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Symptom Checker » Anteverted nostrils » Hand symptoms
 

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

Results: 4255 causes of Anteverted nostrils OR Hand symptoms OR Infant symptoms OR Long thin fingers OR Skin texture changes OR Tooth deformity

    1. +r(1) and +r(16)
     A very rare chromosomal disorder where some of the body's cells has extra ring chromosomes of chromosome 1 and chromosome 16....more »
    2. 10q Partial Trisomy
     A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary consider...more »
    3. 14q+ syndrome
     A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities....more »
    4. 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 »
    5. 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 »
    6. 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 »
    7. 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 »
    8. 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 »
    9. 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 »
    10. 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 »
    11. 2p21 deletion syndrome
     This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial...more »
    12. 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 »
    13. 3-Hydroxyisobutyric aciduria
     A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems....more »
    14. 3-M 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 »
    15. 3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency
     A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activit...more »
    16. 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency
     A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activit...more »
    17. 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency
     A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable....more »
    18. 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 »
    19. 3-methylglutaconic aciduria, type V
     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....more »
    20. 3C syndrome
     A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name....more »
    21. 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 »
    22. 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 »
    23. 46,XX testicular DSD
     A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY....more »
    24. 46,XX testicular disorder of sex development
     A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY....more »
    25. 47 XYY syndrome
     A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asympt...more »
    26. 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 »
    27. 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 »
    28. 49,XXXXY syndrome
     A rare sex chromosome abnormality where there are three extra copies of the X chromosome....more »
    29. 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 »
    30. 8p-Syndrome, partial
     A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted....more »
    31. ACAD8 deficiency
     An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and s...more »
    32. ACE Inhibitors -- Teratogenic Agent
     There is strong evidence to indicate that the use of ACE Inhibitors during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level ...more »
    33. ACPS III
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    34. ACTH resistance
     A rare inherited genetic disorder characterized by adrenal insufficiency due to the adrenal gland's inability to respond to ACTH and hence produce the hormone called cortisol....more »
    35. ADHD
     Attention Deficit Hyperactivity Disorder (ADHD) is a mental and behavioral disorder characterized by behavioral problems such as hyperactivity, inattention, concentration difficulty, and other mental symptoms. Typically, ADHD and associated hyperac...more »
    36. ADULT syndrome
     A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities....more »
    37. AIDS dysmorphic syndrome
     A rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage....more »
    38. AREDYLD
     A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes....more »
    39. ARTS syndrome
     A rare lethal syndrome characterized by deafness, optic atrophy and ataxia....more »
    40. ATR-X syndrome
     A rare X-linked disorder that affects males and is characterized by mental retardation and alpha thalassemia....more »
    41. ATRUS syndrome
     A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder....more »
    42. Aarskog Syndrome
     A rare genetic condition characterized by facial, hand, genital and growth abnormalities....more »
    43. Abderhalden-Kaufmann-Lignac syndrome
     A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea....more »
    44. Abdominal Aneurysm
     Dilatation of a section of the abdominal aorta, usually due to a weakness in the wall of the artery...more »
    45. Abidi X-linked mental retardation syndrome
     A rare genetic disorder characterized by a number of physical abnormalities...more »
    46. Ablepharon macrostomia syndrome
     A rare disorder involving a number of mainly physical abnormalities....more »
    47. Abruzzo Erickson syndrome
     A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness....more »
    48. 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 »
    49. 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 »
    50. Absent corpus callosum -- cataract -- immunodeficiency
     A rare syndrome characterized by immunodeficiency, cleft lip or palate, cataract, reduced pigmentation and brain abnormalities....more »
    51. 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 »
    52. Abuse dwarfism syndrome
     Retarded growth, intelligence and social behavior due to child abuse. The child abuse can take the form of mental or physical cruelty or neglect....more »
    53. 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 »
    54. 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 »
    55. 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 »
    56. 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 »
    57. 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 »
    58. 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 »
    59. 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 »
    60. 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 »
    61. Achondrogenesis type 2
     A rare genetic disorder characterized by very small stature, abnormal bone formation and early death....more »
    62. Achondrogenesis, type 3
     Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II....more »
    63. Achondroplasia
     A disorder characterized by problems with bone growth....more »
    64. 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 »
    65. 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 »
    66. Ackerman syndrome
     An extremely rare condition characterized primarily by glaucoma, upper lip deformity and abnormal tooth roots....more »
    67. 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 »
    68. Acro coxo mesomelic dysplasia
     A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs....more »
    69. 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 »
    70. Acro-reno-ocular syndrome
     A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones....more »
    71. 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 »
    72. Acrocapitofemoral dysplasia
     A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips....more »
    73. Acrocephalopolydactyly
     A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present....more »
    74. Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    75. Acrocephalopolydactyly II
     A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation....more »
    76. Acrocephalopolysyndactyly type III
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    77. 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 »
    78. 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 »
    79. 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 »
    80. Acrocephalosyndactyly type 3 (ACPS 3)
     A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalit...more »
    81. 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 »
    82. Acrocyanosis
     An uncommon disorder of blood vessels, causing cold, pale skin....more »
    83. Acrodermatitis, persistent
     A rare chronic skin condition characterized by the eruption of pustules that usually occur on the ends of fingers...more »
    84. Acrodysostosis
     A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities....more »
    85. Acrodysplasia scoliosis
     A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies....more »
    86. Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
     A rare inherited disorder characterized by short stature, underdeveloped calf bones and abnormalities of the hand and foot bones....more »
    87. Acrofacial dysostosis Catania form
     One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare....more »
    88. Acrofacial dysostosis Preis type
     One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable....more »
    89. 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 »
    90. Acrofacial dysostosis atypical postaxial
     A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features....more »
    91. Acrofacial dysostosis autosomal recessive
     A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome....more »
    92. 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 »
    93. Acrofacial dysostosis, Nager type
     A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects....more »
    94. 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 »
    95. Acrofacial dysostosis, Weyers type
     A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs....more »
    96. 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 »
    97. Acrogeria (Gottron Type)
     An extremely rare, mild form of progeria....more »
    98. 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 »
    99. 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 »
    100. Acromegaloid facies -- hypertrichosis
     A very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency....more »
    101. Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome
     A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma....more »
    102. Acromesomelic dysplasia
     A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis....more »
    103. Acromesomelic dysplasia Brahimi Bacha type
     A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones....more »
    104. Acromesomelic dysplasia Campailla Martinelli type
     A form of dwarfism where the main shortening occurs in the lower legs and arms....more »
    105. Acromesomelic dysplasia Hunter Thompson type
     A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones....more »
    106. Acromesomelic dysplasia, Maroteaux type
     A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies....more »
    107. Acroosteolysis dominant type
     A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes....more »
    108. 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 »
    109. 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 »
    110. 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 »
    111. Acropectorovertebral dysplasia
     A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones....more »
    112. Acrorenal mandibular syndrome
     A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw....more »
    113. Acrorenal syndrome recessive
     A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities....more »
    114. Actinic keratosis
     Scaling of the skin condition usually from sunlight...more »
    115. Acutane embryopathy
     A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects....more »
    116. Acute meningitis
     Acute meningitis is an inflammation of the brain that presents in an acute fashion. The inflammation may be the result of infective agents such as bacteria, viruses and fungi as well as non-infective agents such as certain drugs. Acute forms of meningitis...more »
    117. Acyl-CoA dehydrogenase, short chain, deficiency of
     A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic ...more »
    118. 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 »
    119. 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 »
    120. 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 »
    121. 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 »
    122. Adducted thumbs Dundar type
     A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies....more »
    123. 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 »
    124. Adenylosuccinate lyase deficiency
     A rare inherited disorder characterized by a deficiency of the enzyme called adenlyosuccinate lyase which generally results in psychomotor retardation and autistic behavior....more »
    125. 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 »
    126. Adrenal Cortex Diseases
     Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue....more »
    127. 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 »
    128. 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 »
    129. 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 »
    130. Adrenal hyperplasia, congenital type 3
     A group of disorders that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The severity of the condition is variable depending on the degree of deficiency....more »
    131. Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency
     A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may ran...more »
    132. Adrenal hypoplasia congenital, X-linked
     A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism....more »
    133. 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 »
    134. Adrenocortical carcinoma
     A condition which is characterized by malignancy which affects the adrenocortex....more »
    135. 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 »
    136. 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 »
    137. Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis
     A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis....more »
    138. Agammaglobulinemia, microcephaly, and severe dermatitis
     A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis....more »
    139. Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia
     A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly....more »
    140. Aging
     The medical conditions from getting older....more »
    141. 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 »
    142. 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 »
    143. 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 »
    144. Akaba-Hayasaka syndrome
     A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs....more »
    145. Akesson syndrome
     A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop....more »
    146. Al Awadi syndrome
     A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis....more »
    147. 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 »
    148. Al Gazali -- Nair syndrome
     A very rare syndrome characterized by bone abnormalities, eye problems, seizures and developmental delay. The reported cases involved related parents....more »
    149. Al Gazali Aziz Salem syndrome
     A rare syndrome characterized mainly by heart disease, short stature and a webbed neck....more »
    150. Al Gazali Sabrinathan Nair syndrome
     A very rare syndrome characterized by bone and eye problems, seizures and mental retardation....more »
    151. Al Gazali-Khidr-Prem Chandran
     A very rare syndrome characterized mainly by short stature, eye problems and an unusual cherubic facial appearance....more »
    152. Al Gazali-Khidr-Prem Chandran syndrome
    153. 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 »
    154. Alagille Syndrome
     A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver....more »
    155. 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 »
    156. 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 »
    157. 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 »
    158. Albers-Schonberg disease -- malignant recessive 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 malignant infantile form is the most severe form of this disorder and death usually occurs...more »
    159. Albright like syndrome
     A rare disorder characterized by mental retardation, short stature and finger and toe abnormalities....more »
    160. 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 »
    161. 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 »
    162. Alcohol -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Alcohol 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 expo...more »
    163. Alcohol Withdrawal
     Symptoms that occur when alcohol consumption is discontinued or reduced. Symptoms may vary depending on the level of dependence....more »
    164. Alcohol antenatal infection
    165. Allain Babin Demarquez syndrome
     A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension....more »
    166. Alopecia -- hypogonadism -- extrapyramidal disorder
     A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty....more »
    167. Alopecia -- macular degeneration -- growth retardation
     A rare syndrome characterized mainly by repeated loss of hair, retarded growth and degeneration of the macula of the eye....more »
    168. Alopecia congenita keratosis palmoplantaris
     An extremely rare condition characterized by thickening of skin on the palms and soles and lack of hair....more »
    169. Alopecia mental retardation syndrome
     A rare syndrome characterized primarily by a lack of hair and mental retardation....more »
    170. Alopecia-contractures-dwarfism-mental retardation
     A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures....more »
    171. Alpers Syndrome
     A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation....more »
    172. Alpha thalassemia -- Hemoglobin H disease
     Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Hemoglobin H disease involves defects in three of the four genes required to make each ? pr...more »
    173. Alpha thalassemia major
     Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia major is very rare involves defects in all of the four genes required to ...more »
    174. Alpha-ketoglutarate dehydrogenase deficiency
     A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms....more »
    175. Alsing syndrome
     A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye....more »
    176. Alveolitis, extrinsic allergic
     A lung disease that tends to occur in people with jobs where they are frequently exposed to organic dust inhalation....more »
    177. Alves Castelo dos Santos syndrome
     A rare syndrome characterized by hair, eye, skin and spinal abnormalities....more »
    178. Alzheimer disease 10
     An inherited form of Alzheimer's. Type 10 is caused by a genetic defect on chromosome 10p13....more »
    179. Alzheimer disease 12
     An inherited form of Alzheimer's. Type 12 is caused by a genetic defect on chromosome 8p12-q22....more »
    180. Alzheimer disease 13
     An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality a...more »
    181. Alzheimer disease 14
     An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q25. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality a...more »
    182. Alzheimer disease 15
     An inherited form of Alzheimer's disease that is linked to a defect on chromosome 3q22-q24. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personali...more »
    183. Alzheimer disease 16
     Alzheimer disease 16 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome Xq21.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thi...more »
    184. Alzheimer disease 2, late-onset
     Alzheimer disease 2 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome 19q13.2. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thi...more »
    185. Alzheimer disease 3, (early-onset Alzheimer disease)
     Alzheimer disease 3 is an early-onset form of Alzheimer's disease that is linked to a defect on chromosome 14q24.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thi...more »
    186. Alzheimer disease 5
     An inherited form of Alzheimer's. Type 5 has a late onset and is caused by a genetic defect on chromosome 12p11....more »
    187. Alzheimer disease 6
     A genetic form of Alzheimer's. Type 6 has a late onset and is caused by a genetic defect on chromosome 10q24....more »
    188. Alzheimer disease 7
     An inherited form of Alzheimer's. Type 7 is caused by a genetic defect on chromosome 10p13....more »
    189. Alzheimer disease 8
     An inherited form of Alzheimer's. Type 8 is caused by a genetic defect on chromosome 20p....more »
    190. Alzheimer disease 9
     A genetic form of Alzheimer's. Type 9 has a late onset and is caused by a genetic defect on chromosome 19p13.2....more »
    191. Alzheimer disease, early-onset, with cerebral amyloid angiopathy
     An early-onset form of Alzheimer's disease that is linked to a defect on chromosome 21q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personalit...more »
    192. Alzheimer disease, familial, 1
     An inherited form of Alzheimer's disease that is linked to a defect on chromosome 21q. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality an...more »
    193. Alzheimer disease, familial, 11
     An inherited form of Alzheimer's disease that is linked to a defect on chromosome 9p22.1. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality...more »
    194. Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
     This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia...more »
    195. Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques
     This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual...more »
    196. Alzheimer disease, familial, 4
     An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q31-q42. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personali...more »
    197. Alzheimer's Disease
     Dementia-causing brain disease mostly in seniors and the elderly....more »
    198. 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 »
    199. Amelo-cerebro-hypohidrotic syndrome
     A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development....more »
    200. Amelo-onycho-hypohidrotic syndrome
     A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability....more »
    201. Amiloride -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amiloride 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 »
    202. Aminoacidopathies
     Any of a group of inborn errors of metabolism which results in the build up in the body of one or more amino acids in the blood and/or urine. The range and severity of symptoms is hugely variable....more »
    203. 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 »
    204. Amish brittle hair syndrome
     A rare inherited condition characterized by brittle hair, mental and physical impairment, decreased fertility and short stature....more »
    205. 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 »
    206. 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 »
    207. 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 »
    208. 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 »
    209. 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 »
    210. 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 »
    211. Ampola syndrome
     A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities....more »
    212. 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 »
    213. Amyloidosis, familial cutaneous
     Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. The familial cutaneous form is characterized by brown skin pigmentation as well as systemic symptoms such as failure to thrive, developmental delay, gast...more »
    214. Amyoplasia congenital disruptive sequence
     A rare genetic disorder characterized by congenital contractures of two or more different joints....more »
    215. Amyotrophic lateral sclerosis
     A motor neuron disease involving progressive degeneration and eventual destruction of the function of nerves that control voluntary movement....more »
    216. Amyotrophic lateral sclerosis type 1
    217. Amyotrophic lateral sclerosis, familial
    218. 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 »
    219. 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 »
    220. 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 »
    221. 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 »
    222. 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 »
    223. 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 »
    224. 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 »
    225. 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 »
    226. 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 »
    227. Anaphylaxis
     A rare, potentially life-threatening allergic reaction....more »
    228. Andersen-Tawil syndrome
     A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium....more »
    229. Androgen Insensitivity Syndrome
     Females with male XY genetics but inability to respond to testosterone....more »
    230. Anemia
     Reduced ability of blood to carry oxygen from various possible causes....more »
    231. Anemia of pregnancy
     Anemia of pregnancy is anemia that occurs during pregnancy. Women's bodies have a greater demand for iron during pregnancy and if intake is not sufficient, anemia can result. Anemia in pregnant women can lead to infant problems such as premature birth, fe...more »
    232. Anemia, Blackfan Diamond
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    233. 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 »
    234. 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 »
    235. 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 »
    236. Angelman syndrome
     A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features....more »
    237. 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 »
    238. Angiofollicular ganglionic hyperplasia
     A rare disorder characterized by a localized overgrowth of lymph node tissue which can form a benign tumor-like growth. The symptoms are determined by the location and number of growths. There are two types of the disease: hyaline-vascular type or the pla...more »
    239. Angiokeratoma -- mental retardation -- coarse face
     A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas....more »
    240. Aniridia -- renal agenesis -- psychomotor retardation
     A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation....more »
    241. Ankle defects short stature
     A rare disorder characterized mainly by ankle defects and short stature...more »
    242. Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome
     A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs....more »
    243. 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 »
    244. Annular pancreas
     An abnormality where a ring of pancreatic tissue forms around the duodenum and can block the flow of food through the digestive system. The severity of symptoms depends on the degree of constriction. Partial obstruction may not be detected until adulthood...more »
    245. 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 »
    246. Anonychia -- microcephaly
     A very rare syndrome characterized by the absence of nails and a small head....more »
    247. Anonychia -- onychodystrophy
     A rare birth malformation characterized by absent nails and dystrophic nails....more »
    248. 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 »
    249. 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 »
    250. Anophthalmia -- hand and foot defects -- mental retardation
     A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes....more »
    251. Anophthalmia -- hypothalamo-pituitary insufficiency
     A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland....more »
    252. Anophthalmia -- hypyothalamo-pituitary insufficiency
     A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland....more »
    253. 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 »
    254. Anophthalmia -- short stature -- obesity
     A very rare syndrome characterized by absent eyes, short stature and obesity....more »
    255. Anorexia Nervosa
     A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases....more »
    256. 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 »
    257. 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 »
    258. Antiphospholipid syndrome
     An autoimmune disorder characterized by blood clots and pregnancy losses....more »
    259. 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 »
    260. Antley-Bixler Syndrome
     A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities....more »
    261. 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 »
    262. Anxiety, separation
     A term used when children become upset when they are separated from a parent or carer. The situation is most commonly witnessed when children are taken to day care. Other situations include when the child is left with a baby sitter or made to sleep on his...more »
    263. Aortic arch interruption
     A rare genetic birth defect where a portion of the aortic arch is missing or discontinued which severely impairs the flow of oxygenated blood to the lower body....more »
    264. Aortic supravalvular stenosis
     A rare congenital condition involving increased intestinal calcium absorption and characterized by development delay, distinctive facial features, small nails and short stature....more »
    265. Apelt-Gerkin-Lenz Syndrome
     A rare inherited syndrome characterized by clefting of the lip and palate as well as the absence of variable portions of all of the limbs....more »
    266. 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 »
    267. Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis
     A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs....more »
    268. Aphasia
     Language difficulty usually from brain damage or stroke....more »
    269. Aplasia cutis congenital -- intestinal lymphangiectasia
     A rare disorder characterized by a skin defect and dilated intestinal lymph vessels....more »
    270. 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 »
    271. Apparent Mineralocorticoid Excess, type 2
     A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid...more »
    272. Apparent mineralocorticoid excess
     A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol....more »
    273. Apraxia, oculomotor, Cogan type
     A rare inherited condition where the person is unable to move eyes horizontally making it difficult to follow objects....more »
    274. Arachnodactyly -- Intellectual Deficit -- Dysmorphism
     A rare condition characterized by long thin digits, reduced intelligence characteristic facial appearance....more »
    275. 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 »
    276. Arachnodactyly -- mental retardation -- dysmorphism
     A very rare syndrome characterized by mental retardation, unusual facial features and long, thin fingers and toes....more »
    277. 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 »
    278. Arakawa's syndrome 2
     An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms....more »
    279. Arginine-glycine amidinotransferase deficiency
     A rare enzyme deficiency which manifests as mental retardation, developmental delay and speech problemss...more »
    280. Arima syndrome
     A rare disorder characterized mainly by eye and brain abnormalities....more »
    281. Armendares syndrome
     A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities....more »
    282. Arnold Stickler Bourne syndrome
     A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals....more »
    283. Arnold-Chiari malformation type 4
     Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death ofte...more »
    284. Aromatic amino acid decarboxylase deficiency
     A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests...more »
    285. 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 »
    286. 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 »
    287. Arthritis -- short stature -- deafness
     A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities....more »
    288. 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 »
    289. Arthrogryposis -- hyperkeratosis, lethal form
    290. Arthrogryposis -- ophthalmoplegia -- retinopathy
     A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems....more »
    291. 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 »
    292. Arthrogryposis IUGR thoracic dystrophy
     A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities....more »
    293. Arthrogryposis distal type II
     A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects....more »
    294. 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 »
    295. 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 »
    296. Arthrogryposis multiplex congenita type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    297. 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 »
    298. 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 »
    299. 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 »
    300. Arthrogryposis, distal, type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    301. Arthrogryposis, distal, type 2E
     A rare syndrome characterized by contractures of the fingers and jaw....more »
    302. 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 »
    303. Arthrogryposis-like hand anomaly -- sensorineural deafness
     A rare disorder characterized by hand contractures and deafness....more »
    304. Arthropathy, progressive pseudorheumatoid, of childhood
     A form of progressive rheumatoid arthritis that affects children....more »
    305. Asbestos conditions
     Medical conditions caused be exposure to asbestos dust...more »
    306. Aspartylglucosaminidase deficiency
     A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation bec...more »
    307. Aspartylglycosaminuria
     A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation bec...more »
    308. Asperger Syndrome, Susceptibility to, 1
     Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Re...more »
    309. Asperger Syndrome, Susceptibility to, 2
     Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Re...more »
    310. Asperger Syndrome, Susceptibility to, 3
     Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Re...more »
    311. Asperger Syndrome, X-linked, Susceptibility to, 1
     Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Re...more »
    312. Asperger Syndrome, X-linked, Susceptibility to, 2
     Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Re...more »
    313. Asperger syndrome
     A neuropsychiatric disorder mainly involving the inability to understand and becoming involved in social interaction....more »
    314. 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 »
    315. 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 »
    316. Aspirin -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Aspirin 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 expo...more »
    317. 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 »
    318. Asthma in pregnancy
     Asthma in pregnancy refers to inflammation and constriction of the airways that is occurs during pregnancy. Women who are pregnancy may decide to stop taking their asthma medication in order to reduce the perceived risk of side effects to the developing f...more »
    319. Asymmetric short stature syndrome
     A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies....more »
    320. 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 »
    321. Ataxia -- diabetes -- goiter -- gonadal insufficiency
     A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia....more »
    322. 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 »
    323. Ataxia Telangiectasia
     A rare inherited childhood disorder involving progressive degeneration of the nervous system....more »
    324. 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 »
    325. Atelosteogenesis Type III
     A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III....more »
    326. Atelosteogenesis, type 2
     A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities....more »
    327. Atenolol -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Atenolol 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 »
    328. Athabaskan brainstem dysgenesis
     A rare neurological disorder caused by abnormal brainstem development and function....more »
    329. Athabaskan severe combined immunodeficiency
     A severe immunodeficiency disorder found in Navajo and Apache populations....more »
    330. Athlete's foot
     Fungal skin condition typically of feet or toes....more »
    331. Athyrotic hypothyroidism sequence
     A rare congenital disorder characterized by a thyroid gland defect....more »
    332. Atkin-Flatiz syndrome
     A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies....more »
    333. Atransferrinemia
     A rare inherited condition characterized by the absence of a compound called transferring which results in a buildup of iron in the body's tissues as well as anemia....more »
    334. Atrial Septal Defect 3
     A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the de...more »
    335. Atrial Septal Defect 4
     A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the de...more »
    336. Atrial Septal Defect 5
     A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the de...more »
    337. Atrial Septal Defect 6
     A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the de...more »
    338. 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 »
    339. Atrial septal defect 1
     A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the de...more »
    340. Atrial septal defect 2
     A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the de...more »
    341. Atrichia -- mental and growth delay
     A rare syndrome characterized mainly by mental retardation, growth delay and the absence of hair....more »
    342. 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 »
    343. Atypical pyridoxine-dependent seizures
     A form of epilepsy which responds to anticonvulsant therapy for only a period of time but are able to be managed by pyridoxine supplementation after a few months. Seizures may disappear for a few months even after pyridoxine supplementation is ceased....more »
    344. Auditory Processing Disorder
     Failure of the brain to correctly process sound....more »
    345. Auditory perceptual disorder
     A hearing disorder where the brain is unable to properly process or interpret auditory information it receives from the hearing organs....more »
    346. Aural atresia -- multiple congenital anomalies -- mental retardation
     A rare syndrome characterized by a number of malformations as well as mental retardation....more »
    347. 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 »
    348. Autism
     Childhood mental condition with social and communication difficulties....more »
    349. Autism, Susceptibility to, 15
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    350. Autism, X-linked, susceptibility to, 1
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    351. Autism, X-linked, susceptibility to, 2
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    352. Autism, X-linked, susceptibility to, 3
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    353. Autism, susceptibility to, 1
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    354. Autism, susceptibility to, 10
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    355. Autism, susceptibility to, 11
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    356. Autism, susceptibility to, 12
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    357. Autism, susceptibility to, 13
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    358. Autism, susceptibility to, 14
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    359. Autism, susceptibility to, 3
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    360. Autism, susceptibility to, 4
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    361. Autism, susceptibility to, 5
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    362. Autism, susceptibility to, 6
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    363. Autism, susceptibility to, 7
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    364. Autism, susceptibility to, 8
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    365. Autism, susceptibility to, 9
     A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnorma...more »
    366. Autoimmune thyroid disease associated Celiac Disease
     Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of sympto...more »
    367. Autoimmune thyroid diseases
     Autoimmune diseases of the thyroid gland....more »
    368. Autosomal Recessive Polycystic Kidney Disease
     Severe form of PKD, a genetic kidney disease....more »
    369. 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 »
    370. 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 »
    371. 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 »
    372. 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 »
    373. 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 »
    374. BIDS syndrome
     A rare inherited condition characterized by brittle hair (B), mental and physical impairment (I), decreased fertility (D) and short stature (S)....more »
    375. BOD syndrome
     A very rare syndrome characterized primarily by small nails, digital abnormalities (mainly of the fifth finger and toe) and various facial anomalies....more »
    376. 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 »
    377. Baber's syndrome
     A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome....more »
    378. Bagatelle-Cassidy syndrome
     An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay....more »
    379. 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 »
    380. Bamboo hair syndrome
     A rare inherited condition characterized by abnormally formed hair shafts and a skin condition involving scaling and redness of the skin. Patients are also predisposed to developing allergic conditions such as asthma and eczema and food allergies. The sev...more »
    381. 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 »
    382. Bangstad syndrome
     A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia....more »
    383. 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 »
    384. Baraitser burn fixen syndrome
     A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face....more »
    385. Baraitser-Winter syndrome
     A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation....more »
    386. Barakat syndrome
     A rare condition characterized by deafness, kidney disease and insufficiency parathyroid hormone production....more »
    387. Barber-Say syndrome
     A very rare syndrome characterized primarily by excessive hair growth, skin anomaly, large mouth and outward turned eyelids (ectropion)....more »
    388. Bardet-Biedl Syndrome
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities....more »
    389. 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 »
    390. 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 »
    391. 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 »
    392. 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 »
    393. 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 »
    394. 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 »
    395. 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 »
    396. 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 »
    397. 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 »
    398. 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 »
    399. 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 »
    400. 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 »
    401. Barnicoat-Baraitser syndrome
     A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size....more »
    402. Barrow-Fitzsimmons Syndrome
     A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease....more »
    403. Barth Syndrome
     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 2 is characterized by its affects on the heart....more »
    404. Bartsocas Papa syndrome
     A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities....more »
    405. Bartter Syndrome
     A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels....more »
    406. Bartter Syndrome type 4
     Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4 also involves sensorineural deafness....more »
    407. Bartter Syndrome type 4A
     Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4A also involves sensorineural deafness....more »
    408. Bartter Syndrome type 4B
     Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4B also involves sensorineural deafness....more »
    409. Bartter's syndrome, antenatal type 1
     A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis....more »
    410. Bartters syndrome, antenatal , type 2
     A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance....more »
    411. Basan syndrome
     A rare condition characterized by skin, hair and nail abnormalities....more »
    412. 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 »
    413. 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 »
    414. Baughman syndrome
     A rare syndrome characterized mainly by fused eyelids, curly hair and abnormal nails....more »
    415. Bd syndrome
     A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder....more »
    416. Beals syndrome
     A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear....more »
    417. Bellini-Chiumello-Rinoldi syndrome
     A very rare syndrome characterized primarily by mental retardation, short stature and unusual shaped ends of long bones....more »
    418. 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 »
    419. 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 »
    420. 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 »
    421. Benign Fasciculation Syndrome
     Common movement disorder manifesting in a fine (fast) tremor; it is an inherited condition of unknown cause....more »
    422. Benjamin syndrome
     A rare disorder characterized mainly by anemia, bone abnormalities and mental and growth retardation....more »
    423. Bentham-Driessen-Hanveld syndrome
     A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation....more »
    424. Benzthiazide -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Benzthiazide 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 »
    425. 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 »
    426. 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 »
    427. 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 »
    428. Beriberi
     Disease due to vitamin B1 deficiency (thiamine)...more »
    429. Berk-Tabatznik syndrome
     A rare condition characterized by eye and skeletal problems....more »
    430. Berlin Breakage syndrome
     A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. The features of this condition are virtually indistinguishable from the Nigmegen Breakage syndrome....more »
    431. Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
     A very rare syndrome characterized primarily by brain aneurysms, liver cirrhosis, pulmonary emphysema and calcification of the brain (cerebrum)....more »
    432. 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 »
    433. Bessel-Hagen disease
     A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones....more »
    434. Beta Thalassemia intermedia
     Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involv...more »
    435. Beta thalassemia
     Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Beta thalassemia involves defects in one or more of the two genes required to make each ? p...more »
    436. Beta-ureidopropionase deficiency
     A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however....more »
    437. Betamethasone -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Betamethasone 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 »
    438. Betaxolol -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Betaxolol 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 »
    439. Beveridge syndrome
     A rare syndrome characterized by a large head, skeletal and visceral problems and patches of reduced skin pigmentation....more »
    440. 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 »
    441. Biaxin -- Teratogenic Agent
     There is evidence to indicate that exposure to Biaxin (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 level...more »
    442. Biemond syndrome type 2
     A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals....more »
    443. Biemond syndrome type 3
     A rare inherited condition characterized by the inability to feel pain as well as other anomalies....more »
    444. Bilateral renal agenesis dominant type
     A rare birth defect where both kidneys are absent. The disorder results in death within days of birth....more »
    445. Bile acid synthesis defect, congenital, 2
     A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid....more »
    446. Bile acid synthesis defect, congenital, 4
     A defect which prevents the body from making bile acid which results in progressive liver disease....more »
    447. Bile acid synthesis defects
     A defect which prevents the body from making bile acid which results in progressive liver disease....more »
    448. Bile acid synthesis defects, congenital, 1
     A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid....more »
    449. Bile acid synthesis defects, congenital, 2
     A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid....more »
    450. Bile acid synthesis defects, congenital, 3
     A defect which prevents the body from making bile acid which results in progressive liver disease. The defect involved a deficiency of 7-alpha-hydroxylase which is an enzyme needed to prevent the accumulation of 27-hydroxycholesterol which is toxic to the...more »
    451. Bile acid synthesis defects, congenital, 4
     A defect which prevents the body from making bile acid which results in progressive liver disease....more »
    452. Bindewald-Ulmer-Muller syndrome
     A rare syndrome characterized mainly by a heart defect, and mental and growth retardation....more »
    453. 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 »
    454. 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 »
    455. Biotinidase deficiency, late onset
     A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metaboli...more »
    456. Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency
     A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia....more »
    457. Bird-headed dwarfism, Montreal type
     A rare condition characterized by dwarfism and a characteristic beak-shaped nose....more »
    458. Bisoprolol -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Bisoprolol 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 »
    459. Blepharo facio skeletal syndrome
     A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities....more »
    460. Blepharophimosis -- nasal groove -- growth delay
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    461. Blepharophimosis -- nasal groove -- growth retardation
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    462. Blepharophimosis -- ptosis -- syndactyly -- mental retardation
     A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation....more »
    463. Blepharophimosis ptosis esotropia syndactyly short
     A rare disorder characterized by eye anomalies, webbed fingers and short stature....more »
    464. Blepharophimosis syndrome Ohdo type
     An extremely rare syndrome characterized primarily by mental retardation and eye anomalies. Only a handful of cases have been reported....more »
    465. Blepharophimosis with ptosis, syndactyly, and short stature
     A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature....more »
    466. Blepharophimosis, ptosis, polythelia and brachydactyly
     A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia)....more »
    467. Blepharoptosis -- aortic anomaly
     A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta....more »
    468. 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 »
    469. Blethen-Wenick-Hawkins syndrome
     A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning....more »
    470. Blind loop syndrome
     A rare intestinal defect where there is a small loop in the intestines that allow digesting material to enter but not exit. The symptoms are variable depending on the size and location of the pouch....more »
    471. Blomstrand syndrome
     A rare lethal congenital condition characterized by abnormal bone development....more »
    472. Bloom Syndrome
     A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face....more »
    473. 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 »
    474. 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 »
    475. 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 »
    476. Bone dysplasia, lethal, Holmgren type
     A rare lethal bone malformation syndrome....more »
    477. Bone fragility, craniosynostosis, proptosis, hydrocephalus
     A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull....more »
    478. Bone-Marrow failure syndromes
     A disorder where the bone marrow fails to produce enough new blood cells....more »
    479. 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 »
    480. Bonnemann-Meinecke-Reich syndrome
     A rare disorder characterized mainly by growth problems, vision problems and brain disease....more »
    481. Borjeson Syndrome
     A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities....more »
    482. Borjeson-Forssman-Lehmann Syndrome
     A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities....more »
    483. Borrone-Di Rocco-Crovato syndrome
     A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition....more »
    484. Bosma-Henkin-Christiansen syndrome
     A rare syndrome characterized mainly by a reduced sense of smell, an underdeveloped nose and hypogonadism....more »
    485. Botulism food poisoning
     Extremely dangerous food poisoning requiring medical attention, but not always recognized because of its non-abdominal symptoms....more »
    486. Boudhina-Yedes-Khiari syndrome
     A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions....more »
    487. Bowing, congenital, short bones
     A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones....more »
    488. Boyd-Stearns syndrome
     A rare syndrome associated with various metabolic disorders such as glycosuria, acidosis, albuminuria and hypochloremia. Symptoms include rickets during infancy, short stature, low blood phosphate levels, malnutrition and osteoporosis....more »
    489. Brachial Plexus Injury
     Damage to the nerves controlling the shoulder and arm (often from childbirth)....more »
    490. Brachycephalofrontonasal dysplasia
     A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities....more »
    491. 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 »
    492. 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 »
    493. Brachydactyly -- dwarfism -- mental retardation
     A very rare syndrome characterized by short fingers, very short stature and mental retardation....more »
    494. Brachydactyly -- elbow, wrist dysplasia
     A very rare syndrome characterized by elbow and wrist abnormalities and short end bones of fingers....more »
    495. Brachydactyly -- mesomelia -- mental retardation -- heart defects
     A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs....more »
    496. Brachydactyly -- scoliosis -- carpal fusion
     A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones....more »
    497. Brachydactyly -- small stature -- face anomalies
     A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies....more »
    498. Brachydactyly -- tibial hypoplasia
     A rare syndrome characterized by short digits and an underdeveloped or absent shin bone....more »
    499. 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 »
    500. 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 »
    501. 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 »
    502. 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 »
    503. Brachydactyly, long thumb type
     A rare digital anomaly characterized by short fingers and a long thumb....more »
    504. 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 »
    505. 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 »
    506. 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 »
    507. Brachyolmia
     A syndrome characterized mainly by short trunk dwarfism. There are several different subtypes, each with different additional features....more »
    508. Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
     A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone....more »
    509. Brachytelephalangy, characteristic facies, Kallmann
     A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies....more »
    510. Brailsford
     A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present....more »
    511. Brain -- bone -- fat
     A rare inherited disease characterized by bone cysts and progressive presenile dementia....more »
    512. Brain malformation -- congenital heart disease -- postaxial polydactyly
     A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers....more »
    513. 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 »
    514. Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct
     A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of the upper lip....more »
    515. Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and
     A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip....more »
    516. Breast Cancer
     Cancer of the breast....more »
    517. 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 »
    518. Breast carcinoma
     Carcinoma occurring in breast tissue....more »
    519. Brevibloc -- Teratogenic Agent
     There is evidence to indicate that exposure to Brevibloc (a heart 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 »
    520. Brittle hair -- mental deficiency
     A rare inherited disease characterized by brittle hair, mental retardation and fragile nails....more »
    521. Broken finger
     Fracture of a finger bone...more »
    522. Broken hand
     Fracture of one or more bones in the hand...more »
    523. 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 »
    524. 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 »
    525. 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 »
    526. 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 »
    527. 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 »
    528. 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 »
    529. 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 »
    530. 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 »
    531. 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 »
    532. 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 »
    533. 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 »
    534. 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 »
    535. 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 »
    536. 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 »
    537. 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 »
    538. Bronchopulmonary dysplasia
     A rare form of infant lung disease that usually occurs as a complication of ventilator use in premature babies....more »
    539. Brosnan Syndrome
     A very rare syndrome described in two sisters. The condition involved a variety of abnormalities including short stature and kidney and reproductive anomalies....more »
    540. 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 »
    541. 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 »
    542. 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 »
    543. Bulimia nervosa
     Eating disorder with binging (overeating) and purging (vomiting)....more »
    544. 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 »
    545. Buntinx-Lormans-Martin syndrome
     A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones....more »
    546. Buprenorphine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Buprenorphine 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 »
    547. Burnett-Schwartz-Berberian syndrome
     A rare syndrome characterized by an inflammatory facial skin disorder and various congenital anomalies....more »
    548. Buttiens-Fryns syndrome
     A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet....more »
    549. 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 »
    550. C-like syndrome
     A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay....more »
    551. CAMFAK syndrome
     A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature....more »
    552. CCFDN
     A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy....more »
    553. CDG syndrome (generic term)
     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. The main symptom in all the disorders is psychomotor ...more »
    554. 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 »
    555. 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 »
    556. 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 »
    557. 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 »
    558. 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 »
    559. 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 »
    560. 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 »
    561. 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 »
    562. CHARGE Syndrome
     A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects....more »
    563. CHILD syndrome ichthyosis
     A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects....more »
    564. CMV antenatal infection
     A rare condition where a fetus becomes infected with the cytomegalovirus through the mother....more »
    565. COFS syndrome
     A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage....more »
    566. COPD
     Severe obstruction of bronchial air flow typically from bronchitis and/or emphysema....more »
    567. CRMO, juvenile
     A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at ...more »
    568. Caffeine -- Teratogenic Agent
     There is strong evidence to indicate that exposure to caffeine 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 »
    569. Calcium deficiency
     Dietary deficiency of calcium....more »
    570. Callus
     Thickening of skin on hands or feet....more »
    571. Camera Costa Syndrome
     Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect....more »
    572. Camera-Marugo-Cohen syndrome
     A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body....more »
    573. 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 »
    574. Campomelic Syndrome
     A rare condition characterized by dwarfism due to bowed shin and thigh bones as well as various craniofacial and other skeletal anomalies....more »
    575. Campomelic dwarfism
     A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face....more »
    576. Campomelic dysplasia
     A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face....more »
    577. Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia
     A rare syndrome characterized by a hand deformity and skeletal abnormalities....more »
    578. 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 »
    579. Camptodactyly -- taurinuria
     A rare disorder characterized by high urinary levels of taurine as well as a hand malformation....more »
    580. Camptodactyly syndrome, Guadalajara type 1
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head....more »
    581. Camptodactyly syndrome, Guadalajara type 2
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly)....more »
    582. Camptodactyly syndrome, Guadalajara type 3
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly)....more »
    583. Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
     A rare syndrome characterized by a hand deformity and skeletal abnormalities....more »
    584. 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 »
    585. Camptomelic dysplasia I
     A rare condition characterized by dwarfism due to bowed shin and thigh bones....more »
    586. Camptomelic dysplasia II
     A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal....more »
    587. Camptomelic syndrome
     A rare inherited skeletal disorder characterized by short stature, missing ribs and other abnormalities....more »
    588. Camurati-Engelmann Disease
     A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain....more »
    589. 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 »
    590. Cantu Sanchez-Corona Garcia-cruz syndrome
     A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities....more »
    591. Cantú syndrome
     A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage...more »
    592. 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 »
    593. Carbamate insecticide poisoning
     Excessive ingestion of carbamate insecticide drugs....more »
    594. 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 »
    595. Carbamoyl-phosphate synthase 1 deficiency
     A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications ...more »
    596. Carbohydrate deficiency glycoprotein syndrome type II
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves t...more »
    597. Cardem -- Teratogenic Agent
     There is evidence to indicate that exposure to Cardem (a beta-blocker 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 affected ...more »
    598. 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 »
    599. Cardiocranial syndrome
     A rare syndrome characterized mainly by heart and skull abnormalities....more »
    600. Cardiomelic syndrome Stratton Koehler type
     A rare syndrome characterized mainly by heart and skeletal abnormalities....more »
    601. Cardiomyopathy, X-linked, fatal infantile
     An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The condition occurs during infancy and results in death....more »
    602. 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 »
    603. Carnevale-Canun-Mendoza syndrome
     A rare disorder characterized by loss of bone tissue in the wrists and ankles as well as kidney problems....more »
    604. 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 »
    605. Carnevale-Krajewska-Fischetto syndrome
     A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay....more »
    606. Carnosinase deficiency
     A very rare inherited metabolic disorder characterized by severe neurological abnormalities such as mental retardation and myoclonic seizures....more »
    607. Carpal Tunnel Syndrome
     Hand or wrist problems; often from repetitive motion....more »
    608. Carpal deformity -- micrognathia -- microstomia
     A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth....more »
    609. 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 »
    610. Cartelol -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Cartelol 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 »
    611. Cartilage Hair Hypoplasia
     A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair....more »
    612. Cartilage-hair hypoplasia-like syndrome
     A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome....more »
    613. Cartwright-Nelson-Fryns syndrome
     A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities....more »
    614. 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 »
    615. 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 »
    616. Cat's cry
    617. Cataract -- aberrant oral frenula -- growth delay
     A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum)....more »
    618. Cataract -- ataxia -- deafness
     A rare syndrome characterized by cataracts, ataxia and progressive deafness....more »
    619. 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 »
    620. 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 »
    621. Cataract deafness hypogonadism
     A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production....more »
    622. Cataract, alopecia, sclerodactyly
     A rare disorder characterized by cataracts, lack of hair and skin changes in the hands and feet....more »
    623. Catatonic syndrome
     A rare syndrome often seen in schizophrenics or associated with central nervous system disturbances or brain trauma. The symptoms tend to occur in episodes with periods of remission in between....more »
    624. 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 »
    625. Caudal appendage -- deafness
     A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage)....more »
    626. Caustic or corrosive substance ingestion
     Ingestion of a caustic (alkaline) or corrosive (acidic) substance. Many cases occur when children ingest cleaning products found in the home....more »
    627. 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 »
    628. Celiac Disease
     Digestive intolerance to gluten in the diet....more »
    629. Celiac disease, susceptibility to 1
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 6p21.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small int...more »
    630. Celiac disease, susceptibility to 10
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q25-q26. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small i...more »
    631. Celiac disease, susceptibility to 11
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q28. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intes...more »
    632. Celiac disease, susceptibility to 12
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 6q25.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small int...more »
    633. Celiac disease, susceptibility to 13
     The susceptibility to developing celiac disease due to a genetic defect in the SH2B3 gene on chromosome 12q24. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation...more »
    634. Celiac disease, susceptibility to 2
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 5q31-q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small i...more »
    635. Celiac disease, susceptibility to 3
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intes...more »
    636. Celiac disease, susceptibility to 4
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 19p13.1. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small in...more »
    637. Celiac disease, susceptibility to 5
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 15q11-q13. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small ...more »
    638. Celiac disease, susceptibility to 6
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 4q27. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intes...more »
    639. Celiac disease, susceptibility to 7
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 1q31. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intes...more »
    640. Celiac disease, susceptibility to 8
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q11-q12. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small i...more »
    641. Celiac disease, susceptibility to 9
     The susceptibility to developing celiac disease due to a genetic defect on chromosome 3p21. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intes...more »
    642. Celipro -- Teratogenic Agent
     There is evidence to indicate that exposure to Celipro (a beta-blocker 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 affected...more »
    643. Celiprolol -- Teratogenic Agent
     There is evidence to indicate that exposure to Celiprolol (a beta-blocker 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 affec...more »
    644. Cellulitis
     Inflammation of skin or subcutaneous tissues....more »
    645. 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 »
    646. Cerebellar ataxia -- intellectual deficit -- optic atrophy -- skin abnormalities
     A rare syndrome characterized by ataxia, mental retardation, optic atrophy and skin abnormalities....more »
    647. Cerebellar hypoplasia
     A rare brain disorder where a part of the brain (cerebellum) fails to develop fully. The cerebellum is the part of the brain that controls balance and movement....more »
    648. Cerebellar hypoplasia -- endosteal sclerosis
     A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis)....more »
    649. 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 »
    650. Cerebelloparenchymal disorder 3
     A rare disorder characterized by mental deficiency and delayed development of speech and motor skills. The condition is nonprogressive and is caused by degeneration of a part of the brain called the cerebellum....more »
    651. Cerebral Palsy
     Any brain disorder causing movement disability...more »
    652. Cerebral Palsy, Ataxic, Autosomal Recessive
     Ataxic cerebral palsy refers to an injury to the brain that results primarily in low muscle tone and poor coordination of movements. The ataxic autosomal recessive form is an inherited abnormality in the development of the brain which is linked to chromos...more »
    653. 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 »
    654. Cerebral palsy, spastic, diplegic
     Brain damage that involves muscle rigidity that occurs either in both arms or in both legs. The brain damage is often the result of a birth defect or some sort of trauma to the brain....more »
    655. Cerebro oculo skeleto renal syndrome
     A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities....more »
    656. Cerebro-facio-thoracic dysplasia
     A very rare syndrome characterized by mental retardation, spinal and rib defects and facial anomalies....more »
    657. Cerebro-oculo-dento-auriculo-skeletal syndrome
     A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton....more »
    658. Cerebrocostomandibular Syndrome
     A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities....more »
    659. Cerebrorenodigital syndrome
     A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities....more »
    660. 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 »
    661. 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 »
    662. 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 »
    663. Cervical Teratoma
     A cervical teratoma is a very rare form of germ cell tumor that occurs in the neck. These tumors usually develop in the fetus and tend to be large and benign even though they grow continually. In rare cases they can occur in adults in which case they tend...more »
    664. Cervical hypertrichosis neuropathy
     A very rare disorder characterized mainly by a hairy throat and abnormal sensations in the hands and feet....more »
    665. Charcot-Marie-Tooth Disorder
     Degeneration of limb muscles....more »
    666. 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 »
    667. 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 »
    668. 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 »
    669. 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 »
    670. 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 »
    671. 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 »
    672. 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 »
    673. 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 »
    674. 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 »
    675. 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 »
    676. 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 »
    677. 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 »
    678. 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 »
    679. 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 »
    680. 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 »
    681. 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 »
    682. 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 »
    683. 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 »
    684. 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 »
    685. 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 »
    686. 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 »
    687. 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 »
    688. 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 »
    689. 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 »
    690. 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 »
    691. Charcot-Marie-Tooth disease, X-linked recessive, 4
     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 4X is an inherited defect of the X chromosome a...more »
    692. 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 »
    693. 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 »
    694. 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 »
    695. 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 »
    696. 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 »
    697. Chediak-Higashi Syndrome
     An inherited immune system disorder characterized by reduced pigmentation, recurrent infection and neurological disorders....more »
    698. Chemical meningitis
     Symptomatic aseptic, chemical meningitis is a rare complication of myelography. A number of these cases have a history of one or more episodes of chemical meningitis preceding their arachnoiditis....more »
    699. 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 »
    700. 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 »
    701. 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 »
    702. 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 »
    703. 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 »
    704. 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 »
    705. 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 »
    706. 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 »
    707. 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 »
    708. 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 »
    709. 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 »
    710. 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 »
    711. 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 »
    712. 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 »
    713. 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 »
    714. 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 »
    715. 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 »
    716. 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 »
    717. 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 »
    718. 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 »
    719. 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 »
    720. 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 »
    721. 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 »
    722. 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 »
    723. 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 »
    724. 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 »
    725. 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 »
    726. 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 »
    727. 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 »
    728. 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 »
    729. 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 »
    730. 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 »
    731. Chemke-Oliver-Mallek syndrome
     A very rare syndrome characterized mainly by eye and finger and toe abnormalities....more »
    732. 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 »
    733. Chilblain
     Skin inflammation usually in cold weather...more »
    734. Childbirth
     Delivery of a fetus by a pregnant woman....more »
    735. Childhood hypophosphatasia
     An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate which results in loss of deciduous teeth before the age of 5 as well as muscle and bone problems - childhood onset....more »
    736. 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 »
    737. Chitayat Meunier Hodgkinson syndrome
     A very rare syndrome characterized by face and finger abnormalities...more »
    738. Chitayat-Moore-Del Bigio syndrome
     A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies....more »
    739. Chlamydia
     Common sexually transmitted disease often without symptoms....more »
    740. Chlorambucil -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlorambucil (a chemotherapy 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 »
    741. 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 »
    742. 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 »
    743. Chlorothiazide -- Teratogenic Agent
     There is evidence to indicate that exposure to Chlorothiazide ( a diuretic) 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 »
    744. 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 »
    745. 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 »
    746. 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 »
    747. 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 »
    748. Cholestasis, progressive familial intrahepatic 1
     A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage....more »
    749. Cholestasis, progressive familial intrahepatic 2
     A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various type...more »
    750. Cholestasis, progressive familial intrahepatic 3
     A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various type...more »
    751. Cholestatic jaundice -renal tubular insufficiency
     A very rare syndrome characterized by liver and kidney problems....more »
    752. Chondrodysplasia -- disorder of sex development
     A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems....more »
    753. Chondrodysplasia -- pseudohermaphrodism
     A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems....more »
    754. 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 »
    755. Chondrodysplasia punctata lethal neonatal
     A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head....more »
    756. 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 »
    757. 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 »
    758. Chondrodysplasia punctata, humero-metacarpal type
     A rare genetic disorder characterized mainly by abnormal bone calcification. The abnormal calcification occurred in various parts of the body such as the feet, shoulders, tailbone, spine and trachea....more »
    759. 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 »
    760. Chondrodysplasia, Grebe type
     A rare genetic disorder characterized by dwarfism and various limb deformities....more »
    761. Chondrodysplasia, acromesomelic, with genital anomalies
     A very rare condition characterized by severe limb malformations and genital anomalies. The reported case involved related parents....more »
    762. Chondrodysplasia, type Nance-Sweeney
     A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies....more »
    763. Chondrodystrophia calcificans congenita
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    764. Chondrodystrophia punctata, autosomal dominant
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    765. Chondroectodermal dysplasia
     A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities....more »
    766. Choroideremia -- hypopituitarism
     A rare inherited disorder characterized by eye disease and hypopituitarism....more »
    767. Christian-Demyer-Franken syndrome
     A rare syndrome characterized mainly by mental retardation and skeletal abnormalities....more »
    768. Christianson Fourie syndrome
     A very rare syndrome characterized mainly by hair and nail abnormalities....more »
    769. 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 »
    770. Chromosome 1 ring
     A rare chromosomal disorder where the ends of chromosome 1 are deleted and the chromosome rejoins to form a ring. The disorder is characterized by mental and physical development delay, short stature and low birth weight....more »
    771. 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 »
    772. 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 »
    773. 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 »
    774. 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 »
    775. 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 »
    776. 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 »
    777. 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 »
    778. 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 »
    779. 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 »
    780. Chromosome 1, proximal deletion
    781. Chromosome 1, pter-p36
     A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable....more »
    782. Chromosome 1, q42 11 q42 12 duplication
     A rare chromosomal disorder where duplication of a portion of chromosome 1 causes mainly short stature and dwarfism....more »
    783. 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 »
    784. 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 »
    785. 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 »
    786. 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 »
    787. Chromosome 10, Monosomy 10p
    788. 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 »
    789. 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 »
    790. 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 »
    791. 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 »
    792. 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 »
    793. 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 »
    794. 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 »
    795. 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 »
    796. 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 »
    797. Chromosome 11;14 translocation
     A rare chromosomal disorder where some genetic material from chromosome 11 is moved to chromosome 14. Only one reported case....more »
    798. Chromosome 11q duplication syndrome
     A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated...more »
    799. 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 »
    800. 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 »
    801. 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 »
    802. 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 »
    803. 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 »
    804. 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 »
    805. 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 »
    806. 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 »
    807. Chromosome 12p partial deletion
     A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    808. 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 »
    809. 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 »
    810. 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 »
    811. 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 »
    812. 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 »
    813. 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 »
    814. 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 »
    815. 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 »
    816. 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 »
    817. Chromosome 14 Ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 14 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 »
    818. Chromosome 14 deletion
     A rare genetic disorder where deletion genetic material from chromosome 14 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted....more »
    819. Chromosome 14 trisomy
     A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated....more »
    820. Chromosome 14 trisomy syndrome
     A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities....more »
    821. Chromosome 14 uniparental disomy syndrome
     A rare chromosomal disorder where two homologues are obtained from one parent....more »
    822. Chromosome 14, trisomy mosaic
     A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients....more »
    823. 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 »
    824. 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 »
    825. 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 »
    826. 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 »
    827. 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 »
    828. Chromosome 15 trisomy
     A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15....more »
    829. 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 »
    830. 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 »
    831. 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 »
    832. 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 »
    833. 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 »
    834. Chromosome 15q, deletion
     A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15....more »
    835. 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 »
    836. 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 »
    837. 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 »
    838. 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 »
    839. Chromosome 16, uniparental disomy
     A rare chromosomal disorder where an extra copy of chromosome 16 is inherited from one parent only....more »
    840. 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 »
    841. 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 »
    842. 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 »
    843. Chromosome 17 deletion
     A rare genetic disorder where deletion genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted....more »
    844. 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 »
    845. Chromosome 17 trisomy
     A rare genetic disorder where duplication of genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is duplicated....more »
    846. Chromosome 17 trisomy mosaicism
     A rare chromosomal disorder where there are three copies of chromosome 17 in some of the body's cells. The type of symptoms and severity is determined by the number of cells that have the three copies. Some cases have no obvious symptoms....more »
    847. 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 »
    848. 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 »
    849. 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 »
    850. 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 »
    851. 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 »
    852. Chromosome 18 deletion syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing....more »
    853. 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 »
    854. Chromosome 18, deletion 18q23
     A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient....more »
    855. 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 »
    856. 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 »
    857. 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 »
    858. 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 »
    859. 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 »
    860. Chromosome 19p duplication syndrome
     A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities....more »
    861. Chromosome 19q, partial duplication
     A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion....more »
    862. 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 »
    863. 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 »
    864. 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 »
    865. 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 »
    866. 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 »
    867. 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 »
    868. Chromosome 1q21.1 Duplication Syndrome
     A rare chromosomal disorder caused by the duplication of a portion of chromosome 1 at a specific location (1q21.1). The main symptoms were autism and mental retardation as well as other physical anomalies....more »
    869. Chromosome 2 trisomy syndrome
     A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two....more »
    870. 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 »
    871. 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 »
    872. Chromosome 2, monosomy 2q24
     A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2....more »
    873. 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 »
    874. 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 »
    875. 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 »
    876. Chromosome 20 ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 20 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 »
    877. Chromosome 20, deletion 20p
     A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    878. Chromosome 20, trisomy
     A rare chromosomal disorder where there are three copies of chromosome 20 rather than the normal two which results in severe abnormalities and death....more »
    879. Chromosome 20p deletion syndrome
     A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted....more »
    880. 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 »
    881. 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 »
    882. 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 »
    883. Chromosome 21, monosomy 21q22
     A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted....more »
    884. 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 »
    885. 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 »
    886. Chromosome 21q, partial deletion
     A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted....more »
    887. 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 »
    888. 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 »
    889. Chromosome 22 suprenumerary marker
     A rare chromosomal disorder involving structural abnormalities of chromosome 22 and are more prevalent in children born to older mothers....more »
    890. 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 »
    891. Chromosome 22, microdeletion 22q11
     A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted....more »
    892. 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 »
    893. 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 »
    894. 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 »
    895. 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 »
    896. Chromosome 22q deletion syndrome
     A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities....more »
    897. Chromosome 22q duplication syndrome
     A rare chromosomal disorder where the long arm of chromosome 22 is duplicated....more »
    898. Chromosome 22q11 Deletion Spectrum
     A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location....more »
    899. Chromosome 22q11 deletion
     A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location....more »
    900. Chromosome 22q11.2 microduplication
     A rare chromosomal disorder where a part of the chromosome 22 genetic material at the q11.2 location is duplicated resulting in various anomalies ranging from mild to severe amongst different patients....more »
    901. 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 »
    902. 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 »
    903. 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 »
    904. 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 »
    905. 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 »
    906. 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 »
    907. Chromosome 3, Monosomy 3p2
     A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion....more »
    908. Chromosome 3, Trisomy 3q2
     A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 3. The symptoms are determined by the size and exact location of the duplicated portion....more »
    909. 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 »
    910. Chromosome 3, monosomy 3p14 p11
     A rare chromosomal disorder characterized by facial and limb abnormalities as well as lymphedema....more »
    911. Chromosome 3, monosomy 3p25
     A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities....more »
    912. Chromosome 3, monosomy 3q13
     A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility....more »
    913. 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 »
    914. 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 »
    915. 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 »
    916. 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 »
    917. 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 »
    918. 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 »
    919. 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 »
    920. Chromosome 4, Monosomy Distal 4q
     A rare chromosomal disorder involving a deletion of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the deleted portion....more »
    921. Chromosome 4, partial trisomy distal 4q
     A rare chromosomal disorder involving the duplication of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the duplicated portion....more »
    922. 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 »
    923. Chromosome 4, trisomy 4q
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material....more »
    924. Chromosome 4, trisomy 4q25 qter
     A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 4....more »
    925. 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 »
    926. 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 »
    927. 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 »
    928. 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 »
    929. Chromosome 5, monosomy 5q35
     A very rare chromosomal disorder whose symptoms are variable but often include facial anomalies, skull malformations, developmental delay and heart defects....more »
    930. 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 »
    931. 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 »
    932. 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 »
    933. 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 »
    934. 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 »
    935. 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 »
    936. 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 »
    937. 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 »
    938. Chromosome 6, monosomy 6q1
     A rare chromosomal disorder involving the deletion of a portion of the long arm of chromosome 6....more »
    939. 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 »
    940. Chromosome 6, trisomy 6p
     A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material....more »
    941. 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 »
    942. 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 »
    943. Chromosome 6pter-p24 Deletion Syndrome
     A rare genetic syndrome characterized by deletion of genetic material in the chromosomal region 6pter-p24....more »
    944. 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 »
    945. 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 »
    946. 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 »
    947. Chromosome 7 deletion p21.1-p22.1
     A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities....more »
    948. Chromosome 7 deletion p22.2-p22.1
     A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities....more »
    949. Chromosome 7 ring syndrome
     A rare chromosomal disorder where the ends of chromosome 7 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 »
    950. 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 »
    951. Chromosome 7, monosomy 7q21
     A rare chromosomal disorder characterized by mental retardation, short stature, facial anomalies and muscle and distal limb abnormalities....more »
    952. 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 »
    953. 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 »
    954. Chromosome 7, terminal 7p deletion
     A rare chromosomal disorder where there is one copy of the end 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 deleted....more »
    955. 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 »
    956. Chromosome 7, trisomy 7p13 p12 2
     A rare chromosomal disorder where duplication of a portion of chromosome 7 causes various abnormalities such as short stature and mental retardation....more »
    957. 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 »
    958. Chromosome 7, trisomy mosaic
     A very rare chromosomal disorder where there is an extra copy of chromosome 7 in some of the body's cells. Most cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells...more »
    959. 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 »
    960. 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 »
    961. 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 »
    962. Chromosome 8 deletion
     A rare chromosomal disorder where there is only one copy of the genetic material of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location...more »
    963. Chromosome 8 recombinant syndrome
     A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities....more »
    964. 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 »
    965. 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 »
    966. Chromosome 8, Monosomy 8p2
     A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted....more »
    967. Chromosome 8, Monosomy 8p21-pter
     A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted....more »
    968. 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 »
    969. Chromosome 8, monosomy 8p23.1
     A rare chromosomal disorder involving the deletion of a portion of the short arm of chromosome 8. The symptoms are determined by the size and exact location of the deleted portion....more »
    970. 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 »
    971. 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 »
    972. Chromosome 8, partial trisomy
     A rare chromosomal disorder where there are three copies of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material...more »
    973. 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 »
    974. 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 »
    975. 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 »
    976. 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 »
    977. 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 »
    978. 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 »
    979. 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 »
    980. 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 »
    981. Chromosome 9 Ring
     A rare chromosomal abnormality where genetic material from the two ends is missing and the two ends rejoin to form a ring. The symptoms are determined by the size and exact location of the deleted portion....more »
    982. Chromosome 9 inversion or duplication
     A very rare genetic disorder where a portion of chromosome 9 is inverted or duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved....more »
    983. 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 »
    984. 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 »
    985. 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 »
    986. Chromosome 9, Trisomy 9p (Multiple Variants)
     A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities....more »
    987. 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 »
    988. 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 »
    989. 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 »
    990. 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 »
    991. 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 »
    992. Chromosome 9, trisomy 9q32
     A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies....more »
    993. Chromosome 9/mosaic
     A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material....more »
    994. 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 »
    995. 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 »
    996. Chromosome 9q deletion syndrome
     A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms....more »
    997. 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 »
    998. Chromosome 9q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities....more »
    999. 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 »
    1000. Chromosome Xp11.23-p11.22 Duplication syndrome
     A rare syndrome characterized by the association of a large head, lack of hair, scoliosis and a skin anomaly. The reported patients tend to involve parents who were related....more »
    1001. Chromosome diploid-triploid mosaicism syndrome
     A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism....more »
    1002. Chromosomes 1 and 2, monosomy 2q duplication 1p
     A very rare chromosomal disorder where a portion of chromosome 2q shifts to chromosome 1p resulting in duplication of chromosome 1p and deletion of chromosome 2q. The defect results in various abnormalities including retarded fetal growth, small head and ...more »
    1003. Chronic Alcoholism -- Teratogenic Agent
     There is strong evidence to indicate that chronic alcoholism during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    1004. Chronic Bronchitis
     Chronic bronchitis is a chronic inflammation of the bronchi (medium-size airways) in the lungs....more »
    1005. Chronic Fatigue Syndrome
     Severe chronic fatigue disorder often following infection....more »
    1006. 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 »
    1007. 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 »
    1008. 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 »
    1009. 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 »
    1010. Chronic interstitial nephritis
    1011. Chronic liver disease
     Any form of chronic liver disease...more »
    1012. 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 »
    1013. Chronic renal insufficiency
     Chronic lack of function of the renal system. Kidneys....more »
    1014. Chronic vitamin A toxicity
     Chronic excessive ingestion of vitamin A can cause symptoms....more »
    1015. Chudley syndrome 1
     A rare syndrome characterized by mental retardation, obesity, hypogonadism and a distinctive mouth....more »
    1016. 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 »
    1017. Chylomicron Retention Disease
     A rare condition characterized by the inability of the intestines to absorb fats from the diet which cause failure to thrive in infants....more »
    1018. Chylomicron retention disease with Marinesco-Sjogren syndrome
     A rare condition characterized by abnormal lipid metabolism, vitamin E deficiency, incoordination and short stature....more »
    1019. 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 »
    1020. Ciguatera poisoning
     Rare toxic food poisoning from eating contaminated fish...more »
    1021. 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 »
    1022. Cirrhosis of liver
     Chronic liver disease wherein normal liver parenchyma is replaced by fibrous tissue....more »
    1023. Cirrhosis of the liver
     Scarring of the liver from alcohol or other causes....more »
    1024. Citrulline transport defect
     A rare metabolic disorder where citrulline is unable to be transported within the body which affects growth. In one case, a 19 year old had the height and weight of a 6 year old....more »
    1025. Clarithromycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Clarithromycin (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 »
    1026. Clark-Baraitser syndrome
     A very rare syndrome characterized mainly by tallness, large head, mental retardation and various facial anomalies....more »
    1027. Classic Distal Renal Tubular Acidosis
     A condition which is characterized by the formation of an acidosis due to a problem with the renal distal tubule...more »
    1028. Classic childhood ALD
     Classic severe form of ALD in boys....more »
    1029. 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 »
    1030. Classical pyridoxine-dependent seizures
     A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication....more »
    1031. Clavicle, pseudoarthrosis of, congenital
     A rare congenital condition where the collarbone doesn't develop normally....more »
    1032. Clayton-Smith Donnai syndrome
     A very rare syndrome characterized by scaly skin and facial and finger anomalies....more »
    1033. Cleft lip -- palate -- abnormal thumbs -- microcephaly
     A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate....more »
    1034. Cleft lip -- palate -- ectrodactyly
     A very rare syndrome characterized by a cleft lip and palate and missing fingers and toes....more »
    1035. Cleft lip -- palate -- mental retardation -- corneal opacity
     A very rare syndrome characterized mainly by mental retardation, cleft lip and palate and cloudy corneas....more »
    1036. Cleft lip and palate -- malrotation -- cardiopathy
     A very rare syndrome characterized by heart defects, malrotated intestines and various facial anomalies....more »
    1037. 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 »
    1038. 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 »
    1039. 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 »
    1040. Cleft palate -- coloboma -- deafness
     A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness....more »
    1041. 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 »
    1042. Cleft palate -- short stature -- vertebral anomalies
     A very rare syndrome characterized by a cleft palate, short stature and abnormalities of the vertebrae in the spine....more »
    1043. Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism
     A rare syndrome characterized by the association of curly, choanal atresia, cleft palate and congenital hypothyroidism....more »
    1044. 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 »
    1045. Clefting -- ectropion -- conical teeth
     A rare birth syndrome characterized by cleft lip and palate, cone-shaped teeth and everted lower eyelids....more »
    1046. Cleidocranial dysplasia
     A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption....more »
    1047. Cleidorhizomelic syndrome
     A very rare inherited syndrome mainly involving skeletal abnormalities....more »
    1048. Clindamycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Clindamycin (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 »
    1049. 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 »
    1050. 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 »
    1051. Clonazepam -- Teratogenic Agent
     There is evidence to indicate that exposure to Clonazepam 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 »
    1052. 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 »
    1053. Clouston syndrome
     A rare genetic ectodermal disorder characterized by skin, hair, nail and eye abnormalities....more »
    1054. Coarse face -- hypotonia -- constipation
     A very rare syndrome characterized by coarse facial features, poor muscle tone and constipation....more »
    1055. Cobalamin malabsorption, selective, with proteinuria
     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 »
    1056. 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 »
    1057. 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 »
    1058. Cocaine addiction
     An uncontrollable desire to use cocaine on a regular basis. Chronic cocaine use can lead to dependency in as little as two weeks. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired eupho...more »
    1059. Cocaine fetopathy
     Cocaine use during pregnancy resulting in various birth defects and other abnormalities....more »
    1060. Cockayne syndrome
     A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin....more »
    1061. 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 »
    1062. 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 »
    1063. Cockayne syndrome type 3
     A rare inherited condition characterized by short stature, light sensitivity and a prematurely aged appearance. Type 3 is a late onset form of the disorder and symptoms occur in late childhood and tend to be mild....more »
    1064. 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 »
    1065. Coenzyme Q 10 (CoQ10), deficiency
     A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable....more »
    1066. 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 »
    1067. Coffin syndrome 1
     A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development....more »
    1068. Coffin-Lowry syndrome
     A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers....more »
    1069. Coffin-Siris Syndrome
     A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features....more »
    1070. Cohen Syndrome
     A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth....more »
    1071. 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 »
    1072. 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 »
    1073. Collagenous celiac disease
     Collagenous celiac disease is used to describe progressive celiac disease characterized by the presence of a layer of collagen (scarring) in the intestinal layers. This form of celiac disease usually fails to respond to treatments such as gluten-free diet...more »
    1074. Colles' fracture
    1075. Collins-Dennis-Clarke-Pope Syndrome
     A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects....more »
    1076. 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 »
    1077. 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 »
    1078. Combined pituitary hormone deficiency, non acquired, non syndromic
     Deficiency of more than one pituitary hormone not associated with any other malformations or abnormalities. The condition may be due to a genetic defect or the result of tumors, surgery or radiation therapies. Symptoms can vary considerable depending on w...more »
    1079. Comel-Netherton Syndrome
     A rare inherited condition characterized by abnormally formed hair shafts and a skin condition involving scaling and redness of the skin. Patients are also predisposed to developing allergic conditions such as asthma and eczema and food allergies. The sev...more »
    1080. 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 »
    1081. Communication conditions
     Medical conditions affecting the communication systems, such as speech....more »
    1082. Communication disorders
     Various disorders limiting the ability to communicate (including developmental communication disorders)...more »
    1083. 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 »
    1084. Complex 1 mitochondrial respiratory chain deficiency
     A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severit...more »
    1085. 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 »
    1086. Complex 5 mitochondrial respiratory chain deficiency
     A rare genetic defect where an enzyme deficiency (ATP synthetase) 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 deficiency may resul...more »
    1087. 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 »
    1088. 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 »
    1089. Conditions associated with nail abnormalities
     Nail abnormalities are problems with the color, shape, texture, or thickness of the fingernails or toenails....more »
    1090. 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 »
    1091. Congenital Disorder of Glycosylation, Type 1n
     A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1N has a defect in the RFT1 gene which results in decreased activity of an enzyme called dolichol-...more »
    1092. 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 »
    1093. Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects
     A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects....more »
    1094. 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 »
    1095. Congenital Malabsorptive Diarrhea, 4
     A congenital condition characterized by diarrhea and malabsorption resulting form a reduced number of enteroendocrine cells. Enteroendocrine cells are found mainly in the pancreas but also in the gastrointestinal tract and they produce various hormones ne...more »
    1096. Congenital Vitamin B12 Malabsorption
     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 »
    1097. 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 »
    1098. Congenital adrenal hyperplasia -- simple virilizing form in females
     A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females....more »
    1099. 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 »
    1100. 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 »
    1101. 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 »
    1102. Congenital chloride diarrhea
     A rare birth disorder where the intestines don't absorb electrolytes properly (especially chloride) which leads to electrolyte imbalance which is potentially fatal if untreated. Symptoms often start while the infant is still inside the womb....more »
    1103. Congenital cytomegalovirus
     Fetal infection with cytomegalovirus....more »
    1104. 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 »
    1105. 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 »
    1106. 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 »
    1107. 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 »
    1108. 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 »
    1109. 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 »
    1110. 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 »
    1111. Congenital disorder of glycosylation type 1K
     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 Ik is caused by a defect on chromosome 16p13.3 a...more »
    1112. Congenital disorder of glycosylation type 1L
     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 Il is caused by a defect on chromosome 11q23 and...more »
    1113. Congenital disorder of glycosylation type 1M
     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 Im is caused by a defect on chromosome 9q34.11 a...more »
    1114. Congenital disorder of glycosylation type 2C
     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 2c is caused by a defect on chromosome 11p11.2 a...more »
    1115. Congenital disorder of glycosylation type 2G
     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 IIg is caused by a defect on chromosome 17q25.1 ...more »
    1116. 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 »
    1117. Congenital disorder of glycosylation, type In
     A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1n involves a defect in the RFT1 gene and is characterized mainly by enlarged liver, seizures, dev...more »
    1118. Congenital fiber type disproportion
     A rare inherited disease involving abnormalities in the growth of type I muscle fibers....more »
    1119. Congenital heart defects
     Heart defects that a baby is born with....more »
    1120. Congenital heart disease -- radio ulnar synostosis -- mental retardation
     A very rare syndrome characterized mainly by heart disease at birth, fusion of forearm bones and mental retardation....more »
    1121. Congenital heart disease, ptosis, hypodontia, craniosynostosis
     A rare birth syndrome characterized by heart disease, droopy eyelids, missing teeth and premature fusion of skull bones....more »
    1122. 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 »
    1123. Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies
     A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism....more »
    1124. Congenital ichthyosis, microcephalus, quadriplegia
     A rare birth disorder characterized by scaly skin, small head and paralysis of legs and arms....more »
    1125. Congenital myasthenic syndrome with episodic apnea
     A disorder characterized by muscular weakness....more »
    1126. 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 »
    1127. 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 »
    1128. Congenital sucrose-isomaltose malabsorption
     A rare disorder where a congenital deficiency of an enzyme (sucrase-isomaltase) prevents the absorption of sucrase and isomaltose consumed in the diet....more »
    1129. Congenital syphilis
     Syphilis inherited from mother during pregnancy....more »
    1130. Congenital vaccinia
     Congenital vaccinia is where the fetus becomes infected with vaccinia. This can occur when vaccination is administered during pregnancy - vaccination during the third trimester appears to be the most likely to result in fetal infection. The newborn is bor...more »
    1131. 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 »
    1132. Connective tissue disorders
     Any condition affecting connective tissues....more »
    1133. 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 »
    1134. 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 »
    1135. Conradi-Huenermann Syndrome
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    1136. Conradi-Hunermann syndrome
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    1137. Conradi-Hünermann Syndrome
     A condition which affects the development of bone and cartilage...more »
    1138. Contact dermatitis
     Skin reaction to an irritant...more »
    1139. Continuous spike-wave during slow sleep syndrome
     A rare form of epilepsy that occurs between the ages of 3 and 7 and is diagnosed by the observation through an EEG of continuous spike and wave discharges during the slow sleep phase which is detected. The seizures often occur during sleep. Children outgr...more »
    1140. Contractures -- ectodermal dysplasia -- cleft lip palate
     A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation....more »
    1141. Cooley syndrome
     An inherited blood disorder involving abnormal production of red blood cells which causes serious anemia. It is a severe form of thalassemia....more »
    1142. Copper deficiency, familial benign
     A rare inherited copper deficiency. Copper has many functions in the body including heart function, cholesterol metabolism, brain development, immune defenses, blood supply, glucose metabolism and normal bone development....more »
    1143. 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 »
    1144. Cor Triatriatum
     A rare congenital malformation where the heart has three atria instead of the normal two due to the presence of a separating membrane....more »
    1145. Cordiax -- Teratogenic Agent
     There is evidence to indicate that exposure to Cordiax (a beta-blocker 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 affected...more »
    1146. 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 »
    1147. 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 »
    1148. Corneal anesthesia deafness intellectual deficit
     A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems....more »
    1149. Corneal anesthesia deafness mental retardation
     A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems....more »
    1150. Corneal dystrophy -- ichthyosis -- microcephaly -- mental retardation
     A very rare syndrome characterized by vision loss, scaly skin, small head and mental retardation....more »
    1151. Corneal hypesthesia deafness intellectual deficit
     A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems....more »
    1152. 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 »
    1153. 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 »
    1154. 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 »
    1155. 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 »
    1156. Corneodermatoosseous syndrome
     A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems....more »
    1157. 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 »
    1158. Corpus callosum agenesis -- blepharophimosis -- Robin sequence
     A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms....more »
    1159. Corpus callosum agenesis -- polysyndactyly
     A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies....more »
    1160. 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 »
    1161. 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 »
    1162. 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 »
    1163. Cortada Koussef Matsumoto syndrome
     A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation....more »
    1164. Cortical blindness -- mental retardation -- polydactyly
     A very rare syndrome characterized by mental retardation, extra fingers and vision loss....more »
    1165. Cortical hyperostosis-syndactyly
     A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones....more »
    1166. Corticosteroids -- Teratogenic Agent
     There is evidence to indicate that exposure to Corticosteroids 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 »
    1167. Corticosterone Methyloxidase type I Deficiency
     A very rare genetic disorder where deficiency of a particularly chemical (aldosterone synthase) results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated....more »
    1168. Costello syndrome
     A rare genetic disorder characterized by papillomas which may become malignant....more »
    1169. Cote-Katsantoni syndrome
     A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation....more »
    1170. 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 »
    1171. Cousin Walbrau Cegarra Syndrome
    1172. Coxoauricular syndrome
     A very rare syndrome characterized by skeletal and ear abnormalities, short stature and deafness....more »
    1173. Crack addiction
     An uncontrollable desire to use crack on a regular basis. Chronic crack use can lead to dependency in as little as two weeks. Crack is a form of cocaine - powdered cocaine is heated with ammonia or sodium bicarbonate to make rocks of crack. Frequent use l...more »
    1174. Crandall syndrome
     A very rare syndrome characterized by twisted hair, hearing loss and sex hormone deficiency....more »
    1175. Cranio osteoarthropathy
     A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing....more »
    1176. Cranio-facio-cardio-skeletal dysplasia
     A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities....more »
    1177. Cranioacrofacial syndrome
     A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies....more »
    1178. Craniodigital syndrome -- mental retardation
     A very rare syndrome characterized by webbed fingers and toes, mental retardation and skull and facial anomalies....more »
    1179. Cranioectodermal dysplasia
     A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities....more »
    1180. 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 »
    1181. Craniofacial dyssynostosis
     A very rare syndrome characterized primarily by the premature fusion of certain skull bones which gives the head an abnormal shape and also causes unusual facial features....more »
    1182. Craniofaciocardioskeletal syndrome
     A very rare syndrome characterized by facial, skull, heart and skeletal abnormalities....more »
    1183. Craniofrontonasal Syndrome
     A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement....more »
    1184. Craniofrontonasal dysplasia
     A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities....more »
    1185. Craniofrontonasal syndrome Teebi type
     A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities....more »
    1186. 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 »
    1187. Craniomicromelic syndrome
     A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth....more »
    1188. 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 »
    1189. Craniosynostosis -- alopecia -- brain defect
     A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect....more »
    1190. 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 »
    1191. Craniosynostosis -- congenital heart disease -- mental retardation
     A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation....more »
    1192. Craniosynostosis -- intracranial calcifications
     A rare syndrome characterized by the premature fusion of skull bones as well as abnormal calcifications inside the skull. The features of the disorder may vary....more »
    1193. 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 »
    1194. 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 »
    1195. 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 »
    1196. Craniosynostosis radial aplasia syndrome
     A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb, urogenital and craniofacial abnormalities....more »
    1197. Creatine deficiency, X-linked
     A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the bo...more »
    1198. 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 »
    1199. 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 »
    1200. 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 »
    1201. Crixan -- Teratogenic Agent
     There is evidence to indicate that exposure to Crixan (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 level...more »
    1202. Crome syndrome
     A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems....more »
    1203. 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 »
    1204. 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 »
    1205. 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 »
    1206. 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 »
    1207. Cryptomicrotia -- brachydactyly syndrome
     A very rare syndrome characterized mainly by ear malformations and short fingers and toes....more »
    1208. Cryptorchidism -- arachnodactyly -- mental retardation
     A very rare syndrome characterized mainly by undescended testes, long thin fingers and mental retardation....more »
    1209. 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 »
    1210. 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 »
    1211. Cushing syndrome, familial
     A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland....more »
    1212. Cushing's disease
    1213. 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 »
    1214. 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 »
    1215. Cutaneous diphtheria
     Skin infection from Diphtheria...more »
    1216. Cutis Laxa with Bone Dystrophy
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1217. Cutis Laxa with Growth and Developmental Delay
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1218. 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 »
    1219. Cutis Laxa, Autosomal Recessive, Type IIA
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1220. Cutis Laxa, Autosomal Recessive, Type IIB
     A recessively inherited condition characterized mainly by loose wrinkly skin and a prematurely aged appearance. Many of the reported cases involved parents who were related....more »
    1221. Cutis Laxa, Debre Type
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1222. Cutis laxa, recessive type 2
     A very rare syndrome characterized primarily by loose skin and delayed development....more »
    1223. 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 »
    1224. 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 »
    1225. 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 »
    1226. 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 »
    1227. Cyclothiazide -- Teratogenic Agent
     There is evidence to indicate that exposure to Cyclothiazide (a diuretic) 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 »
    1228. 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 »
    1229. Cystic adenomatoid malformation of lung
     A rare birth condition where the lungs fail to develop normally during the fetal stage and cysts form in parts of the lung instead of normal alveolar tissue....more »
    1230. Cystinosis
     A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects....more »
    1231. Cystinuria
     A rare inherited condition characterized by the abnormal transport of various amino acids (cystine, lysine, arginine, ornithine) resulting in excess amounts in the urinary system where it can form stones....more »
    1232. Cytochrome c oxydase deficiency, French-Canadian type
     A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver....more »
    1233. 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 »
    1234. Czeizel-Losonci syndrome
     A very rare syndrome characterized by missing fingers, ureter abnormalities, webbed fingers and toes and abnormal spinal development....more »
    1235. D ercole syndrome
     A very rare syndrome characterized mainly by short stature, small head and heart defects....more »
    1236. 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 »
    1237. Daentl-Townsend-Siegel syndrome
     A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull....more »
    1238. Daentl-Towsend-Siegel syndrome
     A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull....more »
    1239. Dahlberg syndrome
     A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes....more »
    1240. 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 »
    1241. Dandy Walker syndrome recessive form
     A rare recessively inherited brain malformation where a cyst develops in the brain which can interfere with the drainage of cerebrospinal fluid and lead to hydrocephalus. The severity of the condition is variable and symptoms tend to only occur if the flu...more »
    1242. Dandy-Walker -- facial hemangioma
     A very rare syndrome characterized mainly by a brain malformation (Dandy-Walker) and a hemangioma on the face (mass of dilated blood vessels)....more »
    1243. Dandy-Walker Syndrome
     A congenital brain malformation characterized by increased fluid in the brain....more »
    1244. 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 »
    1245. 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 »
    1246. Dauwerse-Peters syndrome
     A rare disorder characterized by short stature, unusual facial appearance, very short fingers and short toes as well as other skeletal anomalies....more »
    1247. Davis-Lafer syndrome
     A very rare syndrome characterized mainly by mental retardation and unusual facial features....more »
    1248. De Barsy Syndrome
     A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities....more »
    1249. 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 »
    1250. De Hauwere Leroy Adriaenssens syndrome
     A very rare syndrome characterized mainly by widely spaced eyes, deafness and an abnormality of the iris of the eye....more »
    1251. 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 »
    1252. 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 »
    1253. De Sanctis-Cacchione syndrome
     A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well neurologic involvement....more »
    1254. De la Chapelle syndrome
     A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY....more »
    1255. Deafness -- cataracts -- skeletal anomalies
     A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies....more »
    1256. Deafness -- epiphyseal dysplasia -- short stature
     A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thigh bone abnormalities....more »
    1257. 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 »
    1258. Deafness conductive -- ptosis -- skeletal anomalies
     A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities....more »
    1259. Deafness neurosensory -- pituitary dwarfism
     A very rare syndrome characterized by deafness and deficient sex hormone and pituitary hormone activity....more »
    1260. Deafness oligodontia syndrome
     A rare disorder characterized by missing teeth and deafness....more »
    1261. Deafness onychodystrophy dominant form
     A rare dominantly inherited disorder characterized by deafness from birth, deformed nails and...more »
    1262. Deafness symphalangism
     A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms. Joint ankylosis starts in early childhood and is progressive....more »
    1263. 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 »
    1264. Deafness-mental retardation, Martin-Probst type
     A rare disorder characterized mainly by deafness and mental retardation....more »
    1265. Deafness-tubular acidosis-anaemia
     A rare disorder characterized mainly by abnormal progressive calcification of the spinal cord and brain, kidney anomaly, anemia and deafness....more »
    1266. Debler anemia
     A familial type of anemia that starts during infancy and involves the premature destruction of red blood cells....more »
    1267. 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 »
    1268. 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 »
    1269. Decreased appetite and poor growth in children
    1270. Decreased appetite and poor growth in infants
    1271. Decreased mean cell haemoglobin
    1272. Decreased mean cell haemoglobin concentration
    1273. Decreased mean cell volume
    1274. Deficiency of Member 8 Acyl-CoA Dehydrogenace Family
     An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and s...more »
    1275. Dehydration
     Loss of fluids in the body...more »
    1276. 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 »
    1277. Del (2) (p13-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 »
    1278. 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 »
    1279. Del (2) (p15-p13)
     A rare chromosomal disorder characterized by severe developmental delay. The observations were made in two reported cases....more »
    1280. Del (2) (p25.1-p23)
     A rare chromosomal disorder characterized by developmental delay and small corneas. In the reported case, death occurred at 20 months....more »
    1281. Del (2) (p25.1-p23.3)
     A rare chromosomal disorder characterized by variable abnormalities which makes the condition poorly defined. Observations were made on two reported cases....more »
    1282. Del (2) (q21-q23)
     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 »
    1283. 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 »
    1284. Del (2) (q23.3-q24.2)
     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 »
    1285. 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 »
    1286. Del (2) (q32.1-q34)
     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 »
    1287. Del (2) (q32.3-q34)
     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 »
    1288. Del (2) (q33-q36)
     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 »
    1289. Del (2) (q34-q36)
     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 »
    1290. Del (2) (q35-q36.2)
     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 »
    1291. Del (2) (q35-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 »
    1292. Del (2) (q36-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 »
    1293. 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 »
    1294. 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 »
    1295. 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 »
    1296. Del (3) (p21.1-p13)
     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 »
    1297. 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 »
    1298. 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 »
    1299. 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 »
    1300. Del (3) (q12-q21)
     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 »
    1301. 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 »
    1302. Del (3) (q13-q22)
     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 »
    1303. 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 »
    1304. Del (3) (q28-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 »
    1305. Del (4) (pter-p16.2)
     A rare syndrome characterized by the main features of Wolf syndrome which include profound mental retaradation and oral clefting....more »
    1306. Del (4) (pter-p16.2) and dup (2) (q37.1-qter)
     A rare syndrome characterized by the main features of Wolf syndrome which include profound mental retaradation and oral clefting. Patients tend to die soon after birth....more »
    1307. Del (4) (pter-p16.3)
     A very rare chromosomal disorder where a portion of the short arm (pter-p16.3) of the genetic material on chromosome four is missing. The type and severity of symptoms can vary depending on the exact size and location of the deleted genetic material....more »
    1308. Del (4) (pter-p16.3) and dup (5) (pter-15.3)
     A very rare chromosomal disorder where a portion of the short arm (pter-p16.3) of the genetic material on chromosome four is missing. The manifestations tend to mimic a very mild form of Wolf syndrome and is characterized by seizures and developmental del...more »
    1309. Del(1) (23-q25)
     A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing....more »
    1310. Del(1) (p22.3-p13.3)
     A very rare chromosomal disorder where a portion of the short arm (p22.3-p13.3) of chromosome one is missing. The type and severity of symptoms is variable....more »
    1311. Del(1) (p36.1-p34.1)
     A very rare chromosomal disorder where a portion of the short arm (p36.1-p34.1) of chromosome one is missing. The type and severity of symptoms is variable....more »
    1312. Del(1) (p36.2-p36.1)
     A very rare chromosomal disorder where a portion of the short arm (p36.2-p36.1) of chromosome one is missing. The type and severity of symptoms is variable....more »
    1313. Del(1) (pter-p34)
     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 »
    1314. 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 »
    1315. 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 »
    1316. 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 »
    1317. Del(1) (q32-q41)
     A very rare chromosomal disorder where a portion of the long arm (q32-q41) of chromosome one is missing....more »
    1318. 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 »
    1319. Del(1) (q43-qter) & dup (22) (pter-q13)
     A very rare chromosomal disorder where a portion of the long arm (q43-qter) & dup (22) (pter-q13) of chromosome one is missing. The type and severity of symptoms is variable....more »
    1320. Del(1) (q44-qter)
     A very rare chromosomal disorder where a portion of the long arm (q44-qter) of chromosome one is missing. The type and severity of symptoms may vary....more »
    1321. 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 »
    1322. 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 »
    1323. Deletion 11q
     A very rare genetic disorder characterized by the deletion of genetic material from the long arm (q) of chromosome 11 - the genetic material occurs only once in body cells instead of the normal two. The type and severity of symptoms may vary considerably ...more »
    1324. Deletion 13q32
     A rare chromosomal disorder where a portion of the long arm (q32) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms can vary amongst patients....more »
    1325. 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 »
    1326. Deletion 22q11
     A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location....more »
    1327. 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 »
    1328. 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 »
    1329. 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 »
    1330. Deletion of the Short Arm of Chromosome 1
     A condition characterized by deletion of the short arm of chromosome 1...more »
    1331. 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 »
    1332. Demyelinating disorder
     Any condition that is characterised by the destruction of the myelin sheaths of the nerves...more »
    1333. Dennis cohen syndrome
     A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair....more »
    1334. Dent-Friedman syndrome
     A rare form of osteoporosis that occurs in children and adolescents and no cause can be determined....more »
    1335. Dentatorubral Pallidoluysian Atrophy
     A condition caused by an abnormality of the DNA sequence on chromosome 12...more »
    1336. 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 »
    1337. Dentinogenesis imperfecta -- short stature -- hearing loss -- mental retardation
     A rare syndrome characterized by teeth anomalies (dentinogenesis imperfecta), short stature, hearing loss and mental retardation....more »
    1338. 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 »
    1339. 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 »
    1340. 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 »
    1341. Depression
     Various syndromes with excessive anxiety, phobias, or fear....more »
    1342. Depressive disorders
     Depression or its various related conditions....more »
    1343. 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 »
    1344. Dermato-cardio-skeletal syndrome Borrone type
     A rare progressive syndrome characterized by skin, heart and skeletal abnormalities....more »
    1345. Dermatocardioskeletal syndrome, Boronne type
     A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect....more »
    1346. 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 »
    1347. Dermatomyositis
     A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash....more »
    1348. Dermatoosteolysis, Kirghizian type
     A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms....more »
    1349. Dermatopathia pigmentosa reticularis
     A very rare syndrome characterized mainly by increased skin pigmentation, thickened skin on palms and soles and reduced sweating....more »
    1350. Dermo-odontodysplasia
     A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities....more »
    1351. Desbuquois dysplasia
     A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities....more »
    1352. Desbuquois dysplasia-like syndrome
     A rare syndrome characterized by various anomalies similar to Desbuquois syndrome but there is no mental retardation, hand abnormalities or facial anomalies involved....more »
    1353. 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 »
    1354. Desmoplastic cerebral astrocytoma of infancy
     A rare type of brain tumor that occurs in infants. The tumor consists of cancerous astrocytes....more »
    1355. Desmoplastic infantile ganglioma
     A rare type of brain tumor that occurs in infants. The tumor may be slow-growing and benign or fast-growing and malignant....more »
    1356. Desmosterolosis
     A rare condition characterized by abnormal cholesterol biosynthesis where one of the intermediate products of cholesterol synthesis (desmosterol) is deposited in the body (plasma and other tissues). The condition also involves variable congenital anomalie...more »
    1357. Developmental delay -- epilepsy -- neonatal diabetes
     A rare syndrome characterized mainly by developmental delay, epilepsy and early-onset diabetes....more »
    1358. Developmental delay -- hypotonia extremities hypertrophy
     A very rare syndrome characterized mainly by poor muscle tone, developmental delay....more »
    1359. 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 »
    1360. 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 »
    1361. 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 »
    1362. Devriendt syndrome
     A rare syndrome characterized mainly by Robin sequence, short stature and seizures....more »
    1363. Dexamethasone -- Teratogenic Agent
     There is evidence to indicate that exposure to Dexamethasone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    1364. 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 »
    1365. Dextrocardia-bronchiectasis-sinusitis
     A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus....more »
    1366. Dextromethorphan -- Teratogenic Agent
     There is evidence to indicate that exposure to Dextromethorphan (an antitussive 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 affec...more »
    1367. 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 »
    1368. DiGeorge's syndrome
     Rare form of primary immune deficiency...more »
    1369. Diabetes Insipidus
     Rare pituitary disorder often affecting the kidneys....more »
    1370. Diabetes insipidus, diabetes mellitus, optic atrophy
     A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness....more »
    1371. Diabetes insipidus, nephrogenic type 2
     A rare congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. Type II is specifically caused by a defect in the AQP2...more »
    1372. Diabetes insipidus, nephrogenic, dominant type
     A rare dominantly inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically ca...more »
    1373. Diabetes insipidus, nephrogenic, recessive type
     A rare recessively inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically c...more »
    1374. Diabetes mellitus, permanent neonatal -- pancreatic and cerebellar agenesis
     A rare syndrome characterized by the abnormal development of the cerebellum and pancreas which results in diabetes mellitus....more »
    1375. Diabetes, neonatal -- congenital hypothyroidism -- congenital glaucoma -- hepatic fibrosis -- polycystic kidneys
     A rare syndrome characterized by the presence of diabetes, hypothyroidism, liver fibrosis, polycystic kidneys and glaucoma in infants....more »
    1376. Diabetic hypoglycemia
     Low blood sugar attack from insulin or diabetes medications...more »
    1377. Diabetic neuropathy
     Nerve damage from diabetes affecting any body part; most commonly feet....more »
    1378. Diamond-Blackfan anemia
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    1379. Diamond-Blackfan anemia 1
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    1380. Diamond-Blackfan anemia 2
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    1381. Diamond-Blackfan anemia 3
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    1382. Diamond-Blackfan anemia 4
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    1383. Diamond-Blackfan anemia 5
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    1384. Diamond-Blackfan anemia 6
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    1385. Diamond-Blackfan anemia 7
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    1386. Diamond-Blackfan anemia 8
     Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect ...more »
    1387. 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 »
    1388. 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 »
    1389. Diaphragmatic hernia -- upper limb defects
     A rare congenital disorder involving a diaphragmatic hernia and arm or hand defects....more »
    1390. Diarrhea
     Loose or watery stool....more »
    1391. Diarrhea chronic with villous atrophy
     A very rare metabolic disorder which causes abnormalities in the intestinal lining which results in chronic diarrhea. The reported patients died at 12 years of age and suffered a variety of other problems....more »
    1392. Diastrophic dysplasia
     A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities....more »
    1393. Diazepam -- Teratogenic Agent
     There is evidence to indicate that exposure to Diazepam 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 »
    1394. Diazepam overdose -- Teratogenic Agent
     There is evidence to indicate that exposure to Diazepam overdose 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 »
    1395. Dibasic aminoaciduria 2
     A rare condition where protein intolerance occurs as a result of a defect in the transport of dibasic amino acids through the intestines and kidneys. The amino acids (component of protein) can't be broken down properly and used by the body so it builds up...more »
    1396. 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 »
    1397. 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 »
    1398. 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 »
    1399. Die-Smulders-Vles-Fryns syndrome
     A very rare disorder characterized by facial anomalies, long thin fingers and mental retardation....more »
    1400. Diencephalic Syndrome
     A condition characterized by dysfunction of the diencphalon of the brain...more »
    1401. 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 »
    1402. Diethylstilbestrol -- Teratogenic Agent
     There is evidence to indicate that exposure to Diethylstilbestrol (a nonsteroidal estrogen) 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 »
    1403. Diethylstilbestrol antenatal infection
     A very rare syndrome characterized mainly caused by exposure to diethylstilbestrol (used to prevent complications during pregnancy such as miscarriage and prematurity) during pregnancy...more »
    1404. Diffuse neonatal hemangiomatosis
     A very rare syndrome characterized mainly by multiple capillary hemangiomas as well as other abnormalities....more »
    1405. Diffuse palmoplantar keratoderma, Bothnian type
     Thickened skin on palms and soles....more »
    1406. 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 »
    1407. 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 »
    1408. Digitalis -- Teratogenic Agent
     There is evidence to indicate that exposure to Digitalis (a heart 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 »
    1409. 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 »
    1410. Digoxin -- Teratogenic Agent
     There is evidence to indicate that exposure to Digoxin (a heart 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 level...more »
    1411. 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 »
    1412. 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 »
    1413. 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 »
    1414. 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 »
    1415. Dincsoy-Salih-Patel syndrome
     A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities....more »
    1416. Dinno-Shearer-Weisskopf syndrome
     A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies....more »
    1417. Diphallus -- rachischisis -- imperforate anus
     A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae....more »
    1418. 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 »
    1419. 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 »
    1420. 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 »
    1421. Diphtheria
     Infectious bacterial respiratory disease...more »
    1422. 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 »
    1423. 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 »
    1424. 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 »
    1425. 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 »
    1426. Distal arthrogryposis syndrome
     A rare genetic disorder characterized by congenital contractures and other physical defects....more »
    1427. 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 »
    1428. 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 »
    1429. 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 »
    1430. 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 »
    1431. 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 »
    1432. 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 »
    1433. 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 »
    1434. Distinctive Craniofacial Features -- Pterygia -- Mental Retardation
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    1435. Diuril -- Teratogenic Agent
     There is evidence to indicate that exposure to Diuril ( a diuretic) 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 »
    1436. Dobrow syndrome
     A very rare syndrome characterized mainly by abnormal webbing inside the mouth, short stature, eye problems, mental retardation and small head, jaw, eyes and mouth....more »
    1437. Double cortex syndrome
     A rare brain development disorder which causes mental retardation and epilepsy. An extra layer of nerves develops under the brain cortex....more »
    1438. Double outlet -- right ventricle I
     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. In the...more »
    1439. Double outlet -- right ventricle II
     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. In the...more »
    1440. 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 »
    1441. Down Syndrome
     A chromosome syndrome causing physical effects and mental retardation....more »
    1442. Down's Syndrome associated Alzheimer's disease
     Early-onset Alzheimer's is more prevalent in Down's Syndrome sufferers than in the general population. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory...more »
    1443. Down's syndrome associated Celiac Disease
     Patients with Down's syndrome have a high degree of susceptibility to developing celiac disease. Up to 17% of Down's syndrome sufferers develop celiac disease but this rate varies amongst age groups and country of origin. Celiac disease is an autoimmune d...more »
    1444. 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 »
    1445. 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 »
    1446. 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 »
    1447. 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 »
    1448. Dry skin
     Dryness of the skin....more »
    1449. Dubowitz Syndrome
     A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features....more »
    1450. 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 »
    1451. 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 »
    1452. 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 »
    1453. Duodenal atresia
     A rare birth defect where a portion of the small intestine is absent or completely closed off and the digestive products cannot pass through. It is usually associated with other birth defects....more »
    1454. 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 »
    1455. Dup (1) (q11-q22)
     A very rare chromosomal disorder where a portion of the long arm (q11-q22) of chromosome one is duplicated....more »
    1456. 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 »
    1457. Dup (1) (q23-qter) and del (3)(pter-p25)
     A very rare chromosomal disorder where a portion of the long arm (q23-qter) of chromosome one and the short arm of chromosome 3 (pter- p25) is duplicated. In the reported case, the infant died soon after birth....more »
    1458. 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 »
    1459. 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 »
    1460. 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 »
    1461. Dup (2) (p11.2-q14.1) 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 »
    1462. Dup (2) (p21-p13)
     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 »
    1463. Dup (2) (p22-p21)
     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 »
    1464. Dup (2) (p24.2-p21.0)
     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 »
    1465. 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 »
    1466. Dup (2) (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 »
    1467. 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 »
    1468. Dup (2) (pter-p23) and del (4) (q35-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 »
    1469. 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 »
    1470. 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 »
    1471. Dup (2) (q11.2-q14.2)
     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 »
    1472. Dup (2) (q11.2-q21.1)
     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 »
    1473. 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 »
    1474. 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 »
    1475. Dup (2) (q32.3-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 »
    1476. 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 »
    1477. Dup (2) (q34-q37)
     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 »
    1478. Dup (3) (pter-p14)
     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 »
    1479. Dup (3) (pter-p21) and del (1) (q43-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 »
    1480. 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 »
    1481. 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 »
    1482. Dup (3) (pter-p25)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in nine reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    1483. 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 »
    1484. 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 »
    1485. 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 »
    1486. 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 »
    1487. 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 »
    1488. 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 »
    1489. 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 »
    1490. Dup (5)(q11-q22)
     A rare chromosomal disorder involving duplication of a certain section (q11-q22) of the long arm of chromosome 5 which results in various abnormalities....more »
    1491. 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 »
    1492. 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 »
    1493. 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 »
    1494. 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 »
    1495. Dup(1) (p31-p21)
     A very rare chromosomal disorder where a portion of the short arm (p31-p21) of chromosome one is duplicated. The type and severity of symptoms is variable....more »
    1496. Dup(1) (p31.4-p22.1)
     A very rare chromosomal disorder (single reported case) where a portion of the short arm (p31.4-p22.1) of chromosome one is duplicated. The type and severity of symptoms is variable....more »
    1497. Dup(1) (p32-p21.2)
     A very rare chromosomal disorder where a portion of the short arm (p32-p21.2) of chromosome one is duplicated. The type and severity of symptoms is variable....more »
    1498. Dup(1) (p34.1-p31)
     A very rare chromosomal disorder where a portion of the short arm (p34.1-p31) of chromosome one is duplicated....more »
    1499. Dup(1) (q24-q41)
     A very rare chromosomal disorder (two reported cases) where a portion of the long arm (q24-q41) of chromosome one is duplicated. The type and severity of symptoms may vary - one patient died soon after birth whereas the other survived with severe problems...more »
    1500. 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 »
    1501. Duplication 10q partial
     A very rare genetic disorder characterized by the duplication of genetic material from the long arm (q) of chromosome 10 - the genetic material occurs three times in body cells instead of the normal two. The type and severity of symptoms may vary consider...more »
    1502. 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 »
    1503. 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 »
    1504. 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 »
    1505. 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 »
    1506. Duplication of the thumb, unilateral biphalangeal
     A rare malformation where the two bones in one thumb are duplicated....more »
    1507. 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 »
    1508. Dursun Syndrome
     A rare syndrome characterized mainly by the association of heart anomalies, pulmonary hypertension and leukopenia (reduced number of white blood cells)....more »
    1509. Dwarfism
     Short stature. There are several types of dwarfism: acromelic (short hand and foot bones), mesomelic (short forearm and lower leg bones) and rhizomelic (short upper arm and leg bones)....more »
    1510. Dwarfism -- bluish sclerae
     A form of dwarfism that also involves the presence of bluish sclera (due to abnormally thin sclera)....more »
    1511. Dwarfism -- stiff joint -- ocular abnormalities
     A very rare form of dwarfism characterized by short stature as well as stiff joints and eye abnormalities....more »
    1512. Dwarfism -- syndesmodysplasic
     A very rare form of dwarfism involving extremely short stature and progressive joint stiffness....more »
    1513. Dwarfism -- tall vertebrae
     A rare form of dwarfism characterized by short stature as well as unusually tall vertebrae and hip deformities....more »
    1514. Dwarfism -- thin bones -- multiple fractures
     A rare form of dwarfism characterized by short stature as well as thin bones that are prone to fractures....more »
    1515. 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 »
    1516. 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 »
    1517. Dyggve-Melchior-Clausen Syndrome
     A rare genetic bone growth disorder characterized by short stature and other skeletal deformities....more »
    1518. Dykes-Markes-Harper syndrome
     A very rare syndrome characterized mainly by dry, scaly skin, enlarged liver and spleen and a incoordination....more »
    1519. 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 »
    1520. Dyschondrosteosis -- nephritis
     A very rare syndrome characterized mainly by abnormal bone development and kidney disease....more »
    1521. Dysequilibrium syndrome
     A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination....more »
    1522. 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 »
    1523. Dysgnathia complex
     A very rare disorder characterized by a small or absent jaw, ear abnormalities and a small mouth and tongue. The severity and range of symptoms is variable....more »
    1524. Dysgraphia
     Difficulty with writing....more »
    1525. Dysharmonic skeletal maturation -- muscular fiber disproportion
     A very rare syndrome characterized mainly by abnormal bone development and muscle problems....more »
    1526. 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 »
    1527. Dyskeratosis Congenita
     A rare genetic disorder characterized by sking pigmentation abnormalities, nail dystrophy and mucous membrane changes....more »
    1528. 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 »
    1529. 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 »
    1530. 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 »
    1531. 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 »
    1532. 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 »
    1533. 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 »
    1534. 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 »
    1535. 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 »
    1536. 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 »
    1537. 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 »
    1538. Dysmorphism -- abnormal vocalization -- mental retardation
     A very rare syndrome characterized mainly by mental retardation, facial abnormalities and an abnormal voice....more »
    1539. 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 »
    1540. Dysostosis
     Defective bone development. It can result in missing bones, extra bone, shortened bones or other bone abnormalities. Further symptoms depend on the type of abnormality....more »
    1541. 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 »
    1542. Dysostosis peripheral
     A rare condition characterized by malformed bones in the hands and feet. The severity of the malformation is variable....more »
    1543. Dysplastic cortical hyperostosis
     A very rare syndrome characterized mainly by abnormal bone and brain development....more »
    1544. Dyssegmental dysplasia
     Any of a group of disorders characterized mainly by severe skeletal abnormalities. The type and severity of symptoms is variable as are the associated symptoms....more »
    1545. Dysthymia
     Mild form of depression...more »
    1546. Dystonia-Parkinsonism, Adult-Onset
     A rare condition characterized by the association of parkinsonism and dystonia due to a neurodegenerative disorder which progresses quickly....more »
    1547. Dystonias
     Muscle problems causing movement disorders...more »
    1548. 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 »
    1549. ECP syndrome
     A rare malformation syndrome characterized by a cleft palate and missing fingers....more »
    1550. EDS V
     A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility....more »
    1551. 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 »
    1552. 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 »
    1553. 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 »
    1554. Ear, patella, short stature syndrome
     A very rare inherited disorder abnormalities of the inner and outer ear structures, missing kneecap and short stature as well as other physical and developmental abnormalities....more »
    1555. Earache
     Pain in the ear called "otalgia"...more »
    1556. Early-onset Alzheimer's
     Early-onset Alzheimer's is a form of Alzheimer's disease that is linked to genetic defects or occurs in a familial pattern. It is not as common as the non-inherited form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a...more »
    1557. East Syndrome
     A rare syndrome characterized mainly by mental retardation, deafness, ataxia and electrolyte imbalance....more »
    1558. 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 »
    1559. Eccentrochondrodysplasia
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down....more »
    1560. 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 »
    1561. Ecstacy -- Teratogenic Agent
     There is evidence to indicate that exposure to Ecstacy 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 »
    1562. 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 »
    1563. Ectodermal dysplasia -- alopecia -- preaxial polydactyly
     A rare syndrome characterized by facial abnormalities, extra toes and sparse or absent hair....more »
    1564. Ectodermal dysplasia -- arthrogryposis -- diabetes mellitus
     A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities....more »
    1565. Ectodermal dysplasia -- blindness
     A rare syndrome characterized mainly be mental retardation, vision loss, short stature and teeth and hair abnormalities....more »
    1566. Ectodermal dysplasia -- ectrodactyly -- macular dystrophy
     A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers....more »
    1567. Ectodermal dysplasia -- hypohidrotic -- hypothyroidism -- ciliary dyskinesia
     A rare syndrome characterized by alopecia (A), nail problems (N), eye problems (O - ophthalmic), thyroid dysfunction (T), reduced sweating (H - hypohidrosis), freckles (E-ephelides), intestinal disease (E - enteropathy) and respiratory tract infections (R...more »
    1568. 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 »
    1569. 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 »
    1570. Ectodermal dysplasia -- neurosensory deafness
     A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis....more »
    1571. 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 »
    1572. Ectodermal dysplasia mental retardation syndactyly
     A rare syndrome characterized by mental retardation, webbed fingers and hair, nail and teeth abnormalities....more »
    1573. Ectodermal dysplasia trichoodontoonychial type
     A rare syndrome characterized by nail, tooth and hair abnormalities....more »
    1574. Ectodermal dysplasia with natal teeth, Turnpenny type
     A rare syndrome characterized mainly by missing teeth, sparse hair and dark velvety skin patches called acanthosis nigricans. The skin patches usually disappears during the second decade and may reoccur during pregnancy....more »
    1575. 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 »
    1576. Ectodermal dysplasia, anhidrotic with T-cell immunodeficiency, autosomal dominant
     An inherited disorder characterized by dry, rough skin, sparse scalp hair, cone-shaped teeth and an immune system disorder....more »
    1577. 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 »
    1578. 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 »
    1579. Ectodermal dysplasia, hypohidrotic, with immune deficiency
     A rare genetic disorder characterized inability to sweat, immune system problems and hair and teeth abnormalities....more »
    1580. 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 »
    1581. 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 »
    1582. 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 »
    1583. Ectrodactyly -- polydactyly
     A rare syndrome characterized primarily by extra digits, missing digits, cleft foot or cleft hand....more »
    1584. Ectrodactyly cleft palate syndrome
     A rare malformation syndrome characterized by a cleft palate and missing fingers....more »
    1585. 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 »
    1586. 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 »
    1587. Ectrodactyly, recessive form
     A rare recessively inherited disorder where missing fingers give the hands a "lobster-claw" appearance....more »
    1588. 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 »
    1589. 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 »
    1590. 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 »
    1591. Edentulism
     Without teeth...more »
    1592. Edinburgh malformation syndrome
     A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities....more »
    1593. 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 »
    1594. 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 »
    1595. 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 »
    1596. 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 »
    1597. Ehlers-Danlos syndrome
     A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group....more »
    1598. Ehlers-Danlos syndrome Type I
     A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing....more »
    1599. 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 »
    1600. 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 »
    1601. 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 »
    1602. 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 »
    1603. 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 »
    1604. 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 »
    1605. Ehlers-Danlos syndrome type V
     A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility....more »
    1606. 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 »
    1607. Ehlers-Danlos syndrome type VII
     A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and joint dislocations....more »
    1608. 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 »
    1609. 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 »
    1610. 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 »
    1611. 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 »
    1612. Ehlers-Danlos syndrome, cardiac valvular form
     A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility....more »
    1613. 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 »
    1614. 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 »
    1615. 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 »
    1616. 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 »
    1617. 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 »
    1618. 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 »
    1619. Ehlers-Danlos syndrome, progeroid form 2
     A rare genetic connective tissue disorder characterized by hypermobile joints, fragile skin, mental retardation and short stature....more »
    1620. Ehlers-Danlos syndrome, tenascin-X deficiency
     A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility....more »
    1621. 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 »
    1622. 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 »
    1623. 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 »
    1624. Eisenmenger Syndrome
     Increased lung blood pressure that can result from conditions such as a hole in the wall between the two heart chambers....more »
    1625. Elejalde syndrome
     A rare congenital syndrome characterized excessive fetal growth, skull abnormalities, extra fingers or toes and other abnormalities....more »
    1626. Ellis-van Creveld syndrome
    1627. 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 »
    1628. Emery-Nelson syndrome
     A rare condition characterized by a flat face and hand and foot abnormalities....more »
    1629. 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 »
    1630. Empty Sella Syndrome
     Congenital defect of the brain....more »
    1631. 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 »
    1632. Encephalo cranio cutaneous lipomatosis
     A rare genetic disorder characterized by craniofacial lipomas, cerebral atrophy and patches of alopecia....more »
    1633. Encephaloceles
     Improper protrusions of parts of the meninges and brain....more »
    1634. 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 »
    1635. Encephalopathy due to GLUT1 deficiency
     A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these met...more »
    1636. Encephalopathy progressive -- optic atrophy
     A rare birth disorder characterized by progressive brain disease, facial anomalies and eye problems....more »
    1637. Enchondromatosis-dwarfism-deafness
     A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development....more »
    1638. 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 »
    1639. Eng Strom syndrome
     A rare syndrome characterized by short stature and episodes of locked finger joints....more »
    1640. Engelhard-Yatziv syndrome
     A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities....more »
    1641. Enteric Anendocrinosis
     A congenital condition characterized by diarrhea and malabsorption resulting form a reduced number of enteroendocrine cells. Enteroendocrine cells are found mainly in the pancreas but also in the gastrointestinal tract and they produce various hormones ne...more »
    1642. Enterovirus antenatal infection
     Fetal infection with enterovirus. The condition is extremely rare but infection around the time of birth often results in death or paralysis in survivors. The type and severity of symptoms is determined by the exact type of virus involved and at what stag...more »
    1643. 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 »
    1644. Eosinophilic fasciitis
     A rare disorder where the skin on the limbs become painfully inflamed and looses it's elasticity....more »
    1645. Epidermal nevus -- vitamin D resistant rickets
     A rare syndrome characterized mainly by the presence of birth marks on the skin, bone abnormalities and mental retardation....more »
    1646. 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 »
    1647. Epidermoid carcinoma
     A non-small-cell type of lung cancer. The cancer develops from cells that line the inside of the lungs....more »
    1648. 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 »
    1649. 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 »
    1650. 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 »
    1651. Epidermolysis bullosa acquisita
     An acquired autoimmune skin condition characterized by blisters which cause scarring on the skin of joints and sometimes the skull....more »
    1652. 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 »
    1653. Epidermolysis bullosa dystrophica, dominant type
     A relatively mild form of the skin disease characterized by fragile, blistered skin....more »
    1654. 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 »
    1655. Epidermolysis bullosa simplex with mottled pigmentation
     A variant of a skin blistering disease which also involved a skin pigmentation anomaly....more »
    1656. 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 »
    1657. Epidermolysis bullosa, acquired
    1658. 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 »
    1659. 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 »
    1660. 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 »
    1661. 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 »
    1662. 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 »
    1663. 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 »
    1664. 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 »
    1665. 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 »
    1666. 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 »
    1667. 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 »
    1668. Epilepsy -- telangiectasia
     A rare syndrome characterized by the association of epilepsy with telangiectasias on the conjunctiva of the eyelids....more »
    1669. Epilepsy, Pyridoxine-Dependent
     A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication....more »
    1670. Epilepsy, X-linked -- learning disabilities -- behavior disorders
     An inherited syndrome characterized by epilepsy, behavioral disorders and learning disability. Patients may suffer various combinations of the disorder. The onset of seizures can vary from childhood to adulthood....more »
    1671. Epilepsy, pyridoxin-dependent
     A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication....more »
    1672. 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 »
    1673. Epimetaphyseal skeletal dysplasia
     A rare syndrome characterized mainly by abnormal bone development....more »
    1674. Epiphyseal dysplasia -- hearing loss -- dysmorphism
     A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....more »
    1675. Epiphyseal dysplasia dysmorphism camptodactyly
     A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....more »
    1676. 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 »
    1677. 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 »
    1678. 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 »
    1679. Epiphyseal stippling syndrome -- osteoclastic hyperplasia
     A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine....more »
    1680. Epoetin alfa -- Teratogenic Agent
     There is evidence to indicate that exposure to Epoetin alfa (used to treat some forms of anemia) 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 m...more »
    1681. Epogen -- Teratogenic Agent
     There is evidence to indicate that exposure to Epogen (used to treat some forms of anemia) 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 »
    1682. Eposin -- Teratogenic Agent
     There is evidence to indicate that exposure to Eposin (a chemotherapy 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...more »
    1683. 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 »
    1684. Erythema ab igne
    1685. Erythroblastosis fetalis
     A condition which is characterized by a hemolytic anaemia of the fetus due to transplacental transmission of antibodies...more »
    1686. Erythroderma
     Condition with thickening and flaking skin...more »
    1687. Erythroderma lethal congenital
     A rare disorder which results in death within a year of birth and involves skin and growth problems....more »
    1688. Erythrodermic eczema
     Erythrodermic eczema is a severe condition that results from worsening eczema....more »
    1689. Erythromelalgia
     A rare disorder characterized by periods of burning pain, redness and warmth in the feet and hands....more »
    1690. 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 »
    1691. Escobar syndrome, type B
     A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine....more »
    1692. Esmolol -- Teratogenic Agent
     There is evidence to indicate that exposure to Esmolol (a heart 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 level...more »
    1693. Esophageal Atresia and/or Tracheoesophageal Fistula
     A rare condition characterized by an underdeveloped esophagus where the esophagus is not connected to the stomach. An abnormal opening between the trachea and esophagus may or may not also be present. The two abnormalities usually occur together....more »
    1694. Esophageal atresia with tracheoesophageal fistula
     A rare condition characterized by an abnormal opening between the trachea and esophagus as well as an underdeveloped esophagus where the esophagus is not connected to the stomach....more »
    1695. Ethanol -- Teratogenic Agent
     There is evidence to indicate that exposure to Ethanol 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 »
    1696. 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 »
    1697. 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 »
    1698. Ethylmalonic aciduria
     A very rare inherited disorder characterized by neurological and vascular symptoms caused by an excessive buildup of ethylmalonic aciduria....more »
    1699. Etoposide -- Teratogenic Agent
     There is evidence to indicate that exposure to Etoposide (a chemotherapy 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 »
    1700. 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 »
    1701. Euhidrotic ectodermal dysplasia
     A rare syndrome characterized mainly by tooth, hair and facial abnormalities....more »
    1702. Excessive dieting
     Excessive limitation of food intake can lead to problems and effects such as dizziness, depression, intestinal problems, edema and impaired growth....more »
    1703. 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 »
    1704. Exostoses, multiple
     A rare genetic disorder characterized mainly by limb deformities and other skeletal abnormalities caused primarily by a disorder of the bone growth plates....more »
    1705. Exostoses, multiple, type 1
     Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type I differs from type II and III in the location of the genetic defect that causes the disorder. Type I tends to involve more bone growths and shorter arm and le...more »
    1706. Extrasystoles -- short stature -- hyperpigmentation -- microcephaly
     A rare syndrome characterized mainly by shortness, increased skin pigmentation, small head and...more »
    1707. Eye allergy
     Allergic of the eye is usually characterized by inflammation of the conjunctiva associated with itching, redness and watering of the eyes....more »
    1708. Eye defects -- arachnodactyly -- cardiopathy
     A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease....more »
    1709. 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 »
    1710. 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 »
    1711. FACES syndrome
     A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities....more »
    1712. FG Syndrome
     A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead....more »
    1713. 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 »
    1714. 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 »
    1715. 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 »
    1716. 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 »
    1717. 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 »
    1718. 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 »
    1719. 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 »
    1720. Facial clefting corpus callosum agenesis
     A rare syndrome characterized by the association of facial clefts with a brain defect where the structure between the two halves of the brain (corpus callosum) fails to develop. Symptoms may vary somewhat depending on how much of the corpus callosum is mi...more »
    1721. Facial dysmorphism -- intellectual deficit -- short stature -- hearing loss
     A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features....more »
    1722. Facial dysmorphism -- shawl scrotum -- joint laxity syndrome
     A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum....more »
    1723. Facio-auriculo-radial dysplasia
     A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm....more »
    1724. Facio-cardio-musculo-skeletal syndrome
     A rare syndrome characterized by facial, heart, muscle and skeletal abnormalities....more »
    1725. Faciocardiomelic Syndrome
     A syndrome reported in a family and characterized by various anomalies including mental retardation and bone abnoramlities....more »
    1726. Faciocardiomelic dysplasia, lethal
     A very rare lethal syndrome characterized by facial, heart and skeletal abnormalities....more »
    1727. Faciodigitogenital syndrome, recessive form
     A rare syndrome characterized by facial, digital and genital abnormalities....more »
    1728. Facioskeletalgenital syndrome, Rippberger type
     A rare syndrome characterized by facial, skeletal and genital abnormalities....more »
    1729. Faciothoracogenital syndrome
     A rare syndrome characterized by facial, chest and genital abnormalities....more »
    1730. 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 »
    1731. Failure To Thrive
     Slow growth or inadequate weight gain of an infant or child....more »
    1732. 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 »
    1733. 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 »
    1734. Falls
     When a person losses balance and falls over...more »
    1735. Familial Forms of Alzheimer's Disease
     Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour. Familial forms of the disease tend to run in families and are linked to mu...more »
    1736. Familial Selective Vitamin B12 Malabsorption
     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 »
    1737. Familial band heterotopia
     A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, a layer of brain tissue is abnormally located in the white matter....more »
    1738. 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 »
    1739. 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 »
    1740. Familial hypothyroidism
     Impaired thyroid activity that tends to run in families....more »
    1741. 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 »
    1742. Familial porencephaly
     A very rare developmental abnormality that tends to run in families and is characterized by a localized accumulation of cerebrospinal fluid in the brain. The severity of symptoms is determined by the size and location of the brain abnormality....more »
    1743. 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 »
    1744. 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 »
    1745. Fanconi anemia type C
     A rare inherited blood disorder characterized by a lack of blood cells (red and white blood cells and blood platelets)....more »
    1746. Fanconi pancytopenia
     A rare genetic disorder characterized by upper limb defects and kidney abnormalities....more »
    1747. Fanconi's syndrome
    1748. Fanconi-Albertini-Zellweger syndrome
     A rare syndrome characterized mainly by congenital heart defect, brain abnormalities, unusual face and metabolic acidosis....more »
    1749. 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 »
    1750. Fara-Chlupackova syndrome
     A rare syndrome characterized mainly by ear, face and neck abnormalities....more »
    1751. 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 »
    1752. 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 »
    1753. Fechtner syndrome
     A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes....more »
    1754. Felty Syndrome
     A rare complication of long-term rheumatoid arthritis which involves an enlarged spleen and blood abnormalities....more »
    1755. Female reproductive toxicity -- antineoplastic drugs
     There is some evidence which indicates that some women exposed to anticancer drugs may suffer adverse effects as a result. The exposure may occur through the obvious route of having to take the drug to treat cancer but may also inadvertently occur in work...more »
    1756. Femoral facial syndrome
     A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate....more »
    1757. 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 »
    1758. Fenton-Wilkinson-Toselano syndrome
     A rare syndrome characterized mainly by ataxia, light sensitivity and short stature....more »
    1759. Fernhoff-Blackston-Oakley syndrome
     A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities....more »
    1760. Fetal Hydantoin Syndrome
     A rare disorder caused by fetal exposure to phenytoin (anticonvulsant drug) and resulting in various abnormalities....more »
    1761. Fetal aminopterin syndrome
     A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate....more »
    1762. Fetal anticonvulsant syndrome
     Maternal use of anticonvulsants may increase the risk of the fetus developing birth defects. There is insufficient evidence to definitely conclude that maternal use of anticonvulsants is harmful to the fetus....more »
    1763. Fetal indomethacin syndrome
     Fetal exposure to indomethacin which is a nonsteroidal anti-inflammatory drug. The drug can pass through the placenta from the mother to the baby and cause various problems depending on what stage of development the fetus is at....more »
    1764. Fetal methylmercury syndrome
     Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta....more »
    1765. 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 »
    1766. Fetal ricin syndrome
     A condition that occurs in infants born to mothers who consumed castor oil seeds (Ricinus communis) as a form of contraception....more »
    1767. Fetal thalidomide syndrome
     The maternal use of thalidomide during pregnancy increases the risk of birth defects....more »
    1768. Fetal warfarin syndrome
     A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities....more »
    1769. Fetomaternal transfusion syndrome
     A rare disorder where the blood from the fetus enters the mothers blood circulation through the placenta. This leads to anemia in the newborn. The passage of large amounts of blood from the fetus near the end of the pregnancy can result in serious consequ...more »
    1770. Fibrochondrogenesis
     A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death....more »
    1771. 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 »
    1772. Fibula aplasia complex -- brachydactyly
     A very rare syndrome characterized mainly by short fingers small or absent fibula (calf bone) and other bone abnormalities....more »
    1773. Fibular aplasia -- ectrodactyly
     A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet....more »
    1774. Fibular hypoplasia or aplasia -- femoral bowing -- oligodactyly
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    1775. 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 »
    1776. Finger conditions
     Conditions that affect the fingers...more »
    1777. Finger sprain
     Damage to ligaments in a finger....more »
    1778. Finlay-Markes syndrome
     A very rare syndrome characterized mainly by scalp, nipple and ear abnormalities....more »
    1779. Finnish lethal neonatal metabolic syndrome
     A very rare lethal metabolic disorder characterized by a deficiency of complex III which causes brain, kidney and liver problems and ultimately results in early death....more »
    1780. 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 »
    1781. Fitzsimmons-Guilbert syndrome
     A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly....more »
    1782. Fitzsimmons-McLachlan-Gilbert syndrome
     A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles....more »
    1783. Fitzsimmons-Walson-Mellor syndrome
     A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness....more »
    1784. Fleisher syndrome
     A rare inherited condition characterized by a deficiency of growth hormones and reduced blood levels of antibodies in the blood....more »
    1785. Floating Harbor Syndrome
     A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay....more »
    1786. Floppy infant syndrome
     A term used to describe reduced muscle tone and muscle weakness in infants....more »
    1787. Flunitrazepam -- Teratogenic Agent
     There is evidence to indicate that exposure to Flunitrazepam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    1788. 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 »
    1789. Fluphenazine -- Teratogenic Agent
     There is evidence to indicate that exposure to Fluphenazine (an antipsychotic 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 »
    1790. 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 »
    1791. Flurbiprofen -- Teratogenic Agent
     There is evidence to indicate that exposure to Flurbiprofen 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 »
    1792. Fluvoxamine maleate -- Teratogenic Agent
     There is evidence to indicate that exposure to Fluvoxamine maleate 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 »
    1793. 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 »
    1794. 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 »
    1795. Folic Acid Deficiency -- Teratogenic Agent
     There is evidence to indicate that a deficiency of Folic 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 level of expo...more »
    1796. Follicular hamartoma -- alopecia -- cystic fibrosis
     A rare syndrome characterized by small benign growths that develop in hair follicles, alopecia and cystic fibrosis....more »
    1797. 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 »
    1798. 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 »
    1799. Food Allergy -- wheat
     A wheat allergy is an adverse reaction by the body's immune system to wheat or food containing wheat. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with the allergen. The specific symptoms that...more »
    1800. Food allergies
     Immune over-reaction to an eaten food....more »
    1801. Forbes disease
     A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles....more »
    1802. Forbes-Albright syndrome
     A rare condition where a hormone secreting pituitary or hypothalamic tumor causes galactorrhea and amenorrhea....more »
    1803. Formaldehyde -- Teratogenic Agent
     There is strong evidence to indicate that the use of Formaldehyde during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of...more »
    1804. Forney Robinson Pascoe syndrome
     A rare condition characterized by skeletal abnormalities, deafness and mitral regurgitation....more »
    1805. 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 »
    1806. Fowler-Christmas-Chapple syndrome
     A rare syndrome characterized by the association of polycystic ovaries with the abnormal functioning of the urinary valve....more »
    1807. Fox-Fordyce Disease
     A rare disorder where sweat trapped in the sweat glands results in itching inflammation of the involved tissue...more »
    1808. Fragile-X Syndrome
     A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females....more »
    1809. 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 »
    1810. Francois dyscephalic syndrome
     A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis....more »
    1811. Frank-Ter Haar syndrome
     A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities....more »
    1812. 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 »
    1813. Fraser-like syndrome
     A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities....more »
    1814. Frasier syndrome
     A rare syndrome involving kidney disease and male pseudohermaphrodism (genetic male with some female sex organs). Kidney failure can occur as early as adolescence....more »
    1815. 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 »
    1816. Frias syndrome
     A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies....more »
    1817. Fried-Goldberg-Mundel syndrome
     A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males....more »
    1818. 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 »
    1819. 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 »
    1820. 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 »
    1821. Frontometaphyseal dysplasia
     A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles....more »
    1822. Frontonasal dysplasia -- phocomelic upper limbs
     A very rare syndrome characterized mainly by short arms, facial anomalies and various other abnormalities....more »
    1823. Frontotemporal dementia
     A degenerative brain disease involving frontal and temporal brain lobes resulting in dementia. Degeneration of the frontal lobe causes behavioral and personality changes degeneration of the temporal lobe causes semantic dementia....more »
    1824. Frontotemporal dementia, ubiquitin-positive
     A rare inherited neurodegenerative disorder characterized primarily by progressive social, behavioral and language deterioration due to changes in the frontotemporal portion of the brain....more »
    1825. Froster-Iskenius-Waterson syndrome
     A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles....more »
    1826. Fryns Syndrome
     A rare genetic disorder characterized by diaphragmatic abnormalities, coarse face and abnormal growth or development of ends of fingers and toes....more »
    1827. Fryns-Aftimos syndrome
     A rare syndrome characterized mainly by abnormal brain development, epilepsy, mental retardation and unusual facial appearance....more »
    1828. 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 »
    1829. Fryns-Smeets-Thiry syndrome
     A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities....more »
    1830. 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 »
    1831. 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 »
    1832. Fuhrmann syndrome
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    1833. Fuhrmann-Rieger-de Sousa syndrome
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    1834. Fukuda-Miyanomae-Nakata syndrome
     A rare syndrome characterized mainly tooth, bone and nail abnormalities as well as anal and urethral anomalies....more »
    1835. 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 »
    1836. 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 »
    1837. 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 »
    1838. Fungal nail infections
     Fungal conditions of the toenail or fingernail...more »
    1839. GAPO syndrome
     A rare condition characterized by retarded growth, alopecia, otpic atrophy and failure of teeth to erupt....more »
    1840. GEMSS syndrome
     A rare syndrome characterized mainly by stiff joints, short stature, glaucoma and a dislocated eye lens....more »
    1841. 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 »
    1842. 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 »
    1843. 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 »
    1844. Game-Friedman-Paradice syndrome
     A rare condition characterized by retarded growth, hydrocephaly, underdeveloped lungs and various other anomalies. The condition was observed in four offspring from one family....more »
    1845. 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 »
    1846. Ganglion cyst
     Cyst affecting the sheath of tendons...more »
    1847. 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 »
    1848. 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 »
    1849. Gardner-Morrisson-Abbot syndrome
     A rare syndrome characterized by thrombocytopenia and various other abnormalities present at birth....more »
    1850. 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 »
    1851. 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 »
    1852. 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 »
    1853. Gay-Feinmesser-Cohen syndrome
     A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx....more »
    1854. Geleophysic dwarfism
     A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities....more »
    1855. Gene-Wiedemann syndrome
     An extremely rare birth disorder characterized by mental retardation and a variety of physical defects....more »
    1856. Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones
     A recessively inherited disorder characterized by short stature, mental retardation, deafness, slender bones and degeneration of the body's fat tissue....more »
    1857. 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 »
    1858. Generalized pustular psoriasis of pregnancy
     A form of psoriasis that occurs during the third trimester of pregnancy and is characterized by pustules rather the skin bumps. The skin under and around the pustules is red and variable areas of skin may be involved. The pustules tends to occur in locali...more »
    1859. 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 »
    1860. Genital herpes
     Sexually transmitted infection of the genital region....more »
    1861. Genoa syndrome
     A rare disorder characterized mainly by premature fusion of skull bones and partial separation of the two brain halves....more »
    1862. German syndrome
     A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities....more »
    1863. 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 »
    1864. 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 »
    1865. 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 »
    1866. Gerstmann's Syndrome
     Brain defect causing various cognitive problems....more »
    1867. 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 »
    1868. Ghosal syndrome
     A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities....more »
    1869. Gigantism
     A rare endocrine disorder where excess growth hormone is produced prior to puberty....more »
    1870. 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 »
    1871. Gitelman syndrome
     A rare, relatively mild, genetic kidney disorder that causes hypokalemia. The defective gene (NCCT) impairs the function of the Na-Cl cotransporter....more »
    1872. 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 »
    1873. Glaucoma ectopia microspherophakia stiff joints short stature
     A rare, dominantly inherited syndrome characterized mainly by stiff joints, short stature, glaucoma and a dislocated eye lens....more »
    1874. 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 »
    1875. 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 »
    1876. 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 »
    1877. 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 »
    1878. 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 »
    1879. 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 »
    1880. 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 »
    1881. 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 »
    1882. 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 »
    1883. 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 »
    1884. Global developmental delay -- osteopenia -- ectodermal defect
     A rare syndrome characterized by developmental delay, osteopenia and skin anomalies....more »
    1885. Glomerular Disease
     Condition affecting the glomerules in the kidney....more »
    1886. Glomerulonephritis -- sparse hair -- telangiectases
     A rare syndrome characterized by sparse hair, kidney disease and enlarged skin blood vessels (telangiectasia)....more »
    1887. 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 »
    1888. 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 »
    1889. Glucose transport defect, blood-brain barrier
     A rare metabolic disorder involving a deficiency of a molecule needed to transport glucose (GLUT1). The glucose is unable to be transported from the blood and into the brain and cerebrospinal fluid. Sugar transport to the brain is essential for normal dev...more »
    1890. Glucose-6-Phosphate Dehydrogenase Deficiency
     A rare enzyme abnormality involving a deficiency of the glucose-6-phosphate dehydrogenase which causes premature destruction of red blood cells. The excessive destruction of red blood cells can be triggered by certain infections or drugs or by eating fava...more »
    1891. Glut-1 Deficiency Syndrome
     A condition which is characterized by a deficiency of the GLUT-1 transported of cells...more »
    1892. 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 »
    1893. 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 »
    1894. Glutaric Acidemia Type I
     A condition which results in an inability to process the amino acids lysine, hydroxylysine and tryptophan...more »
    1895. Glutaric Acidemia Type II
     A condition which is characterized by an inability of the body to use fats and proteins of the body for energy...more »
    1896. Glutaric aciduria 1
     A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these met...more »
    1897. 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 »
    1898. Glutaricaciduria type 1
     A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these met...more »
    1899. Gluten allergy
     Gluten allergy is an adverse reaction by the body's immune system to gluten or foods containing gluten. The specific symptoms that can result can vary considerably amongst patients from a severe anaphylactic reaction to asthma, abdominal symptoms, eczema ...more »
    1900. Glycine encephalopathy, atypical mild form
     A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system. The atypical mild form tends to be quite mild and can be difficult to diagnose due to the nonspecific symptoms....more »
    1901. Glycine synthase deficiency
     A rare genetic disorder characterized by high blood glycine levels which is toxic to the body. The severity of the condition varies according to the degree of deficiency and age of onset. The classical neonatal form is generally quite severe, the atypical...more »
    1902. Glycine synthase deficiency, type 1
     A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the P protein (pyridoxal phosphate-dependent glycine decarboxylase) in the energy creating center of cells (mitochondria)....more »
    1903. Glycine synthase deficiency, type 2
     A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the T protein (tetrahydrofolate-requiring enzyme) in the energy creating center of cells (mitochondria)....more »
    1904. Glycogen branching deficiency
     A rare metabolic disorder where an enzyme deficiency (glycogen branching enzyme) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enz...more »
    1905. Glycogen debranching deficiency
     A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme ...more »
    1906. Glycogen storage disease type 1C
     A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal phosphate) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to conve...more »
    1907. Glycogen storage disease type 1D
     A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal glucose transporter) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body need...more »
    1908. Glycogen storage disease type 6
     A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver....more »
    1909. Glycogen storage disease type 6A, due to phosphorylase kinase deficiency
     A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase kinase leads to hypoglycemia and accumulation of glycogen in the liver. Phosphorylase kinase deficiency can cause glycogen storage disease type VIa and/o...more »
    1910. Glycogen storage diseases
     A condition which is characterized by a defect in the ability of the body to store glycogen...more »
    1911. Gms syndrome
     A rare syndrome characterized by mental retardation, short stature and an eye abnormality....more »
    1912. Gold Sodium Thiomalate -- Teratogenic Agent
     There is evidence to indicate that exposure to Gold Sodium Thiomalate 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...more »
    1913. Goldberg-Shprintzen megacolon syndrome
     A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines....more »
    1914. Goldblatt-Wallis syndrome
     A very rare syndrome characterized by mental retardation and an abnormally placed urethral opening in males....more »
    1915. Golden-Lakin syndrome
     A rare syndrome characterized by a webbed neck, sunken chest, curved spine and various other abnormalities....more »
    1916. 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 »
    1917. Gollop syndrome
     A rare syndrome characterized mainly by eye, ear, facial and nasal abnormalities....more »
    1918. Gomez and Lopez-Hernandez syndrome
     A rare genetic condition characterized by various abnormalities such as mental deficiency, small head, short stature, eye problems and movement problems....more »
    1919. Gonadal dysgenesis XY type associated anomalies
     A very rare syndrome characterized mainly by a large range of variable physical abnormalities and gonad anoamlies....more »
    1920. Gonadotropin-dependent precocious puberty
     A rare disorder affecting females where premature puberty occurs due to premature release of gonadotropin hormones....more »
    1921. Goossens-Devriendt syndrome
     A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers....more »
    1922. Gordan-Overstreet syndrome
     A rare variant of Turner syndrome....more »
    1923. 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 »
    1924. Gorlin-Chaudhry-Moss Syndrome
     A very rare inherited condition involving various physical and mental abnormalities....more »
    1925. 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 »
    1926. Gout
     Painful joints, most commonly the big toe....more »
    1927. Gracile bone dysplasia
     An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities....more »
    1928. Graeck-Imerslund disease
    1929. 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 »
    1930. Grant syndrome
     A rare genetic condition characterized by short stature, skeletal abnormalities and blue sclerae....more »
    1931. Granuloma annulare
     A harmless skin disease characterized by raised, bumpy, ring-shaped skin lesions....more »
    1932. 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 »
    1933. 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 »
    1934. 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 »
    1935. Greenberg dysplasia
     A very rare form of short-limbed dwarfism....more »
    1936. Greig Cephalopolysyndactyly Syndrome
     A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities....more »
    1937. 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 »
    1938. 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 »
    1939. Grix-Blankenship-Peterson syndrome
     A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities....more »
    1940. 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 »
    1941. 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 »
    1942. 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 »
    1943. 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 »
    1944. Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
     A rare syndrome characterized mainly by mental retardation, retarded growth, small head, cleft palate and facial abnormalities....more »
    1945. Growth deficiency brachydactyly unusual facies
     A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies....more »
    1946. Growth delay -- mental retardation -- mandibulofacial dysostosis -- microcephaly -- cleft palate
     A rare syndrome characterized by delayed growth, mental retardation, small head, cleft palate and facial and jaw anomaly....more »
    1947. Growth delay due to insulin-like growth factor I deficiency
     A rare disorder where the deficiency of a growth factor (IGF-1) causes growth delay, deafness and mental retardation....more »
    1948. Growth delay due to insulin-like growth factor I resistance
     A rare genetic disorder where there is sufficient growth hormone produced but the body is insensitive or unable to respond to it....more »
    1949. Growth plate injuries
     Injury to the growing ends of young bones....more »
    1950. Growth retardation mental retardation phalangeal hypoplasia
     A rare syndrome characterized mainly by retarded growth, mental retardation and underdeveloped digits....more »
    1951. 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 »
    1952. Guizar-Vasquez-Sanchez-Manzano syndrome
     A rare syndrome characterized by loose joints, chest deformity and unusual facial appearance....more »
    1953. Gum disorders
     Any disorder the affects the gums of the human mouth...more »
    1954. Gurrieri-Sammito-Bellussi syndrome
     A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities....more »
    1955. HADH deficiency
     A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activit...more »
    1956. 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 »
    1957. HARD syndrome
     A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities....more »
    1958. HEC syndrome
     A very rare syndrome characterized mainly by excess fluid inside the skull, cataracts and thickening of the heart....more »
    1959. HEM dysplasia
     A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death....more »
    1960. 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 »
    1961. Haas-Robinson syndrome
     A rare, recessively inherited disorder involving defective copper metabolism within the body which causes symptoms such as mental retardation, seizures and poor muscle tone....more »
    1962. 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 »
    1963. 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 »
    1964. Halal Setton Wang syndrome
     A very rare syndrome characterized mainly by eye, teeth, nail and skin abnormalities....more »
    1965. Halal syndrome
     A very rare syndrome characterized mainly by a small head and a cleft palate....more »
    1966. Hall-Riggs mental retardation syndrome
     A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities....more »
    1967. Hamman-Rich syndrome
     A rare acute lung disease where the lung sufferers progressive inflammation and fibrosis which often leads to death....more »
    1968. Hand conditions
     Any condition that affects the hand...more »
    1969. Hand injury
     Any injury to the hand...more »
    1970. Hand neuropathy
     Neuropathy (nerve damage) affecting the hands...more »
    1971. Hand, Foot, & Mouth Disease
     Common contagious viral infant or child condition...more »
    1972. Hand-foot-uterus syndrome
     A rare genetic condition characterized by hand, foot and uterus abnormalities....more »
    1973. Hanhart Syndrome
     An autosomal recessive disorder due to a deficiency in the body of the tyrosine amino transferase enzyme....more »
    1974. Hanhart syndrome type I
     A rare genetic disorder characterized by retarded growth, impaired libido, distinctive facial features, delayed puberty and excess fatty deposits in breast and abdominal area....more »
    1975. Hanhart syndrome type II
     A rare genetic disorder characterized by retarded growth, distinctive facial features, delayed puberty, excess fatty deposits in breast and abdominal area, small jaw , small tongue, hand and foot deformities and missing teeth....more »
    1976. Hapnes-Boman-Skeie syndrome
     A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally....more »
    1977. Hardikar syndrome
     A very rare disorder characterized by obstructive liver disease, cleft lip, cleft palate, eye and urogenital abnormalities....more »
    1978. Harper dwarfism
     A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome....more »
    1979. Harrod Doman Keele syndrome
     A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities....more »
    1980. Haspeslagh Fryns Muelenaere syndrome
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    1981. Havlikova syndrome
     A rare familial disorder involving liver, spleen and pancreatic problems....more »
    1982. Hay-Wells Syndrome
     A rare genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate....more »
    1983. 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 »
    1984. Head lice
     Small lice infesting the hair and head....more »
    1985. Heart cancer
     A malignancy that is located in the heart...more »
    1986. Heart defect, tongue hamartoma and polysyndactyly
     A very rare syndrome characterized mainly by webbed fingers, congenital heart defects and tongue tumors....more »
    1987. Heart defects -- limb shortening
     A very rare syndrome characterized mainly by short limbs and heart defects....more »
    1988. Heart-hand syndrome, Slovenian type
     A rare disorder characterized by heart and hand abnormalities....more »
    1989. Heart-hand syndrome, Spanish type
     A very rare syndrome characterized mainly by heart and hand abnormalities....more »
    1990. Heiner syndrome
     A disease caused by the precipitation in the blood of antibodies to cow's milk....more »
    1991. Hemoglobin S/hemoglobin Lepore, Boston
     A blood disorder that mainly causes hemolytic anemia with great variability of symptoms....more »
    1992. 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 »
    1993. Hemolytic disease of the newborn
     Blood disease in newborns mainly related to Rh incompatibility...more »
    1994. 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 »
    1995. 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 »
    1996. Hepatoblastoma
     A primary malignant liver tumor which is rare in infants and children....more »
    1997. 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 »
    1998. 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 »
    1999. 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 »
    2000. Hereditary koilonychia
     An inherited anomaly where the nails are flattened or concave-shaped rather than the normal curved shape....more »
    2001. Hereditary methemoglobinemia, recessive, type II
     A rare inherited blood disorder where the hemoglobin (the oxygen-carrying part of red blood cells) can't bind with oxygen which impairs the oxygen supply to parts of the body, especially during exertion when more oxygen is needed by the body. The type II ...more »
    2002. 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 »
    2003. Hereditary nodular heterotopia
     A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, nodules of brain tissue is in various parts of the brain....more »
    2004. Hereditary pyropoikilocytosis
     A rare inherited condition where abnormal red blood cells are very sensitive to heat resulting in their destruction and hence, hemolytic anemia....more »
    2005. Hereditary sensory and autonomic neuropathy 3
     A very rare inherited disorder affecting the peripheral and autonomic nervous system and characterized by reduced tear production, excessive sweating, poor body temperature control, blood pressure problems, impaired sensation and poor muscle control....more »
    2006. Heroin -- Teratogenic Agent
     There is evidence to indicate that exposure to Heroin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and...more »
    2007. Heroin dependence
     The physical and psychological dependence to the recreational drug heroin...more »
    2008. Herpes virus antenatal infection
     Transmission of the herpes virus from the mother to the baby during the fetal stage....more »
    2009. 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 »
    2010. 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 »
    2011. Herpes, Neonatal -- Disseminated
     Disseminated neonatal herpes is a widespread 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 transmit...more »
    2012. Herpetic embryopathy
     Transmission of the herpes virus from the mother to the baby during the fetal stage....more »
    2013. Herrmann Opitz arthrogryposis syndrome
     A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature....more »
    2014. Herrmann syndrome
     A rare disorder characterized by deafness, diabetes, kidney disease, brain dysfunction and muscle spasms....more »
    2015. Herrmann-Opitz craniosynostosi
     A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance....more »
    2016. Hersh-Podruch-Weisskopk syndrome
     A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness....more »
    2017. Heterotopia, Periventricular, Associated with Chromosome 5q Deletion
     A brain anomaly linked to a defect on chromosome 5q and characterized mainly by severe mental retardation and epilepsy....more »
    2018. Heterotopia, periventricular, autosomal recessive
     A rare, recessively inherited developmental brain abnormality. Type 2 is caused by a defect on chromosome 20q13.13....more »
    2019. 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 »
    2020. Hidrotic ectodermal dysplasia, type Christianson-Fourie
     A very rare syndrome characterized mainly by hair and nail abnormalities....more »
    2021. 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 »
    2022. Hirschsprung's disease
     A rare condition where abnormalities in the bowel muscles prevent it from contracting normally and pushing the fecal matter through which results in obstruction and dilation of the bowel....more »
    2023. Histidinuria, renal tubular defect
     A very rare syndrome where a kidney defect causes high levels of histidine in the urine....more »
    2024. Ho Kaufman-Mcalister syndrome
     A rare congenital disorder characterized by congenital heart disease, skeletal abnormalities and a cleft palate....more »
    2025. Holoprosencephaly -- caudal dysgenesis
     A very rare syndrome where the tailbone and the portion above the tailbone (coccyx and sacrum) fail to develop. The brain also fails to divide into two lobes resulting in a single-lobed brain...more »
    2026. 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 »
    2027. 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 »
    2028. 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 »
    2029. Holzgreve-Wagner-Rehder syndrome
     A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies....more »
    2030. Homocystinuria
     A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body....more »
    2031. 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 »
    2032. 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 »
    2033. 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 »
    2034. Homologous wasting disease
     A term used to describe the disease state resulting from a graft versus host reaction. Graft versus host reaction occurs when the immune system of a transplant patient attacks the transplanted tissue but in homologous wasting disease the immune cells in t...more »
    2035. Hooft disease
     A rare disorder characterized by mental and physical retardation, red rash and low blood lipid level....more »
    2036. Hoon-Hall syndrome
     A very rare syndrome characterized mainly by dislocated joints and various other skeletal abnormalities....more »
    2037. Houlston ironton temple syndrome de
     A rare syndrome characterized by forearm abnormality, heart defect and an eye anomaly called blepharophimosis....more »
    2038. Howard-Young syndrome
     A very rare syndrome characterized mainly by a small head, facial cleft and an extra big toe....more »
    2039. Hoyeraal-Hreidarsson syndrome
     A very rare syndrome characterized mainly by retarded growth, a small head, anemia, immunodeficiency and an underdeveloped brain (cerebellum)....more »
    2040. Human HOXA1 Syndromes
     Human HOXA1 syndromes are very rare conditions caused by genetic defects involving the HOXA1 gene. The severity of the condition is highly variable depending on the extent of the defect and inheritance pattern. The most severe form is Bosley-Salih-Alorain...more »
    2041. Humerospinal dysostosis -- congenital heart disease
     A very rare syndrome characterized mainly by various skeletal defects and heart disease which is present at birth....more »
    2042. 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 »
    2043. 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 »
    2044. 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 »
    2045. Hunter-McAlpine syndrome
     A very rare dominantly inherited syndrome characterized mainly by premature fusion of skull bones, mental retardation, small mouth, short stature and finger and toe anomalies....more »
    2046. Hunter-Mcdonald syndrome
     A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors....more »
    2047. Huntington's Disease
     Inherited disease causing progressive mental deterioration....more »
    2048. Hurler syndrome
    2049. Hurst-Hallam-Hockey syndrome
     A group of malformation described in a stillborn infant. Defects include leptomeningeal angiomatosis (abnormal blood vessels in sheath surrounding brain and spinal cord), heart disease, cleft lip and palate and brain abnormalities....more »
    2050. Hutchinson Gilford Syndrome
     A rare genetic disorder characterized by alopecia and senile-like appearance....more »
    2051. Hutterite cerebroosteonephrodysplasia syndrome
     A very rare disorder characterized by short stature and a severe degenerative brain disorder....more »
    2052. 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 »
    2053. Hydantoin -- Teratogenic Agent
     There is strong evidence to indicate that the use of Hydantoin during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of ex...more »
    2054. Hydranencephaly
     A very rare condition where fluid replaces a portion of the brain....more »
    2055. Hydroa vacciniforme
     A rare skin disorder characterized the development of crusting skin eruptions following exposure to the sun....more »
    2056. Hydrocephalus -- growth delay -- skeletal anomalies
     A very rare syndrome characterized mainly by retarded growth, buildup of fluid (cerebrospinal fluid) inside the skull and various skeletal anomalies....more »
    2057. Hydrocephalus -- growth retardation -- skeletal anomalies
     A very rare syndrome characterized mainly by retarded growth, buildup of fluid (cerebrospinal fluid) inside the skull and various skeletal anomalies....more »
    2058. Hydrocephalus autosomal recessive
     A rare, recessively inherited disorder where there is an abnormal buildup of fluid (cerebrospinal fluid) inside the skull....more »
    2059. Hydrocephalus obesity hypogonadism
     A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production....more »
    2060. Hydrochlorothiazide -- Teratogenic Agent
     There is evidence to indicate that exposure to Hydrochlorothiazide 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 »
    2061. Hydrolethalus syndrome
     A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly....more »
    2062. 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 »
    2063. 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 »
    2064. Hyper-IgE Syndrome
     A condition characterized by an excess of immunoglobulin E...more »
    2065. 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 »
    2066. 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 »
    2067. Hyperhidrosis
     The excessive perspiration from ones skin...more »
    2068. Hyperinsulinemic hypoglycemia, familial, 2
     A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their...more »
    2069. Hyperinsulinemic hypoglycemia, familial, 3
     A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their...more »
    2070. Hyperinsulinemic hypoglycemia, familial, 4
     A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their...more »
    2071. Hyperinsulinemic hypoglycemia, familial, 5
     A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their...more »
    2072. Hyperinsulinemic hypoglycemia, familial, 6
     A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their...more »
    2073. Hyperlysinemia, persistent
     A rare genetic disorder where the body lacks enzymes (lysine ketoglutarate reductase and saccharopine dehydrogenase) to metabolize lysine which then causes a harmful builds up of lysine in the blood and urine and saccharopins in the urine. Some patients a...more »
    2074. 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 »
    2075. Hyperopia
     Far-sightedness often requiring glasses...more »
    2076. 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 »
    2077. Hyperparathyroidism, neonatal severe primary
     A very rare disorder where high levels of parathyroid levels affects the body's use of calcium. The bones lack sufficiency calcification and become weak....more »
    2078. Hyperphalangism -- dysmorphy -- bronchomalacia
     A very rare syndrome characterized mainly by finger and toe abnormalities, unusual facial features and narrowed airways....more »
    2079. 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 »
    2080. Hyperreninemic Hypoaldosteronism, Familial 2
     A very rare genetic disorder where deficiency of a particularly chemical results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated....more »
    2081. Hypersecretion of growth hormone
    2082. 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 »
    2083. 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 »
    2084. Hypertension -- Teratogenic Agent
     There is strong evidence to indicate that the development of Hypertension 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 s...more »
    2085. 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 »
    2086. Hyperthermia induced defects
     A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction....more »
    2087. 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 »
    2088. 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 »
    2089. Hypertryptophanemia
     A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood....more »
    2090. Hyperventilation
     Excessively rapid breathing causing blood gas imbalances...more »
    2091. Hypoaldosteronism, familial
     A very rare genetic disorder where deficiency of a particularly chemical (aldosterone synthase) results in a deficiency of aldosterone. The condition can be severe enough to cause infant death unless the patient is diagnosed and treated....more »
    2092. Hypocalcemia
     Low levels of calcium in the blood...more »
    2093. 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 »
    2094. Hypochondroplasia
     A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood....more »
    2095. 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 »
    2096. Hypoglycemia
     Low blood sugar level...more »
    2097. Hypoglycemic attack
     Sudden onset of low blood sugar levels...more »
    2098. Hypogonadism -- mitral valve prolapse -- mental retardation
     A very rare syndrome characterized mainly by a heart disorder, hypogonadism and mental retardation....more »
    2099. Hypogonadism hypogonadotropic due to mutations in GR hormone
     Hypogonadism hypogonadotropic due to mutations in GR hormone is a condition where defects in the gene for gonadotropin-releasing hormone results in problems with sexual maturation during development. The symptoms may vary in severity depending on the degr...more »
    2100. Hypogonadotropic hypogonadism -- syndactyly
     A very rare syndrome characterized mainly by webbed toes and reduced gonad function....more »
    2101. 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 »
    2102. 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 »
    2103. Hypomelia -- mullerian duct anomalies
     A rare genetic disorder characterized by severely underdeveloped arms and uterine and vaginal abnormalities....more »
    2104. Hypomyelination -- congenital cataract
     A rare syndrome characterized by the association of congenital cataract with progressive neurological impairment due to progressive demyelination....more »
    2105. Hypomyelination and congenital cataract
     An inherited disorder characterized by congenital cataract and progressive neurological impairment due to reduced myelination of nerves....more »
    2106. Hypomyelination, Global Cerebral
     A rare brain disorder involving reduced myelination of part of the brain (cerebrum) caused by the deficiency of an enzyme (aspartate-glutamate carrier 1). The condition was reported in one female patient....more »
    2107. Hypoparathyroidism -- short stature -- mental retardation
     A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation....more »
    2108. Hypoparathyroidism X-linked
     Low parathyroid levels inherited in a X-linked manner and hence only males are symptomatic and females are asymptomatic carriers....more »
    2109. 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 »
    2110. Hypophosphatemia, Familial
     An inherited disorder involving low blood phosphate levels due to problems with the transport of phosphate and problems with vitamin D metabolism. Vitamin D and phosphates are not properly absorbed from the kidneys which can lead to bone problems if not t...more »
    2111. Hypophosphatemic rickets
     A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening....more »
    2112. Hypopituitarism -- micropenis -- cleft lip palate
     A very rare syndrome characterized mainly by low pituitary hormone level, small penis and a cleft lip and palate....more »
    2113. Hypopituitarism postaxial polydactyly
     A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger....more »
    2114. 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 »
    2115. 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 »
    2116. 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 »
    2117. 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 »
    2118. Hypotelorism -- cleft palate -- hypospadias
     A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes....more »
    2119. Hypothalamic hamartomas
     A benign congenital tumor that develops on or near the hypothalamus....more »
    2120. 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 »
    2121. Hypothyroidism -- Teratogenic Agent
     There is strong evidence to indicate that the development of hypothyroidism during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the...more »
    2122. Hypothyroidism -- dermoid cyst -- cleft palate
     A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities....more »
    2123. 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 »
    2124. Hypothyroidism postaxial polydactyly mental retardation
     A very rare syndrome characterized by abnormally low thyroid levels, extra digits, mental retardation and unusually facial appearance....more »
    2125. Hypotrichosis, syndactyly and retinal degeneration
     A rare syndrome characterized by reduced hair, syndactyly and retinal degeneration. The hand and finger anomalies are variable....more »
    2126. 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 »
    2127. 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 »
    2128. ICF syndrome
     A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies....more »
    2129. IMAGe syndrome
     A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities....more »
    2130. 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 »
    2131. 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 »
    2132. 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 »
    2133. Ichthyosis -- deafness -- mental retardation -- skeletal anomaly
     A rare disorder characterized by deafness, mental retardation, scaly skin and skeletal anomalies....more »
    2134. Ichthyosis -- mental retardation, Devriendt type
     A very rare syndrome characterized mainly by dry, rough, scaly skin and mental retardation....more »
    2135. 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 »
    2136. Ichthyosis and male hypogonadism
     A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads....more »
    2137. 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 »
    2138. Ichthyosis congenita, Harlequin fetus type
     A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits....more »
    2139. Ichthyosis congenita, harlequin type
     A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits....more »
    2140. 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 »
    2141. Ichthyosis male hypogonadism
     A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads....more »
    2142. Ichthyosis microphthalmos
     A rare genetic disorder characterized by dry scaly skin and small eyes....more »
    2143. 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 »
    2144. Ichthyosis tapered fingers midline groove up
     A very rare syndrome characterized by scaly skin and facial and finger anomalies....more »
    2145. 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 »
    2146. 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 »
    2147. 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 »
    2148. Idaho syndrome
     A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect....more »
    2149. 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 »
    2150. 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 »
    2151. Idiopathic edema
     A condition involving salt retention that isn't a result of impaired heart, kidney or liver function....more »
    2152. 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 »
    2153. Idiopathic myopathy
     A rare condition involving inflammation of the skeletal muscles which become weak and wasted....more »
    2154. Idiopathic pulmonary hemosiderosis
     A rare disorder involving bleeding into the lungs which can eventually cause damage to the lungs....more »
    2155. Idiopathic pulmonary hypertension
     A rare condition where sclerosis of the pulmonary arteries cause cyanosis, polycythemia and heart failure....more »
    2156. Iida-Kannari syndrome
     A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones....more »
    2157. Imaizumi Kuroki syndrome
     A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities....more »
    2158. Imerslund's Anemia
     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 »
    2159. Imerslund's Syndrome
     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 »
    2160. Imerslund-Najman-Grasbeck Anemia
     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 »
    2161. Imerslund-Najman-Grasbeck 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 »
    2162. Imerslund-Najman-Grasbeck Syndrome
     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 »
    2163. Immune defect due to absence of thymus
     A congenital disorder where the absence of the thymus results in immune system problems (deficiency of T-Lymphocytes). The thymus is involved in the production of mature functioning T-cells which fight infection....more »
    2164. Immunodeficiency due to defect in MAPBP-interacting protein
     A rare recessively inherited disorder caused by a defect in the gene for MAPBP-interacting protein on chromosome 1q22 which affect the immune system. The condition manifests as short stature, reduced skin pigmentation, coarse facial features and recurring...more »
    2165. 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 »
    2166. Impossible syndrome
     A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth....more »
    2167. 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 »
    2168. 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 »
    2169. Inborn urea cycle disorder
     A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic ...more »
    2170. Inclusion Body Myositis
     Progressive inflammatory muscle disease causing muscle weakness....more »
    2171. 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 »
    2172. Infant botulism food poisoning
     Very dangerous food poisoning needing medical attention....more »
    2173. Infant conditions
     Any condition that affects an infant...more »
    2174. Infant health conditions
     Medical conditions typically affecting infants (including newborns and babies under one year old)....more »
    2175. Infantile apnea
     A disorder where infants stop breathing temporarily....more »
    2176. Infantile colic
     Persistent infant crying without any obvious cause...more »
    2177. Infantile dysphagia
     Swallowing problems in infants....more »
    2178. 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 »
    2179. Infantile multisystem inflammatory disease
     A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis....more »
    2180. Infantile sialic acid storage disorder
     A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy....more »
    2181. Infantile spasms -- broad thumbs
     A very rare syndrome characterized mainly by spasms during infancy and broad thumbs....more »
    2182. Infex -- Teratogenic Agent
     There is evidence to indicate that exposure to Infex (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 level ...more »
    2183. 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 »
    2184. Ingrown nails
     Inward growth of finger-nails or toe-nails....more »
    2185. Inherited Hemolytic-Uremic Syndrome
     A condition which is characterized by thrombotic microangiography occurring with renal failure, hemolytic anemia and severe thrombocytopenia...more »
    2186. 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 »
    2187. Injury
     Any damage inflicted in the body...more »
    2188. 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 »
    2189. 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 »
    2190. Intellectual deficit -- short stature -- microcephaly -- eye anomalies
     A very rare syndrome characterized by the association of mild mental retardation, short stature, a small head and eye anomalies....more »
    2191. Interferon Alpha -- Teratogenic Agent
     There is evidence to indicate that exposure to Interferon Alpha 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 »
    2192. Interferon Beta -- Teratogenic Agent
     There is evidence to indicate that exposure to Interferon Beta 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 »
    2193. Intermediate cystinosis
     Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The intermediate form of cystinosis starts later than the nephropathic form but the symptoms are the same....more »
    2194. Intracranial aneurysms -- multiple congenital anomaly
     A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities....more »
    2195. 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 »
    2196. Intrauterine growth retardation -- metaphyseal dysplasia -- adrenal hypoplasia congenita -- genital anomalies
     A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities....more »
    2197. 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 »
    2198. Intrinsic factor, congenital deficiency of
     A very rare disorder where a deficiency of a protein called intrinsic factor prevents vitamin B12 from being absorbed from the stomach. Thus, vitamin B12 deficiency occurs which leads to anemia....more »
    2199. 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 »
    2200. 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 »
    2201. Iodine -- Teratogenic Agent
     There is evidence to indicate that exposure to Iodine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and...more »
    2202. Iris dysplasia hypertelorism deafness
     A very rare syndrome characterized mainly by widely spaced eyes, deafness and an abnormality of the iris of the eye....more »
    2203. Iris dysplasia with ocular hypertelorism, psychomotor retardation and sensorineural deafness
     A rare syndrome characterized by wide-set eyes, psychomotor retardation, deafness and an eye abnormality....more »
    2204. 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 »
    2205. 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 »
    2206. Ischiadic hypoplasia -- renal dysfunction -- immunodeficiency
     A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped...more »
    2207. Isobutyric aciduria
     An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and s...more »
    2208. Isobutyryl-coenzyme A dehydrogenase deficiency
     An extremely rare genetic condition where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine....more »
    2209. Isolated Growth Hormone Deficiency, Type IB
    2210. 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 »
    2211. 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 »
    2212. Isotretinoin embryopathy like syndrome
     A very rare syndrome which causes the same abnormalities and deformities that occur in fetal exposure to maternal use of isotretinoin....more »
    2213. Ivemark Syndrome
     A rare progressive disorder characterized by absence or abnormal development of the spleen and malformations of the heart vessels....more »
    2214. Ives-Houston syndrome
     A rare inherited syndrome characterized by retarded fetal growth, small head, malformed limbs and death before or soon after birth....more »
    2215. 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 »
    2216. 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 »
    2217. 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 »
    2218. 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 »
    2219. Jaffer-Beighton syndrome
     A rare inherited syndrome characterized by loose joints, slipped vertebrae and long, thin fingers....more »
    2220. Jansen type metaphyseal chondrodysplasia
     A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities....more »
    2221. Jequier-Kozlowski-skeletal dysplasia
     A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies....more »
    2222. 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 »
    2223. Jeune syndrome -- situs inversus
     A very rare syndrome characterized mainly by short-limbed dwarfism, small chest, abnormally placed internal organs and various other abnormalities....more »
    2224. 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 »
    2225. 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 »
    2226. Johanson-Blizzard Syndrome
     A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness....more »
    2227. 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 »
    2228. 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 »
    2229. Jones-Hersh-Yusk syndrome
     A rare congenital disorder characterized by missing toes, cleft palate, blistered skin and absent patches of skin at birth....more »
    2230. 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 »
    2231. Jorgenson-Lenz syndrome
     A very rare syndrome characterized mainly by joint problems, mental retardation and various eye and other anomalies....more »
    2232. Joubert Syndrome
     A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance....more »
    2233. 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 »
    2234. 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 »
    2235. 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 »
    2236. 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 »
    2237. 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 »
    2238. 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 »
    2239. 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 »
    2240. 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 »
    2241. 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 »
    2242. Juberg-Marsidi syndrome
     A very rare inherited disorder characterized by severe mental retardation, delayed developmental milestones, muscle problems and growth retardation. The range and severity of symptoms is variable....more »
    2243. Judge-Misch-Wright syndrome
     A very rare syndrome characterized mainly by thickened skin on palms and soles as well as around the mouth....more »
    2244. 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 »
    2245. Jumping Frenchmen of Maine
     A rare condition where the startle reflex is greatly exaggerated. The startle reflex in this order is characterized by jumping, raising the arms, yelling, hitting, obeying sudden commands and repeating sentences....more »
    2246. Jung-Wolff-Back-Stahl syndrome
     A very rare syndrome characterized mainly by brain abnormalities, mental retardation and facial and skull anomalies....more »
    2247. 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 »
    2248. Juvenile Megaloblastic Anemia
     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 »
    2249. Juvenile Paget disease
     A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild....more »
    2250. 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 »
    2251. 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 »
    2252. Juvenile hyaline fibromatosis
     A rare inherited disease involving tumor-like deposits of a substance called hyaline in body tissues such as skin, gums, joints and bones. Hyalin is a collagen-like substance made by cells in the connective tissue....more »
    2253. Juvenile macular degeneration and hypotrichosis
     A very rare syndrome characterized mainly by hair loss and eye degeneration....more »
    2254. Juvenile macular degeneration, hypotrichosis
     A very rare syndrome characterized mainly by hair loss and eye degeneration....more »
    2255. Juvenile nephronophthisis
     A rare inherited kidney disorder characterized by formation of cysts inside the kidney, kidney fibrosis and tubular atrophy which leads to progressive kidney failure....more »
    2256. 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 »
    2257. Juvenile-onset dystonia
     A rare form of progressive dystonia that starts early in life - first or second decade. Dystonia is prolonged involuntary muscle spasms or contractions. Various other physical abnormalities are also present and severe hearing loss usually occurs by the mi...more »
    2258. KBG Syndrome
     A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones....more »
    2259. Kabuki syndrome
     A rare genetic disorder characterized by distinctive facial features....more »
    2260. 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 »
    2261. Kalam-Hafeez syndrome
     A rare disorder characterized by low parathyroid levels in infants, retarded growth, mental retardation, dysmorphic features and seizures....more »
    2262. 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 »
    2263. 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 »
    2264. 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 »
    2265. Kallmann syndrome 2
     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 2 is caused by a genetic defect located at ...more »
    2266. 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 »
    2267. Kallmann syndrome, type 3, recessive
     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 3 is recessively inherited and the genetic ...more »
    2268. Kallmann syndrome, type 4
     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 4 is caused by a genetic defect located at ...more »
    2269. 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 »
    2270. Kantaputra-Gorlin syndrome
     A rare congenital disorder characterized by fusion of bones in the wrists and ankles as well as other bone development abnormalities in the limbs....more »
    2271. 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 »
    2272. Kaplan-Plauchu-Fitch syndrome
     A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities....more »
    2273. Kaplowitz-Bodurtha syndrome
     A very rare syndrome characterized mainly by reduced pituitary hormone production and small eyes....more »
    2274. Kashani-Strom-Utley syndrome
     A very rare syndrome characterized mainly by a narrowed pulmonary aorta and urinary obstructive disease....more »
    2275. Kaufman oculocerebrofacial syndrome
     A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited....more »
    2276. 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 »
    2277. Kawasaki disease
     A childhood illness that generally affects the skin, mouth and lymph nodes....more »
    2278. Kearns-Sayre Syndrome
     A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles....more »
    2279. Kennerknecht syndrome
     A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities. The observed cases involved a family whose parents were related....more »
    2280. Kennerknecht-Vogel syndrome
     A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities....more »
    2281. Kenny-Caffey Syndrome
     A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities....more »
    2282. 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 »
    2283. Kenny-Caffey syndrome, Type 2
     A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities....more »
    2284. Keratoderma palmoplantar, Norrbotten recessive type
     An inherited disorder characterized mainly by thickened skin on the palms and soles. The severity of the thickening can vary but it is generally considered a relatively severe form of palmoplantar keratoderma...more »
    2285. Keratoderma palmoplantaris transgrediens et progrediens
     A rare syndrome characterized mainly by coarse hair and superficial horny growths on the palms and soles. Short fingers and thin nails have also been observed....more »
    2286. Keratoderma, Palmoplantar, Diffuse
     A group of skin disorders characterized by thickened skin on the palms and soles....more »
    2287. Keratomalacia
     A rare eye disease that results from a deficiency of vitamin A....more »
    2288. Keratosis
     Thickening of the skin...more »
    2289. Keratosis focal -- palmoplantar, gingival
     A rare syndrome characterized mainly by thickened skin on the soles and palms in areas that are under the most trauma e.g. weight-bearing part of sole. The gums also have thickened growths....more »
    2290. Keratosis follicularis -- dwarfism -- cerebral atrophy
     A very rare syndrome characterized mainly by dwarfism, brain degeneration and a hair follicle disorder....more »
    2291. Keratosis palmaris et plantaris -- clinodactyly
     A rare disorder characterized by the association of thickened skin on the palms and soles as well curvature of the fifth finger....more »
    2292. Keratosis palmoplantar periodontopathy
     A very rare inherited condition characterized by dry scaly patches on the skin of the palms and soles, gum and teeth problems and frequent skin infections....more »
    2293. Keratosis palmoplantaris -- adenocarcinoma of the colon
     A rare disorder characterized by cancer of the secretory lining of the colon as well as thickening of the skin on the palms and soles. The colon cancer tends to grow slowly....more »
    2294. Keratosis palmoplantaris -- corneal dystrophy
     A rare condition where a deficiency of a liver enzyme (tyrosinase aminotransferase) causes tyrosine levels in the blood to increase and result in eye problems, mental retardation and horny skin lesions which develop on pressure points on the hands and fee...more »
    2295. Keratosis palmoplantaris -- periodontopathia -- onychogryposis
     A rare syndrome characterized by gum disease, nail and skin problems and various other anomalies....more »
    2296. Keratosis palmoplantaris papulosa
     A rare condition involving thickening of the skin on the palms and soles...more »
    2297. Kienbock disease
     A condition where interruption of the blood flow to the lunate bone (often due to wrist inflammation or injury) in the wrist damages it and impairs wrist movement....more »
    2298. King-Denborough syndrome
     A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems....more »
    2299. Klaricid -- Teratogenic Agent
     There is evidence to indicate that exposure to Klaricid (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 lev...more »
    2300. Kleeblattschaedel syndrome
     A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped....more »
    2301. Kleiner-Holmes syndrome
     A very rare syndrome characterized mainly by big toe abnormalities including partial or complete duplication of the big toe....more »
    2302. Klinefelter syndrome
     A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of probl...more »
    2303. Klinefelter syndrome variant
    2304. Klinefelter syndrome, variants
     A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of probl...more »
    2305. Klippel Feil deformity conductive deafness absent vagina
     A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature....more »
    2306. Klonopin -- Teratogenic Agent
     There is evidence to indicate that exposure to Klonopin 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 »
    2307. Kniest dysplasia
     A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities....more »
    2308. Knuckle pads, leukonychia and sensorineural deafness
     A very rare syndrome characterized mainly by deafness, knuckle pads and white nails....more »
    2309. Kohl-induced lead poisoning
     Kohl is a folk remedy used mainly by various ethnic groups (e.g. Africans, Asians, Indians and Pakistanis) to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to...more »
    2310. Kosztolanyi syndrome
     A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities....more »
    2311. Koussef nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    2312. Kousseff-Nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    2313. Kowarski syndrome
     A condition resulting from the presence of ineffective growth hormone....more »
    2314. Kozlowski-Celermajer syndrome
     A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities....more »
    2315. Krabbe leukodystrophy
     A rare inherited biochemical disorder involving the deficiency of an enzyme called galactocerebrosidase. It is a leukodystrophy which refers to a group of genetic disorders that affect the growth of the protective coating around the brain nerves....more »
    2316. Krabbé Disease
     Brain myelin disorder with various symptoms....more »
    2317. Krause-Kivlin syndrome
     A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly....more »
    2318. Kurczynski-Casperson syndrome
     A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes....more »
    2319. Kushta-induced lead poisoning
     Kushta is a folk remedy used mainly by Indian and Pakistani people as an aphrodisiac and to treat diseases involving organs such as the liver, brain, heart and stomach. This folk remedy has the potential to cause lead poisoning due to its relatively high ...more »
    2320. Kuster-Majewski-Hammerstein syndrome
     A very rare disorder characterized mainly by alopecia, retarded growth and eye problems. The loss of scalp hair is repetitive and the eye problem involves ring-shaped degeneration of the retinal pigmentary layer....more »
    2321. Kwashiorkor
     A malnutrition state that is produced by severe protein deficiency...more »
    2322. L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency
     A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activit...more »
    2323. L-hyoscyamine -- Teratogenic Agent
     There is evidence to indicate that exposure to L-hyoscyamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    2324. LADD Syndrome
     A very rare genetic disorder characterized by ear, teeth and tear duct abnormalities....more »
    2325. LADHSC deficiency
     A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activit...more »
    2326. LEOPARD Syndrome
     A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness....more »
    2327. Labetolol -- Teratogenic Agent
     There is evidence to indicate that exposure to Labetolol 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 »
    2328. Lacrimoauriculodentodigital syndrome
     A rare genetic disorder characterized by ear, teeth and tear duct abnormalities....more »
    2329. Lactic Acidosis, Fatal Infantile
     The excessive accumulation of lactic acid in the blood which leads to metabolic acidosis....more »
    2330. Lamellar ichthyosis
     A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes....