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Symptom Checker » Gastroparesis » Neck symptoms
 

Gastroparesis and Neck symptoms
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Results: Causes of Gastroparesis AND Neck symptoms

    1. Bamforth syndrome
     A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning....read more »
    2. Hereditary amyloidosis
     An inherited form of amyloidosis which is characterized by a build up of the protein amyloid in tissues and organs. This form of amyloidosis tends to affect mainly the nervous system and gastrointestinal tract. Symptoms are determined by the size and loca...read more »

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Results: 811 causes of Gastroparesis OR Neck symptoms

    1. 1q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    2. 1q terminal deletion
     A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities....more »
    3. 2q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    4. 3q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    5. 49,XXXXX syndrome
     A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two....more »
    6. 49,XXXXY syndrome
     A rare sex chromosome abnormality where there are three extra copies of the X chromosome....more »
    7. 8p-Syndrome, partial
     A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted....more »
    8. ACPS III
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    9. Aarskog Syndrome
     A rare genetic condition characterized by facial, hand, genital and growth abnormalities....more »
    10. Acanthamoeba infection
     Infection with a microscopic, free-living ameba that is readily found in the environment - soil, air and water. Most people exposed to the ameba will not become infected but when infections do occur, they tend to affect the eyes, central nervous system or...more »
    11. Acanthamoeba infection of the central nervous system
     Infection by an amoebic organism called Acanthamoeba. Infection usually occurs when the amoeba enters through a break in the skin or through the nose. Infection can be localized or systemic where it can involve the central nervous system and cause potenti...more »
    12. Aceruloplasminemia
     A rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the blood. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancre...more »
    13. Achondrogenesis type 1A
     A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an a...more »
    14. Achondrogenesis type 2
     A rare genetic disorder characterized by very small stature, abnormal bone formation and early death....more »
    15. Achondrogenesis, type 4
     A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis....more »
    16. Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    17. Acrocephalopolysyndactyly type III
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    18. Acrofacial dysostosis Catania form
     One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare....more »
    19. Acrofacial dysostosis Preis type
     One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable....more »
    20. Acrofacial dysostosis Rodriguez type
     One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations....more »
    21. Acrofacial dysostosis, Palagonia type
     One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild....more »
    22. Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome
     A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma....more »
    23. Acromelic frontonasal dysplasia
     A very rare genetic malformation syndrome characterized by developmental abnormalities of the face and brain....more »
    24. Acroosteolysis dominant type
     A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes....more »
    25. Acute Bokhoror
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    26. Acute Disseminated Encephalomyelitis
     A rare neurological disorder where an inflammation of the brain and spinal cord occurs due to damage to the protective covering (myelin sheath) around the nerves....more »
    27. Acute Sinusitis
     A condition which is characterized by an acute inflammatory reaction affecting the sinuses...more »
    28. Acute VE
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    29. Acute Viliuisk Encephalitis
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    30. Acute Viliuisk Encephalomyelitis
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    31. Acute Vilyuisk Encephalitis
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    32. Acute Vilyuisk Encephalomyelitis
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    33. Acute headache
     Headache, or cephalgia, is defined as diffuse pain in various parts of the head, with the pain not confined to the area of distribution of a nerve....more »
    34. Acute idiopathic polyneuritis
     A rare progressive form of ascending polyneuropathy believed to be an autoimmune response....more »
    35. Acute meningitis
     Acute meningitis is an inflammation of the brain that presents in an acute fashion. The inflammation may be the result of infective agents such as bacteria, viruses and fungi as well as non-infective agents such as certain drugs. Acute forms of meningitis...more »
    36. Acute pharyngitis
     A condition which is characterized by an acute inflammatory reaction of the pharynx...more »
    37. Adenocarcinoma, Follicular
     A type of cancer of the thyroid gland....more »
    38. Adenoid disorders
     A disorder of the adenoids of the throat...more »
    39. Adenoiditis
     Infection of the adenoids in the nasal-throat region...more »
    40. Adenoviridae Infections
     Infection with a virus from the Adenoviridae family. The most common sites for infection are membrane linings such as the intestines, respiratory and urinary tract and the eyes. The infection may result in a range of symptoms depending on the particular v...more »
    41. Adenovirus infection in immunocompromised patients
     Infection with a virus from the Adenoviridae family that occurs in a patient with a weakened immune system. The infection in these people is serious and can be fatal. The infection may result in a range of symptoms depending on the particular virus involv...more »
    42. Adrenal Cancer
     A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal ho...more »
    43. Adrenal Cortex Neoplasms
     A tumor that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made...more »
    44. Adrenal adenoma, familial
     A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormon...more »
    45. Adrenal gland hyperfunction
     Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal...more »
    46. Adrenal hyperplasia, congenital type 3
     A group of disorders that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The severity of the condition is variable depending on the degree of deficiency....more »
    47. Adrenal incidentaloma
     A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The t...more »
    48. Adrenocortical carcinoma
     A condition which is characterized by malignancy which affects the adrenocortex....more »
    49. Aggressive fibromatosis -- parapharyngeal space
     A type of tumor that occur near in the space around the pharynx and is locally invasive but not malignant. They tend to occur mainly in the head and neck region and symptoms depend on the exact location and aggressiveness of the tumor. Tumors often reoccu...more »
    50. Akaba-Hayasaka syndrome
     A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs....more »
    51. Al Gazali Aziz Salem syndrome
     A rare syndrome characterized mainly by heart disease, short stature and a webbed neck....more »
    52. Albright's hereditary osteodystrophy
     A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate....more »
    53. Amobarbital -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ...more »
    54. Anaplastic large cell lymphoma
     A rare type of cancer where a tumor develops in lymph tissue and usually consists of white blood cells and null cells. It is a form of non-Hodgkin's lymphoma. The tumors can develop in more than one lymph node and can also occur in the skin and various or...more »
    55. Anaplastic small cell lymphoma
     A rare type of cancer where a tumor develops in lymph tissue and consists mainly of small cells. It is a form of non-Hodgkin's lymphoma. The tumors can develop in more than one lymph node and can also occur in the skin and various organs such as the liver...more »
    56. Anemia, Blackfan Diamond
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    57. Aneurysm, intracranial berry
     A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one ...more »
    58. Aneurysm, intracranial berry, 1
     A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one ...more »
    59. Aneurysm, intracranial berry, 2
     A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one ...more »
    60. Aneurysm, intracranial berry, 3
     A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one ...more »
    61. Aneurysm, intracranial berry, 4
     A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one ...more »
    62. Aneurysm, intracranial berry, 5
     A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one ...more »
    63. Aneurysm, intracranial berry, 6
     A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are now six different subtypes of intracranial berry aneurysms with each o...more »
    64. Aneurysm, intracranial berry, 7
     A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one ...more »
    65. Aneurysm, intracranial berry, 8
     A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one ...more »
    66. Aneurysmal subarachnoid haemorrhage
     Bleeding in the space around the brain that occurs from a leak in a weakened or dilated blood vessel under the arachnoid layer of the brain. Death can occur if treatment is not prompt....more »
    67. Angina
     A special type of chest pain....more »
    68. Angioneurotic Edema
     Recurring periods of noninflammatory swelling involving the skin, intestinal organs, brain and mucous membranes. In severe cases, respiratory swelling can result in compromised breathing....more »
    69. Angiostrongyliasis
     Infection by a parasitic worm (Angiostrongylus). Infection can occur through eating contaminated raw animals such as snails, slugs, prawns or crabs which act as hosts to these parasites....more »
    70. Ankylosing spondylarthritis
     Inflammation of one or more spine joints. The spine becomes progressively painful and stiff and the spine joints may eventually fuse and cause disability. The condition may vary from mild to severe. Inflammation can affect other joints and tissues....more »
    71. Anorexia Nervosa
     A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases....more »
    72. Anotia -- facial palsy -- cardiac defect
     A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects....more »
    73. Anoxia
     Lack of oxygen to the body's tissues....more »
    74. Antithyroid drugs -- Teratogenic Agent
     There is strong evidence to indicate that the use of Antithyroid drugs during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the lev...more »
    75. Aortic Aneurysm, Thoracic
     Bulging and weakness of the aorta in the area of the chest. The condition is life-threatening as death can occur rapidly if the aneurysm bursts....more »
    76. Arbovirosis
     An infectious disease caused by an arbovirus. The virus is transmitted by arthropods such as insects and ticks. Examples of arboviruses include Yellow Fever, Japanese encephalitis and tick-borne encephalitis. The symptoms may vary depending on the type of...more »
    77. Arnold-Chiari Malformation (Type 1)
     A rare malformation where the base of the brain enters into the upper spinal canal....more »
    78. Arnold-Chiari malformation type 2
     A rare malformation where the base of the brain enters into the upper spinal canal. The extent of the deformity is greater in type 2 than type 1 and hence the symptoms are more severe and are often associated with a myelomeningocele (opening of the spine ...more »
    79. Arnold-Chiari malformation type 3
     An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis....more »
    80. Aromatic amino acid decarboxylase deficiency
     A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests...more »
    81. Arthrogryposis -- epileptic seizures -- migrational brain disorder
     A rare disorder characterized by congenital joint contractures, epileptic seizures and brain development abnormalities. It can be caused by fetal exposure to alcohol or chemical products....more »
    82. Arthrogryposis distal type II
     A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects....more »
    83. Arthrogryposis multiplex congenita -- pulmonary hypoplasia
     A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems....more »
    84. Arthrogryposis multiplex congenita type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    85. Arthrogryposis multiplex congenita, distal, X-linked
     A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked....more »
    86. Arthrogryposis, distal, type 2A
     A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies....more »
    87. Arthrogryposis, distal, type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    88. Ascher's Syndrome
    89. Asrar-Facharzt-Haque syndrome
     A form of sinus histiocytosis characterized by lymphadenopathy as well as involvement of other tissues such as the sinus cavity, skin, lungs, bone, eyes, kidneys, testes, head and neck area and the central nervous system. Symptoms vary according to the or...more »
    90. Ataxia -- diabetes -- goiter -- gonadal insufficiency
     A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia....more »
    91. Atlanto-Axial Fusion
     A congenital anomaly where the first neck vertebrae is fused to the skull....more »
    92. Austrian syndrome
     A condition where alcoholism is associated with heart failure and pneumococcal meningitis....more »
    93. Autoimmune Myelopathy
     A disturbance functionally or pathological change in the spinal cord...more »
    94. Autonomic neuropathy
     A disorder of the nervous system concerned with regulation of activity of cardiac muscle, smooth muscle, and glands, usually restricted to the sympathetic and parasympathetic systems...more »
    95. Baby rattle pelvic dysplasia
     A lethal bone development disorder....more »
    96. Back tumour
     The presence of tumour growth in the vertebra, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast....more »
    97. Bamforth syndrome
     A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning....more »
    98. Bangstad syndrome
     A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia....more »
    99. Barber's rash
     Skin infection in facial hair areas...more »
    100. Barrett syndrome
     Barrett's syndrome refers to cellular changes in the lower portion of the oesophagus as a result of chronic reflux. The changes in the cells of the esophagus can lead to cancer of the esophagus (adenocarcinoma)....more »
    101. Barrett's esophagus
     Damage to the cells lining the esophagus usually from refluxed acid....more »
    102. Bartschi-Rochaix syndrome
     A range of symptoms caused by compression of the cerebral artery....more »
    103. Basilar impression primary
     A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospina...more »
    104. Beals syndrome
     A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear....more »
    105. Behcet's Disease
     Recurring inflammation of small blood vessels affecting various areas....more »
    106. Bell's Palsy
     A usually temporary facial nerve disorder where a part or all of the face becomes suddenly paralysed....more »
    107. Ben-Ari-Shuper-Mimouni syndrome
     A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder....more »
    108. Bernheim's syndrome
     Reduced size of right heart ventricle due to enlargement of the left ventricle which encroaches on the space in the right ventricle. Blood flow from the right atrium to the right ventricle is obstructed....more »
    109. Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency
     A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia....more »
    110. Blepharophimosis -- nasal groove -- growth delay
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    111. Blepharophimosis -- nasal groove -- growth retardation
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    112. Blepharoptosis -- aortic anomaly
     A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta....more »
    113. Boil
     Infected puseous hair follicle on the skin...more »
    114. Borreliosis
     An infectious bacterial disorder that is transmitted by ticks and causes skin rashes joint swelling and other symptoms similar to the flu....more »
    115. Brain infection
     Infection of the brain including encephalitis...more »
    116. Broken neck
     Fracture of the bone or bones in the cervical spine....more »
    117. Bronchogenic carcinoma
     When cells of the lung start growing rapidly in an uncontrolled manner, the condition is called lung cancer ....more »
    118. Bronchopulmonary dysplasia
     A rare form of infant lung disease that usually occurs as a complication of ventilator use in premature babies....more »
    119. Calabro syndrome
     A rare syndrome characterized mainly by premature fusion of skull bones, arm and leg abnormalities, small jaw, short neck and genital defects....more »
    120. California encephalitis
     An uncommon mosquito born virus (California encephalitis virus) which can cause brain inflammation in humans. The severity of symptoms is variable. The incubation period can last from a few days to a week. Infants and children tend to be more severely aff...more »
    121. Camptodactyly syndrome, Guadalajara type 1
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head....more »
    122. Camptodactyly syndrome, Guadalajara type 3
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly)....more »
    123. Candidiasis familial chronic mucocutaneous, autosomal dominant, with thyroid disease
     A dominantly inherited condition characterized by poor immunity to fungal infections (particularly those caused by Candida albicans) as will as thyroid disease. Persistent fungal infections tend to affect the nails, skin or mucous membranes. The degree of...more »
    124. Cantu Sanchez-Corona Garcia-cruz syndrome
     A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities....more »
    125. Cantú syndrome
     A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage...more »
    126. Carbohydrate deficiency glycoprotein syndrome type II
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves t...more »
    127. Carcinoma of the vocal tract
     Cancer of the vocal cords in the larynx....more »
    128. Carcinoma, squamous cell of head and neck
     A type of cancer that occurs in the mucosal lining of parts of the head and neck e.g. esophagus, sinuses, nasal cavity, pharynx, mouth and lips. Symptoms will vary depending on the exact location of the cancer....more »
    129. Carnevale-Krajewska-Fischetto syndrome
     A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay....more »
    130. Cat Eye Syndrome
     A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia....more »
    131. Cat's cry
    132. Central nervous system infections
    133. Centronuclear myopathy, congenital
     A severe inherited form of muscle wasting disease which often results in infant death....more »
    134. Cervical Spondylosis
     Condition where bony changes within the cervical spine causes spinal cord compression with associated neck pain; usually seen in patients over 40 years of age....more »
    135. Cervicogenic headache
     Cervicogenic headache is a syndrome characterized by chronic hemicranial pain that is referred to the head from either bony structures or soft tissues of the neck....more »
    136. Cervicooculoacoustic syndrome
     A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck....more »
    137. Chemical meningitis
     Symptomatic aseptic, chemical meningitis is a rare complication of myelography. A number of these cases have a history of one or more episodes of chemical meningitis preceding their arachnoiditis....more »
    138. Chemical poisoning -- Acrylic acid
     Acrylic acid is a chemical used mainly in the production of resins and acrylic acids which are usually used in adhesives and coatings. It is also used in water treatment and in the production of plastics and detergents. Ingestion and other exposures to th...more »
    139. Chemical poisoning -- Chloroacetophenone
     Chloroacetophenone is a chemical used mainly in tear gas for riot control purposes. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nat...more »
    140. Chemical poisoning -- Chlorobenzylidene Malononitrile
     Chlorobenzylidene Malononitrile is a chemical used mainly in tear gas. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the ex...more »
    141. Chemical poisoning -- Formaldehyde
     Formaldehyde is a chemical used mainly in blues, lacquers, fireproofing, electrical insulation, leather tanning products and embalming. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depe...more »
    142. Chemical poisoning -- Helium
     Helium is a chemical used mainly in helium balloons, neon signs and diving gas. The gas is sometimes misused as an inhalant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on th...more »
    143. Chemical poisoning -- Hydrogen Chloride
     Hydrogen Chloride is a chemical used mainly in the manufacture of rubber and vinyl chloride . Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved a...more »
    144. Chemical poisoning -- Morpholine
     Morpholine is a chemical used in a variety of applications: rubber industry, corrosion inhibitor, pharmaceuticals, dyes, crop pesticides and as a solvent in various manufacturing processes. The chemical may be absorbed through the skin. Ingestion and othe...more »
    145. Chemical poisoning -- Pepper Spray
     Pepper Spray is a chemical used mainly in riot control. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    146. Chemical poisoning -- Strychnine
     Strychnine is used as a rodenticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    147. Chemical poisoning -- Sulfuryl Fluoride
     Sulfuryl Fluoride is a chemical used mainly as a fumigant insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the ex...more »
    148. Chitty-Hall-Webb syndrome
     A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass....more »
    149. Chlamydia pneumoniae
     Specific bacterial type of pneumonia...more »
    150. Chordoma
     Chordomas are rare tumors that arise from embryonic notochordal remnants along the length of the neuraxis at developmentally active sites. These sites are the ends of the neuraxis and the vertebral bodies....more »
    151. Chromosome 1(q12q22) duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q12q22) of chromosome 1 which results in various abnormalities....more »
    152. Chromosome 1, monosomy 1p31 p22
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, missing teeth and small eyes and jaw....more »
    153. Chromosome 1, monosomy 1p34 p32
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems....more »
    154. Chromosome 1, monosomy 1q25 q32
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity....more »
    155. Chromosome 1, monosomy 1q32 q42
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies....more »
    156. Chromosome 1, monosomy 1q4
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects....more »
    157. Chromosome 1, pter-p36
     A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable....more »
    158. Chromosome 1, trisomy 1q32 qter
     A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities....more »
    159. Chromosome 1, uniparental disomy 1q12 q21
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    160. Chromosome 10, Monosomy 10p
    161. Chromosome 10p deletion syndrome
     A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities....more »
    162. Chromosome 10p duplication/10q deletion syndrome
     A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities....more »
    163. Chromosome 10p terminal deletion syndrome
     A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome....more »
    164. Chromosome 11, Partial Trisomy 11q
     A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severit...more »
    165. Chromosome 11q duplication syndrome
     A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated...more »
    166. Chromosome 12, 12p trisomy
     A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted....more »
    167. Chromosome 12, trisomy 12q
     A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on ...more »
    168. Chromosome 12p deletion
     A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    169. Chromosome 12p deletion syndrome
     A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities....more »
    170. Chromosome 12p duplication syndrome
     A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted....more »
    171. Chromosome 12p partial deletion
     A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    172. Chromosome 12p tetrasomy syndrome
     A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities....more »
    173. Chromosome 12q duplication syndrome
     A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy....more »
    174. Chromosome 13, Partial Monosomy 13q
     A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic m...more »
    175. Chromosome 13p duplication
     A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects....more »
    176. Chromosome 13q deletion
     A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic m...more »
    177. Chromosome 13q duplication syndrome
     A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities....more »
    178. Chromosome 13q partial deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted g...more »
    179. Chromosome 14 trisomy
     A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated....more »
    180. Chromosome 14 trisomy syndrome
     A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities....more »
    181. Chromosome 14, deletion 14q, partial duplication 14p
     A rare chromosomal disorder where deletion of a portion of chromosome 14 and duplication of another portion of chromosome 14 causes various abnormalities such as congenital heart defect, excessive skin on neck and mouth defects....more »
    182. Chromosome 14, trisomy mosaic
     A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients....more »
    183. Chromosome 14q, partial deletion
     A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities....more »
    184. Chromosome 14q, proximal duplication
     A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature....more »
    185. Chromosome 15 Ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    186. Chromosome 15 inverted duplication
     A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities....more »
    187. Chromosome 15 trisomy
     A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15....more »
    188. Chromosome 15q duplication syndrome
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    189. Chromosome 15q tetrasomy syndrome
     A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities....more »
    190. Chromosome 15q, partial duplication (distal q arm)
     A rare chromosomal disorder involving an extra copy of genetic material from the distal part of the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    191. Chromosome 15q, tetrasomy
     A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the ...more »
    192. Chromosome 15q, trisomy
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    193. Chromosome 16p, partial duplication
     A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    194. Chromosome 16q, partial deletion
     A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material....more »
    195. Chromosome 16q, partial duplication
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in sponta...more »
    196. Chromosome 17p, partial duplication
     A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    197. Chromosome 17q, partial duplication
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    198. Chromosome 18, Tetrasomy 18p
     A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities....more »
    199. Chromosome 18, trisomy 18q
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    200. Chromosome 19 ring syndrome
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    201. Chromosome 19p duplication syndrome
     A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities....more »
    202. Chromosome 19q, partial duplication
     A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion....more »
    203. Chromosome 1p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    204. Chromosome 1q deletion
     A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    205. Chromosome 1q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    206. Chromosome 2, monosomy 2q
     A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    207. Chromosome 2, trisomy 2q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    208. Chromosome 20, deletion 20p
     A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    209. Chromosome 20p deletion syndrome
     A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    210. Chromosome 20q duplication syndrome
     A rare chromosomal disorder involving a duplication of the long arm (q) of chromosome 20 resulting in various physical and developmental abnormalities....more »
    211. Chromosome 21 monosomy
     A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities....more »
    212. Chromosome 21, tetrasomy 21q
     A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies....more »
    213. Chromosome 21q deletion syndrome
     A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients....more »
    214. Chromosome 21q, partial deletion
     A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted....more »
    215. Chromosome 22 trisomy mosaic
     A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material....more »
    216. Chromosome 22, monosome mosaic
     A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is delet...more »
    217. Chromosome 22, monosomy mosaic
     A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies....more »
    218. Chromosome 22, trisomy
     A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage....more »
    219. Chromosome 2p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    220. Chromosome 2q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    221. Chromosome 3, Trisomy 3q2
     A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 3. The symptoms are determined by the size and exact location of the duplicated portion....more »
    222. Chromosome 3, monosomy 3q13
     A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility....more »
    223. Chromosome 3, trisomy 3p
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two....more »
    224. Chromosome 3, trisomy 3q
     A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair gro...more »
    225. Chromosome 3, trisomy 3q13 2 q25
     A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies....more »
    226. Chromosome 4 short arm deletion
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    227. Chromosome 4, monosomy 4p14 p16
     A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies....more »
    228. Chromosome 4, trisomy 4p
     A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two....more »
    229. Chromosome 4, trisomy 4q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    230. Chromosome 4p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    231. Chromosome 4p15-16 deletion syndrome
     A rare chromosomal disorder where part of the short arm (p15-16) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    232. Chromosome 4q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    233. Chromosome 6 Ring
     A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion....more »
    234. Chromosome 6 ring syndrome
     A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion....more »
    235. Chromosome 6, monosomy 6p23
     A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems....more »
    236. Chromosome 6, monosomy 6q
     A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material....more »
    237. Chromosome 6, monosomy 6q1
     A rare chromosomal disorder involving the deletion of a portion of the long arm of chromosome 6....more »
    238. Chromosome 6, partial trisomy 6q
     Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable....more »
    239. Chromosome 6, trisomy 6q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    240. Chromosome 6p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    241. Chromosome 6q deletion syndrome
     A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material....more »
    242. Chromosome 6q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    243. Chromosome 7, monosomy 7q3
     A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities....more »
    244. Chromosome 7q partial deletion
     A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of deleted genetic material....more »
    245. Chromosome 8 recombinant syndrome
     A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities....more »
    246. Chromosome 8 ring
     A rare chromosomal disorder involving chromosome 8 which causes various abnormalities such as mental retardation, ureter anomalies, finger defects and facial dysmorphism....more »
    247. Chromosome 8 trisomy syndrome
     A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities....more »
    248. Chromosome 8, Monosomy 8p2
     A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted....more »
    249. Chromosome 8, Monosomy 8p21-pter
     A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted....more »
    250. Chromosome 8, monosomy 8q
     A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    251. Chromosome 8, partial trisomy
     A rare chromosomal disorder where there are three copies of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material...more »
    252. Chromosome 8, trisomy
     A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is...more »
    253. Chromosome 8, trisomy 8q
     A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted....more »
    254. Chromosome 8p duplication syndrome
     A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated....more »
    255. Chromosome 8p inverted duplication syndrome
     A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of th...more »
    256. Chromosome 8q deletion syndrome
     A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material....more »
    257. Chromosome 8q duplication syndrome
     A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted....more »
    258. Chromosome 9 trisomy syndrome
     A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities....more »
    259. Chromosome 9, Partial Monosomy 9p
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities. The type and severity of symptoms is determined by the amount of genetic material that is missing....more »
    260. Chromosome 9, Tetrasomy 9p
     A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities....more »
    261. Chromosome 9, Trisomy 9p (Multiple Variants)
     A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities....more »
    262. Chromosome 9, monosomy 9p
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities....more »
    263. Chromosome 9, partial trisomy 9p
     A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic mate...more »
    264. Chromosome 9, trisomy
     A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic m...more »
    265. Chromosome 9, trisomy 9p
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two....more »
    266. Chromosome 9, trisomy 9q
     A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic mater...more »
    267. Chromosome 9, trisomy 9q32
     A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies....more »
    268. Chromosome 9/mosaic
     A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material....more »
    269. Chromosome 9p deletion syndrome
     A rare genetic disorder where a portion of the genetic material from the short arm of chromosome 9 is missing. The symptoms or severity may vary somewhat between patients....more »
    270. Chromosome 9p tetrasomy syndrome
     A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities....more »
    271. Chromosome 9q duplication
     A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic mater...more »
    272. Chromosome 9q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities....more »
    273. Classical Hodgkin disease
     Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be ...more »
    274. Cockayne syndrome type 1
     A rare inherited condition characterized by short stature, light sensitivity and a prematurely aged appearance. Type 1 is an early-onset form and involves progressive symptoms that usually start after 1 year of age....more »
    275. Coleman Randall syndrome
     A rare condition (one reported case) characterized by deafness, underdeveloped gonads, pili torti and a deficiency of growth and luteinizing hormone....more »
    276. Congenital absence of the sternocleidomastoid muscle
     Absent neck muscle - in particular, the muscle that runs from behind the ear and down to the collar bones. These muscles allow the hear to flex and rotate. One or both of the muscles may be absent....more »
    277. Congenital adrenal hyperplasia -- simple virilizing form in males
     A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females....more »
    278. Congenital disorder of glycosylation type 1/IIX
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type I/IIX refers to cases where the specific abnorma...more »
    279. Congenital disorder of glycosylation type 1H
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ih is caused by a defect on chromosome 11pter-p1...more »
    280. Congenital disorder of glycosylation type 2E
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2e is caused by a defect on chromosome 16p and i...more »
    281. Contractures, congenital, torticollis and malignant hyperthermia
     A very rare syndrome characterized by contractures, torticollis and a hyperthermic reaction to general anesthetics....more »
    282. Cormier Rustin Munnich syndrome
     Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency....more »
    283. Cornelia de Lange Syndrome
     A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable....more »
    284. Cornelia de Lange syndrome 1
     A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable....more »
    285. Corpus callosum agenesis double urinary collecting
     A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder....more »
    286. Corpus callosum agenesis double urinary collecting system and trigonocephaly
     A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder....more »
    287. Costello syndrome
     A rare genetic disorder characterized by papillomas which may become malignant....more »
    288. Cowden's syndrome
     A rare hereditary condition characterized by multiple noncancerous nodules called hamartomas. Sufferers also face an increased risk of particular cancers....more »
    289. Crane-Heise syndrome
     A very rare fatal disorder characterized by numerous abnormalities....more »
    290. Cranio-facio-cardio-skeletal dysplasia
     A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities....more »
    291. Craniofaciocervical osteoglyphic dysplasia
     A very rare syndrome characterized by a short head and face, skeletal anomalies and destruction of tooth sockets....more »
    292. Cri-du-chat syndrome
     A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry....more »
    293. Croup
     Respiratory infection with a characteristic cough...more »
    294. Cryptococcal Meningitis
     Cryptococcal meningitis is an infection of the meninges (the membranes covering the brain and spinal cord), caused by the fungus Cryptococcus neoformans....more »
    295. Cushing's disease
    296. Cushing's syndrome
     A rare syndrome where excessive secretion of corticosteroids by the adrenal cortex leads to a variety of symptoms. Hormone-secreting adrenal or pituitary tumors are often the cause of the excessive corticosteroid secretion....more »
    297. Cutler Syndrome
     A rare disorder characterized by multisystem disorders including muscle wasting, ataxia, epilepsy, anemia and kidney disease. The kidney disease is most likely present at birth....more »
    298. Cutler-Bass-Romshe syndrome
     A very rare syndrome characterized by kidney, neurological and thyroid problems....more »
    299. Cystic hygroma, lethal -- cleft palate
     A very rare lethal syndrome characterized mainly by cysts that form in the lymphatic system as well as an opening in the palate (cleft palate)....more »
    300. Daneman Davy Mancer syndrome
     A very rare syndrome characterized mainly by kidney, thyroid and finger and toe abnormalities....more »
    301. Deafness -- goiter -- stippled epiphyses
     A congenital metabolic disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone....more »
    302. Deafness -- thyroid hormone resistance
     An inherited disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone....more »
    303. Degenerative Disc Disease
     Chronic or recurrent back and neck pain due to degeneration and occasionally prolapse of spinal discs....more »
    304. Del (2) (q37.1-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    305. Del (2) (q37.1-qter) and dup (14) (q31.2-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    306. Del (3) (q11-q21)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    307. Del(1) (q25-q32)
     A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable....more »
    308. Del(1) (q41-qter)
     A very rare chromosomal disorder where a portion of the long arm (q41-qter) of chromosome one is missing. The type and severity of symptoms is variable....more »
    309. Del(1) (q42-qter)
     A very rare chromosomal disorder where a portion of the long arm (q42-qter) of chromosome one is missing. The type and severity of symptoms is variable....more »
    310. Delayed Viral Syndromes
     Syndromes caused by viral infections that are delayed in there appearance...more »
    311. Deletion 10pter
     A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome....more »
    312. Deletion 10q
     A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted....more »
    313. Deletion 14q partial duplication 14p partial
     A rare chromosomal disorder where deletion of a portion of chromosome 14 and duplication of another portion of chromosome 14 causes various abnormalities such as congenital heart defect, excessive skin on neck and mouth defects. The type and severity of s...more »
    314. Deletion of the Short Arm of Chromosome 1
     A condition characterized by deletion of the short arm of chromosome 1...more »
    315. Dental abscess
     Abscess of tooth, gum, or jawbone...more »
    316. Desbuquois dysplasia
     A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities....more »
    317. Developmental delay -- hypotonia extremities hypertrophy
     A very rare syndrome characterized mainly by poor muscle tone, developmental delay....more »
    318. Diabetic neuropathy
     Nerve damage from diabetes affecting any body part; most commonly feet....more »
    319. Diamond-Blackfan anemia
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    320. Diffuse large B-cell lymphoma
     A common form of non-Hodgkin's lymphoma characterized by abnormal proliferation of B-lymphocytes. It is a cancer of the B-lymphocytes (a type of white blood cell) which, if untreated, can spread to other parts of the body such as the bones and the liver. ...more »
    321. Diphtheria
     Infectious bacterial respiratory disease...more »
    322. Distal Myopathy 1
     An inherited muscle condition that tends to mainly affect the end portions of arms and legs - hands, feet, forearms and lower legs. There are three subtypes which are distinguished by the origin of the genetic defect. Type 1 is linked to a defect on chrom...more »
    323. Distal arthrogryposis, Moore-Weaver type
     A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities....more »
    324. Distal trisomy 6q
     Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable....more »
    325. Distinctive Craniofacial Features -- Pterygia -- Mental Retardation
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    326. Down Syndrome
     A chromosome syndrome causing physical effects and mental retardation....more »
    327. Dreyfus syndrome
     A rare syndrome characterized by flattened vertebrae, kyphoscoliosis, spinal ankylosis, short neck, dwarfism and other abnormalities....more »
    328. Duane anomaly -- mental retardation
     A very rare syndrome characterized mainly by mental retardation and eye movement problems (Duane anomaly)....more »
    329. Dup (1) (q21.2-qter) and dup (14)(pter-q13)
     A very rare chromosomal disorder where a portion of the long arm (q21.2-qter) of chromosome one and the long arm of chromosome 14 (pter-q13) is duplicated. In the reported case, the fetus was aborted....more »
    330. Dup (3) (pter-p23)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fifteen reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    331. Dup (3) (pter-p25)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in nine reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    332. Dup (3) (q12-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    333. Dup (3) (q12-qter) and del (X) (pter-p21)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    334. Dup (3) (q21-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fourteen reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    335. Dup (3) (q25-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    336. Duplication 6q, partial
     Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable....more »
    337. Dwarfism -- syndesmodysplasic
     A very rare form of dwarfism involving extremely short stature and progressive joint stiffness....more »
    338. Dyggve-Melchior-Clausen Syndrome
     A rare genetic bone growth disorder characterized by short stature and other skeletal deformities....more »
    339. Dystonia 1, Torsion, Autosomal Dominant
     A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body....more »
    340. Dystonia 4, Torsion, Autosomal Dominant
     An inherited movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction. Usually speech is affected first....more »
    341. Dystonia 7, torsion
     A rare dominantly inherited movement disorder. The muscles contract involuntarily causing involuntary twisting movements. Type 7 is caused by a genetic defect on chromosome 18p. The severity of the condition is variable and usually only one part of the bo...more »
    342. Dystonia Musculorum Deformans 1
     A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body....more »
    343. Dystonia musculorum deformans type 1
     A rare movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The trunk, neck and limbs are usually involved first....more »
    344. Dystonia musculorum deforms 4
     A rare dominantly inherited movement disorder. The muscles contract involuntarily causing involuntary movements....more »
    345. Dystonia with cerebellar atrophy
     A recessively inherited movement disorder (dystonia) which responds poorly to Levodopa treatment and involves wasting of part of the brain....more »
    346. Elejalde syndrome
     A rare congenital syndrome characterized excessive fetal growth, skull abnormalities, extra fingers or toes and other abnormalities....more »
    347. Ellis-Yale-Winter syndrome
     A rare condition characterized by the association of a small head, congenital heart disease, lung segmentation defects and a missing kidney....more »
    348. Emanuel syndrome
     A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure t...more »
    349. Emery-Dreifuss Muscular Dystrophy 1
     A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction defects. Type 1 is linked to a defect on chromosome Xq28. Because the condition i...more »
    350. Emery-Dreifuss Muscular Dystrophy 2
     A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction defects. Type 2 is linked to a defect on chromosome 1q21.2. Because the condition...more »
    351. Emery-Dreifuss Muscular Dystrophy 3
     A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures. Type 3 is linked to a defect on chromosome 1q21.2. Because the condition is inherited in an autosomal...more »
    352. Emery-Dreifuss Syndrome
     A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction disorders. In cases with X-linked inheritance, female carriers may have only the ...more »
    353. Emery-Dreifuss muscular dystrophy, X-linked
     A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms....more »
    354. Emery-Dreifuss muscular dystrophy, dominant type
     A rare disorder characterized by slowly-progressing weakness and wasting of skeletal and heart muscles. The dominant form of the disease is associated with greater variability of symptoms....more »
    355. Encephalitis
     Dangerous infection of the brain...more »
    356. Encephalomyelitis
     Inflammation of the brain and spinal cord....more »
    357. Endomyocardial fibrosis
     Heart disease characterized by progressive fibrosis of the lining of one or both lower heart cavities. This results in constriction of the heart cavity and may involve the heart valves and other structures....more »
    358. Epidermoid carcinoma
     A non-small-cell type of lung cancer. The cancer develops from cells that line the inside of the lungs....more »
    359. Epstein-Barr virus
     Common virus causing mononucleosis...more »
    360. Erythema chronicum migrans
     The first stage of Lyme disease which is transmitted by the bite of the Ixodid tick. The first stage involves a skin rash with systemic symptoms also often occurring....more »
    361. Erythromycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Erythromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the...more »
    362. Escobar syndrome, type B
     A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine....more »
    363. Esophageal carcinoma
     A cancer of the esophagus....more »
    364. Esophagus Cancer
     Cancer of the esophagus in the throat....more »
    365. Exertional headaches
     Headaches that occur after physical exertion...more »
    366. Facet syndrome
     An irritation, sprain or strain involving the vertebral joints of the spine. The exact symptoms may vary depending on the part of the spine involved. The condition most often results osteoarthritis, degenerative disc disease or injury....more »
    367. Facial dysmorphism -- shawl scrotum -- joint laxity syndrome
     A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum....more »
    368. Felty Syndrome
     A rare complication of long-term rheumatoid arthritis which involves an enlarged spleen and blood abnormalities....more »
    369. Fetal Hydantoin Syndrome
     A rare disorder caused by fetal exposure to phenytoin (anticonvulsant drug) and resulting in various abnormalities....more »
    370. Fibrochondrogenesis
     A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death....more »
    371. Floating Harbor Syndrome
     A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay....more »
    372. Follicular Lymphoma, Susceptibility to, 1
     Follicular lymphoma is a form of non-Hodgkin's lymphoma characterized by an abnormal proliferation of B-lymphocytes. It is a cancer of the B-lymphocytes (a type of white blood cell) which, if untreated, can spread to other parts of the body such as the bo...more »
    373. Follicular lymphoma
     A form of non-Hodgkin's lymphoma characterized by an abnormal proliferation of B-lymphocytes. It is a cancer of the B-lymphocytes (a type of white blood cell) which, if untreated, can spread to other parts of the body such as the bones and the liver. It d...more »
    374. Franke triad
     A term used to describe the association of palate abnormalities, deviated nasal septum and enlarged adenoids....more »
    375. Fried-Goldberg-Mundel syndrome
     A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males....more »
    376. Froster-Iskenius-Waterson syndrome
     A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles....more »
    377. Fryns macrocephaly
     A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance....more »
    378. Fryns-Aftimos syndrome
     A rare syndrome characterized mainly by abnormal brain development, epilepsy, mental retardation and unusual facial appearance....more »
    379. Fungal meningitis
     Fungal meningitis is an infection that causes swelling and irritation of the tissue around the brain and spinal cord. It usually strikes people whose weakened immune systems can't fight off infection. The disease is not common. but it can be very serious....more »
    380. Gall bladder conditions
     Any condition that affects the gallbladder...more »
    381. Gaucher disease type 2
     A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 2 is acute neurological for...more »
    382. Gelineau's syndrome
     A neurological disorder sudden uncontrollable urge to sleep, sleep paralysis and other symptoms....more »
    383. Generalized resistance to thyroid hormone
     An inherited disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone....more »
    384. Gerlier disease
     A disease that occurs usually in farm workers who are exposed to cattle. The condition is usually seen in some parts of Switzerland. Symptoms tend to resolve themselves within a few months....more »
    385. Glycine synthase deficiency
     A rare genetic disorder characterized by high blood glycine levels which is toxic to the body. The severity of the condition varies according to the degree of deficiency and age of onset. The classical neonatal form is generally quite severe, the atypical...more »
    386. Glycine synthase deficiency, type 1
     A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the P protein (pyridoxal phosphate-dependent glycine decarboxylase) in the energy creating center of cells (mitochondria)....more »
    387. Glycine synthase deficiency, type 2
     A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the T protein (tetrahydrofolate-requiring enzyme) in the energy creating center of cells (mitochondria)....more »
    388. Goiter
     Swollen neck thyroid gland...more »
    389. Golden-Lakin syndrome
     A rare syndrome characterized by a webbed neck, sunken chest, curved spine and various other abnormalities....more »
    390. Gonorrhea
     Common sexually transmitted disease often without symptoms....more »
    391. Granulomatous amebic encephalitis
     Brain/CNS infection from Acanthamoeba bacteria...more »
    392. Granulomatous amoebic encephalitis
     A rare opportunistic brain infection caused by certain amoeba - Acanthamoeba or Balamuthia amoebae. The amoeba generally only causes encephalitis in people who are immunocompromised or have a chronic disease such as diabetes. The amoeba initially cause pn...more »
    393. Graves Disease
     is an autoimmune disease characterized by hyperthyroidism due to circulating autoantibodies. Thyroid-stimulating immunoglobulins (TSIs) bind to and activate thyrotropin receptors, causing the thyroid gland to grow and the thyroid follicles to increase syn...more »
    394. Growth Retardation, Developmental Delay, Coarse Facies and Early Death
     A rare syndrome observed in a family involving related parents and characterized mainly by retarded growth, developmental delay, coarse facial appearance and early death....more »
    395. Guillain-Barre Syndrome
     A rare progressive form of ascending polyneuropathy believed to be an autoimmune response....more »
    396. HAIR-AN Syndrome
     A very rare syndrome that affects females only and is characterized mainly by insulin resistance, dark velvety patches of skin and increased male hormone production in females....more »
    397. HHV-6 encephalitis
     A rare condition that usually occurs in immunocompromised people such as those undergoing transplants or HIV patients. The condition causes neurological symptoms....more »
    398. HIV like lymphadenopathy
     Painless lymphadenopathy....more »
    399. HIV-1, CRF36_cpx
     HIV is an immune system disease caused by the HIV virus. AIDS is a term used when a person infected with HIV has a CD4+ T cell count below 200 or 14% of lymphocytes. AIDS is an advanced form of HIV. To be classified as AIDS the person must also have an AI...more »
    400. Halal syndrome
     A very rare syndrome characterized mainly by a small head and a cleft palate....more »
    401. Haspeslagh Fryns Muelenaere syndrome
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    402. Headache-free migraine
     A syndrome with no headache but other migraine-like symptoms...more »
    403. Heart attack
     Serious and often fatal acute heart condition...more »
    404. Heartburn
     Pain from stomach acid coming back up the esophagus...more »
    405. Hemophilus influenzae B
     Bacterial respiratory infection with dangerous complications....more »
    406. Hereditary amyloidosis
     An inherited form of amyloidosis which is characterized by a build up of the protein amyloid in tissues and organs. This form of amyloidosis tends to affect mainly the nervous system and gastrointestinal tract. Symptoms are determined by the size and loca...more »
    407. Herniated disc
     A misaligned or "slipped" disc in the spine....more »
    408. Herrmann-Opitz craniosynostosi
     A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance....more »
    409. Hilger syndrome
     A type of headache caused by dilation of the carotid arteries and their branches. It may follow a viral illness, be associated with arteriosclerosis or occur for no obvious reason. Treatment and prognosis is determined by the cause....more »
    410. Hip cancer
     The presence of tumour growth in the bone of the hip, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast; cancer affecting bone of hip likely ...more »
    411. Hodgkin's Disease
     A form of cancer that affects the lymphatic system....more »
    412. Human Papillomavirus
     Very common sexually transmitted disease causing genital warts and associated with certain cancers....more »
    413. Hunter-Carpenter-Macdonald syndrome
     A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome....more »
    414. Huntington's Disease
     Inherited disease causing progressive mental deterioration....more »
    415. Hurler syndrome
    416. Hyper IgM syndrome 1
     Hyper IgM syndrome is a rare inherited immunodeficiency disorder which causes frequent infections involving the ears, eyes, sinuses, lungs, skin, respiratory tract and other areas of the body. Type 1 is caused by a defect on chromosome Xq26 and tends to a...more »
    417. Hyper IgM syndrome 3
     Hyper IgM syndrome is a rare inherited immunodeficiency disorder which causes frequent infections involving the ears, eyes, sinuses, lungs, skin, respiratory tract and other areas of the body. Type 3 is caused by a defect on chromosome 20q12-q13.2....more »
    418. Hyper IgM syndrome 4
     Hyper IgM syndrome is a rare inherited immunodeficiency disorder which causes frequent infections involving the ears, eyes, sinuses, lungs, skin, respiratory tract and other areas of the body. Type 4 does not involve an increased risk of opportunistic inf...more »
    419. Hyper-IgM Syndrome
     A rare inherited immunodeficiency disorder which causes frequent infections involving the ears, eyes, sinuses, lungs, skin, respiratory tract and other areas of the body....more »
    420. Hyperadrenalism
     Excessive levels of adrenal hormones in the body. Symptoms depend on which hormone is involved and the degree of involvement. Adrenal hormones are aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine....more »
    421. Hyperandrogenism
     Excessive levels of androgen (male sex hormones) that can occur in males and females....more »
    422. Hypergammaglobulinemia
     An increase in the level of any of a number of gamma globulins. This can result from conditions such as chronic bacterial infections, multiple myeloma, lymphomas, dysproteinemias, liver disease and chronic granulomatous inflammations. The exact symptoms d...more »
    423. Hypersecretion of growth hormone
    424. Hyperthyroidism -- Teratogenic Agent
     There is strong evidence to indicate that the development of hyperthyroidism during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by th...more »
    425. Hypogonadism -- mitral valve prolapse -- mental retardation
     A very rare syndrome characterized mainly by a heart disorder, hypogonadism and mental retardation....more »
    426. Hypokinetic dysarthria
     A motor speech disorder caused by damage to the part of the brain called the basal ganglia which in turn affects the muscles involved in speech. Causes include infection. Stroke, tumor and ataxic cerebral palsy....more »
    427. Hypoparathyroidism, autoimmune
     A rare autoimmune condition characterized by the inflammation of the parathyroid glands and resulting in a deficiency of parathyroid hormones (parathormone). Parathormone helps controls calcium and phosphorus levels in the body. Symptoms become progressiv...more »
    428. Hypopharyngeal cancer
     Cancer of the bottom part of the throat (hypopharynx)....more »
    429. Hypothyroidism -- Teratogenic Agent
     There is strong evidence to indicate that the development of hypothyroidism during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the...more »
    430. Hypothyroidism due to iodide transport defect
     Low thyroid hormone levels in infants due to abnormal iodide transport in the body caused by a genetic defect. The severity of the condition varies depending on the extent of the defect and the length of time taken to diagnose the condition. Symptoms tend...more »
    431. Idiopathic dystonia DYT1
     A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body....more »
    432. Inborn errors of thyroid hormone synthesis related to hypothyroidism
     Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. This can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency....more »
    433. Inflammatory pelvic pain
     Inflammatory pelvic pain can be chr, cyclic,non cyclic, localized of generalized, or a combination. It affects women of reproductive age and older. It's important to note that sudden, severe pain with mass indicates a serious disorder such as an ectopic p...more »
    434. Inheritable disorders of connective tissue
     Disorders that affect the connective tissue of the body that are handed down from generation to generation...more »
    435. Insulin resistance, short fifth metacarpals
     A rare syndrome characterized by short fifth fingers and fifth hand bones as well as insulin resistance....more »
    436. Intervertebral disc disease
     Degenerative changes in the discs located between vertebrae. The severity of the disorder is variable....more »
    437. Intracranial Hemorrhages
     Bleeding inside the skull. The condition is a medical emergency and the greater the bleeding, the more severe the condition....more »
    438. Iodine (insufficiency) -- Teratogenic Agent
     There is evidence to indicate that a lack of Iodine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and t...more »
    439. Iodine -- Teratogenic Agent
     There is evidence to indicate that exposure to Iodine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and...more »
    440. Iodine deficiency
     Dietary deficiency of iodine affecting the thyroid....more »
    441. Iridogoniodysgenesis and skeletal anomalies
     A rare syndrome characterized by skeletal anomalies, congenital glaucoma and an unusual facial appearance....more »
    442. Isotretinoin embryopathy like syndrome
     A very rare syndrome which causes the same abnormalities and deformities that occur in fetal exposure to maternal use of isotretinoin....more »
    443. Japanese encephalitis
     A form of encephalitis caused by a flavivirus (Japanese B encephalitis virus - JBEV) and transmitted by mosquito bites. Most cases are mild and asymptomatic but severe cases can lead to death....more »
    444. Jequier-Kozlowski-skeletal dysplasia
     A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies....more »
    445. Johnson-Hall-Krous syndrome
     A rare congenital disorder characterized by cataracts, cleft palate, high nose bridge, extra finger and tongue abnormalities....more »
    446. Jugular lymphatic obstruction sequence
     A rare disorder caused by obstruction of the jugular lymphatic system due to problems during the fetal stage of development....more »
    447. KBG Syndrome
     A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones....more »
    448. Kawasaki disease
     A childhood illness that generally affects the skin, mouth and lymph nodes....more »
    449. Kennerknecht syndrome
     A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities. The observed cases involved a family whose parents were related....more »
    450. Kennerknecht-Sorgo-Oberhoffer syndrome
     A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart....more »
    451. Kernicterus
     A rare condition involving high blood levels of bilirubin which can also accumulate in the brain and lead to neurological problems....more »
    452. Keutel syndrome
     A rare genetic syndrome characterized by narrowing of blood flow through the pulmonary artery, calcification of cartilage (such as in nose, ear, ribs) and short end bones on fingers and toes...more »
    453. Klippel Feil Syndrome
     A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable....more »
    454. Klippel Feil deformity conductive deafness absent vagina
     A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature....more »
    455. Klippel-Feil syndrome recessive type
     A rare recessively inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable....more »
    456. Klippel-Feil syndrome, dominant type
     A rare dominantly inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable....more »
    457. Kniest-like dysplasia lethal
     A lethal syndrome characterized primarily by severe skeletal abnormalities....more »
    458. Koussef nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    459. Kousseff-Nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    460. Laing distal myopathy
     An inherited muscle disease characterized by early-onset weakness and wasting in the distal muscles. The disease progresses slowly and starts in the ends of the limbs but usually also involves the neck and eventually abdominal muscles....more »
    461. Laryngeal carcinoma
     Cancer of the laryngeal area. Smoking and alcohol increase the risk of this cancer....more »
    462. Larynx Cancer
     Cancer of the voice box or nearby areas....more »
    463. Larynx, congenital partial atresia of
     A birth defect where the larynx is obstructed. Usually a tracheostomy is required to permit normal breathing and prevent death....more »
    464. Lassa fever
     Infectious rat-borne West African disease....more »
    465. Launois-Bensaude adenolipomatosis
     A benign condition characterized by the development of lumps in the lymph nodes, especially in the neck, armpits and groin....more »
    466. Lemierre's syndrome
     A very rare condition where a throat infection leads to secondary infection and blood clot formation in the internal jugular vein. The infected blood clot can then travel to other parts of the body and cause problems. The usual bacterial culprit is Fusoba...more »
    467. Lepidopterism
     A systemic illness caused by contact with certain poisonous caterpillar spines or urticating hairs....more »
    468. Lethal arthrogryposis with anterior horn cell disease
     A lethal genetic disorder involving multiple contractures and facial abnormalities....more »
    469. Lethal arthrogryposis with anterior horn cell disease (LAAHD)
     A lethal disorder characterized by arthrogryposis and loss of anterior horn motor neurons which results in a lack of fetal movement....more »
    470. Leukodystrophy
     A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptom...more »
    471. Levothyroxine -- Teratogenic Agent
     There is evidence to indicate that exposure to Levothyroxine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    472. Lindstrom syndrome
     A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures....more »
    473. Liotrix -- Teratogenic Agent
     There is evidence to indicate that exposure to Liotrix during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure an...more »
    474. Listeriosis
     Bacterial food poisoning...more »
    475. Lubarsch-Pick syndrome
     A rare disorder involving abnormal amyloid deposits in various parts of the body - heart, skin, muscles, stomach and intestines....more »
    476. Lumbar malsegmentation -- short stature
     A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine....more »
    477. Lumbar malsegmentation, short stature and facial anomalies
     A rare syndrome characterized by vertebral abnormalities, short stature and facial anomalies....more »
    478. Lung Cancer Susceptibility 1
     Researchers have linked a number of genes to an increased risk of developing lung cancer. The genetic predisposition plus environmental factors and lifestyle factors such as smoking translate to an increased risk of cancer. The genetic predisposition is b...more »
    479. Lung Cancer Susceptibility 2
     Researchers have linked a number of genes to an increased risk of developing lung cancer. The genetic predisposition plus environmental factors and lifestyle factors such as smoking translate to an increased risk of cancer. The genetic predisposition is b...more »
    480. Lung Cancer Susceptibility 3
     Researchers have linked a number of genes to an increased risk of developing lung cancer. The genetic predisposition plus environmental factors and lifestyle factors such as smoking translate to an increased risk of cancer. The genetic predisposition is b...more »
    481. Lung Cancer Susceptibility 4
     Researchers have linked a number of genes to an increased risk of developing lung cancer. The genetic predisposition plus environmental factors and lifestyle factors such as smoking translate to an increased risk of cancer. The genetic predisposition is b...more »
    482. Lupus
     Autoimmune disease with numerous effects on various organs and linings....more »
    483. Lyme disease
     Lyme disease is an emerging infectious disease caused by at least three species of bacteria belonging to the genus Borrelia....more »
    484. Lymphangiomas
     A form of angioma caused by lymph vessels...more »
    485. Lymphocytic Choriomeningitis
     Rodent-borne viral disease often causing meningitis or encephalitis...more »
    486. Lymphoma
     Cancer involving lymph nodes and the immune system....more »
    487. Lymphomatous thyroiditis
     Progressive thyroid gland enlargement due to autoimmune disease....more »
    488. Lymphoproliferative Syndrome, X-Linked, 1
     A rare inherited immunodeficiency disorder where the body's immune systm is unable to respond appropriately to certain viral infections (Epstein Barr virus). The immune system becomes weakened following and EBV infection. As the condition in inherited in ...more »
    489. Lymphoproliferative Syndrome, X-Linked, 2
     A rare inherited immunodeficiency disorder where the body's immune systm is unable to respond appropriately to certain viral infections (Epstein Barr virus). The immune system becomes weakened following and EBV infection. As the condition in inherited in ...more »
    490. Lysteria monocytoigeneses meningitis
     A very rare form of meningitis (bacterial infection of the brain membrane or meninges) caused by Listeria monocytogenes. The condition is more common in the elderly and those with poor immune system and death is common....more »
    491. MPS-IV (Morquio Disease)
     A condition which is characterized by biochemically distinct mucopolysaccharidosis...more »
    492. MacDermot-Winter syndrome
     A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella)....more »
    493. Madelung's disease
     A rare disorder involving defective fat metabolism which leads to a buildup of fat deposits in neck and shoulder area. Mainly occurs in male alcoholics....more »
    494. Mantle cell lymphoma
     A form of non-Hodgkin's lymphoma (a cancer of the B-lymphocytes) which has a very poor prognosis with the 5-year survival rate being about 25%. The lymphoma can spread to other parts of the body such as the liver, spleen or bone marrow....more »
    495. Marfanoid -- mental retardation syndrome autosomal
     A very rare syndrome characterized mainly by psychomotor retardation, a flat face and some symptoms of Marfan syndrome (long arms and legs, tall stature, reduced skin fat and poor muscle tone)....more »
    496. Maroteaux-Stanescu-Cousin syndrome
     A very rare lethal syndrome characterized mainly by abnormal bone development....more »
    497. Masculinisation
     Increased male physical appearance in females...more »
    498. Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2)
     A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature....more »
    499. McCune-Albright Syndrome
     A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material....more »
    500. Meckel Syndrome
     A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks....more »
    501. Medrano-Roldan syndrome
     A very rare syndrome characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation....more »
    502. Megarbane-Jalkh Syndrome
     A rare condition reported in two related infants and involving a range of abnormalities such as developmental delay, unusual facial features, wrinkled skin, liver failure and fragile bones. One of the infants died before the age of 2 years due to liver fa...more »
    503. Meige syndrome
     A neurological movement disorder involving symptoms such as involuntary facial movements and eye muscle spasms....more »
    504. Melioidosis
     Bacterial infection from soil or water....more »
    505. Meningitis
     Dangerous infection of the membranes surrounding the brain....more »
    506. Meningitis-like neck stiffness
     Also known as neck rigidity....more »
    507. Meningococcal A
     Meningococcal meningitis is an infection that causes inflammation of the membranes covering the brain and spinal cord. Meningococcal meningitis A is caused by meningococcus A which is mostly common in hyperendemic areas in Africa known as the meningitis b...more »
    508. Meningococcal B
     Meningococcal meningitis B is an infection that causes inflammation of the membranes covering the brain and spinal cord....more »
    509. Meningococcal C
     Meningitis C is a strain of meningococcal meningitis, a bacterial infection of the membranes surrounding the brain and spinal cord....more »
    510. Meningococcal disease
     Dangerous bacterial infection causing meningitis or bacteremia....more »
    511. Meningococcal infection
     A rare infectious disease caused by a bacterium called Neisseria meningitides....more »
    512. Mental Retardation -- Pterygia -- Shortness -- Distinctive Facial Appearance
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    513. Mental retardation -- blepharophimosis -- obesity -- web neck
     A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck....more »
    514. Mental retardation -- short stature -- deafness -- genital
     A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities....more »
    515. Mental retardation -- unusual facies -- talipes -- hand anomalies
     A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities....more »
    516. Mental retardation, X-linked, 91
     A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the ZDHHC15 gene on chromosome Xq13.3....more »
    517. Mental retardation, X-linked, Vitale type
     A rare disorder characterized by mental retardation and facial and skeletal anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The ...more »
    518. Mesomelia radial hypoplasia bifid thumb unusual facies
     A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities....more »
    519. Metabolic disorders
     Disorders that affect the metabolic system in human...more »
    520. Metastatic squamous neck cancer with occult primary
     A type of cancer that occurs in the neck and has spread (metastasized) to the lymph nodes from a primary source that has not been able to be determined. Squamous cells are cells that line hollow organs as well as the skin and throat....more »
    521. Methimazole -- Teratogenic Agent
     There is evidence to indicate that exposure to Methimazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposur...more »
    522. Metronidazole -- Teratogenic Agent
     There is evidence to indicate that exposure to Metronidazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    523. Microcephaly -- cervical spine fusion anomalies
     A very rare syndrome characterized mainly by a small head and fused neck vertebrae....more »
    524. Microcephaly -- seizures -- mental retardation -- heart disorders
     A very rare syndrome characterized mainly by a small head, seizures, mental retardation and heart disorders....more »
    525. Microlissencephaly -- micromelia
     A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death....more »
    526. Micromelic dwarfism, Fryns type
     A very rare syndrome characterized mainly by short-limbed dwarfism....more »
    527. Microsomia -- hemifacial -- radial defects
     A very rare syndrome characterized mainly by a wide range of defects involving the face, ear, mouth, vertebrae and radial bones....more »
    528. Minicore disease
     A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive for...more »
    529. Minicore myopathy, antenatal onset, with arthrogryposis
     A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive for...more »
    530. Mononucleosis
     Common infectious virus....more »
    531. Monosomy 8q21 q22
     A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities....more »
    532. Moraxella catarrhalis infection
     An infectious disease caused by Moraxella catarrhalis. Moraxella catarrhalis can be found in the upper respiratory tract and is often harmless and asymptomatic. However, it can also cause ear infections and sinusitis, bronchopulmonary infection as well as...more »
    533. Morquio syndrome type A
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down....more »
    534. Morquio syndrome, type B
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down....more »
    535. Mucopolysaccharidoses
     A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans...more »
    536. Mucopolysaccharidosis IV
     Disorder of mucopolysaccharide metabolism in infants....more »
    537. Mucopolysaccharidosis VI
     A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans...more »
    538. Mucopolysaccharidosis type 2 Hunter syndrome- severe form
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down....more »
    539. Mucopolysaccharidosis type I Hurler syndrome
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types...more »
    540. Mucopolysaccharidosis type I Scheie syndrome
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-iduronidase) needed to break it down....more »
    541. Mullerian Aplasia -- Renal Aplasia -- Cervicothoracic Somite Dysplasia
     A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature....more »
    542. Mullerian derivatives -- lymphangiectasia -- polydactyly
     A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia....more »
    543. Multicore disease
     A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable....more »
    544. Multiminicore disease (MmD)
     A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), pr...more »
    545. Multiple pterygium syndrome
     A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies....more »
    546. Multiple pterygium syndrome lethal type
     A rare syndrome characterized by skin, muscle and skeletal anomalies and fetal death....more »
    547. Multiple pterygium syndrome, autosomal recessive
     A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies....more »
    548. Muscle contraction headache
     Headache from tension or muscle contraction....more »
    549. Myasthenia Gravis
     An autoimmune disorder which interferes with nerve impulses to muscles and hence results in weak, easily fatigued muscles....more »
    550. Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
     A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms....more »
    551. Mycobacterium bovis
     A form of mycobacterium...more »
    552. Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
     A condition where abnormal function of the bone marrow results in insufficient production of normal blood cells. The disorder is caused by the deletion of genetic material from chromosome 5q....more »
    553. Myoclonic dystonia
     A very rare inherited syndrome characterized mainly by mild dystonia and myoclonic jerks that occur mainly in the arms, neck and trunk. Alcohol makes the condition worse. Psychiatric disorders are also often present....more »
    554. Myopathy, X-linked with postural muscle atrophy
     An inherited, adult-onset muscle disease where the postural muscles become progressively weak and wasted while other muscles become enlarged. During early adulthood, patients tend to have an athletic build and muscle symptoms tend to start during the four...more »
    555. Naegleria
     Rare bacterial infection from contaminated water...more »
    556. Narrow oral fissure -- short stature -- cone-shaped epiphyses
     A very rare syndrome characterized mainly by narrow mouth opening, short stature and abnormal bone development....more »
    557. Nasopharyngeal carcinoma
     A malignant cancer that occurs in the nasopharynx area which is the upper part of the throat. Often there are no symptoms until the cancer has metastasized to other parts of the body such as the neck....more »
    558. Nasopharynx cancer
     A condition which is characterized a malignancy located in the nasopharynx...more »
    559. Neck Arthritis
     Degenerative arthritic changes in the neck causing pain and loss of function; may be due to age-related degenerative change (osteoarthritis) or due to autoimmune disease (rheumatoid arthritis)...more »
    560. Neck Cancer
     Any cancer that occurs in the neck...more »
    561. Neck conditions
     Any condition that affects the neck...more »
    562. Neck injury
     Any injury that occurs to the neck...more »
    563. Neck muscle strain
     Damage to the neck muscle due to over-stretching of the muscle tissue. The damage involves tearing the muscle tissue. Small blood vessels may also be damaged which can cause bruising. The symptoms may vary from mild to severe depending on the severity of ...more »
    564. Nemalin myopathy, late onset type
     A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemalin rods in the muscle tissue which affects its function. The muscle weakness may be severe but is generally not a progressive condition. The main ...more »
    565. Neonatal bacterial meningitis
     Bacterial meningitis that occurs in an infant under 3 months of age. Bacterial meningitis is a bacterial brain infection....more »
    566. Neu-Laxova Syndrome
     A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage....more »
    567. Neuroblastoma
     Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue....more »
    568. Neuroblastoma, Susceptibility to
     Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a ...more »
    569. Neuroblastoma, Susceptibility to, 1
     Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a ...more »
    570. Neuroblastoma, Susceptibility to, 2
     Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a ...more »
    571. Neuroblastoma, Susceptibility to, 3
     Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a ...more »
    572. Neuroblastoma, Susceptibility to, 4
     Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a ...more »
    573. Neuroblastoma, Susceptibility to, 5
     Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a ...more »
    574. Neuroblastoma, Susceptibility to, 6
     Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a ...more »
    575. Neurofibromatosis-Noonan syndrome
     A rare disorder where the patients has symptoms of neurofibromatosis (nerve tumors) and Noonan syndrome (short stature, bleeding problems, heart defect, unusual facial features, skeletal anomalies, webbed neck)....more »
    576. Neurosyphilis -- tabes dorsalis
     A complication of untreated syphilis where the infection invades the spinal cord and progressively impairs muscle function and nerve damage may also occur. This form of the condition is progressive and life-threatening....more »
    577. Nevoid basal cell carcinoma syndrome
     A rare genetic disorder characterized by basal cell carcinomas, broade face and rib abnormalities....more »
    578. Nicotine addiction
     Nicotine addiction is the uncontrollable desire to continue smoking. Smoking products contain nicotine which is a chemical that can lead to addiction if used over a period of time. Cessation causes withdrawal symptoms which can vary in nature and severity...more »
    579. Nodular goiter
     A condition which is characterized by a goiter with nodules within the gland...more »
    580. Nodular sclerosing Hodgkin's lymphoma
     Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be ...more »
    581. Non-Hodgkin's Lymphoma
     A type of lymphoma, a cancer affecting lymph nodes and the immune system....more »
    582. Non-Hodgkin's lymphoma, during pregnancy
     A cancer that originates in the lymphatic system and occurs during pregnancy. The greatest problem is the fact that the cancer is usually quite aggressive and delays in delivery often results in delayed treatment and a poor prognosis....more »
    583. Non-Small Cell Lung Cancer
     It is any type of lung cancer other than small cell carcinoma (SCLC). As a class, NSCLCs are relatively insensitive to chemotherapy, compared to small cell carcinoma...more »
    584. Non-Specific Urethritis
     Urethral infection usually sexually transmitted...more »
    585. Nonkeratan-sulfate-excreting Morquio syndrome
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other s...more »
    586. Nonspecific genitourinary infections
     A condition which is characterized by a genitourinary infection like symptoms without a specific cause being found...more »
    587. Noonan Syndrome
     A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis....more »
    588. Noonan syndrome 3
     A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies....more »
    589. Noonan-like syndrome
     A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest....more »
    590. Occupational Cancer -- Hodgkin's lymphoma
     Occupational exposure to wood dust can increase the risk of developing Hodgkin's lymphoma....more »
    591. Occupational Cancer -- Larynx cancer
     Occupational exposure to mustard gas can increase the risk of developing larynx cancer....more »
    592. Occupational Cancer -- Lung cancer
     Occupational exposure to arsenic can increase the risk of developing lung cancer....more »
    593. Occupational Cancer -- Respiratory tract cancer
     People employed in occupations which involves chronic exposure to arsenic, asbestos, cadmium, beryllium, chromium, diesel exhaust, silica and nickel can lead to an increased risk of developed respiratory tract cancers such as bronchial cancer, lung cancer...more »
    594. Oculo cerebro acral syndrome
     A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities....more »
    595. Oculo-cerebro-acral, (Roberts-like)-ectrodactyly
     A rare condition characterized by abnormalities of the eye, brain and extremeties as well as split hand and foot deformities....more »
    596. Okamuto Satomura syndrome
     A very rare syndrome characterized mainly by kidney, heart and facial abnormalities as well as reduced muscle tone and mental retardation....more »
    597. Omsk hemorrhagic fever
     A hemorrhagic fever caused by a virus. A serious outbreak occurred in Omsk and hence the name. Transmission occurs through tick bites. The infection has two phases: the first acute phase involves symptoms such as fever, rash and muscle pain and the second...more »
    598. Ophthalmoplegia, progressive external -- scoliosis
     A very rare syndrome characterized mainly by progressive eye muscle weakness and scoliosis....more »
    599. Opitz-Reynolds-Fitzgerald syndrome
     A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face....more »
    600. Oppenheim's dystonia
     A rare movement disorder where the patients suffer uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body....more »
    601. Opthalmoplegia progressive external scoliosis
     A rare disorder characterized by progressive weakening of external eye muscles and scoliosis....more »
    602. Optic neuropathy, anterior ischemic
     Impaired vision due to optic nerve damage caused by problems with the blood supply to the nerve. The non-arteritic form is caused by and interrupted blood supply to the optic disk. Usually one eye is affected first and maybe eventually be followed by the ...more »
    603. Oral pharyngeal disorders
     Disorders involving the mouth and back of throat area including the pharynx. The disorder may include cancers, structural abnormalities, fungal disease, infections and inflammation. The type and severity of symptoms varies greatly depending on the type of...more »
    604. Oropharyngeal cancer, adult
     Cancer of the back of the mouth which forms part of the throat including the back of the tongue, tonsils, part of the throat wall and soft palate (oropharynx)....more »
    605. Osteomyelitis
     A bone inflammation caused by bacteria. The inflammation usually originates in another part of the body and is transported to the bone via the blood....more »
    606. Ovarian Cancer
     Cancer of the ovaries....more »
    607. Pancreatitis
     Inflammation of the pancreas causing digestive complaints....more »
    608. Parastremmatic dwarfism
     A rare disorder characterized by severe dwarfism, kyphoscoliosis, contractures of the large joints and twisted and bowed limb bones....more »
    609. Parathyroid cancer, adult
     A rare cancer that can occur in the parathyroid gland in adults. The parathyroid glands regulate body calcium levels so cancer of the gland upsets the body's calcium balance causing muscle, bone and other symptoms....more »
    610. Parkinson's Disease
     Degenerative brain condition characterised by tremor....more »
    611. Pena Shokeir syndrome, type 1
     A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems....more »
    612. Pendred syndrome
     An inherited condition characterized by hearing loss and goiter formation. The enlarged thyroid gland often continuges to function normally....more »
    613. Perinatal hypophosphatasia
     An inherited bone disorder due to an inborn error of metabolism characterized by a severe deficiency of alkaline phosphate which results in death before or within days of birth....more »
    614. Periodic fever, aphthous stomatitis, pharyngitis and adenitis
     A very rare syndrome characterized mainly by mouth ulcers, periodic fevers, pharyngeal inflammation and infection of neck lymph nodes....more »
    615. Peripheral T-cell lymphoma
     An aggressive form of non-Hodgkin's lymphoma characterized by the proliferation of abnormal T-lymphocytes that circulate in the blood in the peripheral parts of the body. It is a rapidly growing lymphoma....more »
    616. Pharyngitis
     Inflammation or infection of the larynx in the throat...more »
    617. Pharyngoconjunctival fever
     An infectious disease usually caused by adenovirus type 3. The infection may be acute, epidemic or sporadic and is more common in children. Infection can be transmitted through swimming pools. The incubation period is 5-9 days....more »
    618. Piepkorn karp hickoc syndrome
     A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers....more »
    619. Pilotto syndrome
     A very rare syndrome characterized mainly by congenital heart disease, cleft lip and palate, scoliosis, short stature and mental retardation....more »
    620. Plague
     A rare but serious bacterial infection involving the bacterium Yersinia Pestis which can be carried by rodents and transmitted to humans by flea bites or through direct contact with an infected animal....more »
    621. Pneumococcal meningitis
     Pneumococcal meningitis is an inflammation or infection of the membranes covering the brain and spinal cord caused by Streptococcus pneumoniae (also called pneumococcus)....more »
    622. Polio
     Dangerous virus now rare due to vaccination....more »
    623. Polycystic ovary syndrome
     Polycystic ovary syndrome (PCOS) is an endocrine disorder that affects approximately 5% of all women....more »
    624. Postoperative septicaemia
     When a person contracts a bacterial infection in their blood system that occurs after an operation...more »
    625. Postpartum hyperthyroidism
     Postpartum thyroiditis is a postpartum condition that results in temporary hyperthyroidism (overactive thyroid) or hypothyroidism....more »
    626. Potassium Iodide -- Teratogenic Agent
     There is evidence to indicate that exposure to Potassium Iodide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ex...more »
    627. Povidone-Iodine -- Teratogenic Agent
     There is evidence to indicate that exposure to Povidone-Iodine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exp...more »
    628. Pregnancy toxemia /hypertension
     Preeclampsia is the development of high blood pressure, excess protein in the urine and swelling during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The blood pressure usually r...more »
    629. Primary amebic meningoencephalitis
     A relatively rare but serious infectious disease caused by Naegleria fowleri which is a type of free-living amoeba that can be found in warm fresh water and damp soil. The incubation period is from a few days to a week....more »
    630. Propylthiouracil -- Teratogenic Agent
     There is evidence to indicate that exposure to Propylthiouracil during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ex...more »
    631. Pterigium Colli
     A rare malformation involving webbing of the neck area....more »
    632. Pterygia -- Mental retardation -- Distinctive Craniofacial Features
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    633. Pterygium colli -- mental retardation -- digital anomalies
     A very rare syndrome characterized mainly by mental retardation, webbed neck and finger abnormalities....more »
    634. Ptosis strabismus diastasis
     A rare genetic disorder characterized by drooping eyelids, strabismus and abdominal muscle defects....more »
    635. Pure red cell aplasia, congenital
     A rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additi...more »
    636. Quattrin mcpherson syndrome
     A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance....more »
    637. Quinsy
     Tonsil abscess...more »
    638. Radio renal syndrome
     A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities....more »
    639. Raine syndrome
     A very rare syndrome characterized mainly by increased bone density which ultimately results in death....more »
    640. Recurring meningitis
     This is a form of benign, recurrent, aseptic meningitis....more »
    641. Reiter’s syndrome
     A form of reactive arthritis characterized by arthritis, urethritis, conjunctivitis and skin lesions....more »
    642. Renal dysplasia -- limb defects syndrome
     A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects....more »
    643. Resistance to thyroid stimulating hormone
     A very rare disorder where the body is unable to respond to thyroid stimulating hormone even though it is present in sufficient quantities. The problem lies in defective thyroid stimulating hormone receptors....more »
    644. Respiratory diphtheria
     Lung infection from Diphtheria...more »
    645. Respiratory tract infections
    646. Retropharyngeal abscess
     An abscess (pus-filled cavity) in the back of the throat. Prompt treatment is needed to avoid obstruction of airways and other complications including death....more »
    647. Rhabdomyosarcoma, embryonal
     A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Sym...more »
    648. Rhabdomyosarcoma, embryonal 1
     A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Sym...more »
    649. Rhabdomyosarcoma, embryonal 2
     A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Sym...more »
    650. Rhinovirus
     A class of viruses commonly causing the common cold....more »
    651. Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
     A very rare syndrome characterized by an eye disorder, scoliosis and other skeletal abnormalities....more »
    652. Rhizomelic syndrome
     A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood....more »
    653. Rib Tumor
     The presence of tumour growth in the ribs, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary bony metastases from another site e.g. lung or breast....more »
    654. Rosacea
     Inflammatory rash affecting cheeks, nose, forehead, chin...more »
    655. Rosai-Dorfman disease
     A rare condition characterized by excessive production and accumulation of a particular white blood cell (histiocyte). Accumulation primarily occurs in the lymph nodes, especially in the neck, but may also occur in the skin, central nervous system, digest...more »
    656. Rubella
     A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal de...more »
    657. SAPHO syndrome
     A rare disorder involving skin (acne, pustulosis), bone (hyperostosis, osteitis) and joint problems....more »
    658. SCARF syndrome
     A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities....more »
    659. Sackey-Sakati-Aur syndrome
     A very rare syndrome characterized mainly by a blood disorder and various congenital anomalies such as short stature and a thumb abnormality....more »
    660. Sacral meningocele -- conotruncal heart defects
     A very rare syndrome characterized by mainly by heart defects involving the heart outflow vessels and valves, tailbone meningocele and abnormal kidney development....more »
    661. Sakati syndrome
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    662. Salivary gland cancer
     Salivary gland cancer is a rare form of cancer in which malignant (cancer) cells form in the tissues of the salivary glands in the mouth, neck or throat...more »
    663. Sandifer syndrome
     A rare disorder where torticollis (neck spasms) is associated with a hiatus hernia. All the symptoms seem to be as a result of the hiatus hernia....more »
    664. Scarlet fever
     A complication of infection from strep bacteria such as strep throat....more »
    665. Schinzel Giedion Syndrome
     A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations....more »
    666. Schneckenbecken dysplasia
     A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. The condition generally results in stillbirth or death soon after birth...more »
    667. Schwartz-Jampel Syndrome
     A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation....more »
    668. Scleroatonic muscular dystrophy
     An inherited disorder affecting muscles and resulting in muscle weakness and wasting that starts from birth. The joints closest to the body tend to have limited movement whereas those in the hands and feet tend to be hyperextensible....more »
    669. Sclerocornea, Syndactyly, ambiguous genitalia
     A very rare syndrome characterized mainly by hardening of the corneas, webbed fingers and ambiguous genitalia....more »
    670. Scleroderma, systemic
     A rare autoimmune connective tissue disease where the body attacks parts of the body and causes scarring and thickness of the tissue. In the systemic form, the skin and organs are involved....more »
    671. Selected Encephalitides
     Selected conditions which cause inflammation of the brain...more »
    672. Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
     A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria)....more »
    673. Serpentine fibula -- polycystic kidney syndrome
     A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys....more »
    674. Sertoli-leydig cell tumors
     A rare form of ovarian cancer where excessive male sex hormones are produced by the cancerous cells....more »
    675. Seven point syndrome
     A specific group of deformities that is associated with infantile scoliosis....more »
    676. Severe combined immunodeficiency, atypical
     A rare blood disorder where the body's immune system is not functioning properly due to a deficiency of certain T lymphocytes and other T lymphocytes which are unable to be utilized....more »
    677. Shaken Baby Syndrome
     A condition caused by violent shaking of a baby....more »
    678. Shock, Cardiogenic
     Shock is a life-threatening condition involving insufficient blood flow to the body tissues. Cardiogenic shock is caused by impaired heart function which means that blood is unable to be pumped effectively around the body....more »
    679. Shock, Obstructive
     Shock is a life-threatening condition involving insufficient blood flow to the body tissues. Obstructive shock is caused by obstruction the blood flow. Causes include cardiac tamponade, pulmonary embolism and narrowing of the aortic artery....more »
    680. Short ribs -- craniosynostosis -- polysyndactyly
     A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers....more »
    681. Short stature -- contractures -- hypotonia
     A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures....more »
    682. Short stature -- craniofacial anomalies -- genital hypoplasia
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    683. Short stature webbed neck heart disease
     A rare syndrome characterized mainly by heart disease, short stature and a webbed neck....more »
    684. Shprintzen omphalocele syndrome
     A rare syndrome characterized mainly by abnormal development of the pharynx and larynx which can result in a narrowed airway. Protrusion of intestines through the belly button also occurs. The voice is high pitched and spinal curvature and learning proble...more »
    685. Simian B virus infection
     A type of herpesvirus which occurs in monkeys but can be transmitted to humans through bites or through contact with infected monkey tissue as in a laboratory situation. The virus infects the brain (encephalitis) and the surrounding membrane (meningitis)....more »
    686. Simpson-Golabi-Behmel syndrome, type 2
     A rare genetic disorder characterized by hydrops fetalis and various other severe abnormalities. The condition usually results in death within two months of birth....more »
    687. Sinusitis
     Sinusitis is an inflammation of the paranasal sinuses....more »
    688. Sjogren's Syndrome
     Autoimmune disease damaging the eye tear ducts and other glands....more »
    689. Skeletal dysplasia, San Diego type
     A very rare disorder characterized mainly by short limbs and flattened spinal vertebrae. Infants are stillborn or die soon after birth....more »
    690. Sketetal dysplasia coarse facies mental retardation
     A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration....more »
    691. Small Cell Lung Cancer
     Small cell lung cancer is a cancer of the small cells which make up some of the lung tissue. It tends to be a more aggressive cancer than large cell lung cancer and can metastasize to other parts of the body. This type of cancer nearly always occurs in a ...more »
    692. Small cell lung cancer, adult
     Small cell lung cancer is a cancer of the lung tissue which is made up of small cells. It tends to be a more aggressive cancer than large cell lung cancer and can metastasize to other parts of the body....more »
    693. Sodium Iodide -- Teratogenic Agent
     There is evidence to indicate that exposure to Sodium Iodide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    694. Sohval-Soffer syndrome
     A very rare syndrome characterized mainly by mental retardation, hypogonadism and skeletal abnormalities....more »
    695. Spasmodic Torticollis
     It is a chronic neurological movement disorder causing the neck to involuntarily turn to the left, right, upwards, and/or downwards. The condition is also referred to as "cervical dystonia". Both agonist and antagonist muscle contract simultaneously durin...more »
    696. Spinal Arthritis
     Inflammation of the spine joints. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    697. Spinal cord neoplasm
     A growth (tumor) that arises from the spinal cord. The tumor may be benign or malignant....more »
    698. Spinocerebellar ataxia 17
     A rare genetic disorder (chromosome 6q27 defect) characterized by . Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types....more »
    699. Spondylocostal dysostosis, autosomal recessive 1
     A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. This form is severe and often results in infant death....more »
    700. Spondylocostal dysostosis, autosomal recessive 3
     A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities resulting in a short trunk and neck....more »
    701. Spondylocostal dysplasia dominant
     A rare, dominantly inherited syndrome characterized mainly by rib and spine abnormalities....more »
    702. Spondyloepimetaphyseal Dysplasia, Aggrecan Type
     A very rare syndrome observed in 3 siblings and characterized primarily by various bone abnormalities....more »
    703. Spondyloepimetaphyseal dysplasia congenita, Iraqi
     A very rare syndrome characterized mainly by abnormal bone growth. Only a few cases have been reported....more »
    704. Spondyloepimetaphyseal dysplasia with multiple dislocations
     A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations....more »
    705. Spondyloepimetaphyseal dysplasia, micromelic
     A rare skeletal disorder where the spine and long bones grow and develop abnormally. This particular type is characterized by short stature, short limbs and spinal abnormalities....more »
    706. Spondyloepiphyseal dysplasia -- brachydactyly and distinctive speech
     A rare disorder characterized by an unusual voice, characteristic facial appearance and various skeletal abnormalities such as short hands, feet and digits....more »
    707. Spondyloepiphyseal dysplasia -- nephritic syndrome
    708. Spondyloepiphyseal dysplasia -- nephrotic syndrome
     A very rare syndrome characterized by skeletal and immunity abnormalities. The immune defect leads to progressive kidney dysfunction which can ultimately cause death during the first decade....more »
    709. Spondyloepiphyseal dysplasia tarda
     A rare genetic disorder characterized by short stature and skeletal abnormalities which are usually not apparent before 12 years....more »
    710. Spondyloepiphyseal dysplasia, congenita
     A rare genetic bone growth disorder characterized by prenatal growth deficiency, myopia and short trunk....more »
    711. Spondylohypoplasia arthrogryposis popliteal pterygium
     A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities....more »
    712. Spondylohypoplasia, arthrogryposis and popliteal pterygium
     A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities....more »
    713. Spondylometaphyseal dysplasia, Kozlowski type
     A rare genetic disorder characterized by reduced calcification of the spine and pelvis resulting in short stature....more »
    714. Spondylosis
     Spinal degeneration of the discs or spinal joints...more »
    715. Stomach cancer
     Stomach or gastric cancer can develop in any part of the stomach and may spread throughout the stomach and to other organs...more »
    716. Strep throat
     Streptococcal bacterial throat infection....more »
    717. Streptococcal Infections
     Various "strep" bacterial infections....more »
    718. Sturge-Weber Syndrome
     A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures....more »
    719. Stuve-Wiedemann dysplasia
     A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers....more »
    720. Stuve-Wiedemann syndrome
     A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers....more »
    721. Subarachnoid haemorrhage
     A condition which is characterized by haemorrhage of blood into the subarachnoid space...more »
    722. Subarachnoid hemorrhage
     Brain bleeding in the subarachnoid area...more »
    723. Superior vena cava syndrome
     A condition caused by compression or obstruction to the normal circulation of the superior vena cava which carries deoxygenated blood from the body tissues back to the heart....more »
    724. Supraglottic laryngeal cancer
     Cancer that arises in the tissue above the vocal cords....more »
    725. Swollen glands
    726. Syphilis -- Teratogenic Agent
     There is strong evidence to indicate that the development of Syphilis during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage...more »
    727. Syphilitic aseptic meningitis
     A chronic syphilis infection which affects the nervous system....more »
    728. Syringomyelia, cervical lesion
     A slowly-progressing neurological disorder characterized by a fulid-filled cavity in the spinal cord in the neck region....more »
    729. Systemic Juvenile Rheumatoid Arthritis
     Onset of JRA with fevers and systemic symptoms...more »
    730. Tangier disease
     A rare disorder characterized by a very low level of HDL (high-density lipoprotein or "good cholesterol") in the blood. The condition occurs because the body lacks the gene to make a certain protein (Apolipoprotein A1) which normally transports fats from ...more »
    731. Temporal arteritis
     Inflamed head artery causing headache....more »
    732. Temporo-mandibular ankylosis
     A disorder involving stiffness or fusion of the jaw joint which affects the ability of the jaw to open and close normally. The condition may occur congenitally or may be acquired through such things as trauma....more »
    733. Tension headache
     Tension-type headaches can be episodic or chronic.Episodic tension-type headaches are defined as tension-type headaches occurring fewer than 15 days a month, whereas chronic tension headaches occur 15 days or more a month for at least 6 months. Tension-ty...more »
    734. Tetanus
     A disease caused by chemicals which are produced by a bacterium (clostridium tetani) and are toxic to the nerves. The infection usually occurs when the bacteria enter the body through a deep wound - these bacteria are anaerobic and hence don't need oxygen...more »
    735. Tetrasomy X
     A rare chromosomal disorder which causes mental retardation, small head and various other anomalies....more »
    736. Thakker-Donnai syndrome
     A very rare, severe genetic syndrome characterized by abnormal internal organs and facial anomalies....more »
    737. Thoracic outlet syndrome TOS
     A rare disorder involving compression or damage to the nerves and blood vessels that go from the neck to the arms or armpit. It may occur as a birth defect or through some sort of traumato the shoulder area. It can causes symptoms such as arm pain and wea...more »
    738. Thoracolimb dysplasia, Rivera type
     A very rare syndrome characterized mainly by chest and limb abnormalities....more »
    739. Thymus Cancer
     Cancer that occurs in the thymus...more »
    740. Thymus disorders
     Any disorder that affects the thymus...more »
    741. Thyroglossal tract cyst
     A rare condition where a soft, slow-growing growth develops at the front of the neck. It occurs as an abnormal growth that develops from thyroid tissue that is left over from fetal development....more »
    742. Thyroid agenesis
     A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth....more »
    743. Thyroid cancer
     Cancer of the thyroid gland....more »
    744. Thyroid cancer, Hurthle cell
     A rare form of cancer that originates in the thyroid gland. This cancer is characterized by the abnormal presence of Hurthle cells which may signify benign or malignant thyroid cancer. The cancer usually responds well to treatment if detected in the earli...more »
    745. Thyroid cancer, anaplastic
     A thyroid gland cancer that is quite aggressive and metastasizes to other parts of the body....more »
    746. Thyroid cancer, familial medullary
     A rare inherited form of thyroid cancer. The familial form of thyroid cancer is more aggressive than other forms....more »
    747. Thyroid cancer, follicular
     A usually slow-growing cancer of the thyroid gland which is rarely fatal. The cancer develops from cells in the thyroid that produce iodine-containing hormones. This type of cancer usually responds well to treatment....more »
    748. Thyroid cancer, medullary
     Cancer of the thyroid gland. The cancer develops from the parafollicular cells or in the thyroid gland which produced calcitonin. This type of cancer does not respond to treatment as well as papillary or follicular thyroid cancer. This form of thyroid can...more »
    749. Thyroid cancer, papillary
     A usually slow-growing cancer of the thyroid gland which is rarely fatal. The cancer develops from cells in the thyroid that produce iodine-containing hormones. This type of cancer usually responds well to treatment....more »
    750. Thyroid hormone plasma membrane transport defect
     Thyroid problems caused by a defect in the transport of a thyroid hormone called T4 (thyroxine) within the body. The thyroid produces excessive hormones to try to compensate for that inability of the body to utilize the hormone....more »
    751. Thyroiditis
     Thyroid gland inflammation...more »
    752. Tick-borne encephalitis
     A viral infection (flavivirdae) of the central nervous system which is transmitted by ticks. Ticks usually feed on small rodents who are the main carriers of the virus. Transmission may also occur through the consumption of untreated milk. The incubation ...more »
    753. Timme syndrome
     A syndrome involving insufficiency of the thymus, adrenal and pituitary glands. The disorder has involves three phases, each of which has varying symptoms: phase 1 is before puberty, phase 2 occurs after puberty and phase 3 tends to occur in the third dec...more »
    754. Togaviridae disease
     Infection with any of a number of togaviridae viruses which can caused conditions such as Equine encephalitis, Ross River virus and Rubella virus. Symptoms are determined by the type of virus involved. Togaviridae are arboviruses and are transmitted by ar...more »
    755. Tongue Cancer
     The majority of tongue cancers are squamous cell carcinomas. These arise from the lining that covers the muscles of the tongue...more »
    756. Tonsilitis
     Inflammation of the tonsils in the throat....more »
    757. Torsion dystonia 7
     A rare inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. Usually the onset of symptoms is focused on one part of the body, usually the neck, eyes or hands....more »
    758. Torticollis
     Twisted neck...more »
    759. Tourette Syndrome
     A neurological disorder involving vocal and movement tics where where uncontrollable movements or verbal utterances are made....more »
    760. Toxoplasmosis -- Teratogenic Agent
     There is strong evidence to indicate that the development of Toxoplasmosis during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the ...more »
    761. Traumatic Brain Injury
     Brain injury from trauma or accident....more »
    762. Trichomoniasis
     Sexually transmitted parasitic infection....more »
    763. Trigonocephaly -- ptosis -- coloboma
     A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality....more »
    764. Trisomy 19 mosaicism
     A very rare chromosomal disorder where there is an extra copy of chromosome 19 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cell...more »
    765. Trisomy 21 mosaicism
     A very rare chromosomal disorder where there is an extra copy of chromosome 1 in some of the body's cells. The presence of trisomy 20 in all cells causes Down's syndrome and thus the presence in fewer body cells results in conditions that are similar to D...more »
    766. Trisomy 22 mosaicism
     A very rare chromosomal disorder where there is an extra copy of chromosome 22 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cell...more »
    767. Trisomy 6
     A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whe...more »
    768. Tuberculous meningitis
     Tuberculous meningitis is an infection of the membranes covering the brain and spinal cord caused by Koch's bacillus....more »
    769. Tularemia
     A rare infections disease caused by the bacterium Francisella tularensis (a gram-negative pleomorphic coccobacillus). Transmission occurs through contact with infected animals or there habitats e.g. bites from infected insects or other animals, eating inf...more »
    770. Turner Syndrome
     Rare chromosome syndrome with one X but no second X or Y chromosome....more »
    771. Turner-mongolism polysyndrome
     A rare syndrome characterized by webbed neck, elbow abnormalities and infantilism....more »
    772. Type 2 diabetes
     Most common diabetes in adults, usually progressing slowly, mostly treated without insulin at diagnosis....more »
    773. Type A influenza subtype H1
     The H1 subtype of influenza is a strain of the type A influenza virus that can cause cause serious illness and result in pandemics. Influenza is viral respiratory infection. The virus is very contagious and can cause severe illness especially in patients ...more »
    774. Unusual facies, mental retardation, short stature, hemolytic anemia and delayed puberty
     A rare syndrome characterized mainly by an unusual facial appearance, mental retardation, short stature, hemolytic anemia and delayed puberty....more »
    775. Unusual facies, short webbed neck, mental retardation, short stature
     A rare syndrome characterized by an unusual facial appearance, short webbed neck, mental retardation and short stature...more »
    776. Urban Roger Meyer syndrome
     A syndrome which is characterised by genital anomalies, mental retardation, and obesity...more »
    777. Urioste Martinez-Frias syndrome
     A syndrome characterised by multiple abnormalities...more »
    778. VACTERL with hydrocephalus, X-linked
     A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull ...more »
    779. Van Allen Myhre syndrome
     A syndrome which is characterised by vesicles, celosomia, short neck, microcornea, and dextrocardia....more »
    780. Verloes Gillerot Fryns syndrome
     A syndrome characterised by multiple congenital abnormalities and mental retardation....more »
    781. Vertebral Artery Dissection
     A tear that develops in the vertebral artery and tends to result in a stroke. It is the most common cause of stroke in young people. Vertebral artery dissections can be caused by trauma to the neck, manipulation of the spine (chiropractics), high blood pr...more »
    782. Vertigo, benign paroxysmal, in childhood
     A rare harmless disorder in children which causes short periods of dizziness, nausea and involuntary eye movements....more »
    783. Viral meningitis
     Viral meningitis refers to meningitis caused by a viral infection...more »
    784. Virilizing ovarian tumor
     An ovarian tumor made up of hormone secreting cells which results in excessive male hormone (androgen) production....more »
    785. Virus associated hemophagocytic syndrome
     A fulminant condition characterised by viral infection causing multiple organ infiltrates of haemophagocytic histiocytes....more »
    786. Vitamin K antagonists embryofoetopathy
     Abnormalities and deformities that occur in infants due to exposure to oral anticoagulants during the fetal stage....more »
    787. Vocal nodules
     A harmless growth that develops in the vocal chords usually as a result of vocal abuse or overuse....more »
    788. Warthin's tumour
     A benign parathyroid tumour...more »
    789. Waterhouse-Friederichsen syndrome
     A rare syndrome that occurs as complication of septicemia (often due to meningococcal or pneumococcal infection) and involves blood coagulation in blood vessels, adrenal gland hemorrhages and ultimately kidney failure....more »
    790. Watson syndrome
     A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves....more »
    791. Weaver Syndrome
     A syndrome that is considered a variant of the Marshall-Smith syndrome...more »
    792. Weleber Hecht Bigley syndrome
     A syndrome that is characterised by cataract hyperostosis and dislocating patella...more »
    793. West Nile fever
     Mosquito-borne infectious virus....more »
    794. West nile encephalitis
     A virus that is of the Flavivirus genus that causes the condition West Nile encephalitis...more »
    795. Western equine encephalitis
     An infectious disease caused by an arbovirus (Alphavirus - Togaviraidae) and transmitted by infected mosquitoes. The infection primarily attacks that central nervous system and severity can range from asymptomatic to severe complications and even death in...more »
    796. Western/Eastern/California encephalitis
     A mosquito born virus transmitted to humans and sometimes horses....more »
    797. Whiplash
     Neck injury often from a car accident....more »
    798. Whiplash Injuries
     An injury to the neck when the neck is rapidly forced backward and then forwards or vice versa. It most commonly occurs in vehicle accidents when the vehicle is stopped abruptly or pushed forwards suddenly....more »
    799. Whiplash pain
     Whiplash is when the soft tissues of the neck are injured by a sudden jerking or "whipping" of the head. This type of motion strains the muscles and ligaments of the neck beyond their normal range of motion....more »
    800. Willems De vries syndrome
     A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate...more »
    801. X chromosome, duplication Xq13 1 q21 1
     A condition characterised by the duplication of the long arm of chromosome X....more »
    802. X chromosome, monosomy Xp22 pter
     A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual...more »
    803. X chromosome, monosomy Xq28
     A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual...more »
    804. X chromosome, trisomy 26-28
     A condition characterised by the duplication of the long arm of chromosome X....more »
    805. X chromosome, trisomy Xp3
     A condition characterised by the duplication of the long arm of chromosome X....more »
    806. X chromosome, trisomy Xpter Xq13
     A condition characterised by the duplication of the long arm of chromosome X....more »
    807. X chromosome, trisomy Xq
     A condition characterised by the duplication of the long arm of chromosome X....more »
    808. X chromosome, trisomy Xq25
     A condition characterised by the duplication of the long arm of chromosome X....more »
    809. X-Linked Agammaglobulinemia
     Immune deficiency from lack of antibodies....more »
    810. X-linked lymphoproliferative syndrome
     A rare inherited immunodeficiency disorder where the body's immune systm is unable to respond appropriately to certain viral infections (Epstein Barr virus)....more »
    811. Zunich neuroectodermal syndrome
     A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects....more »

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