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Symptom Checker » Anteverted nostrils » Hand symptoms
 

Anteverted nostrils and Hand symptoms and Long thin fingers and Skin texture changes and Tooth deformity and Visual problems
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Results: Causes of Anteverted nostrils AND Hand symptoms AND Long thin fingers AND Skin texture changes AND Tooth deformity AND Visual problems

Results: 4165 causes of Anteverted nostrils OR Hand symptoms OR Long thin fingers OR Skin texture changes OR Tooth deformity OR Visual problems

    1. 18p minus syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material t...more »
    2. 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 »
    3. 1q proximal deletion
     A rare chromosomal disorder where the proximal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities....more »
    4. 2-Hydroxyglutaricaciduria
     A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than oth...more »
    5. 2-Methylbutyric Aciduria
     A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbu...more »
    6. 2-methylbutyryl-coenzyme A dehydrogenase deficiency
     A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbu...more »
    7. 22q11.2 deletion syndrome
     A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans....more »
    8. 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 »
    9. 3 alpha methylglutaconicaciduria, type 3
     A rare genetic condition where a gene mutation prevents the production of certain protein which leads to a build-up of an acid (3-methylglutaconic acid) which can have a negative impact on the body. The condition is characterized mainly by damage to the o...more »
    10. 3-methylglutaconic aciduria, type 4
     A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3....more »
    11. 3C syndrome
     A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name....more »
    12. 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 »
    13. 46,XX chromosome 7 deletion p13
     A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities....more »
    14. 47,XXX syndrome
     A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomati...more »
    15. 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 »
    16. 49,XXXXY syndrome
     A rare sex chromosome abnormality where there are three extra copies of the X chromosome....more »
    17. 4p16.3 deletion
     A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus....more »
    18. ADULT syndrome
     A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities....more »
    19. AREDYLD
     A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes....more »
    20. ATRUS syndrome
     A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder....more »
    21. Aarskog Syndrome
     A rare genetic condition characterized by facial, hand, genital and growth abnormalities....more »
    22. Abdominal Aneurysm
     Dilatation of a section of the abdominal aorta, usually due to a weakness in the wall of the artery...more »
    23. Abetalipoproteinemia
     A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body....more »
    24. Ablepharon macrostomia syndrome
     A rare disorder involving a number of mainly physical abnormalities....more »
    25. Abruzzo Erickson syndrome
     A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness....more »
    26. Absence of septum pellucidum and septo-optic dysplasia
     A rare birth defect where a thin membrane in the middle of the brain is missing. This brain abnormality is never present on it's own but is a characteristic of septo-optic dysplasia where the patient also has optic disk abnormalities and pituitary deficie...more »
    27. Absence of septum pellucidum with porencephalia syndrome
     A rare syndrome present at birth and characterized by the absence of the thin membrane in the middle of the brain (septum pellucidum) as well as abnormal cavities in the brain (porencephaly). The syndrome also involves other structural brain abnormalities...more »
    28. Absence of tibia with polydactyly
     The congenital absence of the tibial bone which is the shin bone as well as the presence of extra fingers....more »
    29. Absent corpus callosum -- cataract -- immunodeficiency
     A rare syndrome characterized by immunodeficiency, cleft lip or palate, cataract, reduced pigmentation and brain abnormalities....more »
    30. Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation
     A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation....more »
    31. 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 »
    32. Acanthamoeba infection of the eye
     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 »
    33. Acanthamoeba keratitis
     Infection of the eye with a microscopic, free-living ameba (Acanthamoeba) that is readily found in the environment - soil, air and water. Infection most often occurs through exposure to contaminated water while wearing contact lenses e.g. swimming or show...more »
    34. Acanthocytosis
     A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosi...more »
    35. Acanthokeratodermia
     An uncommon skin condition involving excessive growth of the horny part of the skin on the palms of the hands and soles of the feet. Patients also suffer thickening of the nails....more »
    36. Accelerated hypertension
     Accelerated hypertension is a condition characterized by a rapid increase in blood pressure. The condition is a medical emergency which can cause organ damage if not treated promptly....more »
    37. Accessory navicular bone
     An abnormal bone that develops in the arch in the middle of the foot. Often there are no symptoms but if the bone is large it may rub against shoes and cause problems....more »
    38. Accidental Eye Injury
     The accidental injury to an eye...more »
    39. Acetaminophen -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Acetaminophen 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 o...more »
    40. Achalasia -- Addisonianism -- Alacrimia syndrome
     A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide....more »
    41. Achalasia -- addisonianism -- alacrima syndrome
     A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide....more »
    42. Achalasia -- adrenal -- alacrima syndrome
     A familial disorder characterized by adrenal gland-related hormonal problems, swallowing difficulty (achalasia) and a lack of tears (alacrima). Neurological impairment and motor and sensory neuropathy is progressive. The adrenal glands in patients are res...more »
    43. Achard syndrome
     An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints....more »
    44. Achondrogenesis type 1A and 1B
     A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine....more »
    45. Achondrogenesis type 2
     A rare genetic disorder characterized by very small stature, abnormal bone formation and early death....more »
    46. Achrestic anemia
     Achrestic anemia is a form of anemia similar to that caused by Vitamin B12 deficiency but it doesn't respond to treatment with Vitamin B12. The condition tends to progress slowly and can result in death if not treated. There are a variety of possible caus...more »
    47. Achromatopsia 3
     A rare form of colorblindness which also involves myopia....more »
    48. Achromatopsia incomplete, X-linked
     An inherited form of blue color blindness....more »
    49. Acidic dry cell batteries inhalation poisoning
     Acidic dry cell batteries contain toxic chemicals which can cause symptoms if inhaled. The smoke emitted from burning batteries can also cause poisoning symptoms if sufficient quantities are inhaled. The type and severity of symptoms varies depending on t...more »
    50. Ackerman syndrome
     An extremely rare condition characterized primarily by glaucoma, upper lip deformity and abnormal tooth roots....more »
    51. Acquired hypothyroidism
     Acquired hypothyroidism is a condition where the thyroid gland makes too little or no thyroid hormone. Acquired hypothyroidism can be caused by both thyroid disease (primary hypothyroidism) and hypothalamic-pituitary disease (central hypothyroidism)...more »
    52. Acro coxo mesomelic dysplasia
     A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs....more »
    53. Acro-pectoro-renal field defect
     A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth....more »
    54. Acro-reno-ocular syndrome
     A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones....more »
    55. Acrocallosal Syndrome (Schinzel Type)
     A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities....more »
    56. Acrocapitofemoral dysplasia
     A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips....more »
    57. Acrocephalopolydactyly
     A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present....more »
    58. Acrocephalopolydactyly II
     A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation....more »
    59. Acrocephalopolysyndactyly, type 2 (ACPS 2)
     A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders....more »
    60. Acrocephalosyndactyly II
     A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities....more »
    61. Acrocephalosyndactyly Syndrome type 5
     A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity....more »
    62. Acrocephalosyndactyly type 5 (ACPS 5)
     A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity....more »
    63. Acrocyanosis
     An uncommon disorder of blood vessels, causing cold, pale skin....more »
    64. Acrodermatitis, persistent
     A rare chronic skin condition characterized by the eruption of pustules that usually occur on the ends of fingers...more »
    65. Acrodysostosis
     A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities....more »
    66. Acrodysplasia scoliosis
     A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies....more »
    67. Acrofacial dysostosis Catania form
     One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare....more »
    68. 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 »
    69. Acrofacial dysostosis atypical postaxial
     A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features....more »
    70. Acrofacial dysostosis postaxial, atypical
     A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes....more »
    71. Acrofacial dysostosis, Nager type
     A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects....more »
    72. 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 »
    73. Acrofacial dysostosis, Weyers type
     A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs....more »
    74. Acrofrontofacionasal dysostosis syndrome
     A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present....more »
    75. Acrogeria (Gottron Type)
     An extremely rare, mild form of progeria....more »
    76. Acromegaloid changes, cutis verticis gyrata and corneal leukoma
     A rare disorder characterized by acromegaly (enlarged extremeties) , furrowed skin on scalp and face and corneal leukomas....more »
    77. Acromegaloid facial appearance syndrome
     A very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency....more »
    78. Acromegaloid facies -- hypertrichosis
     A very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency....more »
    79. Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome
     A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma....more »
    80. Acromesomelic dysplasia
     A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis....more »
    81. Acromesomelic dysplasia Hunter Thompson type
     A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones....more »
    82. Acroosteolysis dominant type
     A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes....more »
    83. Acroosteolysis neurogenic
     A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also b...more »
    84. Acroparesthesia syndrome
     A condition involving episodes of paresthesia (tingling, numbness and stiffness) mainly in the lower arms and hands. It most often occurs in middle-aged women....more »
    85. Acropectoral syndrome
     A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall....more »
    86. Acropectorovertebral dysplasia
     A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones....more »
    87. Acrorenal syndrome recessive
     A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities....more »
    88. Acrosphenosyndactylia
     A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused t...more »
    89. Actinic keratosis
     Scaling of the skin condition usually from sunlight...more »
    90. Acutane embryopathy
     A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects....more »
    91. Acute Angle Closure Glaucoma
     Primary angle closure is defined as an occludable drainage angle and features indicating that trabecular obstruction by the peripheral iris has occurred (ie, peripheral anterior synechiae, increased IOP, lens opacities, excessive trabecular pigmentation d...more »
    92. 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 »
    93. 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 »
    94. Acute Pesticide poisoning -- xylene
     Xylene is an ingredient used in certain insecticides. Exposure to the chemical can cause a range of symptoms depending on the level and route of exposure. Exposure can occur through inhalation, ingestion, the skin or eyes. Acute exposure involves a exposu...more »
    95. 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 »
    96. 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 »
    97. 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 »
    98. 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 »
    99. 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 »
    100. Acute fulminant multiple sclerosis
     Malignant Multiple Sclerosis, is a particularly aggressive form of the disease. Thankfully very rare, this highly aggressive form is defined by its swift and relentless decline to significant disability or even death, often within a few weeks or months af...more »
    101. 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 »
    102. Acute posterior multifocal placoid pigment
     A rare eye disease where the central vision in one or both eyes is affected by inflammation or fluid build up in the retina. The retina lies at the back of the eye. Symptoms such as fever, headache and malaise often precede the eye symptoms. The cause of ...more »
    103. Acute retinal necrosis syndrome
     An acute infection of the eye usually caused by the chicken pox virus (varicella-zoster), herpes simplex or cytomegalovirus. One or both eyes may be involved....more »
    104. Acute tubulointerstitial nephritis and uveitis syndrome
     The association of a sudden kidney disorder with eye inflammation. Autoimmune processes are believed to be involved....more »
    105. Acute vitamin A toxicity
     Acute ingestion of vitamin A can cause symptoms. Symptoms usually only last for a day or two....more »
    106. Adactylia unilateral dominant
     A rare genetic condition characterized by missing portions of fingers usually with some sort of malformed remnant of a nail on the end of what is remaining of the finger....more »
    107. Adams Nance syndrome
     A rare genetic disorder characterized by rapid heartbeat, high blood pressure, small eyes and the presence of excess glycine in the urine....more »
    108. Adams-Oliver Syndrome
     A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe....more »
    109. Adducted thumb syndrome recessive form
     A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities....more »
    110. Adducted thumbs -- arthrogryposis, Christian type
     A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities....more »
    111. Adducted thumbs Dundar type
     A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies....more »
    112. Adenoid cystic carcinoma
     Salivary gland type malignant neoplasm arising from bronchial seromucinous glands. Composed of epithelial and myoepithelial cells in cribriform, tubular and solid growth patterns....more »
    113. Adenoid cystic carcionoma
     Adenoid cystic carcinoma of the breast is a rare neoplasm. It has a biological course of slow progression and near absence of Iymph node metastasis....more »
    114. Adnexal and Skin Appendage Neoplasms
     A type of tumour that develops on particular organs - eyes, skin and uterus. The tumors are usually benign but some may become malignant. The symptoms will vary depending on the location of the tumor and whether it is benign or malignant. These type of tu...more »
    115. Adolescent cataract and infertility syndrome
     A rare syndrome characterized mainly by cataracts and infertility in male adolescents....more »
    116. 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 »
    117. Adrenal Cortex Diseases
     Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue....more »
    118. 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 »
    119. 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 »
    120. 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 »
    121. Adrenal hypertension
     Adrenal hypertension is high blood pressure caused by adrenal gland problems. For example, an adrenal tumor can cause excessive production of aldosterone which in turn causes salt-retention and high blood pressure. Severity of symptoms varies depending on...more »
    122. 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 »
    123. Adrenal medulla neoplasm
     A tumor that develops in the part of the adrenal gland called the medulla which produces adrenalin and noradrenaline. The tumor is usually benign but can be malignant....more »
    124. Adrenocortical carcinoma
     A condition which is characterized by malignancy which affects the adrenocortex....more »
    125. Adrenoleukodystrophy
     A rare disorder which has characteristic symptoms of Addison disease (adrenocortical insufficiency) and Schilder disease (cerebral sclerosis). Bronze skin, brain sclerosis and demyelination are the main symptoms....more »
    126. Adrenoleukodystrophy, autosomal, neonatal form
     A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty a...more »
    127. African milk bush poisoning
     The African milk bush originated from African and is a shrubby plant with small flowers. The milky sap contains diterpene esters which can cause symptoms if it is eaten or if the sap comes into contact with the skin or eyes. It can cause severe skin irrit...more »
    128. Age-related macular degeneration
     Deterioration of the central field of vision....more »
    129. Aging
     The medical conditions from getting older....more »
    130. Aglossia-Adactylia syndrome
     A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present....more »
    131. Aglossia-Hypoactylia syndrome
     A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present....more »
    132. Agnathia-holoprosencephaly-situs inversus
     A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable....more »
    133. Aicardi syndrome
     A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities ....more »
    134. Air embolism
     A condition which is characterized by air bubbles entering the circulation usually due to trauma, decompression sickness or surgery....more »
    135. Akaba-Hayasaka syndrome
     A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs....more »
    136. Al Awadi syndrome
     A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis....more »
    137. Al Awadi-Raas-Rothschild syndrome
     A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related....more »
    138. Al Gazali Sabrinathan Nair syndrome
     A very rare syndrome characterized by bone and eye problems, seizures and mental retardation....more »
    139. Al Gazali-Khidr-Prem Chandran
     A very rare syndrome characterized mainly by short stature, eye problems and an unusual cherubic facial appearance....more »
    140. Al Gazali-Khidr-Prem Chandran syndrome
    141. Al Murrah-induced lead poisoning
     Al Murrah is a folk remedy used mainly by Saudi Arabian people to treat problems such as stomach pain, diarrhea and colic. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible...more »
    142. Alarcon-induced lead poisoning
     Alarcon is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susc...more »
    143. Albayaidle-induced lead poisoning
     Albayaidle is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due ...more »
    144. Albayalde-induced lead poisoning
     Albayalde is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due t...more »
    145. Albers-Schonberg disease -- Adult benign dominant form
     A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic....more »
    146. Albinism ocular late onset sensorineural deafness
     A rare inherited condition characterized by a lack of eye pigmentation and deafness that usually starts in middle-age. Severity of symptoms is variable....more »
    147. Albinism, minimal pigment type
     A rare inherited disorder characterized by a total lack of pigmentation at birth. However, during the first decade of life, some pigmentation does develop in the eyes. The disorder is believed to be a part of a disorder called oculocutaneous albinism type...more »
    148. Albinism, ocular, autosomal recessive
     A rare inherited condition characterized by reduced eye pigmentation with normal, or near normal hair and skin pigmentation....more »
    149. 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 »
    150. Albuterol -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Albuterol 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 »
    151. Alcohol Withdrawal
     Symptoms that occur when alcohol consumption is discontinued or reduced. Symptoms may vary depending on the level of dependence....more »
    152. Alcohol antenatal infection
    153. Alcohol-induced hypertension
     Alcohol-induced hypertension is high blood pressure caused by excessive drinking of alcohol....more »
    154. Alezzandrini syndrome
     A rare condition involving degenerative eye disease in one eye, followed by other facial symptoms on the same side and hearing impairment. The condition progresses over months or years....more »
    155. Allain Babin Demarquez syndrome
     A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension....more »
    156. Alopecia -- hypogonadism -- extrapyramidal disorder
     A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty....more »
    157. Alopecia congenita keratosis palmoplantaris
     An extremely rare condition characterized by thickening of skin on the palms and soles and lack of hair....more »
    158. Alopecia mental retardation syndrome
     A rare syndrome characterized primarily by a lack of hair and mental retardation....more »
    159. Alpers Syndrome
     A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation....more »
    160. Alpha 1-Antitrypsin Deficiency
     A rare disorder characterized by the development of lung disease in adults and liver disease in adults and children....more »
    161. Alpha-Mannosidosis
     A rare condition which is characterized by a lysosomal storage defect....more »
    162. Alport syndrome with leukocyte inclusions and macrothrombocytopenia
     A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes. End-stage kidney disease occurs in about a third of patients and tends to occur during the 3rd and 4th decades of life....more »
    163. Alstrom disease
     A rage genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus....more »
    164. Alstrom syndrome
     A rare genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus....more »
    165. Alström Syndrome
     A progressive condition which is characterized by deafness, obesity and visual problems in childhood that may lead to diabetes and kidney failure in adulthood...more »
    166. Alveolar Hydatid Disease
     Rare multi-organ tapeworm infection caught from animals....more »
    167. Alveolitis, extrinsic allergic
     A lung disease that tends to occur in people with jobs where they are frequently exposed to organic dust inhalation....more »
    168. Alves Castelo dos Santos syndrome
     A rare syndrome characterized by hair, eye, skin and spinal abnormalities....more »
    169. Amanita polypyramis poisoning
     Amanita polypyramis is a type of large-capped mushroom often found growing in the wild in the US. The mushroom tends to give off a chlorine-like odor. It is poisonous and death can result if sufficient quantities are eaten....more »
    170. Amastia, bilateral, with ureteral triplication and dysmorphism
     A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects....more »
    171. Amaurosis Congenita of Leber, type 12
     A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 12 is distinguished from the other forms of this condition by the genetic origi...more »
    172. Amaurosis Congenita of Leber, type 13
     A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is obvious usually by the age of 4 years. Type 13 is distinguished from the other forms of this condition by the genetic origin of the defec...more »
    173. Amaurosis congenita of Leber
     A rare genetic eye disorder characterized by blindness at birth or within years as well as other eye abnormalities....more »
    174. Amaurosis congenita of Leber, type 1
     A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type I is distinguished from the other forms of this condition by the genetic origin of the defect - ...more »
    175. Amaurosis congenita of Leber, type 10
     A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 10 is distinguished from the other forms of this condition by the genetic origin of the defect -...more »
    176. Amaurosis congenita of Leber, type 11
     A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 11 is distinguished from the other forms of this condition by the genetic origin of the defect -...more »
    177. Amaurosis congenita of Leber, type 2
     A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 2 is distinguished from the other forms of this condition by the genetic origin of the defect - ...more »
    178. Amaurosis congenita of Leber, type 3
     A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 3 is distinguished from the other forms of this condition by the genetic origin of the defect - ...more »
    179. Amaurosis congenita of Leber, type 4
     A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 4 is distinguished from the other forms of this condition by the genetic origin of the defect - ...more »
    180. Amaurosis congenita of Leber, type 5
     A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type 5 is distinguished from the other forms of this condition by the genetic origin of the defect - ...more »
    181. Amaurosis congenita of Leber, type 6
     A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 6 is distinguished from the other forms of this condition by the genetic origin...more »
    182. Amaurosis congenita of Leber, type 7
     A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 7 is distinguished from the other forms of this condition by the genetic origin...more »
    183. Amaurosis congenita of Leber, type 8
     A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 8 is distinguished from the other forms of this condition by the genetic origin...more »
    184. Amaurosis congenita of Leber, type 9
     A rare inherited retinal disease (retinal dystrophy) that usually starts during the fetal stage. Vision impairment is usually apparent at birth or within months of birth. Type 9 is distinguished from the other forms of this condition by the genetic origin...more »
    185. Amelo-cerebro-hypohidrotic syndrome
     A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development....more »
    186. Amelo-onycho-hypohidrotic syndrome
     A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability....more »
    187. Aminopterin -- Teratogenic Agent
     There is strong evidence to indicate that exposure to ? 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 a...more »
    188. Amitriptyline -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amitriptyline 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 o...more »
    189. Amlodipine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amlodipine 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 e...more »
    190. Amniotic Bands
     A rare condition where abnormal fetal development occurs when bands of tissue encircle parts of the fetus and affect the growth of that portion. The band of tissue develops from the internal womb lining. The location of the band on the fetus determines th...more »
    191. 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 »
    192. Amphetamine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amphetamine 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 »
    193. Amphetamine abuse
     Use of the stimulant drugs known as amphetamines or "speed"...more »
    194. Amphetamine-induced hypertension
     Amphetamine-induced hypertension is high blood pressure caused by use of amphetamines. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms va...more »
    195. Ampicillin -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Ampicillin 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 e...more »
    196. Ampola syndrome
     A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities....more »
    197. Amyloidosis IX
     A rare disorder where a substance called amyloid is deposited in the skin resulting in itchy, discolored bumps or nodules in the skin. No other body organs are involved....more »
    198. Amyloidosis of gingiva and conjunctiva mental retardation
     A rare disorder characterized by mental retardation and abnormal amyloid deposits in the gums and conjunctiva of the eye....more »
    199. Amyloidosis, oculoleptomeningeal
     Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunct...more »
    200. Amyoplasia congenital disruptive sequence
     A rare genetic disorder characterized by congenital contractures of two or more different joints....more »
    201. Amyotrophic lateral sclerosis
     A motor neuron disease involving progressive degeneration and eventual destruction of the function of nerves that control voluntary movement....more »
    202. Amyotrophic lateral sclerosis type 1
    203. Amyotrophic lateral sclerosis, familial
    204. Amyotrophic lateral sclerosis, familial type 1
     A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 1 is characterized by adult onset and relatively fast progression of symptoms. It usua...more »
    205. Amyotrophic lateral sclerosis, familial type 2
     A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 2 is characterized by childhood or adolescent onset of symptoms which progress very sl...more »
    206. Amyotrophic lateral sclerosis, familial type 3
     A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 3 is characterized late adulthood onset of symptoms which progress slowly over 5 years...more »
    207. Amyotrophic lateral sclerosis, familial type 4
     A generally fatal progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 4 is characterized by the onset of symptoms before the age of 25 and slow progression over the ne...more »
    208. Amyotrophic lateral sclerosis, familial type 5
     A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adolescent onset of symptoms with progression varying between 1 and...more »
    209. Amyotrophic lateral sclerosis, familial type 6
     A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adult onset of symptoms with progression varying between 1 and 20 y...more »
    210. Amyotrophic lateral sclerosis, familial type 7
     A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 7 is characterized adult onset of symptoms with progression varying between less than ...more »
    211. Amyotrophic lateral sclerosis, familial type 8
     A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 8 is characterized by adult onset and relatively slow progression of symptoms. It occu...more »
    212. Amyotrophic lateral sclerosis, type 6
     An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12....more »
    213. Anaphylaxis
     A rare, potentially life-threatening allergic reaction....more »
    214. Andogsky's syndrome
     A condition characterized by chronic eczema-like skin lesions which develop during childhood and cataracts which develop in early adulthood. The main areas affected by the skin lesions are the neck, elbows and knees....more »
    215. Anemia
     Reduced ability of blood to carry oxygen from various possible causes....more »
    216. Anemia, Iron-Deficiency
     A lack of fully functioning red blood cells due to a deficiency of iron. The iron allows the body to make hemoglobin in red blood cells which in turn allows the red blood cell to carry oxygen....more »
    217. Anemia, hypochromic microcytic
     A blood disorder where red blood cells are too small and lack sufficient iron. It can be inherited or caused by insufficient iron in the diet or from a genetic disorder....more »
    218. Anencephaly
     A birth defect where most or all of the brain is missing - most die before birth. Usually the associated portions of skull and other tissue are also missing....more »
    219. 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 »
    220. 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 »
    221. 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 »
    222. 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 »
    223. 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 »
    224. 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 »
    225. 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 »
    226. 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 »
    227. 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 »
    228. Angel shaped phalangoepiphyseal dysplasia
     A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis....more »
    229. Angelman syndrome
     A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features....more »
    230. Angelman-Like Syndrome, X-linked
     A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk...more »
    231. Angioid streaks
     Streaks that radiate out from the optic nerve head under the retina. The streaks may be red, brown or grey. The streaks resemble blood vessels and hence the term angioid. The streaks represent tiny breaks in the elastic membrane of the retina (Bruch's mem...more »
    232. Angiokeratoma -- mental retardation -- coarse face
     A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas....more »
    233. 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 »
    234. Aniridia
     A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV....more »
    235. Aniridia -- absent patella
     A rare genetic condition characterized by an abnormal or missing kneecap as well as the absence of the iris of the eye....more »
    236. Aniridia -- mental retardation syndrome
     A very rare syndrome characterized by mental retardation and absent irises....more »
    237. Aniridia -- ptosis -- mental retardation -- obesity, familial
     A rare familial disorder characterized by eye abnormalities, mental retardation and obesity....more »
    238. Aniridia -- renal agenesis -- psychomotor retardation
     A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation....more »
    239. Aniridia I
     A genetic disorder where part or all of the iris (except for the stump) of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV....more »
    240. Aniridia II
     A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV. AN-II is often associated with other eye problems such as glaucom...more »
    241. Aniridia III
     A genetic disorder where part or all of the iris of one or both eyes is missing. The iris is the colored part of the eye. There are four forms of the disease: AN-1, AN-II, AN-III and AN-IV. AN-III is associated with mental retardation....more »
    242. Aniridia ptosis mental retardation obesity familial type
     A rare familial disorder characterized by eye abnormalities, mental retardation and obesity....more »
    243. Aniridia, sporadic
     A rare eye malformation where part or all of the iris of the eye is missing at birth....more »
    244. Aniridia, type 2
    245. Anisometropia
     This is where there is an inequality in refractive power of the two eyes...more »
    246. Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome
     A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs....more »
    247. Ankylosis of teeth
     A rare genetic disorder where the teeth fuse to the bone which can prevent them from erupting. Varying numbers of teeth may be affected....more »
    248. Anonychia -- ectrodactyly
     A very rare syndrome characterized by the absence of nails and the absence of all or part of one or more fingers or toes (ectrodactyly)....more »
    249. Anonychia -- microcephaly
     A very rare syndrome characterized by the absence of nails and a small head....more »
    250. Anonychia -- onychodystrophy
     A rare birth malformation characterized by absent nails and dystrophic nails....more »
    251. Anonychia onychodystrophy brachydactyly type b
     A rare, dominantly inherited disorder characterized abnormal or absent nails, permanently flexed fingers and a broad, finger-like thumb....more »
    252. Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
     A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb....more »
    253. Anophthalmia -- hand and foot defects -- mental retardation
     A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes....more »
    254. Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies
     A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities....more »
    255. Anophthalmia -- short stature -- obesity
     A very rare syndrome characterized by absent eyes, short stature and obesity....more »
    256. Anorexia Nervosa
     A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases....more »
    257. Antepartum Eclampsia
     Antepartum eclampsia is the development of seizures or coma in pregnant women suffering from high blood pressure. Antepartum means that it occurs before delivery. Eclampsia is a serious condition which requires urgent medical treatment. Eclampsia may be a...more »
    258. Anterior Interosseous Nerve Compression
     Compression or entrapment of the radial nerve which is in the forearm. The problem can result from such things as bone tumors, trauma, lipomas or the repetition of certain arm motion. This nerve is involved in controlling various muscles in the hand and t...more »
    259. Anterior polar cataract 2
     A rare, dominantly inherited type of cataract which is characterized by small opacities on the front surface of the eye lens. Vision is usually not affected and the cataract is not associated with any other abnormalities. Type 1 is caused by a genetic def...more »
    260. Anterior segment mesenchymal dysgenesis
     An eye disorder caused by a genetic anomaly. The degree of vision impairment various with the severity of the condition....more »
    261. Antisynthetase syndrome
     A rare autoimmune disease that affects the muscles. It involves the development of antibodies to an enzyme (aminoacyl-tRNA synthetase) which is involved in making proteins....more »
    262. Antithrombin Deficiency
     Antithrombin deficiency refers the deficiency or impaired activity of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if its activity is impaired then the blood becomes more...more »
    263. Antithrombin Deficiency, type I
     Type I Antithrombin deficiency refers the deficiency of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if there are insufficient quantities of it then the blood becomes mor...more »
    264. Antithrombin Deficiency, type II
     Type II Antithrombin deficiency refers the malfunction of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if it is unable to function properly then the blood becomes more pr...more »
    265. Antley-Bixler Syndrome
     A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities....more »
    266. Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis
     A rare genetic disorder involving a deficiency of an enzyme (cytochrome P450 oxidoreductase) which causes steroid abnormalities. The condition results in ambiguous genitalia in females due to excessive androgen during fetal growth. Patients can also have ...more »
    267. Anxiety-tension syndrome
     Anxiety associated with physical symptoms such as tense muscles and fatigue....more »
    268. Aortic stenosis
     A condition which affects the aortic valve of the heart resulting in stenosis of the valve....more »
    269. Apert syndrome
     A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused t...more »
    270. Aphakia
     Absent eye lens. The disorder may be present at birth or result from such things as lens dislocation, cataract surgery, ulcer or trauma....more »
    271. Aphalangia -- syndactyly -- microcephaly
     A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers....more »
    272. Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis
     A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs....more »
    273. Aphasia
     Language difficulty usually from brain damage or stroke....more »
    274. Aplasia cutis congenita -- epibulbar dermoids
     A very rare syndrome characterized by increased skin pigmentation, a localized absence of skin (aplasia cutis congenital) and epibulbar dermoids (a benign eye tumor)....more »
    275. Aplasia cutis congenital -- intestinal lymphangiectasia
     A rare disorder characterized by a skin defect and dilated intestinal lymph vessels....more »
    276. Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
     A rare syndrome characterized by the underdevelopment or absence of the pelvis, thigh bone, shin bone and ulna (forearm bone) as well as digital and nail abnormalities....more »
    277. Arachnodactyly -- Intellectual Deficit -- Dysmorphism
     A rare condition characterized by long thin digits, reduced intelligence characteristic facial appearance....more »
    278. Arachnodactyly -- ataxia -- cataract -- aminoaciduria -- mental retardation
     A rare syndrome characterized mainly by congenital cataracts, ataxia, mental retardation, abnormal amino acid metabolism and long, thin fingers....more »
    279. Arachnodactyly -- mental retardation -- dysmorphism
     A very rare syndrome characterized by mental retardation, unusual facial features and long, thin fingers and toes....more »
    280. Arachnoid Cysts
     A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the...more »
    281. Arachnoiditis
     A progressive disorder where the arachnoid membrane becomes inflamed and the brain and spinal cord may also become inflamed....more »
    282. Arctic bearded seal poisoning
     The Arctic Bearded seal is often used as a food source by the arctic inhabitants. Eating the liver and kidneys of the arctic bearded seal can result in a Vitamin A overdose which can cause serious symptoms and even death in extreme cases. It is believed t...more »
    283. Arima syndrome
     A rare disorder characterized mainly by eye and brain abnormalities....more »
    284. Arizona Bark Scorpion poisoning
     A bite from the Arizona Bark scorpion contains chemicals toxic to the nerve system and can cause serious, life-threatening symptoms....more »
    285. Armendares syndrome
     A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities....more »
    286. 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 »
    287. Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly
     A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first year...more »
    288. Arterial tortuosity syndrome
     A rare disorder which affects the connective tissue that makes up blood vessels resulting in various arterial abnormalities. Connective tissue abnormalities also affect the skin and joints....more »
    289. Arteriovenous Malformation
     Birth defect of a tangle of veins and arteries....more »
    290. Arthritis -- short stature -- deafness
     A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities....more »
    291. Arthritis-related enthesitis
     Inflammation of the entheses due to arthritis. The enthuses is the site at which the tendon or ligament attaches to the bone....more »
    292. Arthrogryposis -- hyperkeratosis, lethal form
    293. Arthrogryposis -- ophthalmoplegia -- retinopathy
     A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems....more »
    294. Arthrogryposis Distal
     A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable....more »
    295. Arthrogryposis IUGR thoracic dystrophy
     A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities....more »
    296. 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 »
    297. Arthrogryposis multiplex congenita neurogenic type
     A rare non-progressive syndrome characterized by congenital contractures that originates from a nerve problem (spinal motor neuron depletion)....more »
    298. Arthrogryposis multiplex congenita type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    299. Arthrogryposis multiplex congenita, distal type 1
     A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable....more »
    300. 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 »
    301. 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 »
    302. Arthrogryposis, distal, type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    303. Arthrogryposis, distal, type 2E
     A rare syndrome characterized by contractures of the fingers and jaw....more »
    304. Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
     A very rare syndrome characterized mainly by mental retardation, permanent flexion of fingers, low pituitary hormone level and facial anomalies....more »
    305. Arthrogryposis-like hand anomaly -- sensorineural deafness
     A rare disorder characterized by hand contractures and deafness....more »
    306. Asbestos conditions
     Medical conditions caused be exposure to asbestos dust...more »
    307. Asiatic porpoise poisoning
     The Asiatic porpoise is eaten mainly in China. Eating the liver, internal organs and muscle tissue of the Asiatic porpoise can cause poisoning symptoms in humans if sufficient quantities are consumed. The nature of the toxin is unknown but it is believed ...more »
    308. Asphyxiating Thoracic Dystrophy 2
     Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 2 is linked to a defect o...more »
    309. Asphyxiating Thoracic Dystrophy 3
     Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 3 is linked to a defect o...more »
    310. Asteatotic dermatitis
     An itchy eczema-like skin condition involving areas of superficial cracking and mild peeling of the skin. Older people who bathe excessive in hot soapy water and live in houses with a high temperature and low humidity are the most prone to this condition....more »
    311. Astigmatism
     Vision impairment from irregularly shaped eye cornea or lens....more »
    312. Ataxia -- apraxia -- mental retardation, X-linked
     A rare X-linked syndrome characterized mainly by ataxia, apraxia and mental retardation. The symptoms are generally nonprogressive....more »
    313. Ataxia -- oculomotor apraxia, type 1
     A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems....more »
    314. Ataxia, Hereditary, Autosomal Dominant
     A group of rare, dominantly inherited neuromuscular disorder involving degeneration of the brain and spinal cord. The range, progression and severity of symptoms can vary quite considerably depending on the genetic defect involved....more »
    315. Ataxia, episodic -- vertigo -- tinnitus -- myokymia
     A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress, exhaustion, sudden movements and exertion may trigger the episodes. It is caused by a defect on chromosome 1q42....more »
    316. Ataxia-oculomotor apraxia syndrome
     A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems....more »
    317. Atelosteogenesis Type III
     A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III....more »
    318. Athabaskan severe combined immunodeficiency
     A severe immunodeficiency disorder found in Navajo and Apache populations....more »
    319. Athlete's foot
     Fungal skin condition typically of feet or toes....more »
    320. Athyrotic hypothyroidism sequence
     A rare congenital disorder characterized by a thyroid gland defect....more »
    321. Atkin-Flatiz syndrome
     A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies....more »
    322. Atrial myxoma, familial
     An atrial myxoma benign tumor that develops in the wall that separates the two upper chambers of the heart. The familial form of the condition also involves tumors in other parts of the body such as the skin, both heart atria or the heart ventricles....more »
    323. Atropine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Atropine 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 »
    324. Aural atresia -- multiple congenital anomalies -- mental retardation
     A rare syndrome characterized by a number of malformations as well as mental retardation....more »
    325. Aureomycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Aureomycin (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 l...more »
    326. Australian Sea Lion poisoning
     The Australian Sea Lion is sometimes used as a food source and is found in the South-Southwest waters of Australia. Eating the liver of the Australian Sea Lion can result in a Vitamin A overdose which can cause serious symptoms and even death in extreme c...more »
    327. Autoimmune Diseases of the Nervous System
     A group of diseases where the body's immune system attacks it's own nervous system. Examples includes opsoclonus myoclonus syndrome, Guillain-Barre syndrome and multiple sclerosis. Symptoms vary depending on which nerves are involved....more »
    328. Autoimmune Hypophysitis
     Inflammation of part of the pituitary gland due to an autoimmune process resulting in impaired pituitary hormone production. The range and severity of symptoms is variable depending on the degree of damage to the pituitary gland....more »
    329. Autoimmune Lymphoproliferative Syndrome
     An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells....more »
    330. Autoimmune eye diseases
     Eye disease that is caused by an autoimmune disease...more »
    331. Autoimmune thyroid diseases
     Autoimmune diseases of the thyroid gland....more »
    332. Autoimmune uveitis
     Autoimmune inflammation of the eye's uvea....more »
    333. Autonomic Dysreflexia
     A complication of spinal cord injury where a particular stimulus can trigger an excessive response from the autonomic nervous system which causes blood pressure to rise - sometimes to dangerous levels. Stimuli that can trigger the response include bladder...more »
    334. Autosomal recessive nonsyndromic congenital nuclear cataract
     A rare recessively inherited type of congenital cataract that is not associated with any other abnormality....more »
    335. Avitaminosis
     A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (a...more »
    336. Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities
     A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies....more »
    337. Axenfeld-Rieger syndrome
     A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable....more »
    338. Axial mesodermal dysplasia spectrum
     A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop....more »
    339. Ayazi syndrome
     A very rare syndrome characterized by choroideremia (a degenerative disease of the retina), deafness and obesity....more »
    340. Azarcon-induced lead poisoning
     Azarcon is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Ch...more »
    341. Azathioprine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Azathioprine 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 »
    342. BBB syndrome, X-linked
     A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autoso...more »
    343. BOR-Duane hydrocephalus contiguous gene syndrome
     A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities)....more »
    344. Ba Bow Sen-induced lead poisoning
     Ba Bow Sen is a folk remedy used mainly by Chinese people to treat childhood hyperactivity and to alleviate nightmares. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to...more »
    345. 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 »
    346. Bagatelle-Cassidy syndrome
     An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay....more »
    347. Balance disorders
     Various disorders impairing the body's sense of balance....more »
    348. Bali goli-induced lead poisoning
     Bali goli (flat black bean) is a folk remedy used mainly by Indian and Asian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the e...more »
    349. 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 »
    350. Baneberry poisoning
     Baneberries are toxic and can cause a skin reaction on contact or various poisoning symptoms....more »
    351. Banki syndrome
     A rare disorder characterized by abnormal curvature of fingers, thin middle sections of long bones, fusion of certain wrist bones (lunate and cuneiform bones) and other hand abnormalities....more »
    352. Baraitser burn fixen syndrome
     A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face....more »
    353. Barakat syndrome
     A rare condition characterized by deafness, kidney disease and insufficiency parathyroid hormone production....more »
    354. Bardet-Biedl Syndrome
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities....more »
    355. Bardet-Biedl syndrome, type 1
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13....more »
    356. Bardet-Biedl syndrome, type 10
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q....more »
    357. Bardet-Biedl syndrome, type 11
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1....more »
    358. Bardet-Biedl syndrome, type 12
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27....more »
    359. Bardet-Biedl syndrome, type 2
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21....more »
    360. Bardet-Biedl syndrome, type 3
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13....more »
    361. Bardet-Biedl syndrome, type 4
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3....more »
    362. Bardet-Biedl syndrome, type 5
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31....more »
    363. Bardet-Biedl syndrome, type 6
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12....more »
    364. Bardet-Biedl syndrome, type 7
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27....more »
    365. Bardet-Biedl syndrome, type 8
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11....more »
    366. Bardet-Biedl syndrome, type 9
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14....more »
    367. Barnicoat-Baraitser syndrome
     A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size....more »
    368. Bartsocas Papa syndrome
     A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities....more »
    369. Basan syndrome
     A rare condition characterized by skin, hair and nail abnormalities....more »
    370. Basaran-Yilmaz syndrome
     A very rare syndrome characterized by reduced body hair, thickened skin on various parts of the body and the presence of white nails at birth....more »
    371. Basilar artery insufficiency
     It refers to a temporary set of symptoms due to decreased blood flow in the posterior circulation of the brain....more »
    372. Basilar artery insufficiency syndrome
     A range of symptoms caused by impaired blood flow through the basilar artery. The symptoms may come and go according to variation in blood flow through the basilar artery. The blood flow may be impaired by such things as thrombosis, narrowed artery and bl...more »
    373. Basilar artery migraine
     Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered conscious...more »
    374. Battaglia Neri syndrome
     A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome....more »
    375. Baughman syndrome
     A rare syndrome characterized mainly by fused eyelids, curly hair and abnormal nails....more »
    376. Bd syndrome
     A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder....more »
    377. Beals syndrome
     A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear....more »
    378. Behcet's Disease
     Recurring inflammation of small blood vessels affecting various areas....more »
    379. Behr syndrome
     A rare inherited neurological condition characterized by spastic paraplegia and sometimes optic atrophy....more »
    380. 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 »
    381. Benadryl -- Teratogenic Agent
     There is evidence to indicate that exposure to Benadryl 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 a...more »
    382. Benazepril -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Benazepril 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 e...more »
    383. Bencze syndrome
     A rare inherited condition characterized mainly by abnormal, asymmetrical facial bone growth and eye problems in some cases....more »
    384. Benign Fasciculation Syndrome
     Common movement disorder manifesting in a fine (fast) tremor; it is an inherited condition of unknown cause....more »
    385. Benign essential blepharospasm
     A neurological disorder where certain eye muscles fail to function properly....more »
    386. Benign mucosal pemphigoid
     A rare chronic disease involving blistering and scarring of the mucous membranes especially in the mouth and conjunctiva of the eye....more »
    387. Bentham-Driessen-Hanveld syndrome
     A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation....more »
    388. Berardinelli-Seip congenital lipodystrophy
     A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities....more »
    389. Berardinelli-Seip congenital lipodystrophy, type 1
     A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a ...more »
    390. Berardinelli-Seip congenital lipodystrophy, type 2
     A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a ...more »
    391. Beriberi
     Disease due to vitamin B1 deficiency (thiamine)...more »
    392. Berk-Tabatznik syndrome
     A rare condition characterized by eye and skeletal problems....more »
    393. Berylliosis
     A condition that results from inhalation of beryllium in to form of dust or fumes. The lungs, skin eyes or blood may be affected and the affects can occur immediately or after long term exposure....more »
    394. Besnier-Boeck-Schaumann disease
     A rare disease where inflammatory granular nodules form in various organs....more »
    395. Bessel-Hagen disease
     A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones....more »
    396. Bessman-Baldwin syndrome
     A rare disorder characterized by degeneration of the brain and the macula of the eye....more »
    397. Best Vitelliform Macular Dystrophy
     Vitelliform macular dystrophy is a rare inherited eye disorder that affects the retina and often results in progressive loss of central vision. The early-onset form of the condition is called Best Vitelliform Macular Dystrophy and usually appears during c...more »
    398. Beveridge syndrome
     A rare syndrome characterized by a large head, skeletal and visceral problems and patches of reduced skin pigmentation....more »
    399. Bhaskar-Jagannathan syndrome
     A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development....more »
    400. Biemond syndrome type 2
     A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals....more »
    401. Biemond syndrome type 3
     A rare inherited condition characterized by the inability to feel pain as well as other anomalies....more »
    402. Bindewald-Ulmer-Muller syndrome
     A rare syndrome characterized mainly by a heart defect, and mental and growth retardation....more »
    403. Bing-Neel syndrome
     A rare disorder involving infiltration of the central nervous system by abnormal leukemia-like cells (lymphoplasmocytoid cells) that occur in Waldenström's macroglobulinemia. The abnormality increases blood viscosity which impairs its circulation through ...more »
    404. Bint Al Zahab-induced lead poisoning
     Bint Al Zahab is a folk remedy used by various ethnic groups (e.g. Indians, Saudi Arabians) to treat infant colic and to facilitate the passage of meconium in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high ...more »
    405. Biotinidase deficiency
     A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes....more »
    406. Birdshot chorioretinopathy
     A rare eye disorder where the eye has a number of light-colored specks around the optic disk due to an inflammation inside the eye....more »
    407. Birdshot retinochoroidopathy syndrome
     Inflammation of the middle layer of the eye called the uvea probably caused by an autoimmune process. The rate of progression and degree of vision impairment is variable....more »
    408. Black eye
     Bleeding in the skin around the eye...more »
    409. Black henbane poisoning
     Black henbane is a herb which has hairy stems and bears flowers and fruit. All parts of the plant contain tropane alkaloids which is toxic enough to cause death if eaten. Black henbane is often used for medicinal purposes to treat a variety of health cond...more »
    410. Blastoma
     A type of tumor that originates from precursor cells or blasts (immature or embryonic tissue). The symptoms can vary greatly and are determined by the part of the body that is affected. Blastomas can occur in parts of the body such as the brain, liver, ki...more »
    411. Blepharitis
     A common eyelid inflammation...more »
    412. Blepharo facio skeletal syndrome
     A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities....more »
    413. Blepharophimosis -- nasal groove -- growth delay
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    414. Blepharophimosis -- nasal groove -- growth retardation
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    415. Blepharophimosis -- ptosis -- syndactyly -- mental retardation
     A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation....more »
    416. Blepharophimosis ptosis esotropia syndactyly short
     A rare disorder characterized by eye anomalies, webbed fingers and short stature....more »
    417. Blepharophimosis, ptosis, polythelia and brachydactyly
     A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia)....more »
    418. Blepharoptosis -- aortic anomaly
     A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta....more »
    419. Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies
     A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance....more »
    420. Blindness
     The inability to see out of the eyes...more »
    421. Blood cancer
     Malignancy of one or several of the different types of cells in the blood...more »
    422. Blue Diaper Syndrome
     A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies....more »
    423. Blue cone monochromatism
     A genetic eye disorder where the S cones function normally but the L and M cones don't resulting in poor color vision....more »
    424. Blue-ringed octopus poisoning
     The blue-ringed octopus is found in shallow Australian ocean water and can deliver venomous, potentially fatal bite. The poison is present in the saliva of the octopus. The venom affects the neuromuscular system....more »
    425. Bobble-head doll syndrome
     A rare condition where a child's head bobs up and down continuously due to either fluid on the brain or a large cyst in the third ventricle of the brain....more »
    426. Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
     A rare inherited connective tissue disorder caused by a deficiency of a blood coagulation factor....more »
    427. Boeck scabies
     Severe scabies caused by the infestation of huge numbers of mites (in the millions in some cases) under the skin. The scabies tend to live for up to four days as opposed to the normal one day and the condition can be quite contagious....more »
    428. Bokhoor-induced lead poisoning
     Bokhoor is a traditional used mainly by Saudi Arabian people to calm infants - it involves burning wood and lead sulphide and inhaling the fumes that are produced. This practice has the potential to cause lead poisoning due to the relatively high exposure...more »
    429. Bone marrow failure -- neurologic abnormalities
     A rare syndrome characterized by the association of bone marrow failure and neurological abnormalities....more »
    430. Bone-Marrow failure syndromes
     A disorder where the bone marrow fails to produce enough new blood cells....more »
    431. Bonneman-Meinecke-Reich syndrome
     A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina....more »
    432. Bonnemann-Meinecke-Reich syndrome
     A rare disorder characterized mainly by growth problems, vision problems and brain disease....more »
    433. Bonnet syndrome
     A condition where people with vision problems start having visual hallucinations (seeing things that aren't really there). The hallucinations can involve seeing lines or things such as birds or buildings that aren't there. It is usually seen in older peop...more »
    434. Bonnier's syndrome
     A range of symptoms caused by damage to Dieter's nucleus (the lateral nucleus of the vestibular nerve) or its connections....more »
    435. Borreliosis
     An infectious bacterial disorder that is transmitted by ticks and causes skin rashes joint swelling and other symptoms similar to the flu....more »
    436. Borries syndrome
     Localized brain inflammation without the production of pus....more »
    437. Borrone-Di Rocco-Crovato syndrome
     A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition....more »
    438. Bosma-Henkin-Christiansen syndrome
     A rare syndrome characterized mainly by a reduced sense of smell, an underdeveloped nose and hypogonadism....more »
    439. Bothnia retina dystrophy
     A genetic eye disease which occurs predominantly in a part of Sweden....more »
    440. Botulism food poisoning
     Extremely dangerous food poisoning requiring medical attention, but not always recognized because of its non-abdominal symptoms....more »
    441. Brachial Plexus Injury
     Damage to the nerves controlling the shoulder and arm (often from childbirth)....more »
    442. Brachycephalofrontonasal dysplasia
     A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities....more »
    443. Brachycephaly -- deafness -- cataract -- mental retardation
     A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation....more »
    444. Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation
     A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation....more »
    445. Brachydactylous dwarfism, Mseleni type
     A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee re...more »
    446. Brachydactyly -- arterial hypertension
     A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients....more »
    447. Brachydactyly -- dwarfism -- mental retardation
     A very rare syndrome characterized by short fingers, very short stature and mental retardation....more »
    448. Brachydactyly -- elbow, wrist dysplasia
     A very rare syndrome characterized by elbow and wrist abnormalities and short end bones of fingers....more »
    449. Brachydactyly -- mesomelia -- mental retardation -- heart defects
     A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs....more »
    450. Brachydactyly -- scoliosis -- carpal fusion
     A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones....more »
    451. Brachydactyly -- small stature -- face anomalies
     A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies....more »
    452. Brachydactyly preaxial with hallux varus and thumb abduction
     A rare digital anomaly characterized by short thumbs and big toes which are also abducted (angled away from the foot or hand)....more »
    453. Brachydactyly type A3
     A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the fourth finger....more »
    454. Brachydactyly type B
     A form of finger deformity characterized by absent or underdeveloped end and middle bones of fingers and toes as well as absent or underdeveloped nails....more »
    455. Brachydactyly type C
     A rare malformation characterized primarily by variable deformities involving the two sections closest to the hand of the second and third fingers....more »
    456. Brachydactyly, long thumb type
     A rare digital anomaly characterized by short fingers and a long thumb....more »
    457. Brachydactyly, type A5, nail dysplasia
     A rare digital anomaly where the middle bones of the second to fifth fingers are missing and the nails are abnormal....more »
    458. Brachydactyly, type B2
     A rare dominantly inherited hand and foot malformation involving varying degrees of absence or underdevelopment of the ends of the fingers and toes as well as fusion of bones in the wrist and ankle....more »
    459. Brachymetapody, anodontia, hypotrichosis, albinoidism
     A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation....more »
    460. Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
     A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone....more »
    461. Brachytelephalangy, characteristic facies, Kallmann
     A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies....more »
    462. Bradbury-Eggleston syndrome
     A syndrome mainly involving reduced blood pressure, lightheadedness or fainting on standing, dizziness and visual disturbances that is associated with a degeneration of the autonomic nerve system. It is most common in older males. Symptoms tend to be wors...more »
    463. Brain -- bone -- fat
     A rare inherited disease characterized by bone cysts and progressive presenile dementia....more »
    464. Brain Concussion
     Trauma resulting in minor injury to the brain which causes a period of interrupted brain function. Simple concussions resolve themselves in about a week whereas more serious ones have persisting symptoms. The onset of symptoms may be delayed....more »
    465. Brain Fag syndrome
     A type of neurotic disorder that was first observed in white collar workers in Africa....more »
    466. Brain Stem Glioma
     Tumor of the brain stem consisting of neuroglia of many stages of development....more »
    467. Brain abscess
     Pus accumulating into an abscess on the brain...more »
    468. Brain malformation -- congenital heart disease -- postaxial polydactyly
     A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers....more »
    469. Brain tumor, adult
     A growth or tumor that develops in the tissues of the brain in adults. The tumor can be benign or malignant....more »
    470. Branchial arch syndrome X-linked
     A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects....more »
    471. Branchio-skeleto-genital syndrome
     A rare inherited disorder characterized by mental retardation, jaw anomalies, cleft palate, sunken chest and other abnormalities....more »
    472. Breast Cancer
     Cancer of the breast....more »
    473. Breast cancer stages: 0, I, II, III, IV
     Cancer stage is based on the size of the tumor, whether the cancer is invasive or non-invasive, whether lymph nodes are involved, and whether the cancer has spread beyond the breast. p>Stage 0- is used to describe non-invasive breast cancers, such as DCI...more »
    474. Breast carcinoma
     Carcinoma occurring in breast tissue....more »
    475. Broken finger
     Fracture of a finger bone...more »
    476. Broken hand
     Fracture of one or more bones in the hand...more »
    477. Bromides -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Bromides 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 »
    478. Bronchiolitis Obliterans -- Ammonia inhalation
     A lung disease caused by inhalation of Ammonia. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period...more »
    479. Bronchiolitis Obliterans -- Chlorine inhalation
     A lung disease caused by inhalation of Chlorine. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a perio...more »
    480. Bronchiolitis Obliterans -- Diacetyl inhalation
     A lung disease caused by inhalation of Diacetyl. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a perio...more »
    481. Bronchiolitis Obliterans -- Hydrogen bromide inhalation
     A lung disease caused by inhalation of Hydrogen bromide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over...more »
    482. Bronchiolitis Obliterans -- Hydrogen chloride inhalation
     A lung disease caused by inhalation of Hydrogen chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms ove...more »
    483. Bronchiolitis Obliterans -- Hydrogen fluoride inhalation
     A lung disease caused by inhalation of Hydrogen fluoride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms ove...more »
    484. Bronchiolitis Obliterans -- Hydrogen sulfide inhalation
     A lung disease caused by inhalation of Hydrogen sulfide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over...more »
    485. Bronchiolitis Obliterans -- Methyl isocyanate inhalation
     A lung disease caused by inhalation of Methyl isocyanate. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms ove...more »
    486. Bronchiolitis Obliterans -- Nitrogen Oxide inhalation
     A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over ...more »
    487. Bronchiolitis Obliterans -- Ozone inhalation
     A lung disease caused by inhalation of ozone. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period o...more »
    488. Bronchiolitis Obliterans -- Phosgene inhalation
     A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over ...more »
    489. Bronchiolitis Obliterans -- Polyamide-amine dyes inhalation
     A lung disease caused by inhalation of Polyamide-amine dyes. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms ...more »
    490. Bronchiolitis Obliterans -- Sulphur dioxide inhalation
     A lung disease caused by inhalation of Sulphur dioxide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over ...more »
    491. Bronchiolitis Obliterans -- Thionyl chloride inhalation
     A lung disease caused by inhalation of Thionyl chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over...more »
    492. Bronchopulmonary dysplasia
     A rare form of infant lung disease that usually occurs as a complication of ventilator use in premature babies....more »
    493. Brown snake poisoning
     The Brown snake is a poisonous Australian snake. They are considered one of the most venomous snakes in the world and their bite can result in death without prompt medical attention. The snake venom contains toxins which affect the blood and nerve systems...more »
    494. Brown syndrome
     A rare eye disorder characterized by inability to move the affected eye upwards due to an abnormality in the muscle that controls the eye movement. The condition may be congenital or result from an underlying condition or an injury....more »
    495. Brown-McLean syndrome
     Swelling around the cornea following cataract removal....more »
    496. Brugsch's syndrome
     A rare syndrome characterized by small hands and feet as well as thickened skin on the hands, feet, scalp and face....more »
    497. Brun's syndrome
     Various neurological symptoms caused by an obstruction of the flow of cerebrospinal fluid with certain head postures. The obstruction is often due to some sort of brain tumor or cyst. Symptoms come and go depending on the position of the head....more »
    498. Brushfield-Wyatt syndrome
     A rare syndrome characterized mainly by mental deficiency, weakness on one side of the body and large port-wine stains that cover about a third of the skin's total surface. This condition may be a variant of another condition called Sturge-Weber syndrome....more »
    499. Budesonide -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Budesonide 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 e...more »
    500. Buerger's disease
     Buergers's disease is a recurring inflammation and thrombosis (clotting) of small and medium arteries and veins of the hands and feet...more »
    501. Bulimia nervosa
     Eating disorder with binging (overeating) and purging (vomiting)....more »
    502. Bullous dystrophy, macular type
     A rare condition characterized by loss of scalp hair, increased skin pigmentation, small head, mental retardation, short stature and blisters. The blisters do not form necessarily on skin that has suffered trauma but occurs spontaneously....more »
    503. Buntinx-Lormans-Martin syndrome
     A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones....more »
    504. Bushmaster poisoning
     The Bushmaster is a poisonous snake found in America....more »
    505. Buttiens-Fryns syndrome
     A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet....more »
    506. Bébé Collodion syndrome
     A rare birth abnormality where an infant is born covered in a tight, yellow, shiny membrane. The membrane peels off and may reform several times. As the membrane dries it can leave crack which can result in infection, dehydration or inability to control b...more »
    507. C-like syndrome
     A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay....more »
    508. CAMFAK syndrome
     A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature....more »
    509. CAR syndrome
     A progressive autoimmune eye disease caused by cancer that occurs outside the eye area. It is a type of paraneoplasic cancer which refers to distant neurological effects caused by a cancer. Eye symptoms usually occur before the cancer is detected....more »
    510. CCFDN
     A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy....more »
    511. CDG syndrome type 1A
     A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervou...more »
    512. CDG syndrome type 4
     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 4 is caused by a genetic defect which involves t...more »
    513. CFS subtype 1 (cognitive, musculoskeletal, sleep, anxiety/depression)
     Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of...more »
    514. CFS subtype 2 ( musculoskeletal, pain, anxiety/depression)
     Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of...more »
    515. CFS subtype 3 (mild)
     Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of...more »
    516. CFS subtype 4 (cognitive, musculoskeletal, sleep, anxiety/depression)
     Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of...more »
    517. CFS subtype 5 (musculoskeletal, gastrointestinal)
     Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of...more »
    518. CFS subtype 6 (postexertional)
     Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of...more »
    519. CFS subtype 7 (pain, infectious, musculoskeletal, sleep, neurological, gastrointestinal, neurocognitive, anxiety/depression)
     Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of...more »
    520. CHILD syndrome ichthyosis
     A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects....more »
    521. CMV antenatal infection
     A rare condition where a fetus becomes infected with the cytomegalovirus through the mother....more »
    522. COACH syndrome
     A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities....more »
    523. COFS syndrome
     A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage....more »
    524. COPD
     Severe obstruction of bronchial air flow typically from bronchitis and/or emphysema....more »
    525. Calcification of basal ganglia with or without hypocalcemia
     Calcification of a part of the brain called the basal ganglia. That calcification may be associated with conditions such as hypothyroidism, cytomegalovirus, and AIDS or may occur for no apparent reason. The severity of the condition may vary greatly from ...more »
    526. Calcium deficiency
     Dietary deficiency of calcium....more »
    527. Callus
     Thickening of skin on hands or feet....more »
    528. Camera Costa Syndrome
     Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect....more »
    529. Camera-Marugo-Cohen syndrome
     A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body....more »
    530. Campomelia Cumming type
     A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after....more »
    531. Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia
     A rare syndrome characterized by a hand deformity and skeletal abnormalities....more »
    532. Camptodactyly -- joint contractures and facial skeletal dysplasia
     A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly)....more »
    533. Camptodactyly -- taurinuria
     A rare disorder characterized by high urinary levels of taurine as well as a hand malformation....more »
    534. Camptodactyly syndrome, Guadalajara type 2
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly)....more »
    535. Camptodactyly syndrome, Guadalajara type 3
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly)....more »
    536. Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
     A rare syndrome characterized by a hand deformity and skeletal abnormalities....more »
    537. Camptodactyly, tall stature, and hearing loss syndrome
     A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment....more »
    538. Camurati Engelmann disease, type 2
     A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were n...more »
    539. Camurati-Engelmann Disease
     A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain....more »
    540. Canavan leukodystrophy
     A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms....more »
    541. Cantu Sanchez-Corona Garcia-cruz syndrome
     A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities....more »
    542. Cantú syndrome
     A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage...more »
    543. Captopril -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Captopril 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 »
    544. Carbamazepine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Carbamazepine 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 o...more »
    545. Cardiac malformation
     Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depe...more »
    546. Cardiomyopathy -- hypogonadism -- metabolic anomalies
     A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism....more »
    547. Cardiomyopathy cataract hip spine disease
     A rare genetic disorder characterized by heart muscle disease, cataracts and hip and spinal problems....more »
    548. Cardiomyopathy, dilated, with Woolly hair and keratoderma
     A rare syndrome characterized by heart muscle disease involving dilation of the heart ventricles, woolly hair and thickened skin on the palms and soles....more »
    549. Carnevale-Canun-Mendoza syndrome
     A rare disorder characterized by loss of bone tissue in the wrists and ankles as well as kidney problems....more »
    550. Carnevale-Hernandez-Castillo syndrome
     An extremely rare disorder characterized by missing digits or parts of digits and a thumb that has three bones like a finger instead of the normal two....more »
    551. Carnevale-Krajewska-Fischetto syndrome
     A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay....more »
    552. Carpal Tunnel Syndrome
     Hand or wrist problems; often from repetitive motion....more »
    553. Carpal deformity -- micrognathia -- microstomia
     A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth....more »
    554. Carpotarsal osteochondromatosis
     A rare disorder characterized by a painless swelling in the ankles and wrists which restricts their range of motion. The swelling is caused by abnormal growths on the wrist and ankle bones. The number of joints involved is variable....more »
    555. Cartilaginous -- arthritic -- ophthalmic -- deafness syndrome
     A rare syndrome characterized by the association of eye, joint and cartilage disease as well as deafness....more »
    556. Cartwright-Nelson-Fryns syndrome
     A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities....more »
    557. Casanthranol -- Teratogenic Agent
     There is evidence to indicate that exposure to Casanthranol (a laxative) 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 le...more »
    558. 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 »
    559. Cat's cry
    560. Cataract -- Hypertrichosis -- Intellectual Deficit
     A rare genetic disorder characterized mainly by excessive body hair (especially on the back, shoulders and sides of the face), cataracts and mental retardation....more »
    561. Cataract -- aberrant oral frenula -- growth delay
     A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum)....more »
    562. Cataract -- ataxia -- deafness
     A rare syndrome characterized by cataracts, ataxia and progressive deafness....more »
    563. Cataract -- intellectual deficit -- anal atresia -- urinary defects
     A very rare syndrome characterized mainly by cataracts, mental retardation and genitourinary tract abnormalities and absent anal opening....more »
    564. Cataract Hutterite type
     An inherited form of cataract that occurs in children and is not associated with any other abnormalities....more »
    565. Cataract and cardiomyopathy
     A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts...more »
    566. Cataract and congenital ichthyosis
     A rare syndrome characterized by the presence of cataracts and a dry, scaly skin condition (ichthyosis) at birth or soon after....more »
    567. Cataract congenital dominant non nuclear
     A dominantly inherited form of cataract which varied in size, pattern and location of the lens opacities....more »
    568. Cataract dental syndrome
     A very rare inherited condition mainly involving eye abnormalities but also various other physical abnormalities. The type and severity of symptoms is variable....more »
    569. Cataract skeletal anomalies
     A condition characterized by the association of cataracts and skeletal anomalies. Variable other symptoms may also be present....more »
    570. Cataract, Zonular Pulverulent 1
     A genetic form of congenital cataract inherited in an autosomal dominant manner. Diagnosis usually occurs in the first few years of life. Type 1 refers to the fact that this subtype is linked to a defect on chromosome 1q21.1....more »
    571. Cataract, Zonular Pulverulent 3
     A genetic form of congenital cataract inherited in an autosomal dominant manner. Diagnosis usually occurs in the first few years of life. Type 3 refers to the fact that this subtype is linked to a defect on chromosome 13q11....more »
    572. Cataract, alopecia, sclerodactyly
     A rare disorder characterized by cataracts, lack of hair and skin changes in the hands and feet....more »
    573. Cataract, anterior polar, dominant
     A rare, dominantly inherited type of cataract which is characterized by small opacities on the front surface of the eye lens. Vision is usually not affected and the cataract is not associated with any other abnormalities. Type 1 is caused by a genetic def...more »
    574. Cataract, autosomal recessive congenital 2
     A rare, recessively inherited, genetic eye disorder involving congenital cataracts (cloudy eye lens)....more »
    575. Cataract, autosomal recessive congenital 3
     A rare, recessively inherited, genetic eye disorder involving congenital cataracts (cloudy eye lens). Type 3 is distinguished by the origin of the genetic defect which is linked to the cataracts....more »
    576. Cataract, congenital nuclear, autosomal recessive 1
     A rare recessively inherited type of congenital cataract that is not associated with any other abnormality. Type 1 is caused by a mutation on chromosome 19q13....more »
    577. Cataract, congenital nuclear, autosomal recessive 2
     A rare recessively inherited type of congenital cataract that is not associated with any other abnormality. Type 2 is caused by a mutation in the beta-B3 crystallin gene on chromosome 22q11.2-q12.2....more »
    578. Cataract, congenital, Volkmann type
     A dominantly inherited form of cataract that was observed in a family named Volkmann. Cataract surgery was required in most cases within the first 20 years of life....more »
    579. Cataract, congenital, autosomal dominant
     A dominantly inherited form of cataract....more »
    580. Cataract, congenital, cerulean, type 1
     A type of cataract that occurs at birth or soon after and has a characteristic blue color with spoke-like opacities radiating from the centre of the lens. Type 1 is caused by a defect on chromosome 17q24....more »
    581. Cataract, congenital, cerulean, type 2
     A type of cataract that occurs at birth or soon after and has a characteristic blue color with spoke-like opacities radiating from the centre of the lens. Type 2 is caused by a defect on chromosome 22q11.2-q12.2....more »
    582. Cataract, congenital, cerulean, type 3
     A type of cataract that occurs at birth or soon after and has a characteristic blue color with spoke-like opacities radiating from the centre of the lens. Type 3 is caused by a defect on chromosome 2q33-q35....more »
    583. Cataract, congenital, with microcornea or slight microphthalmia
     A rare genetic eye disorder characterized by congenital cataracts (cloudy eye lens) and slightly small eyes or small corneas....more »
    584. Cataract, crystalline aculeiform or frosted
     An inherited form of congenital cataract characterized by tiny, needle-like crystals in the axial part of the eye lens. It usually affects both eyes and the degree of vision impairment is variable....more »
    585. Cataract, crystalline coralliform
     An inherited form of congenital cataract characterized by opacities in the eye lens which resembles sea coral. It usually affects both eyes and the degree of vision impairment is variable....more »
    586. Cataract, juvenile, with microcornea and glucosuria
     A rare disorder characterized by the association of juvenile cataracts, small corneas and excessive glucose in the urine....more »
    587. Cataract, microphthalmia and nystagmus
     A rare genetic eye disorder characterized by congenital cataracts (cloudy eye lens), small eyes and rapid, involuntary eye movements....more »
    588. Cataract, posterior polar, 1
     An inherited form of cataract caused by a defect on chromosome 1pter-p36.1....more »
    589. Cataract, posterior polar, 2
     An inherited form of cataract caused by a defect in the CRYAB gene on chromosome 11q....more »
    590. Cataract, posterior polar, 3
     An inherited form of cataract caused by a defect in the CHMP4B gene on chromosome 20q11....more »
    591. Cataract, posterior polar, 4
     An inherited form of cataract caused by a defect in the PITX3 gene on chromosome 10q25....more »
    592. Cataract, posterior polar, 5
     An inherited form of cataract caused by a defect on chromosome 14q22-q23. The cataract becomes apparent during early childhood and slowly progresses....more »
    593. Cataract, total congenital
     An inherited form of cataract which is present at birth and involves opacity of the whole lens....more »
    594. Cataract, zonular
     A congenital cataract where the lens opacities occur around the nucleus but not within it....more »
    595. Cataract-glaucoma
     A rare syndrome characterized by congenital cataracts in both eyes as well as glaucoma which tends to occur between the ages of 10 and 40....more »
    596. Cataract-microcornea syndrome
     A rare disorder characterized mainly early onset cataracts, small corneas and myopia....more »
    597. Cataracts
     Cloudy areas on the eye's cornea interfering with vision....more »
    598. Catastrophic Antiphospholipid Syndrome
     A very rare disorder where the blood clotting system becomes dysfunctional and clots too easily due to the abnormal presence of antphospholipid antibodies. It results in blood flow blockages to various body organs. It is possible that the condition has au...more »
    599. Catel-Manzke Syndrome
     A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger....more »
    600. Cathinone poisoning
     Cathinone comes from the leaves of the Khat plant which is native to eastern Africa. Cathinone is a stimulant as well as have pain killing, weight loss and neuromuscular effects. The psychoactive effects are usually utilized by chewing on the leaves of th...more »
    601. Cebagin-induced lead poisoning
     Cebagin is a folk remedy used mainly by Middle Eastern people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk r...more »
    602. Celiac disease -- epilepsy -- occipital calcifications
     A rare syndrome characterized by celiac disease and epilepsy with brain calcifications....more »
    603. Cellulitis
     Inflammation of skin or subcutaneous tissues....more »
    604. Cennamo-Gangemi syndrome
     A rare syndrome characterized by small eyes, congenital cataracts and hydrocephalus (buildup of fluid in the brain)....more »
    605. Central nervous system lymphoma, primary
     A type of lymphoma that occurs in the central nervous system (brain and spinal cord). A lymphoma consists of cancerous lymphocytes which are a type of white blood cell. Symptoms vary according to the location of the lymphoma....more »
    606. Central nervous system oxygen toxicity
     High oxygen levels which affects the central nervous system. The condition can occur during deep dives with fatal consequences....more »
    607. Central serous chorioretinopathy
     A rare eye disorder where fluid collects under the retina which affects vision. The condition usually resolves itself within 6 months though most people suffering lingering vision disturbances such as distortion, reduced sensitivity to contrast, impaired ...more »
    608. Cephalopolysyndactyly
     A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relative...more »
    609. Cerebellar ataxia -- areflexia -- pes cavus -- optic atrophy -- sensorineural hearing loss
     A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. The ataxia then ...more »
    610. Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
     A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. The ataxia then ...more »
    611. Cerebellar atrophy with progressive microcephaly
     A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures....more »
    612. Cerebellar hypoplasia -- tapetoretinal degeneration
     A rare disorder character where a part of the brain (cerebellum) is underdeveloped and a nonprogressive eye disorder involving the retinal pigments. The cerebellum is the part of the brain that controls balance and movement....more »
    613. Cerebellar vermis hypoplasia -- oligophrenia -- congenital ataxia -- coloboma -- hepatic fibrosis
     A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities....more »
    614. Cerebelloparenchymal autosomal recessive disorder 3
     A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems....more »
    615. Cerebellum agenesis -- hydrocephaly
     A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation....more »
    616. Cerebral Aneurysm
     Dangerous swelling of a brain blood vessel that may rupture....more »
    617. Cerebral Arteriosclerosis
     Hardening or blockage of arteries in the brain....more »
    618. Cerebral Atrophy
     Wasting away of the brain....more »
    619. Cerebral Palsy
     Any brain disorder causing movement disability...more »
    620. Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
     A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles....more »
    621. Cerebral hemorrhage
     Bleeding in the brain...more »
    622. Cerebral sarcoma
     A type of brain tumor that can be inherited in an autosomal dominant manner. The tumor arises from blood vessels in the brain. Symptoms may vary depending on the size and exact location of the tumor....more »
    623. Cerebro oculo genital syndrome
     A very rare syndrome characterized mainly by brain, eye and genital abnormalities....more »
    624. Cerebro oculo skeleto renal syndrome
     A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities....more »
    625. Cerebro-oculo-dento-auriculo-skeletal syndrome
     A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton....more »
    626. Cerebro-oculo-nasal syndrome
     A rare syndrome characterized mainly by eye, nose and brain malformations....more »
    627. Cerebrorenodigital syndrome
     A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities....more »
    628. Cerebrorenodigital syndrome with limb malformations and triradiate acetabula
     A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities as well as an abnormal hip socket....more »
    629. Cerebrovascular Conditions
     Conditions of the brain's blood vessels including stroke....more »
    630. Ceroid lipofuscinosis, neuronal 1, infantile
     A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it....more »
    631. Ceroid lipofuscinosis, neuronal 3, Juvenile
     A progressive genetic disorder where defective lipid metabolism that causes blindness, neurological deterioration, dementia leading to total incapication within years and death within 10-15 years....more »
    632. Ceroid lipofuscinosis, neuronal 4
     A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase 1) needed to process it....more »
    633. Ceroid lipofuscinosis, neuronal 9
     A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 9 is distinguished from other types by the origin of the genetic defect....more »
    634. Cerulean cataract
     A type of cataract that occurs at birth or soon after and has a characteristic blue color with spoke-like opacities radiating from the centre of the lens....more »
    635. Cervenka's syndrome
     A rare syndrome characterized by joint and facial abnormalities as well as nearsightedness and degenerative eye problems....more »
    636. Cervical hypertrichosis neuropathy
     A very rare disorder characterized mainly by a hairy throat and abnormal sensations in the hands and feet....more »
    637. Chalazion
     Slow-growing swelling of the upper or lower eyelid usually caused by a blockage in the oil glands in the eyelid....more »
    638. Charcot-Marie-Tooth Disorder
     Degeneration of limb muscles....more »
    639. Charcot-Marie-Tooth disease -- deafness
     Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease ...more »
    640. Charcot-Marie-Tooth disease deafness recessive type
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a ...more »
    641. Charcot-Marie-Tooth disease, Type 1A
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1A is inherited as an autosomal dominant patter...more »
    642. Charcot-Marie-Tooth disease, Type 1B
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1B is inherited as an autosomal dominant patter...more »
    643. Charcot-Marie-Tooth disease, Type 1C
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1C is inherited as an autosomal dominant patter...more »
    644. Charcot-Marie-Tooth disease, Type 1D
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1D is caused by a defect of the ERG2 gene on ch...more »
    645. Charcot-Marie-Tooth disease, Type 1E
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as d...more »
    646. Charcot-Marie-Tooth disease, Type 1F
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1F is caused by a defect of a gene in chromosom...more »
    647. Charcot-Marie-Tooth disease, Type 2A
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function....more »
    648. Charcot-Marie-Tooth disease, Type 2AI
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A1 has an autosomal dominant inheritance and i...more »
    649. Charcot-Marie-Tooth disease, Type 2AII
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A2 has an autosomal dominant inheritance and i...more »
    650. Charcot-Marie-Tooth disease, Type 2B2
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B2 has an autosomal dominant inheritance and i...more »
    651. Charcot-Marie-Tooth disease, Type 2C
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and in...more »
    652. Charcot-Marie-Tooth disease, Type 2D
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2D has an autosomal dominant inheritance and in...more »
    653. Charcot-Marie-Tooth disease, Type 2E
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and in...more »
    654. Charcot-Marie-Tooth disease, Type 2F
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2F has an autosomal dominant inheritance and in...more »
    655. Charcot-Marie-Tooth disease, Type 4A
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and i...more »
    656. Charcot-Marie-Tooth disease, Type 4B1
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B1 has an autosomal recessive inheritance and ...more »
    657. Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This type is characterized by the involvement of gla...more »
    658. Charcot-Marie-Tooth disease, Type 4C
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and ...more »
    659. Charcot-Marie-Tooth disease, Type 4E
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and ...more »
    660. Charcot-Marie-Tooth disease, Type 4F
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritan...more »
    661. Charcot-Marie-Tooth disease, Type 4G
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4G has an autosomal recessive form of inheritan...more »
    662. Charcot-Marie-Tooth disease, Type 4H
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritan...more »
    663. Charcot-Marie-Tooth disease, X-linked
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome a...more »
    664. Charcot-Marie-Tooth disease, X-linked recessive, 3
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X3 is an inherited defect of the X chromosome a...more »
    665. Charcot-Marie-Tooth disease, X-linked recessive, 5
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome a...more »
    666. Charcot-Marie-Tooth disease, X-linked, 1
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X1 is an inherited defect of the X chromosome (...more »
    667. Charcot-Marie-Tooth disease, type 4
     A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects....more »
    668. Charcot-Marie-Tooth, demyelinating, autosomal recessive
     CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritanc...more »
    669. Charlie M syndrome
     A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs....more »
    670. Chemical adverse reaction -- Cesium
     Cesium is a chemical used mainly in the photosterilization of foods such as wheat and potatoes and in the manufacture of photoelectric cells. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varie...more »
    671. Chemical burn -- eyes
     Burns to the eye caused by a chemical. Symptoms vary depending on the type, quantity and strength of the chemical involved as well as the duration of the exposure to the chemical and promptness of treatment measures. Immediate medical attention should be ...more »
    672. Chemical burn -- ingestion
     Burns to the mouth and gastrointestinal system caused by swallowing a chemical. Symptoms vary depending on the type, quantity and strength of the chemical involved as well as the duration of the exposure to the chemical and promptness of treatment measure...more »
    673. Chemical poisoning
     Morbid condition caused by chemical....more »
    674. Chemical poisoning -- 1,3-Butadiene
     1,3-Butadiene is a chemical used in crop fungicides, carpet backing, paper coating and foams. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    675. Chemical poisoning -- 1,3-Dinitrobenzene
     1,3-Dinitrobenzene is a chemical used mainly in explosives. The chemical can be readily absorbed through the skin and cause systemic symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the expo...more »
    676. Chemical poisoning -- 1-Amino-2-propanol
     1-Amino-2-propanol is a chemical used mainly in the synthesis of various pharmaceuticals such as methadone and opioid. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amou...more »
    677. Chemical poisoning -- 1-Pentanethiol
     1-Pentanethiol is a chemical used mainly in pesticides. 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 »
    678. Chemical poisoning -- 2-Amino-2-methylpropanol
     2-Amino-2-methylpropanol is a chemical used mainly in industrial applications. 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 o...more »
    679. Chemical poisoning -- 2-Hexanone
     2-Hexanone is a chemical used mainly in paints, solvents and coated fabrics. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    680. Chemical poisoning -- Acetic Anhydride
     Acetic Anhydride is a chemical used mainly in various industrial processes as well as the production of pharmaceutical products such as aspirin and acetyl salicylic acid. It is also used in the production of heroin. Ingestion and other exposures to the ch...more »
    681. Chemical poisoning -- Acetophenone
     Acetophenone is a chemical used mainly as a fragrance, food flavoring agent and as a solvent for plastics and resins. It is also found naturally in small quantities in foods such as bananas, apples and beef. Ingestion and other exposures to the chemical c...more »
    682. Chemical poisoning -- Adiponitrile
     Adiponitrile is a chemical used mainly in the production of hexamethylene diamine which in turn is used mainly to produce nylon. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending o...more »
    683. Chemical poisoning -- Allyl Glycidyl Ether
     Allyl Glycidyl Ether is a chemical used mainly in the production of epoxies, thermoplastics, polyester resins, adhesives and elastomers. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptom...more »
    684. Chemical poisoning -- Allyl alcohol
     Allyl alcohol is a chemical used mainly as a weed killers and as a material in the production of other chemical compounds. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical invo...more »
    685. Chemical poisoning -- Allyl chloride
     Allyl chloride is a chemical used mainly in the manufacture of epichlorohydrin and glycerin but is also used in the production of products such as polyester, varnish plastic adhesive, insecticides, perfumes and pharmaceuticals. Ingestion and other exposur...more »
    686. Chemical poisoning -- Amidithion
     Amidithion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    687. Chemical poisoning -- Amiton
     Amiton is a chemical once used as an insecticide and acaricide - it is no longer in use due to its nerve toxicity. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and seve...more »
    688. Chemical poisoning -- Amitrole
     Amitrole is a herbicide. 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 »
    689. Chemical poisoning -- Anisole
     Anisole is a chemical used mainly as a solvent and food additive and also in perfumes and detergents. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    690. Chemical poisoning -- Anti-rust products
     Anti-rust products contain various chemicals which are toxic if ingested. The ingested chemicals can continue to cause damage to the organs and gastrointestinal lining for weeks after the ingestion and severe cases can result in death. The type and severi...more »
    691. Chemical poisoning -- Antifreeze
     Antifreeze is used in vehicles to prevent freezing or boiling over of the cooling system. The chemicals (methanol, ethylene and propylene glycol) in the antifreeze can cause severe poisoning symptoms if ingested. The type and severity of symptoms varies d...more »
    692. Chemical poisoning -- Asbestos
     Asbestos is a chemical used in a wide range of materials: heat and sound insulation, wall and ceiling panels, pipe insulation, floor tiles, toasters, cements, brake pads, roofing materials and furnaces. Ingestion and other exposures to the chemical can ca...more »
    693. Chemical poisoning -- Asphalt
     Asphalt is the substance used in road surfacing and is also used in electrical adhesive and paints. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    694. Chemical poisoning -- Athyl-Gusathion
     Athyl-Gusathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on ...more »
    695. Chemical poisoning -- Automatic dishwashing detergent
     Automatic dishwashing detergents contain chemicals which can cause severe symptoms if ingested. The chemicals in the dishwashing detergent cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested. Dea...more »
    696. Chemical poisoning -- Azinfos-methyl
     Azinfos-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on t...more »
    697. Chemical poisoning -- Azinfosethyl
     Azinfosethyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the...more »
    698. Chemical poisoning -- Azinophos-methyl
     Azinophos-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on...more »
    699. Chemical poisoning -- Azinphos
     Azinphos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amo...more »
    700. Chemical poisoning -- Azinphos-ethyl
     Azinphos-ethyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on t...more »
    701. Chemical poisoning -- Azinphos-methyl
     Azinphos-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on ...more »
    702. Chemical poisoning -- Azinphosmetile
     Azinphosmetile is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on t...more »
    703. Chemical poisoning -- Azothoate
     Azothoate is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    704. Chemical poisoning -- Benoxafos
     Benoxafos is a chemical pesticide used as an acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical...more »
    705. Chemical poisoning -- Boric Acid
     Boric Acid is a chemical used mainly in foods (preservative, emulsifier, neutralizer), antiseptics, pesticides and contact lens cleaners. Ingestion and other exposures to the chemical can cause various symptoms. Application of boric acid directly to damag...more »
    706. Chemical poisoning -- Bromide
     Bromide is a chemical used for many applications - flame retardant, industrial uses, pesticides, sanitary products, fumigants, medicines, dyes, photographic solutions and water purification. Bromides act as central nervous system depressants and the inges...more »
    707. Chemical poisoning -- Bromophos
     Bromophos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    708. Chemical poisoning -- Bromophos-ethyl
     Bromophos-ethyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on ...more »
    709. Chemical poisoning -- Butylamines
     Butylamines are chemicals used in a variety of manufacturing processes such as in the production of pesticides, pharmaceuticals, plastics, dyes, textiles and in leather tanning and photography. Ingestion and other exposures to the chemical can cause vario...more »
    710. Chemical poisoning -- Cadusafos
     Cadusafos is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    711. Chemical poisoning -- Calcium Oxide
     Calcium oxide is a chemical used mainly in sewage treatment, dry cement and in the manufacture of products such as aluminum, glass and steel. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varie...more »
    712. Chemical poisoning -- Calcium hypochlorite
     Calcium hypochlorite is a chemical used mainly in bleaching products, fungicides, algicides, disinfectants and deodorants. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the ...more »
    713. Chemical poisoning -- Captan
     Captan is a chemical used as a fungicide. 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. The chemical is consi...more »
    714. Chemical poisoning -- Carbaryl
     Carbaryl is a carbamate pesticide used mainly as an insecticide and acaricide. 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 o...more »
    715. Chemical poisoning -- Carbinoxamine
     Carbinoxamine is a therapeutic treatment for allergic rhinitis. It is marketed under names such as Histex, Pediatiex and Carboxine. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies dependin...more »
    716. Chemical poisoning -- Carbon Disulfide
     Carbon Disulfide is a chemical used mainly in corrosion inhibitors, cold and nickel plating, photography applications and as a solvent in gums and resins. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of s...more »
    717. Chemical poisoning -- Carbophenothion
     Carbophenothion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on ...more »
    718. Chemical poisoning -- Caulking products
     Caulking products (e.g. silicon, acrylic, neoprene) are used to seal gaps and the chemicals in them 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 »
    719. Chemical poisoning -- Chlordane
     Chlordane is a poison use to control termites - is banned in the US and many other countries due to its harmful effects. Ingestion and other exposures to the chemical can cause various symptoms. The chemical is readily absorbed through the skin. The type ...more »
    720. Chemical poisoning -- Chlordecone
     Chlordecone is an insecticide used to control pests in crops such as bananas and tobacco. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be readily absorbed through the skin. The type and severity of symptoms va...more »
    721. Chemical poisoning -- Chlorfenvinphos
     Chlorfenvinphos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on ...more »
    722. Chemical poisoning -- Chlorine
     Chlorine is a chemical used mainly in bleaches, water disinfectants and in pulp mills. Ingestion and other exposures to the chemical can cause various symptoms. Chlorine is very corrosive and extensive damage to body tissues can result. The type and sever...more »
    723. 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 »
    724. Chemical poisoning -- Chlorobenzene
     Chlorobenzene is a chemical used mainly as a solvent and in the production of various other chemicals. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical i...more »
    725. Chemical poisoning -- Chloroform
     Chloroform is a chemical used mainly as a refrigerant but also as a solvent in various processing and industrial applications. It's use as an anesthetic is relatively uncommon these days. Ingestion and other exposures to the chemical can cause various sym...more »
    726. Chemical poisoning -- Chloromethane
     Chloromethane is a chemical used mainly in the production of silicones as well as agricultural chemicals, butyl rubber and other products. Ingestion and other exposures to the chemical can cause various symptoms. The chemical is readily absorbed through t...more »
    727. Chemical poisoning -- Chloropyrifos
     Chloropyrifos is a chemical pesticide used as an insecticide, nematicide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies dep...more »
    728. Chemical poisoning -- Chlorpyrifos
     Chlorpyrifos is a chemical used mainly in as an insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be absorbed readily through the skin. The type and severity of symptoms varies depending on the amount ...more »
    729. Chemical poisoning -- Chlorpyrifos methyl
     Chlorpyrifos methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending...more »
    730. Chemical poisoning -- Cloth Dyes
     Cloth dyes contain chemicals which are considered not toxic but the ingestion of large amounts cay cause symptoms. Some dyes contain corrosive ingredients which can cause severe gastrointestinal damage and even death in severe cases. Most household cloth ...more »
    731. Chemical poisoning -- Coumaphos
     Coumaphos is used as a pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be absorbed readily through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and th...more »
    732. Chemical poisoning -- Cyanthoate
     Cyanthoate is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    733. Chemical poisoning -- Cyclohexanol
     Cyclohexanol is a chemical used mainly as an industrial solvent and used in the manufacture of products such as plastic, nylon, soap, varnish, paint, lacquer, degreasers, detergent and insecticides. Ingestion and other exposures to the chemical can cause ...more »
    734. Chemical poisoning -- Cyclohexanone
     Cyclohexanone is a chemical used mainly as an industrial solvent, in processes involving oxidative reactions and in the manufacture of certain resins, nylons, insecticides, herbicides, paints, varnish, polishes, degreasers and pharmaceuticals. Ingestion a...more »
    735. Chemical poisoning -- DDD
     DDD is a chemical used mainly as a pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical inv...more »
    736. Chemical poisoning -- DDT
     DDT is a chemical used mainly as a pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical inv...more »
    737. Chemical poisoning -- Demeton
     Demeton-S is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    738. Chemical poisoning -- Demeton-O
     Demeton-O is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    739. Chemical poisoning -- Demeton-O-methyl
     Demeton-O-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on...more »
    740. Chemical poisoning -- Demeton-S-methyl
     Demeton-S-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on...more »
    741. Chemical poisoning -- Demeton-S-methylsulphon
     Demeton-S-methylsulphon is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depen...more »
    742. Chemical poisoning -- Demeton-methyl
     Demeton-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on t...more »
    743. Chemical poisoning -- Deoderant
     Deoderants contain various chemicals which can cause serious symptoms if sufficient quantities are ingested. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    744. Chemical poisoning -- Depilatories
     Depilatories are used to remove hair from parts of the body. They contain various chemicals which can cause serious symptoms if sufficient quantities are ingested. The chemicals cause damage to the gastrointestinal lining and the damage may continue for w...more »
    745. Chemical poisoning -- Dialifos
     Dialifos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amo...more »
    746. Chemical poisoning -- Diazinon
     Diazinon is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amo...more »
    747. Chemical poisoning -- Dichlorvos
     Dichlorvos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    748. Chemical poisoning -- Dicrotophos
     Dicrotophos is a toxic 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 exposure....more »
    749. Chemical poisoning -- Diesel oil
     Diesel oil is a commonly used fuel. Ingestion is unlikely due to the foul taste and smell. Accidental or purposeful ingestion can result in internal burns and various other symptoms. The type and severity of symptoms varies depending on the amount of chem...more »
    750. Chemical poisoning -- Dimethoate
     Dimethoate is a chemical pesticide used as an insecticide, nematicide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depend...more »
    751. Chemical poisoning -- Dinitrophenol
     Dinitrophenol is a chemical that has various applications: herbicide, pesticide, fungicide, acaricide, manufacture of dyes and wood preservative. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms v...more »
    752. Chemical poisoning -- Dioxathion
     Dioxathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    753. Chemical poisoning -- Disulfoton
     Disulfoton is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    754. Chemical poisoning -- Drain Cleaners
     Drain cleaners contain chemicals which can cause severe symptoms if ingested. The chemicals in the drain cleaners cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested. Death can result in severe c...more »
    755. Chemical poisoning -- Drainpipe Cleaners
     Drainpipe Cleaners contain chemicals which can cause severe symptoms if ingested. The chemicals in the drainpipe cleaners cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested. Death can result in ...more »
    756. Chemical poisoning -- Dye remover
     Dye removers can contain chemicals which are corrosive and can cause severe gastrointestinal damage and even death in severe cases. The damage may continue for a few weeks after ingestion so death can occur weeks after the incident. The type and severity ...more »
    757. Chemical poisoning -- Endothion
     Endothion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    758. Chemical poisoning -- Ether
     Ether is a chemical used mainly as an anesthetic and industrial solvent. 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 ...more »
    759. Chemical poisoning -- Ethion
     Ethion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amoun...more »
    760. Chemical poisoning -- Ethoate-methyl
     Ethoate-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on t...more »
    761. Chemical poisoning -- Ethoprophos
     Ethoprophos is a chemical pesticide used as an insecticide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chem...more »
    762. Chemical poisoning -- Ethyl-guthion
     Azinphos-ethyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on t...more »
    763. Chemical poisoning -- Ethylamine
     Ethylamine is a chemical used mainly in the manufacture of dyes, rayon, rocket propellant, as a fuel additive and in leather-tanning and cellulose treatment. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity o...more »
    764. Chemical poisoning -- Ethylene Dichloride
     Ethylene Dichloride is a chemical used mainly in fat solvents and as a fumigant. 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...more »
    765. Chemical poisoning -- Ethylenediamine
     Ethylenediamine is a chemical used mainly as a solvent in the manufacturing process for the production of things such as fungicides, waxes, gasoline additives and pharmaceuticals. Ingestion and other exposures to the chemical can cause various symptoms. T...more »
    766. Chemical poisoning -- Etrimfos
     Etrimfos is a chemical insecticide. The chemical is an organophosphorus compound and 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 na...more »
    767. Chemical poisoning -- Face Powder
     Face powder contains various chemicals that can cause symptoms if ingested although this is rare. Eye and inhalation exposure can also cause symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of ...more »
    768. Chemical poisoning -- Fenchlorphos
     Fenchlorphos is a chemical insecticide. The chemical is an organophosphorus compound and 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 th...more »
    769. Chemical poisoning -- Fenitrothion
     Fenitrothion is a chemical insecticide. The chemical is an organophosphorus compound and 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 th...more »
    770. Chemical poisoning -- Fensulfothion
     Fensulfothion is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on t...more »
    771. Chemical poisoning -- Fenthion
     Fenthion is a chemical pesticide used as an insecticide and avicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amoun...more »
    772. Chemical poisoning -- Fonophos
     Fonophos is a chemical insecticide. The chemical is an organophosphorus compound and 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 na...more »
    773. Chemical poisoning -- Formothion
     Formothion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    774. Chemical poisoning -- Furniture polish
     Furniture polish contains chemicals (hydrocarbons) which can cause serious symptoms if ingested. The ingested chemicals can continue to cause damage to the organs and gastrointestinal lining for weeks after the ingestion and severe cases can result in dea...more »
    775. Chemical poisoning -- Gasoline
     Gasoline is a chemical used as a fuel for combustion engines. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    776. Chemical poisoning -- Glaze
     Glazes are used to put a shiny finish on various surfaces such as pottery. Glazes contain chemicals such as lead and zinc oxide which can cause serious symptoms if sufficient quantities are eaten. The chemicals cause damage to the gastrointestinal lining ...more »
    777. Chemical poisoning -- Guthion (ethyl)
     Guthion (ethyl) is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on ...more »
    778. Chemical poisoning -- Hair Bleach
     Hair bleach contain chemicals which can cause serious symptoms if ingested. The chemicals in the hair bleach can continue to cause gastrointestinal damage for weeks after ingestion. The type and severity of symptoms varies depending on the amount of chemi...more »
    779. Chemical poisoning -- Hair Dye
     Hair dyes contain chemicals which can cause serious symptoms if ingested. The chemicals in the hair dye can continue to cause damage for weeks after ingestion. Some dyes contain lead or mercury which can cause neurological problems even if low level expos...more »
    780. 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 »
    781. Chemical poisoning -- Heptenophos
     Heptenophos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the ...more »
    782. Chemical poisoning -- Hexachlorocyclopentadiene
     Hexachlorocyclopentadiene is a chemical used mainly in the production of chlorinated pesticides, flame retardants, dyes and certain resins. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symp...more »
    783. Chemical poisoning -- Hexane
     Hexane is a chemical used mainly in the manufacture of products such as glue, paint, shoes and furniture. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemica...more »
    784. 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 »
    785. Chemical poisoning -- Incense
     Drinking liquid incense or inhaling incense fumes 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 »
    786. Chemical poisoning -- Iodofenphos
     Iodofenphos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the ...more »
    787. Chemical poisoning -- Isopropyl Alcohol
     Isopropyl Alcohol is a chemical used mainly as a rubbing alcohol and also in perfumes, paint thinners, disinfectants, cleaners and fuels. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies de...more »
    788. Chemical poisoning -- Jet Fuel-4
     Jet Fuel-4 is an aviation turbine fuel used by the US military. 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 »
    789. Chemical poisoning -- Jet Fuel-5
     Jet Fuel-5 is an aviation turbine fuel used by the US military. 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 »
    790. Chemical poisoning -- Jewelry cleaner
     Jewelry cleaner contains various chemicals which can cause serious symptoms if ingested or other types of exposure occurs. The chemicals cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested. Death...more »
    791. Chemical poisoning -- Kerosene
     Kerosene is a chemical used mainly in paints, pesticides, lighter fluid, illuminating fuel and heating. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical ...more »
    792. Chemical poisoning -- Lacquer
     Lacquer contains various chemicals which can cause serious symptoms if ingested or other types of exposure occurs. The chemicals cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested. Death can res...more »
    793. Chemical poisoning -- Lead-containing Paint
     Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemi...more »
    794. Chemical poisoning -- Lighter fluid
     Lighter fluid contains various chemicals which can cause serious symptoms if ingested or other types of exposure occurs. The chemicals cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested. Death c...more »
    795. Chemical poisoning -- Malathion
     Malathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    796. Chemical poisoning -- Mecarbam
     Mecarbam is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amo...more »
    797. Chemical poisoning -- Metal cleaner
     Metal cleaner contains various chemicals which can cause severe symptoms if ingested or other forms of exposure occur. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    798. Chemical poisoning -- Metal polish
     Metal polish contains various chemicals which can cause severe symptoms if ingested or other forms of exposure occur. The chemicals cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested. Death can ...more »
    799. Chemical poisoning -- Methacrifos
     Methacrifos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the ...more »
    800. Chemical poisoning -- Methamidophos
     Methamidophos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on th...more »
    801. Chemical poisoning -- Methane
     Methane is a natural gas that can be used as a fuel and also has industrial uses. 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 natur...more »
    802. Chemical poisoning -- Methanol
     Methanol is a chemical used mainly in fuel, paint removers, solvent, antifreeze and in the production process of many other products. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depend...more »
    803. Chemical poisoning -- Methidathion
     Methidathion is a chemical insecticide. The chemical is an organophosphorus compound and 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 th...more »
    804. Chemical poisoning -- Methiocarb
     Methiocarb is a toxic pesticide. 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 »
    805. Chemical poisoning -- Methomyl
     Methomyl is a carbamate pesticide used mainly as an 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 exposure...more »
    806. Chemical poisoning -- Methyl Bromide
     Methyl Bromide is a chemical used mainly in insecticides, fire extinguishers, wool degreasers and oil extraction. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severit...more »
    807. Chemical poisoning -- Methyl Isocyanate
     Methyl Isocyanate is a chemical used mainly in herbicides and pesticides. 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...more »
    808. Chemical poisoning -- Methyl Tert-Butyl Ether
     Methyl Tert-Butyl Ether is a chemical used mainly in automotive gasoline but is also used as a solvent and chemical reagent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on th...more »
    809. Chemical poisoning -- Methyl parathion
     Methyl parathion is a chemical used mainly as an insecticide for various crops. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be absorbed through the skin. The type and severity of symptoms varies depending on ...more »
    810. Chemical poisoning -- Methylene Chloride
     Methylene Chloride is a chemical used mainly in paint removers, nail polish remover, fumigants and fire extinguishers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amou...more »
    811. Chemical poisoning -- Metiltriazotion
     Metiltriazotion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on ...more »
    812. Chemical poisoning -- Mevinphos
     Mevinphos is a chemical insecticide. The chemical is an organophosphorus compound and 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 n...more »
    813. Chemical poisoning -- Monocrotophos
     Monocrotophos is a chemical insecticide. The chemical is an organophosphorus compound and 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 t...more »
    814. Chemical poisoning -- Monosodium Methanarsenate
     Monosodium Methanarsenate is a chemical used mainly as a herbicide or pesticide. 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...more »
    815. 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 »
    816. Chemical poisoning -- Mould remover
     Mould removers contains various chemicals which can cause serious symptoms if swallowed, inhaled or skin and eye exposure occurs. The chemicals cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested...more »
    817. Chemical poisoning -- N-Methyl-2-Pyrrolidone
     N-Methyl-2-Pyrrolidone is a chemical used mainly in paint strippers, wire coating processes, petroleum industry and in the microelectronics industry. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause va...more »
    818. Chemical poisoning -- Nitrites
     Nitrite is a chemical used in many applications: manufacture of dyes, fabric manufacture, corrosive inhibitors, photography and cyanide antidote kits. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of sympt...more »
    819. Chemical poisoning -- Nitroglycerin
     Nitroglycerin is a chemical used mainly in the manufacture of explosives, dynamite, rocket propellant and smokeless powders. The chemical is readily absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The t...more »
    820. Chemical poisoning -- Nitromethane
     Nitromethane is a chemical used mainly in racing fuel and as an industrial and cleaning solvent. It is also used in the manufacture of various products: explosives, coatings, pesticides, coatings and pharmaceuticals. Ingestion and other exposures to the c...more »
    821. Chemical poisoning -- Oil-based paint
     Oil-based paint contains various chemicals which can cause serious symptoms if sufficient quantities are swallowed or if other types of exposure occurs. These paint contain toxic hydrocarbons as well as various other heavy metals depending on the type of ...more »
    822. Chemical poisoning -- Omethoate
     Omethoate is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    823. Chemical poisoning -- Osmium
     Osmium is a chemical used mainly in alloys to produce very strong metals for such items as fountain pen tips and electrical contacts. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depend...more »
    824. Chemical poisoning -- Oven Cleaners
     Oven cleaners contain toxic chemicals which can cause serious symptoms on exposure. Severe gastrointestinal burns can be caused by ingesting oven cleaner. The burns can lead to perforation which involves a high risk of death. The type and severity of symp...more »
    825. Chemical poisoning -- Oxydeprofos
     Oxydeprofos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the ...more »
    826. Chemical poisoning -- Oxydisulfoton
     Oxydisulfoton is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on th...more »
    827. Chemical poisoning -- Paraphenylenediamine
     Paraphenylenediamine is a chemical used mainly in photographic developing solutions, hair dye, photocopying and printing ink, black rubber, grease, temporary tattoos and car cosmetics. The chemical may be absorbed through the skin. Ingestion and other exp...more »
    828. Chemical poisoning -- Parathion
     Parathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    829. Chemical poisoning -- Parathion Methyl
     Parathion Methyl is a chemical insecticide. The chemical is an organophosphorus compound and 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 an...more »
    830. 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 »
    831. Chemical poisoning -- Phenkapton
     Phenkapton is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    832. Chemical poisoning -- Phenmedipham
     Phenmedipham is used as a herbicide. 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 »
    833. Chemical poisoning -- Phorate
     Phorate is a chemical pesticide used as an insecticide, nematicide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending...more »
    834. Chemical poisoning -- Phosalone
     Phosalone is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    835. Chemical poisoning -- Phosdrin
     Phosdrin is a toxic pesticide. 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 »
    836. Chemical poisoning -- Phosmet
     Phosmet is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amou...more »
    837. Chemical poisoning -- Phosphamidon
     Phosphamidon is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on th...more »
    838. Chemical poisoning -- Phosphine
     Phosphine is a chemical used mainly in pesticides and rodenticides. 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 expos...more »
    839. Chemical poisoning -- Phoxim
     Phoxim is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amoun...more »
    840. Chemical poisoning -- Pirimiphos-methyl
     Pirimiphos-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending o...more »
    841. Chemical poisoning -- Pool Cleaners
     Pool Cleaners contain various chemicals (mainly chlorine) which can cause serious symptoms if sufficient quantities are swallowed. The chemicals are very damaging to the mucosal linings in the body. The type and severity of symptoms varies depending on th...more »
    842. Chemical poisoning -- Primiphos methyl
     Primiphos methyl is a chemical insecticide. The chemical is an organophosphorus compound and 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 an...more »
    843. Chemical poisoning -- Profenofos
     Profenofos is a toxic pesticide. 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 »
    844. Chemical poisoning -- Propoxur
     Propoxur is a carbamate pesticide used mainly as an insecticide and acaricide. 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 o...more »
    845. Chemical poisoning -- Propylene Glycol Dinitrate
     Propylene Glycol Dinitrate is a chemical used mainly as a propellant or occasionally in explosives. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical invo...more »
    846. Chemical poisoning -- Prothidathion
     Prothidathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on th...more »
    847. Chemical poisoning -- Prothoate
     Prothoate is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    848. Chemical poisoning -- Pyrimitate
     Pyrimitate is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    849. Chemical poisoning -- Quinalphos
     Quinalphos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    850. Chemical poisoning -- Quinone
     Quinone is a chemical used mainly in industrial applications for the manufacture of dyes, chemicals, textiles cosmetics and in the tanning processes. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of sympto...more »
    851. Chemical poisoning -- Quintiofos
     Quintiofos is a chemical pesticide used as an acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemica...more »
    852. Chemical poisoning -- Selenium
     Selenium is a chemical element used mainly as an industrial catalyst, in glass and ceramic manufacturing, as an animal feed additive, in photography and in the electronics industry. Ingestion and other exposures to the chemical can cause various symptoms....more »
    853. Chemical poisoning -- Sodium Azide
     Sodium Azide is a chemical used mainly in nematocides, herbicides, explosives detonators and in vehicle air bags. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severit...more »
    854. Chemical poisoning -- Solder
     Solder contains various chemicals and heavy metals which can cause serious symptoms if sufficient quantities are swallowed. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    855. Chemical poisoning -- Sophamide
     Sophamide is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    856. Chemical poisoning -- Sulfotep
     Sulfotep is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amo...more »
    857. Chemical poisoning -- Sulfur Trioxide
     Sulfur Trioxide is a chemical used mainly in the production of sulfuric acid and explosives. Sulfur trioxide is also a significant air pollutant which can mix with moisture in the air to produce "acid rain". Ingestion and other exposures to the chemical c...more »
    858. Chemical poisoning -- Tar remover
     Tar remover contains various chemicals (mainly hydrocarbons) which can cause serious symptoms if sufficient quantities are swallowed. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    859. Chemical poisoning -- Terbufos
     Terbufos is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    860. Chemical poisoning -- Tetrachloroethane
     Tetrachloroethane is a chemical used mainly as a dry cleaning solvent but is also used as a degreaser and in paint strippers and spot removers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms var...more »
    861. Chemical poisoning -- Tetrachloroethylene
     Tetrachloroethylene is a chemical used mainly as a fabric dry cleaner, degreaser, worming treatment for animals and in the manufacture of freons. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms v...more »
    862. Chemical poisoning -- Tetraethyl Pyrophosphate
     Tetraethyl Pyrophosphate is a toxic pesticide. 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 »
    863. Chemical poisoning -- Tetrahydrofuran
     Tetrahydrofuran is a chemical used mainly as a plastic solvent and in the processing of varnish, ink, paint and glue. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amoun...more »
    864. Chemical poisoning -- Tetramethylammonium Hydroxide
     Tetramethylammonium Hydroxide is a chemical used mainly in the production of a variety of electronic components. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of ...more »
    865. Chemical poisoning -- Thallium
     Thallium is an element used for such things as electronic devices, selenium rectifiers, gamma radiation detection apparatus, transmission equipment and infrared radiation detection. It is also used as a catalyst in various manufacturing processes. Ingesti...more »
    866. Chemical poisoning -- Thiometon
     Thiometon is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    867. Chemical poisoning -- Titanium
     Titanium is an element used mainly in alloys. 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 »
    868. Chemical poisoning -- Tolclofos methyl
     Tolclofos methyl is a chemical insecticide. The chemical is an organophosphorus compound and 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 an...more »
    869. Chemical poisoning -- Triazophos
     Triazophos is a chemical pesticide used as an insecticide, nematicide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depend...more »
    870. Chemical poisoning -- Triazotion
     Triazotion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the a...more »
    871. Chemical poisoning -- Trichloroethane
     Trichloroethane is a chemical used mainly as an industrial solvent but also in inks and lubricants. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical invo...more »
    872. Chemical poisoning -- Trichloroethylene
     Trichloroethylene is a chemical used mainly as an industrial solvent and in adhesives, lacquer, fire retardants and house cleaning solvents. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies...more »
    873. Chemical poisoning -- Trifenfos
     Trifenfos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the am...more »
    874. Chemical poisoning -- Vamidothion
     Vamidothion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the ...more »
    875. Chemical poisoning -- Window cleaner
     Window cleaner contains various chemicals (usually alcohols and ammonia) which can cause serious symptoms if sufficient quantities are ingested. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the ex...more »
    876. Chemical poisoning -- acetic acid
     Acetic acid is a chemical used for medicinal purposes such as superficial ear infections, jellyfish stings and bladder irrigation. Acetic acid is a also a component of vinegar which is used as a cooking ingredient. The type and severity of symptoms varies...more »
    877. Chemical-related eczema
     Chemical-related eczema is a form of eczema that results from exposure to a chemical. Eczema is a type of skin inflammation or irritation that manifests as a skin rash. The amount of skin involved may vary considerable from a single small patch to widespr...more »
    878. Chemke-Oliver-Mallek syndrome
     A very rare syndrome characterized mainly by eye and finger and toe abnormalities....more »
    879. Chiari Malformation
     Protrusion of the brain down the spinal column....more »
    880. Chiari-Frommel syndrome
     A rare condition where galactorrhea and amenorrhea continues for an abnormal length of time (generally longer than 6 months) after giving birth....more »
    881. Chickenpox -- Teratogenic Agent
     There is strong evidence to indicate that the development of Chickenpox 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 sta...more »
    882. Chilblain
     Skin inflammation usually in cold weather...more »
    883. Childhood-onset cerebral X-linked adrenoleukodystrophy
     A rare genetic disorder characterized by progressive degeneration of the protective sheath around nerves resulting in increasing difficulty. The childhood cerebral form of the condition is the most severe....more »
    884. Chitayat Meunier Hodgkinson syndrome
     A very rare syndrome characterized by face and finger abnormalities...more »
    885. Chitayat-Moore-Del Bigio syndrome
     A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies....more »
    886. Chloramphenicol-induced Sideroblastic anemia
     Chloramphenicol-induced sideroblastic anemia is a blood disorder caused by taking a drug called chloramphenicol. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red bloo...more »
    887. Chlordiazepoxide -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlordiazepoxide (a sedative or hypnotic drug) 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 ...more »
    888. Chlorpheniramine -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlorpheniramine (an antihistamine medication) 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 ...more »
    889. Chlorpromazine -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlorpromazine (a neuroleptic drug) 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...more »
    890. Chlortetracycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlortetracycline (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 b...more »
    891. Cholestasis -- pigmentary retinopathy -- cleft palate
     A rare syndrome characterized by degeneration of retinal pigments, cleft lip, cleft palate, kidney problems and cholestasis (bile flow obstruction)....more »
    892. Cholestatic jaundice -renal tubular insufficiency
     A very rare syndrome characterized by liver and kidney problems....more »
    893. Chondrodysplasia Punctata, Rhizomelic type
     A rare genetic disorder characterized by slow growth, mental deficiency, characteristic facial features and skeletal deformities particularly of the limbs, spine and pelvis....more »
    894. Chondrodysplasia punctata
     A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The various forms of the disorders have varying severit...more »
    895. Chondrodysplasia punctata with steroid sulfatase deficiency
     A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually...more »
    896. Chondrodysplasia punctata, Sheffield type
     A rare genetic disorder characterized by bone anomalies, failure to thrive and unusual facial features. The bone anomalies consists of abnormal calcification in various parts of the body such as the feet, toes, ankle, tailbone, vertebrae, top of thigh, up...more »
    897. Chondrodysplasia punctata, non rhizomelic type
     A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minima...more »
    898. Chondrodysplasia, Grebe type
     A rare genetic disorder characterized by dwarfism and various limb deformities....more »
    899. Chondrodysplasia, acromesomelic, with genital anomalies
     A very rare condition characterized by severe limb malformations and genital anomalies. The reported case involved related parents....more »
    900. Chondrodysplasia, type Nance-Sweeney
     A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies....more »
    901. Chondrodystrophia calcificans congenita
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    902. Chondrodystrophia punctata, autosomal dominant
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    903. Chondroectodermal dysplasia
     A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities....more »
    904. 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 »
    905. Chorea, remitting with nystagmus and cataracts
     A rare inherited disorder characterized by chorea and involuntary horizontal eye movements that start in infancy and improve or disappear by the age of 10. Cataracts were also present....more »
    906. Choreoathetosis-spasticity, episodic
     A dominantly inherited movement disorder characterized by episodes of involuntary movments. Symptom episodes are often triggered by fatigue, alcohol, physical exertion and stress....more »
    907. Chorioretinitis
     Inflammation of the choroids and retina of the eye. It can be caused by various pathogens such as bacteria, viruses, fungus or protozoa. Other noninfectious diseases such as sarcoidosis can cause abnormal deposits in the eye which can also result in infla...more »
    908. Chorioretinopathy -- microcephaly, autosomal recessive
     A rare, recessively inherited disorder characterized by a small head and a degenerative eye condition....more »
    909. Chorioretinopathy dominant form -- microcephaly
     A rare inherited disorder characterized by a small head, mental retardation and a degenerative eye condition....more »
    910. Choroid Plexus neoplasms
     A rare type of brain tumor that originates in the choroids plexus. The choroids plexus is located inside a space in the brain called the ventricles and produces cerebrospinal fluid. Symptoms are determined by the size, type and exact location of the tumor...more »
    911. Choroidal dystrophy central areolar
     An inherited eye disorder....more »
    912. Choroideremia -- hypopituitarism
     A rare inherited disorder characterized by eye disease and hypopituitarism....more »
    913. Choroiditis
     Inflammation of the part of the eye called the choroid (layer behind the retina). Usually only one eye is affected....more »
    914. Choroido cerebral calcification syndrome infantile form
     A rare syndrome characterized by abnormal calcification in part of the brain and mental retardation....more »
    915. Christian-Demyer-Franken syndrome
     A rare syndrome characterized mainly by mental retardation and skeletal abnormalities....more »
    916. Christianson Fourie syndrome
     A very rare syndrome characterized mainly by hair and nail abnormalities....more »
    917. Chrome contact allergy
     Chrome contact allergy usually refers to an allergic response to chromium salts which are found in a wide range of products such as leather, paint and cement. Sensitization usually occurs in a workplace settings....more »
    918. Chromosome 1, 1p36 deletion syndrome
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact lo...more »
    919. Chromosome 1, Partial Trisomy
     A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of...more »
    920. Chromosome 1, deletion q21 q25
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss....more »
    921. Chromosome 1, duplication 1p21 p32
     A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities....more »
    922. Chromosome 1, monosomy 1p22 p13
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects....more »
    923. 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 »
    924. Chromosome 1, monosomy 1p32
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia....more »
    925. 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 »
    926. 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 »
    927. 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 »
    928. Chromosome 1, proximal deletion
    929. 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 »
    930. Chromosome 1, trisomy 1q42 qter
     A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves....more »
    931. 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 »
    932. Chromosome 10 ring syndrome
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 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 »
    933. Chromosome 10, Monosomy 10p
    934. Chromosome 10, distal trisomy 10q
     A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodacty...more »
    935. Chromosome 10, trisomy 10p
     A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicate...more »
    936. Chromosome 10, trisomy 10pter p13
     A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes....more »
    937. 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 »
    938. Chromosome 10p duplication syndrome
     A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicate...more »
    939. 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 »
    940. 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 »
    941. Chromosome 11, Partial Monosomy 11q
     A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted....more »
    942. Chromosome 11, deletion 11p
     A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    943. Chromosome 12 ring syndrome
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 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 »
    944. Chromosome 12 trisomy
     A rare chromosomal disorder where there are three copies of chromosome 12 rather than the normal two resulting in various abnormalities....more »
    945. 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 »
    946. Chromosome 12, Isochromosome 12p Mosaic
     A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities....more »
    947. 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 »
    948. 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 »
    949. 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 »
    950. 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 »
    951. 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 »
    952. 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 »
    953. Chromosome 13 ring syndrome
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 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 »
    954. Chromosome 13 trisomy syndrome
     A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years....more »
    955. 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 »
    956. 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 »
    957. 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 »
    958. 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 »
    959. 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 »
    960. Chromosome 14 uniparental disomy syndrome
     A rare chromosomal disorder where two homologues are obtained from one parent....more »
    961. 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 »
    962. 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 »
    963. Chromosome 14q, terminal deletion
     A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers....more »
    964. Chromosome 14q, terminal duplication
     A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation....more »
    965. 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 »
    966. 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 »
    967. Chromosome 15 trisomy
     A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15....more »
    968. Chromosome 15, trisomy mosaicism
     A rare chromosomal disorder where duplication of a portion of chromosome 15 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities....more »
    969. Chromosome 15q duplication mosaicism
     A rare chromosomal disorder where duplication of a portion of chromosome 15 in some of the body's cells causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities. The type and severity of symptoms var...more »
    970. 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 »
    971. 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 »
    972. Chromosome 15q triplication syndrome
     A rare chromosomal disorder where there are three copies of a part of the long arm of chromosome 15 resulting in various anomalies....more »
    973. 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 »
    974. 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 »
    975. Chromosome 15q13.3 microdeletion syndrome
     A genetic disorder characterized by the deletion of a small portion of genetic material at the chromosomal location of 15q13.3. A rare syndrome characterized mainly by seizures, mental retardation, and slightly unusual facial features....more »
    976. Chromosome 15q26-qter Deletion Syndrome
     A rare disorder where a portion of genetic material on a particular chromosomal location (15q26-qter) is missing which manifests in a variable range of symptoms....more »
    977. 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 »
    978. 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 »
    979. 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 »
    980. Chromosome 17 ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 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 »
    981. Chromosome 17, deletion 17q23 q24
     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 »
    982. Chromosome 17p, partial deletion
     A rare chromosomal disorder involving deletion 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 lost genetic material....more »
    983. 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 »
    984. 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 »
    985. Chromosome 18 Ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 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 »
    986. Chromosome 18 deletion syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing....more »
    987. 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 »
    988. 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 »
    989. Chromosome 18p minus syndrome
     A rare genetic disorder where a portion of the genetic material from the short arm of chromosome18 is missing. The symptoms or severity may vary somewhat between patients....more »
    990. Chromosome 18q, partial deletion
     A rare chromosomal disorder involving deletion 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 lost genetic material....more »
    991. Chromosome 18q- Syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms is determined by the amount of genetic material that is missing....more »
    992. 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 »
    993. Chromosome 19p duplication syndrome
     A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities....more »
    994. Chromosome 19q13.11 Deletion syndrome
     A rare genetic syndrome involving features such as poor fetal growth, reduced fetal activity, developmental problems and various other physical symptoms....more »
    995. 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 »
    996. Chromosome 1p duplication syndrome
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two....more »
    997. 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 »
    998. 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 »
    999. Chromosome 1q21.1 Deletion Syndrome
     A rare chromosomal disorder caused by the deletion of a portion of chromosome 1 at a specific location (1q21.1). The main symptoms were mental retardation and various physical anomalies. The manifestations in individuals is quite variable....more »
    1000. Chromosome 2 trisomy syndrome
     A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two....more »
    1001. Chromosome 2, monosomy 2pter p24
     A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities....more »
    1002. 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 »
    1003. Chromosome 2, monosomy 2q24
     A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2....more »
    1004. Chromosome 2, monosomy 2q37
     A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion....more »
    1005. Chromosome 2, trisomy 2p
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two....more »
    1006. 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 »
    1007. Chromosome 20p, partial duplication
     A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies....more »
    1008. 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 »
    1009. 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 »
    1010. 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 »
    1011. 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 »
    1012. Chromosome 21q, partial deletion
     A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted....more »
    1013. Chromosome 22 Ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 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 »
    1014. Chromosome 22 monosomy syndrome
     A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities....more »
    1015. 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 »
    1016. 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 »
    1017. 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 »
    1018. 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 »
    1019. Chromosome 22q deletion
     A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients....more »
    1020. Chromosome 22q deletion syndrome
     A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities....more »
    1021. Chromosome 22q13 deletion
     A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities....more »
    1022. Chromosome 22q13.3 deletion syndrome
     A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities....more »
    1023. 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 »
    1024. Chromosome 2p duplication syndrome
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two....more »
    1025. Chromosome 2p16.1-p15 Deletion Syndrome
     A rare genetic disorder characterized by a range of manifestations including mental retardation and skull and facial anomalies....more »
    1026. 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 »
    1027. Chromosome 3, monosomy 3p
     A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly....more »
    1028. Chromosome 3, monosomy 3p14 p11
     A rare chromosomal disorder characterized by facial and limb abnormalities as well as lymphedema....more »
    1029. 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 »
    1030. 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 »
    1031. 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 »
    1032. Chromosome 3/B translocation
     A rare chromosomal disorder involving a translocation of genetic material of chromosome 3....more »
    1033. Chromosome 4 Ring
     A rare chromosomal disorder where the ends of chromosome 4 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 and location of the genetic deletion....more »
    1034. Chromosome 4 ring syndrome
     A rare chromosomal disorder where the ends of chromosome 4 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 and location of the genetic deletion....more »
    1035. 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 »
    1036. Chromosome 4, Monosomy 4q
     A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities....more »
    1037. 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 »
    1038. 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 »
    1039. 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 »
    1040. 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 »
    1041. Chromosome 5, Trisomy 5p
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    1042. Chromosome 5, trisomy 5q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    1043. Chromosome 5p duplication syndrome
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    1044. Chromosome 5p tetrasomy syndrome
     A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies....more »
    1045. Chromosome 5q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    1046. 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 »
    1047. 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 »
    1048. 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 »
    1049. 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 »
    1050. 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 »
    1051. 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 »
    1052. 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 »
    1053. Chromosome 6p partial duplication
     A rare chromosomal disorder involving duplication of part of the short arm (p) of chromosome 6 resulting in various abnormalities depending on the amount and location of the duplicated genetic material....more »
    1054. 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 »
    1055. 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 »
    1056. Chromosome 7 deletion p21-p22.1
     A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities....more »
    1057. Chromosome 7, Partial Deletion of Short Arm
     A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion....more »
    1058. 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 »
    1059. Chromosome 7, partial monosomy 7p
     A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion....more »
    1060. Chromosome 7, trisomy 7p
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    1061. Chromosome 7, trisomy 7q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    1062. Chromosome 7p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    1063. Chromosome 7p duplication syndrome
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    1064. Chromosome 7q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    1065. Chromosome 8 recombinant syndrome
     A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities....more »
    1066. 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 »
    1067. 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 »
    1068. Chromosome 8, monosomy 8p
     A rare chromosomal disorder involving deletion of genetic material from the short arm (p) 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 ...more »
    1069. 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 »
    1070. Chromosome 8, mosaic trisomy
     A very rare chromosomal disorder where there is an extra copy of chromosome 8 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 cells...more »
    1071. 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 »
    1072. Chromosome 8, trisomy 8p
     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 »
    1073. 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 »
    1074. 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 »
    1075. 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 »
    1076. Chromosome 8p mosaic tetrasomy
     A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities....more »
    1077. 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 »
    1078. 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 »
    1079. 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 »
    1080. 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 »
    1081. 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 »
    1082. Chromosome 9, Trisomy 9p (Multiple Variants)
     A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities....more »
    1083. 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 »
    1084. 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 »
    1085. 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 »
    1086. 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 »
    1087. 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 »
    1088. 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 »
    1089. 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 »
    1090. Chromosome 9q deletion syndrome
     A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms....more »
    1091. 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 »
    1092. Chromosome 9q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities....more »
    1093. Chromosome 9q duplication/chromosome 9p deletion syndrome
     A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism)....more »
    1094. Chromosome diploid-triploid mosaicism syndrome
     A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism....more »
    1095. Chromosome partial trisomy 22q11q13
     A rare chromosomal disorder where a portion of chromosome 22 at the location q11-q13 is triplicated instead of resulting in various anomalies....more »
    1096. Chronic 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 »
    1097. Chronic Bronchitis
     Chronic bronchitis is a chronic inflammation of the bronchi (medium-size airways) in the lungs....more »
    1098. Chronic Fatigue Syndrome
     Severe chronic fatigue disorder often following infection....more »
    1099. Chronic Inflammatory Demyelinating Polyneuropathy
     A rare disorder involving swelling of nerve roots and destruction of the protective layer around nerves. Severe symptoms can take up to a year or more to develop....more »
    1100. Chronic Kidney Disease
     Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions....more »
    1101. Chronic Myeloproliferative Disorders
     A group of blood cancers where excessive numbers of blood cells are made by overactive or cancerous bone marrow. The number of excess blood cells tends to grow slowly. Examples of such disorders includes chronic myelogenous leukemia, polycythemia vera and...more »
    1102. Chronic Viliuisk Encephaliti
     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 »
    1103. Chronic 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 »
    1104. Chronic Vilyisk 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 »
    1105. Chronic 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 »
    1106. Chronic anemia
     Chronic anemia refers to a low blood cell count that has occurred over a longer period of time rather than suddenly. It is associated with chronic disease processes e.g. kidney disease....more »
    1107. Chronic interstitial nephritis
    1108. Chronic liver disease
     Any form of chronic liver disease...more »
    1109. Chronic necrotizing vasculitis
     Inflammation and destruction of blood vessel walls which leads to death of associated tissue. Symptoms are determined by the extent and location of the blood vessel inflammation. The inflammation possibly has autoimmune origins. It can occur in condition ...more »
    1110. Chronic orthostatic hypotension
     An excessive drop in blood pressure when the patient stands up causing light-headedness or dizziness....more »
    1111. Chronic renal insufficiency
     Chronic lack of function of the renal system. Kidneys....more »
    1112. Chronic vitamin A toxicity
     Chronic excessive ingestion of vitamin A can cause symptoms....more »
    1113. Chudley syndrome 1
     A rare syndrome characterized by mental retardation, obesity, hypogonadism and a distinctive mouth....more »
    1114. Chuifong tokuwan-induced lead poisoning
     Chuifong tokuwan is a folk remedy used mainly by Asian people to arthritis and other pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use...more »
    1115. Chylomicron retention disease with Marinesco-Sjogren syndrome
     A rare condition characterized by abnormal lipid metabolism, vitamin E deficiency, incoordination and short stature....more »
    1116. Ciclosporin -- Teratogenic Agent
     There is evidence to indicate that exposure to Ciclosporin (an immunosuppressant drug) 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 affe...more »
    1117. Ciguatera poisoning
     Rare toxic food poisoning from eating contaminated fish...more »
    1118. Ciliary dyskinesia-bronchiectasis
     A very rare disorder where the cilia fail to move. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. The lack of ciliary movement can cause a lung disease called bronchiectasis where a b...more »
    1119. Cirrhosis of liver
     Chronic liver disease wherein normal liver parenchyma is replaced by fibrous tissue....more »
    1120. Cirrhosis of the liver
     Scarring of the liver from alcohol or other causes....more »
    1121. Citrullinemia
     Citrullinemia is an inherited urea cycle disorder which causes toxic substances including ammonia to build up in the blood. There are two main subtypes of Citrullinemia (I and II) which are caused by different genetic abnormalities and result in different...more »
    1122. Citrullinemia I, later-onset
     A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. The later-onset form of...more »
    1123. Clark-Baraitser syndrome
     A very rare syndrome characterized mainly by tallness, large head, mental retardation and various facial anomalies....more »
    1124. Classic childhood ALD
     Classic severe form of ALD in boys....more »
    1125. Classic galactosemia
     Rare serious genetic defect in galactose metabolism....more »
    1126. Classical Potter syndrome
     A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In the classical type, both kidneys are absent....more »
    1127. Claviceps purpurea poisoning
     Claviceps purpurea is a type of fungus that can contaminate grains such as rye, wheat, oats and barely. Ingestion of contaminated foods can cause poisoning with the severity of symptoms varying depending on the amount consumed....more »
    1128. Clayton-Smith Donnai syndrome
     A very rare syndrome characterized by scaly skin and facial and finger anomalies....more »
    1129. Cleft lip -- palate -- abnormal thumbs -- microcephaly
     A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate....more »
    1130. Cleft lip -- palate -- ectrodactyly
     A very rare syndrome characterized by a cleft lip and palate and missing fingers and toes....more »
    1131. Cleft lip -- palate -- mental retardation -- corneal opacity
     A very rare syndrome characterized mainly by mental retardation, cleft lip and palate and cloudy corneas....more »
    1132. Cleft lip and palate -- malrotation -- cardiopathy
     A very rare syndrome characterized by heart defects, malrotated intestines and various facial anomalies....more »
    1133. Cleft lip palate -- oligodontia -- syndactyly -- pili torti
     A very rare syndrome characterized by a cleft lip and palate, webbed fingers, missing teeth and hair abnormality (pili torti)....more »
    1134. Cleft lip palate pituitary deficiency
     A very rare disorder characterized by a cleft lip and palate as well as deficient pituitary gland activity which affects hormone levels. The clefts and the pituitary abnormality are considered to be midline defects....more »
    1135. Cleft lower lip cleft lateral canthi chorioretinal
     A rare inherited disorder characterized by deafness at birth and corneal dystrophy which impairs vision. Other variable symptoms may be present....more »
    1136. Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly
     A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations....more »
    1137. Cleft palate -- coloboma -- deafness
     A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness....more »
    1138. Cleft palate -- heart disease -- polydactyly -- absent tibia
     A rare syndrome characterized by a cleft palate, heart disease, extra digits and an absent shin bone....more »
    1139. Cleft upper lip, median -- cutaneous polyps
     A rare birth disorder characterized mainly by a cleft in the upper lip, central nervous system tumors and skin polyps....more »
    1140. Clefting -- ectropion -- conical teeth
     A rare birth syndrome characterized by cleft lip and palate, cone-shaped teeth and everted lower eyelids....more »
    1141. Cleidocranial dysplasia
     A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption....more »
    1142. Cleidorhizomelic syndrome
     A very rare inherited syndrome mainly involving skeletal abnormalities....more »
    1143. Clomiphene -- Teratogenic Agent
     There is evidence to indicate that exposure to Clomiphene 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...more »
    1144. Clomocycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Clomocycline (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 »
    1145. Closed-angle glaucoma
     A severe form of glaucoma needing emergency treatment to avoid blindness....more »
    1146. Clotrimazole -- Teratogenic Agent
     There is evidence to indicate that exposure to Clotrimazole (an antifungal medication) 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 affe...more »
    1147. Cloudy cornea as seen in corneal ulcer
     A cloudy cornea is a loss of transparency of the cornea....more »
    1148. Clouston syndrome
     A rare genetic ectodermal disorder characterized by skin, hair, nail and eye abnormalities....more »
    1149. Cluster headache
     Headache that occurs periodically, with active periods interrupted by spontaneous remissions....more »
    1150. Coats Disease
     A rare condition where a small group of dilated blood vessels (telangiectasia) form in the retina of one eye and can result in retinal detachment. It is believed to be a more severe form of Leber military aneurysm....more »
    1151. Cobalt allergy
     Cobalt chloride allergy usually refers to an allergic response to cobalt which is found in things such as belt buckles, buttons, zips and wet cement. Symptoms usually occur when the article comes into contact with the skin and hence usually results in ski...more »
    1152. Cobra poisoning
     The Cobra is a poisonous snake which can be found in Africa, Asia and other parts of the world. Some cobras are able to spit venom into the victims eye and cause serious symptoms....more »
    1153. Cocaine -- Teratogenic Agent
     There is evidence to indicate that exposure to Cocaine 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 »
    1154. Cocaine-induced hypertension
     Cocaine-induced hypertension is high blood pressure caused by use of cocaine. Patients with an existing history of hypertension may suffer further blood pressure increases while taking cocaine and this can be serious. Severity of symptoms varies amongst p...more »
    1155. Cochleosaccular degeneration of the inner ear and progressive cataracts
     A very rare syndrome characterized by cataracts and progressive damage of certain inner ear structures (cochlea and saccule) which results in progressive deafness and vision problems....more »
    1156. Cockayne syndrome
     A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin....more »
    1157. 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 »
    1158. Cockayne syndrome type 2
     A rare inherited condition characterized by severely impaired neurological development. Type 2 is a congenital form of the disorder and symptoms are apparent from birth....more »
    1159. Codeine -- Teratogenic Agent
     There is evidence to indicate that exposure to Codeine (an opiate drug) 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 lev...more »
    1160. Coenzyme Q cytochrome c reductase deficiency of
     A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficien...more »
    1161. Coffin-Lowry syndrome
     A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers....more »
    1162. Cogan's syndrome
     A disorder primarily involving eye inflammation and hearing impairment and dizziness. Complete deafness usually occurs within a couple of years. The disorder is caused by inflammation of the arteries in the ear. Sometimes arteries in other parts of the bo...more »
    1163. Cohen Syndrome
     A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth....more »
    1164. Cohen-Hayden syndrome
     A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head....more »
    1165. Cold-induced sweating syndrome 2
     A rare disorder characterized mainly by the inability to sweat in hot weather and excessive sweating on exposure to cold weather....more »
    1166. Collagenopathy, type 2 alpha 1
     Collagenopathy, type 2 alpha 1refers to a wide range of conditions that can result from problems with cartilage collagen tissue due to a defect in the COL2A1 gene. Defects in the COL2A1 gene result in defective or reduced collagen production which in turn...more »
    1167. Colles' fracture
    1168. Collins-Dennis-Clarke-Pope Syndrome
     A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects....more »
    1169. Coloboma -- hair abnormality
     A very rare syndrome characterized mainly by hair and eye abnormalities....more »
    1170. Coloboma of choroid and retina
     A hole in the choroids and retina which are two adjacent structures in the eye. The choroids lies between the retina (inner layer of eyeball) and sclera (outer layer of eyeball) and is responsible for providing nutrition and oxygen to the retina. The seve...more »
    1171. Coloboma of eye lens
     A hole in the lens of the eye. The lens is involved in the focusing function of the eye. The defect may be inherited or caused by surgery or injury to the eye. The severity of symptoms is determined by the size of the defect....more »
    1172. Coloboma of iris
     A hole in the iris (colored part of the eye) of the eye. The defect may be inherited or caused by surgery or injury to the eye. The severity of symptoms is determined by the size of the defect....more »
    1173. Coloboma of lens ala nasi
     A congenital anomaly involving the presence of a gap in the eye lens as well as a gap in the flaps of the nostrils - this gap is called a coloboma. The degree of vision impairment depends on the amount of absent eye lens tissue....more »
    1174. Coloboma of macula, type B brachydactyly
     A rare disorder characterized by congenital macular colobomas and finger and toe abnormalities....more »
    1175. Coloboma of optic nerve
     A hole in the eye structure called the optic nerve which is responsible for sending visual information from the eye to the brain. Severity of symptoms is determined by the size of the defect....more »
    1176. Coloboma of optic papilla
     A hole in the eye structure called the optic disc which is located at the head of the optic nerve. Severity of symptoms is determined by the size of the defect....more »
    1177. Coloboma porencephaly hydronephrosis
     A rare syndrome characterized by the presence of a coloboma of the eye (absence of portion of the eye structure), kidney problems and a brain anomaly (porencephaly)....more »
    1178. Coloboma uveal with cleft lip palate and mental retardation
     A very rare syndrome characterized by a cleft lip and palate, mental retardation and a gap or hole in the iris or uvea of the eye (iris or uveal coloboma)....more »
    1179. Coloboma, cleft lip/palate and mental retardation syndrome
     A very rare syndrome characterized by a cleft lip and palate, mental retardation and a gap or hole in the iris or uvea of the eye (iris or uveal coloboma)....more »
    1180. Common Variable Immunodeficiency
     An immunodeficiency disorder involving low blood gamma globulin levels which results in an increased susceptibility to infections. The condition may be inherited or can be caused by certain drugs (levamisole, hydantoin and carbamazepine)....more »
    1181. Common migraine
     Migraine headaches are recurrent headaches that may be unilateral or bilateral. Migraine headaches may occur with or without a prodrome. The aura of a migraine may consist of neurologic symptoms, such as dizziness, tinnitus, scotomas, photophobia, or visu...more »
    1182. Communication conditions
     Medical conditions affecting the communication systems, such as speech....more »
    1183. Communication disorders
     Various disorders limiting the ability to communicate (including developmental communication disorders)...more »
    1184. Complete Trisomy 18 syndrome
     Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or ...more »
    1185. Complex 2 mitochondrial respiratory chain deficiency
     A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome....more »
    1186. Complex partial seizure
     A complex seizure is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. Partial seizures where the patient has altered con...more »
    1187. Complex partial seizure disorder
     Complex partial seizure disorder is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. Partial seizures where the patient ...more »
    1188. Compulsive face picking
     A form of obsessive compulsive disorder where a person compulsively picks at the skin on their own face. Sufferers can feel the pain they inflict on themselves but the feelings of gratification and stress relief prevent them from stopping. The severity an...more »
    1189. Compulsive finger picking
     A form of obsessive compulsive disorder where a person compulsively picks at the skin on their fingers, especially around the nails. Sufferers can feel the pain they inflict on themselves but the feelings of gratification and stress relief prevent them fr...more »
    1190. Conditions associated with nail abnormalities
     Nail abnormalities are problems with the color, shape, texture, or thickness of the fingernails or toenails....more »
    1191. Conditions with similar presentation as Exudative retinal detachment
     It is a condition in which the retina tears away from its underlying tissue. It is a medical emergency....more »
    1192. Conditions with similar presentation as Rhegmatogenous retinal detachment
     It is a condition in which the retina tears away from its underlying tissue. It is a medical emergency....more »
    1193. Conditions with similar presentation as Tractional retinal detachment
     It is a condition in which the retina tears away from its underlying tissue. It is a medical emergency....more »
    1194. Cone dystrophy
     A rare inherited eye disorder characterized by the deterioration of the cone cells in the retina of the eye leading to vision loss....more »
    1195. Cone rod dystrophy
     A rare inherited eye disorder characterized by the deterioration of the cone and rod cells in the retina of the eye leading to vision loss....more »
    1196. Cone rod dystrophy -- amelogenesis imperfecta
     A rare genetic disorder characterized by degeneration of parts of the eye that absorb light (cone rod dystrophy) as well as teeth abnormalities....more »
    1197. Cone shell poisoning
     A number of species of cone shells are capable of envenomating humans. The toxin is a neurotoxin and thus primarily affects the nervous system. Cone shells are found mainly in shallow waters of the Indian and Pacific oceans. The toxicity varies amongst sp...more »
    1198. Cone-Rod Dystrophy 1
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 1 results from a genetic defect on chromosome 18q21.1-q21.3. Initially, visual acuity becomes impaired followed ...more »
    1199. Cone-Rod Dystrophy 10
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 10 results from a genetic defect on chromosome 1q22. Initially, visual acuity becomes impaired followed by loss ...more »
    1200. Cone-Rod Dystrophy 11
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 11 results from a genetic defect on chromosome 19p13.3. Initially, visual acuity becomes impaired followed by lo...more »
    1201. Cone-Rod Dystrophy 12
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 12 results from a genetic defect on chromosome 4p15.3. Initially, visual acuity becomes impaired followed by los...more »
    1202. Cone-Rod Dystrophy 13
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 13 results from a genetic defect on chromosome 14q11. Initially, visual acuity becomes impaired followed by loss...more »
    1203. Cone-Rod Dystrophy 2
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 2 results from a genetic defect on chromosome 19113.3. Initially, visual acuity becomes impaired followed by los...more »
    1204. Cone-Rod Dystrophy 3
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 3 results from a genetic defect on chromosome 1p2-p13. Initially, visual acuity becomes impaired followed by los...more »
    1205. Cone-Rod Dystrophy 5
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 5 results from a genetic defect on chromosome 17p13. Initially, visual acuity becomes impaired followed by loss ...more »
    1206. Cone-Rod Dystrophy 6
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 6 results from a genetic defect on chromosome 17p13.1. Initially, visual acuity becomes impaired followed by los...more »
    1207. Cone-Rod Dystrophy 7
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 7 results from a genetic defect on chromosome 6q12-q13. Initially, visual acuity becomes impaired followed by lo...more »
    1208. Cone-Rod Dystrophy 8
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 8 results from a genetic defect on chromosome 1q12-q24. Initially, visual acuity becomes impaired followed by lo...more »
    1209. Cone-Rod Dystrophy 9
     An inherited progressive eye disease involving deterioration of the cones and rods of the eye. The cone and rod cells make up the retina. Type 9 results from a genetic defect on chromosome 8p11. Initially, visual acuity becomes impaired followed by loss o...more »
    1210. Congenital Disorders of Glycosylation Type Ia
     A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervou...more »
    1211. Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects
     A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects....more »
    1212. Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal abnormalities
     A rare syndrome characterized by overgrowth of fatty tissue, blood vessel malformations, birth marks and skeletal and spinal abnormalities. The condition is a progressive one and there have been less than 20 reported cases....more »
    1213. Congenital Myasthenia Gravis
     Myasthenia gravis is a chronic neuromuscular disease which usually results from autoimmune dysfunction. Congenital myasthenia gravis however results from a genetic defect. Symptoms tend to become worse during the day with activity and improve after rest o...more »
    1214. Congenital Toxoplasmosis
     Fetal infection with toxoplasmosis....more »
    1215. Congenital X-linked retinoschisis
     An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary....more »
    1216. Congenital arteriovenous shunt
     A rare birth defect involving the abnormal passage of blood between arteries and veins. The range and severity of symptoms is determined by the number, size and location of the arteries and veins involved....more »
    1217. Congenital brain dysgenesis due to glutamine synthetase deficiency
     A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death with...more »
    1218. Congenital cardiovascular malformations
     The abnormal development of heart blood vessels. Specific examples of this condition includes hypoplastic left heart syndrome, coarctation and tricuspid atresia....more »
    1219. Congenital cystic eye, multiple ocular and intracranial anomalies
     A rare birth syndrome characterized by various eye and brain abnormalities, The eye abnormality is a developmental disorder where a large cyst forms instead of one eye. The size of the cyst is variable....more »
    1220. 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 »
    1221. Congenital disorder of glycosylation type 1A
     A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervou...more »
    1222. Congenital disorder of glycosylation type 1F
     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 IF is caused by a defect on chromosome 17p13.1-p...more »
    1223. Congenital disorder of glycosylation type 1G
     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 IG is caused by a defect on chromosome 22q13.33 ...more »
    1224. 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 »
    1225. Congenital disorder of glycosylation type 1I
     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 Ii is caused by a defect on chromosome 9q22 and ...more »
    1226. Congenital disorder of glycosylation type 1J
     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 Ij is caused by a defect on chromosome 11q23.3 a...more »
    1227. Congenital disorder of glycosylation type X -- Bombay blood group phenotype
     A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components w...more »
    1228. Congenital hepatic porphyria
     A rare congenital disorder where there is an excess of porphyrin (pigments) in the body. The liver is responsible for making porpyrins....more »
    1229. Congenital ichthyosis, microcephalus, quadriplegia
     A rare birth disorder characterized by scaly skin, small head and paralysis of legs and arms....more »
    1230. Congenital lactase deficiency
     A congenital metabolic disorder where a deficiency of an enzyme called lactase impairs the body's ability to digest milk and other products that contain lactose. Symptoms tend to occur soon after consuming such products. The severity of symptoms depends o...more »
    1231. Congenital short bowel
     A rare birth defect where the bowel is abnormally short. A short bowel can impair the body's ability to absorb enough nutrients and hence result in malabsorption....more »
    1232. Congenital spherocytic anemia
     Congenital Spherocytic anemia is an inherited blood disorder characterized by red blood cells that are shaped like a sphere (spherocytes) rather than the normal doughnut shape. These abnormal cells are broken down prematurely resulting in a shortage of re...more »
    1233. Congenital syphilis
     Syphilis inherited from mother during pregnancy....more »
    1234. Conjugated estrogens -- Teratogenic Agent
     There is evidence to indicate that exposure to Conjugated estrogens 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 o...more »
    1235. Conn Syndrome-induced hypertension
     Conn Syndrome-induced hypertension is high blood pressure associated with Conn Syndrome. It results from excessive production of a hormone called aldosterone by the adrenal glands. The high blood pressure often responds poorly to the usual medications. De...more »
    1236. Connective tissue disorders
     Any condition affecting connective tissues....more »
    1237. Connective tissue dysplasia, Spellacy type
     A very rare syndrome caused by an inherited collagen disorder and characterized by skin abnormalities, skeletal and eye anomalies and joint problems....more »
    1238. Conotruncal heart malformations
     A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved....more »
    1239. Conradi-Huenermann Syndrome
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    1240. Conradi-Hunermann syndrome
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    1241. Conradi-Hünermann Syndrome
     A condition which affects the development of bone and cartilage...more »
    1242. Contact dermatitis
     Skin reaction to an irritant...more »
    1243. Conversion Disorder
     A psychological condition where physical symptoms arise due to emotional dilemmas....more »
    1244. Copper deficiency-induced Sideroblastic anemia
     Copper deficiency-induced sideroblastic anemia is a blood disorder caused insufficient quantities of copper. The body has sufficient iron levels but is unable to utilise it properly in red blood cells due to the lack of copper. The iron becomes abnormally...more »
    1245. Coral snake poisoning
     The Coral snake is a usually brightly colored, poisonous snake found mainly in America and Africa. The toxicity amongst species is variable. They are considered a shy snake and bites are usually the result of deliberate handling. Coral snakes have to bite...more »
    1246. Cordyceps-induced lead poisoning
     Cordyceps is a folk remedy by Chinese people to treat high blood pressure, bleeding problems and diabetes. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects ...more »
    1247. 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 »
    1248. Corn Lily poisoning
     Corn Lily is a poisonous plant native to the Sierra Nevada mountains. It's appearance is similar to the corn grown as a crop. The plant poison primarily affects the nervous system....more »
    1249. Cornea Plana 1
     An inherited eye condition involving abnormal development of the cornea which is unusually thin and flat. Type 2 tends to have a greater impact on vision than type 1....more »
    1250. Cornea Plana 2
     An inherited eye condition involving abnormal development of the cornea which is unusually thin and flat. Type 2 tends to have a greater impact on vision than type 1....more »
    1251. Cornea disorders
     Disorders affecting the cornea of the eye...more »
    1252. Cornea guttata with anterior polar cataract
     A rare eye disorder characterized by cataracts and a corneal abnormality called guttata....more »
    1253. Cornea plana, congenital
     An inherited eye condition involving abnormal development of the cornea which is unusually thin and flat....more »
    1254. Corneal Dystrophies
     A group of various disorders affecting the eye's cornea...more »
    1255. Corneal Dystrophy, Endothelial, X-Linked
     Corneal dystrophy is an eye condition where cloudy material builds up in parts of the cornea and affects visual clarity. The X-linked endothelial form specifically involves the corneal endothelial layer....more »
    1256. Corneal Dystrophy, Lisch Epithelial
     Corneal dystrophy is an eye condition where cloudy material builds up in parts of the cornea and affects visual clarity. The Lisch epithelial form specifically involves opacities that are gray, feathery and band-shaped. The opacities often formed a whorle...more »
    1257. Corneal Dystrophy, Posterior Amorphous
     Corneal dystrophy is an eye condition where cloudy material builds up in parts of the cornea and affects visual clarity. The posterior amorphous form tends to be nonprogressive and may well be present congenitally....more »
    1258. Corneal Dystrophy, Subepithelial Mucinous
     Corneal dystrophy is an eye condition where cloudy material builds up in parts of the cornea and affects visual clarity. The Lisch epithelial form specifically involves opacities the corneal supepithelial mucinous cell layers....more »
    1259. Corneal Graft Rejection
     A corneal graft is the replacement of damaged corneal tissue with a health cornea. Sometimes the body's immune system may reject the new tissue. Figures vary but roughly a tenth of corneal transplant patients have problems with rejection in the short term...more »
    1260. Corneal Transplant Rejection
     A corneal graft is the replacement of damaged corneal tissue with a health cornea. Sometimes the body's immune system may reject the new tissue. Figures vary but roughly a tenth of corneal transplant patients have problems with rejection in the short term...more »
    1261. Corneal abrasion
     Scratch on the cornea...more »
    1262. Corneal anesthesia deafness intellectual deficit
     A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems....more »
    1263. Corneal anesthesia deafness mental retardation
     A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems....more »
    1264. Corneal dystrophy -- ichthyosis -- microcephaly -- mental retardation
     A very rare syndrome characterized by vision loss, scaly skin, small head and mental retardation....more »
    1265. Corneal dystrophy -- perceptive deafness
     A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's....more »
    1266. Corneal dystrophy Avellino type
     A rare inherited eye disorder involving degeneration of the cornea. The degeneration is caused by granular deposits in the cornea as well as deposits of amyloid in a lattice pattern on the cornea. The condition occurs as a result of a genetic defect on ch...more »
    1267. Corneal dystrophy and perceptive deafness
     A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's....more »
    1268. Corneal dystrophy crystalline of Schnyder
     A rare disorder characterized by cloudy corneas believed to be due to abnormal lipid deposits in the corneas. A distinctive sign of the condition is the presence of a light-colored ring around the cornea due to abnormal lipid deposit (arcus juvenilis)....more »
    1269. Corneal dystrophy of Bowman layer, type 1
     A rare inherited eye disorder involving degeneration of the cornea which gives the cornea a characteristic geographic or map-like appearance. The Bowman membrane of the cornea is the main area affected. The condition occurs as a result of a genetic defect...more »
    1270. Corneal dystrophy of Bowman layer, type 2
     A rare inherited eye disorder involving degeneration of the cornea which gives the cornea a characteristic honeycomb appearance. The Bowman membrane of the cornea is the main area affected. The condition occurs as a result of a genetic defect on chromosom...more »
    1271. Corneal dystrophy, Fuchs' endothelial, 1
     A rare inherited eye disorder involving degeneration of the inner (epithelial) layer of the cornea. In type 1, onset occurs early in life (from early childhood) and usually takes about 20 years to affect vision....more »
    1272. Corneal dystrophy, Fuchs' endothelial, 2
     A rare inherited eye disorder involving degeneration of the epithelial layer of the cornea. In type 2, onset occurs later in life (usually 30-40 years of age) and usually takes about 20 years to affect vision....more »
    1273. Corneal dystrophy, epithelial basement membrane
     An eye disease where corneal deterioration causes geographic, map-like lines to form on the surface of the cornea....more »
    1274. Corneal dystrophy, gelatinous drop-like
     A rare inherited eye disorder involving degeneration of the cornea which gives the cornea a characteristic lumpy gelatinous appearance (similar to the surface of a mulberry). A substance called amyloid is deposited in the cornea in a lattice pattern. The ...more »
    1275. Corneal dystrophy, juvenile epithelial of Meesmann
     A rare eye disorder characterized by chilidhood onset of degeneration of the cornea (clear covering of the eye) which impairs vision. Both eyes are affected....more »
    1276. Corneal endothelial dystrophy type 1
     A rare inherited eye disorder involving degeneration of the endothelial (inner) layer of the cornea. Type 2 tends to have an earlier age of onset than type 1....more »
    1277. Corneal endothelial dystrophy type 2
     A rare inherited eye disorder involving degeneration of the endothelial (inner) layer of the cornea. Type 2 tends to have an earlier age of onset than type 1....more »
    1278. Corneal flash burns
     Corneal injury from bright lights...more »
    1279. Corneal hypesthesia deafness intellectual deficit
     A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems....more »
    1280. Corneal ulcer
     Sore on the eye's cornea...more »
    1281. 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 »
    1282. 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 »
    1283. Cornelia de Lange syndrome 2
     A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range a...more »
    1284. Cornelia de Lange syndrome 3
     A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 3 is a very mild form of the disorder and is typified by mildly unusual facial appearance and no skeletal or limb malformations....more »
    1285. Corneodermatoosseous syndrome
     A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems....more »
    1286. Coronal synostosis, syndactyly and jejunal atresia
     A very rare syndrome characterized mainly by webbed toes, blocked small intestine and premature fusion of certain skull bones (coronal)....more »
    1287. Corpus callosum agenesis
     A very rare congenital abnormality where part or all of the fibers that connect the two halves of the brain (corpus callosum) are missing....more »
    1288. Corpus callosum agenesis -- blepharophimosis -- Robin sequence
     A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms....more »
    1289. Corpus callosum agenesis -- polysyndactyly
     A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies....more »
    1290. 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 »
    1291. 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 »
    1292. Corpus callosum, agenesis of, blepharophimosis Robin type
     A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms....more »
    1293. Cortada Koussef Matsumoto syndrome
     A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation....more »
    1294. Cortical blindness -- mental retardation -- polydactyly
     A very rare syndrome characterized by mental retardation, extra fingers and vision loss....more »
    1295. Cortical hyperostosis-syndactyly
     A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones....more »
    1296. Corticosteroid-induced hypertension
     Corticosteroid-induced hypertension is high blood pressure caused by use of corticosteroids. Patients with an existing history of hypertension may suffer further blood pressure increases while taking corticosteroids. Severity of symptoms varies amongst pa...more »
    1297. Costello syndrome
     A rare genetic disorder characterized by papillomas which may become malignant....more »
    1298. Cote-Katsantoni syndrome
     A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation....more »
    1299. Coumarin Derivatives -- Teratogenic Agent
     There is evidence to indicate that exposure to Coumarin Derivatives 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 o...more »
    1300. Cousin Walbrau Cegarra Syndrome
    1301. Cranio osteoarthropathy
     A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing....more »
    1302. Cranio-facio-cardio-skeletal dysplasia
     A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities....more »
    1303. Cranioacrofacial syndrome
     A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies....more »
    1304. Craniodiaphyseal dysplasia
     A very rare bone disorder where excess calcium is deposited mainly in the skull bones which can result in compression of various nerves in the skull and even the brain....more »
    1305. Craniodigital syndrome -- mental retardation
     A very rare syndrome characterized by webbed fingers and toes, mental retardation and skull and facial anomalies....more »
    1306. Cranioectodermal dysplasia
     A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities....more »
    1307. Craniofacial dysostosis -- arthrogryposis -- progeroid appearence
     A very rare syndrome characterized usually caused by fetal exposure to the cytomegalovirus and resulting in features such as short stature, mental retardation, joint movement problems and facial anomalies....more »
    1308. Craniofrontonasal Syndrome
     A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement....more »
    1309. Craniofrontonasal dysplasia
     A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities....more »
    1310. Craniofrontonasal syndrome Teebi type
     A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities....more »
    1311. Craniolenticulosutural dysplasia
     A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark....more »
    1312. Craniometaphyseal dysplasia, autosomal recessive type
     A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. It is a milder form of the disease than the autosomal dominant type....more »
    1313. Craniomicromelic syndrome
     A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth....more »
    1314. Craniostenosis cataract
     A rare condition characterized by the association of cataracts and premature fusion of the skull bones....more »
    1315. Craniostenosis with congenital heart disease mental retardation
     A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features....more »
    1316. Craniosynostosis -- alopecia -- brain defect
     A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect....more »
    1317. Craniosynostosis -- brachysyndactyly of hands and absence of toes
     A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate....more »
    1318. Craniosynostosis -- cataract
     A rare disorder characterized cataracts and the premature fusion of skull bones which gives the head an unusual shape....more »
    1319. Craniosynostosis Fontaine type
     A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia)....more »
    1320. Craniosynostosis Maroteaux Fonfria type
     A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of t...more »
    1321. Craniosynostosis Philadelphia type
     A rare disorder characterized primarily by the premature fusion of several skull bones as well as the incomplete separation of fingers and toes (syndactyly). The condition has been reported in five generations of one family....more »
    1322. Craniosynostosis exostoses nevus epibulbar dermoid
     A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using amin...more »
    1323. Craniosynostosis mental retardation clefting syndrome
     A rare disorder characterized by premature fusion of the skull bones (craniosynostosis), mental retardation a cleft lip and/or palate....more »
    1324. Craniotelencephalic dysplasia
     A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development....more »
    1325. Cree leukoencephalopathy
     A rare form of brain demyelination which usually starts between 3 and 9 months of age and death occurs by 21 months....more »
    1326. Cretinism athyreotic
     A rare form of congenital hypothyroidism that causes mental and physical growth retardation in infants or children. Prompt thyroid hormone therapy is essential in order to prevent progressive neurological and motor deterioration....more »
    1327. Creutzfeldt-Jakob Disease
     A very rare degenerative brain disease that can be inherited, transmitted (eg in surgical transplants using infected tissue) or as a result of genetic mutations. The condition is fatal....more »
    1328. 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 »
    1329. Crisponi syndrome
     A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progress...more »
    1330. Crome syndrome
     A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems....more »
    1331. Cromolyn Sodium -- Teratogenic Agent
     There is evidence to indicate that exposure to Cromolyn Sodium (an asthma preventer) 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 affect...more »
    1332. Crossed polydactyly
     Hand and foot anomalies involving extra digits and webbing. This form is characterized by involvement of the outer part of the hand and the inner part of the feet e.g. extra fingers next to the smallest finger and extra big toes....more »
    1333. Crossed polydactyly type 1
     A birth defect where there is an extra big toe combined with and extra finger on the opposite side to the thumb or and extra thumb and an extra toe on the opposite side to the thumb. Webbing of various fingers and toes is also often present....more »
    1334. Crossed polysyndactyly
     A rare malformation characterized by an extra finger beside the small finger, duplication of the big toe and webbing of various fingers and toes....more »
    1335. Cryptomicrotia -- brachydactyly syndrome
     A very rare syndrome characterized mainly by ear malformations and short fingers and toes....more »
    1336. Cryptorchidism -- arachnodactyly -- mental retardation
     A very rare syndrome characterized mainly by undescended testes, long thin fingers and mental retardation....more »
    1337. Crystal meth addiction
     An uncontrollable desire to use crystal meth on a regular basis. Crystal meth is a powerful stimulant used illegally for its effects. It is highly addictive and known by street names such as ice, speed, glass, crank and chalk. Frequent use leads to an inc...more »
    1338. Culler-Jones syndrome
     A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger....more »
    1339. Cushing syndrome, familial
     A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland....more »
    1340. Cushing's disease
    1341. Cushing's symphalangism
     A rare syndrome characterized by deafness and the fusion of joints in the middle of fingers and toes as well as fusion of hand and foot bones....more »
    1342. 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 »
    1343. Cushing's syndrome-induced hypertension
     Cushing's syndrome-induced hypertension is high blood pressure caused by a condition caused Cushing's syndrome where the adrenal glands produce excessive amounts of cortisol....more »
    1344. Cutaneous diphtheria
     Skin infection from Diphtheria...more »
    1345. Cutis Laxa with Bone Dystrophy
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1346. Cutis Laxa with Growth and Developmental Delay
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1347. Cutis Laxa with or without Congenital Disorder of Glycosylation
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1348. Cutis Laxa, Autosomal Recessive, Type IIA
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1349. Cutis Laxa, Debre Type
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1350. Cutis laxa, recessive type 2
     A very rare syndrome characterized primarily by loose skin and delayed development....more »
    1351. Cutis verticis gyrata mental deficiency
     A rare inherited disorder characterized by mental retardation, seizures and eye and movement problems....more »
    1352. Cyclophosphamide -- Teratogenic Agent
     There is evidence to indicate that exposure to Cyclophosphamide 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 »
    1353. Cycloserine-induced Sideroblastic anemia
     Cycloserine -induced sideroblastic anemia is a blood disorder caused by taking a drug called Cycloserine. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells...more »
    1354. Cyclosporin -- Teratogenic Agent
     There is evidence to indicate that exposure to Cyclosporin (an immunosuppressant drug) 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 affe...more »
    1355. Cyclosporine -- Teratogenic Agent
     There is evidence to indicate that exposure to Cyclosporine (an immunosuppressant drug) 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 aff...more »
    1356. Cyclosporine-induced hypertension
     Cyclosporine-induced hypertension is high blood pressure caused by taking cyclosporine. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms v...more »
    1357. Cystic Fibrosis
     Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure....more »
    1358. Cysticercosis
     An infectious disease caused by the pork tapeworm Taenia solium. If the larvae are ingested then a mild or asymptomatic tapeworm infection occurs. However, ingested eggs pass into the bloodstream where they can then enter various tissues and form the cyst...more »
    1359. Cystoid Macular Dystrophy
     A dominantly inherited eye disease characterized by macular edema resulting from leaking blood capillaries around the macula of the eye....more »
    1360. Cystoid Macular Edema
     Cystoid macular edema is swelling of the macula as a result of injury, disease or eye surgery. The buildup of fluid in the macula causes vision problems which usually resolves as the macular swelling reduces....more »
    1361. Cytomegalovirus -- Teratogenic Agent
     There is strong evidence to indicate that the development of Cytomegalovirus 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 »
    1362. Cytomegalovirus retinitis
     Inflammation of the retina of the eye which can cause blindness. The cytomegalovirus is an easily transmissible viral infection that is common but generally causes no symptoms except in infants and people with weakened immune systems....more »
    1363. Czeizel-Losonci syndrome
     A very rare syndrome characterized by missing fingers, ureter abnormalities, webbed fingers and toes and abnormal spinal development....more »
    1364. DIDMOAD Syndrome, Mitochondrial form
     A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects....more »
    1365. DOC 12 (Neutral Lipid Storage Type)
     A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms ...more »
    1366. Daentl-Townsend-Siegel syndrome
     A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull....more »
    1367. Daentl-Towsend-Siegel syndrome
     A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull....more »
    1368. Dahlberg syndrome
     A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes....more »
    1369. Dana syndrome
     A rare inherited disorder characterized by the gradual degeneration of the white matter of the spinal cord and pernicious anemia. Various neurological symptoms can result....more »
    1370. Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
     A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type)....more »
    1371. Daphne poisoning
     Daphne is a shrub that contains a toxin called mezerein (skin irritant) in the bark as well as a toxin called daphnin. The bark, sap and berries are the most toxic parts of the plant. The plant is native to Europe and Asia but is also found in other parts...more »
    1372. Darier Disease
     A slowly progressing inherited skin disorder characterized by small brownish warty bumps and nail abnormalities. The skin disorder because the skin cells are not held together properly....more »
    1373. Davis-Lafer syndrome
     A very rare syndrome characterized mainly by mental retardation and unusual facial features....more »
    1374. De Barsy Syndrome
     A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities....more »
    1375. De Grouchy Syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    1376. De Lange 1
     A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities....more »
    1377. De Quervains' disease
     Inflammation of the tendons in the thumb which can be very painful. It can be caused by overuse of the thumb or wrist which can occur in activities such as knitting, skiing and lifting heavy objects. The condition primarily occurs in females aged 30 to 50...more »
    1378. Deadly nightshade (Solanum dulcamara) poisoning
     The deadly nightshade is a woody vine and is considered quite toxic. It is found in Europe, Asia, North Africa and North America. There are a number of species of nightshade with variable toxicity. The Solanum dulcamara is considered less toxic with about...more »
    1379. Deafness -- Opticoacoustic nerve atrophy -- dementia
     A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive c...more »
    1380. Deafness -- cataracts -- skeletal anomalies
     A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies....more »
    1381. Deafness -- onychodystrophy -- osteodystrophy -- mental retardation
     A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R)....more »
    1382. Deafness conductive -- ptosis -- skeletal anomalies
     A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities....more »
    1383. Deafness oligodontia syndrome
     A rare disorder characterized by missing teeth and deafness....more »
    1384. Deafness onychodystrophy dominant form
     A rare dominantly inherited disorder characterized by deafness from birth, deformed nails and...more »
    1385. Deafness progressive cataract autosomal dominant
     A rare dominantly inherited disorder characterized by deafness and progressive cataracts. The deafness is caused by degeneration of a part of the inner ear . The hearing loss can start in the 3rd decade of life and cataracts occur before the 5th decade....more »
    1386. Deafness, congenital onychodystrophy, recessive form
     A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R)....more »
    1387. Declomycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Declomycin (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 l...more »
    1388. Declostatin -- Teratogenic Agent
     There is evidence to indicate that exposure to Declostatin (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 »
    1389. Decreased cerebral perfusion
    1390. Decreased lacrimation as in case of Sjogren's syndrome
    1391. Decreased mean cell haemoglobin
    1392. Decreased mean cell haemoglobin concentration
    1393. Decreased mean cell volume
    1394. Decreased serum phosphate
     Decreased serum phosphate (or hypophosphatemia) refers to an electrolyte disturbance involving a lower than normal level of phosphate in the blood. This abnormality may in some cases be associated with increased levels of phosphate in the urine but this d...more »
    1395. Dehydration
     Loss of fluids in the body...more »
    1396. Dejerine-Klumpke syndrome
     A rare condition where a lower spine lesion causes paralysis of the forearm and hand muscles as well as eye problems. The lesion may occur during birth or as a result of infection, tumor or trauma....more »
    1397. Del (2) (p13-p11.2)
     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 »
    1398. Del (2) (q14-q21)
     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 »
    1399. Del (2) (q21-q24)
     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 »
    1400. Del (2) (q22-q24.2)
     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 »
    1401. Del (2) (q22-q31)
     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 »
    1402. Del (2) (q23-q34) mosaicism
     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 »
    1403. Del (2) (q24.3-q31)
     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 »
    1404. 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 »
    1405. Del (2) (q37.3-qter) and dup (8) (q24.3-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 »
    1406. Del (3) (p14.2-p11)
     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 »
    1407. Del (3) (pter-25)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in 22 reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    1408. Del (3) (pter-p25) and dup (17) (q23-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 »
    1409. Del (3) (pter-p26) and (dup (12) (pter-p13.1)
     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 »
    1410. Del (3) (q12-q23)
     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 »
    1411. Del (3) (q13.12-q21.3)
     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 »
    1412. Del(1) (23-q25)
     A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing....more »
    1413. Del(1) (pter-p36.2)
     A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable....more »
    1414. 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 »
    1415. Del(1) (q25.2-q31.2)
     A very rare chromosomal disorder where a portion of the long arm (q25.2-q31.2) of chromosome one is missing....more »
    1416. 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 »
    1417. 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 »
    1418. 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 »
    1419. Deletion 18q
     A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    1420. Deletion 22q13
     A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities....more »
    1421. Deletion 3p
     A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits....more »
    1422. Deletion 5p
     A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on ...more »
    1423. Deletion of the Short Arm of Chromosome 1
     A condition characterized by deletion of the short arm of chromosome 1...more »
    1424. Delta-1-pyrroline 5-carboxylate synthetase deficiency
     A rare syndrome caused by an enzyme deficiency (Delta-1-pyrroline 5-carboxylate synthetase)....more »
    1425. Demeclocycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Demeclocycline (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 t...more »
    1426. Dementia With Lewy Bodies
     Second most frequent cause of dementia in elderly adults....more »
    1427. Dementia, familial Danish
     A rare inherited form of dementia caused by the deposit of abnormal substances in the brain, spinal cord and retina and the degeneration of brain tissue. Deafness and cataracts usually started in the 20's with severe deafness occurring by the age of 45. M...more »
    1428. Demyelinating disorder
     Any condition that is characterised by the destruction of the myelin sheaths of the nerves...more »
    1429. Dennis cohen syndrome
     A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair....more »
    1430. Dennis-Fairhurst-Moore syndrome
     A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair....more »
    1431. Dentinogenesis Imperfecta Type III
     A rare inherited dental disorder where the tops of primary and secondary teeth quickly erode leaving the inside of the tooth exposed....more »
    1432. Dentinogenesis imperfecta type Brandywine
     A rare inherited dental disorder where the tops of primary and secondary teeth quickly erode leaving the inside of the tooth exposed....more »
    1433. Dentinogenesis imperfecta, type I
     A rare inherited condition which occurs in people suffering from osteogenesis imperfecta (brittle bone disease) and is characterized by tooth structure abnormalities....more »
    1434. Dentinogenesis imperfecta, type II
     A rare inherited dental disorder where the tops of primary and secondary teeth quickly erode leaving the inside of the tooth exposed....more »
    1435. Dermatillomania
     A form of obsessive compulsive disorder where a person compulsively picks at their own skin. Sufferers can feel the pain they inflict on themselves but the feelings of gratification and stress relief prevent them from stopping. The severity and extent of ...more »
    1436. Dermato-cardio-skeletal syndrome Borrone type
     A rare progressive syndrome characterized by skin, heart and skeletal abnormalities....more »
    1437. Dermatocardioskeletal syndrome, Boronne type
     A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect....more »
    1438. Dermatoleukodystrophy
     A very rare progressive brain disease associated with thick wrinkled skin. Only two reported cases with both dying within three years of birth....more »
    1439. Dermatomyositis
     A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash....more »
    1440. Dermatoosteolysis, Kirghizian type
     A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms....more »
    1441. Dermatopathia pigmentosa reticularis
     A very rare syndrome characterized mainly by increased skin pigmentation, thickened skin on palms and soles and reduced sweating....more »
    1442. Dermo-odontodysplasia
     A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities....more »
    1443. Desbuquois dysplasia
     A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities....more »
    1444. Desferrioxamine toxicity
     Excessive intake of desferrioxamine (a chelating agent used to treat iron storage disorders) can result in vision problems. Cessation of the drug can result in some improvement in vision...more »
    1445. Deshi Dewa-induced lead poisoning
     Deshi Dewa is a folk remedy by Indian people as a fertility medicine. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is ...more »
    1446. Developmental Lactase Deficiency
     This form of lactase deficiency occurs in premature infants. Lactase enzyme activity usually develops late in pregnancy so a preterm infant will not yet have developed this enzyme function. The greater the degree of prematurity, the greater the reduction ...more »
    1447. Developmental delay -- hypotonia extremities hypertrophy
     A very rare syndrome characterized mainly by poor muscle tone, developmental delay....more »
    1448. Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
     A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbu...more »
    1449. Devergie syndrome
     A chronic skin disorder involving the development of raised spots on the skin that grow and merge into each other to produce large red scaling plaques....more »
    1450. Devic disease
     A rare nerve disorder involving demyelination of spinal cord and eye nerves....more »
    1451. Devil's trumpet poisoning
     The Devil's trumpet is a shrubby plant with purple stems and large white or yellow flowers. The fruit is covered by a spiny shell. The plant originated in china and is often used as an ornamental outdoor plant. The plant contains tropane alkaloids which c...more »
    1452. Dextroamphetamine -- Teratogenic Agent
     There is evidence to indicate that exposure to Dextroamphetamine 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 e...more »
    1453. Dextrocardia-bronchiectasis-sinusitis
     A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus....more »
    1454. DiGeorge syndrome
     22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid...more »
    1455. Diabetes Insipidus
     Rare pituitary disorder often affecting the kidneys....more »
    1456. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 1
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1457. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 10
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1458. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 11
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1459. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 12
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1460. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 13
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1461. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 15
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1462. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 17
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1463. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 18
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1464. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 19
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1465. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 2
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1466. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 20
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1467. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 21
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1468. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 22
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1469. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 23
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1470. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 24
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1471. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 3
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1472. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 4
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1473. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 5
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1474. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 6
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1475. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 7
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1476. Diabetes Mellitus, Insulin-Dependent, Susceptibility to, 8
     Insulin-dependent diabetes is a condition where the body is unable to produce its own insulin in sufficient quantities to regulate blood sugar levels. Researchers have discovered a number of genes which are linked to an increased risk of developing type 1...more »
    1477. Diabetes Mellitus, Noninsulin-Dependent, Susceptibility to, 1
     Noninsulin-dependent diabetes (Type 2 diabetes) is a type of diabetes that doesn't respond to insulin but does tend to respond to dietary measures and diabetes medication. Researchers have discovered a number of genes which are linked to an increased risk...more »
    1478. Diabetes Mellitus, Noninsulin-Dependent, Susceptibility to, 2
     Noninsulin-dependent diabetes (Type 2 diabetes) is a type of diabetes that doesn't respond to insulin but does tend to respond to dietary measures and diabetes medication. Researchers have discovered a number of genes which are linked to an increased risk...more »
    1479. Diabetes Mellitus, Noninsulin-Dependent, Susceptibility to, 3
     Noninsulin-dependent diabetes (Type 2 diabetes) is a type of diabetes that doesn't respond to insulin but does tend to respond to dietary measures and diabetes medication. Researchers have discovered a number of genes which are linked to an increased risk...more »
    1480. Diabetes Mellitus, Noninsulin-Dependent, Susceptibility to, 4
     Noninsulin-dependent diabetes (Type 2 diabetes) is a type of diabetes that doesn't respond to insulin but does tend to respond to dietary measures and diabetes medication. Researchers have discovered a number of genes which are linked to an increased risk...more »
    1481. Diabetes insipidus, diabetes mellitus, optic atrophy
     A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness....more »
    1482. Diabetes insipidus, diabetes mellitus, optic atrophy, deafness, mitochondrial form
     A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects....more »
    1483. Diabetes-like retinal edema
     It occurs when fluid and protein collects under the retinal layer of the eye usually due to any trauma , infection or detachment of the retina...more »
    1484. Diabetic Eye Disease
     Eye disease caused by diabetes...more »
    1485. Diabetic Lens Osmosis
     Eye lens vision changes due to diabetic sugars; usually reversible....more »
    1486. Diabetic Retinopathy
     Diabetic retinopathy is the most common diabetic eye disease and a leading cause of blindness in American adults. It is caused by changes in the blood vessels of the retina....more »
    1487. Diabetic hypoglycemia
     Low blood sugar attack from insulin or diabetes medications...more »
    1488. Diabetic neuropathy
     Nerve damage from diabetes affecting any body part; most commonly feet....more »
    1489. Diaphanospondylodysostosis
     A rare disorder characterized by bone formation anomalies including a lack of bone formation in the spine during the fetal stage as well as kidney problems....more »
    1490. Diaphragmatic defect -- limb deficiency -- skull defect
     A very rare syndrome characterized mainly by a defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity, poor skull calcification and limb abnormalities involving missing or abnormal bones in the arms or legs....more »
    1491. Diaphragmatic hernia -- upper limb defects
     A rare congenital disorder involving a diaphragmatic hernia and arm or hand defects....more »
    1492. Diarrhea
     Loose or watery stool....more »
    1493. Diastrophic dysplasia
     A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities....more »
    1494. Dicoumarol -- Teratogenic Agent
     There is evidence to indicate that exposure to Dicoumarol 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...more »
    1495. Dicumarol -- Teratogenic Agent
     There is evidence to indicate that exposure to Dicumarol 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 ...more »
    1496. Dicyclomine -- Teratogenic Agent
     There is evidence to indicate that exposure to Dicyclomine 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 »
    1497. Die-Smulders-Vles-Fryns syndrome
     A very rare disorder characterized by facial anomalies, long thin fingers and mental retardation....more »
    1498. Diencephalic Syndrome
     A condition characterized by dysfunction of the diencphalon of the brain...more »
    1499. Dienestrol -- Teratogenic Agent
     There is evidence to indicate that exposure to Dienestrol (a synthetic form of Viagra) 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 affe...more »
    1500. Diffuse leiomyomatosis with Alport syndrome
     A very rare syndrome characterized mainly by multiple tumors (in the esophagus, female genitals, trachea and bronchus) and Alport syndrome which involves progressive kidney dysfunction....more »
    1501. Diffuse palmoplantar keratoderma, Bothnian type
     Thickened skin on palms and soles....more »
    1502. Diffuse palmoplantar keratoderma, Norrbotten dominant type
     A rare disorder characterized by thickening of the skin on the palms and soles which is associated with frequent fungal infections....more »
    1503. Diffuse systemic sclerosi
     A rare condition that characterized by skin tightness affecting the trunk and extremities as well as organ involvement. It involves an early period of internal inflammation which distinguishes it from other forms of scleroderma and the organ involvement c...more »
    1504. Digitorenocerebral syndrome
     A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment....more »
    1505. Dilantin -- Teratogenic Agent
     There is strong evidence to indicate that the use of Dilantin (anti-seizure medication) 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 af...more »
    1506. Dilor -- Teratogenic Agent
     There is evidence to indicate that exposure to Dilor (a bronchodilator) 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 lev...more »
    1507. Dimedrol -- Teratogenic Agent
     There is evidence to indicate that exposure to Dimedrol 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 a...more »
    1508. Dimorphic anemia
     Dimorphic refers to anemia that has two different causes acting together e.g. iron deficiency as well as a Vitamin B12 deficiency....more »
    1509. Dincsoy-Salih-Patel syndrome
     A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities....more »
    1510. Dinno-Shearer-Weisskopf syndrome
     A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies....more »
    1511. Diphallus -- rachischisis -- imperforate anus
     A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae....more »
    1512. Diphenadione -- Teratogenic Agent
     There is evidence to indicate that exposure to Diphenadione 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 exposu...more »
    1513. Diphenhydramine -- Teratogenic Agent
     There is evidence to indicate that exposure to Diphenhydramine 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 »
    1514. Diphenoxylate -- Teratogenic Agent
     There is evidence to indicate that exposure to Diphenoxylate (an antidiarrhea drug) 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 affecte...more »
    1515. Diphtheria
     Infectious bacterial respiratory disease...more »
    1516. Discoid eczema
     Discoid eczema is a common form of skin inflammation and irritation characterized by its round or oval shape. The size of the lesions may vary from a few millimetres to centimetres across. The cause is unknown but minor injuries such as insect bites may b...more »
    1517. Diseases associated with senile cataract
     It is a vision impairing disease characterised by gradual , progressive thickening of the lens....more »
    1518. Diseases leading to retinal scarring
     It usually occurs due to chronic retinal diseases and trauma to the eye....more »
    1519. Diseases related to congenital cataract
     Congenital cataracts are usually diagnosed at birth. If a cataract goes undetected in an infant, permanent visual loss may ensue....more »
    1520. Disequilibrium syndrome
     A complication that can occur during or after dialysis and probably caused by abnormal water balance within the brain. Swelling of the brain causes a range of neurological symptoms....more »
    1521. Disorder of Cornification 12 (Neutral Lipid Storage Type)
     A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms ...more »
    1522. Disorder of Cornification 8, Curth-Macklin Type
     A rare inherited skin disorder involving variable degrees of scaling, thickening and hardening of the skin which can occur anywhere on the body. Mild cases can involve on the palms and soles whereas severe cases may involve the whole body....more »
    1523. 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 »
    1524. Distal arthrogryposis syndrome
     A rare genetic disorder characterized by congenital contractures and other physical defects....more »
    1525. 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 »
    1526. Distal hereditary motor neuropathy, type V
     An inherited condition characterized by progressive muscle weakness in the hands and feet due to nerve cell damage in the spinal cord....more »
    1527. Distal lateral subungual onychomycosis
     A fungal infection of the nail which tends to involve start under the nail where it separates from the nail bed. This is the most common form of onychomycosis and the toenails tend to be affected more than the fingernails....more »
    1528. Distal myopathy
     An inherited muscle condition that tends to mainly affect the end portions of arms and legs - hands, feet, forearms and lower legs....more »
    1529. Distal myopathy with vocal cord weakness
     A very rare syndrome characterized mainly by muscle weakness in the end portion of the arms and legs as well as the vocal cord and pharynx....more »
    1530. Distal myopathy, Welander type
     A very slowly progressing muscle fiber degeneration that starts as mild weakness in the small muscles of hands and feet and may eventually spread to neighboring muscles....more »
    1531. 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 »
    1532. Distinctive Craniofacial Features -- Pterygia -- Mental Retardation
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    1533. Dominant zonular cataract
     A dominantly inherited form of cataract where only some of the layers of the eye lens are affected....more »
    1534. Double outlet right ventricle
     A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. The se...more »
    1535. Down Syndrome
     A chromosome syndrome causing physical effects and mental retardation....more »
    1536. Down's syndrome-like hypotonia
     Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength....more »
    1537. Doxepin -- Teratogenic Agent
     There is evidence to indicate that exposure to Doxepin 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 »
    1538. Doxycycline -- Teratogenic Agent
     There is evidence to indicate that exposure to Doxycycline 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 »
    1539. Drug poisoning
     The poisoning of an individual with a noxious substance...more »
    1540. Drug-induced Sideroblastic anemia
     Drug-induced sideroblastic anemia is a blood disorder caused by drugs such as cycloserine, isoniazid and ethanol. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blo...more »
    1541. Drug-induced hypertension
     Drug-induced hypertension is high blood pressure caused by taking certain drugs or medications e.g. corticosteroids, cyclosporine, amphetamines, alcohol and estrogens....more »
    1542. Dry Eye
     Dry eyes or gritty eye feeling....more »
    1543. Dry skin
     Dryness of the skin....more »
    1544. Duane Syndrome
     An inherited eye movement disorder. The eye opening narrows and the eyeball pulls backwards when the eyes look towards the nose....more »
    1545. Ductus arteriosus, patent reversed flow
     A rare birth defect. During the fetal stage, a connecting tube (ductus arteriosus) joins the pulmonary artery and aorta and hence prevents blood from flowing past the fluid filled lungs. After birth, the tube normally closes off so that the blood can be s...more »
    1546. Dunnigan syndrome
     A rare metabolic disorder involving abnormal fat distribution where fat accumulates on areas such as the face, shoulders, neck and genitals but gradually disappears from the limbs, trunk and buttocks....more »
    1547. Dunningan syndrome
     A rare metabolic disorder involving abnormal fat distribution where fat accumulates on areas such as the face, shoulders, neck and genitals but gradually disappears from the limbs, trunk and buttocks....more »
    1548. Duodenal atresia tetralogy of Fallot
     A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through....more »
    1549. 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 »
    1550. Dup (1) (q25-qter) and del (18p)
     A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing....more »
    1551. Dup (1) (q32-qter) and del (7)(q32-qter)
     A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the long arm of chromosome 7 (q32) is deleted. There have only been a couple of reported cases and symptoms may vary somewhat between patients....more »
    1552. Dup (1) (q42-qter) & del (18p)
     A rare chromosomal disorder which manifests as various physical and mental abnormalities. Patients tend to die within the first couple of decades but the condition is poorly defined....more »
    1553. Dup (2) (p25-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 »
    1554. Dup (2) (p25.3-p25.1)
     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 »
    1555. Dup (2) (pter-p23)
     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 »
    1556. Dup (2) (pter-p23) and del (pter-p15)
     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 »
    1557. Dup (2) (q11.2-q13)
     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 »
    1558. Dup (2) (q21-q33
     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 »
    1559. Dup (2) (q32-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 »
    1560. Dup (2) (q33-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 »
    1561. Dup (3) (pter-p21) and del (18) (q21-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 »
    1562. 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 »
    1563. Dup (3) (pter-p24) and del (4) (pter-p16)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in six reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    1564. Dup (3) (pter-p25.1) and del (12) (pter-p13.3)
     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 »
    1565. 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 »
    1566. 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 »
    1567. 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 »
    1568. Dup (3) (q25-q26.2)
     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 »
    1569. Dup (3) (q25-q27)
     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 »
    1570. Dup (3) (q25-q28)
     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 »
    1571. 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 »
    1572. Dup (3) (q26.2-qter) and del (18p)
     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 »
    1573. Dup (5)(q22-q23)
     A rare chromosomal disorder involving duplication of a certain section (q22-q23) of the long arm of chromosome 5 which results in various abnormalities....more »
    1574. Dup (5)(q31-qter)
     A rare chromosomal disorder involving duplication of a certain section (q31-qter) of the long arm of chromosome 5 which results in various abnormalities....more »
    1575. Dup (5)(q32-qter)
     A rare chromosomal disorder involving duplication of a certain section (q32-qter) of the long arm of chromosome 5 which results in various abnormalities....more »
    1576. Dup (5)(q33-qter)
     A rare chromosomal disorder involving duplication of a certain section (q33-qter) of the long arm of chromosome 5 which results in various abnormalities....more »
    1577. Dup(1) (q25-q32)
     A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is duplicated. The type and severity of symptoms may vary....more »
    1578. Duplication 13
     A rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth. The type and severity of symptoms varies depending on the amount and exact location of the genetic materi...more »
    1579. Duplication 18
     A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than ...more »
    1580. Duplication 5p
     A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated....more »
    1581. 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 »
    1582. Duplication of the thumb, unilateral biphalangeal
     A rare malformation where the two bones in one thumb are duplicated....more »
    1583. Dupuytren's contracture
     A condition where the layer of connective tissue under the skin of the palm of the hand thickens and shrinks which can cause the fingers to bend in to the palms. The bent fingers are usually unable to be fully straightened....more »
    1584. Dursun Syndrome
     A rare syndrome characterized mainly by the association of heart anomalies, pulmonary hypertension and leukopenia (reduced number of white blood cells)....more »
    1585. Dwarfism -- deafness -- retinitis pigmentosa
     A very rare disorder characterized by deafness, dwarfism and an eye disorder....more »
    1586. Dwarfism -- stiff joint -- ocular abnormalities
     A very rare form of dwarfism characterized by short stature as well as stiff joints and eye abnormalities....more »
    1587. Dwarfism -- syndesmodysplasic
     A very rare form of dwarfism involving extremely short stature and progressive joint stiffness....more »
    1588. Dwarfism -- tall vertebrae
     A rare form of dwarfism characterized by short stature as well as unusually tall vertebrae and hip deformities....more »
    1589. Dwarfism, short-limb -- absent fibulas -- very short digits
     A very rare disorder characterized by short limbs, missing calf bones and very short fingers and toes due to under developed or missing bones....more »
    1590. Dyck Syndrome
     A very rare condition observe in two brothers. It involves vision, hearing, muscle, sensory and adrenal system problems and an enlarged liver and spleen....more »
    1591. Dyggve-Melchior-Clausen Syndrome
     A rare genetic bone growth disorder characterized by short stature and other skeletal deformities....more »
    1592. Dykes-Markes-Harper syndrome
     A very rare syndrome characterized mainly by dry, scaly skin, enlarged liver and spleen and a incoordination....more »
    1593. Dyphylline -- Teratogenic Agent
     There is evidence to indicate that exposure to Dyphylline (a bronchodilator) 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 »
    1594. Dysbarism
     A condition that occurs when there is a change in the surrounding pressure such as when scuba diving or moving to places of different altitudes. Dysbarism can occur when pressure increases or decreases and includes conditions such as decompression sicknes...more »
    1595. Dysequilibrium syndrome
     A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination....more »
    1596. Dyserythropoietic anemia, congenital type 1
     A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present....more »
    1597. Dysgraphia
     Difficulty with writing....more »
    1598. Dysharmonic skeletal maturation -- muscular fiber disproportion
     A very rare syndrome characterized mainly by abnormal bone development and muscle problems....more »
    1599. Dyshidrotic dermatitis
     A skin disorder (eczema) that affects the soles of the feet, the palms of the hands and the sides of the fingers. There is no known cause but contributing factors include stress, hot or cold weather, pre-existing atopic condition, metal implants, smoking,...more »
    1600. Dyskeratosis Congenita
     A rare genetic disorder characterized by sking pigmentation abnormalities, nail dystrophy and mucous membrane changes....more »
    1601. Dyslexia
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1602. Dyslexia, Susceptibility to, 1
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1603. Dyslexia, Susceptibility to, 2
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1604. Dyslexia, Susceptibility to, 3
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1605. Dyslexia, Susceptibility to, 4
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1606. Dyslexia, Susceptibility to, 5
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1607. Dyslexia, Susceptibility to, 6
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1608. Dyslexia, Susceptibility to, 7
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1609. Dyslexia, Susceptibility to, 8
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1610. Dyslexia, Susceptibility to, 9
     Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to...more »
    1611. Dysosteosclerosis
     A rare inherited condition characterized by bone development abnormalities (excessive hardening of bone and flattened vertebrae), characteristic facial features. Excessive bone growth at the base of the skull can damage the optic nerves and affect vision....more »
    1612. Dysostosis acral with facial and genital abnormalities
     A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Rob...more »
    1613. Dysostosis peripheral
     A rare condition characterized by malformed bones in the hands and feet. The severity of the malformation is variable....more »
    1614. Dystonia-Parkinsonism, Adult-Onset
     A rare condition characterized by the association of parkinsonism and dystonia due to a neurodegenerative disorder which progresses quickly....more »
    1615. Dystonias
     Muscle problems causing movement disorders...more »
    1616. Dystrophia myotonica 1
     A rare genetic disorder characterized by myotonia, muscle atrophy, cataracts and hypogonadism....more »
    1617. Dystrophic epidermolysis bullosa
     A rare inherited skin blistering condition which can vary in severity depending on how it is inherited. Recessively inherited are more severe than dominantly inherited cases and can cause the loss of patches of skin and scarring which can impair limb func...more »
    1618. ECP syndrome
     A rare malformation syndrome characterized by a cleft palate and missing fingers....more »
    1619. EDS V
     A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility....more »
    1620. EDS X
     A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae)....more »
    1621. EEC syndrome without cleft lip/palate
     A rare syndrome characterized mainly by hand, foot deformities as well as hair, skin, nail and tooth abnormalities (ectodermal dysplasia)....more »
    1622. Eales Disease
     A rare eye disorder characterized by sudden vision loss, problems with eye blood vessuls and reoccurring eye blood vessel hemorrhages as well as oozing of clear thick fluid from inside the eyeball. Usually occurs after a stressful situation, trauma or aft...more »
    1623. Ear Psoriasis
     Psoriasis is a chronic skin condition characterized by scaling and inflammation of the skin which can occur on virtually any part of the body. Ear psoriasis refers to psoriasis that develops on the ears. It can be the result of psoriasis spreading from th...more »
    1624. Ebola
     Dangerous virus mostly found in Africa....more »
    1625. Ebstein's anomaly
     A congenital heart defect where the tricuspid valve is deformed. The tricuspid valve in the heart normally has three flaps that control blood flow but in Ebstein's anomaly, one of the flaps remains open instead of closing and allows blood to leak through....more »
    1626. Eclampsia
     Eclampsia is the development of seizures or coma in pregnant women suffering from high blood pressure. Eclampsia is a serious condition which requires urgent medical treatment. Eclampsia may be associated with moderate as well as significant increases in ...more »
    1627. Ecstasy abuse
     Use of the illicit drug called ecstasy...more »
    1628. Ecstasy addiction
     An uncontrollable desire to use ecstasy on a regular basis. Chronic ecstasy use can lead to dependency in as little as two weeks. Ecstasy is a synthetic psychoactive drug often used as a recreational drug. Street names for the drug includes: XTC, Adam, Cl...more »
    1629. Ectodermal dysplasia -- alopecia -- preaxial polydactyly
     A rare syndrome characterized by facial abnormalities, extra toes and sparse or absent hair....more »
    1630. Ectodermal dysplasia -- arthrogryposis -- diabetes mellitus
     A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities....more »
    1631. Ectodermal dysplasia -- blindness
     A rare syndrome characterized mainly be mental retardation, vision loss, short stature and teeth and hair abnormalities....more »
    1632. Ectodermal dysplasia -- ectrodactyly -- macular dystrophy
     A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers....more »
    1633. Ectodermal dysplasia -- mental retardation -- CNS malformation
     A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities....more »
    1634. Ectodermal dysplasia -- mental retardation -- central nervous system malformation
     A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities....more »
    1635. Ectodermal dysplasia -- neurosensory deafness
     A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis....more »
    1636. Ectodermal dysplasia anhidrotic
     A rare inherited condition involving skin, hair, teeth and nail abnormalities. The condition is characterized by the absence of sweat and sebaceous glands, underdeveloped hair and teeth, characteristic face and other physical deformities....more »
    1637. Ectodermal dysplasia mental retardation syndactyly
     A rare syndrome characterized by mental retardation, webbed fingers and hair, nail and teeth abnormalities....more »
    1638. Ectodermal dysplasia trichoodontoonychial type
     A rare syndrome characterized by nail, tooth and hair abnormalities....more »
    1639. Ectodermal dysplasia, Margarita type
     A rare genetic disorder characterized by mental retardation, webbed digits, cleft lip, cleft palate, sparse hair, reduced sweating and teeth abnormalities. Progressive loss of scalp hair usually results in baldness by adulthood....more »
    1640. Ectodermal dysplasia, hypohidrotic, autosomal dominant
     A very rare inherited disorder that affects the development of skin, hair, nails, teeth and sweat glands during the fetal stage....more »
    1641. Ectodermal dysplasia, hypohidrotic, autosomal recessive
     A rare genetic multisystem disorder characterized by hair, teeth, nail and skin abnormalities and absence of certain sweat glands....more »
    1642. Ectodermal dysplasia, hypohidrotic, with immune deficiency
     A rare genetic disorder characterized inability to sweat, immune system problems and hair and teeth abnormalities....more »
    1643. Ectodermal dysplasia/ skin fragility syndrome
     An extremely rare syndrome characterized by fragile skin which blisters and peels, abnormal nails and thickened skin on palms and soles. Skin blistering and peeling starts at birth....more »
    1644. Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 1
     EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ ...more »
    1645. Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3
     EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ ...more »
    1646. Ectrodactyly -- polydactyly
     A rare syndrome characterized primarily by extra digits, missing digits, cleft foot or cleft hand....more »
    1647. Ectrodactyly cleft palate syndrome
     A rare malformation syndrome characterized by a cleft palate and missing fingers....more »
    1648. Ectrodactyly dominant form
     A genetic disorder where fingers or parts of fingers are missing and is often associated with a cleft in the hand. There are many variations of this condition....more »
    1649. Ectrodactyly ectrodermal dysplasia
     A rare genetic disorder characterized by missing digits and hair, teeth and nail abnormalities. The severity of the hand and foot malformations is variable....more »
    1650. Ectrodactyly, recessive form
     A rare recessively inherited disorder where missing fingers give the hands a "lobster-claw" appearance....more »
    1651. Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
     A rare inherited condition characterized by abnormalities of the fingers, toes, hair, glands, eyes anr urinary tract....more »
    1652. Eczema
     Eczema is a chronic skin condition characterized by skin inflammation and irritation. The severity of extent of the condition is highly variable. It may be caused by allergies, irritants or other factors such as stress....more »
    1653. Eczema vaccinatum
     A rare condition where a person who has eczema and is exposed to vaccinia through vaccination. The condition can occur even if the inoculation doesn't occur directly onto eczematous skin. The virus can also be transferred to an eczema sufferer from a rece...more »
    1654. Edentulism
     Without teeth...more »
    1655. Edinburgh malformation syndrome
     A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities....more »
    1656. Edward Syndrome
     A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than ...more »
    1657. Edwards-Gale Syndrome
     A rare hand and foot abnormality where the fingers and toes are unusually short and the first part of the fingers or toes are held in a fixed contracted position....more »
    1658. Ehlers Danlos syndrome type 4, autosomal dominant
     A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4....more »
    1659. Ehlers-Danlos Syndrome, Dysfibronectinemic type
     A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae)....more »
    1660. Ehlers-Danlos syndrome
     A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group....more »
    1661. Ehlers-Danlos syndrome Type I
     A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing....more »
    1662. Ehlers-Danlos syndrome caused by tenascin-X deficiency
     A rare genetic disorder which is similar to Ehlers-Danlos syndrome and involves a deficiency of tenascin-X which affects connective tissue. The main symptoms are loose joints, partially dislocated joints and fragile, hyperextensible skin....more »
    1663. Ehlers-Danlos syndrome type 4
     A rare genetic connective tissue disorder characterized by small joint hypermobility, easy bruising and characteristic facial appearance - a vascular or ecchymotic form of the condition....more »
    1664. Ehlers-Danlos syndrome type II
     A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and poor wound healing - a milder form of Type 1 with hypermobility limited to hands and feet....more »
    1665. Ehlers-Danlos syndrome type III
     A rare genetic connective tissue disorder characterized by lax joints, hyperextensible skin and mild connective tissue fragility - a mild form of the condition....more »
    1666. Ehlers-Danlos syndrome type IV
     A rare genetic connective tissue disorder characterized by small joint hypermobility, easy bruising and characteristic facial appearance - a vascular or ecchymotic form of the condition....more »
    1667. Ehlers-Danlos syndrome type IX
     A rare genetic connective tissue disorder involving a defective copper metabolism and characterized by mildly hyperextensible skin, lax joints, bladder problems and chronic diarrhea....more »
    1668. Ehlers-Danlos syndrome type V
     A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility....more »
    1669. Ehlers-Danlos syndrome type VI
     A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities....more »
    1670. Ehlers-Danlos syndrome type VII
     A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and joint dislocations....more »
    1671. Ehlers-Danlos syndrome type X
     A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae)....more »
    1672. Ehlers-Danlos syndrome with periventricular heterotopia
     The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome....more »
    1673. Ehlers-Danlos syndrome, 6B
     A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1....more »
    1674. Ehlers-Danlos syndrome, Beasley Cohen type
     A rare condition where mental retardation, deafness and cataracts are associated with a connective tissue disorder called Ehlers-Danlos syndrome....more »
    1675. Ehlers-Danlos syndrome, arthrochalasic type
     A rare genetic connective tissue disorder characterized by hyperextensible and fragile skin and hypermobile joints which leads to dislocations, osteoarthritis and fractures - previously known as EDS types 7A and 7B....more »
    1676. Ehlers-Danlos syndrome, cardiac valvular form
     A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility....more »
    1677. Ehlers-Danlos syndrome, classic type
     A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II....more »
    1678. Ehlers-Danlos syndrome, dermatosparaxis type
     A rare genetic connective tissue disorder characterized by skin hyperextensibility hypermobile joints and fragile skin which loses its elasticity - previously known as EDS type 7C....more »
    1679. Ehlers-Danlos syndrome, dermatospraxis type
     A rare genetic connective tissue disorder characterized by skin hyperextensibility hypermobile joints and fragile skin which loses its elasticity - previously known as EDS type 7C....more »
    1680. Ehlers-Danlos syndrome, hypermobile type
     A rare genetic connective tissue disorder characterized by generalized joint hypermobility and smooth hyperextensible skin as well as joint pain and discolations....more »
    1681. Ehlers-Danlos syndrome, hypermobility type
     A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and - previously known as EDS type 3....more »
    1682. Ehlers-Danlos syndrome, kyphoscoliosis type
     A rare genetic connective tissue disorder caused by deficiency of the lysyl hydroxylase enzyme and is characterized by progressive scoliosis and muscle weakness and fragile sclera - previously known as EDS type 6....more »
    1683. Ehlers-Danlos syndrome, tenascin-X deficiency
     A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility....more »
    1684. Ehlers-Danlos syndrome, type 10
     A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae)....more »
    1685. Ehlers-Danlos syndrome, vascular type
     A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4....more »
    1686. Ehlers-Danlos, syndrome, periodontitis type
     A rare genetic connective tissue disorder characterized by lax joints, hyperextensible skin and mild connective tissue fragility - a mild form of the condition....more »
    1687. Eisenmenger Syndrome
     Increased lung blood pressure that can result from conditions such as a hole in the wall between the two heart chambers....more »
    1688. Elapid poisoning
     Sea snakes, Kraits and cobras are from the Elapid group of snakes. The toxicity of the venom varies depending on the species. The venom is usually toxic to the nerves or heart. Early symptoms such as drowsiness can occur within 30 minutes with more severe...more »
    1689. Electrical burns
     Burns caused when an electric current pass through the body or part of it. The symptoms and severity of the burn depends on the strength of the electrical current, the duration of the exposure and the part of the body involved. Prompt treatment in more se...more »
    1690. Elejalde syndrome
     A rare congenital syndrome characterized excessive fetal growth, skull abnormalities, extra fingers or toes and other abnormalities....more »
    1691. Ellis-van Creveld syndrome
    1692. 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 »
    1693. Emery-Nelson syndrome
     A rare condition characterized by a flat face and hand and foot abnormalities....more »
    1694. Emphysema
     Emphysema is a type of chronic obstructive pulmonary disease (COPD). It is defined as an abnormal, permanent enlargement of the air spaces distal to the terminal bronchioles accompanied by destruction of their walls and without obvious fibrosis....more »
    1695. Empty Sella Syndrome
     Congenital defect of the brain....more »
    1696. Empty sella syndrome -- acquired
     A disorder where the bony structure surrounding the pituitary gland (sella) appears to be empty except for the cerebrospinal fluid - often results from radiation, surgery or injury which causes the pituitary gland to shrink....more »
    1697. Empty sella syndrome -- primary
     A rare inherited disorder where the bony structure surrounding the pituitary gland (sella) appears to be empty as the pituitary gland is flattened due to a defect. It is instead filled with cerebrospinal fluid....more »
    1698. Enalapril -- Teratogenic Agent
     There is evidence to indicate that exposure to Enalapril (an ACE inhibitor) 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 »
    1699. Encephalitis, California serogroup viral
     A mosquito borne viral illness...more »
    1700. Encephalocele anterior
     Protrusion of a portion of the brain tissue through a skull defect in the anterior portion of the skull. The severity of symptoms depends on the exact location and size of the deformity....more »
    1701. Encephalocele frontal
     Protrusion of a portion of the frontal brain tissue through a skull defect. The severity of symptoms depends on the exact location and size of the deformity....more »
    1702. Encephaloceles
     Improper protrusions of parts of the meninges and brain....more »
    1703. Encephalomyelitis
     Inflammation of the brain and spinal cord....more »
    1704. Encephalopathy -- intracranial calcification -- growth hormone deficiency -- microcephaly -- retinal degeneration
     A rare condition characterized mainly by brain disease, poor growth due to a deficiency of growth hormone, a small head and vision impairment....more »
    1705. Encephalopathy progressive -- optic atrophy
     A rare birth disorder characterized by progressive brain disease, facial anomalies and eye problems....more »
    1706. Endocrine-Cerebroosteodysplasia
     A rare condition observed in six members from two families. The condition is severe with all affected individuals dying before, during or soon after birth. A number of the pregnancies were voluntarily terminated due to the detected malformations. Endocrin...more »
    1707. Endodermal sinus tumor
     A form of malignant germ cell tumor that occurs mainly in young children. They can occur in the testis, ovaries, uterus, abdomen, thorax, tailbone region, vagina, liver, retroperitoneum and pineal ventricle of the brain. Symptoms will vary depending on th...more »
    1708. Eng Strom syndrome
     A rare syndrome characterized by short stature and episodes of locked finger joints....more »
    1709. Engelhard-Yatziv syndrome
     A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities....more »
    1710. English Laurel poisoning
     The English Laurel is an evergreen shrub with elongated spikes of flowers and white fruit with a black stone. The seeds, twigs and wilted leaves of the plant contain chemicals (cyanogenic glycoside, amygdalin) which are very poisonous and can cause death ...more »
    1711. Environmental allergen related eczema
     Environmental allergen related eczema is a form of eczema that results from exposure to an environmental allergen such as moulds, pollens or dust mite. Environmental allergens are more likely to cause allergic conditions such as hay fever and asthma but c...more »
    1712. Eosinophilic fasciitis
     A rare disorder where the skin on the limbs become painfully inflamed and looses it's elasticity....more »
    1713. Ependymoma
     A tumor that occurs in the central nervous system (brain and spinal cord). Symptoms vary according to the aggressiveness, size and exact location of the tumor....more »
    1714. Epidermalolysis bullosa
     A group of skin disorders characterized by fragile skin which can blister upon little or no trauma to the skin. There are a number of different subtypes with some being inherited and some acquired. The hands and feet are often the main parts of the body a...more »
    1715. Epidermoid carcinoma
     A non-small-cell type of lung cancer. The cancer develops from cells that line the inside of the lungs....more »
    1716. Epidermolysa bullosa simplex and limb girdle muscular dystrophy
     A rare syndrome involving fragile skin that blisters easily as well as muscle weakness and wasting in the head and limbs. The severity of the blistering and muscle weakness is variable with some sufferers dying during infancy....more »
    1717. Epidermolysis Bullosa Dystrophica, Pretibial
     A rare inherited skin blistering disorder characterized by the development of blisters on the skin and mucous membranes even with minor skin trauma. The skin condition also involves itching which usually doesn't respond to conventional therapies. The blis...more »
    1718. Epidermolysis Bullosa Pruriginosa
     A rare inherited skin blistering disorder characterized by the development of skin blistering and scarring mainly on the shins. The condition is caused by a defect in the collagen gene. The skin sensitivity may improve with age....more »
    1719. Epidermolysis bullosa acquisita
     An acquired autoimmune skin condition characterized by blisters which cause scarring on the skin of joints and sometimes the skull....more »
    1720. Epidermolysis bullosa dystrophica, Bart type
     A rare inherited skin blistering disorder characterized by the development of blisters on the skin and mucous membranes as well as areas of missing skin at birth. Nail abnormalities are also present....more »
    1721. Epidermolysis bullosa dystrophica, dominant type
     A relatively mild form of the skin disease characterized by fragile, blistered skin....more »
    1722. Epidermolysis bullosa intraepidermic
     A rare inherited skin disorder characterized by separation of the layers within the skin which results in fragile, blistered skin. The blisters usually heal without scarring and the skin that is most often placed under trauma (feet and hands) is the most ...more »
    1723. Epidermolysis bullosa simplex with mottled pigmentation
     A variant of a skin blistering disease which also involved a skin pigmentation anomaly....more »
    1724. Epidermolysis bullosa with pyloric atresia
     A rare inherited blistering skin disorder which also involves a defect where the digestive system is closed off in the pyloric area. Death generally occurs even if the defect is corrected....more »
    1725. Epidermolysis bullosa, acquired
    1726. Epidermolysis bullosa, dermolytic
     A rare genetic syndrome characterized by fragile skin which blisters easily due to defective skin collagen. The mucosal lining of the mouth and even intestines may be effected in severe cases....more »
    1727. Epidermolysis bullosa, generalized atrophic benign
     A rare inherited skin disorder characterized by fragile skin which blisters easily and often results in scars after healing. The condition is generally quite mild compared to other skin disorders involving fragile blistering skin....more »
    1728. Epidermolysis bullosa, junctional
     A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters and can result in fatal complications....more »
    1729. Epidermolysis bullosa, junctional, with pyloric atrophy
     A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters as well as obstruction of the passage from the stomach to the intestine (pylorus). Death usually occurs within weeks of birth....more »
    1730. Epidermolysis bullosa, late-onset, localized junctional, with mental retardation
     A rare genetic disorder characterized by mental retardation, hair and nail disorders, absence of teeth and areas fragile skin that blisters easily....more »
    1731. Epidermolysis bullosa, lethal acantholytic
     A very rare inherited disorder characterized by extremely fragile skin and mucous membranes which blisters and peels. The majority of the skin blisters and peels within a week of birth. Severe fluid loss and death follows soon after....more »
    1732. Epidermolysis bullosa, simplex
     A group of skin disorders characterized by fragile skin which can blister upon little or no trauma to the skin. There are a number of different subtypes with some being inherited and some acquired. The hands and feet are often the main parts of the body a...more »
    1733. Epidermolytic Hyperkeratosis
     A rare inherited skin disorder characterized by blistering, redness, scaling and ultimately thickening of the skin that occurs from birth. The severity of the condition is variable....more »
    1734. Epidermolytic epidermolysis bullosa
     A group of skin disorders characterized by fragile skin which can blister upon little or no trauma to the skin. There are a number of different subtypes with some being inherited and some acquired. The hands and feet are often the main parts of the body a...more »
    1735. Epidermolytic palmoplantar keratoderma Vorner type
     A rare skin disorder characterized by thickening of the skin on the palms and soles as well as degeneration of some layers of the skin tissue....more »
    1736. Epilepsy, benign occipital
     A form of epilepsy that occurs in children and originates from the part of the brain called the occipital region (back of the head). Visual disturbances often precede the seizures....more »
    1737. Epilepsy, familial temporal lobe, 4
     A rare inherited epilepsy disorder which also involves migraines and visual aura....more »
    1738. Epilepsy, partial, familial
     A form of epilepsy that tends to run in families and is linked to damage or abnormalities in a specific part of the brain. Often sensory disturbances accompany or precede the seizures....more »
    1739. Epileptic encephalopathy, early infantile, 2
     A genetic form of epilepsy which is severe and starts during infancy. The condition is considered an atypical form of Rett syndrome due to the development of stereotypical hand movements and repetitive behaviors. This form of the condition is caused by a ...more »
    1740. Epimetaphyseal dysplasia cataract
     A rare condition characterized mainly by the association of cataracts with bone abnormalities....more »
    1741. Epimetaphyseal skeletal dysplasia
     A rare syndrome characterized mainly by abnormal bone development....more »
    1742. Epiphyseal dysplasia -- hearing loss -- dysmorphism
     A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....more »
    1743. Epiphyseal dysplasia dysmorphism camptodactyly
     A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....more »
    1744. Epiphyseal dysplasia, multiple
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. There are 6 different subtypes of the disease, with each caused by a mutation in a different gene....more »
    1745. Epiphyseal dysplasia, multiple, 1
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the gene for COMP which is a cartilage protein....more »
    1746. Epiphyseal dysplasia, multiple, 2
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the COL9A2 gene....more »
    1747. Episodic ataxia, type 2
     A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus (rapid, involuntary eye movements). Stress, exertion, alcohol and coffee may trigger the episodes which can last from hours to days. Type 2 is caused...more »
    1748. Episodic ataxia, type 3
     A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress and exertion may trigger the episodes. Type 3 is caused by a defect on chromosome 1q42....more »
    1749. Episodic ataxia, type 7
     A rare genetic disorder characterized by episodes of incoordination and unsteadiness which lasted from hours to days. Episodes occurred from monthly to yearly and the frequency tends to lessen with age. Stress and exertion may trigger the episodes. Type 7...more »
    1750. Epitheliopathy, acute posterior multifocal placoid
     A rare eye disorder where vision is temporarily impaired with no apparent cause....more »
    1751. Ergotamine -- Teratogenic Agent
     There is evidence to indicate that exposure to Ergotamine 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...more »
    1752. Erythema ab igne
    1753. Erythroderma
     Condition with thickening and flaking skin...more »
    1754. Erythrodermic eczema
     Erythrodermic eczema is a severe condition that results from worsening eczema....more »
    1755. Erythromelalgia
     A rare disorder characterized by periods of burning pain, redness and warmth in the feet and hands....more »
    1756. 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 »
    1757. Erythropoietin-induced hypertension
     Erythropoietin-induced hypertension is high blood pressure caused by taking erythropoietin which is sometimes used to treat anemia in conditions such as chornic kidney failure. Patients with an existing history of hypertension may suffer further blood pre...more »
    1758. Escobar syndrome, type B
     A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine....more »
    1759. Esotropia
     An eye disorder where one or both of the eyes are turned inwards....more »
    1760. Essential iris atrophy
     A very rare progressive eye disorder involving pupil abnormalities and degeneration of the iris. It is a slowly developing disorder that usually only affects one eye....more »
    1761. Esthesioneuroblastoma
     A rare type of tumor that occurs in the upper nasal cavity. The tumor may obstruct one or both nostrils....more »
    1762. Ethanol-induced Sideroblastic anemia
     Ethanol-induced sideroblastic anemia is a blood disorder caused by consuming ethanol. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which make them una...more »
    1763. Ethylenediamine dihydrochloride mix allergy
     A Ethylenediamine dihydrochloride allergy refers to an adverse reaction by the body's immune system to Ethylenediamine dihydrochloride which is often found in medicinal preparations such as skin creams and nose drops. It also has various industrial uses. ...more »
    1764. Ethylmalonic aciduria
     A very rare inherited disorder characterized by neurological and vascular symptoms caused by an excessive buildup of ethylmalonic aciduria....more »
    1765. Etretinate -- Teratogenic Agent
     There is evidence to indicate that exposure to Etretinate (a drug used to treat psoriasis) 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 ...more »
    1766. Euhidrotic ectodermal dysplasia
     A rare syndrome characterized mainly by tooth, hair and facial abnormalities....more »
    1767. Excessive dieting
     Excessive limitation of food intake can lead to problems and effects such as dizziness, depression, intestinal problems, edema and impaired growth....more »
    1768. Exercise induced anaphylaxis
     A rare form of hives triggered by exercise. The condition can progress to shock and even death. Some sufferers are prone to this condition if they eat certain foods (especially wheat) before exercising....more »
    1769. Extragonadal Germ Cell Tumor
     A rare form of cancer that originates in germ cells that are found in areas such as the brain, chest, tailbone or abdomen rather than the ovaries or testicles. Germ cells are the precursors for male sperm and female eggs. The symptoms are determined by th...more »
    1770. Extrasystoles -- short stature -- hyperpigmentation -- microcephaly
     A rare syndrome characterized mainly by shortness, increased skin pigmentation, small head and...more »
    1771. Exudative retinopathy familial, X-linked, recessive
     A rare progressive eye disorder which is inherited in a recessive X-linked manner. The development of the retinal blood vessels is incomplete resulting in parts of the retina having no blood vessels which is necessary for it's function. The disorder is ca...more »
    1772. Exudative retinopathy familial, autosomal dominant
     A rare progressive eye disorder which is inherited in a dominant manner. The development of the retinal blood vessels is incomplete resulting in parts of the retina having no blood vessels which is necessary for it's function. The disorder is caused by a ...more »
    1773. Exudative retinopathy familial, autosomal recessive
     A rare progressive eye disorder which is inherited in a recessive manner. The development of the retinal blood vessels is incomplete resulting in parts of the retina having no blood vessels which is necessary for it's function....more »
    1774. Exudative retinopathy, familial
     A rare progressive eye disorder which is inherited in a familial manner. The development of the retinal blood vessels is incomplete resulting in parts of the retina having no blood vessels which is necessary for it's function....more »
    1775. Exudative vitreoretinopathy 3
     A rare progressive eye disorder caused by a genetic defect on chromosome 11p13-p12. The development of the retinal blood vessels is incomplete resulting in parts of the retina having no blood vessels which is necessary for it's function....more »
    1776. Exudative vitreoretinopathy 4
     A rare progressive eye disorder caused by a genetic defect on chromosome 11q13.4. It can be inherited in a dominant or recessive manner. The development of the retinal blood vessels is incomplete resulting in parts of the retina having no blood vessels wh...more »
    1777. Eye Herpes
     Eye infection caused by herpes simplex virus; may result in corneal ulcer...more »
    1778. Eye allergy
     Allergic of the eye is usually characterized by inflammation of the conjunctiva associated with itching, redness and watering of the eyes....more »
    1779. Eye and vision conditions
     Medical conditions affecting the eyes or the vision systems....more »
    1780. Eye conditions
     Any condition that affects the eyes...more »
    1781. Eye defects -- arachnodactyly -- cardiopathy
     A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease....more »
    1782. Eye melanoma
     Melanoma develops in the cells that produce melanin - the pigment that gives the skin its color. the eyes also have melanin-producing cells and can develop melanoma....more »
    1783. Eye muscle strain
     An eye disorder caused by strain on the eye muscles. The eyes become tired when being used intensely such as occurs when working on the computer, driving or reading, long periods of time straining to see in dim light or extremely bright lights. Eye refrac...more »
    1784. Eyebrows duplication of, with stretchable skin and syndactyly
     A rare syndrome characterized mainly by duplication of some of the eyebrow, increased skin elasticity and webbed fingers and toes....more »
    1785. Eyebrows duplication syndactyly
     A rare syndrome characterized mainly by duplication of some of the eyebrow, webbed fingers and toes and occasionally increased skin elasticity and other variable symptoms....more »
    1786. FACES syndrome
     A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities....more »
    1787. FG Syndrome
     A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead....more »
    1788. FG syndrome 1
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31....more »
    1789. FG syndrome 2
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28....more »
    1790. FG syndrome 3
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3....more »
    1791. FG syndrome 4
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3....more »
    1792. FG syndrome 5
     A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3....more »
    1793. FLOTCH syndrome
     A very rare syndrome characterized mainly by kidney stones, completely white nails and cysts that form in oil producing areas of skin....more »
    1794. Fabry's Disease
     Genetic fat storage disorder...more »
    1795. Facial Psoriasis
     Psoriasis is a chronic skin condition characterized by scaling and inflammation of the skin which can occur on virtually any part of the body. Facial psoriasis refers to psoriasis that develops on the skin of the face. This location is particularly proble...more »
    1796. Facial fracture
     Fracture of a bone in the face...more »
    1797. Facio-auriculo-radial dysplasia
     A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm....more »
    1798. Facio-cardio-musculo-skeletal syndrome
     A rare syndrome characterized by facial, heart, muscle and skeletal abnormalities....more »
    1799. Faciocardiomelic Syndrome
     A syndrome reported in a family and characterized by various anomalies including mental retardation and bone abnoramlities....more »
    1800. Faciocardiomelic dysplasia, lethal
     A very rare lethal syndrome characterized by facial, heart and skeletal abnormalities....more »
    1801. Faciodigitogenital syndrome, recessive form
     A rare syndrome characterized by facial, digital and genital abnormalities....more »
    1802. Faciooculoacousticorenal syndrome
     A very rare syndrome characterized by facial, eye, ear and kidney abnormalities....more »
    1803. Facioplegic migraine
     Unilateral facial weakness occurring during a migraine....more »
    1804. Facioscapulohumeral Muscular Dystrophy -- Sensorineural Hearing Loss
     A rare condition characterized by hearing impairment and muscle wasting in the facial and shoulder muscles. The rate of progression and severity of the condition is quite variable....more »
    1805. Facioskeletalgenital syndrome, Rippberger type
     A rare syndrome characterized by facial, skeletal and genital abnormalities....more »
    1806. Faciothoracogenital syndrome
     A rare syndrome characterized by facial, chest and genital abnormalities....more »
    1807. Fahr's Syndrome
     A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function....more »
    1808. Fairbank disease
     A rare inherited disorder that affects the secondary growth centers of bones usually in the hips, knees and ankles and results in mild dwarfism....more »
    1809. Fallot syndrome
     A congenital heart disorder consisting of four heart defects - hole between the ventricles (ventricular septal defect), obstruction from right ventricles to the lungs (subpulmonary stenosis), overriding aorta and thickened right ventricle muscle....more »
    1810. Falls
     When a person losses balance and falls over...more »
    1811. Familial Granulomatosis, Blau type
     A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions....more »
    1812. Familial Lactase Deficiency
     A congenital metabolic disorder where normal amounts of lactase are produced but the lactase is defective and unable to digest milk and other products that contain lactose. Symptoms tend to occur soon after consuming such products....more »
    1813. Familial Treacher Collins syndrome
     Treacher Collins syndrome is a rare inherited disorder characterized by down-slanting eye slits, malformed external ear, abnormal lower eyelid and underdeveloped cheeks. In the familial form, the condition tends to occur in a number of people within a fam...more »
    1814. Familial emphysema
     A rare genetic form of emphysema caused by a deficiency of alpha-1 antitrypsin (AAT) which results in destruction of the elastin component of the lung structure. The disorder tends to run in families (familial)....more »
    1815. Familial hyperchylomicronemia
     A rare inherited inborn error of metabolism involving the absence of the enzyme called lipoprotein lipase which results in increased blood triglyeride and chylomicron levels....more »
    1816. Familial hyperlipoproteinemia type 1
     A genetic disorder characterized by abnormal lipid (chylomicrons and high triglyceride lipids) breakdown which results in its accumulation in the blood. The disorder is caused by the reduced or absent activity of the enzyme lipoprotein lipase. The severit...more »
    1817. Familial hypertension
     An inherited from of high blood pressure that tends to run in families....more »
    1818. Familial hypopituitarism
     Impaired pituitary gland hormone-producing activity that tends to run in families. The failure of the pituitary gland in turn affects other hormone-producing glands which rely on the hormones from the pituitary gland for their activity. Symptoms are deter...more »
    1819. Familial hypothyroidism
     Impaired thyroid activity that tends to run in families....more »
    1820. Familial infantile metachromatic leukodystrophy -- late infantile
     An infantile form of an inherited biochemical disorder involving a deficiency of an enzyme called cerebroside sulfatase. The enzyme deficiency causes cerebroside sulfate to build up within the body and causes damage to the nervous system including the bra...more »
    1821. Familial interstitial fibrosis
     A rare familial disorder involving fibrosis and scarring of the lung tissue which causes the lung to become stiff and unable to function normally....more »
    1822. Familial isolated deficiency of vitamin E
     A rare neurodegenerative disorder caused by an inherited condition where the body is unable to absorb vitamin E from the food consumed....more »
    1823. Familial pulmonary arterial hypertension
     Familial pulmonary arterial hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition occurs in a familial pattern i.e. tends to run i...more »
    1824. Familial renal cell carcinoma
     A genetic form of kidney cancer that develops in the lining of the tubules in the kidney and tends to run in families....more »
    1825. Familial, Systemic, Juvenile Granulomatosis
     A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions....more »
    1826. Famotidine -- Teratogenic Agent
     There is evidence to indicate that exposure to Famotidine (used to treat and prevent ulcers) 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 b...more »
    1827. Fanconi pancytopenia
     A rare genetic disorder characterized by upper limb defects and kidney abnormalities....more »
    1828. Fanconi-ichthyosis-dysmorphism
     A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months....more »
    1829. Farouk-induced lead poisoning
     Farouk is a folk remedy by Saudi Arabian people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is sti...more »
    1830. Favre-Goldman syndrome
     A type of eye disease inherited in a familial manner....more »
    1831. Faye-Petersen-Ward-Carey syndrome
     A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities....more »
    1832. Fechtner syndrome
     A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes....more »
    1833. Feline spongiform encephalopathy
     A prion disease believed to affect felines in a similar fashion to bovine spongiform encephalitis...more »
    1834. Felty Syndrome
     A rare complication of long-term rheumatoid arthritis which involves an enlarged spleen and blood abnormalities....more »
    1835. Femoral facial syndrome
     A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate....more »
    1836. Femur-fibula-ulna syndrome
     A very rare syndrome characterized mainly by abnormalities of the thigh, forearm and calf bone. The degree of abnormality and number of limbs involved is variable. The upper limbs are affected more than the lower limbs and the right side is affected more ...more »
    1837. Fenton-Wilkinson-Toselano syndrome
     A rare syndrome characterized mainly by ataxia, light sensitivity and short stature....more »
    1838. Fernhoff-Blackston-Oakley syndrome
     A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities....more »
    1839. Fetal aminopterin syndrome
     A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate....more »
    1840. Fetal methylmercury syndrome
     Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta....more »
    1841. Fetal minoxidil syndrome
     Fetal exposure to minoxidil which can pass from the mother to the fetus through the placenta. Minoxidil is a blood vessel dilator mainly used to treat high blood pressure but has other uses as well. Increased body hair is the main consistent effect of exp...more »
    1842. Fetal warfarin syndrome
     A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities....more »
    1843. Fibrochondrogenesis
     A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death....more »
    1844. Fibronectin-Deficient EDS
     A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae)....more »
    1845. Fibula aplasia complex -- brachydactyly
     A very rare syndrome characterized mainly by short fingers small or absent fibula (calf bone) and other bone abnormalities....more »
    1846. Fibular aplasia -- ectrodactyly
     A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet....more »
    1847. Fibular hypoplasia or aplasia -- femoral bowing -- oligodactyly
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    1848. Filippi Syndrome
     A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features....more »
    1849. Fine-Lubinsky syndrome
     A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation....more »
    1850. Finger conditions
     Conditions that affect the fingers...more »
    1851. Finger sprain
     Damage to ligaments in a finger....more »
    1852. Finlay-Markes syndrome
     A very rare syndrome characterized mainly by scalp, nipple and ear abnormalities....more »
    1853. Fire cherry poisoning
     Fire cherry is a tree found mainly in the US. Ti bears round clusters of flowers and fruit with a large pit. The wilted leaves, stems and seeds contain cyanogenic glycoside and amygdalin which can be very poisonous if eaten. Severe cases of poisoning can ...more »
    1854. Fischer Syndrome
     A rare condition characterized by unusual facial appearance, thickened skin on palms and soles, physical and mental delay and various other anomalies....more »
    1855. Fish-eye disease
     A familial disorder involving corneal opacities and low HDL cholesterol levels. It occurs as a result of an enzyme (lecithin:cholesterol acyltransferase) deficiency....more »
    1856. Fisher (M.) syndrome
     A rare type of nerve disease involving muscle coordination problems, eye muscle paralysis and absent reflexes. It appears to be caused by the body's own immune system destroying the protective layer around nerves. The condition is usually preceded by a vi...more »
    1857. Fitzsimmons-Guilbert syndrome
     A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly....more »
    1858. Fitzsimmons-McLachlan-Gilbert syndrome
     A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles....more »
    1859. Fitzsimmons-Walson-Mellor syndrome
     A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness....more »
    1860. Flax poisoning
     Flax is slender-stemmed herb which bears blue flowers and capsulated fruit containing smooth brown seeds. The plant originated in Europe but is found in many parts of the world growing wild. The plant contains a chemical called linomarin (a cyanogenic gly...more »
    1861. Floating Harbor Syndrome
     A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay....more »
    1862. Fluoxetine -- Teratogenic Agent
     There is evidence to indicate that exposure to Fluoxetine 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...more »
    1863. Flurazepam -- Teratogenic Agent
     There is evidence to indicate that exposure to Flurazepam 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...more »
    1864. Flynn-Aird syndrome
     A rare inherited disorder where neurological degeneration causes symptoms such as dementia, ataxia, eye problems, skin disorders and muscle wasting....more »
    1865. Focal dermal hypoplasia
     A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk and extremities....more »
    1866. Focal seizure
     A focal seizure is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. During a focal seizure, movement, sensations, feelin...more »
    1867. Focal seizures
     A deficiency of folate in the body...more »
    1868. Focal sensory seizure
     A focal sensory seizure is an electrical disturbance that originates in a part of the brain involved with the senses. The resulting symptoms involve unusual sensations that affect andy of the senses - touch, taste, hearing, vision and smell....more »
    1869. Folate-deficiency anemia
     Folate-deficiency anemia is a blood condition characterized by low levels of folate in the body which leads to a reduction in the number of red blood cells. It is usually the result of a poor diet, malabsorption issues or the use of certain medications....more »
    1870. Follicular ichthyosis
     A genetic skin disorder which causes the skin to become red, dry and scaly. It can occur anywhere on the body where there are hair follicles....more »
    1871. Food Additive Adverse reaction -- chocolate
     An intolerance to chocolate is an adverse reaction (not an immune response) by the body to chocolate. The adverse reaction results from the body's inability to metabolize the food. The amount of chocolate required to trigger the onset of symptoms and the ...more »
    1872. Food Additive Adverse reaction -- citric acid intolerance
     An intolerance to citric acid is an adverse reaction (not an immune response) by the body to citric acid or foods containing citric acid. Citric acid can be found naturally in foods but is also frequently used as an additive to various foods. The adverse ...more »
    1873. Food Additive Adverse reaction -- sulphite
     An intolerance to sulphite is an adverse reaction (not an immune response) by the body to sulphite. The adverse reaction results from the body's inability to metabolize the substance. The amount of sulphite required to trigger the onset of symptoms and th...more »
    1874. Forbes-Albright syndrome
     A rare condition where a hormone secreting pituitary or hypothalamic tumor causes galactorrhea and amenorrhea....more »
    1875. Fosinopril -- Teratogenic Agent
     There is evidence to indicate that exposure to Fosinopril 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...more »
    1876. Fowler-Christmas-Chapple syndrome
     A rare syndrome characterized by the association of polycystic ovaries with the abnormal functioning of the urinary valve....more »
    1877. Fox-Fordyce Disease
     A rare disorder where sweat trapped in the sweat glands results in itching inflammation of the involved tissue...more »
    1878. Fragile-X Syndrome
     A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females....more »
    1879. Franceschetti-Klein syndrome
     A rare genetic disorder characterized by malar hypoplasia, down-slanting eye slits, defect of lower eye lid and malformation of external ear....more »
    1880. Francois dyscephalic syndrome
     A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis....more »
    1881. Frank-Ter Haar syndrome
     A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities....more »
    1882. Fraser-Jequier-Chen syndrome
     A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis)....more »
    1883. Freire-Maia syndrome
     An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases....more »
    1884. Frias syndrome
     A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies....more »
    1885. Friedel Heid Grosshans syndrome
     A very rare syndrome characterized mainly by kidney stones, completely white nails and cysts that form in oil producing areas of skin....more »
    1886. Frints -- De Smet -- Fabry -- Fryns syndrome
     A rare syndrome characterized by a variation of Larsen syndrome where the physical manifestations are asymmetrical. This is believed to be a mosaic form of the genetic condition where the genetic anomaly is present in only some of the body's cells leading...more »
    1887. Froelich's syndrome
     A rare condition where an endocrine abnormality (caused by such things as a pituitary tumor or damage to the hypothalamus) affects hormone levels which results in a variety of symptoms....more »
    1888. Frontometaphyseal dysplasia
     A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles....more »
    1889. Frontonasal dysplasia -- phocomelic upper limbs
     A very rare syndrome characterized mainly by short arms, facial anomalies and various other abnormalities....more »
    1890. Froster-Iskenius-Waterson syndrome
     A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles....more »
    1891. Fryns Syndrome
     A rare genetic disorder characterized by diaphragmatic abnormalities, coarse face and abnormal growth or development of ends of fingers and toes....more »
    1892. Fryns-Fabry-Remans syndrome
     A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body....more »
    1893. Fryns-Smeets-Thiry syndrome
     A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities....more »
    1894. Fuchs atrophia gyrata chorioideae et retinae
     A very rare disorder involving progressive degeneration of particular eye structures (choroids, pigment epithelium and retina). The condition causes the peripheral and night vision to progressively deteriorate and ultimately blindness occurs....more »
    1895. Fucosidosis type 1
     A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which sta...more »
    1896. Fucosidosis type II
     A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progre...more »
    1897. Fuhrmann syndrome
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    1898. Fuhrmann-Rieger-de Sousa syndrome
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    1899. Fukuda-Miyanomae-Nakata syndrome
     A rare syndrome characterized mainly tooth, bone and nail abnormalities as well as anal and urethral anomalies....more »
    1900. Fukuyama type muscular dystrophy
     A rare inherited muscle wasting disease occurring predominantly in Japan and characterized by mental retardation and muscle weakness from infancy....more »
    1901. Functioning pancreatic endocrine tumor
     Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase....more »
    1902. 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 »
    1903. Fungal nail infections
     Fungal conditions of the toenail or fingernail...more »
    1904. GM1 gangliosidosis
     A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the...more »
    1905. GM2-gangliosidosis, AB variant
     A very rare inherited disorder where the brain and spinal cord nerve cells (central nervous system) are progressively destroyed....more »
    1906. GSD IIB -- formerly
     A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called ...more »
    1907. GSD2B -- formerly
     A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called ...more »
    1908. Galactokinase deficiency
     A rare condition where an enzyme deficiency (galactokinase) impaires the body's ability to break down galactose consumed in the diet....more »
    1909. Galactosemia I
     A rare inherited disorder where deficiency of a particular enzyme (galactose-1-phosphate uridyl transferase) prevents the metabolism of galactose which is a sugar component of milk. Ranges from milk intolerance in mild cases to death in severe untreated c...more »
    1910. Galactosemia III
     A rare inherited disorder where deficiency of a particular enzyme (UDP-Galactose-4-epimerase) prevents the metabolism of galactose which is a sugar component of milk. The condition may vary from mild to severe....more »
    1911. Gamma Hydroxybutyric Acid -- Teratogenic Agent
     There is evidence to indicate that exposure to Gamma Hydroxybutyric Acid 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 le...more »
    1912. Ganglioglioma
     A type of tumor that develops in the central nervous system. The tumor originates from glial and nerve cells. The tumor may grow rapidly and symptom will vary depending on the exact location and size of the tumor....more »
    1913. Ganglion cyst
     Cyst affecting the sheath of tendons...more »
    1914. Gangliosidosis generalized GM1, type 1
     A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the...more »
    1915. Gangliosidosis, generalized GM1 type 3
     A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of acc...more »
    1916. Garret-Tripp syndrome
     A rare syndrome characterized mainly by extra digits, a lack of hair and scaly skin on the scalp, face and neck....more »
    1917. Gastro-enteropancreatic neuroendocrine tumor
     A rare form of gastrointestinal tumor. It includes two main groups of cancer called carcinoid and endocrine pancreatic tumors. Some of the tumors consist of hormone secreting cells which results in excessive secretion of certain hormones....more »
    1918. Gaucher disease -- perinatal lethal form
     A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease....more »
    1919. Gaucher disease type 3
     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 3 is a subacute neurologica...more »
    1920. Gaucher-like disease
     A very rare inherited condition where the body's inability to bread down a certain fat (glucocerebroside) causes it to accumulate in body tissues and organs where it can cause damage. Gaucher-like disease is a sub-type of Gaucher disease which primarily a...more »
    1921. Geleophysic dwarfism
     A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities....more »
    1922. Gene-Wiedemann syndrome
     An extremely rare birth disorder characterized by mental retardation and a variety of physical defects....more »
    1923. Generalized Myasthenia Gravis
     Myasthenia gravis is a chronic neuromuscular disease resulting from autoimmune dysfunction. In generalized myasthenia gravis weakness develops mainly in the limbs and trunk. The severity of symptoms may vary amongst patients. Most patients suffer increase...more »
    1924. Generalized pustular psoriasis
     This is a rare form of psoriasis is also known as von Zumbusch psoriasis. It can be life-threatening especially in the elderly. It is characterized by the development of pustules in the flexural areas - the backs of the knees, the insides of the elbows, t...more »
    1925. Genetic Parkinson disease
     A type of Parkinson disease that results from a genetic anomaly. There are a more than ten different genes that can cause Parkinson disease....more »
    1926. Genoa syndrome
     A rare disorder characterized mainly by premature fusion of skull bones and partial separation of the two brain halves....more »
    1927. 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 »
    1928. German syndrome
     A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities....more »
    1929. Gerodermia osteodysplastica
     A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily....more »
    1930. Gerodermia osteodysplastica hereditaria
     A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily....more »
    1931. Gerodermia osteodysplasticum
     A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily....more »
    1932. Gerstmann's Syndrome
     Brain defect causing various cognitive problems....more »
    1933. Ghasard-induced lead poisoning
     Ghasard is a lead-containing tetraoxide salt used mainly by Asian and Indian people as a tonic (usually for indigestion). This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible ...more »
    1934. Ghosal syndrome
     A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities....more »
    1935. Ghose-Sachdev-Kumar syndrome
     A rare eye disorder characterized by small eyes which suffer glaucoma and progressive vision loss....more »
    1936. Ghost cell glaucoma
     Ghost cell glaucoma can occur after vitreous hemorrhage when the residual deformed red blood cells gain access to the anterior chamber and clog the trabecular meshwork resulting in increased intraocular pressure....more »
    1937. Gigantism partial -- nevi -- hemihypertrophy -- macrocephaly
     A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body....more »
    1938. Glass chapman hockley syndrome de
     A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape....more »
    1939. Glaucoma -- iridogoniodysgenesia
     A rare genetic eye disorder involving glaucoma and iris anomalies and resulting infn vision loss....more »
    1940. Glaucoma 1, open angle C
     A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 3q212-q24....more »
    1941. Glaucoma 1, open angle D
     A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 9q23....more »
    1942. Glaucoma 1, open angle F
     A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 7q35-q36....more »
    1943. Glaucoma 1, open angle, B
     A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 2cen-q13....more »
    1944. Glaucoma 1, open angle, E
     A inherited form of open-angle glaucoma caused by a genetic mutation....more »
    1945. Glaucoma 1, open angle, G
     A inherited form of open-angle glaucoma caused by a genetic mutation (WDR36 gene on chromosome 5q22.1)....more »
    1946. Glaucoma 1, open angle, I
     A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 15q11-q13....more »
    1947. Glaucoma 1, open angle, J
     A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 9q22....more »
    1948. Glaucoma 1, open angle, K
     A inherited form of open-angle glaucoma caused by a genetic mutation (WDR36 gene on chromosome 20p12....more »
    1949. Glaucoma 3, primary congenital A
     A recessively inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 2p22-p21....more »
    1950. Glaucoma 3, primary infantile, B
     A inherited form of open-angle glaucoma caused by a genetic mutation on chromosome 1p36.2-p36.1....more »
    1951. Glaucoma acquired secondary to intraocular neoplasm
     It is characterised by elevated intraocular pressure....more »
    1952. Glaucoma associated with systemic abnormalities
     Elevation of the intraocular pressure maybe secondary to systemic conditions as listed below....more »
    1953. Glaucoma in ciliochorodial detachment
     Increase in intraocular pressure due to ciliochoroidal detachment...more »
    1954. Glaucoma in epithelial ingrowth
     The rise of intraocular pressure due epithelial ingrowths ,commonly seen in aphakic eyes...more »
    1955. Glaucoma, hereditary
     An inherited form of glaucoma - includes congenital glaucoma, juvenile glaucoma and adult open-angle glaucoma....more »
    1956. Glaucoma, normal tension, susceptibility to
     An increased susceptibility to a form of glaucoma (normal tension) resulting from a genetic anomaly. Not all people with this genetic anomaly will develop the condition but their risk of developing it is greater, especially if other risk factors for glauc...more »
    1957. Glaucoma, primary open angle
     A common form of chronic glaucoma for which the cause is yet to be determined. It primarily affects older people and involves the gradual increase of pressure inside the eye. This eventually leads to damage to the optic nerve and results in vision impairm...more »
    1958. Glaucoma-like clouding of vision
     Blurring of vision....more »
    1959. Glioblastoma
     An aggressive primary brain tumour of the glial (supporting) cells....more »
    1960. Glioma
     A rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and location of ...more »
    1961. Glioma Susceptibility
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    1962. Glioma Susceptibility 1
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    1963. Glioma Susceptibility 2
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    1964. Glioma Susceptibility 3
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    1965. Glioma Susceptibility 4
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    1966. Glioma Susceptibility 5
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    1967. Glioma Susceptibility 6
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    1968. Glioma Susceptibility 7
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    1969. Glioma Susceptibility 8
     A glioma is a rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and ...more »
    1970. Gliomatosis cerebri
     A rare, aggressive type of malignant brain tumor. Cancerous glial cells infiltrate various parts of the brain and can result in a variety of symptoms....more »
    1971. Gliosarcoma
     A type of brain tumor that originates from glial cells. The tumor may grow rapidly and symptom will vary depending on the exact location and size of the tumor....more »
    1972. Glomerular Disease
     Condition affecting the glomerules in the kidney....more »
    1973. Gloomy syndrome
     A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected....more »
    1974. Glossopalatine ankylosis -- micrognathia -- ear anomalies
     A very rare syndrome characterized mainly by a small jaw, ear abnormalities and abnormal attachment of back of tongue (glossopalatine ankylosis)....more »
    1975. Glutamate decarboxylase deficiency
     A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called glutamate decarboxylase which causes seizures that will only respond to pyridoxine (vitamin B6)....more »
    1976. Glutamine deficiency, congenital
     A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth....more »
    1977. Glutaric aciduria 2
     A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe and often results in death. Severe cases ...more »
    1978. Glycogen Storage Disease IIb -- formerly
     A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called ...more »
    1979. Glycogen storage disease type 2B
     A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. Type IIB usually starts during childhood....more »
    1980. Glycogen storage disease type 2B -- formerly
     A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called ...more »
    1981. Gms syndrome
     A rare syndrome characterized by mental retardation, short stature and an eye abnormality....more »
    1982. Goldberg syndrome
     A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infanti...more »
    1983. Goldblatt-Viljoen syndrome
     A rare syndrome characterized by a fully or partially blocked nasal passage and abnormalities of the forearm bone (radius) and thumbs....more »
    1984. Goldblatt-Wallis syndrome
     A very rare syndrome characterized by mental retardation and an abnormally placed urethral opening in males....more »
    1985. Golden-Lakin syndrome
     A rare syndrome characterized by a webbed neck, sunken chest, curved spine and various other abnormalities....more »
    1986. Goldstein-Hutt syndrome
     A rare syndrome characterized mainly by cataracts, excessive eyelash growth and and a blood abnormality (the red blood cells are spherical instead of doughnut shaped which makes them fragile)....more »
    1987. Gollop Coates syndrome
     A very rare type of arm malformation involving only one arm. The lower part of the upper arm bone is forked as well as the absence of some digits and fusion of others....more »
    1988. Gonadal dysgenesis XY type associated anomalies
     A very rare syndrome characterized mainly by a large range of variable physical abnormalities and gonad anoamlies....more »
    1989. Goossens-Devriendt syndrome
     A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers....more »
    1990. Gorlin-Bushkell-Jensen syndrome
     A rare disorder characterized by the development of numerous sebaceous cysts (mainly on the back, chest, arms, thighs and scrotum) as well as kidney stones and white nails....more »
    1991. Gorlin-Chaudhry-Moss Syndrome
     A very rare inherited condition involving various physical and mental abnormalities....more »
    1992. Gottron's syndrome
     A very rare inherited disorder characterized by the gradual loss of fatty tissue under the skin which results in a prematurely aged appearance. The hands and feet tend to be the most affected with thin, delicate skin....more »
    1993. Gout
     Painful joints, most commonly the big toe....more »
    1994. Gracile bone dysplasia
     An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities....more »
    1995. Gradenigo's syndrome
     A complication that can develop from a middle ear infection that spreads to the mastoid bone of the skull. The syndrome involves the association of headache, ear infection and sixth cranial nerve palsy....more »
    1996. Graeck-Imerslund disease
    1997. Grand-Kaine-Fulling syndrome
     A very rare syndrome characterized by disease of the retinal blood vessels and degeneration of the central nervous system....more »
    1998. Grange syndrome
     A rare syndrome characterized by the abnormal narrowing of various arteries, high blood pressure, heart defects, fragile bones and short, webbed digits. The congenital heart defects are not present in all cases....more »
    1999. Granuloma annulare
     A harmless skin disease characterized by raised, bumpy, ring-shaped skin lesions....more »
    2000. Granulomatous Angiitis of the Central Nervous System
     Inflammation of blood vessels in the central nervous system (brain and spinal cord). The condition tends to recur....more »
    2001. Granulomatous arthritis of childhood
     A rare chronic inflammatory condition that starts during early childhood and is characterized by arthritic joints, uveitis and a skin rash that forms on the trunk and limbs....more »
    2002. Granulomatous hypophysitis
     A rare disorder caused by the inflammation of the pituitary gland. It can occur as a result of other infections such as tuberculosis and sarcoidosis....more »
    2003. Grasbeck-Imerslund Disease
     A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten....more »
    2004. 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 »
    2005. Grayson-Willbrandt syndrome
     A rare condition involving the degeneration of the front membrane of the eye which causes occasional episodes of eye redness, pain and visual impairment....more »
    2006. Green nail syndrome
     A nail infection caused by Pseudomonas aeruginosa and sometimes Aspergillus. The infection tends to occur in women who spend a lot of time with their hands in soapy water or detergents. The nails develop varying patterns of greenish discoloration....more »
    2007. Greig Cephalopolysyndactyly Syndrome
     A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities....more »
    2008. Greta-induced lead poisoning
     Greta is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Chil...more »
    2009. Griseofulvin -- Teratogenic Agent
     There is evidence to indicate that exposure to Griseofulvin (an antifungal drug) 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 b...more »
    2010. Grix-Blankenship-Peterson syndrome
     A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities....more »
    2011. Grob syndrome
     A rare disorder characterized by a partial lack of hair, epicanthus, cleft lip and palate, mental deficiency, short fingers and various other anomalies....more »
    2012. Groenouw type I corneal dystrophy
     A rare genetic condition affecting the corneas can resulting in impaired vision usually by fifth or sixth decade....more »
    2013. Gronblad-Strandberg-Touraine syndrome
     A group of inherited, progressive connective tissue disorders affecting the skin, eyes and cardiovascular system. The condition is characterized by calcium deposits in the connective tissue which affects its ability to function. Some cases remain undiagno...more »
    2014. Growth Hormone Receptor Deficiency
     Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from bind...more »
    2015. 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 »
    2016. Growth deficiency brachydactyly unusual facies
     A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies....more »
    2017. Guaifenesin -- Teratogenic Agent
     There is evidence to indicate that exposure to Guaifenesin 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 »
    2018. Guizar-Vasquez-Sanchez-Manzano syndrome
     A rare syndrome characterized by loose joints, chest deformity and unusual facial appearance....more »
    2019. Gurrieri-Sammito-Bellussi syndrome
     A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities....more »
    2020. Gustavson syndrome
     A very rare condition characterized by features such as mental retardation, spasticity, seizures and eye and ear problems....more »
    2021. 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 »
    2022. HARD syndrome
     A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities....more »
    2023. HARD syndrome (Hydrocephalus -- agyria -- retinal dysplasia)
     A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities....more »
    2024. HEC syndrome
     A very rare syndrome characterized mainly by excess fluid inside the skull, cataracts and thickening of the heart....more »
    2025. HELLP syndrome
     A rare potentially fatal condition that occurs in pregnant women and is frequently associated with pre-eclampsia....more »
    2026. HERNS syndrome
     A rare inherited syndrome characterized by blood vessel disease which causes eye and kidney disease and strokes. Neurological manifestations tend to occur around the 2nd and 3rd decade of life due to the blood vessels in the brain being affected....more »
    2027. 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 »
    2028. Hagemoser Weinstein Bresnick syndrome
     A very rare syndrome characterized mainly by deafness, neuropathy and vision problems....more »
    2029. Hai Ge Fen-induced lead poisoning
     Hai Ge Fen is clamshell powder used mainly by Chinese people to make traditional Chinese herbal medicines. This product has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of l...more »
    2030. Haim-Munk syndrome
     A rare inherited disorder involving red, thickened patches of skin on the palms and soles, skin infections and nail and teeth abnormalities....more »
    2031. Halal Setton Wang syndrome
     A very rare syndrome characterized mainly by eye, teeth, nail and skin abnormalities....more »
    2032. Halal syndrome
     A very rare syndrome characterized mainly by a small head and a cleft palate....more »
    2033. Hall-Riggs mental retardation syndrome
     A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities....more »
    2034. Hallervorden-Spatz Syndrome
     A syndrome in which the nerve fibers which connect the striatum to the globus pallidus are completely demyelinated...more »
    2035. Hallervorden-Spatz disease
     Nerve disorder causing movement problems....more »
    2036. Hallucination
     Incorrect perception of any of the senses....more »
    2037. Hamman-Rich syndrome
     A rare acute lung disease where the lung sufferers progressive inflammation and fibrosis which often leads to death....more »
    2038. Hand conditions
     Any condition that affects the hand...more »
    2039. Hand injury
     Any injury to the hand...more »
    2040. Hand neuropathy
     Neuropathy (nerve damage) affecting the hands...more »
    2041. Hand, Foot, & Mouth Disease
     Common contagious viral infant or child condition...more »
    2042. Hand-Schuller-Christian Syndrome
     A group of blood disorder involving excess production of histiocytes (type of immune cell) throughout the body. Accumulation of histiocytes results in non-cancerous growths which can damage organs and other body tissues such as bones. Symptom vary hugely ...more »
    2043. Hand-foot-uterus syndrome
     A rare genetic condition characterized by hand, foot and uterus abnormalities....more »
    2044. Hanhart Syndrome
     An autosomal recessive disorder due to a deficiency in the body of the tyrosine amino transferase enzyme....more »
    2045. Hapnes-Boman-Skeie syndrome
     A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally....more »
    2046. Harrod Doman Keele syndrome
     A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities....more »
    2047. Hartnup Disease
     A rare metabolic disorder involving an error in the transport of neutral amino acid and characterized by mental retardation, rash due to light sensitivity and cerebellar ataxia....more »
    2048. Haspeslagh Fryns Muelenaere syndrome
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    2049. Hawaiian Baby Woodrose poisoning
     The Hawaiian Baby Woodrose is a woody vine that grows in tropical climates such as in Hawaii, India, Florida and California. The plant bears rose-colored flowers and black seeds. The seeds contain ergoline alkaloids which can produce effects similar to LS...more »
    2050. Hay-Wells Syndrome
     A rare genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate....more »
    2051. Hay-Wells syndrome, recessive type
     A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lowe...more »
    2052. Head Cancer
     A malignancy that occurs on the head...more »
    2053. Head Conditions
     Conditions that affect the head...more »
    2054. Head lice
     Small lice infesting the hair and head....more »
    2055. Headache
     In medicine a headache or cephalalgia is a symptom of a number of different conditions of the head and sometimes neck. Some of the causes are benign while others are medical emergencies. It ranks among the most common pain complaints...more »
    2056. Headache-free migraine
     A syndrome with no headache but other migraine-like symptoms...more »
    2057. Heart cancer
     A malignancy that is located in the heart...more »
    2058. Heart defect, tongue hamartoma and polysyndactyly
     A very rare syndrome characterized mainly by webbed fingers, congenital heart defects and tongue tumors....more »
    2059. Heart-hand syndrome, Slovenian type
     A rare disorder characterized by heart and hand abnormalities....more »
    2060. Heart-hand syndrome, Spanish type
     A very rare syndrome characterized mainly by heart and hand abnormalities....more »
    2061. Heckenlively syndrome
     A rare syndrome characterized by eye anomalies, behavioral problems and abnormal amino acid metabolism....more »
    2062. Heerfordt syndrome
     A disorder sometimes associated with sarcoidosis and characterized by inflammation of the uvea of the eye, enlarged salivary gland, fever and facial paralysis....more »
    2063. Heidenhain syndrome
     A form of premature dementia caused by degeneration of the brain. It is considered a variant of Creutzfeldt-Jakob disease. Heidenhain syndrome is characterized mainly by eye problems whereas Creutzfeldt-Jakob predominantly involves ataxia....more »
    2064. Helminth infections
     The infection by a parasitic worm...more »
    2065. Hemangioblastoma
     A benign tumor that tends to occur in the central nervous system such as the brain and spinal cord. The tumor arises from the stem cells that develop into blood vessels or blood cells (hemangioblasts). Symptoms vary depending on the exact location and siz...more »
    2066. Hemianopia
     Loss of half vision in both eyes...more »
    2067. Hemimegalencephaly
     A very rare disorder where one side of the brain is bigger than the other....more »
    2068. Hemiplegic migraine, familial type 1
     A rare inherited form of migraine that characteristically causes temporary paralysis on one side of the body and involves the presence of an aura. A migraine episode may be triggered by minimal trauma to the head. The severity of the disorder is variable ...more »
    2069. Hemoglobin S/hemoglobin Lepore, Boston
     A blood disorder that mainly causes hemolytic anemia with great variability of symptoms....more »
    2070. Hemoglobin SC
     A genetic blood disorder where the patient inherits a gene for hemoglobin S from one parent and hemoglobin C from another. Severity of symptoms is variable....more »
    2071. Hemolytic anemia
     Hemolytic anemia is a term used to describe the premature desctruction of red blood cells. Red blood cells are normally broken down every 3-4 months and replaced but in haemolytic anemia the red blood cells are broken down at a faster rate than they can b...more »
    2072. Hemorragic fever with renal syndrome
     A group of infectious diseases that involve bleeding, fever and kidney problems. Examples of viruses that can cause such infectious diseases include Hantan virus, Puumala virus and Seoul virus. Examples of diseases caused by viruses in this group includes...more »
    2073. Henna-induced lead poisoning
     Henna is used mainly by Middle Eastern people as a hair and skin dye. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is ...more »
    2074. Heparin -- Teratogenic Agent
     There is evidence to indicate that exposure to Heparin (an anticoagulant drug) 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 ...more »
    2075. Herbal Agent adverse reaction -- Polygonum multiflorum
     The root from the Polygonum multiflorum can be used as a herbal agent to treat constipation, insomnia and vertigo. The herbal agent contains anthraquinones which can cause an adverse reaction in some people....more »
    2076. Herbal Agent adverse reaction -- Senna
     Senna can be used to treat constipation or to prepare the colon for a rectal examination. The herbal agent can cause an adverse reaction in some people....more »
    2077. Herbal Agent overdose -- Betel Nut
     Betel Nut is used as a herbal agent used alleviate pain and improve mood problems. The betel nut contains chemicals such as (arecoline on raw nut, arecaidine - after roasting)and the ingestion of excessive amounts of these can result in symptoms. Chronic ...more »
    2078. Herbal Agent overdose -- Horse Chestnuts
     Horse Chestnuts can be used as a herbal agent to treat varicose veins, improve blood circulation through veins and to prevent fluid buildup following operations. The herbal agent contains a chemical called aesculin which can cause various symptoms if exce...more »
    2079. Herbal Agent overdose -- Nutmeg
     Nutmeg can be used as a herbal agent to treat delayed menstruation. The herbal agent can cause various overdose symptoms if excessive quantities are taken....more »
    2080. Herbal Agent overdose -- Valerian
     Valerian can be used as a herbal agent to improve sleep and to treat anxiety, headaches, panic attacks and abdominal cramps. The herbal agent contains chemicals which can cause various symptoms if excessive quantities are taken....more »
    2081. Herbal Agent overdose -- Wormwood
     Wormwood can be used to treat worm infestations and as a sedative or hair tonic. The herbal agent contains chemicals which can cause various symptoms if excessive quantities are taken....more »
    2082. Hereditary hypothyroidism
     Hereditary hypothyroidism is a condition in which there is a defect in the thyroid gland which leads to increased production of TSH reduced production of thyroid hormone....more »
    2083. Hereditary koilonychia
     An inherited anomaly where the nails are flattened or concave-shaped rather than the normal curved shape....more »
    2084. Hereditary neuropathy with liability to pressure palsies
     A rare disorder where the peripheral nerves are more sensitive to pressure than normal which results in recurring periods of numbness, tingling and sometimes loss of muscle function. The condition can affect one or more nerves such as the carpal tunnel ne...more »
    2085. Hereditary paroxysmal cerebral ataxia
     A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus (rapid, involuntary eye movements). Stress, exertion, alcohol and coffee may trigger the episodes which can last from minutes to days....more »
    2086. Hereditary vascular retinopathie -- Raynaud phenomenon -- migraine
     An inherited disorder characterized by a disease of the small retinal blood vessels, migrains and Raynaud's phenomenon....more »
    2087. Hermansky-Pudlak Syndrome
     A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect and accumulation of a waxy substance in cells (lysosomal ceroid storage)....more »
    2088. Hermansky-Pudlak syndrome type 2
     A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect, an accumulation of a waxy substance in cells (lysosomal ceroid storage) and immunodeficiency. HPS type 2 differs from type 1 in that it also involves immunode...more »
    2089. Herpes, Neonatal
     Neonatal herpes is the infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is high...more »
    2090. Herpes, Neonatal -- Central Nervous System Infection
     Central nervous system herpes infection in neonates is a herpes infection of the central nervous system (brain, spinal cord) that develops in infants within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is ...more »
    2091. Herpes, Neonatal -- Mucocutaneous and Ocular Infection
     Mucocutaneous herpes infection in neonates is a herpes infection of the mucous membranes within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitt...more »
    2092. Herpetic keratitis
     A corneal inflammation due to a herpes virus - either herpes simplex or herpes zoster virus....more »
    2093. Herrmann Opitz arthrogryposis syndrome
     A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature....more »
    2094. Herrmann-Opitz craniosynostosi
     A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance....more »
    2095. Hersh-Podruch-Weisskopk syndrome
     A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness....more »
    2096. Hexachlorophene -- Teratogenic Agent
     There is evidence to indicate that exposure to Hexachlorophene 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 »
    2097. Hidrotic ectodermal dysplasia, type Christianson-Fourie
     A very rare syndrome characterized mainly by hair and nail abnormalities....more »
    2098. High Blood Pressure/Hypertension
    2099. 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 »
    2100. Histidinuria, renal tubular defect
     A very rare syndrome where a kidney defect causes high levels of histidine in the urine....more »
    2101. Hobo spider poisoning
     The Hobo spider is a type of funnel web spider which can deliver a painful bite. Their bite can cause localized tissue necrosis which can take a long time to heal. Systemic symptoms may occur in severe cases but this is rare....more »
    2102. Hoigne syndrome
     Embolism (blood vessel blockage) and neurological problems associated with a procaine penicillin injection into the muscle. The condition is believed to be caused by some of the drug getting into the blood stream....more »
    2103. Holoprosencephaly -- ectrodactyly -- cleft lip/palate
     A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes....more »
    2104. Holoprosencephaly, recurrent infections, and monocytosis
     A rare syndrome characterized by recurring infections and a brain anomaly. Death usually occurs during the first years of life due to sepsis....more »
    2105. Holt-Oram Syndrome
     A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected....more »
    2106. Holzgreve-Wagner-Rehder syndrome
     A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies....more »
    2107. Homocystinuria
     A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body....more »
    2108. Homocystinuria due to cystathionine beta-synthase deficiency
     A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manife...more »
    2109. Homocystinuria due to defect in methylation cbl e
     An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in ...more »
    2110. Homocystinuria syndrome
     A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis....more »
    2111. Hooft disease
     A rare disorder characterized by mental and physical retardation, red rash and low blood lipid level....more »
    2112. Hoon-Hall syndrome
     A very rare syndrome characterized mainly by dislocated joints and various other skeletal abnormalities....more »
    2113. Hornova-Dlurosova syndrome
     A rare disorder characterized by mental retardation and amyloid (abnormal protein) deposits in the eyelids and gums....more »
    2114. Houlston ironton temple syndrome de
     A rare syndrome characterized by forearm abnormality, heart defect and an eye anomaly called blepharophimosis....more »
    2115. Howard-Young syndrome
     A very rare syndrome characterized mainly by a small head, facial cleft and an extra big toe....more »
    2116. Humerus, trochlea, aplasia of
     A very rare syndrome characterized by arm abnormalities primarily involving the absence of a part of the upper arm called the trochlea. The trochlea is the end of the arm bone which allows arm movement through it's pulley-like structure....more »
    2117. 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 »
    2118. Hunter-MacDonald syndrome
     A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas....more »
    2119. Huntington's Disease
     Inherited disease causing progressive mental deterioration....more »
    2120. Hurler syndrome
    2121. Hutchinson Gilford Syndrome
     A rare genetic disorder characterized by alopecia and senile-like appearance....more »
    2122. Hyacinth bean poisoning
     Hyacinth bean is a vine which bears elongated spikes of purple, white or pink flowers. The plant originated in Africa and is often used as an ornamental plant. The seeds and seed pod contain cyanogenic glycoside which can cause poisoning if large quantiti...more »
    2123. Hyalinosis, infantile systemic
     A rare genetic disorder involving abnormal deposits of hyaline throughout various body tissues. Manifestations include progressive joint contractures, skin abnormalities and pain....more »
    2124. Hydranencephaly
     A very rare condition where fluid replaces a portion of the brain....more »
    2125. Hydroa vacciniforme
     A rare skin disorder characterized the development of crusting skin eruptions following exposure to the sun....more »
    2126. Hydrolethalus syndrome
     A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly....more »
    2127. Hydrops ectrodactyly syndactyly
     A very rare disorder characterized mainly be webbed fingers and toes, hand defect and hydrops (abnormal accumulation of fluid in the fetus)....more »
    2128. Hydroxychloroquine -- Teratogenic Agent
     There is evidence to indicate that exposure to Hydroxychloroquine (an antimalarial drug) 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 af...more »
    2129. 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 »
    2130. Hyperaldosteronism-induced hypertension
     Hyperaldosteronism -induced hypertension is high blood pressure caused by excessive production of a hormone called aldosterone by the adrenal glands. The high blood pressure often responds poorly to the usual medications. Death can result in severe cases....more »
    2131. Hyperammonemia -- hypoornithinemia -- hypocitrullinemia -- hypoargininemia -- hypoprolinemia
     A rare syndrome caused by an enzyme deficiency (Delta-1-pyrroline 5-carboxylate synthetase)....more »
    2132. Hyperchromic Anemia
     Hyperchromic anemia is a blood disorder characterized by red blood cells which contain abnormally high amounts of haemoglobin as well as a reduced number of red blood cells. This anomaly is often caused by such things as Vitamin B12 deficiency and pernici...more »
    2133. Hyperferritinemia, hereditary with congenital cataracts
     A rare disorder characterized by high levels of ferritin in the blood and cataracts that usually occur during infancy....more »
    2134. Hyperhidrosis
     The excessive perspiration from ones skin...more »
    2135. Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
     A rare disorder involving an enzyme deficiency which results in increased methionine levels in the blood. The condition manifests as psychomotor delay and severe muscle disease....more »
    2136. Hyperopia
     Far-sightedness often requiring glasses...more »
    2137. Hyperornithinemia
     Excessive levels of ornithine in the blood caused by a deficiency of mitochondrial ornithine aminotransferase....more »
    2138. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
     A very rare inherited metabolic disorder where ammonia builds up in the body due to a defect in the transport of ornithine which prevents ammonia being converted to urea and being excreted through the urine. The severity of the condition is variable....more »
    2139. Hyperoxia
     A high level of oxygen in body tissues. It can be caused by exposure to high atmospheric pressure or long term inhalation of high oxygen concentrations. The high levels of oxygen may affect the lungs, nervous system or the eyes and thus can result in vary...more »
    2140. Hyperphalangism -- dysmorphy -- bronchomalacia
     A very rare syndrome characterized mainly by finger and toe abnormalities, unusual facial features and narrowed airways....more »
    2141. Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, And Hypogonadism
     A rare syndrome characterized by various skin and nail anomalies as well as other problems....more »
    2142. Hyperprolactinemia
     High levels of prolactin in the blood....more »
    2143. Hypersecretion of growth hormone
    2144. Hypertelorism -- esophageal abnormalities -- hypospadias
     A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosom...more »
    2145. Hypertelorism with esophageal abnormality and hypospadias
     A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females....more »
    2146. Hypertension
     High blood pressure...more »
    2147. Hypertension due to bilateral renal artery stenosis
     Hypertension due to bilateral renal artery stenosis is high blood pressure resulting from narrowing kidney blood vessels which prevents the blood from flowing through the kidneys properly....more »
    2148. Hypertension in children
    2149. Hypertension in children from 11 through adolescence
    2150. Hypertension in children one to ten years
    2151. Hypertension of pregnancy
     Pregnancy hypertension is the development of high blood pressure during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The increased blood pressure can cause complications in preg...more »
    2152. Hypertension-like disorders
    2153. Hypertensive heart disease
     Heart disease that is caused by hypertension...more »
    2154. 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 »
    2155. Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
     A very rare disorder characterized by thickened skin, mental retardation, increased body hair and a characteristic face....more »
    2156. Hypertryptophanemia
     A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood....more »
    2157. Hyperventilation
     Excessively rapid breathing causing blood gas imbalances...more »
    2158. Hyphema
     Bleeding between cornea and iris in the eye...more »
    2159. Hypocalcemia
     Low levels of calcium in the blood...more »
    2160. Hypocalcemia, autosomal dominant
     A dominantly inherited disorder of phosphate and calcium metabolism which results in low blood calcium levels. The severity of the condition is highly variable with some patients being asymptomatic....more »
    2161. Hypochondroplasia
     A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood....more »
    2162. Hypodontia -- nail dysgenesis
     A syndrome that is characterized by the occurrence of nail dysplasia and tooth abnormalities. Primary teeth are usually normal but some secondary teeth may be missing. The toenails tend to be more affected than the fingernails....more »
    2163. Hypoglycemia
     Low blood sugar level...more »
    2164. Hypoglycemic attack
     Sudden onset of low blood sugar levels...more »
    2165. Hypogonadism -- retinitis pigmentosa
     A very rare syndrome characterized by eye disease (retinal pigmentosa) and the absence of puberty caused by a deficiency of hormones that stimulate the sex organs (gonads) into producing the hormones that initiate puberty....more »
    2166. Hypomandibular faciocranial dysostosis
     A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue....more »
    2167. Hypomelanosis of Ito
     A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities....more »
    2168. Hypomelia -- mullerian duct anomalies
     A rare genetic disorder characterized by severely underdeveloped arms and uterine and vaginal abnormalities....more »
    2169. Hypomyelination -- congenital cataract
     A rare syndrome characterized by the association of congenital cataract with progressive neurological impairment due to progressive demyelination....more »
    2170. Hypomyelination and congenital cataract
     An inherited disorder characterized by congenital cataract and progressive neurological impairment due to reduced myelination of nerves....more »
    2171. Hypoparathyroidism X-linked
     Low parathyroid levels inherited in a X-linked manner and hence only males are symptomatic and females are asymptomatic carriers....more »
    2172. Hypoparathyroidism familial isolated
     A rare familial condition involving low levels of parathyroid hormone which upsets the body's ability to regulate calcium and phosphate. The severity of symptoms is determined by the how low the parathyroid hormone level is....more »
    2173. Hypophosphatemia
     Low blood phosphate levels. Causes include malnourishment, chronic alcoholism excessive carbohydrate consumption, malabsorption, phosphaturia, liver failure, respiratory alkalosis and certain genetic disorders....more »
    2174. Hypoplasia of the tibia with polydactyly
     A very rare syndrome characterized mainly by an extra little finger and toe as well as an underdeveloped shin bone....more »
    2175. Hypoplastic thumb -- mullerian aplasia
     A rare disorder characterized by an underdeveloped thumb, vertebral abnormalities and abnormal development or lack of a part of the female reproductive system (uterus, cervix and upper vagina). The external genitalia appear normal and the ovaries usually ...more »
    2176. Hypoplastic thumbs -- hydranencephaly
     A very rare syndrome characterized mainly by underdeveloped thumb and abnormal brain development where the cerebral space is filled with cerebrospinal fluid instead of brain tissue....more »
    2177. Hypospadias -- hypertelorism
     A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females....more »
    2178. Hypotelorism -- cleft palate -- hypospadias
     A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes....more »
    2179. Hypothalamic dysfunction
     Abnormal function of the thalamus located in the brain. The thalamus controls pituitary gland function which in turn controls other hormone producing glands such as the thyroid gland, adrenal gland, ovaries and testes. The thalamus also regulates function...more »
    2180. Hypothalamic hamartomas
     A benign congenital tumor that develops on or near the hypothalamus....more »
    2181. Hypothyroid goitre
     Goitre is the enlargement of the thyroid gland and hypothyroid state is characterized by increased TSH levels and decreased T3 and T4 levels circulating in the body....more »
    2182. Hypothyroidism -- dermoid cyst -- cleft palate
     A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities....more »
    2183. 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 »
    2184. Hypothyroidism postaxial polydactyly mental retardation
     A very rare syndrome characterized by abnormally low thyroid levels, extra digits, mental retardation and unusually facial appearance....more »
    2185. Hypotrichosis, syndactyly and retinal degeneration
     A rare syndrome characterized by reduced hair, syndactyly and retinal degeneration. The hand and finger anomalies are variable....more »
    2186. Hysteria
     Psychological disorder causing physical symptoms...more »
    2187. I cell disease
     A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase)....more »
    2188. IBIDS syndrome
     A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve pho...more »
    2189. Ibuprofen -- Teratogenic Agent
     There is evidence to indicate that exposure to Ibuprofen 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 ...more »
    2190. Ichthyohepatotoxication
     Ichthyohepatotoxication is a condition caused by eating the liver of certain fish. It is believed that the high vitamin A content of the liver leads to vitamin A overdose and the resulting symptoms. Tropical shark livers are associated with this condition...more »
    2191. Ichthyosiform erythroderma, nonbullous congenital
     A rare inherited skin disorder characterized by redness, scaling and ultimately thickening of the skin that occurs from birth. The severity of the condition is variable....more »
    2192. Ichthyosis -- alopecia -- eclabion -- ectropion -- mental retardation
     A very rare syndrome characterized mainly by scaly skin, hair loss, mental retardation and outwardly turned eyelids and lips....more »
    2193. Ichthyosis -- deafness -- mental retardation -- skeletal anomaly
     A rare disorder characterized by deafness, mental retardation, scaly skin and skeletal anomalies....more »
    2194. Ichthyosis -- mental retardation, Devriendt type
     A very rare syndrome characterized mainly by dry, rough, scaly skin and mental retardation....more »
    2195. Ichthyosis Vulgaris
     A skin disorder characterized by dry scaly skin which often forms in areas such as the abdomen, chest, elbows and knees. Cold weather can exacerbate the condition. The condition is usually inherited in a dominant manner but in rare cases it may be acquire...more »
    2196. Ichthyosis and male hypogonadism
     A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads....more »
    2197. Ichthyosis bullosa of Siemens
     A rare inherited form of the genetic skin blistering disorder called ichthyosis bullosa. The condition is characterized by widespread reddening, blistering and peeling of fragile skin that starts at birth. Symptoms tend to improve with age...more »
    2198. Ichthyosis hystrix, Curth Macklin type
     A rare inherited skin disorder involving variable degrees of scaling, thickening and hardening of the skin which can occur anywhere on the body....more »
    2199. Ichthyosis male hypogonadism
     A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads....more »
    2200. Ichthyosis microphthalmos
     A rare genetic disorder characterized by dry scaly skin and small eyes....more »
    2201. Ichthyosis prematurity syndrome
     A very rare syndrome characterized mainly by premature birth with a thick layer of skin that peels to leave dry, scaly, thickened skin....more »
    2202. Ichthyosis tapered fingers midline groove up
     A very rare syndrome characterized by scaly skin and facial and finger anomalies....more »
    2203. Ichthyosis vulgaris, dominant
     A chronic skin condition where dry, rough skin forms in areas such as the abdomen, chest, elbows and knees. The condition usually starts between the ages of 1 and four years and is exacerbated in cold weather....more »
    2204. Ichthyosis vulgaris, sex-linked, recessive
     A genetic skin condition caused by a deficiency of steroid sulfatase and characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The condition on...more »
    2205. Ichythosiform Erythroderma with Leukocyte Vacuolation
     A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms ...more »
    2206. Idaho syndrome
     A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect....more »
    2207. Idiopathic Parkinson's disease
     Idiopathic Parkinson's disease is Parkinson's disease for which no particular cause can be determined - it is the most prevalent form of the condition. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, mu...more »
    2208. Idiopathic diffuse interstitial fibrosis
     A rare lung disease involving progressive inflammation and scarring (fibrosis) of deep lung tissue which can cause shortness of breath. In idiopathic forms of the condition, there is no apparent cause....more »
    2209. Idiopathic edema
     A condition involving salt retention that isn't a result of impaired heart, kidney or liver function....more »
    2210. Idiopathic hypereosinophilic syndrome
     A rare blood disorder where the bone marrow produces too many eosinophils over a long period of time which can cause organ or tissue damage. The disorder can affect and part of the body but most often affects the skin, heart and nervous system. The increa...more »
    2211. Idiopathic minimal change nephrotic syndrome
     A rare kidney disorder which has no apparent cause. The filtering structures of the kidneys are only slightly damaged and appear to be almost normal. Progression to kidney failure is very rare....more »
    2212. Idiopathic myopathy
     A rare condition involving inflammation of the skeletal muscles which become weak and wasted....more »
    2213. Idiopathic pulmonary hemosiderosis
     A rare disorder involving bleeding into the lungs which can eventually cause damage to the lungs....more »
    2214. Idiopathic pulmonary hypertension
     A rare condition where sclerosis of the pulmonary arteries cause cyanosis, polycythemia and heart failure....more »
    2215. Iida-Kannari syndrome
     A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones....more »
    2216. Immunoglobulinic amyloidosis
     A disease characterized by the abnormal deposit of amyloid in various parts of the body, especially organs such as the kidneys, heart, liver, gastrointestinal tract and peripheral nerves. It occurs when plasma cells in the bone marrow produce too much of ...more »
    2217. Impossible syndrome
     A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth....more »
    2218. Inborn amino acid metabolism disorder
     A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There ar...more »
    2219. 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 »
    2220. Inclusion Body Myositis
     Progressive inflammatory muscle disease causing muscle weakness....more »
    2221. Incontinentia Pigmenti
     A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency....more »
    2222. Infant Cytomegalic virus
     A serious CMV viral infection in newborns....more »
    2223. Infantile hypothyroidism
     A condition in infancy or early childhood due to an in-utero deficiency of thyroid hormones that can be caused by genetic or environmental factors, such as thyroid dysgenesis or hypothyroidism in infants of mothers treated with thiouracil during pregnancy...more »
    2224. Infantile multisystem inflammatory disease
     A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis....more »
    2225. Infantile spasms -- broad thumbs
     A very rare syndrome characterized mainly by spasms during infancy and broad thumbs....more »
    2226. Inflammatory Glaucoma
     It is a condition with self-limited recurrent episodes of markedly elevated intraocular pressure (IOP) with mild idiopathic anterior chamber inflammation. It is most often classified as secondary inflammatory glaucoma....more »
    2227. Inflammatory breast cancer
     Inflammatory breast cancer is a rare and aggressive form of invasive breast cancer, where the skin of the breast becomes red, inflamed and pitted in appearance....more »
    2228. Ingrown nails
     Inward growth of finger-nails or toe-nails....more »
    2229. Inherited Hemolytic-Uremic Syndrome
     A condition which is characterized by thrombotic microangiography occurring with renal failure, hemolytic anemia and severe thrombocytopenia...more »
    2230. Inherited spherocytic anemia
     Inherited Spherocytic anemia is an inherited blood disorder characterized by red blood cells that are shaped like a sphere (spherocytes) rather than the normal doughnut shape. These abnormal cells are broken down prematurely resulting in a shortage of red...more »
    2231. Injury
     Any damage inflicted in the body...more »
    2232. Insulinoma
     A rare form of pancreatic cancer that causes excessive secretion of the hormone insulin. A relatively small number of cases are malignant....more »
    2233. Intellectual deficit -- cataracts -- calcified pinnae -- myopathy
     A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles....more »
    2234. Intellectual deficit -- multiple anomalies
     A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance....more »
    2235. Intracranial aneurysms -- multiple congenital anomaly
     A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities....more »
    2236. Intracranial arachnoid cysts
     A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the brain. The type and severity of symptoms is determined by the size and location of the cyst....more »
    2237. Intracranial germ cell tumour
     A brain tumor that arises from germ (sex) cells. This type of tumor tends to occur in patients under the age of 30, usually in the second decade. Symptoms depend on the size, exact location and rate of growth of the tumor....more »
    2238. Intraocular hemorrhage
     Bleeding in the eye, most commonly in the anterior chamber....more »
    2239. Intraocular melanoma
     A type of cancer that develops from pigment producing cells in the eye. The cancer can occur in the iris, choroids or ciliary body. The melanoma may metastasize in some cases. The condition is often asymptomatic....more »
    2240. Intrapartum Eclampsia
     Intrapartum eclampsia is the development of seizures or coma in pregnant women suffering from high blood pressure. Intrapartum means that it occurs during the delivery of the baby. Eclampsia is a serious condition which requires urgent medical treatment. ...more »
    2241. Intrauterine infections
     Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a mi...more »
    2242. Invasive breast cancer
     Invasive breast cancers usually are epithelial tumors of ductal or lobular origin. Features such as size, status of surgical margin, estrogen receptors (ER) and progesterone receptors (PR), nuclear and histologic grade, DNA content, S-phase fraction, vasc...more »
    2243. Iodinated glycerol -- Teratogenic Agent
     There is evidence to indicate that exposure to Iodinated glycerol 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 »
    2244. Iridocorneal Endothelial Syndrome
     ICE syndrome is a spectrum of conditions of the eye, where the inner layer of the cornea appears abnormal. It includes Cogan-Reese syndrome, Chandler's syndrome, and progressive iris atrophy....more »
    2245. Iridocyclitis
     Inflammation of the iris and ciliary body (just behind the iris) of the eye....more »
    2246. Iridogoniodysgenesis type1
     A rare genetic eye disorder involving glaucoma and iris anomalies and resulting in vision loss....more »
    2247. Iris hypoplasia and glaucoma
     A rare disorder characterized by glaucoma and underdeveloped iris....more »
    2248. Iritis
     Inflammation of the iris and anterior chamber of the eye....more »
    2249. Iron deficiency anemia
     Iron-deficiency anemia is a blood condition characterized by low levels of iron in the body which leads to a reduction in the number of red blood cells....more »
    2250. Irritant contact eczema
     Irritant contact eczema is a form of eczema that occurs when an irritating substance comes into direct contact with the skin. Eczema is a type of skin inflammation or irritation that manifests as a skin rash. This form of eczema often occurs in occupation...more »
    2251. Ischiadic hypoplasia -- renal dysfunction -- immunodeficiency
     A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped...more »
    2252. Isolated systolic hypertension
     Isolated systolic hypertension is an increase in the top number (>140mm Hg) of blood pressure readings. This type of hypertension is more common in older people. Smoking, age, diabetes and obesity are risk factors for this condition....more »
    2253. Isoniazid -- Teratogenic Agent
     There is evidence to indicate that exposure to Isoniazid 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 ...more »
    2254. Isoniazid-induced Sideroblastic anemia
     Drug-induced sideroblastic anemia is a blood disorder caused by taking a drug called isoniazid. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which mak...more »
    2255. Ivemark Syndrome
     A rare progressive disorder characterized by absence or abnormal development of the spleen and malformations of the heart vessels....more »
    2256. Ives-Houston syndrome
     A rare inherited syndrome characterized by retarded fetal growth, small head, malformed limbs and death before or soon after birth....more »
    2257. Jackson-Weiss Syndrome
     A rare inherited disorder involving bone abnormalities such as fusion of upper foot bones and premature fusion of skull bones which prevents the skull from growing normally. Symptoms can range from mild to severe....more »
    2258. Jacobs syndrome
     A very rare syndrome characterized mainly by heart inflammation (pericardium), joint disease and permanent finger flexion. The number of joints affected is variable....more »
    2259. Jacobsen syndrome
     A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted....more »
    2260. Jadassohn-Lewandowsky syndrome
     A rare, inherited disorder characterized by thickening of nails, white patches on mouth and anus(leukoplakia) and thickened hard skin on soles and palms....more »
    2261. Jaffer-Beighton syndrome
     A rare inherited syndrome characterized by loose joints, slipped vertebrae and long, thin fingers....more »
    2262. Jansen type metaphyseal chondrodysplasia
     A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities....more »
    2263. Jensen syndrome
     A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive c...more »
    2264. Jeune syndrome
     A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation....more »
    2265. Jimsonweed poisoning
     The Jimsonweed is a herb that bears single large white or lavender flowers and seeds surrounded by a spiny shell. The plant contains tropane alkaloids (mainly the seeds and leaves) which can cause symptoms if eaten in large quantities....more »
    2266. Jin Bu Huan-induced lead poisoning
     Jin Bu Huan is a folk remedy used mainly by Chinese people to treat pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies...more »
    2267. Johanson-Blizzard Syndrome
     A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness....more »
    2268. Johnson-Hall-Krous syndrome
     A rare congenital disorder characterized by cataracts, cleft palate, high nose bridge, extra finger and tongue abnormalities....more »
    2269. Joint injury -- finger
     An injury to the finger joints. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A finger joint injury can involve damage to the bones, ligaments or other tissues of the joint. The injury ...more »
    2270. Joint injury -- wrist
     An injury to the wrist which is the joint between the hand and lower leg. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A wrist injury can involve damage to the bones, ligaments or othe...more »
    2271. Jones-Hersh-Yusk syndrome
     A rare congenital disorder characterized by missing toes, cleft palate, blistered skin and absent patches of skin at birth....more »
    2272. Jorgenson syndrome
     A rare inherited syndrome characterized by hair, teeth and skin abnormalities. The hair may be normal at birth but becomes sparse by the second decade....more »
    2273. Joubert Syndrome
     A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance....more »
    2274. Joubert Syndrome 1
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2275. Joubert Syndrome 10
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2276. Joubert Syndrome 2
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2277. Joubert Syndrome 3
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2278. Joubert Syndrome 4
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2279. Joubert Syndrome 5
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2280. Joubert Syndrome 6
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2281. Joubert Syndrome 7
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2282. Joubert Syndrome 8
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2283. Joubert Syndrome 9
     Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurolo...more »
    2284. Judge-Misch-Wright syndrome
     A very rare syndrome characterized mainly by thickened skin on palms and soles as well as around the mouth....more »
    2285. 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 »
    2286. Jung-Wolff-Back-Stahl syndrome
     A very rare syndrome characterized mainly by brain abnormalities, mental retardation and facial and skull anomalies....more »
    2287. Jussieu syndrome
     A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present....more »
    2288. Juvenile Myasthenia Gravis
     Myasthenia gravis is a chronic neuromuscular disease which results from autoimmune dysfunction. Juvenile myasthenia gravis also has autoimmune origins and tends to develop during childhood. Symptoms tend to become worse during the day with activity and im...more »
    2289. Juvenile Retinoschisis
     An inherited eye condition where degenerative changes in the eye causes the retina to split. The severity and age of onset of symptoms can vary....more »
    2290. Juvenile Scleroderma
     Scleroderma that occurs in children. Scleroderma is a connective tissue disease that can affect the skin, blood vessels, the immune system and sometimes even the organs may be involved. The disorder may be localized or affect large areas of the body....more »
    2291. Juvenile idiopathic arthritis
     A group of chronic inflammatory joint disorders that affects children. The condition generally involves periods of time where the condition is active followed by periods of abatement of symptoms. In some cases, the condition can be systemic and can cause ...more »
    2292. Juvenile macular degeneration and hypotrichosis
     A very rare syndrome characterized mainly by hair loss and eye degeneration....more »
    2293. Juvenile macular degeneration, hypotrichosis
     A very rare syndrome characterized mainly by hair loss and eye degeneration....more »
    2294. Juvenile pilocytic astrocytoma
     A type of brain tumor that occurs in children and young adults. The tumor is derived from a type of cell called an astrocyte and it can occur in various parts of the brain as well as the optic pathways and the spinal cord. Malignancy is rare. Symptoms may...more »
    2295. KBG Syndrome
     A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones....more »
    2296. Kabuki syndrome
     A rare genetic disorder characterized by distinctive facial features....more »
    2297. Kahrizi Syndrome
     A rare syndrome and characterized by the association of mental retardation, cataracts, coloboma and kyphosis. The condition is inherited in an autosomal recessive manner and was observed in 3 siblings whose parents were possibly related....more »
    2298. Kallmann Syndrome
     A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance....more »
    2299. Kallmann Syndrome 5
     A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. The symptoms and their severity ma...more »
    2300. Kallmann Syndrome 6
     A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. The symptoms and their severity ma...more »
    2301. Kallmann syndrome, type 1, X-linked
     A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 1 is caused by a genetic defect located at ...more »
    2302. Kandu-induced lead poisoning
     Kandu (red powder) is a folk remedy used mainly by Asian and Indian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of...more »
    2303. Kanzaki disease
     A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder ...more »
    2304. Kaplan-Plauchu-Fitch syndrome
     A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities....more »
    2305. Karandikar-Maria-Kamble syndrome
     A very rare syndrome characterized mainly by cataracts, mental retardation, genitourinary tract abnormalities and absent anal opening....more »
    2306. Karsch-Neugenbauer syndrome
     A rare genetic disorder characterized by a split hand deformity, cataracts and rapid involuntary eye movements....more »
    2307. Kawanism
     Kava can be used as a herbal agent to treat anxiety, restlessness, stress and sleeping problems due to anxiety. The herbal agent contains chemicals including alpha-pyrone which can cause various symptoms if it is taken for long periods of time....more »
    2308. Kawasaki disease
     A childhood illness that generally affects the skin, mouth and lymph nodes....more »
    2309. Kenny-Caffey syndrome, Type 1
     A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities. Type 1 is inherited in a recessive manner and is caused by a genetic defect located at chromosome 1q42-q43....more »
    2310. Kenny-Caffey syndrome, Type 2
     A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities....more »
    2311. Keratitis Ichthyosis Deafness Syndrome
     A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of ...more »
    2312. Keratitis fugax hereditaria
     An inherited eye disorder involving recurring corneal inflammation. The number of attacks is variable with anywhere from 2 to even 8 or more episodes occurring each year. The attacks become less severe and less frequent after the age of 50. Symptoms can p...more »
    2313.