Each human cell stores its genetic material (DNA) in chromosomes. All normal human cells have 23 pairs of chromosomes with the exception of sperm or egg cells that have 23 single chromosomes. Al...

Chromosome 13q deletion is a rare genetic disorder in which a piece of genetic material from the long arm (q) of one of the two chromosome 13s is missing. The symptoms and severity of the disord...

A rare disease known as 14q21.3 deletion syndrome is caused by a lack of genetic information at this chromosome location. Genes are the blueprint for everything that the body needs to ...

15q26 deletion is a genetic condition in which a small piece of DNA (genetic material) is missing from one of the 46 chromosomes, specifically from the q (long arm) of chromosome 15.  Depen...

Pieces of genetic information copied and inserted into the wrong place can lead to a rare disease. 16p13.11 microduplication syndrome is caused by the duplication of a region of chromosome 16, l...

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

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 ...

Each human cell contains 23 pairs of chromosome, which are structures made up of DNA that carry genetic information. Each person receives one copy of each chromosome from each parent, ...

Loss of genetic information at key genomic locations can lead to disease.  22q11.2 deletion syndrome is caused by the deletion of a region of chromosome 22 at a designated position called q...

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

Loss of genetic information at key genomic locations can lead to disease. 3p25 deletion syndrome is a condition resulting from the deletion of a small portion of DNA at the terminal re...

3q29 deletion syndrome is a rare genetic disorder caused by the loss of a small piece of DNA from the long arm of chromosome 3. The manifestations of the disease are different depending on the p...

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

4q33 Deletion a rare disorder caused by a partial deletion of chromosome 4. It is terminal deletion on the long arm (q) of chromosome 4. Symptom manifestation depends on where and how much of ch...

Aagenaes syndrome, also known as lymphedema-cholestasis syndrome (LCS), is a rare genetic disease affecting the liver and is characterized by a reduced size and number of the lymph ves...

Aarskog-Scott syndrome is a rare disease that results in developmental abnormalities in the body, such as shortened stature, abnormal facial features, and limb and genital abnormalities. This ra...

Aase syndrome is a rare disease usually diagnosed at birth from physical features that are characteristic of this disease. These include abnormal build-up of cerebrospinal fluid (CSF) ...

Abetalipoproteinemia is a rare disease that lowers the body’s ability to absorb fats from food in the intestine and mobilize it in the liver. The disease is caused by a lack of f...

The human heart is composed of four chambers: the left and right atria on top and the left and right ventricles below. Blood from the body enters the right ventricle and is then pumped through t...

The human skull consists of a number of bones that have fused together. Among these bones are the frontal bone which makes up the forehead, the temporal bones, and parietal bones which make up t...

Acanthamoeba Keratitis (AK) is a rare infection in the cornea of the eye. The cornea is a transparent layer that covers the front of the eye. A condition in which the cornea becomes inflamed is ...

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

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

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

Acheiropodia is an extremely rare genetic disorder characterized by an impaired development of the upper and lower extremities. People who suffer from acheiropodia are born without hands and fee...

Achondroplasia is the most frequent type of short limb dwarfism. It is a disorder that prevents the changing of cartilage to bone, leading to short arms and legs, limited range of elbow motion, ...

Ackerman syndrome, or Ackerman fused molar roots syndrome, is a rare disease that causes fused molar roots to develop along with other teeth and mouth abnormalities. This is a congenit...

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

Acquired hemophilia (AH) is an autoimmune disorder that affects the normal functioning of coagulation factors and prevents the blood from clotting. An autoimmune disease describes when the body&...

Acrodermatitis enteropathica is a metabolic disorder due to zinc insufficiency. Zinc is a trace element that is required for the correct function of many proteins in the body. When zinc is missi...

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

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

Acromegaly - also known as Growth Hormone-Secreting Pituitary Adenoma, Growth Hormone Excess, Somatotropic Adenoma, Somatotroph Adenoma, Somatotrophinoma, and Giant Pituitary⁶ - is a ...

Acute disseminated encephalomyelitis (ADEM) is a rare disease caused by inflammation in the brain and spinal cord that breaks down myelin and damages nerve cells and nerve impulses. To...

Acute Hepatic Porphyria (AHP) is a group of rare genetic conditions characterized by an enzyme deficiency in the liver. The different subtypes of AHP from the most common to the least common are...

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

Acute lymphoblastic leukemia is a cancer that begins in the bone marrow, which instead of producing healthy white blood cells will instead produce a high volume of transitional cells c...

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

Acute retinal necrosis (ARN) is an infection in the eye causing inflammation in the retina, a layer of cells at the back of the eye that absorb light and send signals to the brain. The retina is...

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

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

Addison´s disease is a rare endocrine or hormonal disorder characterized by a diminished production of hormones by the adrenal glands. The adrenal gl...

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

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

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

Adiposis dolorosa is a rare disorder affecting fatty tissue under the skin. Affected individuals present with fatty growths, known as lipoma, found most commonly on the torso, upper parts of the...

Adrenocortical carcinoma is a rare disease stemming from the formation of  cancerous tumors  in the outer layer of the adrenal gland, also called the adrenal cortex. In human...

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

Adrenomyeloneuropathy (AMN) is an inherited condition caused by a genetic mutation impairing the ability to metabolize very long-chain fatty acids (VLCFAs). Fatty acids are the buildin...

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 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 is a rare disorder present from birth that can affect many different organs of the body. The major organs affected include the liver, heart, spine, and eye. 

Albright hereditary osteodystrophy (AHO) is a genetic, metabolic disorder, characterized by brachydactyly (shortening of the fingers), subcutaneous calcifi...

Alexander disease is a rare disorder affecting the nervous system. It is a condition characterized by the destruction of the myelin sheath and what is called Rosenthal fibers. The myel...

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 (AT) is a condition characterized by the complete loss of hair on the scalp. It is considered to be an advanced form of Alopecia Areata (AA), a condition resulting in round patc...

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

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

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

Alport Syndrome is a progressive genetic disorder that affects kidney function and causes abnormalities of the inner ear and eye. There are 3 forms of Alpo...

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

Alternating hemiplegia of childhood (AHC) is a rare neurological disorder often caused by a mutation in ATP1A3,

Ameloblastoma is a rare, benign tumor of the mouth.

Amelogenesis Imperfecta (AI) is a group of rare disorders affecting the development of tooth enamel, either causing problems in its development or a lack of development completely. Too...

Amniotic band syndrome is a congenital syndrome. The associated symptoms of this syndrome are highly variable. There are different causes of amniotic band syndrome. An affected baby is born with...

Amyloidosis is a rare disorder characterized by the aggregation of abnormally formed or folded proteins in different organs, systems, or tissues. Amyloid refers to a protein that is necessary fo...

Amyotrophic Lateral Sclerosis (ALS) is a progressive rare neurological disease that involves the degeneration of nerve cells and motor neurons, causing the loss of control over voluntary muscles...

Anaplastic Thyroid Cancer is a form of thyroid cancer.

Ancylostomiasis-- also known as hookworm infection, is a rare parasitic disease caused by the Ancylostoma hookworms.  Infection occurs when a worm larvae enters...

Anderson-Tawil Syndrome (ATS) is a rare genetic disorder characterized by a triad of features: periodic paralysis, cardiac arrhythmias, and distinct physical anomalies. The syndrome is...

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

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

This is a community for Angiosarcoma Cancer. Of the 1.75 million new cases of cancer in the United States, there are about 3 cases per year. This community is open to Doctors, patients and loved...

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

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

Anophthalmia-syndactyly syndrome, also known as microphthalmia with limb anomalies or ophthalmoacromelic syndrome, is a rare disorder that results in malformations o...

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

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 (APS), also known as antiphospholipid antibody syndrome or Hughes syndrome, is a rare autoimmune disorder in which there are recurring epis...

Antisynthetase syndrome is a rare, chronic, inflammatory autoimmune disorder that affects the muscles and other parts of the body. An autoimmune disorder is one where the body’s own immune...

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

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

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

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

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

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

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

ARC Syndrome (Arthrogryposis-Renal Dysfunction-Cholestasis) is a rare, autosomal recessive genetic disorder characterized by limited mobility of the joints called congenital joint cont...

Arnold Chiari malformations (CM) are structural abnormalities at the base of the skull where the brain and spinal cord meet. It is a congenital or acquired...

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

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

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

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

Ewing Family of Tumors refers to a group of tumors that have similar genetic causes that lead to tumor development in bones and soft tissues. Ewing Family of Tumors includes four subty...

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

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

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 (AT)is a rare genetic disease that is characterized by progressive impairment of voluntary movement coordination (ataxia), formation of thread-like red patterns o...

Atelosteogenesis type 1 is a rare skeletal disorder that affects the development of bones throughout the body. Certain bones may be underdeveloped or absent includin...

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

Hemolytic Uremic Syndromes (HUS) are a group of conditions characterized by low red blood cells, low platelets, and kidney damage and inflammation. As a re...

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 Spectrum Disorder (ASD) is a developmental disorder that causes brain differences that impact communication and social behavior. Symptoms generally develop in the first 2-3 years of ...

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

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

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

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

Description from GARD, https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease

Autosomal dominant tubulointersti...

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

Autosomal recessive polycystic kidney disease or ARPKD is a rare genetic disease characterized by the development of cysts (sacs full of fluid) in both kidneys that can eventually lead to kidney...

Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which in...

Avascular Necrosis (AVN) also known as Osteonecrosis, is a condition resulting in the death of bone cells. Namely, when the blood flow to bone cells is greatly reduced, cells can die and this ca...

The human eye is anatomically complex, consisting of many different parts and layers that work together to produce a clear vision. The cornea, a transparent layer at the front of the e...

Baller-Gerold syndrome (BGS) is a rare genetic disorder that affects growth and development of the bones of the skull and limbs of newborn babies. A newborn baby’s head is compos...

Bangstad syndrome is an inherited congenital disorder associated with abnormalities of the cell membrane.Bangstad Syndrome is a very rare disorder that is characterized as a number of different ...

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly (an abnormally large head), multiple benign growths known as hamartomas, and developmental delay...

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

Bardet-Biedl syndrome (BBS) is an inherited condition that impacts multiple parts of the body and is characterized by a wide-range of symptoms including progressive visual impairment, ...

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

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

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 is an abnormal change in the cells of the esophagus caused by stomach acid.

Barth syndrome is a rare, genetic, neuromuscular and metabolic disorder occurring primarily in males. The disorder affects multiple systems of the body including the immune system, heart, and sk...

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 is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop prog...

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

Beals-Hecht Syndrome, also known as Congenital Contractural Arachnodactyly (CCA), is a rare genetic disorder that primarily affects the connective tissue. It is characterized by long, ...

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth and tumor predisposition syndrome that presents with a variety of clinical features including a large tongue, one-sided or general ov...

Behcet’s Disease (or Behcet’s Syndrome) is a chronic (long term) form of vasculitis, which is an inflammation of the blood vessels. Blood vessel inflamma...

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

T1F1 gene mutation 

brain- lung- thyroid 

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

Bent Spine Syndrome is the abnormal bending of the back.

Best Disease (or Best Vitelliform Macular Dystrophy) is a rare genetic disorder occurring in children that leads to progressive loss of vision. Macular dystrophy refers to a group of i...

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

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

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

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

Birdshot Chorioretinopathy is a rare progressive condition characterized by vitritis (inflammation) and multiple ovoid spots, which are typically orange in colour and hypopigmented, in the eye. ...

Birt-Hogg-Dubé Syndrome (BHDS) is a rare genetic disorder that can cause abnormal skin growths or tumors. Some of the physical affects of BHDS can include skin lesions, lung cysts, and an...

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 (BPDCN) is a rare cancer that affects certain cells of the immune system called dendritic cells. The immune system is the natural defense of the body...

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

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

Blepharospasm is an uncontrolled tic or twitch of the eyelid.

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

Blount’s disease is a growth disorder that affects the tibia (shinbone) and results in progressive bowing of the leg. It is caused by abnormal growth of the medial (inner) part o...

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

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

Haploinsufficiency of the Chromatin Remodeler BPTF
Causes Syndromic Developmental and Speech Delay,
Postnatal Microcephaly, and Dysmorphic Features

Brachydactylia describes the abnromal shortness of fingers and toes.

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

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 (BVVLS) is a rare neurological disorder caused by nerve loss. It is characterized by progressive sensorineural hearing loss and multiple cranial nerve...

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

Budd-Chiari syndrome is a rare disorder characterized by the blockage of the veins that transport the blood out from the liver. As a consequence, the blood flow is blocked and the blood accumula...

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

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

Burkitt Lymphoma is a rare cancer of the lymphatic system.

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

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

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...

Calciphylaxis is a life-threatening condition that occurs due to calcium deposition in small blood vessels in the skin and the fatty layer under the skin. This calcification causes the...

Canavan Disease is a rare neurological disorder that is caused by an inherited genetic abnormality which results in the degeneration of the white matter in the brain.The condition begins in infa...

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

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 is a rare genetic disorder that causes ammonia to accumulate in the blood.

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...

Cardio Spondylo Carpo Facial Syndrome 

with gene mutation in MAP3K7

CSCF syndrome

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

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

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

Castleman's Disease is a rare disorder characterized by abnormal non-cancerous growths in lymph node tissue. The lymphatic system moves fluid and distributes white blood cells to t...

Cat-eye syndrome is a rare chromosomal disorder caused by the presence of additional extra copies of a certain portion of chromosome 22 (22pter-22q11, the short arm and a small portion of the lo...

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

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

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder characterized by an arrhythmia (abnormal heart rhythm). As the patient encounters ...

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

Central areolar choroidal dystrophy (CACD) is a hereditary disorder that affects the macula, an area within the eye specialized in the perception of visual...

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

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

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

Char syndrome is a rare genetic disorder that affects the development of the face, heart and limbs. It is characterized by the presence of three symptoms: ...

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

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

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...

Childhood-onset degeneration with brain atrophy is a neurodegenerative disorder characterized by a progressive loss of the motor, cognitive and social func...

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

Chondroectodermal Dysplasia is a rare genetic skeletal disorder.

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

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

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

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 14 Deletion is a rare chromosomal disorder.

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

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

Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. This can occur either in the middle of the chromosome arm (“i...

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

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

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

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

Chronic Autoimmune Hepatitis is a rare chronic inflammatory liver disease.

Chronic Granulomatous Disease (CGD) is a rare inherited immune deficiency affecting the ability of phagocytic cells such as neutrophils, monocytes, macrophages and eosinophils to engulf and dest...

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

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 (CLL) is a type of cancer that originates in the bone marrow and affects the blood and lymphatic system. It involves the overproduction of abnormal lymphoc...

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

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

Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in...

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

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

CLN2 disease, also known as Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL), is a rare, inherited neurodegenerative disorder. It is part of a broader group of disorders called Neuronal Cer...

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

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

CNKSR2 causes seizures and intellectual, attention, and language deficits.  The disease is characterized by intellectual disability, attention problems, and a...

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

Cobb Syndrome, also known as Cutaneomeningospinal Angiomatosis, is a rare congenital disorder characterized by the presence of skin lesions and spinal cord deformities. The skin lesions may appe...

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

Coeliac Disease (CD) is an autoimmune disease of the small intestine caused by an intolerance to gluten in genetically predisposed individuals. Gluten is a general name for a group of ...

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 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 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 (CAD) is a rare autoimmune hemolytic anemia (destruction of red blood cells) where the immune system mista...

Collagenous Colitis is a rare inflammatory colonic disease.

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

Under the name of common variable immunodeficiency (CVID) are enclosed a group of disorders of the immune system with different underlying causes but similar symptoms. This syndrome is character...

Complete Androgen Insensitivity Syndrome (CAIS) is a condition where a person who is genetically male (46, XY) is resistant to and...

Cone-Rod Dystrophy (CRD) is a group of inherited eye disorders characterized by the loss of cone photoreceptor cells followed by rod photoreceptor cells in the retina. This leads to a progressiv...

Congenital Adrenal Hyperplasia (CAH) roughly translates to enlargement of the adrenal gland in childhood. This enlargement happens...

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

Congenital anosmia is a rare condition characterized by a complete lack of the ability to smell from birth. Congenital means “from birth” and anosmia is formed from the antithesis of...

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

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

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 deficiency of transcobalamin II (TC II deficiency) is a rare genetic disorder affecting the transport of vitamin B12 (cobalamin) into body cells. Transcobalamin II is a key protein th...

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

Congenital Dyserythopoietic Anemia is a rare genetic blood disorder.

Congenital Erythropoietic Porphyria (CEP), also known as Günther's disease, is a rare genetic disorder affecting the heme biosynthesis pathway due to a deficiency of the enzyme uroporph...

Congenital Generalized Lipodystrophy (CGL), also known as Berardinelli-Seip Syndrome, is a rare genetic disorder characterized by the near-total absence of subcutane...

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

Congenital Hypothyroidism is a rare thyroid hormone deficiency disorder.

Congenital Muscular Dystrophy is a rare form of Muscular Dystrophy.

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

Congenital Myopathy is a genetic muscular disorder.

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

Cornelia de Lange syndrome (CdLS) is a developmental disorder characterized by slow growth before and after birth, which affects many parts of the body. The collection of symptoms comprising the...

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

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

Corticobasal Degeneration (CBD) is a progressive rare neurodegenerative disease that involves the degeneration of brain cells and certain parts of the brain. Due to a loss of nerve cells, specif...

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

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 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 is a rare, degenerative brain disorder.

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

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

Crohn’s Disease (CD) is the chronic inflammation of the bowel or gastrointestinal tract (GIT). Crohn’s is chronic, stressful, and debilitating. Crohn’s is a specific form of In...

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

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

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 (CS) is a rare endocrine disorder caused by an excess of the hormone cortisol. Cortisol is a vital glucocorticoid, a class of steroid hormones that play an important rol...

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

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 is a rare form of neutropenia.

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

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

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

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

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

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

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

Dandy-Walker Syndrome is a rare congenital brain malformation.

What is Danon Disease?

Danon Disease (DD) is a rare, genetically inherited disease that primarily affects the heart, but can involve other organ sy...

Darier disease, also known as keratosis follicularis, is a rare genetic disorder of the skin. It is characterized by skin lesions that consist of thickened, scaly bumps which can be yellow or br...

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

Dent disease is a rare X-linked recessive, chronic kidney condition found almost exclusively in males. The severity of the disease and the specific symptoms can vary. Females, who can be carrier...

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

Growths of fatty tissue (lipomas) may appear all over body, the lumps push on nearby nerves and can cause weakness, severe pain, burning, electric shock sensation, parethesia, aching, numbness, ...

Dermatitis Herpetiformis is a rare chronic blistering skin condition.

Dermatofibrosarcoma Protuberans is a rare type of malignant tumor.

Dermatomyositis (DM) is a rare autoimmune connective tissue disorder related to polymyositis. An inflammatory myopathy disease; myopathy is a condition that affects the muscles.  It is char...

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

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

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

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

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

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

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

Dopa-Responsive Dystonia (DRD) is a rare neurological disorder characterized by involuntary muscle contractions and postures. It typically begins in childhood and can range in symptoms severity ...

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 ...

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

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 is a rare eye movement disorder.

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

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

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

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

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

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

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

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

There is a collection of rare diseases grouped together as disorders affecting connective tissues known as Ehlers-Danlos syndromes. They are all inherited disorders caused by genetic m...

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

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...

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

A group for those who care for individuals with encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome caused by mutations on the gene FBXL4.

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

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

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

Epidermolytic Hyperkeratosis is a rare skin disorder.

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

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

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

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

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

Erythropoietic Protoporphyria is a mild form of porphyria causing photosensitivity.

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

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

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

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

Evans syndrome is a rare autoimmune disorder, meaning that the body’s immune system attacks and damages healthy tissue. In the case of Evans syndrome, blood cells are targeted by the immun...

Ewing Family of Tumors refers to a group of tumors that have similar genetic causes that lead to tumor development in bones and soft tissues. Ewing Family of Tumors includes four subty...

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

Extramammary Paget Disease (EMPD) is a skin malignancy that affects the outer layer (epidermis) of the skin in areas that are rich in apocrine sweat glands. Apocrine sweat glands are a type of s...

Fabry disease is a type of lysosomal storage disease. Lysosomes are organelles in cells that are responsible for digesting nutrients that are taken up by the cell. It is a round struct...

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

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

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

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

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

It is a rare genetic degenerative disorder affecting the brain and spinal cord, or central nervous system(neurodegenerative disorder). Affected individuals display poor attention and concentrati...

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

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

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

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

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 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 is a disorder characterized by the core symptoms of chronic widespread pain, tenderness, fatigue, sleep disturbance, and cognitive disturbance. The severity of each differs between ...

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...

FATCO syndrome is a rare malformation of the lower limbs in newborns. It involves fibular hemimelia, tibial campomelia, and lower limb oligosyndactyly in the lateral rays. Tibia and fibula are t...

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

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

Fragile X Syndrome is an inherited genetic disorder caused by a mutation in the FMR1 gene that affects nearly 1 in every 4,000 males and 1 in every 6,000 to 8,000 females in the USA. T...

Fraser syndrome is an autosomal recessive disorder that occurs due to the abnormal prenatal development of some organs. In recessive disorders, both parents must carry and pass on a defective ge...

Freeman-Sheldon syndrome is a rare genetic disorder that is usually inherited in an autosomal dominant pattern. It typically affects the face, hands, and feet. ...

Friedreich Ataxia (FA) is a rare, inherited condition that results in progressive nervous system damage an...

Frontotemporal dementia is a general term that covers a group of disorders that are characterized by the shrinkage (atrophy) of the frontal and the tempora...

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

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

Galactosemia is a family of genetic disorders which affect how the body processes a simple sugar called galactose. Specifically, it affects the body’s ability to convert galactose (a sugar...

Galactosialidosis is a rare condition that affects many regions of the body due to complications with lysosomal storage. Lysosomes are a special compartment within t...

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

Cancer is the uncontrolled division and growth of a certain cell type in the body. Gastrointestinal stromal tumors (GISTs) are a type of cancer that arises in the gastrointestinal (GI)...

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

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...

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

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

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 is an inflammatory disease of the blood vessels.

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

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

Gliomatosis Cerebri is a rare form of brain tumor.

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

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 is a rare disorder caused by impaired glucose transport into the brain.

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

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...

The human body uses glucose, a carbohydrate or sugar, as its main source of energy. Glycogen storage diseases affect the body’s ability to either store glucose in the form of gly...

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

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

The human body uses glucose, a sugar, as its main source of energy. Glycogen storage diseases affect the body’s ability to either store glucose in the form of glycogen for later ...

GNE myopathy, also known as hereditary inclusion body myopathy (HIBM) type 2, is a rare disease that causes progressive muscle weakness in the muscles of the lower l...

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

Goodpasture syndrome is a rare autoimmune disorder characterized by the presence of anti-glomerular basement membrane antibodies in the bloodstream. These antibodies...

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

GRACILE Syndrome genetic disorder of the Finnish heritage diseases.

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

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

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

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

Griscelli syndrome is a rare, inherited condition characterized by hypopigmentation, or light skin and light hair. Griscelli syndrome is an autosomal reces...

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

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

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 is a rare hereditary metabolism disorder primarily affecting the retina.

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

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

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

Harboyan syndrome, also known as corneal dystrophy-perceptive deafness (CDPD), is an inherited, degenerative disorder characterized by congenital hereditary endothel...

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

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

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.

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

Hemoglobin Hasharon is a rare blood disorder.

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

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

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

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

A community for those affected by HHT. Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder that causes malformed blood vess...

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

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 is a condition characterized by recurrent episodes of pancreatic attacks.

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

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

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

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

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

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

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

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

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

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

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

Homocystinuria (HCU) is a rare disease characterized by an individual’s inability to process the amino acid methionine, which can cause harmful build-ups in the blood and urine. ...

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

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

Huntington's disease is a progressive brain disease characterized by the continuous loss of brain cells (neurons). Individuals with Huntington's Disea...

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

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

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 is a rare inherited autosomal dominant disorder.

Hyperlipoproteinemia is the raised presence lipids in the blood.

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

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

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

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

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

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

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

Overview

Hypopituitarism, also known as an underactive pituitary gland, occurs when the pituitary gland's front lobe partially or completely loses its ability to produce hormones. ...

IRVAN syndrome is a rare disease characterized by retinal vasculitis, retinal aneurysms and neuroretinitis. Patients are usually asymptomatic at diagnosis but over time, proliferativ...

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

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

Idiopathic Hypersomnia (IH) is a chronic neurological disorder characterized by excessive daytime sleepiness and difficulty waking up in the morning or from daytime naps. In IH, these symptoms a...

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

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 (IPF) is a rare disease characterized as a chronic lung disorder, in which the tissues in the lungs gradually thicken or harden over time. IPF is actually...

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

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 is a rare autoimmune disorder characterized by the toxic build up of immunoglobulin A antibody (IgA) in the kidneys. This excess amount of antibody causes inflammation ...

Inclusion Body Myositis is a rare inflammatory muscle disease.

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

Infantile neuroaxonal dystrophy (INAD) is a rare, genetic neurological disorder. Symptoms usually present between 6 and 18 months of age. There is often ra...

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

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

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

Isaac's Syndrome is a rare neuromuscular disorder.

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

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 is a rare hereditary skeletal growth disorder.

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...

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

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

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

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

Kallmann syndrome is a rare disease characterized by the body’s failure to release proper growth and development hormones at the time of puberty. Both males and females with Kall...

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

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

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

KCNC1 developemental and epileptic encephalopathy (DEE) is a rare single gene condition caused by disease-causing changes in the KCNC1 gene, excluding the c.959G>A; p.Arg320His variant, ...

Kcnma1 is a disorder that causes generalized epilepsy, dyskinesia, developmental delays, tremors, heart issues, gi tract issues and more. 

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

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

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

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

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

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

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

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

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

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

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

Lamellar Ichthyosis is a rare inherited skin disorder.

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

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

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 lymphocyte leukemia (LGLL) is a rare form of leukemia affecting the white blood cells called “lymphocytes”. Leukemia is a term referring to cancer in the blood, causin...

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Liddle’s syndrome is a rare disease involving higher than normal kidney activity which leads to hypertension, or high blood pressure. A channel in the kidney epithelial layer, EN...

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

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

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

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

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

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

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

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

Lyell Syndrome is characterized by an allergic reaction to a medication or illness leading to rashes, blisters, and subsequent ski...

Lymphangioleiomyomatosis is a rare idiopathic disorder.

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

Lymphocytic Colitis is a rare disorder characterized by diarrhea.

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

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

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

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

Malignant peripheral nerve sheath tumor (MPNST) is a rare cancer type that affects the protective tissue that surrounds the nerves that come out the spinal...

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 is a condition that prevents the body from converting some typs of fat to energy.

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

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

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

Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is a rare condition characterized by the failure of the uterus and the vagina to dev...

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

Meckel Syndrome is a rare genetic disorder.

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.

The diaphragm is a structure made of muscle and fibrous tissue that separates the chest cavity from the abdominal cavity and aids with breathing. There are a few openings or hiatus in ...

Medullary Cystic Kidney Disease is a rare kidney disorder.

Medullary sponge kidney (MSK) is a congenital disorder developed from birth that affects the medulla or inner part of the kidneys. The kidneys’ function is to concentrate and fil...

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 is a rare disorder characterized by an enlarged brain.

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

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

Complement 3 Glomerulopathy (C3G) is a rare disease caused by an overactive immune system, leading to deposit build-up in the kidneys and a decline in kidney function. There are two ty...

Meningiomas are the most common benign tumors of the brain.

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

MEPAN Syndrome is an ultra-rare neurodegenerative mitochondrial condition that is caused by mutations to the MECR gene. It results in impaired mitochondrial fatty acid synthesis and causes child...

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

Metachromatic Leukodystrophy is a rare lysosomal storage disease.

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.

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

Duplication of genes on chromosome location 22q11.2 causes a genomic disease known as microduplication 22q11.2 syndrome. The normal human genome has 23 chromosomes, 22 autosomes and 1 ...

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 (MDS) is a rare genetic condition, characterized by an abnormally smooth brain (lissencephaly), distinctive facial features, and neurologic abnormalities. MDS is caused by...

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

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

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

Mixed connective tissue disease (MCTD) is an autoimmune disorder that manifests symptoms from oth...

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

Molybdenum cofactor deficiency is a rare disorder characterized by progressive neurological deterioration. This condition is caused by genetic defects that lead to a reduction in the s...

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

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

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, also known as Mucopolysaccharidosis IV (MPS IV), is a rare genetic disorder that affects the body’s skeletal development. Individuals with MPS lack the ability to break d...

Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with celldivision (specifically during mitosis) that...

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

Muckle-Wells syndrome (MWS) is an hereditary autoinflammatory disease with periodic fevers caused by mutations in the NLRP3 gene. It is considered a cryopyrin-associated syndrome (CAPS)...

Mucopolysaccharidosis Type I (MPS I), also known as Hurler Syndrome in its most severe form, is a rare inherited lysosomal storage disorder resulting from a deficiency of the enzyme al...

Mucopolysaccharidosis Type II (MPS II), commonly known as Hunter Syndrome, is a rare lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. This deficiency leads ...

Mucopolysaccharidosis III (MPS III), commonly known as Sanfilippo Syndrome, is a lysosomal storage disorder characterized by the accumulation of complex sugar molecules called glycosaminoglycans...

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

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

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

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

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 is a rare familial cancer syndrome caused by mutations in the RET proto-oncogene.

Multiple Epiphyseal Dysplasia is a rare cartilage and bone disorder.

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

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 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 (MS) is a neurological, autoimmune disorder of the central nervous system.  The immune system is the body’s defense against foreign materials such as viru...

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

Multisystem proteinopathy (MSP) is an inherited degenerative disorder that affects multiple organ systems including the muscle, bone and the nervous system. The phenotypes of MSP encompass inclu...

Foundation to advocate for patients and families living with Multisystemic Smooth Muscle Dysfunction (MSMDS or SMDS), a disease caused by an ACTA2 genetic mutation.

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

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

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

Myasthenia Gravis is an autoimmune disease that affects about 14-40 in every 1000 individuals. Individuals affected by Myasthenia Gravis produce an autoimmune response that blocks rece...

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

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

Myelodysplastic syndrome (MDS) is a group of cancers affecting blood cells. The term “myelodysplastic” comes from “myelo,” meaning marrow, and “dysplasia&...

There are three main types of cells in blood: red blood cells (RBCs), white blood cells (WBCs), and platelets. RBCs are responsible for the transport of gases such as oxygen and carbon...

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

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 (DM1) is a degenerative muscle disorder that affects multiple body systems. The term myotonic means &ldq...

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

N-acetylglutamate synthetase (NAGS) deficiency is a rare genetic disorder caused by either the complete or partial absence of the enzyme N-acetylglutamate ...

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 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 is a lifelong neurological sleep disorder which is characterized by extreme daytime sleepiness and uncontrollable sleep attacks. These attacks vary in duration, frequency, and severit...

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

Necrotizing Enterocolitis - often abbreviated to NEC - is a rare disease affecting newborns. The affected newborns are typically infants born premature or with a ver...

Nemaline myopathy is a group of rare genetic disorders affecting skeletal muscle. On a microscopic level, abnormal rod-shaped bodies (nemalines) are found in affecte...

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

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

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

Neuroaxonal Dystrophy

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

Neurocutaneous melanocytosis (NCM) is a rare disease that develops before birth. It is characterized by pigmented tumors in the brain and large pigmented spots or lesions called large/giant cong...

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 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 (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 is a disorder in which the peripheral nerves are unusually sensitive to pressure.

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 bra...

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

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

Nodular Regenerative Hyperplasia is a rare form of liver hyperplasia.

Non-ketotic hyperglycemia (NKH) is caused by the disruption of glycine breakdown. Glycine is an amino acid, which is a building block of proteins. In NKH, the enzyme that degrades glyc...

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...

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

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

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

Obstructive hydrocephalus (also called non-communicating hydrocephalus) is a form of hydrocephalus which is caused by some visible blockage in the flow of cerebrospinal fluid.

Hyd...

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

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

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

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

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

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

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

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

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

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

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

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

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

Osteogenesis imperfecta (OI) is a group of rare genetic disorders that affect the bones and its connective tissues. Affected individuals have extremely brittle bones...

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...

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

Human nerve cells are called neurons. The brain is made up of millions of n...

Pachyonychia Congenita is a rare genetic skin disorder.

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 is a rare genetic disorder occuring due to tetrasomy of the twelfth chromosome.

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

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

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

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

Parapsoriasis refers to a group of skin conditions that resemble psoriasis. Psoriasis is a skin disorder that leads to a rapid proliferation of skin cells that accumulate and form red and bumpy ...

Parkinson Disease is a progressive disorder of the nervous system.

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

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

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

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

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 is a disorder characterized by intervals of 3-5 weeks.

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

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

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

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

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...

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 is a chain of certain developmental malformations.

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 is a brain tumor that occurs predominantly in children.

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

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

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

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

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

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

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

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

Polymyositis (PM) is an idiopathic inflammatory myopathy, meaning an inflammation of the muscles without a known cause. The immune system is the body’s defense against foreign ma...

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

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

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 is the result of the duplication of chromosome 17p11.2.

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

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

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

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

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

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 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 is a rare neuromuscular disease.

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

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

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

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

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 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 is a disease of the brain's white matter.

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

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

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

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

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

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

Psoriasis is a chronic autoimmune system condition that is commonly considered an inflammatory skin disease. Psoriasis causes a rapid expansion of skin cells that leads to the formation of painf...

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

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

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

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

Pulmonary Valve Stenosis is a rare valvular heart disorder.

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

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

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

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 is the abnormal development of the radio-ulnar joint.

Rambam Hasharon Syndrome is a rare genetic disorder.

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 is a rare disorder that affects the governance of proper breathing.

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...

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

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

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

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

Relapsing Polychondirtis (RP) is a rare and degenerative disease in which  the body’s cartilage undergoes recurrent inflammation. The body’s cartilage is a firm tissue found all...

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

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

The heart is the organ that pumps blood to the body. Structurally, it is made up of four chambers: the right atrium, the right ventricle, the left atrium, and the left ventricle. The l...

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

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 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

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

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

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

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

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

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

Sacral Agenesis is a rare spinal deformity affecting the sacrum.

Sacrococcygeal Teratoma tumor located at the base of the tailbone.

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

Sandhoff Disease is a rare genetic lipid storage disorder.

SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis) syndrome is a chronic, inflammatory condition affecting the bones, joints, and skin. Inflammation is a natural immune re...

Sarcoidosis is an inflammatory disease that is defined by clumps of inflammatory cells called granulomas. The immune system is overworking and forms these granulomas in different organs of the b...

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

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

Schinzel-Giedion Syndrome is a rare congenital neurodegenerative disorder.

Schizencephaly is a rare cortical malformation of the brain.

Schnitzler Syndrome is a rare disease characterised by chronic hives.

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

Scleromyxedema (SM) is a rare condition involving excessive deposition of a substance called mucin in connective tissue, in particular in the skin. Scleromyxedema is usually systemic, affecting ...

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 is adrenal hypofunction caused by a lack of ACTH.

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

De Morsier’s syndrome, also known as septo-optic dysplasia, is a disorder affecting early brain and eye development. It is characterized by the underdevelopment of the eye nerve (optic ner...

Serpiginous Choroiditis is a rare inflammatory disease of the retina.

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

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

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

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

Sheehan's Syndrome is hypopituitarism during and after childbirth.

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 is a disorder associated with premature closure of sutures of the skull and marfanoid habitus.

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

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

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

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

Silver-Russell Dwarfism, commonly known as Silver-Russell Syndrome (SRS), is a rare growth disorder that begins at the earliest stages of development in the womb and...

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

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

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

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

Sjogren’s syndrome is characterized by dry eyes, mouth, or other body parts. It is an autoimmune disorder where the immune system mistakenly attacks the affect...

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

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

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 ...

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

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

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

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

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

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 is a rare autosomal dominant disorder characterized by congenital deformity of the hand where the middle digit is missing.

Rare disorder with axial skeleton failure to form.  

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

Steroid-Sensitive Nephrotic Syndrome is a rare kidney disease.

Stickler Syndrome is a group of genetic disorders affecting collagen.

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

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 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 ...

Superior Mesenteric Artery Syndrome occurs when the 3rd portion of the duodenum becomes compressed between the Superior Mesenteric Artery and the Abdominal Aorta. This compression causes partial...

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

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

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

Synovial Chondromatosis is a rare benign cancer of the tissue that lines the joints (synovium).

Syringomyelia is a chronic disorder of the spinal cord which consists of the formation of a fluid-filled cyst, also known as a syrinx, in the spinal cord. As the cyst enlarges over tim...

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

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

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

Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, v...

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.

The spinal cord is a part of the nervous system that extends down the vertebral column. The spinal cord is divided into thirty one segments. From each segment, two sets of nerves emerge that are...

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

Temporal Lobe Epilepsy a neurological disorder characterized by recurrent seizures.

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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 (ToF) is a rare birth defect that affects the normal flow of blood through a baby’s heart, caused by abnormal development of the heart during pregnancy. There...

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

Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production in red blood cells. Hemoglobins are proteins responsible for carrying oxygen from the lungs to the rest...

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

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

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

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

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

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

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

Congenital tracheomalacia refers to a structural abnormality of the central airway, trachea, that is present at birth. The trachea or windpipe is a cartilaginous tube that connects the nose and ...

Transverse Myelitis is a neurological disorder causing axonal demyelination.

Treacher Collins Syndrome (TCS) is a rare genetic disorder characterized by craniofacial abnormalities that affect the development of the bones and tissues of the face. The condition varies wide...

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

Trimethylaminuria (TMAU) is a rare metabolic disorder characterized by a strong body odor that resembles the smell of rotting fish.  Trimethylamine (TMA) is a chemical with a stro...

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

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

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...

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

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

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

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

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

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

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

Tuberculous Meningitis is an infection of the central nervous system.

Tuberous sclerosis is a genetic condition characterized by benign tumors in different organs and organ systems. The name “tuberous sclerosis” refers to “tuber” or nodules...

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

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.

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

Unverricht-Lundborg Disease is a raregenetic epilepsy disorder.

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

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

Welcome to the Foundation for USP7 Related Diseases! We are a registered 501(c)(3) non-profit organizatio...

Uveitis is inflammation of the middle layer of the eye.

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

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

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

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

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 is a type of hemophilia.

Vulvar Cancer is a malignant growth in the vulva.

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

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

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

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

wAIHA Warriors is a group for those diagnosed or caring for someone with Warm Hemolytic Autoimmune Anemia, a rare blood disorder. The group is a forum to help provide a place to connect, as well...

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 is a rare genetic disorder characterized by premature aging.

West Syndrome is a rare form of epilepsy in infants.

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

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

Wilms' Tumor is a tumor of the kidneys.

Wilson’s Disease is a rare genetic disorder characterized by the accumulation of excess copper in various organs, particularly the liver, brain and eyes. This condition leads to liver-rela...

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

In Wolff-Parkinson-White (WPW) syndrome, an extra signaling pathway between the heart's upper and lower chambers causes a fast heartbeat (tachycardia). 

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

Wolman Disease is a rare form of lipid storage disease.

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

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 is a rare inherited disorder affecting multiple body functions including intellectual development and muscle development.

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

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 (XLH) is an inherited disorder caused by mutations in the PHEX gene on the X chromosome. This gene is responsible for encoding a protein involved in regulating blood ph...

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

X-linked lymphoproliferative (XLP) syndrome is a rare inherited disorder of the immune system which causes a dysregulation in the immune system and an overproduction of immune cells in response ...

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

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

XP22.31 deletion which carries an unknown prognosis, is characterized by skin conditions (itchyosis) from lack of Steroid Sulfatase, undescended testicles, seizures and learning/developmental is...

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

XX Male Syndrome is a rare sex chromosomal disorder.

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

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

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

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

A community for people who have been diagnosed with ZTTK Syndrome. 

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