • Hallermann-Streiff Syndrome

    4 members

    Hallermann-Streiff Syndrome is a rare congenital disorder that affects growth, cranial development, hair growth and dental development.

     

     

  • Harding Ataxia

    2 members

    Harding Ataxia is rare disorder characterized by progressive damage to the nervous system.

  • Harlequin Syndrome

    16 members

    Harlequin syndrome is a rare disorder characterized by flushing and sweating on only one side of the face typically induced by heat or exercise.

  • Hartnup Syndrome

    2 members

    Hartnup Syndrome is a rare autosomal recessive metabolic disorder affecting the absorption of neutral amino acids.

  • Hashimoto's Encephalopathy

    16 members

    Hashimoto's Encephalopathy is a very rare condition associated with Hashimoto's Thyroiditis.

  • Heller's Syndrome

    5 members

    Heller's Syndrome is an extreme disorder that resembles autism. It is a disintegrative disorder that sets back the child's intelligence and social abilities.

     

     

    A normal chi...

  • Hemangiopericytoma

    7 members

    Hemangiopericytomas are rare vascular tumors coming from cells associated with capillary walls. These tumors can be found throughout the body,most commonly in the lower extremities, pelvic area, ...

  • Hemochromatosis

    8 members

    Hemochromatosis is a rare hereditary disease characterized by excessive absorption of dietary iron.

  • Hemoglobin Hasharon

    1 members

    Hemoglobin Hasharon is a rare blood disorder.

  • Hemophagocytic Lymphohistiocytosis

    6 members

    Hemophagocytic Lymphohistiocytosis is a disorder characterized by fever, splenomegaly, jaundice, and hemophagocytosis.

     

     

  • Hemophilia

    12 members

    Hemophilia is an inherited bleeding disorder which prevents the blood from clotting normally.

  • Heparin-Induced Thrombocytopenia

    1 members

    Heparin-induced thrombocytopenia is the development of thrombocytopenia due to the administration of heparin, an anticoagulant.

  • Hepatic Venoocclusive Disease

    1 members

    Hepatic Venoocclusive Disease is a disroder in which there is blockage of some of the small veins in the liver.

  • Hepatitis C Virus Cirrhosis of the Liver

    5 members

    In HCV cirrhosis of the liver, scar tissue blocks the flow of blood through the liver and preventing it from working as it should.

  • Hereditary Fructose Intolerance

    4 members

    Hereditary Fructose Intolerance is a rare genetic disorder caused by a deficiency of liver enzymes that metabolise fructose.

  • Hereditary Hyperferritinemia Cataract Syndrome

    members

  • Hereditary Inclusion Body Myopathies

    5 members

    Hereditary Inclusion Body Myopathies are a group of rare genetic disorders causing progressive muscle wasting and weakness beginning in young adults.

     

     

     

  • Hereditary Multiple Exostoses

    16 members

    Multiple Hereditary Exostoses / Multiple Osteochondroma is a rare genetic bone condition in which multiple benign cartilage-capped bone tumors called exostoses / osteochondromas develop. They grow ...

  • Hereditary Pancreatitis

    10 members

    Hereditary Pancreatitis is a condition characterized by recurrent episodes of pancreatic attacks.

  • Hereditary Renal Adysplasia

    members

    Hereditary Renal Adysplasia is a disorder in which one kidney is absent and the other is very small and malformed.

  • Hereditary Spherocytosis

    9 members

    Hereditary Spherocytosis is a genetic disorder characterized by the production of red blood cells that are more prone to hemolysis.

  • Hereditary Stomatocytosis

    members

    Hereditary Stomatocytosis describes a number of inherited disorders that affect the outer coating of the red blood cells.

     

     

  • Hermansky-Pudlak Syndrome

    3 members

    Hermansky-Pudlak Syndrome is a rare form of albinism resulting in decreased pigmentation, platelet abnormality, legal blindness, and storage of an abnormal fat-protein compound.

     

  • Hidradenitis Suppurativa

    19 members

    Hidradenitis Suppurativa is a rare skin disease affecting areas bearing apocrine sweat glands and hair follicles.

  • HIDS

    3 members

    HIDS is a periodic fever syndrome characterized by attacks of fever, arthralgia, skin lesions including cyclical mouth ulcers, and diarrhea.

  • Hirschsprung Disease

    9 members

    Hirschsprung Disease is a rare disorder characterized by the enlargement of the colon due to bowel obstruction.

  • Histidinemia

    members

    Histidinemia is a rare disorder caused by a deficiency of the enzyme histidase.

  • Hodgkin Lymphoma

    3 members

    Hodgkin Lymphoma is a rare type of cancer originating from a type of white blood cells called lymphocytes.

  • Holocarboxylase Synthetase Deficiency

    members

    Holocarboxylase synthetase deficiency is a disorder in which the body is unable to use the vitamin biotin effectively.

  • Holoprosencephaly

    members

    Holoprosencephaly is a rare disorder in which the brain does not develop into two hemispheres.

  • Holt-Oram Syndrome

    4 members

    Holt-Oram Syndrome is a rare disorder characterized by limb abnormalities, affecting the bones in the wrist and commonly the heart.

  • Homocystinuria

    5 members

    Homocystinuria is a rare genetic disorder affecting the metabolism of the amino acid methionine.

  • Horner's Syndrome

    5 members

    Horner syndrome is a rare disorder characterized by damage to the sympathetic nerves of the face and eye.

  • Human T-Lymphotropic Virus

    1 members

    Human T-Lymphotropic Virus is an RNA retrovirus that causes T-cell leukemia and T-cell lymphoma in adults.

  • Hunter Syndrome

    5 members

    Hunter Syndrome is a rare lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S).

  • Huntington Disease

    9 members

    Huntington Disease is an inherited neurological disorder caused by a mutated Htt protein resulting in cell death in selected parts of the brain.

  • Hurler Syndrome

    31 members

    Hurler Syndrome is a rare disorder characterized by the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase.

  • Hydrolethalus Syndrome

    members

    Hydrolethalus Syndrome is a rare genetic disorder characterized by improper fetal development.

  • Hyperacusis

    1 members

    Hyperacusis is a rare hearing disorder that causes sounds which would otherwise seem normal to most people to sound unbearably loud. People who suffer from hyperacusis may even find normal envir...

  • Hyperemesis Gravidarum

    3 members

    Hyperemesis Gravidarum is a rare and severe form of morning sickness characterized by nausea and vomiting during pregnancy that may require hospitalization.

  • Hyperhidrosis

    4 members

    Hyperhidrosis is a rare disorder characterized by excessive sweating on the palms of the hands, the soles of the feet, in the armpits, in the groin area, and/or under the breasts.

  • Hyperkalemic Periodic Paralysis

    5 members

    Hyperkalemic Periodic Paralysis is a rare inherited autosomal dominant disorder.

  • Hyperlipoproteinemia

    1 members

    Hyperlipoproteinemia is the raised presence lipids in the blood.

  • Hyperoxaluria

    3 members

    Hyperoxaluria is a disorder characterized by excessive oxalate in the urine.

  • Hyperprolinemia

    3 members

    Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline oxidase or pyrroline-5-carboxylate dehydrogense.

  • Hypersensitivity Pneumonitis

    1 members

    Hypersensitivity Pneumonitis is an inflammation of the lungs caused by hypersensitivity to inhaled organic dusts.

  • Hypochondroplasia

    1 members

    Hypochondroplasia is a developmental disorder classified as short-limbed dwarfism.

  • Hypokalemic Periodic Paralysis

    12 members

    Hypokalemic Periodic Paralysis is a rare disorder characterized by muscle weakness or paralysis.

  • Hypomagnesemia with secondary hypocalcemia

    3 members

    Hypomagnesemia with secondary hypocalcemia is an autosomal recessive genetic disorder affecting intestinal magnesium absorption.

  • Hypomyelination and Atrophy of the Basal Ganglia and the Cerebellum

    1 members

    H-ABC, for short.  Children and young adults with mutations of the TUBB4-4 gene.

  • Hypoparathyroidism

    5 members

    Hypoparathyroidism is a rare disorder in which your body secretes abnormally low levels of parathyroid hormone which plays a key role in regulating and maintaining a balance of your body's levels o...

  • Hypophosphatasia

    25 members

    Hypophosphatasia is a rare metabolic bone disorder characterized by decreased tissue nonspecific alkaline phosphatase and defective bone mineralization.

  • Idiopathic Atrophoderma of Pasini and Pierini

    1 members

    Idiopathic Atrophoderma of Pasini and Pierini is a form of dermal atrophy.

  • Idiopathic Autoimmune Hemolytic Anemia

    4 members

    Idiopathic Autoimmune Hemolytic Anemia is a reduction in the number of red blood cells due to the body's immune system.

  • Idiopathic Hypersomnia

    20 members

    Idiopathic Hypersomnia is a rare sleep disorder characterized by daytime sleepiness.

  • Idiopathic Interstitial Pneumonia

    1 members

    Idiopathic Interstitial Pneumonia is a rare disorder affecting thetissue and space around the air sacs of the lungs.

  • Idiopathic Juxtafoveal Macular Telangiectasia

    17 members

    Idiopathic Juxtafoveal Macular Telangiectasia is overgrowth and leakage of dilated, twisted, capillaries around the fovea centralis of the retina, leading to distortion, scotomas, and loss of centr...

  • Idiopathic Pulmonary Fibrosis

    10 members

    Idiopathic Pulmonary Fibrosis is a rare pulmonary disorder characterized by scarring of the lungs.

  • Idiopathic Pulmonary Haemosiderosis

    6 members

    Idiopathic Pulmonary Haemosiderosis is a rare lung disorder characterized by alveolar capillary bleeding and accumulation of iron (in the form of haemosiderin) in the lungs.

  • Idiopathic Sensory Polyneuropathy

    members

    Idiopathic Sensory Polyneuropathy is a disorder affecting the nerves that has no identifiable primary cause.

  • Idiopathic Thrombocytopenic Purpura

    13 members

    Idiopathic Thrombocytopenic Purpura is a condition in which the blood does not clot as quickly as it should due to a low number of platelets.

  • IgA Nephropathy

    6 members

    IgA Nephropathy is a kidney disease that occurs when the antibody IgA lodges in your kidneys.

  • Iminoglycinuria

    members

  • Inclusion Body Myositis

    6 members

    Inclusion Body Myositis is a rare inflammatory muscle disease.

  • Incontinentia Pigmenti

    5 members

    Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, and nails.

  • Intestinal Pseudo Obstruction

    4 members

    Intestinal Pseudo Obstruction is a rare disorder characterized by the decreased ability of the intestines to push food through.

  • Intracranial Lipoma

    4 members

    Intracranial Lipomas are rare congenital malformations, usually pericallosal asymptomatic midline lesions.

     

  • Iritis

    4 members

    Iritis is characterized by the inflammation of the iris of the eye.

  • Isaac's Syndrome

    8 members

    Isaac's Syndrome is a rare neuromuscular disorder.

  • Isovaleric Acidemia

    1 members

    Isovaleric Acidemia is a rare autosomal recessive metabolic disorder characterized by abnormal buildup of organic acids.

  • Jacobsen Syndrome

    3 members

    Jacobsen Syndrome is a rare disorder resulting from deletion of a part of chromosome 11 causing mild mental retardation, a distinctive facial appearance, and various physical problems.

  • Jarcho-Levin Syndrome

    1 members

    Jarcho-Levin Syndrome is a rare hereditary skeletal growth disorder.

  • Jejunal Atresia

    11 members

    Jejunal Atresia is a rare genetic disorder caused by the partial absence of the fold of the stomach membrane that connects the small intestine to the back wall of the abdomen resulting in the jejun...

  • Jeune Syndrome

    1 members

  • Johanson-Blizzard Syndrome

    3 members

    Johanson-Blizzard syndrome is a rare disorder characterized by abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure.

  • Joubert Syndrome

    3 members

    Joubert Syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.

  • Juvenile Psoriatic Arthritis

    2 members

  • Juvenile Rheumatoid Arthritis

    6 members

    Juvenile Rheumatoid Arthritis is a long-term (chronic) disease resulting in joint pain and swelling that affects children.

  • Juvenile X-Linked Retinoschisis

    1 members

    Juvenile X-Linked Retinoschisis is a rare genetic disorder primarily affecting young men.

  • Kabuki Syndrome

    5 members

    Kabuki Syndrome is a very rare pediatric congenital disorder characterized by multiple congenital anomalies and mental retardation.

  • Kallmann Syndrome

    6 members

  • Kaposi's Sarcoma

    1 members

    Kaposi's Sarcoma is a tumor caused by Human herpesvirus 8 (HHV8).

  • Kawasaki Disease

    5 members

    Kawasaki Disease is a rare form of vasculitis characterized by high fevers, rash, swelling of lymph nodes in the neck and pain.

  • KBG Syndrome

    1 members

    KBG Syndrome is a rare genetic disorder characterized by short stature, mental retardation and abnormal development of various bones.

  • Kearns-Sayre Syndrome

    4 members

    Kearns-Sayre Syndrome is a rare disorder caused by a 5,000 base deletion in the mitochondrial DNA.

  • Kennedy's Disease

    3 members

    Kennedy's Disease is a rare neuromuscular disease involving the mutation of the androgen receptor.

  • Keratoconus

    4 members

    Keratoconus is an eye disorder in which structural changes within the cornea cause it to thin and become more conical.

     

  • Kienbock's Disease

    9 members

    Kienbock's disease is a wrist disorder caused by the breakdown of the lunate bone.

  • Kikuchi's Disease

    4 members

    Kikuchi's disease is a rare non-cancerous enlargement of the lymph nodes.

  • Klatskin Tumor

    members

  • Kleine-Levin Syndrome

    4 members

    Kleine-Levin Syndrome is a rare disorder characterized by the need for excessive amounts of sleep.

  • Klinefelter's Syndrome

    10 members

    Klinefelter's Syndrome is a rare genetic condition caused by a chromosome aneuploidy.

  • Klippel-Feil Syndrome

    2 members

    Klippel-Feil Syndrome is a rare disorder characterized by the fusion of any 2 of the 7 cervical vertebrae.

  • Klippel-Trenaunay Syndrome

    9 members

    Klippel-Trenaunay Syndrome is a congenital circulatory disorder characterized by hemiangiomas, arteriovenous abscesses, and varicose veins, usually on the limbs.

  • Krabbe Disease

    1 members

    Krabbe Disease is a rare disorder that affects the myelin sheath of the nervous system.

  • LADD Syndrome

    1 members

    LADD Syndrome is a rare genetic disorder characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.

  • Lafora Disease

    1 members

    Lafora Disease is a rare genetic disorder characterized by the presence of Lafora bodies, within neurons and the cells of the heart, liver, muscle, and skin.

  • Lambert-Eaton Myasthenic Syndrome

    8 members

    Lambert-Eaton Myasthenic Syndrome is a rare autoimmune disorder which affects calcium delivery to the nerve-muscle junctions.

  • Lamellar Ichthyosis

    2 members

    Lamellar Ichthyosis is a rare inherited skin disorder.

  • Landau-Kleffner Syndrome

    4 members

    Landau-Kleffner Syndrome is a childhood disorder characterized by the loss of the ability to understand and use spoken language.

  • Langerhans Cell Histiocytosis

    10 members

    Langerhans Cell Histiocytosis (LCH) is a rare disorder involving the langerhans cells, typically found bone marrow, which migrate throughout the body.

  • Large Congenital Melanocytic Nevus

    4 members

    A Large or Giant Congenital Melanocytic Nevus (plural: Nevi) is a pigmented lesion, substantial in size, either present at birth or very shortly after birth (within 2 years). These rare large birt...

  • Large Granular Lymphocytic Leukemia

    243 members

    Large Granular Lymphocytic Leukemia is a rare disease characterized by unexplained elevation in large granular lymphocytes in the blood.

  • Larsen Syndrome

    members

  • Laryngo-Tracheo-Esophageal Cleft

    1 members

  • Lateral body wall complex

    1 members

  • Lateral Medullary Syndrome

    1 members

    Lateral Medullary Syndrome is a rare disorder characterized by difficulty swallowing or speaking due to dead tissue.

     

     

  • Lateral Meningocele Syndrome

    4 members

    Lateral Meningocele Syndrome is a rare disorder characterized by multiple lateral meningoceles (meninges protrude from a spinal opening).

  • Leber Hereditary Optic Neuropathy

    9 members

    Leber Hereditary Optic Neuropathy is an inherited degeneration of retinal ganglion cells leading to loss of central vision.

  • Leber's Congenital Amaurosis

    4 members

    Leber's Congenital Amaurosis is a rare inherited eye disorder.

  • Ledderhose's Disease

    16 members

    Ledderhose's Disease is a rare disorder consisting of non-malignant thickening of the feet's deep connective tissue.

  • Legg-Calve-Perthes Syndrome

    7 members

    Legg-Calve-Perthes Syndrome is a degenerative disease of the hip joint.

  • Leigh Syndrome

    7 members

    Leigh Syndrome is a rare genetic disorder caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase.

  • Leiomyosarcoma

    7 members

    Leiomyosarcoma is a rare form of cancer arising from muscle tissue.

  • Lemierre's Syndrome

    4 members

    Lemierre's Syndrome is a rare disorder characterized by oropharyngeal infection, usually caused by Fusobacterium necrophorum.

  • Lennox-Gastaut Syndrome

    5 members

    Lennox–Gastaut Syndrome is a rare form of childhood-onset epilepsy.

  • Léri-Weill Dyschondrosteosis

    8 members

    Léri-Weill Dyschondrosteosis is a rare disorder which results in dwarfism.

  • Lesch-Nyhan Syndrome

    2 members

  • Lewis-Sumner Syndrome

    10 members

    Lewis-Sumner Syndrome is a dysimmune multifocal demyelinating sensorimotor neuropathy.

  • Lewy Body Dementia

    members

    Lewy Body Dementia is a type of dementia similar to Alzheimers and Parkinson's Diseases.

  • Leydig Cell Tumor

    members

    Leydig cell tumors are rare tumors of the testis derived from the interstitial cells.

  • Lichen Sclerosus

    11 members

    Lichen Sclerosus is a rare disorder characterized by white patches on the skin.

  • Light Chain Deposition Disease

    16 members

    Light Chain Deposition Disease is a rare disorder in which the monoclonal sFLC accumulates within cells in the kidneys and other organs.

  • Limb-Girdle Muscular Dystrophy

    3 members

  • Linear Morphea

    3 members

    Linear Morphea is a variant of localized scleroderma usually occurring along the length of a limb or around the trunk.

  • Lipodermatosclerosis

    11 members

    Lipodermatosclerosis is a rare skin disorder characterized by smooth, brown, tight and painful skin just above the ankle resulting in chronic venous insufficiency.

  • Lipodystrophy

    17 members

    Lipodystrophy is a disorder characterized by loss of body fat in particular areas of the body.

  • Loin Pain Hematuria Syndrome

    12 members

    Loin Pain Hematuria Syndrome is the combination of flank pain and blood in the urine that is otherwise unexplained.

  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase

    2 members

    Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare disorder that prevents the body from converting certain fats to energy.

  • Long QT Syndrome

    members

  • Loose Anagen Hair Syndrome

    6 members

    Loose Anagen Hair Syndrome is a rare disorder in which hair falls out easily and is pulled out easily.

  • Lowe Syndrome

    members

    Lowe Syndrome is a rare genetic disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.

  • Lujan-Fryns Syndrome

    3 members

    Lujan-Fryns syndrome is a rare genetic disorder which causes mental retardation and physical characteristics similar to those found in Marfan syndrome.

  • Lyme Disease

    5 members

    Lyme Disease is an infectious disease caused by bacteria.

  • Lymphangioleiomyomatosis

    6 members

    Lymphangioleiomyomatosis is a rare idiopathic disorder.

  • Lymphangiomatosis

    4 members

    Lymphangiomatosis is a rare condition where a lymphangioma is present in a widespread or multifocal manner.

  • Lymphantic Filariasis

    2 members

    Lymphantic Filariasis is a rare parasitic tropical disease causing elephantiasis of the lower extremities.

  • Lymphocytic Colitis

    4 members

    Lymphocytic Colitis is a rare disorder characterized by diarrhea.

  • Lymphomatoid Papulosis

    4 members

    Lymphomatoid Papulosis is a rare skin disorder suggestive of malignant lymphoma.

  • Macrophagic Myofasciitis

    1 members

    Macrophagic Myofasciitis, is a rare muscle disorder characterized by microscopic lesions found in muscle biopsies.

  • Macular Pucker

    1 members

    Macular Pucker is scar tissue that has formed on the eye's macula/retina.

  • Mal de Debarquement Syndrome

    5 members

    Mal de Debarquement Syndrome is a rare condition usually occurring after a cruise, aircraft flight, or other sustained motion event resulting in a persistent sensation of motion such as rocking, sw...

  • Malignant Hyperthermia

    3 members

    Malignant Hyperthermia is a rare disorder caused by exposure to certain drugs used for general anesthesia.

  • Malignant Osteopetrosis

    3 members

    In osteopetrosis, osteoclasts do not function normally. Bone is deposited by osteoblasts, but not remodeled by osteoclasts. The results are dense hard bones that are actually more brittle because t...

  • Malonyl-Coenzyme A Decarboxylase Deficiency

    1 members

    Malonyl-Coenzyme A Decarboxylase Deficiency is a condition that prevents the body from converting some typs of fat to energy.

  • Mantle Cell Lymphoma

    2 members

    Mantle Cell Lymphoma is one of the rarer forms of non-Hodgkin's lymphoma.

  • Maple Syrup Urine Disease

    members

    Maple Syrup Urine Disease is a rare disorder resulting in the buildup of the branched-chain amino acids in the blood and urine.

  • Marden-Walker Syndrome

    8 members

    Marden-Walker Syndrome is a rare disorder characterized by a distinct facial expression, a small or receding jaw, a cleft or high-arched palate, growth delay, bone joints in a fixed position and li...

  • Marfan Syndrome

    6 members

    Marfan Syndrome is a genetic disorder affecting roughly 200,000 Americans caused by mutations in the FBN1 gene.

  • Maroteaux-Lamy Syndrome

    1 members

  • MASA Syndrome

    1 members

    MASA syndrome is a rare neurological disorder characterized by Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs.

     

  • Mayer-Rokitansky-Küster-Hauser Syndrome

    11 members

    Mayer-Rokitansky-Küster-Hauser Syndrome is a rare disorder characterized by the absence of the Müllerian ducts and uterus.

  • McKusick-Kaufman Syndrome

    2 members

    McKusick-Kaufman Syndrome is a rare developmental disorder characterized by extra fingers and/or toes, heart defects, and genital abnormalities.

  • Meckel Syndrome

    2 members

    Meckel Syndrome is a rare genetic disorder.

  • MECP2 Duplication Syndrome

    1 members

    MECP2 Duplication Syndrome is a rare brain disorder that causes severe intellectual disability, weak muscle tone, and seizures. It is caused by a duplication of the MECP2 gene.

  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency

    2 members

  • Medullary Cystic Kidney Disease

    5 members

    Medullary Cystic Kidney Disease is a rare kidney disorder.

  • Medullary Sponge Kidney

    2 members

    Medullary Sponge Kidney is a rare disorder of the kidneys characterized by a cystic dilatation of the collecting tubules in the kidneys.

  • Medullary thyroid carcinoma

    members

    Medullary thyroid carcinoma is a rare form of thyroid carcinoma that originates in the parafollicular C cells of the thyroid gland.

  • Megalencephaly Cutis Marmorata Telangiectatica Congenita

    6 members

    Megalencephaly Cutis Marmorata Telangiectatica Congenita is a rare disorder characterized by an enlarged brain.

  • Megaloblastic Anemia

    members

  • Melanoma

    4 members

    Melanoma is a malignant tumor of melanocytes which are found predominantly in skin but also in the bowel and the eye

  • MELAS Syndrome

    2 members

  • Melkersson–Rosenthal Syndrome

    members

    Melkersson–Rosenthal Syndrome is a rare neurological disorder characterized by reoccurring facial paralysis, swelling of the face and lips, and the development of folds and furrows in the tongue.

  • Melnick-Needles Syndrome

    members

    Melnick-Needles Syndrome is a rare genetic disorder of the bones, but also affects the soft body tissue such as the kidneys and the renal tract.

  • Membranoproliferative Glomerulonephritis

    4 members

    Membranoproliferative Glomerulonephritis is a rare progressive glomerulonephritis (type of kidney disease).

  • Mendelian susceptibility to atypical mycobacteria

    members

  • Meniere's Disease

    14 members

    Meniere's Disease is a disorder of the inner ear and is one of the most common causes of dizziness from the inner ear.

  • Meningioma

    2 members

    Meningiomas are the most common benign tumors of the brain.

  • Menkes Syndrome

    2 members

    Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.

  • MERRF Syndrome

    1 members

    MERRF Syndrome is a rare disorder that affects the function of the mitochondria.

  • Metachromatic Leukodystrophy

    6 members

    Metachromatic Leukodystrophy is a rare lysosomal storage disease.

  • Metaphyseal Dysplasia

    4 members

    Metaphyseal Dysplasia is s a rare disorder in which the outer part of the shafts of long bones is unusually thin with a tendency to fracture.

  • Methicillin-Resistant Staphylococcus Aureus Infection

    1 members

    MRSA stands for methicillin-resistant Staphylococcus aureus. It causes a staph infection (pronounced "staff infection") that is resistant to several common antibiotics. There are two types of infec...

  • Methylenetetrahydrofolate Reductase Deficiency

    9 members

    Methylenetetrahydrofolate Reductase Deficiency (MTHFR) is a rare blood disorder and caused by mutations resulting in decreased enzyme activity.

  • Microcephaly

    8 members

    Microcephaly is a rare neurodevelopmental disorder in which the circumference of the head is smaller than normal.

  • Microduplication 22q11.2 Syndrome

    57 members

    Microduplication 22q11.2 Syndrome is a rare disorder characterized by the duplication of a part of chromosome band 22q11.2.

  • Microscopic Polyangiitis

    4 members

    Microscopic Polyangiitis is a rare autoimmune disease. This disease can affect many of the body's organ systems including (but not limited to) the kidneys, nervous system (particularly the peripher...

  • Miller-Dieker Syndrome

    3 members

    Miller-Dieker Syndrome is a rare develpomental brain disorder caused by incomplete neuronal migration.

     

     

  • Minicore Myopathy

    3 members

    Minicore Myopathy is characterized by multiple small areas of disruption in the muscle.

  • Minimal Change Disease

    4 members

    Minimal Change Disease is a disease of the kidney usually affecting children.

  • Mitochondrial Diseases

    24 members

    Mitochondrial Diseases are a group of rare disorders relating to the mitochondria.

  • Mixed Connective Tissue Disease

    40 members

    Mixed Connective Tissue Disease is a rare disorder characterized by features of systemic lupus erythematosus, systemic sclerosis, and polymyositis.

  • Moebius Syndrome

    6 members

    Moebius Syndrome is a rare congenital neurological disorder characterized by facial paralysis and the inability to move the eyes from side to side.

  • Monomelic Amyotrophy

    4 members

    Monomelic Amyotrophy is a rare lower motor neuron disorder that primarily affects young adult males in India and Japan.

  • Monosomy 21

    3 members

    Monosomy 21 is a rare disorder in which the 21st chromosome is missing from what should be a pair in every cell throughout the body.

  • Monosomy 9p

    1 members

    Monosomy 9p is a rare disorder with the deletion of a portion of chromosome 9.

  • Morgellons

    34 members

    Morgellons is a condition characterized by a range of symptoms including crawling, biting, and stinging sensations on the skin; finding fibers on or under the skin; and persistent rashes or sores.

  • Morquio Syndrome

    3 members

    Morquio Syndrome is a rare mucopolysaccharide storage disorder.

  • Moyamoya Disease

    36 members

    Moyamoya Disease is a rare disorder caused by blocked arteries at the base of the brain in the the basal ganglia.

  • MPPH Syndrome

    29 members

    MPPH (Magalencephaly, Polymicrogyria, Prodadactyly & Hydromcephalus) Syndrome.

  • Muckle-Wells Syndrome

    100 members

    Muckle-Wells Syndrome is a rare disorder characterized by progressive hearing loss.

  • Mucolipidosis Type 2

    2 members

  • Muenke Syndrome

    2 members

    Muenke Syndrome is a disorder characterized by the premature closure of bones of the skull during development.

  • Multicentric Reticulohistiocytosis

    6 members

    Multicentric Reticulohistiocytosis is a rare disorder characterized by the proliferation of immune cells, causing arthritis and skin nodules.

  • Multifocal Motor Neuropathy with Conduction Block

    8 members

    Multifocal Motor Neuropathy with Conduction Block is a rare disorder causing the destruction of the protective sheath around nerves.

  • Multiple Endocrine Neoplasia Type 1

    6 members

    Multiple endocrine neoplasia type 1 is a disorder in which multiple endocrine glands become overactive at the same time.

  • Multiple Endocrine Neoplasia Type 2A

    members

    Multiple Endocrine Neoplasia Type 2A is a is hereditary syndrome characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism and occasionally cutaneous lichen amyloid...

  • Multiple Endocrine Neoplasia Type 2B

    3 members

    Multiple endocrine neoplasia, Type 2B is a rare familial cancer syndrome caused by mutations in the RET proto-oncogene.

  • Multiple Epiphyseal Dysplasia

    10 members

    Multiple Epiphyseal Dysplasia is a rare cartilage and bone disorder.

  • Multiple Intestinal Lipomatosis

    members

    Multiple Intestinal Lipomatosis is a rare disorder characterized by benign tumors in the intestinal tract.

  • Multiple Myeloma

    16 members

    Multiple Myeloma is a rare type of cancer of plasma cells. It is also known as bone marrow cancer or as one of the blood cancers.

  • Multiple Pterygium Syndrome

    1 members

    Multiple Pterygium Syndrome is a rare genetic disorder characterized by facial anomalies, short stature, vertebral defects, and webbing of the neck, inside bend of the elbows, back of the knees, ar...

  • Multiple Sclerosis

    24 members

    Multiple Sclerosis is a disorder in which the myelin sheaths around the axons of the brain and spinal cord are damaged.

  • Multiple System Atrophy

    9 members

    Multiple System Atrophy is a rare neurodegenerative disease caused by cell loss in the brain imparing the autonomic nervous system and the motor system.

  • MURCS Association

    members

    MURCS Association is a rare disorder that affects females. MURCS stands for Mullerian, Renal, Cervicothoracic Somite abnormalities.

  • Muscle-Eye-Brain Disease

    2 members

    Congenital musclar dystrophy, severe myopia, brain involvement is "cobblestone" cortex with mental retardation and many other brain deformities.

  • Muscular Dystrophy, Duchenne and Becker Types

    15 members

    Duchenne and Becker Muscular Dystrophy is a genetic condition characterized by progressive muscle weakness and atrophy which primarily affects the skeletal and heart muscles.

  • Myalgic Encephalomyelitis

    11 members

    Myalgic Encephalomyelitis is a neurological condition typified by dysregulation and varying symptomologies of the nervous, endocrine, digestive, and immune systems.

  • Myasthenia Gravis

    15 members

    Myasthenia Gravis is a rare autoimmune neuromuscular disease characterized by fluctuating muscle weakness and fatiguability.

  • Mycobacterium Avium Complex

    1 members

    Mycobacterium avium complex (MAC) is a group of genetically related bacteria belonging to the genus Mycobacterium. It includes Mycobacterium avium and Mycobacterium intracellulare.

  • Mycobacterium Kansasii Olecranon Bursitis

    members

    Mycobacterium Kansasii Olecranon Bursitis is a condition characterised by pain, swelling and inflammation of the olecranon bursa in the elbow caused by the bacterium mycobacterium kansasii.

  • Mycosis Fungoides

    4 members

    Mycosis Fungoides is a rare form of cutaneous T-cell lymphoma (Non-Hodgkin lymphoma).

  • Myelodysplastic Syndromes

    5 members

    Myelodysplastic Syndromes is a group of rare hematological disorders characterized by ineffective production of myeloid blood cells.

  • Myelofibrosis with Myeloid Metaplasia

    7 members

    Myelofibrosis with Myeloid Metaplasia is a rare disorder of the bone marrow.

  • Myoadenylate Deaminase Deficiency

    2 members

    Myoadenylate Deaminase Deficiency is a recessive genetic metabolic disorder characterized by the failure to deaminate the AMP molecules.

  • Myoclonus-Dystonia

    6 members

    Myoclonus-Dystonia is a rare movement disorder characterized by rapid, brief muscle contractions and/or sustained twisting and repetitive movements that result in abnormal postures.

  • Myotonic Dystrophy Type 1

    3 members

  • Myotubular Myopathy

    4 members

    Myotubular Myopathy is a rare genetic disorder causing low muscle tone in the voluntary muscles.

  • Naegeli-Franceschetti-Jadassohn Syndrome

    1 members

    Naegeli–Franceschetti–Jadassohn Syndrome is a rare form of ectodermal dysplasia characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and the t...

  • Nail-Patella Syndrome

    4 members

    Nail-Patella Syndrome is a rare genetic disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, iliac horns, clubbed feet, glaucoma and kidney disease.

  • Narcolepsy

    8 members

    Narcolepsy is a neurological condition most characterized by Excessive Daytime Sleepiness.

  • NARP syndrome

    members

  • Nasu-Hakola Disease

    members

    Nasu-Hakola Disease is a rare genetic disorder characterized by a combination of systemic bone cysts and dementia.

  • Nemaline Myopathy

    2 members

    Nemaline Myopathy is a rare neuromuscular disorder.

  • Neonatal Diabetes Mellitus

    1 members

    Neonatal Diabetes Mellitus is a genetic form of diabetes resulting in the congenital impairment of insulin release.

  • Neonatal Onset Multisystem Inflammatory Disease

    16 members

    Neonatal Onset Multisystem Inflammatory Disease is a rare genetic disorder which causes inflammation in multiple parts of the body.

  • Nephrogenic diabetes insipidus

    3 members

    Diabetes insipidus is a disorder characterized by excretion of large amounts of diluted urine. Nephrogenic diabetes insipidus is cuased by the kidney's inabilityto respond normally to ADH.

  • Nephrogenic Systemic Fibrosis

    1 members

    Nephrogenic Systemic Fibrosis is a rare disorder involving fibrosis of skin, joints, eyes, and internal organs.

  • Nerve Entrapment

    2 members

    Nerve Entrapment is a disorder that occurs when nerves become compressed or entrapped at various regions of the extremities.

     

  • Netherton Syndrome

    1 members

  • Neuroblastoma

    3 members

    Neuroblastoma is a rare form of extracranial solid cancer found in children.

  • Neurofibromatosis Type 1

    10 members

    Neurofibromatosis type 1 or NF1 is a tumor predisposition syndrome characterized by the development of tumors in the skin and in the nervous system called neurofibromas. These neurofibromas are ...

  • Neurofibromatosis Type 2

    8 members

    Neurofibromatosis type 2 or NF2 is a genetic disorder characterized by the development of benign tumors in the nervous system. Depending on the type of cell that originates the tumor, these tumo...

  • Neuromyelitis Optica

    8 members

    Neuromyelitis optica (NMO) – previously called Devic's disease – is a rare autoimmune disease affecting the central nervous system – CNS – that causes inflammation of...

  • Neuropathy Hereditary with Liability to Pressure Palsies

    6 members

    Neuropathy Hereditary with Liability to Pressure Palsies is a disorder in which the peripheral nerves are unusually sensitive to pressure.

  • Niemann-Pick Disease

    5 members

    Niemann-Pick Disease is an autosomal recessive disorder affecting lipid metabolism in a way which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.

  • Nijmegen Beakage Syndrome

    1 members

    Nijmegen Beakage Syndrome is a rare disorder characterised by chromosomal instability.

  • Nocardiosis

    4 members

    Nocardiosis is an infectious disease affecting either the lungs or the entire body, caused by the bacterium Nocardia.

  • Nodular Regenerative Hyperplasia

    members

    Nodular Regenerative Hyperplasia is a rare form of liver hyperplasia.

  • Non-Distal Trisomy 12p

    members

  • Non-Ketotic Hyperglycinemia

    30 members

    Non-Ketotic Hyperglycinemia is a rare autosomal recessive metabolic disorder characterized by abnormally high levels of the amino acid glycine.

  • Nontuberculous Mycobacteria

    3 members

    Nontuberculous Mycobacteria is a bacteria that is found in water, some domestic and wild animals, and soil. NTM is a primary cause of respiratory disease in humans and is a leading cause of death i...

  • Noonan Syndrome

    4 members

    Those diagnosed with Noonan Syndrome have the same life expectancy as the average individuals. However, depending on the severity of the symptoms and heart conditions that arrive with Noonan Syndr...

  • Normal Pressure Hydrocephalus

    members

    Normal Pressure Hydrocephalus is a neurological condition characterized by the increase in intracranial pressure due to accumulation of cerebrospinal fluid.

  • Norman-Roberts Syndrome

    members

    Norman-Roberts syndrome is a rare disorder affecting the brain caused by a mutation in the reelin gene.

  • Norrie Disease

    members

    Norrie Disease is a rare genetic disorder caused by mutations in the NDP gene.

  • Ochoa Syndrome

    4 members

    Ochoa Syndrome is a rare inherited disorder characterized by inverted facial expressions.

  • Ocular Convergence Spasm

    1 members

    Ocular Convergence Spasm is a rare disorder where the eyes turn towards each other.

  • Ocular Melanoma

    3 members

    Ocular Melanoma is a rare type of melanoma of the eye.

  • Oculocutaneous Albinism

    7 members

    Oculocutaneous Albinism is a rare disorder characterized by a partial or total lack of melanin pigment in the eyes, skin and hair.

  • Oculodentodigital Syndrome

    3 members

    Oculodentodigital Syndrome is a rare genetic disorder resulting in small eyes, underdeveloped teeth, and malformation of the fourth and fifth fingers.

     

     

  • Oculofaciocardiodental Syndrome

    7 members

    Oculofaciocardiodental Syndrome is a rare disorder causeed by the deletion of the BCOR gene affecting the eyes, face, teeth, and heart.

  • Oculopharyngeal Muscular Dystrophy

    1 members

  • Ohdo Syndrome

    4 members

    Ohdo Syndrome is a rare disorder characterized by learning disabilities associated with congenital heart disease, blepharophimosis (small eye openings), blepharoptosis (drooping eyelids), and small...

  • Olivopontocerebellar Atrophy

    7 members

    Olivopontocerebellar Atrophy (OPCA) is a term used to define neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.

  • Ollier's Disease

    3 members

    Ollier's Disease is a disorder when multiple sites in the body develop cartilage cyst found in the bone marrow.

  • Omphalocele

    2 members

  • Ondine syndrome

    members

    Ondine syndrome is a rare respiratory disorder that is fatal if untreated.

  • Opitz BBB/G Syndrome

    5 members

    Opitz G/BBB Syndrome is a genetic disorder caracterized by wide-spaced eyes; and breathing problems and difficulty swallowing.

  • Optic Atrophy 1

    1 members

    Optic Atrophy 1 is a rare disorder characterised by early onset of visual impairment.

  • Oral Lichen Planus

    8 members

    Oral Lichen Planus is an inflammatory condition affecting the lining of the mouth. It occurs most often on the inside of the cheeks, but can affect the gums, tongue, lips and other parts of the mou...

  • Ornithine Transcarbamylase Deficiency

    7 members

    Ornithine Transcarbamylase Deficiency is a rare metabolic disorder the affects the enzyme ornithine transcarbamylase and the body's ability to get rid of ammonia.

     

     

  • Orofaciodigital Syndrome

    1 members

  • Orotic Aciduria Hereditary

    3 members

    Orotic Aciduria Hereditary is a rare metabolic disorder characterized by the body's inability to break down orotic acid.

  • Osteochondritis Dissecans

    5 members

    Osteochondritis Dissecans is a rare joint disorder in which cracks form in the articular cartilage and underlying subchondral bone.

  • Osteogenesis Imperfecta

    7 members

    Osteogenesis Imperfecta is a rare bone disease where individuals are born without the proper protein (collagen) or the ability to make it. This makes the bones very fragile.

  • Osteoporosis pseudoglioma syndrome

    2 members

    Osteoporosis pseudoglioma syndrome is a rare genetic disorder characterized by severe juvenile onset of osteoporosis and vision loss resulting from retinal detachment due to an inflammatory eye con...

  • Osteosarcoma

    1 members

  • Ouvrier-Billson Syndrome

    6 members

    Ouvrier-Billson Syndrome usually shows up in an infant before the age of 12 months and is characterized by eyes drifting up in an upward gaze and fluttering. The child compensates by lowering their...

  • Pachygyria

    42 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.

  • Paget's Bone Disease

    4 members

    By Mayo Clinic staff

     

     

    Paget's Bone Disease is a rare chronic disorder resulting in enlarged and misshapen bones. Excessive breakdown and formation of bone tissue causes affe...

  • 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

    5 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

    24 members

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

  • Peripheral Neuropathy

    14 members

    Peripheral Neuropathy is damage to nerves of the peripheral nervous system.

  • 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.

  • Pick's Disease

    5 members

    Pick's Disease is a rare neurodegenerative disease.

  • 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

    5 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

    6 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

    7 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.

  • Polymorphic catecholergic ventricular tachycardia

    members

  • Polymyalgia Rheumatica

    7 members

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

  • Polymyositis

    30 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.

  • Post-Transplant Lymphoproliferative Disorder

    members

    Post-Transplant Lymphoproliferative Disorder is a rare a group of B cell lymphomas occurring in immunosuppressed patients following organ transplant.

  • 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)

    12 members

    Primary Biliary Cholangitis is a rare autoimmune disease of the liver characterized by the slow progressive destruction of the liver's small bile ducts.  It is a chronic disease meaning...

  • Primary Ciliary Dyskinesia

    13 members

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

  • Primary Fallopian Tube Cancer

    1 members

    Primary Fallopian Tube Cancer is a malignant neoplasm that originates in the fallopian tube.

  • 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

    6 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

    12 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

  • Rabson-Mendenhall Syndrome

    1 members

    Rabson-Mendenhall Syndrome is a rare disorder characterized by severe insulin resistance, developmental abnormalities, and hyperpigmentation of parts of the skin.

  • Radiation Proctitis

    1 members

    Radiation Proctitis is inflammation and damage to the lower parts of the colon after exposure to x-rays or other ionizing radiation as a part of radiation therapy.

  • Radioulnar Synostosis

    10 members

    Radioulnar Synostosis is the abnormal development of the radio-ulnar joint.

  • Rambam Hasharon Syndrome

    members

    Rambam Hasharon Syndrome is a rare genetic disorder.

  • Ramsay Hunt Syndrome Type 2

    2 members

    Ramsay Hunt Syndrome Type 2 results from nerve damage caused by shingles in the ear, causing facial paralysis and damage to the 7th cranial nerve causing severe headaches.

  • Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation

    12 members

    Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation is a rare disorder that affects the governance of proper breathing.

  • Rasmussen's Encephalitis

    2 members

    Rasmussen's Encephalitis is a rare inflammatory neurological disorder which typically affects children under the age of 15 and is characterized by frequent and severe seizures, loss of motor skills...

  • Raynaud's Disease

    23 members

    Raynaud's Disease is a disorder characterized by some areas of the body, including fingers, toes, the nose, and ears to feel numb and cool in response to cold temperatures or stress.

  • Reactive Arthritis

    4 members

    Reactive Arthritis is an autoimmune condition due to an infection in another part of the body.

  • Recurrent Pericarditis

    3 members

    Pericarditis is a condition caused by the inflammation of the lining surrounding the heart.

  • Refractory Sprue

    1 members

    Refractory Sprue is a rare autoimmune disorder similar to celiac disease but resistant or unresponsive to a gluten-free diet.

  • Refsum's Disease

    1 members

    Refsum's Disease is a rare neurological disease resulting in the malformation of myelin sheaths around nerve cells.

  • Relapsing Polychondritis

    18 members

    Relapsing polychondritis is a rare disorder characterized by the deterioration of the cartilage.

     

     

     

  • Renal Cell Carcinoma, Subtype Chromophobe

    2 members

    Renal Cell Carcinoma, Subtype Chromophobe account for roughly 4% of all renal cell carcinomas, a type of kidney cancer.

  • Rendu-Osler-Weber Disease

    3 members

    Rendu-Osler-Weber Disease is a rare genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and organs.

  • Renpenning's Syndrome

    2 members

    Renpenning's Syndrome is a rare developmental disorder characterized by a regression in mental and physical development in early childhood.

  • Restrictive Cardiomyopathy

    3 members

    Restrictive Cardiomyopathy is a rare form of cardiomyopathy.

  • Retinitis Pigmentosa

    8 members

    Retinitis Pigmentosa is a group of genetic eye disorders in which abnormalities of the photoreceptors or the retinal pigment epithelium of the retina lead to progressive retinal dystrophy.

  • Retinoblastoma

    members

    Retinoblastoma is a rare form of cancer which develops in the cells of the retina.

  • Retroperitoneal Fibrosis

    8 members

    Retroperitoneal Fibrosis is an ideopathic auto-immune disorder that causes scar tissue to form in the the abdomen and wrap itself around the abdominal aorta. It can grow in thickness and length, an...

  • Rett Syndrome

    6 members

    Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. Rett syndrome has been most often misdiagnosed ...

  • RGI Demo Community

    1 members

    RGI Demo Community

     

     

    Here is where we edit the community

  • Rheumatic fever

    3 members

  • Rheumatoid Factor-Negative Polyarthritis

    5 members

  • Rheumatoid Factor-Positive Polyarthritis

    5 members

    Rheumatoid Factor-Positive Polyarthritis is a rare juvenile idiopathic arthritis.

  • Rheumatoid Purpura

    3 members

    Rheumatoid Purpurais a rare form of vasculitis that affects mostly the skin, kidneys, joints and stomach.

  • Rhizomelic Chondrodysplasia Punctata

    members

    Rhizomelic Chondrodysplasia Punctata is a rare disorder characterized by dwarfism due to shortening of the proximal bones.

  • Rickets

    3 members

    Rickets is a softening of the bones in children potentially leading to fractures and deformity.

  • Rocky Mountain Spotted Fever

    3 members

    Rocky Mountain Spotted Fever is caused by a bacterium spread through ticks.

  • Rubinstein-Taybi Syndrome

    10 members

    Rubinstein-Taybi Syndrome is a rare disorder characterized by short stature, learning difficulties distinctive facial features, and broad thumbs and first toes.

  • Sacral Agenesis

    4 members

    Sacral Agenesis is a rare spinal deformity affecting the sacrum.

  • Sacrococcygeal Teratoma

    1 members

    Sacrococcygeal Teratoma tumor located at the base of the tailbone.

  • Saethre-Chotzen Syndrome

    1 members

  • Salivary Gland Cancer

    members

    Salivary Gland Cancer is a rare form of cancer in the salivary glands.

  • Sandhoff Disease

    members

    Sandhoff Disease is a rare genetic lipid storage disorder.

  • Sanfilippo Syndrome

    5 members

    Sanfilippo Syndrome is a rare autosomal recessive metabolic disorder characterized by severe neurological symptoms.

  • SAPHO Syndrome

    19 members

    SAPHO Syndrome is a disorder characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis.

  • Sarcoidosis

    37 members

    Sarcoidosis is a rare immune system disorder characterized by non-caseating granulomas which most often appear in the lungs or the lymph nodes.

  • Sarcosinemia

    members

    Sarcosinemia is a rare disorder characterized by increased sarcosine in the blood plasma and urine.

  • Schamberg Disease

    2 members

    Schamberg Disease is a chronic discoloration of the skin, most commonly affecting the legs.

  • Schinzel-Giedion Syndrome

    2 members

    Schinzel-Giedion Syndrome is a rare congenital neurodegenerative disorder.

  • Schizencephaly

    7 members

    Schizencephaly is a rare cortical malformation of the brain.

  • Schnitzler Syndrome

    3 members

    Schnitzler Syndrome is a rare disease characterised by chronic hives.

  • Schwannomatosis

    10 members

    Schwannomatosis is a rare disorder affecting the peripheral nervous system where benign tumors called schwannomas grow on perippheral nerves.

  • Scleroderma

    27 members

    Sclerodrema, also known as systemic sclerosis is a chronic disease in which there are excessive deposits of collagen in various organs.

  • Scleromyxedema

    24 members

    Scleromyxedema is a condition of mucinous deposition in the skin associated with monoclonal gammopathy characterized by a flesh-colored, papular skin eruption. The average age onset is 55 years and...

  • Sclerosing Mesenteritis

    5 members

    Sclerosing Mesenteritis is a rare disorder caused when the small bowel's membranes become inflamed and fibrous resulting in an abdominal mass.

  • Secondary Adrenal Insufficiency

    1 members

    Secondary Adrenal Insufficiency is adrenal hypofunction caused by a lack of ACTH.

  • Senior-Loken syndrome

    1 members

  • Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis

    1 members

    Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis is a rare disorder characterized by progressive ataxia in addition to eye muscle and speech problems.

  • Septo-Optic Dysplasia

    13 members

    Septo-Optic Dysplasia is a malformation resulting in the underdevelopment of the optic nerve, hypopituitarism, and absence of the septum pellucidum.

  • Serpiginous Choroiditis

    5 members

    Serpiginous Choroiditis is a rare inflammatory disease of the retina.

  • Sertoli Cell-only Syndrome

    1 members

    Sertoli cell-only syndrome is a rare disorder characterized by male sterility without sexual abnormality due to the absence of seminiferous tubules in the testes of germinal epithelium, while Serto...

  • Sertoli-Leydig Cell Tumor

    3 members

    Sertoli-Leydig Cell Tumor is a rare ovarian tumor belonging to the group of sex-chord stromal tumors.

  • Sever's Disease

    1 members

    Sever's Disease is a heal disorder caused by overuse and/or repetitive micro trauma of growth plates of the calcaneus in the heel.

  • Severe Combined Immunodeficiency

    3 members

    Severe Combined Immunodeficiency is a rare genetic disorder in which both the B cells and T cells of the immune system are crippled.

  • Severe Congenital Neutropenia

    3 members

    Severe Congenital Neutropenia is a blood disorder characterized by an abnormally low number of a specific type of white blood cells, neutrophils.

  • Shapiro Syndrome

    2 members

    Shapiro Syndrome is a rare disorder characterized by occurances of hypothermia.

  • Sheehan's Syndrome

    6 members

    Sheehan's Syndrome is hypopituitarism during and after childbirth.

     

     

  • Short Bowel Syndrome

    6 members

    Short Bowel Syndrome is a disorder causing malabsorption due to the surgical removal of the small intestine or a congenital short bowel.

  • Shprintzen-Goldberg Syndrome

    7 members

    Shprintzen-Goldberg syndrome is a disorder associated with premature closure of sutures of the skull and marfanoid habitus.

  • Shwachman-Diamond Syndrome

    1 members

    Shwachman-Diamond Syndrome is a rare disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature.

  • Sialidosis

    4 members

    Sialidosis is a rare disorder resulting from a deficiency of the digestive enzyme sialidase.

     

     

  • Sickle Cell Anemia

    5 members

    Sickle cell anemia is a blood disorder characterized by red blood cells that assume a rigid, sickle shape.

  • Sideroblastic Anemia

    members

    Sideroblastic Anemia is a rare disorder caused by the abnormal production of red blood cells in conjunction with sideroblasts.

  • Silver-Russell Dwarfism

    4 members

    Silver-Russell dwarfism is a treatable growth disorder.

  • Simpson-Golabi-Behmel Syndrome

    2 members

    Simpson-Golabi-Behmel Syndrome is a rare genetic disorder with varying symptoms which may include craniofacial and other abnormalities.

     

  • Sirenomelia

    1 members

    Sirenomelia is a rare congenital disorder in which the legs are fused together, giving the appearance of a mermaid.

  • Situs Inversus

    8 members

    Situs Inversus is a congenital condition in which the major visceral organs are reversed from their normal positions.

  • Sjogren-Larsson Syndrome

    2 members

    Sjogren-Larsson Syndrome is a rare disorder characterized by dry, rough skin and stiff, rigid muscles.

  • Sjögren's Syndrome

    33 members

    Sjögren's Syndrome is a rare autoimmune disorder in which the body attacks moisture-producing glands throughout the body as well as connective tissue.

     

  • Small Cell Lung Cancer

    2 members

  • Small-Cell Ovarian Cancer

    3 members

    Small-Cell Ovarian Cancer is a rare aggressive tumor.

  • Smith-Lemli-Opitz syndrome

    1 members

    Smith-Lemli-Opitz syndrome is a metabolic and developmental disorder that affects many parts of the body.

     

  • Smith-Magenis Syndrome

    4 members

    Smith-Magenis Syndrome is a rare disorder characterized by abnormal physical, developmental and behavioral features due to microdeletion of chromosome 17.

  • Sneddon's Syndrome

    25 members

    Sneddon's Syndrome is a rare disorder of the arteries leading to purplish mottled skin (especially in the cold) and severe but transient neurological symptoms. It is generally understood to be a c...

  • Soft Tissue Sarcoma

    9 members

    Soft Tissue Sarcoma is a rare type of cancer that develops in mesenchymal tissue, including muscles, connective tissues, and bones.

  • Sotos Syndrome

    3 members

    Sotos Syndrome is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life.

  • Spastic Paraplegia

    6 members

    Spastic Paraplegia is a group of genetic disorders characterized by progressive spasticity in the lower limbs.

  • Spina Bifida

    2 members

    Spina Bifida congenial disorder caused by the incomplete closure of the embryonic neural tube.

  • Spinal Cord Infarction

    3 members

    Spinal Cord Infarction is injury to the spinal cord due to oxygen deprivation.

  • Spinal Muscular Atrophy

    8 members

    Spinal Muscular Atrophy is a group of rare muscle disorders in which the muscles become progressively weakdue to damage to motor neurons.

  • Spinocerebellar Ataxia

    10 members

    Spinocerebellar Ataxia is a progressive group of rare disorders affecting muscle movements.

  • Spinocerebellar Ataxia Type 6

    1 members

    Spinocerebellar Ataxia Type 6 is a rare disorder characterized by dysarthria, oculomotor disorders, incontinence, peripheral neuropathy, and ataxia of gait, stance and the limbs due to cerebellar d...

  • Split-Hand/Split-Foot Malformation

    4 members

    Split-Hand/Split-Foot Malformation is a rare autosomal dominant disorder characterized by congenital deformity of the hand where the middle digit is missing.

  • Spondylometaphyseal dysplasia

    2 members

  • Squamous Cell Carcinoma

    1 members

    Squamous cell carcinoma is a form of cancer of the carcinoma type that may occur in many different organs, including the skin, lips, mouth, esophagus, urinary bladder, prostate, lungs, vagina, and ...

  • Stargardt Disease

    1 members

    Stargardt Disease is a rare inherited genetic disorder causesing progressive vision loss due to macular degeneration.

  • Steroid-Sensitive Nephrotic Syndrome

    2 members

    Steroid-Sensitive Nephrotic Syndrome is a rare kidney disease.

  • Stickler Syndrome

    1 members

    Stickler Syndrome is a group of genetic disorders affecting collagen.

  • Stiff-Man Syndrome

    12 members

    Stiff-Man Syndrome is a rare neurological disorder characterized by progressively severe muscle stiffness, most commonly in the spine and lower extremities.

  • Superficial Siderosis

    3 members

    Superficial Siderosis is a rare disorder causing bleeding into the spinal column that ultimately breaks down in the cerebellum and erodes myelin tissue.

  • Superior Canal Dehiscence Syndrome

    2 members

    Superior Canal Dehiscence Syndrome is a rare medical condition of the inner ear leading to hearing and balance disorders in those affected. Symptoms are caused by a thinning or absence of the part ...

  • Supraventricular tachycardia

    3 members

    Supraventricular tachycardia is a heart disorder characterized by an abnormal fast heart rhythm.

  • Susac's syndrome

    10 members

    Susac's syndrome is a rare disease affecting small blood vessels in the body characterized by encephalopathy, branch retinal artery occlusions, and hearing loss.

  • Sydenham's Chorea

    4 members

    Sydenham's Chorea is a disease characterized by rapid, uncoordinated jerking movements affecting primarily the face, feet and hands.

  • Sympathetic Ophthalmia

    members

    Sympathetic Ophthalmia is an inflammation of both eyes following trauma to one eye.

  • Syringomyelia

    128 members

    Syringomyelia (Sear-IN-Joe-My-E-Lee-Uh), or "SM", is a chronic disorder of the spinal cord which consists of the formation of a syrinx (a pocket of cerebral-spinal fluid sometimes referred to as a...

  • Systemic Capillary Leak Syndrome

    331 members

    Systemic Capillary Leak Syndrome (SCLS) is an exceedingly rare, life- and limb-threatening disorder characterized by acute and severe recurrent attacks featuring a rapid fall in blood pressure d...

  • Systemic Lupus Erythematosus

    25 members

    Systemic Lupus Erythematosus is an autoimmune disease in which the immune system cannot tell the difference between unhealthy and healthy cells.

     

  • Systemic Mastocytosis

    11 members

    Systemic Mastocytosis is a rare disorder involving the internal organs characterized by the presence of too many mast cells.

  • Systemic Onset Juvenile Rheumatoid Arthritis

    1 members

  • Systemic Vasculitis

    9 members

    Systemic Vasculitis is a disorder characterized by the inflammation of the wall of blood vessels.

  • Takayasu Arteritis

    9 members

    Takayasu Arteritis is a rare form of vasculitis characterized by inflammation that damages large and medium-sized blood vessels.

  • Talipes equinovarus

    1 members

    Talipes equinovarus is a rare birth defect where the foot is twisted in and down.

  • TAR Syndrome

    2 members

    TAR Syndrome is a rare genetic disorder causing the absence of the radius bone in the forearm in addition to a dramatically reduced platelet count.

  • Tarlov Cyst

    69 members

    Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can ...

  • Tay-Sachs Disease

    1 members

    Tay-Sachs Disease is a rare genetic Lysosomal Storage Disease causing deterioration of mental and physical abilities.

  • Temporal Lobe Epilepsy

    2 members

    Temporal Lobe Epilepsy a neurological disorder characterized by recurrent seizures.

  • Tendinitis

    2 members

    Tendinitis is an inflammation of a tendon involving larger-scale acute injuries accompanied by inflammation.

  • test-april

    1 members

    test1

  • test-community

    4 members

  • test-march

    2 members

    test community

  • test-may

    1 members

  • Tethered Spinal Cord Syndrome

    3 members

    Tethered Spinal Cord Syndrome is a rare disorder caused by tissue attachments, limiting the movement of the spinal cord within the spinal column.

  • Tetralogy of Fallot

    3 members

    Tetralogy of Fallot is a congenial heart defect identified by four key features: a ventricular septal defect; pulmonic stenosis; overriding aorta; and ventricular hypertrophy.

  • Tetrasomy 18p

    6 members

    Tetrasomy 18p is a rare genetic disorder caused by the addition of an isochromosome of the short arm of chromosome 18.

  • Thalassemia

    8 members

    Thalassemia is a rare inherited disorder characterized by a reduced rate of synthesis of one of the globin chains that make up hemoglobin.

  • Thanatophoric Dwarfism

    5 members

    Thanatophoric Dwarfism is a rare disorder resulting from a defect in the fibroblast growth factor-3 gene.

  • Thrombophilia

    13 members

    Thrombophilia is the propensity to develop blood clots.

  • Thyrotoxic Periodic Paralysis

    members

    Thyrotoxic Periodic Paralysis is a rare disorder characterized by abrupt onset of hypokalemia and paralysis.

  • Tibial Muscular Dystrophy

    members

  • TNF Receptor Associated Periodic Syndrome

    12 members

    TNF Receptor Associated Periodic Syndrome (TRAPS) is a rare disorder characterized by periods of fever and chills along with abdominal pain, nausea and vomiting, appendicitis-like bowel obstruction...

  • Tolosa-Hunt Syndrome

    3 members

    Tolosa-Hunt Syndrome is a rare disorder characterized by headaches, along with weakness and paralysis of particular eye muscles.

  • Toriello-Carey Syndrome

    5 members

    Toriello-Carey Syndrome is a rare disorder affecting around 40 people. It is a genetic disorder that causes mutation of the cells in the center of the body.

  • Tourette Syndrome

    2 members

    Tourette Syndrome is an genetic neuropsychiatric disorder characterized by multiple physical tics and at least one vocal tic.

  • Townes-Brocks Syndrome

    4 members

    Townes-Brocks Syndrome is a rare genetic disorder characterized by a mutation of the gene SALL1.

  • Toxic Shock Syndrome

    1 members

    Toxic shock syndrome is a rare disorder caused by a variety of bacterial toxins.

  • Tracheoesophageal Fistula

    members

    Tracheoesophageal Fistula is an abnormal connection between the esophagus and the trachea.

  • Tracheomalacia

    11 members

    Tracheomalacia is a rare disorder characterized by the weakening for the tracheal support cartilage causing tracheal collapse.

  • Transverse Myelitis

    9 members

    Transverse Myelitis is a neurological disorder causing axonal demyelination.

  • Traumatic Brain Injury

    2 members

    Traumatic brain injury occurs when physical trauma injures the brain.

  • Treacher Collins Syndrome

    members

    Treacher Collins Syndrome is a rare genetic disorder causing craniofacial deformities.

  • Tricho-Hepato-Enteric Syndrome

    4 members

    Tricho-Hepato-Enteric Syndrome (THE) is a rare congenital bowel disorder characterized by intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities.

  • Trichorhinophalangeal Syndrome Type 1

    7 members

    Trichorhinophalangeal Syndrome Type 1 is a rare inherited multisystem disorder characterized by unusual facial features and abnormalities of the epiphyses of the bones in the hands and feet.

  • Tricuspid Atresia

    members

    Tricuspid Atresia is a congenital heart defect of the tricuspid valve that limits blood flow to the ventricle and to and from the lungs. People born with it are sometimes called "blue babies" becau...

  • Trigeminal Neuralgia

    8 members

    Trigeminal Neuralgia is a disorder of the trigeminal nerve that causes periods of intense pain in the eyes, lips, nose, scalp, forehead, and jaw.

  • Trimethylaminuria

    13 members

    Trimethylaminuria is a rare metabolic disorder that causes a defect in the normal production of the enzyme Flavin.

  • Triple A Syndrome

    5 members

    Triple A Syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima.

  • Triple X Syndrome

    11 members

    Triple X Syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female.

  • Trismus-Pseudocamptodactyly Syndrome

    7 members

    Trismus-Pseudocamptodactyly Syndrome is a rare genetic disorder characterized by the inability to completely open the mouth and abnormally short muscle-tendon units in the fingers.

  • Trisomy 11

    3 members

    Duplication of all or part of Chromosome 11, with or without a translocation of the duplicated material onto another chromosome. Individuals with chromosome disorders often have developmental delay...

  • Trisomy 13

    2 members

    Tisomy 13 is caused by an additional chromosome 13 which disrupts the normal course of development.

  • Trisomy 18

    3 members

    Trisomy 18 is a rare genetic disorder caused by the presence of all or part of an extra 18th chromosome.

  • Trisomy 2 Mosaicism

    1 members

    Trisomy 2 Mosaicism is a rare chromosomal disorder where duplication of a portion of chromosome 2 causes various abnormalities.

  • Trisomy 8 Mosaicism

    2 members

    Trisomy 8 Mosaicism is a rare chromosomal disorder characterized by three copies of chromosome 8.

  • Trisomy 9

    4 members

    Trisomy 9 is a rare chromosomal disorder characterized by three copies of chromosome number 9. It can appear with or without mosaicism.

     

     

  • Trisomy 9q32

    members

    Trisomy 9q32 is a rare genetic disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature, mental retardation and facial anomalies.

  • Tritanopia

    members

    Tritanopia is a rare disorder characterized by the total absence of blue retinal receptors.

  • Tuberculosis

    1 members

    Tuberculosis is a deadly infectious disease caused by the bacterium Mycobacterium tuberculosis.

  • Tuberculous Meningitis

    members

    Tuberculous Meningitis is an infection of the central nervous system.

  • Tuberous Sclerosis

    6 members

    Tuberous Sclerosis is a rare genetic disorder characterized by benign tumors in the brain.

  • Tubular Aggregate Myopathy

    28 members

    Tubular Aggregate Myopathy is a rare primary myopathy. The commonest form mainly affects middle aged males and is not inherited. Other forms affect both sexes and may be inherited.

  • Tumoral Calcinosis

    1 members

    Tumoral Calcinosis is a rare disorder resulting in the calcification of nodules in soft tissue around joints. As the nodules become larger they can cause pain.

  • Turner Syndrome

    5 members

    Turner Syndrome is a rare disorder affecting females in which all or part of one of the X chromosomes is missing.

  • Tyrosinemia Type 1

    5 members

  • Ulcerative Colitis

    5 members

    Ulcerative Colitis is a disease of the intestine that includes characteristic ulcers, or open sores, in the colon.

  • Ulnar Mammary Syndrome

    members

    Ulnar Mammary Syndrome is a rare genetic disorder caused by mutations in TBX3 and characterized by hypoplasia or aplasia of upper limbs on the ulnar side, mammary glands and nipples.

  • Undiagnosed

    41 members

    This community is for individuals with an undiagnosed medical disorder. Please post your comments, questions and symptoms in the forum section.

  • Unverricht-Lundborg Disease

    2 members

    Unverricht-Lundborg Disease is a raregenetic epilepsy disorder.

  • Urethral Cancer

    1 members

    Urethral Cancer is a rare form of cancer originating in the urethra.

  • Urticarial Vasculitis

    14 members

    An inflammation of the blood cells under the skin. Leaving bruising and possible swelling after an outbreak of urticarial.

  • Usher syndrome

    5 members

    Usher syndrome is a rare genetic disorder characterized by deaf-blindness due to a genetic mutation.

  • Uveitis

    4 members

    Uveitis is inflammation of the middle layer of the eye.

  • Vaginal Cancer

    3 members

    cancer that originates in the vaginal wall. also vulver cancer - involves the outer gentials like the labia and clitoris.

  • Van Der Woude Syndrome

    1 members

    Van Der Woude syndrome is a rare disorder characterized by a cleft lip, isolated cleft palate, pits or mucous cysts on the lower lip, and hypodontia.

  • Vasovagal Syncope

    6 members

    Vasovagal Syncope is disorder characterized by fainting due to a sudden drop in blood pressure.

  • VATER Association

    5 members

    VATER/VACTERL Association is a nonrandom association of birth defects.

  • Vesicoureteral Reflux

    1 members

    Vesicoureteral Reflux is the reversed movement of urine from the bladder into ureters or kidneys.

     

  • Viljoen Smart Syndrome

    members

  • Von Hippel-Lindau Disease

    7 members

    Von Hippel-Lindau disease is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply.

  • Von Willebrand Disease

    6 members

    Von Willebrand Disease is a type of hemophilia.

  • Vulvar Cancer

    2 members

    Vulvar Cancer is a malignant growth in the vulva.

  • Waardenburg Syndrome

    10 members

    Waardenburg Syndrome is a group of genetic conditions involving pigment and hearing loss.

     

     

    Pigment anomelies for this condition include Vitiligo (patches of non-pigmented s...

  • WAGR Syndrome

    2 members

    WAGR Syndrome is a rare genetic syndrome caused by the deletion of part of chromosome 11 resulting in Wilms tumor (a tumor of the kidneys), Aniridia (absence of the colored part of the eye, the iri...

  • Waldenstrom Macroglobulinemia

    6 members

    Waldenstrom Macroglobulinemia is a rare form of cancer involving lymphocytes (a subtype of white blood cells).

  • Walker-Warburg Syndrome

    2 members

    Walker-Warburg syndrome is a rare form of autosomal recessive congenital muscular dystrophy.

  • Warburg Micro Syndrome

    1 members

    Warburg Micro Syndrome is a rare disorder consisting of polymicrogyria, cataracts, microphthalmia, optic atrophy, and endocrine systemnabnormalities.

  • Wegener's Granulomatosis

    10 members

    Wegener's Granulomatosis is a rare form of vasculitis characterized by inflamed blood vessels that limit blood flow to the effected organs and destroy normal tissue.

     

  • Werner Syndrome

    3 members

    Werner Syndrome is a rare genetic disorder characterized by premature aging.

  • West Syndrome

    2 members

    West Syndrome is a rare form of epilepsy in infants.

  • Whipple Disease

    2 members

    Whipple disease results from a bacterial infection known as Tropheryma whippelii.

  • Williams Syndrome

    6 members

    Williams syndrome is a rare disorder caused by a deletion of genes from the long arm of chromosome 7.

  • Wilms' Tumor

    members

    Wilms' Tumor is a tumor of the kidneys.

  • Wilson's Disease

    5 members

    Wilson's Disease is a rare genetic disorder in which copper accumulates in tissues.

  • Wiskott-Aldrich Syndrome

    1 members

  • Wolf-Hirschhorn Syndrome

    8 members

    Wolf-Hirshhorn Syndrome is the result of partial deletion of the short arm of chromosome 4, resulting in various physical and mental conditions.

  • Wolfram Syndrome

    1 members

    Wolfram Syndrome is a rare genetic disorder characterized by diabetes mellitus, optic atrophy, and deafness.

  • Wolman Disease

    1 members

    Wolman Disease is a rare form of lipid storage disease.

  • X Chromosome Duplication

    11 members

    X Chromosome Duplication is the duplication of chromosome X between Xq27.2 and Xq28.

  • X-Linked Agammaglobulinemia

    1 members

    X-Linked Agammaglobulinemia is a rare X-linked genetic disorder that affects the body's ability to fight infection.

  • X-linked Alpha Thalassemia Mental Retardation Syndrome

    1 members

    X-linked Alpha Thalassemia Mental Retardation Syndrome is a rare inherited disorder affecting multiple body functions including intellectual development and muscle development.

  • X-linked Congenital Stationary Night Blindness

    2 members

    X-linked Congenital Stationary Night Blindness is a rare genetic non-progressive retinal disorder.

  • X-linked Dominant Chondrodysplasia Punctata

    1 members

    X-linked Dominant Chondrodysplasia Punctata is a rare genetic disorder affecting skeletal development and characterized by abnormal accumulations of calcium salts within the growing ends of long b...

  • X-linked Hypophosphatemia

    4 members

    X-linked Hypophosphatemia is an rare genetic form of rickets in which the ingestion of Vitamin D is relatively ineffective.

  • X-Linked Ichthyosis

    6 members

    X-Linked Ichthyosis is a rare skin disorder caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme.

  • X-Linked Lymphoproliferative Disease

    16 members

    X-Linked Lymphoproliferative Disease is a rare genetic immunodeficiency disorder characterized by an underactive or overactive immune system.

  • X-linked Ocular Albinism

    members

    X-linked Ocular Albinism is a rare form of albinism that presents primarily in the eyes.

  • Xeroderma Pigmentosum

    2 members

    Xeroderma Pigmentosum is an rare genetic disorder causing the inability to repair damage caused by ultraviolet light.

  • XX Gonadal Dysgenesis

    4 members

    XX Gonadal Dysgenesis is a disorder of the female reproductive system in which functional ovaries are not present to induce puberty.

  • XX Male Syndrome

    5 members

    XX Male Syndrome is a rare sex chromosomal disorder.

  • Yellow Nail Syndrome

    3 members

    Yellow Nail Syndrome is a rare disorder that includes pleural effusions, lymphoedema and yellow nails.

  • Young's Syndrome

    members

    Young's Syndrome is a rare disorder characterized by a combination of syndromes such as bronchiectasis, rhinosinusitis and reduced fertility.

  • Yunis-Varon Syndrome

    members

    Yunis-Varon Syndrome is a rare disorder affecting the skeletal system, ectodermal tissue and cardiorespiratory systems.

  • Zellweger Syndrome

    5 members

    Zellweger Spectrum Disorders (ZSD) are also referred to as Peroxisomal Biogeneis Disorders (PBD) which include: Zellweger Syndrome (ZS), Neonatal Adrenoleukodystrophy (NALD) and Infantile Refsum Di...

  • Zimmermann-Laband Syndrome

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    Zimmermann–Laband Syndrome is an extremely rare autosomal dominant congenital disorder characterized by gingival fibromatosis, nail dysplasia, joint hypermobility, and hepatosplenomegaly.

  • Zollinger-Ellison Syndrome

    4 members

    Zollinger-Ellison Syndrome is a rare disorder characterized by tumors in the pancreas and/or duodenum causing the stomach to make too much acid.

  • Zuska's Disease

    4 members

    Zuska's Disease is a rare disorder characterized by draining abscesses around the nipple.