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Symptom Checker » Bowed legs » Skeletal symptoms
 

Bowed legs and Skeletal symptoms
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Results: Causes of Bowed legs AND Skeletal symptoms

Results: 3923 causes of Bowed legs OR Skeletal symptoms

    1. 14q+ syndrome
     A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities....more »
    2. 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 »
    3. 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 »
    4. 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 »
    5. 1q terminal deletion
     A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities....more »
    6. 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 »
    7. 22q11.2 deletion syndrome
     A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans....more »
    8. 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 »
    9. 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 »
    10. 2q22-q24 deletion
     A rare chromosomal disorder where part of the long arm (q22-q24) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    11. 3-Hydroxyisobutyric aciduria
     A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems....more »
    12. 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 »
    13. 3C syndrome
     A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name....more »
    14. 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 »
    15. 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 »
    16. 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 »
    17. 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 »
    18. 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 »
    19. 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 »
    20. 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 »
    21. 49,XXXXY syndrome
     A rare sex chromosome abnormality where there are three extra copies of the X chromosome....more »
    22. 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 »
    23. 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 »
    24. ACPS III
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    25. AIDS dysmorphic syndrome
     A rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage....more »
    26. ALL-Down syndrome
     The presence of acute lymphoblastic leukemia in Down syndrome patients. These patients tend to have a poorer prognosis for the leukemia than patients without Down syndrome....more »
    27. AREDYLD
     A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes....more »
    28. ATR-X syndrome
     A rare X-linked disorder that affects males and is characterized by mental retardation and alpha thalassemia....more »
    29. ATRUS syndrome
     A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder....more »
    30. Aarskog Syndrome
     A rare genetic condition characterized by facial, hand, genital and growth abnormalities....more »
    31. 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 »
    32. Abdominal Cancer
     Growth of abnormal cells (tumour) affecting the organs in the abdominal cavity; may be due to primary growth of a tumour or spread from another tumour (metastases, secondary tumour)...more »
    33. Abidi X-linked mental retardation syndrome
     A rare genetic disorder characterized by a number of physical abnormalities...more »
    34. Abruzzo Erickson syndrome
     A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness....more »
    35. Absent abdominal musculature with microphthalmia and joint laxity
     A rare disorder characterized mainly by small eyes, loose joints, a lack of abdominal muscles and facial anomalies....more »
    36. 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 »
    37. Acalvaria
     A rare congenital condition where the skull cap is missing but the rest of the face and base of the skull is normal. The skin of the scalp simply covers the brain with no protective skull bone under it....more »
    38. Acanthocheilonemiasis
     Infection with a nematode called Mansonella....more »
    39. 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 »
    40. 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 »
    41. 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 »
    42. 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 »
    43. 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 »
    44. Achard syndrome
     An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints....more »
    45. Achondrogenesis type 1A
     A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an a...more »
    46. 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 »
    47. Achondrogenesis type 1B
     A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine....more »
    48. Achondrogenesis type 2
     A rare genetic disorder characterized by very small stature, abnormal bone formation and early death....more »
    49. 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 »
    50. Achondrogenesis, type 4
     A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis....more »
    51. Achondroplasia
     A disorder characterized by problems with bone growth....more »
    52. Achondroplasia regional -- dysplasia abdominal muscle
     A rare syndrome characterized mainly by abnormal bone development of the ilium, ribs and abdominal muscles. The abdominal muscles tend to become more develope with increasing age....more »
    53. Acid phosphatase deficiency
     A group of inherited metabolic bone disorders varying in degree of severity and characterized a deficiency of alkaline phosphate which affects bone mineralization....more »
    54. Acid-Base Imbalance
     A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined ...more »
    55. Acinic cell carcinoma
     A usually slow-growing malignant tumor that that can occur in various parts of the body but is most often found in the pancreas, salivary glands, palate and upper lip. Symptoms are determined by the size and location of the growth....more »
    56. Acitretin- Teratogenic Agent
     Reports indicate that the use of Acitretin during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. Acitreti...more »
    57. Ackerman Dermatitis Syndrome
     A rare condition characterized by the association of skin and joint symptoms. It is characterized by arthritis preceded by a skin rash (interstitial granulomatous dermatitis) which can vary in appearance from person to person. The condition tends to go th...more »
    58. Ackerman syndrome
     An extremely rare condition characterized primarily by glaucoma, upper lip deformity and abnormal tooth roots....more »
    59. Acro coxo mesomelic dysplasia
     A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs....more »
    60. 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 »
    61. Acro-reno-ocular syndrome
     A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones....more »
    62. 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 »
    63. Acrocapitofemoral dysplasia
     A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips....more »
    64. Acrocephalopolydactyly
     A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present....more »
    65. 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 »
    66. Acrocephalopolydactyly II
     A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation....more »
    67. Acrocephalopolysyndactyly type III
     A rare genetic condition characterized by head and digital anomalies as well as other abnormalities....more »
    68. 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 »
    69. 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 »
    70. 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 »
    71. 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 »
    72. 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 »
    73. Acrodysostosis
     A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities....more »
    74. Acrodysplasia scoliosis
     A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies....more »
    75. 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 »
    76. Acrofacial dysostosis Catania form
     One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare....more »
    77. 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 »
    78. 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 »
    79. Acrofacial dysostosis atypical postaxial
     A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features....more »
    80. Acrofacial dysostosis autosomal recessive
     A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome....more »
    81. 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 »
    82. Acrofacial dysostosis, Nager type
     A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects....more »
    83. 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 »
    84. 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 »
    85. Acrogeria (Gottron Type)
     An extremely rare, mild form of progeria....more »
    86. Acromegaloid hypertrichosis syndrome
     A rare genetic condition characterized by excess body hair and a coarse face. The severity of the condition is variable....more »
    87. Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome
     A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma....more »
    88. Acromegaly due to growth hormone-secreting pituitary adenoma
     Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors....more »
    89. Acromesomelic dysplasia
     A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis....more »
    90. Acromesomelic dysplasia Brahimi Bacha type
     A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones....more »
    91. Acromesomelic dysplasia Campailla Martinelli type
     A form of dwarfism where the main shortening occurs in the lower legs and arms....more »
    92. Acromesomelic dysplasia Hunter Thompson type
     A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones....more »
    93. Acromesomelic dysplasia, Maroteaux type
     A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies....more »
    94. Acroosteolysis dominant type
     A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes....more »
    95. 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 »
    96. Acropectorovertebral dysplasia
     A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones....more »
    97. Acrorenal mandibular syndrome
     A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw....more »
    98. Acrosphenosyndactylia
     A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused t...more »
    99. Acutane embryopathy
     A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects....more »
    100. Acute Bokhoror
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    101. Acute Sinusitis
     A condition which is characterized by an acute inflammatory reaction affecting the sinuses...more »
    102. Acute VE
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    103. Acute Viliuisk Encephalitis
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    104. Acute Viliuisk Encephalomyelitis
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    105. Acute Vilyuisk Encephalitis
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    106. Acute Vilyuisk Encephalomyelitis
     A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease ...more »
    107. Acute bacterial prostatitis
     Bacterial prostatitis is a bacterial inflammation of the prostate gland, in men....more »
    108. Acute cholinergic dysautonomia
     A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms...more »
    109. Acute erythroleukemia
     A rare condition characterized by the presence of abnormal blood cells (erythroblastic precursors) in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form ...more »
    110. Acute gout
     An acute condition which is caused by a disorder of purine or pyrimidine metabolism resulting in inflammatory arthritis...more »
    111. Acute hemorrhagic leukoencephalitis
     A rare brain disease involving destruction of blood vessel walls, hemorrhages and swelling in the brain. The disease may be associated with a virus or vaccination. The disease can progress rapidly and death is common but treatment can result in complete r...more »
    112. Acute leukaemia of ambiguous lineage
     A term used to describe a type of leukemia (a blood cancer) where the leukemic cells cannot be determined as myeloid or lymphoid or where both types of cells are present....more »
    113. Acute leukemia
     An acute condition which affects a cell line of the blood which shows little or no differentiation...more »
    114. Acute lymphoblastic leukemia
     Cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and ...more »
    115. Acute lymphoblastic leukemia, Susceptibility to
     Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the...more »
    116. Acute lymphoblastic leukemia, Susceptibility to, 1
     Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the...more »
    117. Acute lymphoblastic leukemia, Susceptibility to, 2
     Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the...more »
    118. Acute lymphoblastic leukemia, adult
     Cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and ...more »
    119. Acute lymphocytic leukemia
     Most common child form of leukemia; can also affect adults especially over 65....more »
    120. Acute megacaryoblastic leukemia
     A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. More specifically, it involves the rapid proliferation of megakaryoblasts (premature form of megakaryocytes)....more »
    121. 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 »
    122. Acute myeloblastic leukemia type 1
     A form of blood cancer resulting in the rapid proliferation of immature blood cells (blast cells)....more »
    123. Acute myeloblastic leukemia type 2
     A form of blood cancer resulting in the rapid proliferation of granulocytes and monocytes....more »
    124. Acute myeloblastic leukemia type 3
     A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 3 involves the proliferation of promyelocytes....more »
    125. Acute myeloblastic leukemia type 4
     A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 4 involves the rapid proliferation of myelocytes and monocytes....more »
    126. Acute myeloblastic leukemia type 5
     A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. Type 5 involves the rapid proliferation of monoblasts (immature precursors of monocytes) in particular....more »
    127. Acute myeloblastic leukemia type 6
     A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 6 involves the proliferation of the immature precursors of red blood cells called erythroblasts....more »
    128. Acute myeloblastic leukemia type 7
     A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. Type 7 involves the rapid proliferation of megakaryoblasts (premature form of megakaryocytes) in particular....more »
    129. Acute myelocytic leukemia
     A cancer of the blood-forming tissues of the bone marrow involving the proliferation of cells that normally develop into infection-fighting cells such as eosinophils, monocytes, basophils and neutrophils. The cancerous cells replace the normal bone marrow...more »
    130. Acute myeloid leukaemia and myelodysplastic syndromes related to alkylating agent
     The use of alkylating agents to treat cancer can result in leukemia in some patients....more »
    131. Acute myeloid leukaemia and myelodysplastic syndromes related to topoisomerase type II inhibitor
     The use of topoisomerase type II inhibitors to treat cancer can result in leukemia in some patients....more »
    132. Acute myeloid leukaemia and myelodysplastic syndromes, therapy related
     Certain cancer therapies can result in the development of leukemia in some patients. These therapies includes topoisomerase type II inhibitors and alkylating agents....more »
    133. Acute myeloid leukemia
     A form of rapidly progressing blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets....more »
    134. Acute myeloid leukemia, adult
     A form of blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets....more »
    135. Acute myelosclerosis
     A rare disorder where the bone marrow makes too many blood cells. The disease progresses rapidly with death usually occurring within 6 months of onset....more »
    136. Acute non lymphoblastic leukemia
     A form of rapidly progressing blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets. It is one of the most common forms of leukemia in adults but can occur in children....more »
    137. Acute prostatitis
     An acute condition which affects the prostate which is the result of infammation...more »
    138. Acyclovir -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Acyclovir 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 »
    139. Adamantinoma
     Adamantinoma is a rare tumor. The tumor occurs almost exclusively in the long bones; tumors in the tibia account for more than 80% of cases. The diaphyseal region is the area most commonly affected....more »
    140. 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 »
    141. 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 »
    142. 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 »
    143. Adducted thumbs Dundar type
     A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies....more »
    144. Adenocarcinoma, Clear Cell
     A type of cancer that occurs mainly in the genitourinary tract and the cells that make up the tumor are clear. It is very rare and most cases occur in females whose mothers used a drug called DES (synthetic estrogen) while pregnant....more »
    145. Adenomyosis
     A rare disorder where the endometrium (lining of the uterus) grows inside the muscle walls of the uterus. The condition is generally harmless but can be very painful....more »
    146. Adenosarcoma of the uterus
     A tumor that develops from the glands that line the uterus....more »
    147. Adolescent idiopathic scoliosis
     A condition which occurs to an adolescent without any known cause resulting in scoliosis of the spine...more »
    148. 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 »
    149. Adrenal Cortex Diseases
     Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue....more »
    150. 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 »
    151. 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 »
    152. Adrenal crisis
     A condition which is characterized by insufficient amounts of the adrenocortical hormones that results in vomiting, nausea, hypotension and electrolyte abnormalities...more »
    153. 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 »
    154. Adrenal gland hypofunction
     Reduced adrenal gland activity due to damage to the adrenal gland or lack of stimulation of the gland. Pituitary hormones stimulate adrenal gland activity....more »
    155. 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 »
    156. Adrenal hypofunction
     A condition which is characterized by a lack of production of hormones from the adrenal gland....more »
    157. 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 »
    158. 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 »
    159. Adrenocortical carcinoma
     A condition which is characterized by malignancy which affects the adrenocortex....more »
    160. 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 »
    161. Adult Cystic Fibrosis
     Cystic fibrosis is an inherited condition characterized by the production of thick sticky mucus by the mucus glands in the lungs, intestines, liver and pancreas. The condition is most often diagnosed in children or young adults but occasionally, relativel...more »
    162. Adult Fibrosarcoma
     A malignant tumor that develops from fibroblasts (cells that produce connective tissue) and tends to occur in soft tissue or in areas surrounding bones. Adult fibrosarcoma tends to affect mainly deep soft tissue, trunk, head, neck and upper arms and legs....more »
    163. Adult hypophosphatasia
     An rare inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition involves the early loss of primary teeth and childhood rickets followed by a reasonable health until mid-adulthood when...more »
    164. Adult onset Still's disease
     A form of Still's disease that has a later onset and involves arthralgia or arthritis and a characteristic rash that often appears during periods of temperature increase....more »
    165. African Sleeping sickness
     Fly-borne African parasitic disease....more »
    166. Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis
     A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis....more »
    167. Agammaglobulinemia, microcephaly, and severe dermatitis
     A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis....more »
    168. 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 »
    169. Aggressive systemic mastocytosis
     The excessive proliferation of mast cells. Mast cells control the skin's response to minor injury and release a chemical called histamine which causes the skin to redden. In the aggressive form, mast cells accumulate in the liver, spleen and lymphatic sys...more »
    170. 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 »
    171. 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 »
    172. Agnathia-holoprosencephaly-situs inversus
     A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable....more »
    173. 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 »
    174. Akaba-Hayasaka syndrome
     A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs....more »
    175. 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 »
    176. Al Awadi syndrome
     A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis....more »
    177. 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 »
    178. Al Gazali Aziz Salem syndrome
     A rare syndrome characterized mainly by heart disease, short stature and a webbed neck....more »
    179. Al Gazali Hirschsprung syndrome
     A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies....more »
    180. Al Gazali Sabrinathan Nair syndrome
     A very rare syndrome characterized by bone and eye problems, seizures and mental retardation....more »
    181. Al Gazali-Khidr-Prem Chandran
     A very rare syndrome characterized mainly by short stature, eye problems and an unusual cherubic facial appearance....more »
    182. Al Gazali-Khidr-Prem Chandran syndrome
    183. 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 »
    184. Albers-Schonberg disease -- Adult benign dominant form
     A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic....more »
    185. Albers-Schonberg disease -- intermediate 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 intermediate form is more severe than the adult form but less severe than the infantile fo...more »
    186. 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 »
    187. Albright like syndrome
     A rare disorder characterized by mental retardation, short stature and finger and toe abnormalities....more »
    188. 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 »
    189. 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 »
    190. 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 »
    191. Alcohol antenatal infection
    192. Alkaptonuria
     A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration....more »
    193. Allain Babin Demarquez syndrome
     A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension....more »
    194. Allan-Herndon-Dudley Syndrome
     A very rare inherited disorder characterized primarilty by mental retardation....more »
    195. Allen-Masters syndrome
     Damage to muscle layers in the pelvis which allows the abnormally increased movement of the cervix. It often occurs after a traumatic surgical birth, induced abortion or excessive vaginal packing....more »
    196. Allison atrophy
     Wasting and loss of minerals in bones that are not used for periods of time. Astronauts have to ensure they do adequate exercise to prevent this condition....more »
    197. Alopecia mental retardation syndrome
     A rare syndrome characterized primarily by a lack of hair and mental retardation....more »
    198. Alopecia-contractures-dwarfism-mental retardation
     A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures....more »
    199. Alpha 1-Antitrypsin Deficiency
     A rare disorder characterized by the development of lung disease in adults and liver disease in adults and children....more »
    200. 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 »
    201. 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 »
    202. Alpha-Mannosidosis
     A rare condition which is characterized by a lysosomal storage defect....more »
    203. 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 »
    204. Alpha-mannosidosis type II
     A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infa...more »
    205. Alpha-mannosidosis, adult-onset form
    206. Aluminium toxicity
     High body levels of aluminium resulting in symptoms. Usually occurs in patients with renal impairment....more »
    207. Alves Castelo dos Santos syndrome
     A rare syndrome characterized by hair, eye, skin and spinal abnormalities....more »
    208. 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 »
    209. Ameloblastoma
     A very rare disorder involving the jaw and sinuses. Cyts or tumors which may be malignant form in the jaw, sinus, nose or eye socket areas....more »
    210. American mountain fever
     A viral disease transmitted through the bite of ticks (Rocky Mountain wood tick and American dog tick) who are infected with the virus. Because the virus infects blood cells including erythrocytes, transmission can also occur through transfusion with infe...more »
    211. 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 »
    212. Amish brittle hair syndrome
     A rare inherited condition characterized by brittle hair, mental and physical impairment, decreased fertility and short stature....more »
    213. 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 »
    214. Amnion rupture sequence
     A rare disorder where the amniotic sac is ruptured resulting in various abnormalities....more »
    215. 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 »
    216. 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 »
    217. Amoxicillin -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Amoxicillin 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 »
    218. 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 »
    219. Ampola syndrome
     A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities....more »
    220. Amyloidosis AL
     A disease involving the abnormal deposit of amyloid fibrils in virtually any part of the body - the heart, liver, kidney and peripheral and autonomic nerves are most commonly affected. The abnormal amyloid fibrils are produced abnormal plasma cells in the...more »
    221. Amyloidosis beta2-microglobulinic
     Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. The type of amyloid protein involved in this type of amyloidosis is beta-2-microglobulin. The abnormal prot...more »
    222. Amyoplasia
     A rare condition characterized by congenital joint stiffness....more »
    223. Amyoplasia congenital disruptive sequence
     A rare genetic disorder characterized by congenital contractures of two or more different joints....more »
    224. Amyotrophic lateral sclerosis
     A motor neuron disease involving progressive degeneration and eventual destruction of the function of nerves that control voluntary movement....more »
    225. Anauxetic dysplasia
     A rare disorder characterized by abnormal skeletal and spinal development....more »
    226. 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 »
    227. Androgen Insensitivity Syndrome
     Females with male XY genetics but inability to respond to testosterone....more »
    228. Andropause
     A symptomatic decline in male androgens that may occur as men age....more »
    229. 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 »
    230. Anencephaly
     A birth defect where most or all of the brain is missing - most die before birth. Usually the associated portions of skull and other tissue are also missing....more »
    231. Aneurysmal bone cysts
     A benign tumor-like lump in the bone. Most frequently occurs in the spine and longer bones of the body....more »
    232. 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 »
    233. Angelman syndrome
     A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features....more »
    234. 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 »
    235. Angio-osteohypotrophic syndrome
     A rare disorder characterized by malformation of the peripheral (usually veins) blood vessels and skeletal abnormalities. The malformed blood vessels cause localized soft tissue swellings and if veins in bones are affected, the bone may degenerate due to ...more »
    236. Angioimmunoblastic T-cell lymphoma
     A form of cancer which tends to be systemic in nature and thus cancer cells can be found in various parts of the body such as the lymph nodes, liver, spleen, skin and bone marrow....more »
    237. Angiokeratoma -- mental retardation -- coarse face
     A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas....more »
    238. Angioneurotic Edema
     Recurring periods of noninflammatory swelling involving the skin, intestinal organs, brain and mucous membranes. In severe cases, respiratory swelling can result in compromised breathing....more »
    239. Angiosarcoma
     Angiosarcomas are a relatively rare type of malignant tumors that develop from blood vessel tissues. The cancer tends to occur mainly in the liver, skin, breasts and deep soft tissues. The cancer is prone to metastasis to the lymphatic system and is consi...more »
    240. Aniridia -- absent patella
     A rare genetic condition characterized by an abnormal or missing kneecap as well as the absence of the iris of the eye....more »
    241. Aniridia -- renal agenesis -- psychomotor retardation
     A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation....more »
    242. Anisakiasis
     Intestinal infection by a parasitic worm (Anisakidae). Infection usually occurs by eating seafood infected with the larvae....more »
    243. Ankle Arthritis
     Inflammation of the ankle joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    244. Ankle Osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the ankle joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all...more »
    245. Ankle defects short stature
     A rare disorder characterized mainly by ankle defects and short stature...more »
    246. Ankle sprain
     Damage to the ankle ligaments....more »
    247. Ankylosing spondylarthritis
     Inflammation of one or more spine joints. The spine becomes progressively painful and stiff and the spine joints may eventually fuse and cause disability. The condition may vary from mild to severe. Inflammation can affect other joints and tissues....more »
    248. Ankylosis
     Fusion of bones in a joint...more »
    249. Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome
     A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs....more »
    250. Anophthalmia -- cleft palate -- micrognathia
     A rare syndrome characterized mainly by absent eyes, cleft palate and a small jaw....more »
    251. Anophthalmia -- hand and foot defects -- mental retardation
     A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes....more »
    252. Anophthalmia -- hypothalamo-pituitary insufficiency
     A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland....more »
    253. Anophthalmia -- hypyothalamo-pituitary insufficiency
     A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland....more »
    254. Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies
     A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities....more »
    255. Anophthalmia -- short stature -- obesity
     A very rare syndrome characterized by absent eyes, short stature and obesity....more »
    256. Anophthalmia plus syndrome
     An extremely rare disorder characterized by absent or very small eyes, underdeveloped ears and other facial anomalies....more »
    257. Anorexia Nervosa
     A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases....more »
    258. Anotia -- facial palsy -- cardiac defect
     A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects....more »
    259. Ansell-Bywaters-Elderking syndrome
     A rare familial syndrome characterized mainly by mental retardation, rash, eye inflammation and joint disease....more »
    260. Antihypertensive drug allergy
     Taking antihypertensive drugs (blood pressure-lowering drugs) can cause an allergic response in some people however this is considered rare. It involves the body's immune system overreacting to the drug. The type and severity of symptoms can vary consider...more »
    261. Antithyroid arthritis syndrome
     Arthritis caused by using antithyroid drugs to treat hyperthyroidism....more »
    262. Antley-Bixler Syndrome
     A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities....more »
    263. 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 »
    264. Aortic arch anomaly with peculiar facies and mental retardation
     A very rare syndrome characterized by mental retardation, characteristic facial anomalies and abnormal position of the aorta....more »
    265. Aortic dilatation- joint hypermobility- arterial tortuosity
     A rare syndrome characterized by the dilation of the aortic root, hyperextensible joints and varicose veins...more »
    266. 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 »
    267. Apert syndrome
     A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused t...more »
    268. 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 »
    269. Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis
     A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs....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. Appendiceal tumor
     A tumor of the appendix. The condition is often misdiagnosed as acute appendicitis. The cancer usually metastasizes from other sites and rarely starts in the appendix....more »
    272. Appendix cancer
     Cancer of the appendix. The cancer usually metastasizes from other sites and rarely starts in the appendix....more »
    273. Apricot seed poisoning
     Apricot seeds contain a chemical called amygdalin which breaks down into cyanide in the human body. The toxic chemicals are not released if the pit remains intact and therefore poisoning usually occurs if the seeds are crushed and eaten. Accidental ingest...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. 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 »
    278. Arbovirosis
     An infectious disease caused by an arbovirus. The virus is transmitted by arthropods such as insects and ticks. Examples of arboviruses include Yellow Fever, Japanese encephalitis and tick-borne encephalitis. The symptoms may vary depending on the type of...more »
    279. Arena syndrome
     A rare disorder characterized by mental retardation, spastic paraplegia and iron deposits in part of the brain that controls movement (basal ganglia)....more »
    280. Arima syndrome
     A rare disorder characterized mainly by eye and brain abnormalities....more »
    281. Arm fracture
     Fracture of bones in the arm....more »
    282. Armendares syndrome
     A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities....more »
    283. Aromatase deficiency
     A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens....more »
    284. 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 »
    285. 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 »
    286. Arthralgia
     Pain in the joints, often a symptom of arthritis....more »
    287. Arthralgia -- purpura -- weakness syndrome
     A rare autoimmune disorder characterized mainly by weakness, joint pain, reddish or purplish skin discolorations and a blood abnormality where cryoglobulins in the blood precipitate at low temperatures....more »
    288. Arthralgia similar to that in rheumatoid arthritis
     Pain in the joints similar to that of rheumatoid arthritis....more »
    289. Arthritis -- short stature -- deafness
     A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities....more »
    290. Arthritis pain
     Arthritis is inflammation of one or more joints, which results in pain, swelling, stiffness, and limited movement....more »
    291. Arthritis, Gouty
     Joint pain and inflammation (arthritis) caused by gout (buildup of urate crystals). The big toe is most commonly affected but other joints may also be affected e.g. foot, ankle, elbow, wrist, knee and fingers. Usually only one joint is affected at a time....more »
    292. Arthritis-like conditions
     Medical conditions highly related to or similar to arthritis....more »
    293. 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 »
    294. Arthrogryposis -- hyperkeratosis, lethal form
    295. Arthrogryposis -- ophthalmoplegia -- retinopathy
     A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems....more »
    296. Arthrogryposis -- renal dysfunction -- cholestasis syndrome
     A very rare syndrome characterized by joint contractures, kidney dysfunction and liver problems....more »
    297. Arthrogryposis -- severe scoliosis
     A rare disorder characterized by severe scoliosis and permanent flexion of muscles in the ends of the limbs. Other variable features may alsobe present....more »
    298. Arthrogryposis -- spinal muscular atrophy
     A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth....more »
    299. Arthrogryposis IUGR thoracic dystrophy
     A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities....more »
    300. Arthrogryposis distal type II
     A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects....more »
    301. Arthrogryposis due to muscular dystrophy
     A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth....more »
    302. 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 »
    303. 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 »
    304. Arthrogryposis multiplex congenita type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    305. 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 »
    306. Arthrogryposis multiplex with deafness, inguinal hernias, and early death
     A rare syndrome characterized multiple joint contractures throughout the body, deafness, inguinal hernias and death usually within months of birth....more »
    307. Arthrogryposis, congenital -- myopathic seizures
     A rare syndrome characterized by mental retardation and muscle problems....more »
    308. 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 »
    309. Arthrogryposis, distal, type 2B
     A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities....more »
    310. Arthrogryposis, distal, type 2E
     A rare syndrome characterized by contractures of the fingers and jaw....more »
    311. 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 »
    312. Arthrogryposis-like hand anomaly -- sensorineural deafness
     A rare disorder characterized by hand contractures and deafness....more »
    313. Arthropathy, Neurogenic
     Joint destruction caused by damage to the nervous system which prevents the patient feeling sensations in the joint. Due to the nerve damage, pain and damage to the joint often goes unnoticed as the joint deteriorates even further. The knee and ankle are ...more »
    314. Arthropathy, progressive pseudorheumatoid, of childhood
     A form of progressive rheumatoid arthritis that affects children....more »
    315. Aseptic osteitis (generic term)
     A non-infectious inflammation of the bone. Any bone may be affected...more »
    316. Ashley syndrome
     A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities....more »
    317. Asian Dendorlimus pini caterpillar poisoning
     A chronic illness caused by contact with certain a poisonous caterpillar called Dendorlimus pini. Contact with the cocoon can also cause symptoms. These caterpillars can be found in Asia, north Africa and eastern Europe....more »
    318. 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 »
    319. 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 »
    320. 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 »
    321. 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 »
    322. Astley-Kendall syndrome
     A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy....more »
    323. Asymmetric short stature syndrome
     A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies....more »
    324. Ataxia -- diabetes -- goiter -- gonadal insufficiency
     A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia....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. Athabaskan severe combined immunodeficiency
     A severe immunodeficiency disorder found in Navajo and Apache populations....more »
    328. Atkin-Flatiz syndrome
     A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies....more »
    329. 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 »
    330. Atrichia -- mental and growth delay
     A rare syndrome characterized mainly by mental retardation, growth delay and the absence of hair....more »
    331. 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 »
    332. Aughton syndrome
     A very rare syndrome characterized primarily by small eyes, cleft palate, mental retardation and dextrocardia (heart located on right side of chest instead of left)....more »
    333. Aural atresia -- multiple congenital anomalies -- mental retardation
     A rare syndrome characterized by a number of malformations as well as mental retardation....more »
    334. 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 »
    335. Auriculo-condylar syndrome
     A rare syndrome characterized by variable ear and jaw abnormalities....more »
    336. Autoimmune Endometriosis
     An endometriosis that is caused by an autoimmune reaction...more »
    337. Autoimmune Hemophilia
     Hemophilia caused by an autoimmune reaction...more »
    338. Autoimmune Hepatitis
     Liver inflammation caused due to autoimmune processes where the body's immune system attacks the liver....more »
    339. Autoimmune Lymphoproliferative Syndrome
     An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells....more »
    340. Autoimmune Vasculitis
     A inflammation of the blood vessels caused by an autoimmune reaction...more »
    341. Autoimmune diseases
     A group of disorders in which the primary cause is the an inflammatory reaction caused by the body's own immune system attacking tissues...more »
    342. Autoimmune oophoritis
     An autoimmune condition where the body's own immune system attacks the ovaries and causes them to become inflamed. It can lead to ovarian function stopping prematurely....more »
    343. 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 »
    344. Autosomal Recessive Polycystic Kidney Disease
     Severe form of PKD, a genetic kidney disease....more »
    345. Avascular necrosis
     Bone death from lack of circulation....more »
    346. Avascular necrosis of femoral head, familial form
     A familial hip joint disorder where bone growth abnormalities caused by an interrupted blood supply to the head of the femoral bone results in it's degeneration and deformity. When the body creates a new blood supply, new healthy bone can be formed....more »
    347. Avitaminosis
     A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (a...more »
    348. Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities
     A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies....more »
    349. 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 »
    350. 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 »
    351. Axial osteosclerosis
     A rare bone abnormality involving patches of increased bone density which tend to occur in the spine, pelvis and the ball part of the hip joint....more »
    352. 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 »
    353. 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 »
    354. BIDS syndrome
     A rare inherited condition characterized by brittle hair (B), mental and physical impairment (I), decreased fertility (D) and short stature (S)....more »
    355. 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 »
    356. Baber's syndrome
     A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome....more »
    357. Back tumour
     The presence of tumour growth in the vertebra, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast....more »
    358. Bagatelle-Cassidy syndrome
     An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay....more »
    359. Baker-Vinters syndrome
     A very rare syndrome characterized by premature fusion of skull bones, hydrocephalus and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles....more »
    360. Ballard syndrome
     A rare condition characterized by enlarged liver and spleen and fractures that occur in areas of weakened bone....more »
    361. 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 »
    362. Bangstad syndrome
     A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia....more »
    363. Bannayan-Zonana syndrome
     A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths....more »
    364. Baraitser burn fixen syndrome
     A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face....more »
    365. Baraitser-Rodeck-Garner syndrome
     A very rare syndrome characterized primarily by mental retardation, premature fusion of skull bones, kidney anomalies, seizures and facial anomalies....more »
    366. Baraitser-Winter syndrome
     A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation....more »
    367. Bardet-Biedl Syndrome
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities....more »
    368. 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 »
    369. 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 »
    370. 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 »
    371. 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 »
    372. 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 »
    373. 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 »
    374. 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 »
    375. 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 »
    376. 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 »
    377. 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 »
    378. 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 »
    379. 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 »
    380. Barmah Forest virus
     Mosquito-borne virus in parts of Australia...more »
    381. Barnicoat-Baraitser syndrome
     A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size....more »
    382. Barrow-Fitzsimmons Syndrome
     A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease....more »
    383. Bartenwerfer syndrome
     A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease....more »
    384. Bartonella infections
     Infection with bacteria from the Bartonella genus of bacteria. Specific bacteria from within this group are Bartonella bacilliforms (Oroya fever), Bartonella Heneslae (Cat-scratch disease). Other conditions caused by this bacteria are endocarditis, bacter...more »
    385. Bartonellosis due to Bartonella quintana infection
     A disease caused by infection with Bartonella quintana which are transmitted by the body louse. It causes trench fever but may also result in septicemia and endocarditis in patients with a weakened immune system....more »
    386. Bartsocas Papa syndrome
     A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities....more »
    387. Bartter Syndrome
     A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels....more »
    388. 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 »
    389. 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 »
    390. Basal ganglia disease, biotin-responsive
     A neurological disease that affects the part of the brain called the basal ganglia. The disease responds well to biotin administration but relapses within a month if the biotin is stopped. If the condition is diagnosed late or there are recurring episodes...more »
    391. Basilar impression primary
     A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospina...more »
    392. Bassoe syndrome
     A very rare syndrome characterized primarily by hypogonadism, cataracts during infancy and muscle weakness....more »
    393. Battaglia Neri syndrome
     A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome....more »
    394. Bd syndrome
     A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder....more »
    395. Beals syndrome
     A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear....more »
    396. Beare-Stevenson cutis gyrata syndrome
     A rare genetic disorder involving skin and skull abnormalities due to the premature fusion of skull bones....more »
    397. Beare-Stevenson cutis gyrate syndrome
    398. Bearn-Kunkel syndrome
     A type of autoimmune liver disease characterized by liver damage, very high blood gammaglobulin levels and increased plasma cells....more »
    399. Becker Muscular Dystrophy
     A muscular dystrophy charaterised by enlargement of muscles...more »
    400. Becker nevus syndrome
     A rare disorder characterized by a pigmented hairy skin patch associated with skin, muscle or bone defects on the same side of the body as the skin lesion....more »
    401. Becker's muscular dystrophy (BMD)
     A slowly progressing muscle wasting disease that affects mainly the hip and shoulder muscles....more »
    402. Beckwith-Wiedemann Syndrome
     A rare genetic disorder characterized by macroglossia, omphalocele, macrosomia and ear creases....more »
    403. Bedsores
     Skin ulcers from prolonged pressure...more »
    404. Beemer-Ertbruggen syndrome
     A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported....more »
    405. Beemer-Langer syndrome
     A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy....more »
    406. Behcet's Disease
     Recurring inflammation of small blood vessels affecting various areas....more »
    407. Bellini-Chiumello-Rinoldi syndrome
     A very rare syndrome characterized primarily by mental retardation, short stature and unusual shaped ends of long bones....more »
    408. 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 »
    409. 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 »
    410. Bentham-Driessen-Hanveld syndrome
     A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation....more »
    411. 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 »
    412. Beriberi
     Disease due to vitamin B1 deficiency (thiamine)...more »
    413. Berk-Tabatznik syndrome
     A rare condition characterized by eye and skeletal problems....more »
    414. 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 »
    415. Bernard syndrome
     A familial condition characterized by acute anemia, jaundice, hemoglobinuria and destruction of red blood cells. Acute symptoms may follow an episode of fever, abdominal pain, vomiting, malaise and joint pain....more »
    416. 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 »
    417. Besnier-Boeck-Schaumann disease
     A rare disease where inflammatory granular nodules form in various organs....more »
    418. Bessel-Hagen disease
     A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones....more »
    419. 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 »
    420. 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 »
    421. 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 »
    422. Bethlem myopathy
     A rare, slow-progressing, genetic muscle disorder where the muscle gradually weaken and become wasted....more »
    423. Beveridge syndrome
     A rare syndrome characterized by a large head, skeletal and visceral problems and patches of reduced skin pigmentation....more »
    424. 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 »
    425. 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 »
    426. Bile acid synthesis defect, congenital, 4
     A defect which prevents the body from making bile acid which results in progressive liver disease....more »
    427. Bile acid synthesis defects
     A defect which prevents the body from making bile acid which results in progressive liver disease....more »
    428. 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 »
    429. 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 »
    430. 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 »
    431. Bile acid synthesis defects, congenital, 4
     A defect which prevents the body from making bile acid which results in progressive liver disease....more »
    432. Biliary cirrhosis
     Biliary cirrhosis is a condition where the bile ducts are unable to transport bile effectively due to blockage, inflammation, scarring or some other damage to the bile ducts. The condition may result from such things as congenital defect of the bile ducts...more »
    433. Bindewald-Ulmer-Muller syndrome
     A rare syndrome characterized mainly by a heart defect, and mental and growth retardation....more »
    434. Bird cherry seed poisoning
     Wild cherry seeds contain a chemical called amygdalin which breaks down into cyanide in the human body. The toxic chemicals are not released if the seed remains intact and therefore poisoning usually occurs if the seeds are crushed and eaten. Accidental i...more »
    435. Bird flu (avian influenza)
     Bird flu refers to influenza A invection. Influenza A is a viral respiratory infection that can usually occurs in birds (especially poultry) but can be transmitted to humans and cause serious illness. The virus is contagious and can cause severe illness e...more »
    436. 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 »
    437. Bird-headed dwarfism, Montreal type
     A rare condition characterized by dwarfism and a characteristic beak-shaped nose....more »
    438. 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 »
    439. Bitter almond seed poisoning
     Bitter almond seeds contain a chemical called amygdalin which breaks down into cyanide in the human body. Accidental ingestion is very unusual. Bitter almond plants grow mainly in Northern America. Various processes can be used to leach the toxic chemical...more »
    440. Bixler-Christian-Gorlin syndrome
     A very rare syndrome characterized primarily by widely spaced eyes, small ears and a clefts in the lip, palate and nose....more »
    441. Blast crisis
     The final phase of chronic myeloid leukemia which has a high mortality rate. Myeloid leukemia is a form of cancer where the bone marrow makes too many myeloid cells (granulocytes and their precursors) in the bone marrow which accumulates in the blood and ...more »
    442. Blastomycosis
     A fungal infection caused by Blastomyces dermatitidis and resulting in lung, skin, bone and genitourinary involvement....more »
    443. Blepharo facio skeletal syndrome
     A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities....more »
    444. Blepharophimosis -- nasal groove -- growth delay
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    445. Blepharophimosis -- nasal groove -- growth retardation
     A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove....more »
    446. Blepharophimosis -- ptosis -- esotropia -- syndactyly -- short stature
     A rare disorder characterized by eye anomalies, webbed fingers and short stature....more »
    447. Blepharophimosis ptosis esotropia syndactyly short
     A rare disorder characterized by eye anomalies, webbed fingers and short stature....more »
    448. Blepharophimosis telecanthus microstomia
     A rare syndrome characterized by a flat face, small mouth and ear anomaly as well as a range of other abnormalities....more »
    449. 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 »
    450. Blepharophimosis, large cylindrical nose and severe intrauterine growth retardation
     A rare syndrome characterized by eye and nose anomalies as well as severely retarded fetal growth....more »
    451. Blepharophimosis, ptosis, epicanthus inversus
     A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid....more »
    452. Blepharoptosis -- aortic anomaly
     A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta....more »
    453. Blethen-Wenick-Hawkins syndrome
     A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning....more »
    454. Blomstrand syndrome
     A rare lethal congenital condition characterized by abnormal bone development....more »
    455. Blood cancer
     Malignancy of one or several of the different types of cells in the blood...more »
    456. 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 »
    457. Blount disease
     A bone developmental disorder that affects the shin bone (tibia) resulting in a progressive bow-legged appearance due to the inward facing angle of the shin bone. One or both legs may be affected....more »
    458. Blue Diaper Syndrome
     A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies....more »
    459. Bone and cartilage tumors
     Any tumors affecting the bones or cartilage, including both cancerous and benign tumors....more »
    460. Bone cancer
     Malignancy that occurs in the bone...more »
    461. Bone dysplasia -- corpus callosum agenesis
     A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities....more »
    462. Bone dysplasia Azouz type
     A rare disorder involving abnormal bone development characterized by a flattened spine and abnormal benign cartilage growths whitin bones which affects it's growth and strength....more »
    463. Bone dysplasia Moore type
     A rare disorder characterized by abnormally bowed long bones. The bowed bones may be symmetrical or asymmetrical. The condition has only been observed in two siblings and is believed to be a previously undescribed disorder....more »
    464. Bone dysplasia, lethal, Holmgren type
     A rare lethal bone malformation syndrome....more »
    465. 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 »
    466. Bone pain
     Bone pain or tenderness is aching or other discomfort in one or more bones....more »
    467. Bone-Marrow failure syndromes
     A disorder where the bone marrow fails to produce enough new blood cells....more »
    468. 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 »
    469. Bonnemann-Meinecke-Reich syndrome
     A rare disorder characterized mainly by growth problems, vision problems and brain disease....more »
    470. Boomerang dysplasia
     A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face....more »
    471. Borjeson Syndrome
     A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities....more »
    472. Borjeson-Forssman-Lehmann Syndrome
     A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities....more »
    473. Bornholm disease
     Contagious viral infection...more »
    474. Borreliosis
     An infectious bacterial disorder that is transmitted by ticks and causes skin rashes joint swelling and other symptoms similar to the flu....more »
    475. Borrone-Di Rocco-Crovato syndrome
     A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition....more »
    476. Bortonneuse fever
     A mild infectious disease caused by the bacterium Rickettsia Conorrii. The disease is transmitted by a dog tick (Riphicephalus sanguineus) and is most common in countries bordering the Mediterranean Sea. Incubation usually takes about one week....more »
    477. Bosviel syndrome
     A rare condition where a blood blister on the uvula ruptures. It often occurs as a complication of tracheal intubation....more »
    478. Boudhina-Yedes-Khiari syndrome
     A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions....more »
    479. Bouillaud's syndrome
     Heart inflammation caused by rheumatism. The inner lining of the heart (endocardium) as well as the membrane surrounding the heart (pericardium) become inflamed....more »
    480. Bowel bypass syndrome
     An illness that occurs in patients who have had bowel bypass surgery to treat obesity. The illness can occur days or even years after the operation. As many as a fifth of patients who undergo the operation may suffer the illness. It is believed to be caus...more »
    481. Bowel-associated dermatosis-arthritis syndrome
     An illness that sometimes occurs in people with gastrointestinal diseases. It is believed to be caused by a build up of bacteria in a pouch in the bowel which triggers the immune system into action....more »
    482. Bowing of legs, anterior, with dwarfism
     A very rare syndrome characterized primarily by dwarfism and bowed lower leg bones. Only one or two reported cases of the condition....more »
    483. Bowing of long bones congenital
     A rare congenital disorder where the long bones in the arms and legs are abnormally bowed or shortened. The most common bones involved are the thigh, shin and forearm (ulna) bones. The deformity is often associated with other abnormalities....more »
    484. Bowing, congenital, short bones
     A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones....more »
    485. 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 »
    486. Brachioskeletogenital syndrome
     A rare syndrome characterized by...more »
    487. Brachycephalofrontonasal dysplasia
     A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities....more »
    488. Brachycephaly -- deafness -- cataract -- mental retardation
     A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation....more »
    489. Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation
     A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation....more »
    490. 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 »
    491. Brachydactyly -- anonychia
     A rare syndrome characterized by short toes and nail abnormalities....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 -- mesomelia -- mental retardation -- heart defects
     A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs....more »
    495. Brachydactyly -- scoliosis -- carpal fusion
     A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones....more »
    496. Brachydactyly -- small stature -- face anomalies
     A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies....more »
    497. Brachydactyly -- tibial hypoplasia
     A rare syndrome characterized by short digits and an underdeveloped or absent shin bone....more »
    498. 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 »
    499. Brachydactyly with hypertension
     A very rare disease characterized by the association of hypertension with brachydactyly (abnormally short fingers and/or toes)....more »
    500. Brachydactyly, long thumb type
     A rare digital anomaly characterized by short fingers and a long thumb....more »
    501. 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 »
    502. Brachyolmia
     A syndrome characterized mainly by short trunk dwarfism. There are several different subtypes, each with different additional features....more »
    503. Brachyolmia, recessive Hobaek type
     A rare bone disorder characterized by a short trunk dwarfism....more »
    504. Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
     A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone....more »
    505. Brachyrachia
     A rare inherited spine condition characterized by dwarfism due to a short spine....more »
    506. Braddock Jones Superneau syndrome
     A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the br...more »
    507. Brain -- bone -- fat
     A rare inherited disease characterized by bone cysts and progressive presenile dementia....more »
    508. Brain Stem Neoplasms
     A brain stem tumor. The tumor may be malignant or benign and the severity of the condition is determined by the size of the tumor and exact location....more »
    509. 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 »
    510. 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 »
    511. 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 »
    512. Branchio-Oculo-Facial Syndrome
     A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip....more »
    513. Branchiootic syndrome
     A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset....more »
    514. Breast Duct Papilloma
     Benign tumour of the collecting duct of the breast....more »
    515. Brill disease
     A form of recurring typhus caused by a bacterium called Rickettsia prowazekii and transmitted by lice. The illness may occur years after the initial sickness and tends to be not as severe....more »
    516. Brittle bone syndrome lethal type
     A rare form of brittle bone disease caused by abnormal collagen production which results in weak bones which break easily. The condition can result in death, especially during the process of birth which can result in multiple severe fractures....more »
    517. Brittle hair -- mental deficiency
     A rare inherited disease characterized by brittle hair, mental retardation and fragile nails....more »
    518. Broberger-Zetterstrom syndrome
     A type of chronic bone abscess where a infected bone forms a pus-filled cavity. The abscess may cause no symptoms for many years....more »
    519. Brodie knee
     Chronic inflammation of the knee joint....more »
    520. Broken elbow
     Fracture at the elbow joint...more »
    521. 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 »
    522. Bronchopulmonary dysplasia
     A rare form of infant lung disease that usually occurs as a complication of ventilator use in premature babies....more »
    523. 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 »
    524. Brown-Sequard Syndrome
     A disorder where spinal cord compression and lesions involve only half of the spinal cord....more »
    525. Brucellosis
     An infectious disease caused by the Brucella genus which is transmitted from animals to humans....more »
    526. Bruch's disease
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    527. Bruck syndrome
     A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin....more »
    528. Bruck syndrome 1
     A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth....more »
    529. Bruck syndrome, 2
     A very rare syndrome characterized primarily by limited joint extension (congenital contractures), weak fragile bones and webbed skin at elbows and knees....more »
    530. Bruns-Garland syndrome
     Spinal cord damage that occurs in some diabetics and results in weakness and wasting in the arms and legs....more »
    531. 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 »
    532. 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 »
    533. Bullous systemic lupus erythematosus
     A blistering disease that can develop in patients with systemic lupus erythematosus (SLE). The process is mediated by autoantibodies....more »
    534. Buntinx-Lormans-Martin syndrome
     A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones....more »
    535. Burkholderia pseudomallei
     Gram negative, aerobic, motile rod shaped bacterium....more »
    536. Burn-McKeown syndrome
     A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies....more »
    537. Bursitis
     Inflammation of one or more bursae (small sacs) of synovial fluid in the body....more »
    538. Buttiens-Fryns syndrome
     A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet....more »
    539. C-like syndrome
     A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay....more »
    540. CAMFAK syndrome
     A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature....more »
    541. CCFDN
     A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy....more »
    542. 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 »
    543. 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 »
    544. CDG syndrome type 3
     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 3 has variable symptoms....more »
    545. CDG syndrome type 4
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 4 is caused by a genetic defect which involves t...more »
    546. CDG syndrome type I
     A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems....more »
    547. 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 »
    548. 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 »
    549. 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 »
    550. 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 »
    551. 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 »
    552. 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 »
    553. 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 »
    554. CHARGE Syndrome
     A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects....more »
    555. COFS syndrome
     A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage....more »
    556. 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 »
    557. Calabro syndrome
     A rare syndrome characterized mainly by premature fusion of skull bones, arm and leg abnormalities, small jaw, short neck and genital defects....more »
    558. Calcium deficiency
     Dietary deficiency of calcium....more »
    559. Calvarial doughnut lesions -- bone fragility
     A rare disorder characterized by a number of doughnut shaped lesions on the skull which makes the skull lumpy. Weak bones resulting in fractures without trauma and dental decay are also features of this disorder....more »
    560. Camera Costa Syndrome
     Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect....more »
    561. Camera-Marugo-Cohen syndrome
     A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body....more »
    562. 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 »
    563. 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 »
    564. Campomelic dwarfism
     A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face....more »
    565. Campomelic dysplasia
     A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face....more »
    566. Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia
     A rare syndrome characterized by a hand deformity and skeletal abnormalities....more »
    567. 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 »
    568. 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 »
    569. Camptodactyly syndrome, Guadalajara type 2
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly)....more »
    570. Camptodactyly syndrome, Guadalajara type 3
     A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly)....more »
    571. Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
     A rare syndrome characterized by a hand deformity and skeletal abnormalities....more »
    572. 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 »
    573. Camptomelic dysplasia I
     A rare condition characterized by dwarfism due to bowed shin and thigh bones....more »
    574. 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 »
    575. Camptomelic syndrome
     A rare inherited skeletal disorder characterized by short stature, missing ribs and other abnormalities....more »
    576. Campylobacter food poisoning
     Common bacterial infection usually from chicken....more »
    577. Campylobacter sputorum infection
     A bacterial infection that involves bacteria from the Campylobacter family. It tends to cause gastrointestinal symptoms....more »
    578. Camurati-Engelmann Disease
     A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain....more »
    579. 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 »
    580. Cantu Sanchez-Corona Fragoso syndrome
     A rare syndrome characterized mainly by severe mental retardation, dwarfism and delayed puberty....more »
    581. Cantu Sanchez-Corona Garcia-cruz syndrome
     A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities....more »
    582. Cantú syndrome
     A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage...more »
    583. Capnocytophaga
     A bacterial infection caused by Capnocytophaga canimorsus which is often found in normal healthy cats and dogs. The infections tends to occur mainly in immunocompromised patients, alcoholics or patients who have chronic respiratory disease or have had the...more »
    584. 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 »
    585. Carbimazole -- Teratogenic Agent
     There is strong evidence to indicate that exposure to Carbimazole 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 »
    586. 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 »
    587. Carbon Baby Syndrome
     A rare condition characterized by progressive increase in pigmentation of mucosal lining and skin....more »
    588. Carcinoid syndrome
     Carcinoid heart disease is a rare, metastatic disease that occurs predominantly in the right heart. The tricuspid and pulmonic valves are affected, leading to right heart failure, which results in increased morbidity and mortality....more »
    589. Cardiocranial syndrome
     A rare syndrome characterized mainly by heart and skull abnormalities....more »
    590. Cardiomelic syndrome Stratton Koehler type
     A rare syndrome characterized mainly by heart and skeletal abnormalities....more »
    591. Cardiomyopathy cataract hip spine disease
     A rare genetic disorder characterized by heart muscle disease, cataracts and hip and spinal problems....more »
    592. Carnevale-Canun-Mendoza syndrome
     A rare disorder characterized by loss of bone tissue in the wrists and ankles as well as kidney problems....more »
    593. Carnevale-Krajewska-Fischetto syndrome
     A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay....more »
    594. Carney syndrome
     A very rare syndrome characterized by spotty pigmentation on the skin and the development of multiple benign tumors (myxoma) that can occur just about anywhere in the body but mainly in the skin, breast and heart and endocrine glands such as the thyroid a...more »
    595. Carpal deformity -- micrognathia -- microstomia
     A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth....more »
    596. Cartilage Hair Hypoplasia
     A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair....more »
    597. Cartilage conditions
     Medical conditions affecting the cartilage....more »
    598. 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 »
    599. Cartilaginous -- arthritic -- ophthalmic -- deafness syndrome
     A rare syndrome characterized by the association of eye, joint and cartilage disease as well as deafness....more »
    600. Cartilaginous neoplasms
     Tumors made up of cartilage tissue. The tumors may be benign or malignant and the symptoms will depend on the location and size of the tumors. The tumors can form on parts of the body such as the arm and leg bones or even in the pharynx. The tumors may ca...more »
    601. Cartwright-Nelson-Fryns syndrome
     A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities....more »
    602. 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 »
    603. Castellani syndrome
     A rare syndrome characterized by fever, arthritis and enlarged kidney and liver. The fever may fluctuate or come and go. It is most often seen in middle aged males....more »
    604. 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 »
    605. Cat scratch disease
     An infectious disease transmitted through a cat's bite, scratch or lick and resulting primarily in lymph node pain and swelling. The condition can be mild or severe....more »
    606. Cat's cry
    607. Cataract -- aberrant oral frenula -- growth delay
     A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum)....more »
    608. Cataract -- ataxia -- deafness
     A rare syndrome characterized by cataracts, ataxia and progressive deafness....more »
    609. Cataract deafness hypogonadism
     A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production....more »
    610. Cataract skeletal anomalies
     A condition characterized by the association of cataracts and skeletal anomalies. Variable other symptoms may also be present....more »
    611. 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 »
    612. Catheter infection
     Infection due to an inserted catheter...more »
    613. 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 »
    614. Caudal duplication
     A rare disorder where some of the embryonic tissues that develop into the lower spine, genitalia and lower abdominal organs are duplicated - probably due to the incomplete separation of twins arising from one egg. The range of possible defects is extensiv...more »
    615. Cayler syndrome
     A very rare disorder involving heart defects and abnormalities involving the lower lip muscle....more »
    616. Celiac Disease
     Digestive intolerance to gluten in the diet....more »
    617. 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 »
    618. 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 »
    619. 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 »
    620. 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 »
    621. 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 »
    622. 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 »
    623. 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 »
    624. 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 »
    625. 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 »
    626. 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 »
    627. 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 »
    628. 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 »
    629. 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 »
    630. Cellulitis
     Inflammation of skin or subcutaneous tissues....more »
    631. Centronuclear myopathy, congenital
     A severe inherited form of muscle wasting disease which often results in infant death....more »
    632. Cephalic disorders
     Various congenital brain defects...more »
    633. 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 »
    634. Cerebellar abscess
     An abscess that forms in the part of the brain called the cerebellum. The abscess may result from other infections such as ear infections, dental abscess and lung infections. The prognosis is determined by the size and exact location of the abscess...more »
    635. Cerebellar ataxia, X-linked
     A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary....more »
    636. Cerebellar atrophy with progressive microcephaly
     A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures....more »
    637. 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 »
    638. Cerebelloparenchymal autosomal recessive disorder 3
     A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems....more »
    639. 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 »
    640. Cerebro oculo skeleto renal syndrome
     A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities....more »
    641. Cerebro-oculo-dento-auriculo-skeletal syndrome
     A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton....more »
    642. 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 »
    643. Cerebrorenodigital syndrome
     A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities....more »
    644. 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 »
    645. Cerebrotendinous Xanthomatosus
     A rare syndrome where a genetic mutation results in a metabolic disorders caused by a deficiency of sterol 27-hydroxylase deficiency. The condition causes progressive neurological dysfunction, cataracts and premature atherosclerosis. Deposits of cholester...more »
    646. Cervical Cancer
     Cervical cancer is malignant cancer of the cervix uteri or cervical area...more »
    647. Cervicooculoacoustic syndrome
     A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck....more »
    648. Charcot-Marie-Tooth Disorder
     Degeneration of limb muscles....more »
    649. Charcot-Marie-Tooth disease, Type 2K
     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 2K has an autosomal dominant inheritance and in...more »
    650. 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 »
    651. 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 »
    652. 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 »
    653. 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 »
    654. 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 »
    655. 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 »
    656. 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 »
    657. Chemical poisoning
     Morbid condition caused by chemical....more »
    658. Chemical poisoning -- Aluminum
     Aluminum is a chemical used mainly for metallurgical purposes and can be found in packaging, electrical parts, vehicles, cooking utensils, construction materials and building components. The type and severity of symptoms varies depending on the amount of ...more »
    659. Chemical poisoning -- Ammonium Bifluoride
     Ammonium Bifluoride is a chemical used wheel cleaners, herbicides and in the manufacture of magnesium. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    660. Chemical poisoning -- Glaze
     Glazes are used to put a shiny finish on various surfaces such as pottery. Glazes contain chemicals such as lead and zinc oxide which can cause serious symptoms if sufficient quantities are eaten. The chemicals cause damage to the gastrointestinal lining ...more »
    661. Chemical poisoning -- Hydrogen Fluoride
     Hydrogen Fluoride is a chemical used mainly in car cleaning products and in the production of integrated circuits. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severi...more »
    662. Chemical poisoning -- Molybdenum
     Molybdenum is a chemical used mainly in steel alloys lubricants. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure...more »
    663. Chemical poisoning -- Radium
     Radium is a chemical used mainly as an anti-cancer agent . 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 »
    664. Chemical poisoning -- Solder
     Solder contains various chemicals and heavy metals which can cause serious symptoms if sufficient quantities are swallowed. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure....more »
    665. Chemical poisoning -- Vinyl Choride
     Vinyl Choride is an intermediate chemical used in the manufacturing process of a variety of products: polyvinyl chloride, pipes, wire coverings, vehicle plastics, rubber, paper, furniture and glass. Ingestion and other exposures to the chemical can cause ...more »
    666. Chemical poisoning -- White Phosphorus
     White Phosphorus is a chemical used mainly in fertilizers, water treatment, rodenticides and insecticides (for cockroaches). Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on th...more »
    667. Chemke-Oliver-Mallek syndrome
     A very rare syndrome characterized mainly by eye and finger and toe abnormalities....more »
    668. Cherry laurel seed poisoning
     Wild cherry seeds contain a chemical called amygdalin which breaks down into cyanide in the human body. The toxic chemicals are not released if the seed remains intact and therefore poisoning usually occurs if the seeds are crushed and eaten. Accidental i...more »
    669. Cherry seed poisoning
     Cherry seeds contain a chemical called amygdalin which breaks down into cyanide in the human body. The toxic chemicals are not released if the seed remains intact and therefore poisoning usually only occurs if the seeds are crushed and eaten. Accidental i...more »
    670. 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 »
    671. Chitayat Meunier Hodgkinson syndrome
     A very rare syndrome characterized by face and finger abnormalities...more »
    672. Chitayat-Moore-Del Bigio syndrome
     A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies....more »
    673. Chitty-Hall-Webb syndrome
     A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass....more »
    674. 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 »
    675. 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 »
    676. 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 »
    677. Choanal atresia -- deafness -- cardiac defects -- dysmorphism
     A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies....more »
    678. Chokecherry seed poisoning
     Chokecherry seeds contain a chemical called amygdalin which breaks down into cyanide in the human body. The toxic chemicals are not released if the seed remains intact and therefore poisoning usually occurs if the seeds are crushed and eaten. Accidental i...more »
    679. 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 »
    680. 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 »
    681. 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 »
    682. Cholestatic jaundice -renal tubular insufficiency
     A very rare syndrome characterized by liver and kidney problems....more »
    683. Chondroblastoma (benign)
     A rare benign bone tumor that usually forms in the ends of long bones such as the leg bones....more »
    684. Chondrocalcinosis
     A rare inherited metabolic disorder where the chemical calcium pyrophosphate dihyrdate is deposited in one or more joints in the body - usually the knee is affected....more »
    685. Chondrocalcinosis 1
     A very rare genetic disorder characterized by progressive osteoarthritis which starts relatively early and is progressive. Joint damage is caused by deposits of crystals containing calcium....more »
    686. Chondrocalcinosis 2
     A very rare genetic disorder characterized by progressive osteoarthritis. Joint damage is caused by deposits of crystals containing calcium....more »
    687. 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 »
    688. Chondrodysplasia -- pseudohermaphrodism
     A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems....more »
    689. Chondrodysplasia Punctata, Rhizomelic type
     A rare genetic disorder characterized by slow growth, mental deficiency, characteristic facial features and skeletal deformities particularly of the limbs, spine and pelvis....more »
    690. 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 »
    691. 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 »
    692. 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 »
    693. 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 »
    694. Chondrodysplasia punctata, brachytelephalangic
     A rare disorder characterized by abnormal bone development involving stippled (speckled) calcification of growing ends of long bones. The main features of this disorder are retarded growth, facial anomalies and short end bones in fingers....more »
    695. 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 »
    696. 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 »
    697. Chondrodysplasia punctata, tibia-metacarpal type
     A rare inherited disorder involving abnormal skeletal development and characterized mainly by short shin bones and shortness of some metacarpal bones (hand bones)....more »
    698. Chondrodysplasia, Grebe type
     A rare genetic disorder characterized by dwarfism and various limb deformities....more »
    699. Chondrodysplasia, acromesomelic, with genital anomalies
     A very rare condition characterized by severe limb malformations and genital anomalies. The reported case involved related parents....more »
    700. Chondrodysplasia, type Nance-Sweeney
     A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies....more »
    701. Chondrodystrophia calcificans congenita
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    702. Chondrodystrophia punctata, autosomal dominant
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    703. Chondrodystrophy
     The abnormal development of cartilage which affects bone growth. The long bones of the body tend to be affected the most and results in short limbs....more »
    704. Chondroectodermal dysplasia
     A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities....more »
    705. Chondromalacia
     Degeneration or irritation of joint cartilage that usually affects the knees. It is believed to be caused most often by overuse of the joint....more »
    706. Chondromatosis (benign)
     Benign cartilage growths that can occur in various parts of the body. Symptoms are determined by the size and exact location of the growth. For example, a spinal chondroma can result in compression of the spinal cord....more »
    707. Chondrosarcoma (malignant)
     A form of bone cancer that originates from cartilage tissue. The most common areas affected are the pelvic bones, femur, humerus, arm, spine and ribs...more »
    708. Choroideremia -- hypopituitarism
     A rare inherited disorder characterized by eye disease and hypopituitarism....more »
    709. Christian's syndrome 1
     A rare recessively inherited syndrome characterized by premature skull fusion, cleft palate, permanently flexed fingers and various other anomalies....more »
    710. Christian-Demyer-Franken syndrome
     A rare syndrome characterized mainly by mental retardation and skeletal abnormalities....more »
    711. 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 »
    712. Chromosome 1(q12q22) duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q12q22) of chromosome 1 which results in various abnormalities....more »
    713. 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 »
    714. 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 »
    715. Chromosome 1, Terminal deletion
     A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients....more »
    716. 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 »
    717. 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 »
    718. 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 »
    719. 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 »
    720. Chromosome 1, monosomy 1p32
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia....more »
    721. Chromosome 1, monosomy 1p34 p32
     A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems....more »
    722. 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 »
    723. 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 »
    724. 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 »
    725. Chromosome 1, proximal deletion
    726. 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 »
    727. 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 »
    728. 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 »
    729. 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 »
    730. Chromosome 10, Monosomy 10p
    731. 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 »
    732. 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 »
    733. 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 »
    734. 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 »
    735. 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 »
    736. 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 »
    737. 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 »
    738. 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 »
    739. Chromosome 11, Partial Trisomy 11q
     A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severit...more »
    740. 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 »
    741. Chromosome 11p, partial deletion
     A rare genetic syndrome caused by the deletion of part of the genetic material in the short arm of chromosome 11. The type and severity of symptoms may vary depending on the exact size and location of the genetic material that is missing. The genetic abno...more »
    742. 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 »
    743. Chromosome 11q partial deletion
     A rare chromosomal disorder where a portion of chromosome 11 is missing and is characterized by trigonencephaly, heart defects and a large, carp-shaped mouth....more »
    744. 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 »
    745. 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 »
    746. 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 »
    747. 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 »
    748. 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 »
    749. 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 »
    750. 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 »
    751. 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 »
    752. 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 »
    753. 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 »
    754. 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 »
    755. 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 »
    756. 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 »
    757. 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 »
    758. 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 »
    759. 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 »
    760. 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 »
    761. Chromosome 13q-mosaicism
     A very rare chromosomal disorder where a copy of the long arm of chromosome 13 in some of the body's cells. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect....more »
    762. 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 »
    763. 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 »
    764. 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 »
    765. Chromosome 14 trisomy syndrome
     A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities....more »
    766. Chromosome 14 uniparental disomy syndrome
     A rare chromosomal disorder where two homologues are obtained from one parent....more »
    767. Chromosome 14, deletion 14q, partial duplication 14p
     A rare chromosomal disorder where deletion of a portion of chromosome 14 and duplication of another portion of chromosome 14 causes various abnormalities such as congenital heart defect, excessive skin on neck and mouth defects....more »
    768. 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 »
    769. Chromosome 14q deletion syndrome
     A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities....more »
    770. Chromosome 14q, partial deletion
     A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities....more »
    771. 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 »
    772. 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 »
    773. 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 »
    774. 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 »
    775. 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 »
    776. Chromosome 15 trisomy
     A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15....more »
    777. 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 »
    778. 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 »
    779. Chromosome 15q, partial duplication (distal q arm)
     A rare chromosomal disorder involving an extra copy of genetic material from the distal part of the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    780. Chromosome 15q, partial duplication (unbalanced translocation)
     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 »
    781. 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 »
    782. 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 »
    783. 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 »
    784. 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 »
    785. 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 »
    786. 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 »
    787. 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 »
    788. 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 »
    789. 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 »
    790. 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 »
    791. 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 »
    792. 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 »
    793. 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 »
    794. 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 »
    795. 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 »
    796. Chromosome 18 deletion syndrome
     A rare chromosomal disorder where a portion of chromosome 18 is missing....more »
    797. 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 »
    798. 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 »
    799. 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 »
    800. 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 »
    801. 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 »
    802. 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 »
    803. Chromosome 19p duplication syndrome
     A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities....more »
    804. 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 »
    805. 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 »
    806. 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 »
    807. 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 »
    808. 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 »
    809. 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 »
    810. 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 »
    811. 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 »
    812. Chromosome 2 trisomy syndrome
     A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two....more »
    813. 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 »
    814. 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 »
    815. Chromosome 2, monosomy 2q24
     A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2....more »
    816. 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 »
    817. 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 »
    818. 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 »
    819. 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 »
    820. 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 »
    821. 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 »
    822. Chromosome 21 Ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 21 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 »
    823. 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 »
    824. Chromosome 21, monosomy 21q22
     A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted....more »
    825. 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 »
    826. 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 »
    827. Chromosome 21q, partial deletion
     A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted....more »
    828. 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 »
    829. 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 »
    830. 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 »
    831. Chromosome 22, microdeletion 22q11
     A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted....more »
    832. 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 »
    833. 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 »
    834. Chromosome 22q deletion syndrome
     A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities....more »
    835. Chromosome 22q duplication syndrome
     A rare chromosomal disorder where the long arm of chromosome 22 is duplicated....more »
    836. 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 »
    837. Chromosome 22q11 deletion
     A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location....more »
    838. 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 »
    839. 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 »
    840. 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 »
    841. 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 »
    842. 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 »
    843. 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 »
    844. 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 »
    845. 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 »
    846. Chromosome 3, monosomy 3p25
     A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities....more »
    847. 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 »
    848. 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 »
    849. 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 »
    850. 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 »
    851. Chromosome 3/B translocation
     A rare chromosomal disorder involving a translocation of genetic material of chromosome 3....more »
    852. 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 »
    853. 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 »
    854. 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 »
    855. 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 »
    856. 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 »
    857. Chromosome 4, monosomy 4p14 p16
     A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies....more »
    858. 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 »
    859. 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 »
    860. 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 »
    861. 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 »
    862. 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 »
    863. 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 »
    864. 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 »
    865. 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 »
    866. 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 »
    867. 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 »
    868. 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 »
    869. 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 »
    870. 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 »
    871. 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 »
    872. 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 »
    873. 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 »
    874. 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 »
    875. Chromosome 6p partial duplication
     A rare chromosomal disorder involving duplication of part of the short arm (p) of chromosome 6 resulting in various abnormalities depending on the amount and location of the duplicated genetic material....more »
    876. Chromosome 6pter-p24 Deletion Syndrome
     A rare genetic syndrome characterized by deletion of genetic material in the chromosomal region 6pter-p24....more »
    877. 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 »
    878. 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 »
    879. Chromosome 7 deletion p15.1-p21.1
     A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities....more »
    880. 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 »
    881. 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 »
    882. 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 »
    883. 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 »
    884. Chromosome 7, deletion 7q2
     A rare chromosomal disorder involving the deletion of a portion of the long arm of chromosome 7....more »
    885. Chromosome 7, monosomy 7q2
     A rare chromosomal disorder involving the deletion of a portion of the long arm of chromosome 7....more »
    886. Chromosome 7, monosomy 7q21
     A rare chromosomal disorder characterized by mental retardation, short stature, facial anomalies and muscle and distal limb abnormalities....more »
    887. 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 »
    888. 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 »
    889. 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 »
    890. 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 »
    891. 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 »
    892. 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 »
    893. 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 »
    894. 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 »
    895. 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 »
    896. 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 »
    897. Chromosome 7q partial deletion
     A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of deleted genetic material....more »
    898. 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 »
    899. Chromosome 8 recombinant syndrome
     A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities....more »
    900. 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 »
    901. 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 »
    902. 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 »
    903. 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 »
    904. 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 »
    905. 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 »
    906. 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 »
    907. 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 »
    908. 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 »
    909. 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 »
    910. 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 »
    911. 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 »
    912. 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 »
    913. 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 »
    914. 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 »
    915. 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 »
    916. 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 »
    917. 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 »
    918. 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 »
    919. 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 »
    920. Chromosome 9, Trisomy 9p (Multiple Variants)
     A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities....more »
    921. 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 »
    922. 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 »
    923. 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 »
    924. 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 »
    925. 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 »
    926. 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 »
    927. 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 »
    928. 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 »
    929. 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 »
    930. Chromosome 9q deletion syndrome
     A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms....more »
    931. 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 »
    932. Chromosome 9q duplication syndrome
     A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities....more »
    933. 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 »
    934. 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 »
    935. Chromosome diploid-triploid mosaicism syndrome
     A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism....more »
    936. 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 »
    937. 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 »
    938. Chronic Fatigue Syndrome
     Severe chronic fatigue disorder often following infection....more »
    939. Chronic Granulomatous Disease
     A very rare inherited blood disorder where certain cells involved with immunity (phagocytes) are unable to destroy bacteria and hence the patient suffers repeated bacterial infections....more »
    940. Chronic Hepatitis
     Chronic hepatitis is defined as inflammatory disease of the liver lasting for more than six months....more »
    941. Chronic Hepatitis B
     Chronic form of HepB liver infection....more »
    942. Chronic Hepatitis C
     Chronic form of Hepatitis C viral liver infection....more »
    943. Chronic Joint pain
     It is inflammation and infection of one or more joints, which results in pain, swelling, stiffness, and limited movement.....more »
    944. 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 »
    945. Chronic Lymphocytic Leukemia, Susceptibility to
     A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased su...more »
    946. Chronic Lymphocytic Leukemia, Susceptibility to, 1
     A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased su...more »
    947. Chronic Lymphocytic Leukemia, Susceptibility to, 2
     A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased su...more »
    948. Chronic Lymphocytic Leukemia, Susceptibility to, 3
     A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased su...more »
    949. Chronic Lymphocytic Leukemia, Susceptibility to, 4
     A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased su...more »
    950. Chronic Lymphocytic Leukemia, Susceptibility to, 5
     A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased su...more »
    951. Chronic Myeloproliferative Disease, Unclassified
     A form of blood disorder characterized by the abnormal proliferation of myeloid precursors in the bone marrow. This category refers to cases of myeloproliferative disease which don't fit into any of the other specific type of myelproliferative diseases....more »
    952. 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 »
    953. Chronic Neutrophilic Leukemia
     A rare form of leukemia characterized by excessive levels of mature neutrophils....more »
    954. Chronic Pain Syndromes
     Any of a variety of disorders that can cause chronic pain of different types....more »
    955. Chronic interstitial cystitis
    956. Chronic leukemia
     Leukemia in which the cell line is well differentiated, usually B lymphocytes....more »
    957. Chronic lymphocytic leukemia
     A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body....more »
    958. Chronic myelogenous leukemia
     A slow-growing cancer of the white blood cells where the bone marrow makes too many white blood cells which eventually invade various parts of the body....more »
    959. Chronic myelomonocytic leukemia
     A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of certain blood cells - myelocytes and monocytes. The proliferation is slower than in acute forms of the disease....more »
    960. 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 »
    961. Chronic vitamin A toxicity
     Chronic excessive ingestion of vitamin A can cause symptoms....more »
    962. Chudley syndrome 1
     A rare syndrome characterized by mental retardation, obesity, hypogonadism and a distinctive mouth....more »
    963. Chylomicron retention disease with Marinesco-Sjogren syndrome
     A rare condition characterized by abnormal lipid metabolism, vitamin E deficiency, incoordination and short stature....more »
    964. Ciguatera poisoning
     Rare toxic food poisoning from eating contaminated fish...more »
    965. 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 »
    966. 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 »
    967. 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 »
    968. Classical Hodgkin disease
     Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be ...more »
    969. 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 »
    970. Claudication pain
     Pain that occurs in the legs when walking or exercising. It is usually the result of circulation problems which affects the flow of blood to the leg muscles. In severe cases, the pain may persist even when the patient is inactive....more »
    971. Clavicle, pseudoarthrosis of, congenital
     A rare congenital condition where the collarbone doesn't develop normally....more »
    972. Clayton-Smith Donnai syndrome
     A very rare syndrome characterized by scaly skin and facial and finger anomalies....more »
    973. Cleft lip -- palate -- abnormal thumbs -- microcephaly
     A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate....more »
    974. Cleft lip and palate -- malrotation -- cardiopathy
     A very rare syndrome characterized by heart defects, malrotated intestines and various facial anomalies....more »
    975. Cleft lip palate -- deafness -- sacral lipoma
     A very rare syndrome characterized mainly by an opening in the palate and lip, deafness and a lipoma in the end portion of the spine....more »
    976. Cleft palate -- coloboma -- deafness
     A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness....more »
    977. 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 »
    978. 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 »
    979. Cleft palate -- stapes fixation -- oligodontia
     A very rare syndrome characterized by an opening in the roof of the mouth (cleft palate, the absence of six or more permanent teeth and hearing loss due to an inner ear abnormality (stapes fixation)....more »
    980. 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 »
    981. Cleidocranial dysplasia
     A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption....more »
    982. Cleidorhizomelic syndrome
     A very rare inherited syndrome mainly involving skeletal abnormalities....more »
    983. 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 »
    984. Clomiphene Citrate -- Teratogenic Agent
     There is evidence to indicate that exposure to Clomiphene Citrate 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 »
    985. 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 »
    986. 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 »
    987. Cloverleaf skull micromelia thoracic dysplasia
     A rare disorder characterized by a cloverleaf skull deformity, small limbs and bone abnormalities of the chest and spine. The disorder is lethal....more »
    988. Coarse face -- hypotonia -- constipation
     A very rare syndrome characterized by coarse facial features, poor muscle tone and constipation....more »
    989. 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 »
    990. Coccidioidomycosis
     An infectious disease caused by a fungus called Coccidioides immitis which is found in the soil. Transmission usually occurs through inhalation but can rarely occur through the skin. Very rarely, infection can spread throughout the body to involve the ski...more »
    991. Cockayne syndrome
     A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin....more »
    992. 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 »
    993. 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 »
    994. 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 »
    995. Coconut crab poisoning
     The coconut crab is commonly found and eaten as a delicacy in the Indo-Pacific region. These crabs can contain toxic chemicals which can cause severe poisoning in humans if eaten. The toxicity of these crabs is believed to be derived from the ingestion of...more »
    996. 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 »
    997. 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 »
    998. Coffin syndrome 1
     A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development....more »
    999. Coffin-Lowry syndrome
     A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers....more »
    1000. Coffin-Siris Syndrome
     A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features....more »
    1001. Cohen Syndrome
     A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth....more »
    1002. Cohen-Hayden syndrome
     A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head....more »
    1003. Colavita-Kozlowski syndrome
     A very rare syndrome characterized by dwarfism and resulting in death at birth or in the weeks following birth....more »
    1004. Cold & Flu
    1005. 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 »
    1006. 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 »
    1007. 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 »
    1008. Collins-Dennis-Clarke-Pope Syndrome
     A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects....more »
    1009. Collins-Pope syndrome
     A very rare syndrome characterized by a dislocated hip, increased finger flexibility and facial anomalies....more »
    1010. Collins-Sakati syndrome
     A very rare syndrome characterized mainly by a short, broad toe and a large head....more »
    1011. Coloboma of macula, type B brachydactyly
     A rare disorder characterized by congenital macular colobomas and finger and toe abnormalities....more »
    1012. Colorado tick encephalitis
     A viral disease transmitted through the bite of ticks (Rocky Mountain wood tick and American dog tick) who are infected with the virus. Because the virus infects blood cells including erythrocytes, transmission can also occur through transfusion with infe...more »
    1013. Combarros Calleja Leno syndrome
     A rare disorder characterized by the association of glaucoma at birth with a form of ataxia....more »
    1014. 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 »
    1015. 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 »
    1016. Complement component 2 deficiency
     A rare disorder where a deficiency of a compound called complement component 2 impairs the bodies ability to fight infection and autoimmune disorders....more »
    1017. 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 »
    1018. 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 »
    1019. 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 »
    1020. 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 »
    1021. Congenital Gigantism with Skeletal Dysplasia
     A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies....more »
    1022. 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 »
    1023. Congenital Muscular Dystrophy
     Muscle weakness and wasting that starts at birth or around the time of birth. The severity and extent of muscle involvement is greatly variable....more »
    1024. Congenital SMA with arthrogryposis
     Type of SMA (genetic motor neuron disease) appearing from birth...more »
    1025. Congenital craniosynostosis maternal hyperthyroiditis
     The association of maternal thyroid disease with premature fusion of skull bones in infants. Studies have shown and increased risk of craniosynostosis in infants born to mothers with hyperthyroidism....more »
    1026. 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 »
    1027. 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 »
    1028. 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 »
    1029. 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 »
    1030. 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 »
    1031. 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 »
    1032. 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 »
    1033. Congenital disorder of glycosylation type 2E
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2e is caused by a defect on chromosome 16p and i...more »
    1034. 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 »
    1035. Congenital fiber type disproportion
     A rare inherited disease involving abnormalities in the growth of type I muscle fibers....more »
    1036. 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 »
    1037. 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 »
    1038. Congenital herpes simplex
     An infant born with a herpes simplex infection transmitted through the mother. The infection may be localized or involve various internal organs and even the central nervous system in which case death can occur....more »
    1039. 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 »
    1040. Congenital megalo-ureter
     A birth defect where the ureter is abnormally dilated due to a structural obstruction of the end portion of the ureter....more »
    1041. Congenital syphilis
     Syphilis inherited from mother during pregnancy....more »
    1042. 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 »
    1043. Connective tissue disorders
     Any condition affecting connective tissues....more »
    1044. 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 »
    1045. Conor's disease
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    1046. Conradi-Huenermann Syndrome
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    1047. Conradi-Hunermann syndrome
     A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities....more »
    1048. Conradi-Hünermann Syndrome
     A condition which affects the development of bone and cartilage...more »
    1049. Contractures hyperkeratosis lethal
     A rare fatal congenital syndrome where numerous abnormalities arise from reduced fetal movement due to excessively tight skin....more »
    1050. Cooperman-Miura syndrome
     A rare syndrome characterized by various oral anomalies such as malocclusion, recessed jaw, narrowed breathing airways and irritation of the back of the tongue and uvula. The recessed jaw causes the tongue and uvula to be too close together which leads to...more »
    1051. 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 »
    1052. 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 »
    1053. Corneal anesthesia deafness intellectual deficit
     A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems....more »
    1054. Corneal anesthesia deafness mental retardation
     A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems....more »
    1055. Corneal cerebellar syndrome
     A very rare syndrome involving eye problems and progressive motor control problems such as ataxia and weakness on one side of the body....more »
    1056. Corneal hypesthesia deafness intellectual deficit
     A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems....more »
    1057. 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 »
    1058. 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 »
    1059. 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 »
    1060. 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 »
    1061. Corneodermatoosseous syndrome
     A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems....more »
    1062. Corpus callosum agenesis -- blepharophimosis -- Robin sequence
     A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms....more »
    1063. Corpus callosum agenesis -- polysyndactyly
     A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies....more »
    1064. 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 »
    1065. 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 »
    1066. 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 »
    1067. Cortada Koussef Matsumoto syndrome
     A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation....more »
    1068. Cortical blindness -- mental retardation -- polydactyly
     A very rare syndrome characterized by mental retardation, extra fingers and vision loss....more »
    1069. Cortical hyperostosis-syndactyly
     A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones....more »
    1070. Costello syndrome
     A rare genetic disorder characterized by papillomas which may become malignant....more »
    1071. Costocoracoid ligament, congenitally short
     A very rare syndrome where the ligament that connects the shoulder blade to the first rib is abnormally short....more »
    1072. 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 »
    1073. Cousin Walbrau Cegarra Syndrome
    1074. Cousin Walbraum Cegarra syndrome
     A rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips....more »
    1075. Coxa vara, congenital
     A hip deformity present at birth and characterized by a reduced angle between the ball and shaft of the thigh bone....more »
    1076. Coxoauricular syndrome
     A very rare syndrome characterized by skeletal and ear abnormalities, short stature and deafness....more »
    1077. Crandall syndrome
     A very rare syndrome characterized by twisted hair, hearing loss and sex hormone deficiency....more »
    1078. Crane-Heise syndrome
     A very rare fatal disorder characterized by numerous abnormalities....more »
    1079. Cranio osteoarthropathy
     A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing....more »
    1080. Cranio-facio-cardio-skeletal dysplasia
     A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities....more »
    1081. Cranioacrofacial syndrome
     A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies....more »
    1082. Craniodiaphyseal dysplasia, autosomal dominant
     A rare inherited syndrome characterized mainly by bone overgrowth and sclerosis or hardening which affects mainly the skull but other bones are often involved as well. Craniotubular dysplasia is a similar condition but involves more severe hyperostosis an...more »
    1083. Craniodigital syndrome -- mental retardation
     A very rare syndrome characterized by webbed fingers and toes, mental retardation and skull and facial anomalies....more »
    1084. Cranioectodermal dysplasia
     A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities....more »
    1085. Craniofacial -- deafness -- hand syndrome
     A very rare syndrome characterized by facial anomalies, deafness and hand abnormalities....more »
    1086. 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 »
    1087. Craniofacial dysostosis type 1
     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 poor vision, hypoplasia of maxilla an impaired hearing....more »
    1088. 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 »
    1089. Craniofaciocardioskeletal syndrome
     A very rare syndrome characterized by facial, skull, heart and skeletal abnormalities....more »
    1090. Craniofaciocervical osteoglyphic dysplasia
     A very rare syndrome characterized by a short head and face, skeletal anomalies and destruction of tooth sockets....more »
    1091. Craniofrontonasal Syndrome
     A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement....more »
    1092. Craniofrontonasal dysplasia
     A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities....more »
    1093. Craniofrontonasal syndrome Teebi type
     A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities....more »
    1094. 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 »
    1095. Craniometadiaphyseal dysplasia, wormian bone type
     A rare syndrome characterized by various skeletal and skull anomalies....more »
    1096. Craniomicromelic syndrome
     A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth....more »
    1097. Craniostenosis cataract
     A rare condition characterized by the association of cataracts and premature fusion of the skull bones....more »
    1098. 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 »
    1099. Craniosynostosis -- Dandy-Walker -- Hydrocephalus
     A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the br...more »
    1100. Craniosynostosis -- alopecia -- brain defect
     A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect....more »
    1101. Craniosynostosis -- cataract
     A rare disorder characterized cataracts and the premature fusion of skull bones which gives the head an unusual shape....more »
    1102. Craniosynostosis -- congenital heart disease -- mental retardation
     A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation....more »
    1103. Craniosynostosis -- fibular aplasia
     A very rare disorder characterized primarily by the premature fusion of skull bones as well missing or underdeveloped fibula (lower leg bone behind shin bone)....more »
    1104. 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 »
    1105. 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 »
    1106. Craniosynostosis Maroteaux Fonfria type
     A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of t...more »
    1107. 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 »
    1108. Craniosynostosis arthrogryposis cleft palate
     A rare syndrome characterized by the association of craniosynostosis (premature fusion of skull bones), cleft palate and arthrogryposis....more »
    1109. Craniosynostosis cleft lip palate arthrogryposis
     A rare condition characterized mainly by the association of premature fusion of skull bones (craniosynostosis), cleft lip and/or palate and arthrogryposis....more »
    1110. Craniosynostosis exostoses nevus epibulbar dermoid
     A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using amin...more »
    1111. 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 »
    1112. 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 »
    1113. Craniosynostosis, anal anomalies, and porokeratosis
     A very rare disorder characterized primarily by the premature fusion of skull bones (coronal sutures), anal anomalies and a skin disorder called porokeratosis....more »
    1114. Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
     A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the br...more »
    1115. Craniotelencephalic dysplasia
     A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development....more »
    1116. Craniotubular syndrome
     A rare syndrome characterized mainly by bone overgrowth and sclerosis or hardening which affects mainly the skull but other bones are often involved as well. Craniodiaphyseal dysplasia is a similar condition but involves less severe hyperostosis and scler...more »
    1117. 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 »
    1118. 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 »
    1119. 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 »
    1120. 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 »
    1121. 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 »
    1122. Crohn's disease
     Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. The disease can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ...more »
    1123. Crome syndrome
     A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems....more »
    1124. 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 »
    1125. Crumpled helices and small mouth
     A very rare condition observed in two sibling and characterized by the association of a small mouth and crumpled ear helices....more »
    1126. Cryoglobulinemia
     These are immune cells that precipitate in the cold and redissolve on warming....more »
    1127. Cryptomicrotia -- brachydactyly syndrome
     A very rare syndrome characterized mainly by ear malformations and short fingers and toes....more »
    1128. Cryptorchidism -- arachnodactyly -- mental retardation
     A very rare syndrome characterized mainly by undescended testes, long thin fingers and mental retardation....more »
    1129. Crystal deposit disease
     A group of diseases characterized by the deposit of crystals in body tissues. Some examples of such disorders includes scleroderma, dermatomyositis, arthritis and kidney disease. The severity and type of symptoms depend on the nature and location of the c...more »
    1130. 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 »
    1131. Cushing syndrome, familial
     A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland....more »
    1132. Cushing's disease
    1133. 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 »
    1134. Cutaneous necrotizing vasculitis
     Inflammation and damage of the blood vessel walls that also affects the skin. The condition may occur on its own or as a result of an underlying condition....more »
    1135. Cutis Laxa with Bone Dystrophy
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1136. Cutis Laxa with Growth and Developmental Delay
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1137. 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 »
    1138. Cutis Laxa, Autosomal Recessive, Type IIA
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1139. 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 »
    1140. Cutis Laxa, Debre Type
     A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....more »
    1141. Cutis laxa -- osteoporosis
     A very rare disorder characterized mainly by loose skin and osteoporosis. The bones are so weak they fracture easily during infancy and can result in bone deformity....more »
    1142. Cutis laxa, recessive
     A recessively inherited form of cutis laxa which is characterized by loose, inelastic skin and is often associated with other serious internal disorders....more »
    1143. Cutis laxa, recessive type 1
     A severe, recessively inherited form of cutis laxa which is characterized by loose, inelastic skin and emphysema early in life....more »
    1144. Cutis laxa, recessive type 2
     A very rare syndrome characterized primarily by loose skin and delayed development....more »
    1145. Cutis verticis gyrata mental deficiency
     A rare inherited disorder characterized by mental retardation, seizures and eye and movement problems....more »
    1146. Cyclic neutropenia
     A rare blood disorder characterized by recurrent periods of extremely low blood levels of neutrophils which results in frequent infections. The low level usually occurs for about 7 days every 21 days. Levels of other blood components may also be affected....more »
    1147. 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 »
    1148. Cyprus facial neuromusculoskeletal syndrome
     A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face....more »
    1149. Cystic fibrosis -- gastritis -- megaloblastic anaemia
     A rare syndrome characterized mainly by cystic fibrosis, metaloblastic anemia, mental retardation and gastritis due to helicobacter pylori....more »
    1150. Cystic fibrosis -- gastritis -- megaloblastic anemia
     A very rare syndrome characterized primarily by cystic fibrosis, anemia and gastritis....more »
    1151. 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 »
    1152. Cytosine arabinose syndrome
     Symptoms following the use of a chemotherapy drug called cytosine arabinose....more »
    1153. Czeizel-Losonci syndrome
     A very rare syndrome characterized by missing fingers, ureter abnormalities, webbed fingers and toes and abnormal spinal development....more »
    1154. D ercole syndrome
     A very rare syndrome characterized mainly by short stature, small head and heart defects....more »
    1155. Daentl-Townsend-Siegel syndrome
     A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull....more »
    1156. Daentl-Towsend-Siegel syndrome
     A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull....more »
    1157. Dahlberg syndrome
     A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes....more »
    1158. Daish-Hardman-Lamont syndrome
     A very rare syndrome characterized mainly by loose joints, tall stature and buildup of fluid inside the skull....more »
    1159. 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 »
    1160. Dandy-Walker Syndrome
     A congenital brain malformation characterized by increased fluid in the brain....more »
    1161. Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures
     A rare X-linked syndrome characterized mainly by mental retardation and seizures....more »
    1162. 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 »
    1163. 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 »
    1164. Davenport-Donlan syndrome
     A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas....more »
    1165. Davis syndrome
     A very rare condition where short-limbed dwarfism is associated with immunodeficiency....more »
    1166. Davis-Lafer syndrome
     A very rare syndrome characterized mainly by mental retardation and unusual facial features....more »
    1167. De Barsy Syndrome
     A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities....more »
    1168. 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 »
    1169. 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 »
    1170. 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 »
    1171. 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 »
    1172. Deafness -- cataracts -- skeletal anomalies
     A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies....more »
    1173. Deafness -- craniofacial syndrome
     A very rare syndrome characterized mainly by deafness and abnormalities of the skull and face....more »
    1174. 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 »
    1175. Deafness -- goiter -- stippled epiphyses
     A congenital metabolic disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone....more »
    1176. Deafness -- lymphoedema -- leukemia
     A rare syndrome characterized by deafness, early-onset leukemia and lymphoedema in the lower legs....more »
    1177. Deafness -- skeletal dysplasia -- lip granuloma
     A very rare syndrome characterized mainly by deafness, skeletal abnormalities, mental retardation and full lips....more »
    1178. Deafness conductive -- ptosis -- skeletal anomalies
     A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities....more »
    1179. Deafness neurosensory -- pituitary dwarfism
     A very rare syndrome characterized by deafness and deficient sex hormone and pituitary hormone activity....more »
    1180. 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 »
    1181. Deafness, vitiligo, achalasia
     A rare disorder characterized by deafness, achalasia (difficulty swallowing) and patches of reduced pigmentation in the skin (vitiligo)....more »
    1182. Deafness-mental retardation, Martin-Probst type
     A rare disorder characterized mainly by deafness and mental retardation....more »
    1183. 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 »
    1184. 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 »
    1185. Decompression sickness
     Condition from overly rapid decompression, especially when diving....more »
    1186. Decreased serum phosphate
     Decreased serum phosphate (or hypophosphatemia) refers to an electrolyte disturbance involving a lower than normal level of phosphate in the blood. This abnormality may in some cases be associated with increased levels of phosphate in the urine but this d...more »
    1187. Deficiency-induced osteoporosis
     Bone loss has been linked to minerals, drugs and endocrine disorders and hence the term deficiency induced osteoporosis is a very generalised broad term which links together minerals, drugs and other diseases induced osteoporosis....more »
    1188. Degenerative Disc Disease
     Chronic or recurrent back and neck pain due to degeneration and occasionally prolapse of spinal discs....more »
    1189. 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 »
    1190. Del (2) (p15-p13)
     A rare chromosomal disorder characterized by severe developmental delay. The observations were made in two reported cases....more »
    1191. 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 »
    1192. Del (2) (q14-q21)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    1193. 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 »
    1194. 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 »
    1195. 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 »
    1196. 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 »
    1197. 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 »
    1198. 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 »
    1199. Del (2) (q37.1-qter)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    1200. 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 »
    1201. Del (2) (q37.3-qter) and dup (11) (q23.3-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 »
    1202. 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 »
    1203. Del (3) (p14.2-p12)
     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 »
    1204. 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 »
    1205. 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 »
    1206. Del (3) (q11-q21)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree....more »
    1207. 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 »
    1208. Del (3q21) and del (13q22.2)
     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 »
    1209. Del (4) (pter-p16 or p16.1)
     A very rare chromosomal disorder where a portion of the short arm (pter-p16 or p16.1) 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 materia...more »
    1210. 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 »
    1211. Del(1) (23-q25)
     A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing....more »
    1212. 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 »
    1213. 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 »
    1214. 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 »
    1215. 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 »
    1216. 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 »
    1217. Delayed membranous cranial ossification
     A very rare syndrome characterized mainly by abnormal calcification of the skull....more »
    1218. Delayed speech -- facial asymmetry -- strabismus -- ear lobe creases
     A very rare syndrome characterized mainly by speech delay, crease in the ear lobe, asymmetrical face and cross-eyed....more »
    1219. 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 »
    1220. 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 »
    1221. 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 »
    1222. Deletion 14q partial duplication 14p partial
     A rare chromosomal disorder where deletion of a portion of chromosome 14 and duplication of another portion of chromosome 14 causes various abnormalities such as congenital heart defect, excessive skin on neck and mouth defects. The type and severity of s...more »
    1223. 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 »
    1224. Deletion 22q11
     A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location....more »
    1225. 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 »
    1226. 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 »
    1227. 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 »
    1228. Deletion 6q16 q21
     A rare chromosomal disorder characterized primarily by facial anomalies, mental retardation and a short head....more »
    1229. Deletion of the Short Arm of Chromosome 1
     A condition characterized by deletion of the short arm of chromosome 1...more »
    1230. Delta-1-pyrroline 5-carboxylate synthetase deficiency
     A rare syndrome caused by an enzyme deficiency (Delta-1-pyrroline 5-carboxylate synthetase)....more »
    1231. 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 »
    1232. Dendrolimiasis
     A chronic illness caused by contact with certain poisonous caterpillar spines or urticating hairs....more »
    1233. Dengue fever
     An acute viral disease characterized by fever, rash and myalgia and caused by a flavivirus which is transmitted by mosquitoes....more »
    1234. Dennis cohen syndrome
     A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair....more »
    1235. Dennis-Fairhurst-Moore syndrome
     A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair....more »
    1236. Dent syndrome
     A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction....more »
    1237. Dent's disease
     A rare kidney disease inherited in a X-linked manner. It involves kidney tubule damage which results in progressive kidney dysfunction. There are two types of Dent's disease and they differ in the origin of the genetic defect....more »
    1238. Dent-Friedman syndrome
     A rare form of osteoporosis that occurs in children and adolescents and no cause can be determined....more »
    1239. 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 »
    1240. 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 »
    1241. Denys-Corbeel syndrome
     A rare familial syndrome characterized by short stature, mental retardation and kidney problems....more »
    1242. Deposition diseases related fibromyalgia
     Deposition diseases related fibromyalgia refers to fibromyalgia that is associated with deposition diseases. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Deposit...more »
    1243. Depression
     Various syndromes with excessive anxiety, phobias, or fear....more »
    1244. Depressive disorders
     Depression or its various related conditions....more »
    1245. Dermato-cardio-skeletal syndrome Borrone type
     A rare progressive syndrome characterized by skin, heart and skeletal abnormalities....more »
    1246. Dermatocardioskeletal syndrome, Boronne type
     A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect....more »
    1247. Dermatomyositis
     A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash....more »
    1248. Dermatoosteolysis, Kirghizian type
     A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms....more »
    1249. Dermatostomatitis, Stevens Johnson type
     A rare but serious condition involving inflammation and blistering of the skin and mucous membranes. It is believed to be an allergic reaction that can occur in response to some drugs or infectious diseases....more »
    1250. Dermo-odontodysplasia
     A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities....more »
    1251. Desbuquois dysplasia
     A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities....more »
    1252. 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 »
    1253. Desmoplastic cerebral astrocytoma of infancy
     A rare type of brain tumor that occurs in infants. The tumor consists of cancerous astrocytes....more »
    1254. 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 »
    1255. 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 »
    1256. Devic disease
     A rare nerve disorder involving demyelination of spinal cord and eye nerves....more »
    1257. Devriendt syndrome
     A rare syndrome characterized mainly by Robin sequence, short stature and seizures....more »
    1258. Di Guglielmo I -- acute
     A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms...more »
    1259. 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 »
    1260. 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 »
    1261. 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 »
    1262. 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 »
    1263. 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 »
    1264. Dialysis-related amyloidosis
     Amyloidosis (protein deposits) from kidney dialysis treatment....more »
    1265. 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 »
    1266. 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 »
    1267. 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 »
    1268. Diaphragmatic hernia, congenital
     A birth defect involving an abnormal opening in the diaphragm which is a structure that assists breathing and keeps the abdominal organs from moving into the chest. The abdominal organs can protrude through this abnormal opening and restrict the growth of...more »
    1269. Diaphyseal medullary stenosis with malignant fibrous histiocytoma
     A rare form of inherited bone cancer which tends to develop malignant changes. The condition has been observed in only a few families worldwide....more »
    1270. Diastematomyelia
     A congenital malformation involving a split in the spinal cord (diastematomyelia). Symptoms vary according to the size and location of the defect. Mild cases may cause few if any symptoms....more »
    1271. Diastrophic dysplasia
     A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities....more »
    1272. 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 »
    1273. 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 »
    1274. 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 »
    1275. 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 »
    1276. Die-Smulders-Vles-Fryns syndrome
     A very rare disorder characterized by facial anomalies, long thin fingers and mental retardation....more »
    1277. 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 »
    1278. Dieterich's disease
     A rare disorder involving destruction of the head of the metacarpal bone due to an interrupted blood supply to the bone. The metacarpal bone is the hand bone that attaches to the finger bones. The disorder is often associated with trauma, steroid use or s...more »
    1279. 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 »
    1280. Diflucan -- Teratogenic Agent
     There is evidence to indicate that exposure to Diflucan (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 by th...more »
    1281. 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 »
    1282. 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 »
    1283. 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 »
    1284. Dincsoy-Salih-Patel syndrome
     A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities....more »
    1285. Dinno-Shearer-Weisskopf syndrome
     A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies....more »
    1286. Diphallus -- rachischisis -- imperforate anus
     A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae....more »
    1287. 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 »
    1288. 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 »
    1289. 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 »
    1290. Dislocated elbow
     Dislocation of the elbow joint...more »
    1291. Dislocated jaw
     Improper separation of the jaw bones...more »
    1292. Dislocation
     Bone dislocated from a joint...more »
    1293. Distal arthrogryposis syndrome
     A rare genetic disorder characterized by congenital contractures and other physical defects....more »
    1294. 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 »
    1295. Distal colorectal cancer
     Approximately 75% of colorectal cancers are sporadic and develop in people with no specific risk factors. The remaining 25% of cases occur in people with significant risk factors....more »
    1296. 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 »
    1297. Distinctive Craniofacial Features -- Pterygia -- Mental Retardation
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    1298. Disuse osteoporosis
     Disuse osteoporosis is defined as localized or generalized bone loss resulting from reduction of mechanical stress on bones....more »
    1299. 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 »
    1300. Down Syndrome
     A chromosome syndrome causing physical effects and mental retardation....more »
    1301. 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 »
    1302. 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 »
    1303. 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 »
    1304. 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 »
    1305. Dreyfus syndrome
     A rare syndrome characterized by flattened vertebrae, kyphoscoliosis, spinal ankylosis, short neck, dwarfism and other abnormalities....more »
    1306. Drug Allergies
     Allergies to medications or other drugs....more »
    1307. Drug-induced osteoporosis
     Drug induced osteoporosis is both preventable and treatable....more »
    1308. Duane anomaly -- mental retardation
     A very rare syndrome characterized mainly by mental retardation and eye movement problems (Duane anomaly)....more »
    1309. Dubowitz Syndrome
     A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features....more »
    1310. Duchenne Muscular Dystrophy
     An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases....more »
    1311. Dup (1) (q11-q22)
     A very rare chromosomal disorder where a portion of the long arm (q11-q22) of chromosome one is duplicated....more »
    1312. 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 »
    1313. 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 »
    1314. 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 »
    1315. 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 »
    1316. 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 »
    1317. Dup (2) (p23-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 »
    1318. 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 »
    1319. 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 »
    1320. 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 »
    1321. 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 »
    1322. 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 »
    1323. 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 »
    1324. 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 »
    1325. 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 »
    1326. Dup (2) (q32-qter) and del (7) (pter-p22)
     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 »
    1327. Dup (3) (p22-p14)
     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 »
    1328. 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 »
    1329. 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 »
    1330. Dup (3) (pter-p24) and del (4) (pter-p16)
     A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in six reported cases. The manifestations linked to most genetic defects are often variable to some degree....more »
    1331. 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 »
    1332. 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 »
    1333. 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 »
    1334. 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 »
    1335. 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 »
    1336. 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 »
    1337. 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 »
    1338. 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 »
    1339. 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 »
    1340. 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 »
    1341. 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 »
    1342. 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 »
    1343. 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 »
    1344. Dup(1) (q11-q25) mosaicism
     A very rare chromosomal disorder where a portion of the long arm (q11-q25) of chromosome one is duplicated in some of the body's cells....more »
    1345. Dup(1) (q24-q31.2)
     A very rare chromosomal disorder where a portion of the long arm (q24-q31.2) of chromosome one is duplicated. In the reported case, death occurred within hours of birth....more »
    1346. 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 »
    1347. Dup(1p36.3)
     A very rare chromosomal disorder where a portion of the short arm (1p36.3) of chromosome one is duplicated....more »
    1348. 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 »
    1349. 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 »
    1350. 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 »
    1351. Duplication of leg mirror foot
     A birth malformation characterized by the absence of the tibia and partial duplication of the foot. The partial duplication of the foot means that one foot can have as many as nine toes. Usually only one foot is affected....more »
    1352. Dursun Syndrome
     A rare syndrome characterized mainly by the association of heart anomalies, pulmonary hypertension and leukopenia (reduced number of white blood cells)....more »
    1353. 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 »
    1354. Dwarfism -- bluish sclerae
     A form of dwarfism that also involves the presence of bluish sclera (due to abnormally thin sclera)....more »
    1355. Dwarfism -- deafness -- retinitis pigmentosa
     A very rare disorder characterized by deafness, dwarfism and an eye disorder....more »
    1356. Dwarfism -- stiff joint -- ocular abnormalities
     A very rare form of dwarfism characterized by short stature as well as stiff joints and eye abnormalities....more »
    1357. Dwarfism -- syndesmodysplasic
     A very rare form of dwarfism involving extremely short stature and progressive joint stiffness....more »
    1358. Dwarfism -- tall vertebrae
     A rare form of dwarfism characterized by short stature as well as unusually tall vertebrae and hip deformities....more »
    1359. 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 »
    1360. Dwarfism lethal type advanced bone age
     A rare lethal condition characterized by the association of dwarfism and advanced bone age....more »
    1361. 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 »
    1362. Dyggve-Melchior-Clausen Syndrome
     A rare genetic bone growth disorder characterized by short stature and other skeletal deformities....more »
    1363. 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 »
    1364. Dyschondrosteosis -- nephritis
     A very rare syndrome characterized mainly by abnormal bone development and kidney disease....more »
    1365. Dysequilibrium syndrome
     A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination....more »
    1366. 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 »
    1367. Dysgerminoma
     A rare form of cancer of the germ cells in the ovary. It is generally asymptomatic in the early stages. Prognosis with treatment is generally quite good....more »
    1368. 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 »
    1369. Dysharmonic skeletal maturation -- muscular fiber disproportion
     A very rare syndrome characterized mainly by abnormal bone development and muscle problems....more »
    1370. Dyskeratosis Congenita
     A rare genetic disorder characterized by sking pigmentation abnormalities, nail dystrophy and mucous membrane changes....more »
    1371. Dysmorphism -- abnormal vocalization -- mental retardation
     A very rare syndrome characterized mainly by mental retardation, facial abnormalities and an abnormal voice....more »
    1372. Dysmorphism -- cleft palate -- loose skin
     A very rare syndrome characterized mainly by facial abnormalities, an opening in the roof of the mouth and loose skin....more »
    1373. 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 »
    1374. 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 »
    1375. 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 »
    1376. Dysostosis peripheral
     A rare condition characterized by malformed bones in the hands and feet. The severity of the malformation is variable....more »
    1377. Dysplastic cortical hyperostosis
     A very rare syndrome characterized mainly by abnormal bone and brain development....more »
    1378. Dysraphism -- cleft lip palate -- limb reduction defects
     A very rare syndrome characterized mainly by an abnormal opening in the lip and palate, forearm abnormalities, spinal cord defects and an abnormal abdominal opening allowing the abdominal contents to protrude....more »
    1379. 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 »
    1380. Dysspondyloenchondromatosis
     A rare disorder characterized by skeletal abnormalities and short stature....more »
    1381. Dysthymia
     Mild form of depression...more »
    1382. EDS V
     A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility....more »
    1383. 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 »
    1384. 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 »
    1385. East African Trypanosomiasis
     East African sleeping sickness from the tsetse fly...more »
    1386. East Syndrome
     A rare syndrome characterized mainly by mental retardation, deafness, ataxia and electrolyte imbalance....more »
    1387. Eating disorders
     Various mental disorders impairing normal eating or appetite....more »
    1388. 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 »
    1389. Ectodermal dysplasia -- alopecia -- preaxial polydactyly
     A rare syndrome characterized by facial abnormalities, extra toes and sparse or absent hair....more »
    1390. Ectodermal dysplasia -- arthrogryposis -- diabetes mellitus
     A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities....more »
    1391. Ectodermal dysplasia -- blindness
     A rare syndrome characterized mainly be mental retardation, vision loss, short stature and teeth and hair abnormalities....more »
    1392. 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 »
    1393. 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 »
    1394. 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 »
    1395. Ectodermal dysplasia -- neurosensory deafness
     A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis....more »
    1396. 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 »
    1397. Ectodermal dysplasia mental retardation syndactyly
     A rare syndrome characterized by mental retardation, webbed fingers and hair, nail and teeth abnormalities....more »
    1398. 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 »
    1399. 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 »
    1400. 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 »
    1401. Ectopia lentis, isolated
     A rare syndrome characterized by dislocation of eye lenses which often occurred at birth....more »
    1402. Ectopic acromegaly
     Ectopic acromegaly is a rare syndrome (less than 1% of acromegalic patients) caused by ectopic growth hormone-releasing hormone (GHRH) or growth hormone (GH)-producing tumors....more »
    1403. Ectopic pregnancy
     A condition where a fertilized egg embeds itself outside the uterus....more »
    1404. 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 »
    1405. Edinburgh malformation syndrome
     A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities....more »
    1406. 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 »
    1407. 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 »
    1408. 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 »
    1409. Ehlers-Danlos syndrome
     A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group....more »
    1410. Ehlers-Danlos syndrome Type I
     A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing....more »
    1411. 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 »
    1412. 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 »
    1413. Ehlers-Danlos syndrome type V
     A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility....more »
    1414. 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 »
    1415. Ehlers-Danlos syndrome type VII
     A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and joint dislocations....more »
    1416. 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 »
    1417. 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 »
    1418. 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 »
    1419. Ehlers-Danlos syndrome, Beasley Cohen type
     A rare condition where mental retardation, deafness and cataracts are associated with a connective tissue disorder called Ehlers-Danlos syndrome....more »
    1420. Ehlers-Danlos syndrome, VIIB
     A rare genetic connective tissue disorder characterized by hyperextensible and fragile skin and hypermobile joints which leads to dislocations, osteoarthritis and fractures. Type 7B is milder than type 7A and is caused by a defect on the COL1A2 gene....more »
    1421. 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 »
    1422. 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 »
    1423. 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 »
    1424. 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 »
    1425. 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 »
    1426. 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 »
    1427. 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 »
    1428. Ehlers-Danlos syndrome, progeroid form 2
     A rare genetic connective tissue disorder characterized by hypermobile joints, fragile skin, mental retardation and short stature....more »
    1429. Ehlers-Danlos syndrome, tenascin-X deficiency
     A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility....more »
    1430. 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 »
    1431. Ehrlichiosis
     Bacterial tick-borne disease...more »
    1432. Eikenella corrodens infection
     A type of anaerobic bacterial infection. The bacterium (Eikenella corrodens) is normally found in tooth plaque and can cause infection in various parts of the body. It tends to occur in patients with head and neck cancers or diabetics and drug users who l...more »
    1433. Elbow Arthritis
     Inflammation of the elbow joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    1434. Elbow Osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the elbow joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all...more »
    1435. Elbow conditions
     Conditions that affect the elbow...more »
    1436. Elbow injury
     An injury that affects the elbow...more »
    1437. Elbow sprain
     Damage to ligaments in the elbow....more »
    1438. Electrical burns
     Burns caused when an electric current pass through the body or part of it. The symptoms and severity of the burn depends on the strength of the electrical current, the duration of the exposure and the part of the body involved. Prompt treatment in more se...more »
    1439. Elejalde syndrome
     A rare congenital syndrome characterized excessive fetal growth, skull abnormalities, extra fingers or toes and other abnormalities....more »
    1440. Elephant man in context of NF
     A rare disorder where a limb becomes enlarged due to neurofibromatosis of the skin and the tissue under it. Neurofibromatosis is a disorder involving the development of benign nerve and skin tumors. When large areas of nerves are affected in one limb then...more »
    1441. Ellis-van Creveld syndrome
    1442. 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 »
    1443. Emerinopathy
     A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting....more »
    1444. Emery-Dreifuss muscular dystrophy, X-linked
     A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms....more »
    1445. Emery-Nelson syndrome
     A rare condition characterized by a flat face and hand and foot abnormalities....more »
    1446. Empty Sella Syndrome
     Congenital defect of the brain....more »
    1447. Encephalo cranio cutaneous lipomatosis
     A rare genetic disorder characterized by craniofacial lipomas, cerebral atrophy and patches of alopecia....more »
    1448. Encephaloceles
     Improper protrusions of parts of the meninges and brain....more »
    1449. 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 »
    1450. Enchondromatosis (benign)
     Benign cartilage growths that develop inside bones....more »
    1451. Enchondromatosis-dwarfism-deafness
     A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development....more »
    1452. 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 »
    1453. Endometrial Cancer
     Cancer of the endometrium (uterus lining)....more »
    1454. Endometrial conditions
     Conditions that affect the female endometrium that is located in the uterus...more »
    1455. Endometrial stromal sarcoma
     A rare type of cancer that develops from the endometrial layer of the uterus. The cancer may be slow-growing or aggressive and may metastasize....more »
    1456. Endometriosis
     Misplaced uterus tissue causing scar tissue....more »
    1457. Endomyocardial fibroelastosis
     A rare heart malformation involving an abnormal thickening of the part of the heart muscle called the endocardium which affects the heart's function. Death is common in infancy and during early childhood....more »
    1458. Eng Strom syndrome
     A rare syndrome characterized by short stature and episodes of locked finger joints....more »
    1459. Engelhard-Yatziv syndrome
     A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities....more »
    1460. Eosinophilia-myalgia syndrome
     A rare condition that occurs in some people who take the antidepressant L-tryptophan....more »
    1461. Eosinophilic synovitis
     Inflammation of the lining of joints due to the presence of excessive eosinophils. Eosinophils can build up in parts of the body as a response to a variety of conditions such as allergy, parasitic infections and rheumatoid arthritis....more »
    1462. Ependymoma
     A tumor that occurs in the central nervous system (brain and spinal cord). Symptoms vary according to the aggressiveness, size and exact location of the tumor....more »
    1463. Epicondylitis
     Elbow injury from repeated movements....more »
    1464. 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 »
    1465. Epidermoid carcinoma
     A non-small-cell type of lung cancer. The cancer develops from cells that line the inside of the lungs....more »
    1466. Epiglotitis
     Inflamation of the epiglottis in the throat...more »
    1467. Epilepsy -- microcephaly -- skeletal dysplasia
     A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities....more »
    1468. Epilepsy -- telangiectasia
     A rare syndrome characterized by the association of epilepsy with telangiectasias on the conjunctiva of the eyelids....more »
    1469. 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 »
    1470. Epimetaphyseal skeletal dysplasia
     A rare syndrome characterized mainly by abnormal bone development....more »
    1471. Epiphyseal dysplasia -- hearing loss -- dysmorphism
     A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....more »
    1472. Epiphyseal dysplasia dysmorphism camptodactyly
     A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities....more »
    1473. 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 »
    1474. 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 »
    1475. 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 »
    1476. Epiphyseal dysplasia, multiple, 3
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. The knees and ankles are usually the most affected joints. Mild weakness of muscles in the upper arms and legs was also sometimes present. It is ...more »
    1477. Epiphyseal dysplasia, multiple, 4
     An inherited bone and cartilage disorder which is usually mild enough to go undiagnosed....more »
    1478. Epiphyseal dysplasia, multiple, 5
     Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. The hips and knees were the main joints involved. It is caused by defects in the gene for matrilin-3 (MATN3)....more »
    1479. Epiphyseal stippling syndrome -- osteoclastic hyperplasia
     A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine....more »
    1480. Epstein Barr virus related fibromyalgia
     Epstein Barr virus related fibromyalgia refers to fibromyalgia that is associated with infection with the Epstein Barr virus. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the...more »
    1481. Erdheim disease II
     A rare condition that occurs as a result of acromegaly which is where excessive growth hormone production results in gigantism. Symptoms include overgrowth of cartilage in parts of the spine and collar bone which causes kyphosis, pain and restricted movem...more »
    1482. Erdheim-Chester Disease
     A condition which is defined as a non langerhans cell histiocytosis...more »
    1483. Erdheim-Chester syndrome
     A very rare lipid storage disorder involving lipid deposits in various organs and hardening of the ends of long bones which affects the growth of the bone. The severity of the condition is variable....more »
    1484. 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 »
    1485. Erythema multiforme
     An allergic inflammatory skin disorder which has a variety of causes and results in skin and mucous membrane lesions that affect mainly the hands, forearms, feet, mouth nose and genitals....more »
    1486. Erythema nodosum
     Allergic skin condition usually on the legs...more »
    1487. 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 »
    1488. Escharonodulaire
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    1489. Escher-Hirt syndrome
     A very rare syndrome characterized by thick earlobes and conductive deafness due to an inner ear structure abnormality. The deafness is non-progressive and occurs at birth....more »
    1490. Escobar syndrome, type B
     A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine....more »
    1491. Esophagus Cancer
     Cancer of the esophagus in the throat....more »
    1492. Essential mixed cryoglobulinemia
     A rare autoimmune disorder characterized by the presence of a mixture of various types of antibodies (crylglobulins) in the blood....more »
    1493. 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 »
    1494. 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 »
    1495. 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 »
    1496. Ewing's family of tumors
     A rare condition where tumors develop in bone or soft tissue. Usually teenagers are affected....more »
    1497. Ewing's sarcoma
     Ewing's sarcoma is a malignant round-cell tumor. It is a rare disease in which cancer cells are found in the bone or in soft tissue. The most common areas in which it occurs are the pelvis, the femur, the humerus, and the ribs....more »
    1498. Excessive dieting
     Excessive limitation of food intake can lead to problems and effects such as dizziness, depression, intestinal problems, edema and impaired growth....more »
    1499. Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
     A rare syndrome characterized mainly by anemia, pancreatic dysfunction and abnormal skull calcification....more »
    1500. Exostoses
     Development of non-cancerous bony growths on bones. Pain can result depending on the size and location of the growth....more »
    1501. Exostoses -- anetodermia -- brachydactyly type E
     A rare syndrome characterized mainly by bone growths, a skin disorder and short foot bones....more »
    1502. 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 »
    1503. 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 »
    1504. Exostoses, multiple, type 2
     Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I....more »
    1505. Exostoses, multiple, type 3
     Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I....more »
    1506. Extrasystoles -- short stature -- hyperpigmentation -- microcephaly
     A rare syndrome characterized mainly by shortness, increased skin pigmentation, small head and...more »
    1507. Eye defects -- arachnodactyly -- cardiopathy
     A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease....more »
    1508. FACES syndrome
     A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities....more »
    1509. FG Syndrome
     A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead....more »
    1510. 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 »
    1511. 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 »
    1512. 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 »
    1513. 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 »
    1514. 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 »
    1515. Facial asymmetry -- temporal seizures
     A rare condition characterized mainly by seizures that originate from the temporal lobe of the brain as well as facial asymmetry....more »
    1516. 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 »
    1517. Facial dysmorphism -- shawl scrotum -- joint laxity syndrome
     A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum....more »
    1518. Facies unusual arthrogryposis advanced skeletal malformations
     A very rare fatal malformation characterized by an unusual facial appearance, arthrogryposis, advanced bone age of the hips and abnormal X-rays of the skeleton....more »
    1519. Facio-auriculo-radial dysplasia
     A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm....more »
    1520. Facio-cardio-musculo-skeletal syndrome
     A rare syndrome characterized by facial, heart, muscle and skeletal abnormalities....more »
    1521. Faciocardiomelic Syndrome
     A syndrome reported in a family and characterized by various anomalies including mental retardation and bone abnoramlities....more »
    1522. Faciocardiorenal syndrome
     A rare syndrome characterized by a variety of abnormalities such as kidney anomaly, mental retardation, unusual facial features, heart problems and joint problems. Infant death or stillbirth may occur in some cases....more »
    1523. Faciodigitogenital syndrome, recessive form
     A rare syndrome characterized by facial, digital and genital abnormalities....more »
    1524. Faciooculoacousticorenal syndrome
     A very rare syndrome characterized by facial, eye, ear and kidney abnormalities....more »
    1525. Facioskeletalgenital syndrome, Rippberger type
     A rare syndrome characterized by facial, skeletal and genital abnormalities....more »
    1526. Faciothoracogenital syndrome
     A rare syndrome characterized by facial, chest and genital abnormalities....more »
    1527. Factor 8 deficiency, congenital
     A rare blood disorder where a deficiency of a blood coagulation protein called Factor VIII is partially or completely absent. The severity of the bleeding is variable depending on the level of deficiency....more »
    1528. Factor V and factor VIII, combined deficiency of
     A rare inherited blood disorder where a deficiency of Factor V and factor VIII results in bleeding problems. Factor V and factor VIII is involved in blood coagulation....more »
    1529. Factor VII deficiency
     A rare inherited blood disorder caused by a deficiency of a blood protein called Factor VII and resulting in poor blood coagulation. The severity of the condition is variable....more »
    1530. Factor X deficiency
     A rare blood clotting disorder which may be inherited or acquired in people suffering from conditions such as liver disease, amyloidosis, leprosy and certain cancers. The underlying cause is the deficiency of a protein (Factor X) which is needed for the b...more »
    1531. Factor X deficiency -- Friuli
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Fruili variant tends to only cause moderate bleeding problems and occurs mainly in an area of Italy called Fru...more »
    1532. Factor X deficiency -- Kanazawa
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Kanazawa variant results in reduced Factor X blood clotting activity....more »
    1533. Factor X deficiency -- Ketchikan
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Ketchikan variant results in reduced Factor X blood clotting activity....more »
    1534. Factor X deficiency -- Nottingham
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Nottingham variant results in reduced Factor X blood clotting activity....more »
    1535. Factor X deficiency -- Padua
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Padau variant results in reduced Factor X blood clotting activity....more »
    1536. Factor X deficiency -- San Antonio
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The San Antonia variant results in 14% of normal Factor X blood clotting activity....more »
    1537. Factor X deficiency -- Santo Domingo
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Santo Domingo variant results in reduced Factor X blood clotting activity....more »
    1538. Factor X deficiency -- Shanghai
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Shangai variant results in reduced Factor X blood clotting activity....more »
    1539. Factor X deficiency -- St. Louis II
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The St. Louis II variant results in reduced Factor X blood clotting activity....more »
    1540. Factor X deficiency -- Stockton
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Stockton variant results in reduced Factor X blood clotting activity....more »
    1541. Factor X deficiency -- Taunton
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Taunton variant results in reduced Factor X blood clotting activity....more »
    1542. Factor X deficiency -- Tokyo
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Tokyo variant results in reduced Factor X blood clotting activity....more »
    1543. Factor X deficiency -- Vorarlberg
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Vorarlberg variant results in reduced Factor X blood clotting activity....more »
    1544. Factor X deficiency -- Wenatchee I
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Wenatchee I variant results in reduced Factor X blood clotting activity....more »
    1545. Factor X deficiency -- Wenatchee II
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Wenatchee II variant results in reduced Factor X blood clotting activity....more »
    1546. Factor X deficiency -- autosomal dominant
     A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The autosomal dominant variant results in reduced Factor X blood clotting activity....more »
    1547. Failure To Thrive
     Slow growth or inadequate weight gain of an infant or child....more »
    1548. 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 »
    1549. Fallopian tube conditions
     Conditions that affect the fallopian tubes of a woman...more »
    1550. Falls
     When a person losses balance and falls over...more »
    1551. Familial Cold Autoinflammatory Syndrome (FCAS)
     An inherited inflammatory disorder which causes periods of fever, rash and pain in joints after being exposed to cold conditions. Symptoms last less than a day and start within hours of exposure to the cold....more »
    1552. Familial Granulomatosis, Blau type
     A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions....more »
    1553. Familial Mediterranean fever
     A rare inherited condition characterized by recurrent fever and inflammation. The inflammation usually involves the stomach, lungs or joints....more »
    1554. Familial Treacher Collins syndrome
     Treacher Collins syndrome is a rare inherited disorder characterized by down-slanting eye slits, malformed external ear, abnormal lower eyelid and underdeveloped cheeks. In the familial form, the condition tends to occur in a number of people within a fam...more »
    1555. Familial hypertryptophanemia
     A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood. The disorder tends to run in families (familial)....more »
    1556. 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 »
    1557. Familial patella aplasia-hypoplasia
     A rare inherited malformation where the kneecap is absent or underdeveloped....more »
    1558. Familial, Systemic, Juvenile Granulomatosis
     A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions....more »
    1559. Fanconi like syndrome
     A rare condition characterized by a poor immune system, skin tumors and a reduced number of all type of blood cells....more »
    1560. Fanconi pancytopenia
     A rare genetic disorder characterized by upper limb defects and kidney abnormalities....more »
    1561. Fanconi renotubular syndrome
     A condition where the kidneys are unable to reabsorb glucose and amino acids and hence they are excreted in the urine. The condition may be inherited or occur as a result of heavy metal toxicity, malignancy and myeloma....more »
    1562. Fanconi's syndrome
    1563. Fanconi-Albertini-Zellweger syndrome
     A rare syndrome characterized mainly by congenital heart defect, brain abnormalities, unusual face and metabolic acidosis....more »
    1564. 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 »
    1565. Fara-Chlupackova syndrome
     A rare syndrome characterized mainly by ear, face and neck abnormalities....more »
    1566. Farber's disease
     A rare inherited biochemical disorder involving the deficiency of an enzyme called ceramidase resulting in the harmful accumulation of certain chemicals in the body which causes damage and inflammation....more »
    1567. Fascioliasis
     A rare parastitic infectious disease caused by liver fluke Fasciola hepatica which can cause blockage of the bile ducts in the liver....more »
    1568. 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 »
    1569. Fechtner syndrome
     A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes....more »
    1570. Felty Syndrome
     A rare complication of long-term rheumatoid arthritis which involves an enlarged spleen and blood abnormalities....more »
    1571. Female genital disorders
     Any condition affecting the female genital organs....more »
    1572. Female genital organ tumors
     Tumors affecting the female genital organs, whether cancerous or bening....more »
    1573. Female sexual conditions
     Sexual conditions that affect the female...more »
    1574. Femoral facial syndrome
     A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate....more »
    1575. Femur bifid with monodactylous ectrodactyly
     A rare condition characterized by a thigh bone split into two and missing fingers resulting in a lobster-claw shaped hand (ectrodactyly)....more »
    1576. 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 »
    1577. Fenton-Wilkinson-Toselano syndrome
     A rare syndrome characterized mainly by ataxia, light sensitivity and short stature....more »
    1578. Fernhoff-Blackston-Oakley syndrome
     A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities....more »
    1579. Fetal Hydantoin Syndrome
     A rare disorder caused by fetal exposure to phenytoin (anticonvulsant drug) and resulting in various abnormalities....more »
    1580. Fetal aminopterin syndrome
     A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate....more »
    1581. Fetal methylmercury syndrome
     Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta....more »
    1582. 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 »
    1583. 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 »
    1584. Fetal warfarin syndrome
     A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities....more »
    1585. Fibrochondrogenesis
     A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death....more »
    1586. Fibromatosis gingival -- hypertrichosis
     A rare disorder characterized by excessive growth of body hair and enlarged gums....more »
    1587. Fibromatosis multiple non ossifying
     A very rare syndrome characterized mainly by bone abnormalities which causes the bones to fracture easily....more »
    1588. Fibromyalgia
     A difficult to diagnose condition affecting the muscles and/or joints...more »
    1589. 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 »
    1590. Fibrous Dysplasia
     A rare condition where fibrous tissues develops instead of normal bone tissue. One or more bones may be affected and bones in the legs, head and chest are the usual ones affected....more »
    1591. Fibrous dysplasia of bone
     A bone development abnormality that can occur in one or more bones. The bone develops tumor-like growths in bones where normal bone is replaced by fibrous tissue. It can occur as a single lesion or in multiples. Malignancy can occur but is rare. Symptoms ...more »
    1592. Fibula aplasia complex -- brachydactyly
     A very rare syndrome characterized mainly by short fingers small or absent fibula (calf bone) and other bone abnormalities....more »
    1593. Fibular aplasia -- ectrodactyly
     A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet....more »
    1594. Fibular dimelia -- diplopodia
     A birth malformation characterized by the absence of the tibia and partial duplication of the foot. The partial duplication of the foot means that one foot can have as many as nine toes. Usually only one foot is affected....more »
    1595. Fibular hypoplasia or aplasia -- femoral bowing -- oligodactyly
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    1596. 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 »
    1597. Fine-Lubinsky syndrome
     A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation....more »
    1598. Finger Arthritis
     Inflammation of the finger joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    1599. Finger osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the finger joints as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in a...more »
    1600. Fitz-Hugh-Curtis syndrome
     A rare condition where the thin layer around the liver becomes infected as a result of a spread of infection from gonococcal or chlamydial infections in females....more »
    1601. Fitzsimmons-Guilbert syndrome
     A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly....more »
    1602. Fitzsimmons-McLachlan-Gilbert syndrome
     A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles....more »
    1603. Fitzsimmons-Walson-Mellor syndrome
     A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness....more »
    1604. Flat feet
     Lowered arch of the foot...more »
    1605. Flavivirus Infections
     Infection with a virus from the Flaviviridae family of viruses. Infections by these pathogens include Dengue fever, Rocio encephalitis, West Nile virus and Japanese encephalitis. Transmission usually occurs through the bite of a mosquito....more »
    1606. Fleisher syndrome
     A rare inherited condition characterized by a deficiency of growth hormones and reduced blood levels of antibodies in the blood....more »
    1607. Floating Harbor Syndrome
     A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay....more »
    1608. Flu
     Very common viral respiratory infection....more »
    1609. Flu-like conditions
     Medical conditions similar to flu, or exhibition flu-like symptoms....more »
    1610. Fluconazole -- Teratogenic Agent
     There is evidence to indicate that exposure to Fluconazole (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 by...more »
    1611. 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 »
    1612. 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 »
    1613. Flynn-Aird syndrome
     A rare inherited disorder where neurological degeneration causes symptoms such as dementia, ataxia, eye problems, skin disorders and muscle wasting....more »
    1614. 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 »
    1615. Folate deficiency
    1616. Food Additive Adverse reaction -- MSG
     An intolerance to MSG is an adverse reaction (not an immune response) by the body to a food additive called MSG which is used in a number of foods. The adverse reaction results from the body's inability to metabolize or deal with the food additive. The am...more »
    1617. Food Additive Adverse reaction -- amines
     An intolerance to amines is an adverse reaction (not an immune response) by the body to amines which are found naturally in foods such as bananas, pineapples, vegetables, red wine, citrus fruit and many other foods. The adverse reaction results from the b...more »
    1618. Food Additive Adverse reaction -- food additives
     An intolerance to food additives is an adverse reaction (not an immune response) by the body to food additives. The adverse reaction results from the body's inability to metabolize or deal with the food additive. The amount of the substance required to tr...more »
    1619. Food Additive Adverse reaction -- salicylate
     An intolerance to salicylates is an adverse reaction (not an immune response) by the body to salicylates which is an ingredient in aspirin but is also found naturally in various fruit, vegetables, herbs and spices. The adverse reaction results from the bo...more »
    1620. Food Additive Adverse reaction -- sulfite
     An intolerance to sulfites is an adverse reaction (not an immune response) by the body to sulfites which is often used as a preservative in a variety of foods and medications including meats, salads and dried fruits. The adverse reaction results from the ...more »
    1621. Food Allergy -- beef
     A beef allergy is an adverse reaction by the body's immune system to beef. This type of allergy is rare and severe reactions are even rarer. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with t...more »
    1622. Food Allergy -- buckwheat
     A buckwheat allergy is an adverse reaction by the body's immune system to buckwheat. This type of allergy is rare and severe reactions are even rarer. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to cont...more »
    1623. Food Allergy -- chicken meat
     A chicken meat allergy is an adverse reaction by the body's immune system to chicken meat. This type of allergy is rare and severe reactions are even rarer. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response t...more »
    1624. Food Allergy -- duck meat
     A duck meat allergy is an adverse reaction by the body's immune system to duck meat. This type of allergy is rare and severe reactions are even rarer. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to cont...more »
    1625. Food Allergy -- goose meat
     A goose meat allergy is an adverse reaction by the body's immune system to goose meat. This type of allergy is rare and severe reactions are even rarer. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to co...more »
    1626. Food Allergy -- lamb
     A lamb allergy is an adverse reaction by the body's immune system to lamb meat. This type of allergy is rare and severe reactions are even rarer. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact w...more »
    1627. Food Allergy -- meat
     A meat allergy is an adverse reaction by the body's immune system to meat. This type of allergy is rare and severe reactions are even rarer. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with t...more »
    1628. Food Allergy -- pork
     A pork allergy is an adverse reaction by the body's immune system to meat. This type of allergy is rare and severe reactions are even rarer. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contact with t...more »
    1629. Food Allergy -- red meat
     A red meat allergy is an adverse reaction by the body's immune system to red meat. This type of allergy is rare and severe reactions are even rarer. The body's immune system produces immunoglobulin E (IgE - an antibody) and histamine in response to contac...more »
    1630. Food poisoning
     Poisoning from a substance or microbe in food....more »
    1631. 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 »
    1632. Forestier's disease
     A rare disorder involving by bony growths that can occur various parts of the skeleton....more »
    1633. Forney Robinson Pascoe syndrome
     A rare condition characterized by skeletal abnormalities, deafness and mitral regurgitation....more »
    1634. Fowler-Christmas-Chapple syndrome
     A rare syndrome characterized by the association of polycystic ovaries with the abnormal functioning of the urinary valve....more »
    1635. Fractured Lower Leg
     A fracture to one of the bones of the lower leg...more »
    1636. Fragile-X Syndrome
     A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females....more »
    1637. 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 »
    1638. Franceschini-Vardeu-Guala syndrome
     A very rare disorder characterized by premature puberty, lower lip pits and Kabuki syndrome. Kabuki syndrome is a mental retardation syndrome which also involves a range of physical abnormalities....more »
    1639. Francois dyscephalic syndrome
     A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis....more »
    1640. Frank-Ter Haar syndrome
     A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities....more »
    1641. Fraser Syndrome
     A rare disorder characterized by the absence of one or both eyes as well as any of a number of other possible congenital abnormalities. Up to half of cases are stillborn....more »
    1642. 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 »
    1643. Fraser-like syndrome
     A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities....more »
    1644. Frias syndrome
     A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies....more »
    1645. Fried syndrome
     A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner....more »
    1646. Fried-Goldberg-Mundel syndrome
     A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males....more »
    1647. Friedreich ataxia
     A progressive inherited neuromuscular disorder involving slow degeneration of the spinal cord and brain....more »
    1648. Friedreich ataxia -- congenital glaucoma
     A rare disorder characterized by glaucoma at birth and a progressive neuromuscular disorder....more »
    1649. 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 »
    1650. 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 »
    1651. Frontometaphyseal dysplasia
     A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles....more »
    1652. Frontonasal dysplasia
     A very rare disorder involving head and face abnormalities primarily due to a groove down the midline of the face which may affect parts or all of the face....more »
    1653. Frontonasal dysplasia -- Klippel Feil syndrome
     A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck (Klippel Feil syndrome) as well as larynx and voice box abnormalities....more »
    1654. Froster-Iskenius-Waterson syndrome
     A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles....more »
    1655. Fryns macrocephaly
     A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance....more »
    1656. Fryns-Aftimos syndrome
     A rare syndrome characterized mainly by abnormal brain development, epilepsy, mental retardation and unusual facial appearance....more »
    1657. 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 »
    1658. Fryns-Hofkens-Fabry syndrome
     A very rare syndrome characterized underdeveloped forearm bones....more »
    1659. Fryns-Smeets-Thiry syndrome
     A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities....more »
    1660. Fucosidosis
     A rare progressive 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....more »
    1661. 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 »
    1662. 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 »
    1663. Fuhrmann syndrome
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    1664. Fuhrmann-Rieger-de Sousa syndrome
     A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone)....more »
    1665. Fukuda-Miyanomae-Nakata syndrome
     A rare syndrome characterized mainly tooth, bone and nail abnormalities as well as anal and urethral anomalies....more »
    1666. 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 »
    1667. Fungemia
     The presence of fungi in the blood. Most commonly occurs in people with a compromised immune system. Other risk factors include dialysis, burns, diabetes and use of broad-spectrum antibiotics and steroids. The severity of symptoms is variable....more »
    1668. Furlong-Kurczynski-Hennessy syndrome
     A very rare syndrome characterized by the association of premature fusion of skull bones with Marfanoid features. The disorder arises from abnormal connective tissue....more »
    1669. GEMSS syndrome
     A rare syndrome characterized mainly by stiff joints, short stature, glaucoma and a dislocated eye lens....more »
    1670. 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 »
    1671. Galactorrhoea-Hyperprolactinaemia
     Increased blood prolactin levels associated with galactorrhea (abnormal milk secretion). It may be caused by such things as certain medications, pituitary disorders and thyroid disorders. The condition can occur in males as well as females....more »
    1672. 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 »
    1673. 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 »
    1674. 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 »
    1675. Gardner-Morrisson-Abbot syndrome
     A rare syndrome characterized by thrombocytopenia and various other abnormalities present at birth....more »
    1676. 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 »
    1677. Gaucher Disease
     A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3....more »
    1678. 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 »
    1679. Gaucher disease type 1
     A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 1 is the visceral, chronic ...more »
    1680. Gaucher disease type 2
     A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 2 is acute neurological for...more »
    1681. Gaucher disease type 3
     A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 3 is a subacute neurologica...more »
    1682. Gaucher-like disease
     A very rare inherited condition where the body's inability to bread down a certain fat (glucocerebroside) causes it to accumulate in body tissues and organs where it can cause damage. Gaucher-like disease is a sub-type of Gaucher disease which primarily a...more »
    1683. 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 »
    1684. Geleophysic dwarfism
     A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities....more »
    1685. Gelineau's syndrome
     A neurological disorder sudden uncontrollable urge to sleep, sleep paralysis and other symptoms....more »
    1686. 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 »
    1687. Genoa syndrome
     A rare disorder characterized mainly by premature fusion of skull bones and partial separation of the two brain halves....more »
    1688. Genochondromatosis
     A rare condition characterized by the formation of multiple bone lesions called chondromas in long tubular bones. A chondroma is a benign cartilage growth. The lesions tend to develop in bones such as the upper arm bone (upper end), thigh bone (lower end)...more »
    1689. Genochondromatosis II
     A rare condition characterized by the formation of multiple bone lesions called chondromas. A chondroma is a benign cartilage growth. In type II, the lesions tend to occur in the short tubular bones and the collarbones aren't involved. The condition is us...more »
    1690. Genu valgum, St Helena familial
     A severe inherited form of knock-knees....more »
    1691. Genu varum
     The presence of bowed legs - knees are apart and ankles are together while standing. Causes of the anomaly include certain intrauterine positions, rickets and various bone disorders....more »
    1692. German syndrome
     A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities....more »
    1693. 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 »
    1694. 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 »
    1695. 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 »
    1696. Ghosal syndrome
     A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities....more »
    1697. Giacheti Syndrome
     A rare syndrome characterized by learning disabilities, language problems and an unusual physical appearance involving tall stature and long hands and feet....more »
    1698. Gigantism
     A rare endocrine disorder where excess growth hormone is produced prior to puberty....more »
    1699. 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 »
    1700. Gingival fibromatosis -- facial dysmorphism
     A rare syndrome characterized by the association of thickened gums with unusual facial appearance....more »
    1701. 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 »
    1702. 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 »
    1703. Glassy cell carcinoma of the cervix
     A rare type of cervical cancer....more »
    1704. 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 »
    1705. Glioblastoma
     An aggressive primary brain tumour of the glial (supporting) cells....more »
    1706. Gliomatosis cerebri
     A rare, aggressive type of malignant brain tumor. Cancerous glial cells infiltrate various parts of the brain and can result in a variety of symptoms....more »
    1707. Global developmental delay -- osteopenia -- ectodermal defect
     A rare syndrome characterized by developmental delay, osteopenia and skin anomalies....more »
    1708. Glomerulonephritis -- sparse hair -- telangiectases
     A rare syndrome characterized by sparse hair, kidney disease and enlarged skin blood vessels (telangiectasia)....more »
    1709. 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 »
    1710. Glossopalatine Ankylosis -- Hypoglossia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type III B involves mainly an abnormal band of tissue connecting the tongue to the hard palate or upper alveolar ridge....more »
    1711. Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type III C involves mainly an abnormal band of tissue connecting the tongue to the hard palate or upper alveolar ridge....more »
    1712. Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylomelia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type III E involves mainly an abnormal band of tissue connecting the tongue to the hard palate or upper alveolar ridge....more »
    1713. Glossopalatine Ankylosis -- Hypoglossia -- Hypomelia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type III D involves mainly an abnormal band of tissue connecting the tongue to the hard palate or upper alveolar ridge....more »
    1714. 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 »
    1715. 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 »
    1716. Glycogen Storage Disease Type I
     An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys. Most problems tend to develop during adulthood....more »
    1717. 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 »
    1718. 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 »
    1719. Glycogen storage disease type 2
     A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down....more »
    1720. Glycogenosis type 2
     A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable ...more »
    1721. Gms syndrome
     A rare syndrome characterized by mental retardation, short stature and an eye abnormality....more »
    1722. Gnathodiaphyseal dysplasia
     A rare genetic disorder affecting the skeleton and characterized by fragile bones, bowed long bones and recurring infections of the jaw bone....more »
    1723. Goldberg syndrome
     A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infanti...more »
    1724. 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 »
    1725. Goldblatt-Wallis syndrome
     A very rare syndrome characterized by mental retardation and an abnormally placed urethral opening in males....more »
    1726. Golden-Lakin syndrome
     A rare syndrome characterized by a webbed neck, sunken chest, curved spine and various other abnormalities....more »
    1727. Goldenhar disease
     A rare disorder characterized by numerous, often asymmetric, defects involving the face, ear, mouth and vertebrae....more »
    1728. Golfer's elbow
     Elbow and forearm disorder from repeated motions...more »
    1729. Gollop syndrome
     A rare syndrome characterized mainly by eye, ear, facial and nasal abnormalities....more »
    1730. 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 »
    1731. Gonadal dysgenesis
     The abnormal development of gonads which means that the sex hormones are not being produced. The gonads are the primary reproductive organs - testes in males and ovaries in females. These organs produced sperm and eggs as well as sex hormones - testes pro...more »
    1732. Gonadal dysgenesis XY type associated anomalies
     A very rare syndrome characterized mainly by a large range of variable physical abnormalities and gonad anoamlies....more »
    1733. Gonionemus poisoning
     Gonionemus is a type of hydrozoan jellyfish which can deliver a venomous sting. The sting can cause various combinations of skin, respiratory and joint and pain symptoms. In mild cases, only the skin is affected. Stings most often occur in the Northern he...more »
    1734. Gonorrhea
     Common sexually transmitted disease often without symptoms....more »
    1735. Goodpasture syndrome
     A rare disease involving inflammation of membranes in the lung and kidneys....more »
    1736. Gorham's syndrome
     A very rare bone disorder involving bone loss which can occur in one or more bones....more »
    1737. Gorlin-Chaudhry-Moss Syndrome
     A very rare inherited condition involving various physical and mental abnormalities....more »
    1738. 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 »
    1739. Gout
     Painful joints, most commonly the big toe....more »
    1740. Gracile bone dysplasia
     An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities....more »
    1741. Gram's syndrome
     A postmenopausal syndrome involving high blood pressure, rheumatoid arthritis of the knee and the development of multiple lipomas....more »
    1742. 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 »
    1743. Grant syndrome
     A rare genetic condition characterized by short stature, skeletal abnormalities and blue sclerae....more »
    1744. Granuloma annulare
     A harmless skin disease characterized by raised, bumpy, ring-shaped skin lesions....more »
    1745. Graves Disease
     is an autoimmune disease characterized by hyperthyroidism due to circulating autoantibodies. Thyroid-stimulating immunoglobulins (TSIs) bind to and activate thyrotropin receptors, causing the thyroid gland to grow and the thyroid follicles to increase syn...more »
    1746. Greenberg dysplasia
     A very rare form of short-limbed dwarfism....more »
    1747. Greig Cephalopolysyndactyly Syndrome
     A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities....more »
    1748. 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 »
    1749. Grix-Blankenship-Peterson syndrome
     A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities....more »
    1750. 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 »
    1751. Group A Streptococcal Infections
     "Strep" bacteria responsible for strep throat, impetigo and some other strep conditions....more »
    1752. 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 »
    1753. 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 »
    1754. 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 »
    1755. Growth deficiency brachydactyly unusual facies
     A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies....more »
    1756. 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 »
    1757. 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 »
    1758. 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 »
    1759. Growth plate injuries
     Injury to the growing ends of young bones....more »
    1760. Growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma
     An inherited cancer syndrome involving kidney cancer, polyposis of the colon and a pituitary tumor....more »
    1761. 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 »
    1762. Guizar-Vasquez-Sanchez-Manzano syndrome
     A rare syndrome characterized by loose joints, chest deformity and unusual facial appearance....more »
    1763. Gurrieri-Sammito-Bellussi syndrome
     A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities....more »
    1764. Gynaecological conditions
     Any condition the affects the female reproductive organs...more »
    1765. H1N1 Flu
    1766. HARD syndrome
     A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities....more »
    1767. HEM dysplasia
     A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death....more »
    1768. Haferkamp syndrome
     A severe lymphatic malformation syndrome involving multiple hemangiomas and gradual spontaneous bone resorption. It is a severe generalized form of Gorham syndrome which is a lymphatic malformation syndrome involving the bone....more »
    1769. Halal Setton Wang syndrome
     A very rare syndrome characterized mainly by eye, teeth, nail and skin abnormalities....more »
    1770. Hall-Riggs mental retardation syndrome
     A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities....more »
    1771. Hamartomatous colorectal cancer
     The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomal-dominant pattern of inheritance and are characterized by hamartomatous polyps of the gastrointestinal tract....more »
    1772. Hand-Schuller-Christian Syndrome
     A group of blood disorder involving excess production of histiocytes (type of immune cell) throughout the body. Accumulation of histiocytes results in non-cancerous growths which can damage organs and other body tissues such as bones. Symptom vary hugely ...more »
    1773. Hanhart Syndrome
     An autosomal recessive disorder due to a deficiency in the body of the tyrosine amino transferase enzyme....more »
    1774. 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 »
    1775. Hanhart syndrome type III
     A rare genetic disorder characterized by hand and foot deformities, small jaw, small tongue, mental retardation and a cleft palate....more »
    1776. Hanhart syndrome type IV
     A rare disorder where a genetic error of amino acid metabolism results in thickened skin on palms and soles, skin lumps, mental retardation and finger, toe, eye, hair and teeth abnormalities....more »
    1777. Hapnes-Boman-Skeie syndrome
     A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally....more »
    1778. Hardikar syndrome
     A very rare disorder characterized by obstructive liver disease, cleft lip, cleft palate, eye and urogenital abnormalities....more »
    1779. Harper dwarfism
     A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome....more »
    1780. Harrod Doman Keele syndrome
     A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities....more »
    1781. Haspeslagh Fryns Muelenaere syndrome
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    1782. Heart defects -- limb shortening
     A very rare syndrome characterized mainly by short limbs and heart defects....more »
    1783. Heart-hand syndrome, Slovenian type
     A rare disorder characterized by heart and hand abnormalities....more »
    1784. Hemangiopericytoma
     A slow growing tumor that develops in deep soft tissues an tends to occur mainly in the abdomen (pelvic retroperitoneum specifically), hips, shoulders, upper arms and upper legs....more »
    1785. Hematochromatosis
     Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. It is the most common inherited liver disease in whites and the most common autosomal recessive genetic disorder....more »
    1786. Hemi 3 syndrome
     A very rare syndrome where parts of the body undergo excessive growth give the body an asymmetrical appearance....more »
    1787. Hemifacial microsomia macrodactyly
     A rare syndrome characterized by enlargement of some fingers as well as the underdevelopment of the lower half of one side of the face....more »
    1788. Hemihypertrophy in context of NF
     Enlargement of one side of the body that frequently occurs in sufferers of neurofibromatosis....more »
    1789. Hemochromatosis
     Excess of iron leading to problems with joints, liver, heart and pancreas....more »
    1790. Hemochromatosis type 1
     A genetic disorder where too much iron is absorbed from food and it is stored in various parts of the body which can cause damage. Type 1 is the most common form of the disorder, has an adult onset and is inherited recessively....more »
    1791. Hemochromatosis type 2
     A rare genetic disorder where too much iron is absorbed from food and it is stored in various parts of the body which can cause damage. Type 2 is a more severe type, has a juvenile onset and is inherited recessively....more »
    1792. Hemochromatosis type 3
     A rare genetic disorder where too much iron is absorbed from food and it is stored in various parts of the body which can cause damage. Type 3 has an onset that is between type 1 and type 2 and is inherited recessively....more »
    1793. Hemochromatosis type 4
     A rare genetic disorder where too much iron is absorbed from food and it is stored in various parts of the body which can cause damage. Type 4 has an adult onset but is inherited dominantly....more »
    1794. Hemochromatosis-related diabetes
     A single-gene disease that causes iron accumulation in the tissues of the body. Diabetes is a primary complication if hemochromatosis goes untreated. Hemochromatosis is sometimes referred to as "bronze diabetes."...more »
    1795. Hemoglobin C Thalassemia
     A rare genetic blood disorder that can cause mild hemolytic anemia but is asymptomatic in most patients. This condition is also known as Hemoglobin C Disease....more »
    1796. Hemoglobin S/hemoglobin Lepore, Boston
     A blood disorder that mainly causes hemolytic anemia with great variability of symptoms....more »
    1797. Hemoglobin S/hemoglobin O, Arab
     A genetic blood anomaly which causes severe hemolytic anemia, fever, pain, cramping and excessive bleeding....more »
    1798. Hemoglobin SC
     A genetic blood disorder where the patient inherits a gene for hemoglobin S from one parent and hemoglobin C from another. Severity of symptoms is variable....more »
    1799. Hemolytic anaemia, lethal -- genital anomalies
     A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death....more »
    1800. Hemolytic anemia, lethal -- genital anomalies
     A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death....more »
    1801. Hemophilia
     Blood disease usually genetic causing failure to clot....more »
    1802. Hemophilia B
     A rare coagulation disorder caused by a deficiency of factor IX which results in bleeding problems....more »
    1803. Hemophilic arthropathy
     Joint destruction associated with hemophilia. The knees, ankles, elbows, hip and shoulders are the most common joints involved. Symptoms are progressive and often surgical intervention is required to prevent total loss of joint function....more »
    1804. Hemophilus influenzae B
     Bacterial respiratory infection with dangerous complications....more »
    1805. Hemorragic fever with renal syndrome
     A group of infectious diseases that involve bleeding, fever and kidney problems. Examples of viruses that can cause such infectious diseases include Hantan virus, Puumala virus and Seoul virus. Examples of diseases caused by viruses in this group includes...more »
    1806. Henoch-Schonlein purpura
     A form of vasculitis (blood vessel inflammation) that affects blood capillaries and affects mostly the skin, kidneys, joints and stomach....more »
    1807. 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 »
    1808. Hepatitis
     Any type of liver inflammation or infection....more »
    1809. Herbal Agent overdose -- Reishi mushroom
     Reishi mushroom can be used as a herbal agent to improve the immune system and to prevent cancer. The herbal agent can cause various symptoms if excessive quantities are taken....more »
    1810. Hereditary Hemochromatosis
     A genetic disorder where too much iron is absorbed from food and it is stored in various parts of the body which can cause damage. There are 4 types of hemochromatosis and they are distinguished by age of onset, genetic cause and type of inheritance. Some...more »
    1811. Hereditary Leiomyomatosis and Renal Cell Cancer
     A rare inherited condition characterized by the presence of tumors that develop from smooth muscle tissue in the skin, uterus and the kidneys. The skin anomalies can occur on any part of the body and gradually increase in number and size with age. Kidney ...more »
    1812. Hereditary peripheral nervous disorder
     A group of inherited disorders affecting the peripheral nerves (nerves other than the brain and spinal cord). The motor, sensory and/or autonomic nerves may be affected. Examples of such conditions includes Dejerine-Sottas disease and Charcot-Marie-Tooth ...more »
    1813. Hereditary primary Fanconi disease
     A rare inherited disorder characterized by defective reabsorption of various substances such as phosphate, potassium, amino acids and glucose which manifests as a wide range of abnormalities and problems....more »
    1814. 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 »
    1815. 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 »
    1816. Herrmann Opitz arthrogryposis syndrome
     A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature....more »
    1817. Herrmann-Opitz craniosynostosi
     A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance....more »
    1818. Hersh-Podruch-Weisskopk syndrome
     A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness....more »
    1819. 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 »
    1820. 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 »
    1821. Hip Arthritis
     Inflammation of the hip joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    1822. Hip Replacement
     The replacement of a hip with an synthetic joint...more »
    1823. 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 »
    1824. Hip conditions
     Any condition that affects the hip...more »
    1825. Hip dislocation
    1826. Hip dysplasia -- enchondromata -- ecchondromata
     A very rare condition characterized by pelvic anomalies and multiple bone tumors....more »
    1827. Hip dysplasia, Beukes type
     A very rare inherited disease characterized by premature degeneration of the hip joints....more »
    1828. Hip fracture
     Fracture of the hip joint...more »
    1829. Hip injury
     Any injury that affects the hip...more »
    1830. Hip luxation
     Hip dislocation - the ball of the hip joint comes out of the socket....more »
    1831. Hip osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the hip joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all c...more »
    1832. Hip sprain
     Damage to ligaments in the hip....more »
    1833. Hip subluxation
     Partial dislocation of the hip - the ball of the hip joint is only partially in the socket....more »
    1834. Histidinuria, renal tubular defect
     A very rare syndrome where a kidney defect causes high levels of histidine in the urine....more »
    1835. Ho Kaufman-Mcalister syndrome
     A rare congenital disorder characterized by congenital heart disease, skeletal abnormalities and a cleft palate....more »
    1836. Hodgkin's Disease
     A form of cancer that affects the lymphatic system....more »
    1837. Hodgkin's disease, adult
     A type of cancer that affects the lymphatic system in adults. The lymphatic system forms part of the body's immune system. This type of cancer can also occur in children....more »
    1838. Hodgkin's disease, childhood
     A type of cancer that affects the lymphatic system in children. The lymphatic system forms part of the body's immune system. This type of cancer can also occur in children....more »
    1839. Hodgkin's disease, nodular sclerosis
     Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be ...more »
    1840. 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 »
    1841. 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 »
    1842. Holoprosencephaly deletion 2p
     A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies....more »
    1843. 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 »
    1844. 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 »
    1845. Holzgreve-Wagner-Rehder syndrome
     A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies....more »
    1846. Homocystinuria
     A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body....more »
    1847. 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 »
    1848. 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 »
    1849. 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 »
    1850. Hordnes-Engebretsen-Knudtson syndrome
     A very rare syndrome characterized by an abnormal skull shape, mental retardation, abnormally placed anus and narrowed pulmonary valve...more »
    1851. Houlston ironton temple syndrome de
     A rare syndrome characterized by forearm abnormality, heart defect and an eye anomaly called blepharophimosis....more »
    1852. Howard-Young syndrome
     A very rare syndrome characterized mainly by a small head, facial cleft and an extra big toe....more »
    1853. Hoyeraal-Hreidarsson syndrome
     A very rare syndrome characterized mainly by retarded growth, a small head, anemia, immunodeficiency and an underdeveloped brain (cerebellum)....more »
    1854. Human adjuvant disease
     This is a connective tissue disease that affects some people after the injection of synthetic material for cosmetic surgery...more »
    1855. Human parvovirus B19 infection
     An infectious disease caused by parovirus B19 which causes fifth disease and erythema infectiosum....more »
    1856. Humerospinal dysostosis -- congenital heart disease
     A very rare syndrome characterized mainly by various skeletal defects and heart disease which is present at birth....more »
    1857. 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 »
    1858. 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 »
    1859. 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 »
    1860. 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 »
    1861. Hunter-Mcdonald syndrome
     A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors....more »
    1862. Hurler syndrome
    1863. Hutchinson Gilford Syndrome
     A rare genetic disorder characterized by alopecia and senile-like appearance....more »
    1864. Hutterite cerebroosteonephrodysplasia syndrome
     A very rare disorder characterized by short stature and a severe degenerative brain disorder....more »
    1865. 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 »
    1866. Hyde-Forster-Mccarthy-Berry syndrome
     A very rare syndrome characterized mainly by mental retardation and an abnormal skull shape....more »
    1867. Hydrocephalus -- Skeletal Anomalies -- Mental Disturbance
     A very rare condition reported in only a few families and characterized by a buildup of fluid inside the brain, skeletal anomalies and mental disturbance....more »
    1868. Hydrocephalus -- costovertebral dysplasia -- Sprengel anomaly
     A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly)....more »
    1869. Hydrocephalus -- craniosynostosis -- bifid nose
     A very rare disorder characterized mainly by a buildup of fluid inside the skull, premature fusion of skull bones and a bifid nose....more »
    1870. 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 »
    1871. 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 »
    1872. Hydrocephalus autosomal recessive
     A rare, recessively inherited disorder where there is an abnormal buildup of fluid (cerebrospinal fluid) inside the skull....more »
    1873. Hydrocephalus obesity hypogonadism
     A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production....more »
    1874. Hydrocephalus skeletal anomalies
     A condition characterized by the association of hydrocephalus (buildup of fluid inside the brain) and skeletal anomalies....more »
    1875. Hydrocephaly low insertion umbilicus
     A very rare syndrome characterized mainly by a buildup of fluid inside the skull, umbilical cord abnormalities and heart defects....more »
    1876. Hydrocephaly tall stature joint laxity and kyphoscoliosis
     A very rare disorder characterized mainly by the association of excessive fluid in the skull (hydrocephaly), tall stature, loose joints and kyphoscoliosis. Various other anomalies may also be present....more »
    1877. Hydroid poisoning
     Hydroids are a type of jellyfish commonly found in the warmer oceans of the world....more »
    1878. Hydrolethalus syndrome
     A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly....more »
    1879. 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 »
    1880. 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 »
    1881. Hyper IgE
     Inherited immunodeficiency disorders involving excessive production of IgE and frequent bacterial (staphylococcal) infections mainly involving the skin as well as other problems. Recessively inherited forms of the condition tend to be more serious with bo...more »
    1882. Hyper-IgE Syndrome
     A condition characterized by an excess of immunoglobulin E...more »
    1883. 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 »
    1884. Hyperammonemia -- hypoornithinemia -- hypocitrullinemia -- hypoargininemia -- hypoprolinemia
     A rare syndrome caused by an enzyme deficiency (Delta-1-pyrroline 5-carboxylate synthetase)....more »
    1885. Hyperdibasic aminoaciduria type 2
     A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter)....more »
    1886. Hypereosinophilic syndrome
     A rare condition where too many eosinophils are produced over an extended period of time for no apparent reason. The eosinophils can infiltrate various organs and tissues and cause dysfunction or damage...more »
    1887. Hyperextensible joints
    1888. Hyperglycerolemia, infantile form
     A genetic condition where an enzyme deficiency (glycerol kinase) results in an accumulation of glycerol in the body as well as it's excretion through the urine. The infantile form of the condition involves a deficiency of complex glycerol kinase and is as...more »
    1889. Hyperhomocysteinemia
     Excessive homocysteine levels in blood. It is often associated with folate or cobalamin deficiency as well as genetic defects. Severity of symptoms is determined by how high the homocysteine levels are. Sufferers are generally asymptomatic until the onset...more »
    1890. Hyperimmunoglobinemia D with recurrent fever
     A very rare disorder involving a high immunoglobulin level associated with periods of fever which generally reoccur every month or two....more »
    1891. Hyperostosis cortical infantile
     A rare inflammatory disorder that affects bones and soft tissue in infants. The condition may affect virtually any bone and causes excessive enlargement of part of the bone (cortex). Infant feeding problems may occur if the jaw bone is affected which can ...more »
    1892. Hyperostosis-hyperphosphatemia syndrome
     A rare disorder characterized by the development of painful, recurring swellings on the long bones. The swellings are transient....more »
    1893. Hyperparathyroidism
     Increased secretion of parathyroid hormone from the parathyroid glands....more »
    1894. 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 »
    1895. Hyperparathyroidism, primary
     A rare genetic disorder where excessive activity of the parathyroid gland causes increased blood calcium levels which can cause various problems....more »
    1896. 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 »
    1897. Hyperprolactinemia
     High levels of prolactin in the blood....more »
    1898. Hypersecretion of growth hormone
    1899. Hypersensitivity to drugs
    1900. 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 »
    1901. 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 »
    1902. Hyperthermia induced defects
     A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction....more »
    1903. Hypertryptophanemia
     A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood....more »
    1904. Hyperuricaemia
    1905. Hypervitaminoses A and D
     The excessive physiological effect of vitamin A or D cause by excessive intake of the vitamins...more »
    1906. Hypoadrenalism
     Reduced adrenal gland activity....more »
    1907. Hypochondroplasia
     A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood....more »
    1908. Hypocomplementemic urticarial vasculitis
     A rare condition characterized by the presence of recurring urticarial vasculitis, arthralgia or arthritis and hypocomplementemia. Hypocomplementemia involves a reduction or absence of blood complement which is a part of the body's immune system which des...more »
    1909. Hypoglossia -- Hypodactylia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type II A involves an underdeveloped as well as variable degrees of absence of digits....more »
    1910. Hypoglossia -- Hypodactylomelia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type II C involves an underdeveloped as well as missing digit and limb anomalies....more »
    1911. Hypoglossia -- Hypomelia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type II B involves an underdeveloped as well as limb anomalies....more »
    1912. Hypoglossia with Situs Inversus
     A very rare birth malformation involving an abnormally small tongue (large portion is missing) and situs inverses which is a medical term for organs which are located on the wrong side of the body - e.g. heart on the right side of the body and liver on th...more »
    1913. Hypogonadism -- mitral valve prolapse -- mental retardation
     A very rare syndrome characterized mainly by a heart disorder, hypogonadism and mental retardation....more »
    1914. 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 »
    1915. Hypogonadotropic hypogonadism -- syndactyly
     A very rare syndrome characterized mainly by webbed toes and reduced gonad function....more »
    1916. Hypohidrotic Ectodermal Dysplasia
     An inherited disorder involving the developmental abnormalities during the fetal stage that can affect the skin, hair, nails, teeth and sweat glands. This form of ectodermal dysplasia is characterized by a reduced ability to sweat due to a lack of sweat g...more »
    1917. 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 »
    1918. 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 »
    1919. Hypomelia -- mullerian duct anomalies
     A rare genetic disorder characterized by severely underdeveloped arms and uterine and vaginal abnormalities....more »
    1920. Hypoparathyroidism -- short stature -- mental retardation
     A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation....more »
    1921. Hypoparathyroidism X-linked
     Low parathyroid levels inherited in a X-linked manner and hence only males are symptomatic and females are asymptomatic carriers....more »
    1922. 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 »
    1923. 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 »
    1924. 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 »
    1925. 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 »
    1926. 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 »
    1927. 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 »
    1928. 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 »
    1929. 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 »
    1930. 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 »
    1931. Hypotelorism -- cleft palate -- hypospadias
     A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes....more »
    1932. Hypothalamic hamartomas
     A benign congenital tumor that develops on or near the hypothalamus....more »
    1933. Hypothyroidism -- cleft palate
     A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning....more »
    1934. Hypothyroidism -- dermoid cyst -- cleft palate
     A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities....more »
    1935. Hypothyroidism postaxial polydactyly mental retardation
     A very rare syndrome characterized by abnormally low thyroid levels, extra digits, mental retardation and unusually facial appearance....more »
    1936. Hypotrichosis, syndactyly and retinal degeneration
     A rare syndrome characterized by reduced hair, syndactyly and retinal degeneration. The hand and finger anomalies are variable....more »
    1937. 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 »
    1938. 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 »
    1939. ICF syndrome
     A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies....more »
    1940. IMAGe syndrome
     A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities....more »
    1941. 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 »
    1942. Ichthyosis and male hypogonadism
     A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads....more »
    1943. Ichthyosis male hypogonadism
     A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads....more »
    1944. Ichthyosis microphthalmos
     A rare genetic disorder characterized by dry scaly skin and small eyes....more »
    1945. Ichthyosis tapered fingers midline groove up
     A very rare syndrome characterized by scaly skin and facial and finger anomalies....more »
    1946. Ichthyosis-cheek-eyebrow syndrome
     A rare genetic disorder involving sparse eyebrows, full cheeks and a skin condition characterized by fish-like scales....more »
    1947. Idaho syndrome
     A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect....more »
    1948. Idiopathic adolescent scoliosis
     Spinal curvature that occurs in adolescents for no apparent reason....more »
    1949. Idiopathic hypereosinophilic syndrome
     A rare blood disorder where the bone marrow produces too many eosinophils over a long period of time which can cause organ or tissue damage. The disorder can affect and part of the body but most often affects the skin, heart and nervous system. The increa...more »
    1950. Idiopathic osteoporosis
     Idiopathic osteoporosis is a rare type of osteoporosis.This type of osteoporosis occurs in children and young adults who have normal hormone levels, normal vitamin levels, and no obvious reason to have weak bones....more »
    1951. IgA nephropathy
     A rare disorder where kidney inflammation leads to a build up of the antibody (IgA) in the kidney which results in the characteristic symptom of blood in the urine....more »
    1952. Iida-Kannari syndrome
     A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones....more »
    1953. Iliotibial Band Syndrome
     Knee inflammation usually from prolonged overuse...more »
    1954. Imaizumi Kuroki syndrome
     A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities....more »
    1955. 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 »
    1956. Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
     Susceptibility to infection as a result of a genetic defect which affects immunity. Infections tend to be severe and can be life-threatening....more »
    1957. Immunodeficiency with short limb dwarfism
     A very rare condition where short-limbed dwarfism is associated with immunodeficiency....more »
    1958. 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 »
    1959. 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 »
    1960. 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 »
    1961. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
     An inherited muscle wasting disorder associated with dementia and bone disease....more »
    1962. 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 »
    1963. India tick typhus
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    1964. Indian tick fever
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    1965. Infantile Fibrosarcoma
     A tumor that develops from fibroblasts (cells that produce connective tissue) and tends to occur in soft tissue or in areas surrounding bones. Juvenile fibrosarcoma tends to have a much better prognosis compared to adult fibrosarcoma....more »
    1966. Infantile hypophosphatasia
     An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition becomes noticeably during infancy and involves a period of normal development (about 6 months) followed by deterioration due...more »
    1967. Infantile multisystem inflammatory disease
     A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis....more »
    1968. Infantile myofibromatosis
     A benign fibrous tumor that usually occurs in children or infants. The tumor is not cancerous but the location and size of the tumor can cause problems and even death in some cases if certain organs are involved. Tumors can occur in the skin, muscle, inte...more »
    1969. Infantile recurrent chronic multifocal osteomyolitis
     A rare disorder characterized by recurring periods of inflammation. The cause is undetermined and tends to affect mostly children. It is often associated with certain autoimmune diseases such as psoriasis and Wegener's granulomatosis....more »
    1970. 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 »
    1971. Infantile spasms -- broad thumbs
     A very rare syndrome characterized mainly by spasms during infancy and broad thumbs....more »
    1972. Infection with Mycobacterium marinum
     An infectious disease caused by a bacterium called Mycobacterium marinum which can infect fish and humans. It is often transmitted through contact with contaminated fresh or salt water e.g. handling water in aquariums or swimming....more »
    1973. Infectious CFS
     Infectious chronic fatigue syndrome is a chronic fatigue condition which may follow severe infections - viral or other. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition....more »
    1974. Infectious arthritis
     A rare condition where arthritis occurs as a result of joint infection by a bacteria, virus or fungus. Symptoms vary according to the infection type....more »
    1975. 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 »
    1976. Influenza A
     A type of virus affecting the respiratory tract...more »
    1977. Influenza B
     A type of virus affecting the respiratory tract...more »
    1978. Inheritable disorders of connective tissue
     Disorders that affect the connective tissue of the body that are handed down from generation to generation...more »
    1979. Insect allergy
     An allergic response to a wasp sting....more »
    1980. Insulin resistance, short fifth metacarpals
     A rare syndrome characterized by short fifth fingers and fifth hand bones as well as insulin resistance....more »
    1981. 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 »
    1982. 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 »
    1983. 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 »
    1984. 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 »
    1985. Interstitial cystitis
     A rare condition involving inflammatory disease of the bladder which progresses slowly....more »
    1986. Interstitial lung disease
     Any condition which affects the interstitium of the lungs...more »
    1987. Intracranial Hemorrhages
     Bleeding inside the skull. The condition is a medical emergency and the greater the bleeding, the more severe the condition....more »
    1988. Intracranial aneurysms -- multiple congenital anomaly
     A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities....more »
    1989. Intraoral Bands -- Hypoglossia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type IV B involves mainly an abnormal band of tissue inside the mouth as well as abnormal fusion of structures inside t...more »
    1990. Intraoral Bands -- Hypoglossia -- Hyopmelia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type IV D involves mainly an abnormal band of tissue inside the mouth as well as abnormal fusion of structures inside t...more »
    1991. Intraoral Bands -- Hypoglossia -- Hypodactylia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type IV C involves mainly an abnormal band of tissue inside the mouth as well as abnormal fusion of structures inside t...more »
    1992. Intraoral Bands -- Hypoglossia -- Hypodactylomelia
     Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type IV E involves mainly an abnormal band of tissue inside the mouth as well as abnormal fusion of structures inside t...more »
    1993. 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 »
    1994. 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 »
    1995. Iridogoniodysgenesis and skeletal anomalies
     A rare syndrome characterized by skeletal anomalies, congenital glaucoma and an unusual facial appearance....more »
    1996. Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation
     A rare syndrome characterized mainly by a small head, brain anomaly, short digits, mental retardation and an eye defect....more »
    1997. 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 »
    1998. 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 »
    1999. Irritable bowel syndrome
     Spasms in the colon wall...more »
    2000. Ischiadic hypoplasia -- renal dysfunction -- immunodeficiency
     A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped...more »
    2001. Ischio-spinal dysostosis
     A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart ...more »
    2002. Ischio-spinal dysostosis -- rib gaps -- nephroblastomatosis
     A rare syndrome characterized by underdeveloped ischial bones (lower back portion of hip bone) and vertebral anomalies and kidney disease....more »
    2003. Ischio-spinal dysostosis with cystic kidney disease
     A rare syndrome characterized by underdeveloped ischial bones (lower back portion of hip bone), vertebral anomalies and kidney disease....more »
    2004. Ischio-vertebral dysplasia
     A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart ...more »
    2005. Ischio-vertebral syndrome
     A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart ...more »
    2006. Ischiopatellar dysplasia
     A very rare disorder involving abnormal bone development in the legs and pelvis. Other anomalies involving the face and skull may also be involved occasionally....more »
    2007. Isolated Growth Hormone Deficiency, Type IB
    2008. 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 »
    2009. Israeli spotted fever
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    2010. 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 »
    2011. 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 »
    2012. 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 »
    2013. Jaffe-Lichtenstein syndrome
     A rare genetic bone disorder characterized by benign bone growths which can cause painful swellings and bone deformities and makes bone prone to fractures....more »
    2014. Jaffe-Lichtenstein-Sutro syndrome
     A rare disorder characterized by pain and limited movement in one or more large joints such as the knee....more »
    2015. Jaffer-Beighton syndrome
     A rare inherited syndrome characterized by loose joints, slipped vertebrae and long, thin fingers....more »
    2016. Jansen type metaphyseal chondrodysplasia
     A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities....more »
    2017. Jaw conditions
     Conditions affecting the temporomandibular joint (the jaw)....more »
    2018. Jaw joint disorders
     Any condition involving the jaw joint....more »
    2019. Jequier-Kozlowski-skeletal dysplasia
     A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies....more »
    2020. 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 »
    2021. 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 »
    2022. Job syndrome
     An immunodeficiency disorder characterized by excessive production of IgE and frequent bacterial infections mainly involving the skin....more »
    2023. Joint contractures -- dwarfism -- normal intelligence
     A rare syndrome characterized mainly by short stature and joint contractures....more »
    2024. Joint injury
     An injury to any joint in the body. The larger limb joints tend to be the most utilized and are hence more prone to injuries. Severity of symptoms varies depending on the type and location of injury and often the primary symptom is pain. A joint injury ca...more »
    2025. Joint injury -- elbow
     An injury to the elbow which is the joint between the upper and lower arm. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. An elbow injury can involve damage to the bones, ligaments or ot...more »
    2026. Joint injury -- hip
     An injury to the knee which is the joint at the uppermost part of the leg. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A hip injury can involve damage to the bones, ligaments or other...more »
    2027. Joint injury -- knee
     An injury to the knee which is the joint between the upper and lower leg. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A knee injury can involve damage to the bones, ligaments or other...more »
    2028. Joint laxity, familial
     A very rare syndrome characterized mainly by loose joints. Joint dislocations tend to occur mainly in the shoulders, hips and kneecap....more »
    2029. Jorgenson-Lenz syndrome
     A very rare syndrome characterized mainly by joint problems, mental retardation and various eye and other anomalies....more »
    2030. 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 »
    2031. 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 »
    2032. Jung-Wolff-Back-Stahl syndrome
     A very rare syndrome characterized mainly by brain abnormalities, mental retardation and facial and skull anomalies....more »
    2033. 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 »
    2034. 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 »
    2035. Juvenile Paget's Disease
    2036. 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 »
    2037. Juvenile gout
     Gout that occurs in children as a result of kidney disease caused by a genetic defect....more »
    2038. 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 »
    2039. Juvenile idiopathic arthritis
     A group of chronic inflammatory joint disorders that affects children. The condition generally involves periods of time where the condition is active followed by periods of abatement of symptoms. In some cases, the condition can be systemic and can cause ...more »
    2040. Juvenile idiopathic arthritis, unclassified
     A chronic inflammatory joint condition affecting children. This particular subtype is defined as unclassified as it doesn't fit into any of the other classifications....more »
    2041. Juvenile macular degeneration and hypotrichosis
     A very rare syndrome characterized mainly by hair loss and eye degeneration....more »
    2042. Juvenile macular degeneration, hypotrichosis
     A very rare syndrome characterized mainly by hair loss and eye degeneration....more »
    2043. 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 »
    2044. KBG Syndrome
     A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones....more »
    2045. Kabuki syndrome
     A rare genetic disorder characterized by distinctive facial features....more »
    2046. 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 »
    2047. Kalam-Hafeez syndrome
     A rare disorder characterized by low parathyroid levels in infants, retarded growth, mental retardation, dysmorphic features and seizures....more »
    2048. Kaler-Garrity-Stern syndrome
     A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair....more »
    2049. 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 »
    2050. 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 »
    2051. Kaplan-Plauchu-Fitch syndrome
     A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities....more »
    2052. Kaplowitz-Bodurtha syndrome
     A very rare syndrome characterized mainly by reduced pituitary hormone production and small eyes....more »
    2053. Kashani-Strom-Utley syndrome
     A very rare syndrome characterized mainly by a narrowed pulmonary aorta and urinary obstructive disease....more »
    2054. Kashin-Bek disease
     A disease involving progressive joint degeneration which affects the spine and hands and feet. The condition becomes progressively worse and eventually leads to disability. The condition is most often seen in children who live in the northern parts of Chi...more »
    2055. Kasznica-Carlson-Coppedge syndrome
     A very rare syndrome characterized mainly by missing fingers or cleft hand, spina bifida and heart disease....more »
    2056. Katayama fever
     An acute disease due to infection with Schistosoma parasites. Transmission can occur through contact with infected waters....more »
    2057. 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 »
    2058. Kawasaki disease
     A childhood illness that generally affects the skin, mouth and lymph nodes....more »
    2059. Kearns-Sayre Syndrome
     A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles....more »
    2060. Kelley-Seegmiller syndrome
     A rare genetic disorder characterized by the formation of stones in the urinary tract, early-onset gout and mild neurological symptoms. It is caused by a partial deficiency of hypoxanyhine-guanine phosphoribosyl transferase....more »
    2061. 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 »
    2062. Kennerknecht-Sorgo-Oberhoffer syndrome
     A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart....more »
    2063. Kennerknecht-Vogel syndrome
     A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities....more »
    2064. Kenny-Caffey Syndrome
     A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities....more »
    2065. 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 »
    2066. Kenny-Caffey syndrome, Type 2
     A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities....more »
    2067. Kenya fever
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    2068. Kenya tick typhus
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    2069. Kenya tick-bite fever
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    2070. Keratosis follicularis -- dwarfism -- cerebral atrophy
     A very rare syndrome characterized mainly by dwarfism, brain degeneration and a hair follicle disorder....more »
    2071. 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 »
    2072. Keratosis palmoplantaris -- periodontopathia -- onychogryposis
     A rare syndrome characterized by gum disease, nail and skin problems and various other anomalies....more »
    2073. Keutel syndrome
     A rare genetic syndrome characterized by narrowing of blood flow through the pulmonary artery, calcification of cartilage (such as in nose, ear, ribs) and short end bones on fingers and toes...more »
    2074. Kidney conditions
     Any condition affecting the kidney organs....more »
    2075. King-Denborough syndrome
     A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems....more »
    2076. 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 »
    2077. Kleeblattschaedel syndrome
     A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped....more »
    2078. Kleiner-Holmes syndrome
     A very rare syndrome characterized mainly by big toe abnormalities including partial or complete duplication of the big toe....more »
    2079. 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 »
    2080. Klinefelter syndrome variant
    2081. 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 »
    2082. Klippel Feil Syndrome
     A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable....more »
    2083. 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 »
    2084. Klippel-Feil syndrome recessive type
     A rare recessively inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable....more »
    2085. Klippel-Feil syndrome, dominant type
     A rare dominantly inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable....more »
    2086. Knee arthritis
     Inflammation of the knee joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions....more »
    2087. Knee conditions
     Any condition that affects the knee...more »
    2088. Knee injury
     Any injury that occurs to the knee...more »
    2089. Knee osteoarthritis
     A form of arthritis where the cartilage which cushions the bones in the knee joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all ...more »
    2090. Knee sprain
     Damage to ligaments in the knee....more »
    2091. Knee tendinitis
     Inflammation of the tendons of the knee joint....more »
    2092. Kniest dysplasia
     A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities....more »
    2093. Kniest-like dysplasia lethal
     A lethal syndrome characterized primarily by severe skeletal abnormalities....more »
    2094. Koller syndrome
     A rare syndrome involving thickened bones and dry skin with characteristic fish-like scales....more »
    2095. Kosztolanyi syndrome
     A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities....more »
    2096. Koussef nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    2097. Kousseff-Nichols syndrome
     A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities....more »
    2098. Kowarski syndrome
     A condition resulting from the presence of ineffective growth hormone....more »
    2099. Kozlowski-Brown-Hardwick syndrome
     A very rare syndrome characterized mainly by various skeletal anomalies, unusual facial appearance, eye abnormalities and communicating hydrocephaly....more »
    2100. Kozlowski-Celermajer syndrome
     A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities....more »
    2101. Krause-Kivlin syndrome
     A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly....more »
    2102. 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 »
    2103. Kuru
     An infectious prion disease that is only found in New Guinea...more »
    2104. Kuskokwim disease
     A rare syndrome where abnormal muscle attachment causes abnormalities such as muscle wasting or excessive growth and contractures....more »
    2105. 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 »
    2106. LEOPARD Syndrome
     A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness....more »
    2107. Lactotroph adenoma
     A benign pituitary tumor that secretes excessive prolactin which can affect the functioning of the reproductive system - testes and ovaries. The tumor may also grow large enough to compress adjacent structures such as the eye nerves....more »
    2108. Lambdoid synostosis familial
     Premature fusion of certain skull bones that results in the back of the head being flat. In familial cases, it tends to run in families and other abnormalities are occasionally associated....more »
    2109. Lamictal -- Teratogenic Agent
     There is evidence to indicate that exposure to Lamictal 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 »
    2110. Lamotrigine -- Teratogenic Agent
     There is evidence to indicate that exposure to Lamotrigine 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 »
    2111. Langer-Nishino-Yamaguchi syndrome
     A rare disorder characterized by deformed forearms and lower legs, cloudy corneas and enlarged kidneys. In the reported case, death occurred in the newborn period from kidney and heart failure....more »
    2112. Langerhans Cell Histiocytosis
     A condition which is characterized by proliferation of Langerhans cells...more »
    2113. Lanzietri syndrome
     A rare genetic disorder characterized by head and face abnormalities, dwarfism and absence of an lower leg bone (fibula)....more »
    2114. Large cell carcinoma
     Large cell carcinoma is the uncontrolled growth of abnormal cells in the lungs. This non-small cell lung cancer that represents 10% to 20% of all tumors that start in the bronchi, which are the main branches of the trachea that lead to the lungs....more »
    2115. Large granular lymphocyte leukemia
     A form of leukemia characterized by an increased number of circulating granular lymphocytes....more »
    2116. Laron Dwarfism
     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 »
    2117. Laron Pituitary Dwarfism
     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 »
    2118. Laron Syndrome
     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 »
    2119. Laron Type Pituitary Dwarfism 1
     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 »
    2120. Laron syndrome type 1
     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 »
    2121. Laron syndrome type 2
     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 »
    2122. Laron-type Dwarfism Phenotypic Syndrome
     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 »
    2123. Laron-type dwarfism
     A rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results....more »
    2124. Larsen syndrome
     A rare genetic disorder characterized by multiple joint dislocation, a flat face and short fingernails....more »
    2125. Larsen syndrome, dominant type
     A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual dish-shaped face. The dominant form tends to have less severe dwarfism and more severe flattening of the face and is less li...more »
    2126. Larsen syndrome, recessive type
     A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face....more »
    2127. Larsen-like osseous dysplasia -- dwarfism
     A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism....more »
    2128. Larsen-like syndrome, lethal form
     A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities. The condition is a manifestation of abnormal collagen formation....more »
    2129. Larsen-like syndrome, lethal type
     A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities....more »
    2130. Larynx atresia
     A very rare birth disorder where a thin membrane obstructs the laryngeal opening....more »
    2131. Lateral body wall complex
     A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth....more »
    2132. Lateral meningocele syndrome
     A rare syndrome characterized mainly by lateral meningoceles (openings in the spinal cord on the inside of the spine) as well as craniofacial anomalies. The syndrome is believed to involve the abnormal development of the spinal cord, cerebellum and cerebr...more »
    2133. Lathosterolosis
     A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease....more »
    2134. Lawrence-Seip syndrome
     Lawrence-Seip syndrome is a relatively uncommon condition involving generalized loss of skin fat that is acquired rather than congenital as in Berardinelli-Seip Syndrome. Patients can also develop diabetes mellitus and other problems. The loss of skin fat...more »
    2135. Le Marec-Bracq-Picaud syndrome
     A very rare syndrome characterized mainly by a large head, short arms and clubfoot....more »
    2136. Lead poisoning
     A type of heavy metal poisoning caused by excessive exposure to lead....more »
    2137. Lederle -- Teratogenic Agent
     There is evidence to indicate that exposure to Lederle (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 leve...more »
    2138. Ledermycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Ledermycin (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 »
    2139. Leg Duplication -- Mirror Foot
     A birth malformation characterized by the absence of the tibia and partial duplication of the foot. The partial duplication of the foot means that one foot can have as many as nine toes. Usually only one foot is affected....more »
    2140. Leg absence -- deformity -- cataract
     A very rare syndrome characterized mainly by missing bones in one leg, cataracts and progressive spinal curvature....more »
    2141. Legg-Calve-Perthes disease
     Femur/hip bone disease mostly in children...more »
    2142. Legg-Calve-Perthes syndrome
     A hip joint disorder where bone growth abnormalities caused by an interrupted blood supply to the head of the femoral bone results in it's degeneration and deformity. When the body creates a new blood supply, new healthy bone can be formed....more »
    2143. Leishmaniasis
     A rare infectious disease caused by any of a number of parasitic Leishmania species. Infection can cause any of three different manifestations: cutaneous leishmaniasis, mucosal leishmaniasis and visceral leishmaniasis....more »
    2144. Lenz Majewski hyperostotic dwarfism
     A rare genetic disorder characterized by dense, thick bones and symphalangism....more »
    2145. Lenz Microphthalmia Syndrome
     A condition which is characterized by an abnormally small eye...more »
    2146. Leri Pleonosteosis
     A ver rare inherited disorder involving skeletal malformations, short stature and flat facial features....more »
    2147. Leri-Weil syndrome
     A rare genetic disorder characterized by short forearms, madelung deformity and short lower legs in some cases....more »
    2148. Lesch-Nyhan syndrome
     Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT....more »
    2149. Leschke-Ullmann syndrome
     A rare genetic disorder characterized by patches of skin pigmentation, physical and mental retardation, dwarfism, sexual dysfunction and muscle problems....more »
    2150. Lethal chondrodysplasia, Moerman type
     A very rare lethal syndrome characterized mainly by abnormal bone development....more »
    2151. Lethal chondrodysplasia, Seller type
     A very rare lethal syndrome characterized mainly by angulated long bones and variation in bone density throughout the body....more »
    2152. Lethal congenital contracture syndrome (LCCS)
     A rare inherited lethal disorder characterized by multiple congenital contractures. There are two main types caused by different genetic defects. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webb...more »
    2153. Lethal congenital contracture syndrome 1
     A rare inherited lethal disorder characterized by multiple congenital contractures. Type 1 occurs as a result of a genetic defect on chromosome 9q34....more »
    2154. Leukemia
     Cancer of the blood cells, usually white blood cells....more »
    2155. Leukemia, Lymphocytic, Acute, L1
     Acute lymphocytic leukemia is a cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leuk...more »
    2156. Leukemia, Lymphocytic, Acute, L2
     Acute lymphocytic leukemia is a cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leuk...more »
    2157. Leukemia, Lymphocytic, Acute, L3
     Acute lymphocytic leukemia is a relatively aggressive cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the a...more »
    2158. Leukemia, Monocytic, Acute
     A cancer of the blood-forming tissues of the bone marrow involving the proliferation of a type of infection-fighting white blood cell called a monocyte. Acute leukemia involves a more rapid proliferation of cancer cells compared to chronic forms of leukem...more »
    2159. Leukemia, Myeloid
     A form of blood cancer that causes a proliferation of the precursors or immature red blood cells, platelets and certain white blood cells such as granulocytes and monocytes....more »
    2160. Leukemia, Myeloid, Aggressive-Phase
     Myeloid leukemia is a form of cancer where the bone marrow makes too many myeloid cells (granulocytes and their precursors) in the bone marrow which accumulates in the blood and eventually invades various parts of the body. The aggressive phase of myeloid...more »
    2161. Leukemia, Myeloid, Chronic
     A slow-growing cancer where the bone marrow makes too many myeloid cells (granulocytes and their precursors) in the bone marrow which accumulates in the blood and eventually invades various parts of the body....more »
    2162. Leukemia, Myeloid, Philadelphia-Negative
     Acute lymphocytic leukemia is a relatively aggressive cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the a...more »
    2163. Leukemia, Myeloid, Philadelphia-Positive
     A relatively aggressive cancer of the cells that produce white blood cells. The Philadelphia form of myeloid leukemia carries a relatively poor prognosis. It involves an acquired genetic mutation which results in the production tyrosine kinase which cause...more »
    2164. Leukemia, T-Cell
     A form of blood cancer characterized by the proliferation of cancerous T-cells which make up part of the body's immune system. The exact symptoms and progression vary depending on the subtype involved....more »
    2165. Leukemia, T-Cell, Acute
     A form of blood cancer characterized by the proliferation of cancerous T-cells which make up part of the body's immune system. The exact symptoms and progression vary depending on the subtype involved. The acute form involves a rapid proliferation of canc...more »
    2166. Leukemia, mast-cell
     A very aggressive form of leukemia - a subtype of acute myeloid leukemia. The cancer can in rare cases develop from chronic myeloid leukemia or systemic mastocytosis but generally develops on its own....more »
    2167. Leukocytoclastic angiitis -- systemic
     Inflammation of small blood vessels. Usually the small blood vessels in the skin are involved but sometimes small blood vessels in other organs such as joints, kidneys, and gastrointestinal tract may be involved. Symptoms become more serious once there is...more »
    2168. Leukodystrophy
     A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptom...more »
    2169. Leukoencephalopathy, arthritis, colitis and hypogammaglobulinemia
     A rare syndrome characterized by brain disease, arthritis, colitis and immune system problems....more »
    2170. Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
     A rare condition characterized by the association of arthritis, colitis, low blood gammaglobulin levels and brain anomalies....more »
    2171. Leukomelanoderma -- Infantalism -- Mental Retardation -- Hypodontia -- Hypotrichosis
     A rare syndrome characterized by poor growth, mental retardation and hair, tooth and skin anomalies....more »
    2172. Levothyroxine -- Teratogenic Agent
     There is evidence to indicate that exposure to Levothyroxine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    2173. Librium -- Teratogenic Agent
     There is evidence to indicate that exposure to Librium (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 be affect...more »
    2174. Lichstenstein syndrome
     A rare syndrome characterized mainly by frequent infections, osteoporosis, weak bones and other bone abnormalities....more »
    2175. Lightwood-Albright syndrome
     A rare syndrome caused by kidney dysfunction....more »
    2176. Limb transversal defect -- cardiac anomaly
     A very rare syndrome characterized mainly by heart anomaly and leg and hand malformations involving missing bones....more »
    2177. Limb-body wall complex
     A rare condition where disruption of the amniotic band system can result in head, heart, lung, diaphragm, kidney or gonad abnormalities ....more »
    2178. Limb-girdle muscular dystrophy type 2C
     An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the gamma-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to as...more »
    2179. Limb-girdle muscular dystrophy type 2D
     An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the alpha-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to as...more »
    2180. Limb-girdle muscular dystrophy type 2E
     An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asy...more »
    2181. Limb-girdle muscular dystrophy type 2F
     An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the delta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to as...more »
    2182. Lindstrom syndrome
     A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures....more »
    2183. Liotrix -- Teratogenic Agent
     There is evidence to indicate that exposure to Liotrix during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure an...more »
    2184. Lipidosis with triglyceride storage disease
     A very disorder involving abnormal storage of fat (triglycerides in parts of the body). The condition causes blood abnormalities as well as skin, eye and hearing problems....more »
    2185. Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
     A rare inherited disorder characterized by loss of fat under the skin, diabetes, heart muscle disease, fatty liver...more »
    2186. Lissencephaly -- immunodeficiency
     A very rare syndrome characterized mainly by abnormal brain development and a poor immune system....more »
    2187. Lissencephaly syndrome type 1
     A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted resulting in mental retardation. Physical malformations are also present....more »
    2188. Lissencephaly type III -- metacarpal bone dysplasia
     A rare syndrome characterized by an abnormally smooth brain as well as abnormal bone development in the hands....more »
    2189. Lithium -- Teratogenic Agent
     There is evidence to indicate that exposure to Lithium 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 »
    2190. Liver cancer
     Hepatocellular carcinoma (HCC) is a primary malignancy of the liver....more »
    2191. Liver failure
     Acute liver failure (ALF) is an uncommon condition in which the rapid deterioration of liver function results in coagulopathy and alteration in the mental status of a previously healthy individual....more »
    2192. Lobstein disease
     A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problema...more »
    2193. Local anaesthetic allergy
     Using Local anaesthetic can cause an allergic response in some people however this is considered rare. It involves the body's immune system overreacting to the drug. The type and severity of symptoms can vary considerable though skin symptoms are the most...more »
    2194. Localized epiphyseal dysplasia
     A very rare syndrome characterized mainly by localized abnormality of part of the bone where growth occurs....more »
    2195. Lockwood-Feingold syndrome
     A rare genetic disorder characterized mainly by arthritis, skeletal abnormalities and a lack of subcutaneous fat....more »
    2196. Loewenthal syndrome
     A rare disorder involving thickening and hardening (sclerosis of connective tissue and skin fat) which affects muscles and movement....more »
    2197. Loeys-Dietz syndrome
     A very rare syndrome characterized mainly by a bulge in the aorta (aneurysm), wide set eyes, cleft palate, divided uvula and twisted arteries....more »
    2198. Long thumb brachydactyly, maxillary hypoplasia, mental retardation and unusual facies
     A rare syndrome characterized by short stature, short digits, underdeveloped upper jaw, mental retardation and an unusual facial appearance....more »
    2199. Long thumb, brachydactyly syndrome
     A rare disorder characterized primarily by a long thumb, short fingers and toes and heart conduction defects....more »
    2200. Lop ears, Micrognathia and Conductive Hearing Loss
     A very rare condition (described in only a few families) characterized by a small jaw, conductive hearing loss and abnormal ears....more »
    2201. Loratadine -- Teratogenic Agent
     There is evidence to indicate that exposure to Loratadine 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 »
    2202. Lotrimin -- Teratogenic Agent
     There is evidence to indicate that exposure to Lotrimin (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 affected...more »
    2203. Low birth weight -- dwarfism -- dysgammaglobulinemia
     A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality....more »
    2204. Lowe oculocerebrorenal syndrome
     A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems....more »
    2205. Lower limb anomaly -- ureteral obstruction
     A very rare syndrome characterized mainly by an obstructed ureter and a leg anomaly....more »
    2206. Lowry-Maclean syndrome
     A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones....more »
    2207. Lowry-Wood syndrome
     A rare syndrome characterized by a small head, rapid involuntary eye movements (nystagmus) and abnormal development of the ends of long bones where growth occurs....more »
    2208. Lufyllin -- Teratogenic Agent
     There is evidence to indicate that exposure to Lufyllin (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 ...more »
    2209. Lujan-Fryns syndrome
     A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome)....more »
    2210. Lumbar malsegmentation -- short stature
     A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine....more »
    2211. Lumbar malsegmentation, short stature and facial anomalies
     A rare syndrome characterized by vertebral abnormalities, short stature and facial anomalies....more »
    2212. Lupus
     Autoimmune disease with numerous effects on various organs and linings....more »
    2213. Lurie-Kletsky syndrome
     A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia....more »
    2214. Lutz-Mischer syndrome
     A skin disorder that affects mainly the neck and involves circular areas of hard red skin bumps. It is often seen in condition such as Marfan's syndrome, Ehlers-Danlos syndrome and Down's syndrome....more »
    2215. Lyme disease
     Lyme disease is an emerging infectious disease caused by at least three species of bacteria belonging to the genus Borrelia....more »
    2216. Lymphangiectasies and lymphedema Hennekam type
     A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation....more »
    2217. Lymphangiomatosis, pulmonary
     A rare disorder characterized by the presence of numerous small lung cysts at birth which severely affects breathing and blood pressure and generally results in infant death....more »
    2218. Lymphedema, congenital
     A very disorder present from birth where the lymph system is obstructed. Often, other abnormalities are also present....more »
    2219. Lymphedema, microcephaly and chorioretinopathy syndrome
     A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....more »
    2220. Lymphocyte depletion Hodgkin's disease
     Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be ...more »
    2221. Lymphocytic Choriomeningitis
     Rodent-borne viral disease often causing meningitis or encephalitis...more »
    2222. Lymphocytic leukemia
     A condition characterized by the proliferation of lymphoid tissues...more »
    2223. Lymphoedema -- Microcephaly -- Chorioretinopathy Syndrome
     A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....more »
    2224. Lymphoedema -- Microcephaly -- chorioretinopathy
     A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....more »
    2225. Lymphoedema -- atrial septal defects -- facial changes
     A rare inherited syndrome characterized by lymphoedema of the legs at birth, heart defects and facial anomalies....more »
    2226. Lymphoedema -- lymphangiectasia -- mental retardation
     A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation....more »
    2227. Lymphoma, Large-Cell, Follicular
     A cancer of cells in the immune system. The cancer is comprised of large cells and tends to be aggressive and metastasizes readily....more »
    2228. Lymphoma, large-cell
     A cancer of cells in the immune system. The cancer is comprised of large cells and tends to be aggressive and metastasizes readily....more »
    2229. Lymphoma, large-cell, immunoblastic
     A cancer of the immune system characterized by the presence of immunoblasts. Immunoblasts are T cells which have been transformed due to stimulation by an antigen....more »
    2230. Lymphomatoid Granulomatosis
     A rare, progressive blood vessel disease where nodular lesions destroy blood vessels - lungs, skin and nervous system are mainly involved....more »
    2231. Lymphomatous thyroiditis
     Progressive thyroid gland enlargement due to autoimmune disease....more »
    2232. MASA Syndrome
     A very rare inherited disorders characterized by mental retardation (M), aphasia (A), shuffling walk (S) and adducted thumbs (A). The symptoms are variable from case to case but mental retardation is a consistent feature....more »
    2233. MASS syndrome
     A genetic syndrome that is similar the Marfan syndrome but does not involve lens dislocation. It is a connective tissue disorder that involves the skeleton, skin, aorta and mitral valve....more »
    2234. MELAS
     A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms....more »
    2235. MLCRD Syndrome
     A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies....more »
    2236. MPS 3 C
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called acetyl-CoA:alpha-glucosamide N-acetyltransferase. Mucopolysaccharide levels build up and are then dep...more »
    2237. MPS-IV (Morquio Disease)
     A condition which is characterized by biochemically distinct mucopolysaccharidosis...more »
    2238. MRXS-Christianson
     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 »
    2239. MSBD syndrome
     A rare form of osteosclerosis caused by a lack of calcium in the bones....more »
    2240. MULIBREY Nanism
     A genetic condition...more »
    2241. Mac Duffie's syndrome
     A rare syndrome characterized by immune system problems where immune system particles are deposited on amall blood vessel walls...more »
    2242. MacDermot-Winter syndrome
     A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella)....more »
    2243. Macleod-Fraser syndrome
     An inherited connective tissue disorder characterized by long thin fingers and contractures involving the knees, elbows, fingers and sometimes other joints....more »
    2244. Macrocephaly -- short stature -- paraplegia
     A rare syndrome characterized by a large head, short stature and spastic paraplegia....more »
    2245. Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations
     A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems....more »
    2246. Macrocephaly, rhizomelia and conductive hearing loss
     A rare syndrome characterized by a large head, short limbs and conductive hearing loss....more »
    2247. Macrodactyly -- Hemihypertrophy -- Connective tissue nevi syndrome
     A birth disorder characterized manily by large toes, large head, skin pigmentation anomaly and asymmetrical face and arm....more »
    2248. Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
     A rare disorder characterized by osteoporosis, wrinkled skin, aged appearance and abnormal bone development....more »
    2249. Macrophagic myofasciitis
     A rare form inflammatory muscle disease which is more predominant in adults. A possible cause is believed to be aluminium found in some vaccines....more »
    2250. Macrosomia with lethal microphthalmia
     A very rare syndrome characterized mainly by very small eyes and a large body size at birth....more »
    2251. Macules hereditary congenital hypopigmented hyperpigmented
     A rare inherited genetic disorder involving small flat areas increased and decreased skin pigmentation....more »
    2252. Macules, hereditary, congenital hypopigmented and hyperpigmented
     A rare inherited genetic disorder involving small flat areas increased and decreased skin pigmentation....more »
    2253. Madokoro-Ohdo-Sonoda syndrome
     A rare disorder characterized by the absence of all four limbs, an unusual face and retarded development....more »
    2254. Maffucci Syndrome
     A rare genetic disorder characterized by benign cartilage overgrowths, skeletal deformities and dark red irregular skin patches....more »
    2255. Maghazaji syndrome
     A rare syndrome characterized by enlargement of some fingers as well as the underdevelopment of the lower half of one side of the face....more »
    2256. Majeed syndrome
     A rare syndrome characterized by blood abnormality and recurring bone infections....more »
    2257. Major depressive disorder related fibromyalgia
     Major depressive disorder related fibromyalgia refers to fibromyalgia that is associated with major depression. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues....more »
    2258. Malformations in neuronal migration
     A rare disorder where the brain fails to develop normally - usually the cerebral cortex is involved. Various parts of the brain can be affected to various degrees depending on what stage of development the defect occurs. Mental retardation is one of the m...more »
    2259. Malignant mixed Mullerian tumor
     A rare malignant cancer that develops in the uterus, ovary or fallopian tubes. The tumor contains epithelial and stromal cells. The cancer may be slow-growing or aggressive and may metastasize....more »
    2260. Malignant rhabdoid tumors
     An aggressive malignant tumor that occurs in children. Symptoms depend on the location of the tumor. The tumors often form in the kidneys and then tend to metastasize to the brain and sometimes the lungs. Symptoms will vary depending on the location of th...more »
    2261. Malocclusion -- short stature syndrome
     A rare inherited disorder characterized by an open bite, short stature and a triangular face....more »
    2262. Mandibuloacral dysplasia
     A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. There are two subtypes with type B involving loss of fat layers under the skin mainly in the extremities, face and trunk whereas type A involves mainly the ...more »
    2263. Mandibuloacral dysplasia with type A lipodystrophy
     A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable....more »
    2264. Mandibuloacral dysplasia with type B lipodystrophy
     A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities, face and trunk in type B. The severity of the symptoms is variable....more »
    2265. Mannosidosis, alpha B lysosomal
     A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage....more »
    2266. Manouvrier syndrome
     A very rare syndrome characterized mainly by the failure of the lungs to develop fully, heart defects and thumb abnormalities....more »
    2267. Mansonella ozzardi infection
     Infection with a type of nematode (Mansonella ozzardi) found in Central America, South America and the Caribbean. Infection occurs through the bit of infected midges and blackflies....more »
    2268. Mansonelliasis
     Infection with a nematode (worm-like parasite) called Mansonella. Transmission usually occurs through the bite of a midge....more »
    2269. Manz syndrome
     A rare inherited kidney disorder characterized low blood magnesium and high urine calcium levels as well as nystagmus....more »
    2270. Marburg virus
     Serious virus related to Ebola....more »
    2271. Marden-Walker Syndrome
     A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression....more »
    2272. Marden-Walker-like syndrome
     A very rare syndrome characterized mainly by long, thin fingers, contractures from birth and narrow eye slits....more »
    2273. Marfan syndrome
     A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue....more »
    2274. Marfan-Like syndrome
     Any congenital condition with a group of symptoms that resembles Marfan syndrome but doesn't quite fulfill all the criteria. Marfan syndrome is a connective tissue disorder that affects the skeleton, lungs, eyes, heart and blood vessels....more »
    2275. Marfan-like syndrome, Boileau type
     A rare disorder that is similar to Marfan syndrome but tends to only involve skeletal and cardiovascular symptoms and signs....more »
    2276. Marfanoid -- mental retardation syndrome autosomal
     A very rare syndrome characterized mainly by psychomotor retardation, a flat face and some symptoms of Marfan syndrome (long arms and legs, tall stature, reduced skin fat and poor muscle tone)....more »
    2277. Marfanoid hypermobility
     An inherited connective tissue disorder with certain characteristics of Marfan and Ehlers-Danlos syndromes. Ehlers-Danlos syndrome is characterized by hyperextensible skin and loose joints and Marfan syndrome is characterized by symptoms such as tall, sle...more »
    2278. Marie-Bamberg syndrome
     A rare condition characterized by clubbing of fingers and toes, excessive sweating and development of fibrous tissue around the ends of bones. The condition is a form of hypertrophic osteoarthropathy that occurs secondary to other conditions such as cardi...more »
    2279. Marinesco-Sjogren I
     A rare condition characterized by cerebellar ataxia, speaking difficulty, mental retardation, short stature and tooth, hair and nail abnormalities....more »
    2280. Marinesco-Sjogren syndrome
     A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly....more »
    2281. Maroteaux-Fonfria syndrome
     A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome....more »
    2282. Maroteaux-Stanescu-Cousin syndrome
     A very rare lethal syndrome characterized mainly by abnormal bone development....more »
    2283. Maroteaux-Verloes-Stanescu syndrome
     A very rare syndrome where abnormal bone development starts early in life and is fairly severe but after a few years, the bones return to almost normal. Adult height is nearly normal and bowed limbs usually straighten....more »
    2284. Marseilles fever
     An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and...more »
    2285. Marshall syndrome
     A rare genetic disorder characterized by a distinctive face and vision and hearing impairment....more »
    2286. Marshall-Smith Syndrome
     A rare genetic disorder characterized by accelerated growth and maturation, shallow orbits and broad middle bones of fingers....more »
    2287. Martsolf syndrome
     A rare inherited condition characterized by mental retardation, cataracts, small head and hypogonadism (reduced production of hormones by ovaries or testes)....more »
    2288. Massa-Casaer-Ceulemans syndrome
     A very rare syndrome characterized mainly by abnormal brain development (lissencephaly - smooth brain) and multiple joint contractures at birth....more »
    2289. Mastocytosis
     A disorder where excessive amounts of mast cells proliferate in organs such as the skin, liver, bone, spleen and gastrointestinal tract. Mast cells occur in connective tissue and defend the body against disease by releasing histamine to stimulate the immu...more »
    2290. Mastocytosis -- short stature -- hearing loss
     A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment....more »
    2291. Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
     A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment....more »
    2292. Matsoukas syndrome
     An extremely rare condition characterized by mental retardation, eye problems, facial anomalies and joint problems....more »
    2293. Matsoukas-Liarikos-Giannika syndrome
     A very rare syndrome characterized mainly by mental retardation, short stature and eye and joint abnormalities....more »
    2294. Mauriac syndrome
     A rare disorder characterized by diabetes, short stature and obesity....more »
    2295. Maxillo-nasal dysostosis
     A rare disorder that may be inherited in some cases and is characterized by a distinctive face....more »
    2296. Maxillonasal dysplasia, Binder type
     A rare disorder that may be inherited in some cases and is characterized by a distinctive face....more »
    2297. Mayaro fever
     Infection with a type of virus (Mayaro virus) transmitted by mosquito bites. The disease is most common in South America. The incubation period is one to two weeks....more »
    2298. Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2)
     A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature....more »
    2299. McCune-Albright Syndrome
     A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material....more »
    2300. McGillivray syndrome
     A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia....more »
    2301. Meckel Syndrome
     A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks....more »
    2302. Meclizine -- Teratogenic Agent
     There is evidence to indicate that exposure to Meclizine 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 »
    2303. Meconium aspiration syndrome
     A condition that occurs when an infant suffers respiratory distress following birth due to the presence of meconium in the amniotic fluid....more »
    2304. Median cleft lip, corpus callosum, lipoma, and skin polyps
     A very rare syndrome characterized mainly by a cleft lip, lipoma, skin polyps and abnormal brain development....more »
    2305. Median cleft, corpus callosum, lipoma, and cutaneous polyps
    2306. Medication induced osteoporosis
     Chronic intake of a certain group of medications can lead to osteoporosis....more »
    2307. Mediterranean Spotted Fever
     A condition caused by Rickettsia rickettsia transmitted by the tick...more »
    2308. Medrano-Roldan syndrome
     A very rare syndrome characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation....more »
    2309. Medullary cystic kidney disease
     A rare genetic kidney disease involving the development of cyst in the kidney which causes problems with kidney function....more »
    2310. Medullary cystic kidney disease, dominant
     A rare genetic kidney disease which can lead to kidney failure....more »
    2311. Megalencephaly -- polymicrogyria -- post-axial polydactyly -- hydrocephalus
     A rare syndrome characterized mainly by brain abnormalities, extra digits and a excess fluid inside the skull....more »
    2312. Megarbane syndrome
     A very rare disorder characterized by short stature, loose joints, hernias, facial abnormalities and severe psychomotor retardation....more »
    2313. Megarbane-Jalkh Syndrome
     A rare condition reported in two related infants and involving a range of abnormalities such as developmental delay, unusual facial features, wrinkled skin, liver failure and fragile bones. One of the infants died before the age of 2 years due to liver fa...more »
    2314. Megarbane-Loiselet syndrome
     A rare syndrome characterized mainly by deafness and branchial anomalies....more »
    2315. Mehes syndrome
     A very rare syndrome characterized mainly by delayed speech, an asymmetrical face, crossed eyes and ear lobe creases....more »
    2316. Meier-Rotschild syndrome
     A rare disorder characterized mainly by short stature, small ears and absent kneecaps....more »
    2317. Meige syndrome
     A neurological movement disorder involving symptoms such as involuntary facial movements and eye muscle spasms....more »
    2318. Meigel Disease
     A rare connective tissue disorder characterized by abnormal collagen which has abnormal alpha-2 chains....more »
    2319. Melanoma -- astrocytoma syndrome
     A rare syndrome characterized by the association of a melanoma with a type of brain tumor called an astrocytoma. The exact symptoms may vary depending on the exact location of the brain tumor....more »
    2320. Melhem-Fahl syndrome
     A very rare syndrome characterized mainly by an abnormal number of ribs and vertebrae....more »
    2321. Melioidosis
     Bacterial infection from soil or water....more »
    2322. Melnick-Needles syndrome
     A rare genetic bone disorder characterized by skeletal abnormalities and characteristic facial abnormalities....more »
    2323. Melorheostosis
     A rare bone disorder involving overgrowth of the outer layer of bone in a linear pattern similar to wax dripping down the side of a candle. Usually one or more bones of a limb are affected....more »
    2324. Meningococcal infection
     A rare infectious disease caused by a bacterium called Neisseria meningitides....more »
    2325. Meningococcemia
     A rare infectious disease whose main symptoms are upper respiratory tract infection, fever, rash and eye and ear problems....more »
    2326. Meniscus injury
     Knee damage often from trauma or injury...more »
    2327. Menkes Disease
     Genetic disease of copper deficiency....more »
    2328. Menopause
     The end of female menstruation and fertility....more »
    2329. Mental Retardation -- Pterygia -- Shortness -- Distinctive Facial Appearance
     A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies....more »
    2330. Mental Retardation, Joint Hypermobility With or without Metabolic Abnormalities
     A rare syndrome observed in a small number of patients and characterized by the association of mental retardation, loose joints. Metabolic abnormalities occur in only some patients....more »
    2331. Mental mixed retardation -- deafness -- clubbed digits
     A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers....more »
    2332. Mental mixed retardation deafnes clubbed digits
     A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers....more »
    2333. Mental retardation -- anophthalmia -- craniosynostosis
     A very rare syndrome characterized mainly by mental retardation, absent eyes and premature fusion of skull bones....more »
    2334. Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia
     A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia)....more »
    2335. Mental retardation -- blepharophimosis -- obesity -- web neck
     A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck....more »
    2336. Mental retardation -- coloboma -- slimness
     A very rare syndrome characterized mainly by mental retardation, retinal coloboma and a slim build....more »
    2337. Mental retardation -- contractural arachnodactyly
     A rare disorder characterized mainly by the association of mental retardation with long thin fingers which were permanently flexed....more »
    2338. Mental retardation -- dysmorphism -- hypogonadism -- diabetes
     A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities....more »
    2339. Mental retardation -- hip luxation -- G6PD variant
     A very rare syndrome characterized mainly by mental retardation, partially dislocated hips and an enzyme defect (G6PD)....more »
    2340. Mental retardation -- hypotonic facies syndrome, X-linked, 1
     A group of rare syndromes characterized by severe mental retardation, unusual facial appearance and other variable abnormalities....more »
    2341. Mental retardation -- macrocephaly -- coarse facies -- hypotonia
     A very rare syndrome characterized mainly by mental retardation, large head, coarse face and reduced muscle tone....more »
    2342. Mental retardation -- microcephaly -- phalangeal -- facial abnormalities
     A very rare syndrome characterized mainly by mental retardation, small head, facial and bone abnormalities in the fingers and toes....more »
    2343. Mental retardation -- myopathy -- short stature -- endocrine defect
     A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects....more »
    2344. Mental retardation -- short stature -- absent phalanges
     A very rare, recessively inherited syndrome characterized mainly by mental retardation, short stature and missing finger bones....more »
    2345. Mental retardation -- short stature -- cleft palate -- unusual facies
     A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies....more »
    2346. Mental retardation -- short stature -- deafness -- genital
     A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities....more »
    2347. Mental retardation -- short stature -- hand contractures -- genital anomalies
     A very rare syndrome characterized mainly by mental retardation, short stature, hand contractures and genital abnormalities....more »
    2348. Mental retardation -- short stature -- heart and skeletal anomalies
     A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies....more »
    2349. Mental retardation -- short stature -- microcephaly -- eye anomalies
     A very rare syndrome characterized mainly by mental retardation, short stature, small head and eye abnormalities. It has only been reported in one family....more »
    2350. Mental retardation -- short stature -- scoliosis
     A very rare syndrome characterized mainly by mental retardation, short stature and scoliosis....more »
    2351. Mental retardation -- short stature -- unusual facies
     A very rare syndrome characterized mainly by mental retardation, short stature and an unusual facial appearance....more »
    2352. Mental retardation -- short stature, Bombay phenotype
     A very rare syndrome characterized mainly by mental retardation, short stature and a blood abnormality....more »
    2353. Mental retardation -- skeletal dysplasia -- abducens palsy
     A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and weakness of an eye muscle....more »
    2354. Mental retardation -- spasticity -- ectrodactyly
     A very rare syndrome characterized mainly by mental retardation, spasticity and a cleft hand. In the reported case, the parents came from the same bloodline....more »
    2355. Mental retardation -- unusual facies -- talipes -- hand anomalies
     A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities....more »
    2356. Mental retardation X-linked -- psychosis -- macroorchidism
     A rare syndrome characterized by mental retardation, psychosis and abnormally lartge testes. The syndrome is inherited in a X-linked manner....more »
    2357. Mental retardation X-linked dysmorphism
     A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities....more »
    2358. Mental retardation X-linked short stature obesity
     A rare condition in herited in a X-linked manner and characterized by short stature, obesity and mental retardation. Various other anomalies may also be present....more »
    2359. Mental retardation X-linked syndromic 7
     A very rare syndrome characterized mainly by mental retardation, obesity, hypogonadism and tapered fingers....more »
    2360. Mental retardation X-linked, South African type
     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....more »
    2361. Mental retardation athetosis microphthalmia
     A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder....more »
    2362. Mental retardation 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 »
    2363. Mental retardation syndrome, Belgian type
     A rare form of mental retardation reported in a Belgian family....more »
    2364. Mental retardation unusual facies ampola type
     A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities....more »
    2365. Mental retardation, Buenos Aires type
     A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects....more »
    2366. Mental retardation, Microcephaly, Epilepsy and Ataxia Syndrome
     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 »
    2367. Mental retardation, Mietens-Weber type
     A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism....more »
    2368. Mental retardation, Smith-Fineman-Myers type
     A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone....more »
    2369. Mental retardation, Wolff type
     A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline....more »
    2370. Mental retardation, X-linked -- Dandy Walker malformation -- Basal ganglia disease -- Seizures
    2371. Mental retardation, X-linked -- acromegaly -- hyperactivity
     A rare syndrome characterized mainly by mental retardation, hyperactivity and enlarged hands, feet and testes....more »
    2372. Mental retardation, X-linked -- craniofacial dysmorphology -- epilepsy -- ophthalmoplegia -- cerebellar atrophy
     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 »
    2373. Mental retardation, X-linked -- cubitus valgus -- typical face
     A rare disorder characterized by mental retardation, unusual facial appearance and a turned out elbow (cubitus valgus). The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers m...more »
    2374. Mental retardation, X-linked -- gynecomastia -- obesity
     A rare disorder characterized by mental retardation, obesity, enlarged male breasts, speech problems and other anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers...more »
    2375. Mental retardation, X-linked -- hypogammaglobulinemia -- progressive neurological deterioration
     A rare X-linked disorder characterized by mental retardation, progressive neurological deterioration and low blood levels of gammaglobulins. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms wher...more »
    2376. Mental retardation, X-linked -- hypogonadism -- ichthyosis -- obesity -- short stature
     A rare X-linked disorder characterized by mental retardation, obesity, short stature, hypogonadism and a skin disorder. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers m...more »
    2377. Mental retardation, X-linked -- hypotonia -- facial dysmorphism -- aggressive behavior
     A rare X-linked disorder characterized by mental retardation, reduced muscle tone, aggressive behavior and unusual facial appearance. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas fem...more »
    2378. Mental retardation, X-linked -- seizures -- psoriasis
     A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder....more »
    2379. Mental retardation, X-linked syndromic 12
     A syndromic form of mental retardation which also involves mutism, retarded growth, seizures and frequent infections. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may...more »
    2380. Mental retardation, X-linked syndromic 14
     A syndromic form of mental retardation which also involves variable features including poorly muscled build and facial anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female ...more »
    2381. Mental retardation, X-linked with brachydactyly and macroglossia
     A syndromic form of mental retardation which also involves short digits and an enlarged tongue. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no sympt...more »
    2382. Mental retardation, X-linked, 2
     A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect on chromosome Xp22.3. Mental retardation was mild to moderate....more »
    2383. Mental retardation, X-linked, 45
     A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the zinc finger protein-81 gene on chromosome Xp22.1-p11....more »
    2384. Mental retardation, X-linked, 93
     A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the BRWD3 gene. Female carriers may also suffer from some mental deficiency....more »
    2385. Mental retardation, X-linked, Armfield type
     A rare disorder characterized by mental retardation, seizures, short stature, small hands and small feet. The disorder is X-linked and hence only males exhibit the symptoms. The genetic defect occurs on chromosome Xq28....more »
    2386. Mental retardation, X-linked, Brooks type
     A rare syndrome characterized by mental retardation, unusual facial appearance and retarded growth....more »
    2387. Mental retardation, X-linked, Cabezas type
     A rare X-linked disorder characterized by mental retardation, muscle wasting, short stature and other problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have ...more »
    2388. Mental retardation, X-linked, Raynaud type
     A rare disorder characterized by mental retardation, growth hormone deficiency, short stature, small head and a peculiar face. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female car...more »
    2389. Mental retardation, X-linked, Reish type
     A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems....more »
    2390. Mental retardation, X-linked, Shrimpton type
     A rare X-linked disorder characterized by mental retardation, small head, strabismus and short stature. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or ...more »
    2391. Mental retardation, X-linked, Siderius type
     A rare inherited form of mental retardation involving a defect on chromosome Xp11.2....more »
    2392. Mental retardation, X-linked, Stevenson type
     A rare disorder characterized by mental retardation, reduced muscle tone and other anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptom...more »
    2393. Mental retardation, X-linked, Stoll type
     A rare disorder characterized by mental retardation, short stature and unusual facial appearance. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no sym...more »
    2394. Mental retardation, X-linked, Vitale type
     A rare disorder characterized by mental retardation and facial and skeletal anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The ...more »
    2395. Mental retardation, X-linked, Wittwer type
     A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers ma...more »
    2396. Mental retardation, X-linked, syndromic, due to JARID1C mutation
     A rare disorder characterized by mental retardation, spasticity and other variable features. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms...more »
    2397. Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
     A very rare syndrome characterized by moderate to severe mental retardation, unusual facial appearance and an underdeveloped brain....more »
    2398. Mental retardation, X-linked, with isolated growth hormone deficiency
     A rare disorder characterized by severe mental retardation and growth hormone deficiency. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms....more »
    2399.