Aa-Ab

• Aagenaes syndrome
  Aagenaes syndrome
  A syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts....
  
  
• Aarskog Ose Pande syndrome
• Aarskog syndrome
• Aase Smith syndrome
• Aase syndrome
  Aase syndrome
  Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal recessive inherited disorder. The genetic basis of the disease is not known...
  
  
• ABCD syndrome
  ABCD syndrome
  ABCD syndrome is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness. It has been found to be caused by mutation in the endothelin B receptor gene .-Classification:...
  
  
• Abasia
  Abasia
  Abasia is the inability to walk due to impaired muscle coordination. The term covers a spectrum of medical disorders such as:* choreic abasia: caused by chorea of the legs...
  
  
• Abdallat Davis Farrage syndrome
  Abdallat Davis Farrage syndrome
  Abdallat Davis Farrage syndrome is a phakomatosis consisting of disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy...
  
  
• Abdominal aortic aneurysm
  Abdominal aortic aneurysm
  Abdominal aortic aneurysm is a localized dilatation of the abdominal aorta exceeding the normal diameter by more than 50 percent, and is the most common form of aortic aneurysm...
  
  
• Abdominal cystic lymphangioma
• Abdominal defects
• Abdominal musculature absent microphthalmia joint laxity
  Abdominal musculature absent microphthalmia joint laxity
  Abdominal Musculature Absent with Microphthalmia and Joint Laxity is a rare human disorder characterized mainly by Ligamentous laxity, small eyes; a lack of abdominal muscles and facial anomalies.-References:*...
  
  
• Abdominal neoplasm / Abdominal neoplasms
• Aberrant subclavian artery
  Aberrant subclavian artery
  Aberrant subclavian artery, or aberrant subclavian artery syndrome refers to a rare anatomical variant of the origin of the right or left subclavian artery...
  
  
• Ablepharon macrostomia syndrome
  Ablepharon macrostomia syndrome
  Ablepharon macrostomia syndrome is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals...
  
  
• Abnormal systemic venous return
• Abruzzo Erickson syndrome
  Abruzzo Erickson syndrome
  Some characteristics of Abruzzo Erickson syndrome include deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, and short stature.It was characterized in 1977....
  
  
• Absence of Gluteal muscle
  Absence of gluteal muscle
  The congenital absence of the gluteal muscle was described in 1976, as occurring in a brother and sister with absence of gluteal muscles and with spina bifida occulta. It was thought to be caused by an autosomal recessive gene....
  
  
• Absence of tibia with polydactyly
• Absent corpus callosum cataract immunodeficiency
• Absent T lymphocytes

Aca-Acc

• Acalvaria
  Acalvaria
  Acalvaria is a rare malformation consisting of absence of the calvarial bones, dura mater and associated muscles in the presence of a normal skull base and normal facial bones. The central nervous system is usually unaffected....
  
  
• Acanthocheilonemiasis
  Acanthocheilonemiasis
  Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans. It can cause skin rashes, abdominal and chest pains, muscle and joint pains, neurologic disorders and skin lumps. It is mainly found in Africa. The parasite is transmitted through...
  
  
• Acanthocytosis chorea
• Acanthocytosis
  Acanthocyte
  Acanthocyte, in human biology and medicine, refers to a form of red blood cell that are spiked, or possess various abnormal thorny projections. Acanthocytosis is the condition with acanthocyte-like red blood cells....
  
  
• Acanthosis nigricans
  Acanthosis nigricans
  Acanthosis nigricans is a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the axilla, groin, umbilicus, forehead, and other areas.-Causes:...
  
  
• Acatalasemia
• Accessory deep peroneal nerve
• Accessory Navicular bone
  Accessory navicular bone
  An accessory navicular bone is an accessory bone of the foot that occasionally develops abnormally in front of the ankle towards the inside of the foot. This bone may be present in approximately 2.5% of the general population and is usually asymptomatic...
  
  
• Accessory pancreas
  Accessory pancreas
  Accessory pancreas is a rare condition in which small groups of pancreatic cells are separate from the pancreas. They may occur in the mesentery of the small intestine, the wall of the duodenum, the upper part of the jejunum, or more rarely, in the wall of the stomach, ileum, gallbladder or spleen...
  
  

Ach-Ack

• Achalasia alacrimia syndrome
• Achalasia microcephaly
• Achalasia, familial esophageal
• Achalasia
  Achalasia
  Achalasia , also known as esophageal achalasia, achalasia cardiae, cardiospasm, and esophageal aperistalsis, is an esophageal motility disorder involving the smooth muscle layer of the esophagus and the lower esophageal sphincter...
  
  
• Achalasia-Addisonianism-Alacrimia syndrome
• Achard syndrome
  Achard syndrome
  Achard syndrome is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity...
  
  
• Achard-Thiers syndrome
  Achard-Thiers syndrome
  Achard–Thiers syndrome combines the features of Adrenogenital syndrome and Cushing syndrome. It is also known as diabetic-bearded woman syndrome .The disease is named for Emile Achard and Joseph Thiers.-Clinical features:...
  
  
• Acheiropodia
  Acheiropodia
  Acheiropodia , also known as Horn-Kolb Syndrome, Acheiropody and Aleijadinhos , is an autosomal recessive disorder that results in hemimelia, a lack of formation of the distal extremities....
  
  
• Achondrogenesis Kozlowski type
• Achondrogenesis type 1A
• Achondrogenesis type 1B
  Achondrogenesis type 1B
  Achondrogenesis, type 1B is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inward...
  
  
• Achondrogenesis type 2
  Achondrogenesis type 2
  Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Achondrogenesis, type 2 is a subtype of collagenopathy, types II and XI. This condition is also associated with a lack of bone formation in the spine and pelvis...
  
  
• Achondrogenesis
  Achondrogenesis
  Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia . These conditions are characterized by a small body, short limbs, and other skeletal abnormalities...
  
  
• Achondroplasia Swiss type agammaglobulinemia
• Achondroplasia
  Achondroplasia
  Achondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
  
  
• Achondroplastic dwarfism
• Achromatopsia incomplete, X-linked
• Achromatopsia
  Achromatopsia
  Achromatopsia , is a medical syndrome that exhibits symptoms relating to at least five separate individual disorders. Although the term may refer to acquired disorders such as color agnosia and cerebral achromatopsia, it typically refers to an autosomal recessive congenital color vision disorder,...
  
  
• Acid maltase deficiency
• Acidemia, isovaleric
• Acidemia, propionic
• Acitretine antenatal infection
• Ackerman syndrome
  Ackerman syndrome
  Ackerman syndrome is a familial syndrome of fused molar roots with a single canal , hypotrichosis, full upper lip without a cupid’s bow, thickened and wide philtrum, and occasional juvenile glaucoma....
  
  

Acn-Acq

• Acne rosacea
• Acne
  Acne vulgaris
  Acne vulgaris is a common human skin disease, characterized by areas of skin with seborrhea , comedones , papules , pustules , Nodules and possibly scarring...
  
  
• Acoustic neuroma
  Acoustic neuroma
  A vestibular schwannoma, often called an acoustic neuroma, is a benign primary intracranial tumor of the myelin-forming cells of the vestibulocochlear nerve . The term "vestibular schwannoma" involves the vestibular portion of the 8th cranial nerve and arises from Schwann cells, which are...
  
  
• Acoustic schwannomas
• Acquired agranulocytosis
• Acquired hypoprothrombinemia
• Acquired Immune Deficiency Syndrome
  AIDS
  Acquired immune deficiency syndrome or acquired immunodeficiency syndrome is a disease of the human immune system caused by the human immunodeficiency virus...
  
  
• Acquired ichthyosis
• Acquired prothrombin deficiency
• Acquired syphilis
• anger irritation syndrome[ais]

Acroc-Acrok

• Acrocallosal syndrome, Schinzel type
• Acrocephalopolydactyly
• Acrocephalosyndactyly Jackson Weiss type
• Acrocephaly
• Acrocephaly pulmonary stenosis mental retardation
• Acrocyanosis
  Acrocyanosis
  Acrocyanosis is persistent blue or cyanotic discoloration of the extremities, most commonly occurring in the hands, although it also occurs in the feet and distal parts of face....
  
  
• Acrodermatitis enteropathica
  Acrodermatitis enteropathica
  Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc, characterized by periorificial and acral dermatitis, alopecia , and diarrhea....
  
  
• Acrodermatitis
  Acrodermatitis
  Acrodermatitis is a form of dermatitis selectively affecting the hands and feet.Types include:* Acrodermatitis enteropathica* Acropustulosis** Acrodermatitis chronica atrophicans** Papular acrodermatitis of childhood** Dermatitis repens...
  
  
• Acrodysostosis
  Acrodysostosis
  Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, mental deficiency in approximately 90% of affected children, and peculiar facies...
  
  
• Acrodysplasia
• Acrodysplasia scoliosis
• Acrofacial dysostosis
• Acrofacial dysostosis ambiguous genitalia
• Acrofacial dysostosis atypical postaxial
• Acrofacial dysostosis Catania form
• Acrofacial dysostosis Preis type
• Acrofacial dysostosis Rodriguez type
• Acrofacial dysostosis Weyers type
• Acrofacial dysostosis, Nager type
• Acrofacial dysostosis, Palagonia type
• Acrokeratoelastoidosis of Costa
  Acrokeratoelastoidosis of Costa
  Acrokeratoelastoidosis of Costa is a familial condition characterized by multiple keratotic papules on the dorsum of the hands and feet, palms, soles, in which electron microscopy shows rarified, abnormal elastic tissue.It was characterized in 1953.Treatments such as liquid nitrogen, salicylic...
  
  

Acrom-Acros

• Acromegaloid changes cutis verticis gyrata corneal
• Acromegaloid facial appearance syndrome
• Acromegaloid hypertrichosis syndrome
• Acromegaly
  Acromegaly
  Acromegaly is a syndrome that results when the anterior pituitary gland produces excess growth hormone after epiphyseal plate closure at puberty...
  
  
• Acromesomelic dysplasia Brahimi Bacha type
• Acromesomelic dysplasia Campailla Martinelli type
• Acromesomelic dysplasia Hunter Thompson type
• Acromesomelic dysplasia, Maroteaux type
• Acromesomelic dysplasia
• Acromicric dysplasia
  Acromicric dysplasia
  Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities. Most cases have occurred randomly for no apparent reason...
  
  
• Acroosteolysis dominant type
• Acroosteolysis neurogenic
• Acroosteolysis osteoporosis skull and mandible changes
• Acropectoral syndrome
  Acropectoral syndrome
  Acropectoral syndrome is an autosomal dominant skeletal dysplasia syndrome affecting the hands, feet, sternum, and lumbosacral spine. A recently proposed candidate gene for preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor, which may be an upstream regulator of SHH...
  
  
• Acropectorenal field defect
• Acropectorovertebral dysplasia
• Acrophobia
  Acrophobia
  Acrophobia is an extreme or irrational fear of heights. It belongs to a category of specific phobias, called space and motion discomfort that share both similar etiology and options for treatment.Most people experience a degree of natural fear when exposed to heights, especially if there is little...
  
  
• Acropigmentation of Dohi
• Acrorenal syndrome recessive
• Acrorenoocular syndrome
• Acrospiroma
  Acrospiroma
  An acrospiroma is a tumor of the distal portion of a sweat gland. Acrospiromas are usually benign, and treatment consists of surgical excision....
  
  

Act

• ACTH deficiency
• ACTH resistance
• Atelectasis
  Atelectasis
  Atelectasis is defined as the collapse or closure of alveoli resulting in reduced or absent gas exchange. It may affect part or all of one lung. It is a condition where the alveoli are deflated, as distinct from pulmonary consolidation.It is a very common finding in chest x-rays and other...
  
  
• Actinic keratosis
  Actinic keratosis
  Actinic keratosis is a premalignant condition of thick, scaly, or crusty patches of skin. It is more common in fair-skinned people. It is associated with those who are frequently exposed to the sun, as it is usually accompanied by solar damage...
  
  
• Actinomycetales causes anal infection
• Actinomycosis
  Actinomycosis
  Actinomycosis is an infectious bacterial disease caused by Actinomyces species such as Actinomyces israelii or A. gerencseriae. It can also be caused by Propionibacterium propionicus, and the condition is likely to be polymicrobial aerobic anaerobic infection.Actinomycosis occurs rarely in humans...
  
  
• Activated protein C resistance
  Activated protein C resistance
  Activated protein C resistance is a hemostatic disorder characterized by a poor anticoagulant response to activated protein C . This results in an increased risk of venous thrombosis, which can cause heart attacks, strokes, and other problems with circulation.The disorder can be acquired or...
  
  

Acute a-Acute l

• Acute anxiety
• Acute articular rheumatism
• Acute erythroblastic leukemia
• Acute febrile neutrophilic dermatosis
• Acute gouty arthritis
• Acute idiopathic polyneuritis
• Acute intermittent porphyria
  Acute intermittent porphyria
  Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
  
  
• Acute lymphoblastic leukemia congenital sporadic aniridia
• Acute lymphoblastic leukemia
  Acute lymphoblastic leukemia
  Acute lymphoblastic leukemia is a form of leukemia, or cancer of the white blood cells characterized by excess lymphoblasts.Malignant, immature white blood cells continuously multiply and are overproduced in the bone marrow. ALL causes damage and death by crowding out normal cells in the bone...
  
  
• Acute lymphocytic leukemia

Acute m-Acute p

• Acute megakaryoblastic leukemia
  Acute megakaryoblastic leukemia
  Acute megakaryoblastic leukemia is a form of leukemia where a majority of the blasts are megakaryoblastic.It is classified under M7 in the French-American-British classification....
  
  
• Acute monoblastic leukemia
• Acute monocytic leukemia
  Acute monocytic leukemia
  Acute monocytic leukemia is considered a type of acute myeloid leukemia.-Diagnosis:In order to fulfill World Health Organization criteria for AML-5, a patient must have greater than 20% blasts in the bone marrow, and of these, greater than 80% must be of the monocytic lineage...
  
  
• Acute mountain sickness
• Acute myeloblastic leukemia type 1
• Acute myeloblastic leukemia type 2
• Acute myeloblastic leukemia type 3
• Acute myeloblastic leukemia type 4
• Acute myeloblastic leukemia type 5
• Acute myeloblastic leukemia type 6
• Acute myeloblastic leukemia type 7
• Acute myeloblastic leukemia with maturation
  Acute myeloblastic leukemia with maturation
  M2 is a subtype of AML .It is also known as "Acute Myeloblastic Leukemia with Maturation".-Cause:This subtype is characterized by a translocation of a part of chromosome 8 to chromosome 21, written as t...
  
  
• Acute myeloblastic leukemia without maturation
  Acute myeloblastic leukemia without maturation
  Acute myeloblastic leukemia without maturation is a quickly progressing disease in which too many immature white blood cells are found in the blood and bone marrow.It is classified as "M1" in the FAB classification.- External links :...
  
  
• Acute myelocytic leukemia
• Acute myelogenous leukemia
• Acute myeloid leukemia (generic term)
• Acute myeloid leukemia, secondary
• Acute myelomonocytic leukemia
  Acute myelomonocytic leukemia
  Acute myelomonocytic leukemia is a form of acute myeloid leukemia that involves a proliferation of CFU-GM myeloblasts and monoblasts.It is classified under "M4" in the French-American-British classification ....
  
  
• Acute necrotizing ulcerative gingivitis
• Acute non lymphoblastic leukemia (generic term)
• Acute pancreatitis
  Acute pancreatitis
  Acute pancreatitis or acute pancreatic necrosis is a sudden inflammation of the pancreas. It can have severe complications and high mortality despite treatment...
  
  
• Acute posterior multifocal placoid pigment epitheliopathy
  Acute posterior multifocal placoid pigment epitheliopathy
  Acute Posterior Multifocal Placoid Pigment Epitheliopathy is a chorioretinal diseasein which light-coloured lesions begin to form in the posterior pole and inside the retina of the eye. Over time, the lesions cause vision loss that can go from mild to severe, but with no pain involved...
  
  
• Acute promyelocytic leukemia
  Acute promyelocytic leukemia
  Acute promyelocytic leukemia is a subtype of acute myelogenous leukemia , a cancer of the blood and bone marrow. It is also known as acute progranulocytic leukemia; APL; AML with t, PML-RARA and variants; FAB subtype M3 and M3 variant.In APL, there is an abnormal accumulation of immature...
  
  

Acute r-Acute t

• Acute renal failure
  Acute renal failure
  Acute kidney injury , previously called acute renal failure , is a rapid loss of kidney function. Its causes are numerous and include low blood volume from any cause, exposure to substances harmful to the kidney, and obstruction of the urinary tract...
  
  
• Acute respiratory distress syndrome
  Acute respiratory distress syndrome
  Acute respiratory distress syndrome , also known as respiratory distress syndrome or adult respiratory distress syndrome is a serious reaction to various forms of injuries to the lung....
  
  
• Acute tubular necrosis
  Acute tubular necrosis
  Acute tubular necrosis or is a medical condition involving the death of tubular cells that form the tubule that transports urine to the ureters while reabsorbing 99% of the water . Tubular cells continually replace themselves and if the cause of ATN is removed then recovery is likely...
  
  

Acy

• Acyl-CoA dehydrogenase, medium chain, deficiency of
• Acyl-CoA dehydrogenase, short chain, deficiency of
• Acyl-CoA dehydrogenase, very long chain, deficiency of
• Acyl-CoA oxidase deficiency

Ada-Adi

• Adactylia unilateral dominant
• Adam complex familial
• Adams Nance syndrome
  Adams Nance syndrome
  Adams Nance syndrome is a medical condition consisting of persistent tachycardia, paroxymal hypertension and seizures. It is associated with hyperglycinuria, dominantly inherited microphthalmia and cataracts. It is thought to be caused by a disturbance in glycine metabolism....
  
  
• Adams-Oliver syndrome
  Adams-Oliver syndrome
  Adams–Oliver syndrome is a rare congenital disorder characterized by defects of the scalp and cranium , transverse defects of the limbs, and mottling of the skin.- Characteristics :...
  
  
• Addison's disease
  Addison's disease
  Addison’s disease is a rare, chronic endocrine disorder in which the adrenal glands do not produce sufficient steroid hormones...
  
  
• Adducted thumb club foot syndrome
• Adducted thumb syndrome recessive form
• Adducted thumbs Dundar type
• Adenine phosphoribosyltransferase deficiency
• Adenocarcinoid tumor
• Adenocarcinoma of lung
• Adenocarcinoma of Esophagus
• Adenoid cystic carcinoma
  Adenoid cystic carcinoma
  Adenoid cystic cancer is a rare type of cancer that can exist in many different body sites. It most often occurs in the areas of the head and neck, in particular the salivary glands; but has also been reported in the breast, lacrimal gland of the eye, lung, brain, bartholin gland, trachea, and...
  
  
• Adenoma of the adrenal gland
• Adenoma
  Adenoma
  An adenoma is a benign tumor of glandular origin. Adenomas can grow from many organs including the colon, adrenal glands, pituitary gland, thyroid, prostate, etc. Although these growths are benign, over time they may progress to become malignant, at which point they are called adenocarcinomas...
  
  
• Adenomelablastoma
• Adenomyosis
  Adenomyosis
  Adenomyosis is a medical condition characterized by the presence of ectopic glandular tissue found in muscle. The term adenomyosis is derived from the terms adeno- , myo- , and -osis...
  
  
• Adenosine deaminase deficiency
  Adenosine deaminase deficiency
  Adenosine deaminase deficiency, also called ADA deficiency or ADA-SCID, is an autosomal recessive metabolic disorder that causes immunodeficiency. It occurs in fewer than one in 100,000 live births worldwide....
  
  
• Adenosine monophosphate deaminase deficiency
• Adenosine triphosphatase deficiency, anemia due to
• Adenylosuccinate lyase deficiency
  Adenylosuccinate lyase deficiency
  Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside and succinyladenosine in cerebrospinal fluid, urine, and to a lesser extent in plasma.These...
  
  
• Adie syndrome
  Adie syndrome
  Adie syndrome, sometimes known as Holmes-Adie's syndrome or Adie's Tonic Pupil, is a neurological disorder characterized by a tonically dilated pupil. It is named after the British neurologist William John Adie...
  
  
• Adiposis dolorosa
  Adiposis dolorosa
  Adiposis dolorosa, also known as Dercum's Disease is a rare condition characterized by multiple, painful lipomas. These lipomas mainly occur on the trunk, the upper arms and upper legs. The diagnosis of Dercum's disease implies a long, chronic pain syndrome of debilitating nature...
  
   aka Dercum's disease

Ado-Adr

• Adolescent benign focal crisis
• Adrenal adenoma, familial
• Adrenal cancer
• Adrenal disorder
• Adrenal gland hyperfunction
• Adrenal gland hypofunction
• Adrenal hyperplasia, congenital
• Adrenal hyperplasia
• Adrenal hypertension
• Adrenal hypoplasia congenital, X-linked
• Adrenal hypoplasia
• Adrenal incidentaloma
• Adrenal insufficiency
  Adrenal insufficiency
  Adrenal insufficiency is a condition in which the adrenal glands, located above the kidneys, do not produce adequate amounts of steroid hormones , primarily cortisol, but may also include impaired aldosterone production which regulates sodium, potassium and water retention...
  
  
• Adrenal macropolyadenomatosis
• Adrenal medulla neoplasm
• Adrenocortical carcinoma
  Adrenocortical carcinoma
  Adrenocortical carcinoma, also adrenal cortical carcinoma and adrenal cortex cancer, is an aggressive cancer originating in the cortex of the adrenal gland. Adrenocortical carcinoma is a rare tumor, with incidence of 1-2 per million population annually...
  
  
• Adrenogenital syndrome
• Adrenoleukodystrophy, autosomal, neonatal form
• Adrenoleukodystrophy, X-linked
• Adrenoleukodystrophy
  Adrenoleukodystrophy
  Adrenoleukodystrophy is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies, whose chief feature is damage to myelin...
  
  
• Adrenomyodystrophy

Adu

• Adult onset Still's disease
• Adult Spinal Muscular Atrophy
• Adult syndrome
• Advanced sleep phase syndrome
  Advanced sleep phase syndrome
  Advanced sleep phase syndrome , also known as the advanced sleep-phase type of circadian rhythm sleep disorder, is a condition in which patients feel very sleepy and go to bed early in the evening and wake up very early in the morning Advanced sleep phase syndrome (ASPS), also known as the...
  
  

Ae-Ah

• Afibrinogenemia
• Agammaglobulinemia
• Aganglionosis
• Aganglionosis, total intestinal
• Aging
  Senescence
  Senescence or biological aging is the change in the biology of an organism as it ages after its maturity. Such changes range from those affecting its cells and their function to those affecting the whole organism...
  
  
• Aggressive fibromatosis
• Agnathia
• Agnathia holoprosencephaly situs inversus
• Agnosia, primary visual
• Agoraphobia
  Agoraphobia
  Agoraphobia is an anxiety disorder defined as a morbid fear of having a panic attack or panic-like symptoms in a situation from which it is perceived to be difficult to escape. These situations can include, but are not limited to, wide-open spaces, crowds, or uncontrolled social conditions...
  
  
• Agyria
• Agyria pachygyria polymicrogyria
• Agyria-pachygyria type 1
• Ahumada-Del Castillo syndrome

Ai-Ak

• Aicardi syndrome
  Aicardi syndrome
  Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms...
  
  
• Aicardi-Goutières syndrome
  Aicardi-Goutieres syndrome
  Aicardi–Goutières syndrome is a rare genetic disorder. It is also known as Cree encephalitis and pseudo-TORCH syndrome, both of which were once considered separate disorders. It is a type of leukodystrophy and is usually fatal within the first few years...
  
  
• Aichmophobia
  Aichmophobia
  Aichmophobia is a kind of specific phobia, the morbid fear of sharp things, such as pencils, needles, knives, a pointing finger, or even the sharp end of an umbrella. It is derived from the Greek aichmē and phobos ....
  
  
• AIDS
  AIDS
  Acquired immune deficiency syndrome or acquired immunodeficiency syndrome is a disease of the human immune system caused by the human immunodeficiency virus...
  
  
• AIDS Dementia Complex
  AIDS dementia complex
  AIDS dementia complex is a common neurological disorder associated with HIV infection and AIDS. It is a metabolic encephalopathy induced by HIV infection and fueled by immune activation of brain macrophages and microglia...
  
  
• AIDS dysmorphic syndrome
• Ainhum
  Ainhum
  Ainhum is a painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation a few years later. The disease occurs predominantly in black Africans and their descendants...
  
  
• Akaba Hayasaka syndrome
• Akesson syndrome
• Aksu Stckhausen syndrome

Al

• Al Awadi Teebi Farag syndrome
• Al Frayh Facharzt Haque syndrome
• Al Gazali Al Talabani syndrome
• Al Gazali Aziz Salem syndrome
• Al Gazali Donnai Mueller syndrome
• Al Gazali Hirschsprung syndrome
• Al Gazali Khidr Prem Chandran syndrome
• Al Gazali Sabrinathan Nair syndrome

Ala-Alc

• Alagille-Watson syndrome (AWS)
• Alar nasal cartilages coloboma of telecanthus
• Albers-Schonberg disease
• Albinism deafness syndrome
• Albinism immunodeficiency
• Albinism ocular late onset sensorineural deafness
• Albinism oculocutaneous, Hermansky-Pudlak type
• Albinism, minimal pigment type
• Albinism, ocular
• Albinism, yellow mutant type
• Albinism
  Albinism
  Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
  
  
• Albinoidism
• Albrecht Schneider Belmont syndrome
• Albright Turner Morgani syndrome
• Albright's hereditary osteodystrophy
  Albright's hereditary osteodystrophy
  Albright’s hereditary osteodystrophy is form of osteodystrophy, otherwise known as Pseudohypoparathyroidism type 1a.-Characteristics:The disorder is characterized by a lack of responsiveness to parathyroid hormone, resulting in low serum calcium, high serum phosphate, and appropriately high serum...
  
  
• Albright's syndrome
• Alcaptonuria
• Alcohol antenatal infection
• Alcohol fetopathy
• Alcoholic hepatitis
  Alcoholic hepatitis
  Alcoholic hepatitis is hepatitis due to excessive intake of alcohol. While distinct from cirrhosis, it is regarded as the earliest stage of alcoholic liver disease. Symptoms are jaundice, ascites , fatigue and hepatic encephalopathy...
  
  
• Alcoholic liver cirrhosis

Ald-All

• Aldolase A deficiency
  Aldolase A deficiency
  Aldolase A deficiency, also called ALDOA deficiency and red cell aldolase deficiency, is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A, which is found predominantly in muscle and red blood cells. It may lead to myopathy, exercise intolerance and...
  
  
• Aldred syndrome
• Aleukemic leukemia cutis
• Alexander disease
  Alexander disease
  Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
  
  
• Alien hand syndrome
  Alien hand syndrome
  Alien hand syndrome is a neurological disorder in which the afflicted person's hand appears to take on a mind of its own...
  
  
• Alkaptonuria
  Alkaptonuria
  Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
  
  
• Allain Babin Demarquez syndrome
• Allan Herndon syndrome
• Allanson Pantzar McLeod syndrome
• Allergic angiitis
• Allergic autoimmune thyroiditis
• Allergic bronchopulmonary aspergillosis
  Allergic bronchopulmonary aspergillosis
  In medicine, allergic bronchopulmonary aspergillosis is a condition characterised by an exaggerated response of the immune system to the fungus Aspergillus . It occurs most often in patients with asthma or cystic fibrosis...
  
  
• Allergic encephalomyelitis

Alo

• Aloi Tomasini Isaia syndrome
• Alopecia
  Alopecia
  Alopecia means loss of hair from the head or body. Alopecia can mean baldness, a term generally reserved for pattern alopecia or androgenic alopecia. Compulsive pulling of hair can also produce hair loss. Hairstyling routines such as tight ponytails or braids may induce Traction alopecia. Both...
  
  
• Alopecia anosmia deafness hypogonadism syndrome
• Alopecia areata
  Alopecia areata
  Alopecia areata is a medical condition in which hair is lost from some or all areas of the body, usually from the scalp. Because it causes bald spots on the scalp, especially in the first stages, it is sometimes called spot baldness. In 1–2% of cases, the condition can spread to the entire scalp ...
  
  
• Alopecia congenita keratosis palmoplantaris
• Alopecia contractures dwarfism mental retardation
  Alopecia contractures dwarfism mental retardation
  Alopecia contractures dwarfism mental retardation or ACD mental retardation syndrome is a developemental disorder which causes mainly baldness and dwarfism in combination with intellectual disability; skeletal anomalies, caries and nearsightedness are also typical.The ACD mental retardation...
  
  
• Alopecia epilepsy oligophrenia syndrome of Moynahan
• Alopecia hypogonadism extrapyramidal disorder
• Alopecia immunodeficiency
• Alopecia macular degeneration growth retardation
• Alopecia mental retardation hypogonadism
• Alopecia mental retardation syndrome
• Alopecia totalis
  Alopecia totalis
  Alopecia totalis is the loss of all head hair. Its causes are unclear, but it is currently believed to be an autoimmune disorder. Stress is sometimes thought to be a contributor in alopecia areata...
  
  
• Alopecia universalis onychodystrophy vitiligo
• Alopecia universalis
  Alopecia universalis
  Alopecia universalis or alopecia areata universalis is a medical condition involving rapid loss of all hair, including eyebrows and eyelashes. It is the most severe form of alopecia areata, with an incidence of .001%...
  
  
• Alopecia, epilepsy, pyorrhea, mental subnormality

Alp-Alz

• Alpers disease
• Alpha 1-antitrypsin deficiency
  Alpha 1-antitrypsin deficiency
  Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin , leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells...
  
  
• Alpha-2 deficient collagen disease
• Alpha-ketoglutarate dehydrogenase deficiency
• Alpha-L-iduronidase deficiency
• Alpha-mannosidosis
  Alpha-mannosidosis
  Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase . In humans it is known to be caused by an autosomal recessive genetic mutation...
  
  
• Alpha-sarcoglycanopathy
• Alpha-thalassemia
  Alpha-thalassemia
  Alpha-thalassemia is a form of thalassemia involving the genes HBA1 and HBA2. Alpha-thalassemia is due to impaired production of 1,2,3, or 4 alpha globin chains, leading to a relative excess of beta globin chains...
  
  
• Alpha-thalassemia-abnormal morphogenesis
• Alport syndrome macrothrombocytopenia
• Alport syndrome, dominant type
• Alport syndrome, recessive type
• Alport syndrome
  Alport syndrome
  Alport syndrome or hereditary nephritis is a genetic disorder characterized by glomerulonephritis, endstage kidney disease, and hearing loss. Alport syndrome can also affect the eyes . The presence of blood in the urine is almost always found in this condition.It was first identified in a British...
  
  
• Alstrom's syndrome
• Alternating hemiplegia of childhood
  Alternating hemiplegia of childhood
  Alternating hemiplegia of childhood is a rare neurological disorder of uncertain etiology, which is named for the transient episodes, often referred to as attacks, of hemiplegia from which those with the disorder suffer. These hemiplegic attacks can cause anything from mild weakness to complete...
  
  
• Alternating hemiplegia
  Alternating hemiplegia
  Alternating hemiplegia refers to a form of hemiplegia that has an ipsilateral and contralateral presentation in different parts of the body. The disorder is characterized by recurrent episodes of paralysis on one side of the body. This type of syndrome can result from a unilateral lesion in the...
  
  
• Aluminium lung
• Alveolar Capillary Dysplasia
  Alveolar capillary dysplasia
  Alveolar capillary dysplasia is a very rare congenital malformation involving abnormal development of the capillary vascular system around the alveoli of the lungs. It is a rare cause of persistent pulmonary hypertension in infants. It also may be a rare cause of pulmonary hypoplasia. The...
  
  
• Alveolar echinococcosis
• Alveolar soft part sarcoma
  Alveolar soft part sarcoma
  Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft tissue sarcoma, that grows slowly and whose cell of origin is unknown.It arises mainly in children and young adults...
  
  
• Alveolitis, extrinsic allergic
• Alves Dos Santos Castello syndrome
• Alzheimer's disease
  Alzheimer's disease
  Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
  
  
• Alzheimer disease, familial

Ama-Amy

• Amaurosis
  Amaurosis
  Amaurosis is vision loss or weakness that occurs without an apparent lesion affecting the eye. It may result from either a medical condition or from excess acceleration, as in flight...
  
  
• Amaurosis congenita of Leber, type 1
• Amaurosis congenita of Leber, type 2
• Amaurosis congenita of Leber
• Amaurosis hypertrichosis
• Amblyopia
  Amblyopia
  Amblyopia, also known as lazy eye, is a disorder of the visual system that is characterized by a vision deficiency in an eye that is otherwise physically normal, or out of proportion to associated structural abnormalities of the eye...
  
  
• Ambral syndrome
• Ambras syndrome
• Amegakaryocytic thrombocytopenia
• Amelia (birth defect)
  Amelia (birth defect)
  Amelia is the birth defect of lacking one or more limbs. It can also result in a shrunken or deformed limb. For example, a child might be born without an elbow or forearm. The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all...
  
  
• Amelia cleft lip palate hydrocephalus iris coloboma
• Amelia facial dysmorphism
• Amelia X linked
• Amelogenesis
  Amelogenesis
  Amelogenesis is the formation of enamel on teeth and occurs during the crown stage of tooth development after dentinogenesis, which is the formation of dentine. Although dentine must be present for enamel to be formed, it is also true that ameloblasts must be present in order for dentinogenesis to...
  
  
• Amelogenesis Imperfecta hypomaturation type
• Amelogenesis imperfecta local hypoplastic form
• Amelogenesis imperfecta nephrocalcinosis
• Amelogenesis imperfecta
  Amelogenesis imperfecta
  Amelogenesis imperfecta presents with abnormal formation of the enamel or external layer of teeth. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it...
  
  
• Ameloonychohypohidrotic syndrome
• Amenorrhea
• American trypanosomiasis
• Amyotrophic lateral sclerosis
  Amyotrophic lateral sclerosis
  Amyotrophic lateral sclerosis , also referred to as Lou Gehrig's disease, is a form of motor neuron disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input...
  
  

Ana-Ane

• Anaphylaxis
  Anaphylaxis
  Anaphylaxis is defined as "a serious allergic reaction that is rapid in onset and may cause death". It typically results in a number of symptoms including throat swelling, an itchy rash, and low blood pressure...
  
  
• Anaplastic thyroid cancer
  Anaplastic thyroid cancer
  Anaplastic thyroid cancer is a form of thyroid cancer which has a very poor prognosis due to its aggressive behavior and resistance to cancer treatments.-Presentation:...
  
  
• Andersen's disease
• Andre syndrome
• Androgen insensitivity syndrome (AIS)
  Androgen insensitivity syndrome
  Androgen insensitivity syndrome is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as...
  
  
• Anemia sideroblastic spinocerebellar ataxia
• Anemia, Diamond-Blackfan
• Anemia, Hypoplastic, Congenital
• Anemia, Pernicious
• Anemia, Sideroblastic
• Anemia
  Anemia
  Anemia is a decrease in number of red blood cells or less than the normal quantity of hemoglobin in the blood. However, it can include decreased oxygen-binding ability of each hemoglobin molecule due to deformity or lack in numerical development as in some other types of hemoglobin...
  
  
• Anencephaly spina bifida X linked
• Anencephaly
  Anencephaly
  Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp...
  
  
• Aneurysm of sinus of Valsalva
  Aneurysm of sinus of Valsalva
  Aneurysm of the aortic sinus, also known as the sinus of Valsalva, is comparatively rare. When present, it is usually in either the right or in the noncoronary sinus, rarely in the left Aneurysm of the aortic sinus, also known as the sinus of Valsalva, is comparatively rare. When present, it is...
  
  
• Aneurysm, intracranial berry
• Aneurysm
  Aneurysm
  An aneurysm or aneurism is a localized, blood-filled balloon-like bulge in the wall of a blood vessel. Aneurysms can commonly occur in arteries at the base of the brain and an aortic aneurysm occurs in the main artery carrying blood from the left ventricle of the heart...
  
  

Ang

• Angel shaped phalangoep
• Angiofollicular lymph hyperplasia
• Angioimmunoblastic lymphadenopathy with dysproteinemia
• Angiokeratoma mental retardation coarse face
• Angiolipoma
  Angiolipoma
  Angiolipoma is a subcutaneous nodule with vascular structure, having all other features of a typical lipoma. They are commonly painful....
  
  
• Angioma
  Angioma
  Angiomas are benign tumors derived from cells of the vascular or lymphatic vessel walls or derived from cells of the tissues surrounding these vessels....
  
  
• Angioma hereditary neurocutaneous
• Angiomatosis
  Angiomatosis
  Angiomatosis is a non-neoplastic condition presenting with little knots of capillaries in various organs. It consists of many angiomas. It is also known as Von Hippel-Lindau Disease and is a rare genetic multi system disorder characterized by the abnormal growth of tumours in the body...
  
  
• Angiomatosis encephalotrigeminal
• Angiomatosis leptomeningeal capillary - venous
• Angiomatosis systemic cystic seip syndrome
• Angiomyomatous hamartoma
• Angioneurotic edema hereditary due to C1 esterase deficiency
• Angiosarcoma
  Angiosarcoma
  Angiosarcoma is a malignant neoplasm of endothelial-type cells that line vessel walls. This may be in reference to blood or lymphatic vessels ....
  
  
• Angiosarcoma of the liver
• Angiosarcoma of the scalp
• Angiostrongyliasis
  Angiostrongyliasis
  Angiostrongyliasis is an infection by a nematode from the Angiostrongylus genus of kidney and alimentary tract roundworms. For example, infection with Angiostrongylus cantonensis can occur after consuming raw Giant African land snails, Great Grey Slugs, or other molluscs.In humans, Angiostrongylus...
  
  
• Angiotensin renin aldosterone hypertension
• Anguillulosis

Ani-Ank

• Aniridia absent patella
• Aniridia ataxia renal agenesis psychomotor retardation
  Aniridia ataxia renal agenesis psychomotor retardation
  Aniridia ataxia renal agenesis psychomotor retardation is a rare genetic disorder characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormal kidneys....
  
  
• Aniridia cerebellar ataxia mental deficiency
• Aniridia mental retardation syndrome
• Aniridia ptosis mental retardation obesity familial
• Aniridia renal agenesis psychomotor retardation
• Aniridia type 2
• Aniridia, sporadic
• Aniridia
  Aniridia
  Aniridia is the absence of the iris. Aniridia usually involves both eyes. It can be congenital or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia,...
  
  
• Anisakiasis
• Ankle defects short stature
• Ankyloblepharon ectodermal defects cleft lip palate
• Ankyloblepharon filiforme adnatum cleft palate
• Ankyloblepharon filiforme imperforate anus
• Ankyloglossia heterochromia clasped thumbs
• Ankylosing spondylarthritis
• Ankylosing spondylitis
  Ankylosing spondylitis
  Ankylosing spondylitis , previously known as Bekhterev's disease, Bekhterev syndrome, and Marie-Strümpell disease is a chronic inflammatory disease of the axial skeleton with variable involvement of peripheral joints and nonarticular structures...
  
  
• Ankylosing vertebral hyperostosis with tylosis
• Ankylosis
  Ankylosis
  Ankylosis or anchylosis is a stiffness of a joint due to abnormal adhesion and rigidity of the bones of the joint, which may be the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of...
  
  
• Ankylosis of teeth
• Ankylostomiasis

Ano

• Anodontia
  Anodontia
  In dentistry, anodontia, also called anodontia vera, is a rare genetic disorder characterized by the congenital absence of all primary or permanent teeth. It is associated with the group of skin and nerve syndromes called the ectodermal dysplasias...
  
  
• Anonychia
  Anonychia
  Anonychia is the absence of nails, a rare anomaly, which may be the result of a congenital ectodermal defect, ichthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud phenomenon, lichen planus, epidermolysis bullosa, or severe exfoliative diseases.-References:...
  
  
• Anonychia ectrodactyly
• Anonychia microcephaly
• Anonychia onychodystrophy brachydactyly type B
• Anonychia onychodystrophy
• Anophthalia
• Anophthalia pulmonary hypoplasia
• Anophthalmia
  Anophthalmia
  Anophthalmia, also known as anophthalmos , is the congenital absence of one or both eyes.-Prevalence:...
  
  
• Anophthalmia cleft lip palate hypothalamic disorder
• Anophthalmia cleft palate micrognathia
• Anophthalmia esophageal atresia cryptorchidism
• Anophthalmia megalocornea cardiopathy skeletal anomalies
• Anophthalmia microcephaly hypogonadism
• Anophthalmia plus syndrome
• Anophthalmia short stature obesity
• Anophthalmia Waardenburg syndrome
• Anophthalmos
• Anophthalmos with limb anomalies
• Anophthalmos, clinical
• Anorchia
  Anorchia
  Anorchia is a medical condition where both testes are absent at birth. Within a few weeks of fertilization, the embryo develops rudimentary sex organs, which are crucial to the development of the reproductive system...
  
  
• Anorchidism
• Anorectal anomalies
• Anorectal atresia / Ano-rectal atresia
• Anorexia nervosa
  Anorexia nervosa
  Anorexia nervosa is an eating disorder characterized by refusal to maintain a healthy body weight and an obsessive fear of gaining weight. Although commonly called "anorexia", that term on its own denotes any symptomatic loss of appetite and is not strictly accurate...
  
  
• Anosmia
  Anosmia
  Anosmia is a lack of functioning olfaction, or in other words, an inability to perceive odors. Anosmia may be either temporary or permanent. A related term, hyposmia, refers to a decreased ability to smell, while hyperosmia refers to an increased ability to smell. Some people may be anosmic for one...
  
  
• Anotia facial palsy cardiac defect
• Anotia
  Anotia
  Anotia describes a rare, congenital deformity, a missing auricle, the external, visible part of the ear. This contrasts with microtia, in which a small part of the ear is present....
  
  

Ans-Ant

• Ansell Bywaters Elderking syndrome
• Anterior horn disease
• Anterior pituitary insufficiency, familial
• Anthrax
• Anti-factor VIII autoimmunization
• Antigen-peptide-transporter 2 deficiency
• Anti-HLA hyperimmunization
• Antihypertensive drugs antenatal infection
• Antinolo Nieto Borrego syndrome
• Antiphospholipid syndrome
  Antiphospholipid syndrome
  Antiphospholipid syndrome or antiphospholipid antibody syndrome , often also Hughes syndrome, is an autoimmune, hypercoagulable state caused by antibodies against cell-membrane phospholipids that provokes blood clots in both arteries and veins as well as pregnancy-related complications such as...
  
  
• Anti-plasmin deficiency
• Anti-plasmin deficiency, congenital
• Antisocial personality disorder
  Antisocial personality disorder
  Antisocial personality disorder is described by the American Psychiatric Association's Diagnostic and Statistical Manual, fourth edition , as an Axis II personality disorder characterized by "...a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood...
  
  
• Antisynthetase syndrome
• Antithrombin deficiency, congenital
• Antley-Bixler syndrome
  Antley-Bixler syndrome
  Antley-Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body....
  
  
• Anton syndrome

Ao

• Aorta-pulmonary artery fistula
• Aortic aneurysm
  Aortic aneurysm
  An aortic aneurysm is a general term for any swelling of the aorta to greater than 1.5 times normal, usually representing an underlying weakness in the wall of the aorta at that location...
  
  
• Aortic arch anomaly peculiar facies mental retardation
• Aortic arch interruption
• Aortic arches defect
• Aortic coarctation
  Aortic coarctation
  Coarctation of the aorta, or aortic coarctation, is a congenital condition whereby the aorta narrows in the area where the ductus arteriosus inserts.-Types:There are three types:...
  
  
• Aortic dissection
  Aortic dissection
  Aortic dissection occurs when a tear in the inner wall of the aorta causes blood to flow between the layers of the wall of the aorta and force the layers apart. The dissection typically extends anterograde, but can extend retrograde from the site of the intimal tear. Aortic dissection is a medical...
  
  
• Aortic dissection lentiginosis
• Aortic supravalvular stenosis
• Aortic valve stenosis
  Aortic valve stenosis
  Aortic valve stenosis is a disease of the heart valves in which the opening of the aortic valve is narrowed. The aortic valve is the valve between the left ventricle of the heart and the aorta, which is the largest artery in the body and carries the entire output of blood.-Pathophysiology:The...
  
  
• Aortic valves stenosis of the child
• Aortic window
  Aortic window
  The aortic window is a normally radiolucent region below the aortic arch. It is formed by the bifurcation of the trachea and traversed by the left pulmonary artery. It is visible in the left anterior oblique radiograph of the heart and great vessels....
  
  

Ape-App

• Apert like polydactyly syndrome
• Apert syndrome
  Apert syndrome
  Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible...
  
  
• Aphalangia
• Aphalangia hemivertebrae
• Aphalangia syndactyly microcephaly
• Aphthous stomatitis
• Apiphobia
• Aplasia
  Aplasia
  Aplasia is defined in general as "defective development or congenital absence of an organ or tissue." In the field of hematology, the term refers to "incomplete, retarded, or defective development, or cessation of the usual regenerative process."-Examples:*Acquired pure red cell aplasia*Aplasia...
  
  
• Aplasia cutis autosomal recessive
• Aplasia cutis congenita dominant
• Aplasia cutis congenita epibulbar dermoids
• Aplasia cutis congenita intestinal lymphangiectasia
• Aplasia cutis congenita of limbs recessive
• Aplasia cutis congenita recessive
• Aplasia cutis congenita
  Aplasia cutis congenita
  Aplasia cutis congenita is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin....
  
  
• Aplasia cutis myopia
• Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
• Aplastic anemia
  Aplastic anemia
  Aplastic anemia is a condition where bone marrow does not produce sufficient new cells to replenish blood cells. The condition, per its name, involves both aplasia and anemia...
  
  
• Aplastic crisis
• Apo A-I deficiency
• Apolipoprotein C-II deficiency
• Apparent mineralocorticoid excess
  Apparent mineralocorticoid excess
  Apparent mineralocorticoid excess is an autosomal recessive disorder causing hypertension and hypokalemia . The condition responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2...
  
  
• Appelt-Gerken-Lenz syndrome
  Roberts syndrome
  Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.Roberts syndrome is also known...
  
  
• Appendicitis
  Appendicitis
  Appendicitis is a condition characterized by inflammation of the appendix. It is classified as a medical emergency and many cases require removal of the inflamed appendix, either by laparotomy or laparoscopy. Untreated, mortality is high, mainly because of the risk of rupture leading to...
  
  

Apr-Apu

• Apraxia manual
• Apraxia, Ideomotor
• Apraxia, ocular motor, Cogan type
• Apraxia
  Apraxia
  Apraxia is a disorder caused by damage to specific areas of the cerebrum. Apraxia is characterized by loss of the ability to execute or carry out learned purposeful movements, despite having the desire and the physical ability to perform the movements...
  
  
• Apudoma
  Apudoma
  In pathology, an apudoma is an endocrine tumour that arises from an APUD cell from structures such as the ampulla of Vater, pancreas, and prostate.They are derived from neural crest cells.The term dates back to at least 1975....
  
  

Ara-Aro

• Arachindonic acid, absence of
• Arachnodactyly
  Arachnodactyly
  Arachnodactyly or achromachia, is a condition in which the fingers are abnormally long and slender in comparison to the palm of the hand...
  
  
• Arachnodactyly ataxia cataract aminoaciduria mental retardation
• Arachnodactyly mental retardation dysmorphism
• Arachnoid cysts
• Arachnoiditis
  Arachnoiditis
  Arachnoiditis is a neuropathic disease caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the central nervous system, including the brain and spinal cord...
  
  
• Arakawa's syndrome II
  Arakawa's syndrome II
  Arakawa's syndrome II is an autosomal dominant metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase; affected individuals cannot properly metabolize methylcobalamin, a type of Vitamin B12....
  
  
• Arbovirosis
• Arc syndrome
• Aredyld syndrome
• AREDYLD
  AREDYLD
  AREDYLD stands for "acral renal ectodermal dysplasia lipoatrophic diabetes." AREDLYD is categorized as a "rare" disease, meaning it affects fewer than 200,000 people in the American population....
  
  
• Arginase deficiency
• Arginemia
• Argininosuccinate synthetase deficiency
• Argininosuccinic aciduria
  Argininosuccinic aciduria
  Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of argininosuccinic acid in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system...
  
  
• Argyria
  Argyria
  Argyria is a condition caused by improper exposure to chemical forms of the element silver, silver dust, or silver compounds. The most dramatic symptom of argyria is that the skin becomes blue or bluish-grey colored. Argyria may be found as generalized argyria or local argyria...
  
  
• Arhinia
• Arhinia choanal atresia microphthalmia
• Arnold Stickler Bourne syndrome
• Arnold-Chiari malformation
  Arnold-Chiari malformation
  Arnold–Chiari malformation, or often simply Chiari malformation, is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils through the foramen magnum , sometimes causing non-communicating hydrocephalus as a result of obstruction of cerebrospinal fluid outflow...
  
  
• Aromatase deficiency
  Aromatase deficiency
  Aromatase deficiency is a condition resulting from insufficient production of the enzyme aromatase, which can lead to inappropriate virilization.One notable feature is that it can also affect the mother during gestation that resolves after birth...
  
  
• Aromatic amino acid decarboxylase deficiency

Arr

• Arrhinia
  Arrhinia
  Arrhinia is the congenital partial or complete absence of the nose at birth. It is an extremely rare condition, with few reported cases in the history of modern medicine...
  
  
• Arrhythmogenic right ventricular dysplasia
  Arrhythmogenic right ventricular dysplasia
  Arrhythmogenic right ventricular dysplasia , also called arrhythmogenic right ventricular cardiomyopathy or arrhythmogenic right ventricular dysplasia/cardiomyopathy , is an inherited heart disease....
  
  
• Arroyo Garcia Cimadevilla syndrome
• Arrythmogenic right ventricular dysplasia, familial

Arte

• Arterial calcification of infancy
• Arterial dysplasia
• Arterial tortuosity
• Arteriovenous malformation
  Arteriovenous malformation
  Arteriovenous malformation or AVM is an abnormal connection between veins and arteries, usually congenital. This pathology is widely known because of its occurrence in the central nervous system, but can appear in any location. An arteriovenous malformation is a vascular anomaly. It is a...
  
  
• Arteritis
  Arteritis
  Arteritis is inflammation of the walls of arteries, usually as a result of infection or auto-immune response.-Types:Some disorders have arteritis as their main feature...
  
  

Arth

• Arthritis short stature deafness
• Arthritis, Juvenile
• Arthritis
  Arthritis
  Arthritis is a form of joint disorder that involves inflammation of one or more joints....
  
  
• Arthrogryposis due to muscular dystrophy
• Arthrogryposis ectodermal dysplasia other anomalies
• Arthrogryposis epileptic seizures migrational brain disorder
• Arthrogryposis IUGR thoracic dystrophy
• Arthrogryposis like disorder
• Arthrogryposis like hand anomaly sensorineural
• Arthrogryposis multiplex congenita CNS calcification
• Arthrogryposis multiplex congenita distal
• Arthrogryposis multiplex congenita neurogenic type
• Arthrogryposis multiplex congenita pulmonary hypoplasia
• Arthrogryposis multiplex congenita whistling face
• Arthrogryposis multiplex congenita, distal type 1
• Arthrogryposis multiplex congenita, distal type 2
• Arthrogryposis multiplex congenita, distal, x-linked
• Arthrogryposis multiplex congenita
• Arthrogryposis ophthalmoplegia retinopathy
• Arthrogryposis renal dysfunction cholestasis syndrome
• Arthrogryposis spinal muscular atrophy
• Arthrogryposis
  Arthrogryposis
  Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that is characterized by multiple joint contractures and can include muscle weakness and fibrosis. It is a non-progressive disease...
  
  

As

• Asbestosis
  Asbestosis
  Asbestosis is a chronic inflammatory and fibrotic medical condition affecting the parenchymal tissue of the lungs caused by the inhalation and retention of asbestos fibers...
  
  
• Ascariasis
  Ascariasis
  Ascariasis is a human disease caused by the parasitic roundworm Ascaris lumbricoides. Perhaps as many as one quarter of the world's people are infected, with rates of 45% in Latin America and 95% in parts of Africa. Ascariasis is particularly prevalent in tropical regions and in areas of poor...
  
  
• Ascher's syndrome
  Ascher's syndrome
  Ascher's syndrome, or Laffer-Ascher Syndrome, is a rare disorder first described in 1920.Gorlin RJ,Pindborg JJ,CohenMM.Syndromes of the head and neck, 4th ed.New York:McGraw-Hill, 1976: 500-501. It is characterized by by repeated episodes of lip and eyelid edema and occasionally euthyroid goiter. ...
  
  
• Aseptic meningitis
  Aseptic meningitis
  Aseptic meningitis, or sterile meningitis, is a condition in which the layers lining the brain, meninges, become inflamed and a pyogenic bacterial source is not to blame. Meningitis is diagnosed on a history of characteristic symptoms and certain examination findings...
  
  
• Asherman's syndrome
  Asherman's syndrome
  Asherman's syndrome , also called "uterine synechiae" or intrauterine adhesions , presents a condition characterized by the presence of adhesions and/or fibrosis within the uterine cavity due to scars...
  
  
• Ashman phenomenon
  Ashman phenomenon
  First described by Gouaux and Ashman in 1947, Ashman phenomenon, also known as Ashman beats, describes a particular type of wide complex tachycardia that is often seen in atrial fibrillation...
  
  
• Aspartylglycosaminuria
• Aspergillosis
  Aspergillosis
  Aspergillosis is the name given to a wide variety of diseases caused by fungi of the genus Aspergillus. The most common forms are allergic bronchopulmonary aspergillosis, pulmonary aspergilloma and invasive aspergillosis. Most humans inhale Aspergillus spores every day...
  
  
• Asperger syndrome
  Asperger syndrome
  Asperger's syndrome that is characterized by significant difficulties in social interaction, alongside restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development...
  
  
• Asphyxia neonatorum
• Aspiration pneumonia
  Aspiration pneumonia
  Aspiration pneumonia is bronchopneumonia that develops due to the entrance of foreign materials into the bronchial tree, usually oral or gastric contents...
  
  
• Asplenia
  Asplenia
  Asplenia refers to the absence of normal spleen function and is associated with some serious infection risks. Hyposplenism is used to describe reduced splenic functioning, but not as severely affected as with asplenism.-Congenital:...
  
  
• Astasis
  Astasis
  "Astasia" redirects here. This term was also applied to chlorophyll-less Euglena.Astasis is the inability to stand, walk or even sit up without assistance in the absence of motor weakness or sensory loss because of disruption of muscle coordination...
  
  
• Astasia-abasia
• Asthenia
• Asthma
  Asthma
  Asthma is the common chronic inflammatory disease of the airways characterized by variable and recurring symptoms, reversible airflow obstruction, and bronchospasm. Symptoms include wheezing, coughing, chest tightness, and shortness of breath...
  
  
• Astrocytoma
  Astrocytoma
  Astrocytomas are a type of neoplasm of the brain. They originate in a particular kind of glial-cells, star-shaped brain cells in the cerebrum called astrocytes. This type of tumor does not usually spread outside the brain and spinal cord and it does not usually affect other organs...
  
  
• Asymmetric septal hypertrophy
  Hypertrophic cardiomyopathy
  Hypertrophic cardiomyopathy is a disease of the myocardium in which a portion of the myocardium is hypertrophied without any obvious cause...
  
  

At

• Ataxia
  Ataxia
  Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...
  
  
• Ataxia telangiectasia variant V1
  Ataxia telangiectasia
  Ataxia telangiectasia is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease...
  
  
• Ataxia telangiectasia
  Ataxia telangiectasia
  Ataxia telangiectasia is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease...
  
  
• Ataxia, Marie's
• Atelectasis
  Atelectasis
  Atelectasis is defined as the collapse or closure of alveoli resulting in reduced or absent gas exchange. It may affect part or all of one lung. It is a condition where the alveoli are deflated, as distinct from pulmonary consolidation.It is a very common finding in chest x-rays and other...
  
  
• Atelosteogenesis, type II
  Atelosteogenesis, type II
  Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is extremely rare, and infants with the disorder are usually stillborn, however those that that survive birth die soon after from respiratory failure.-Symptoms:...
  
  
• Athabaskan brain stem dysgenesis
• Atherosclerosis
  Atherosclerosis
  Atherosclerosis is a condition in which an artery wall thickens as a result of the accumulation of fatty materials such as cholesterol...
  
  
• Athetosis
  Athetosis
  Athetosis is a symptom characterized by involuntary convoluted, writhing movements of the fingers, arms, legs, and neck. Movements typical of athetosis are sometimes called athetoid movements. Lesions to the brain are most often the direct cause of the symptoms, particularly to thecorpus striatum...
  
  
• Athlete's foot
  Athlete's foot
  Athlete's foot is a fungal infection of the skin that causes scaling, flaking, and itch of affected areas. It is caused by fungi in the genus Trichophyton and is typically transmitted in moist areas where people walk barefoot, such as showers or bathhouses...
  
  
• Atopic Dermatitis
  Atopic dermatitis
  Atopic dermatitis is an inflammatory, chronically relapsing, non-contagious and pruritic skin disorder...
  
  
• Atresia
  Atresia
  Atresia is a condition in which a body orifice or passage in the body is abnormally closed or absent.Examples of atresia include:* Imperforate anus - malformation of the opening between the rectum and anus....
  
  
• Atresia of small intestine
  Intestinal atresia
  Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the intestine. This defect can either occur in the small or large intestine.-Types of intestinal atresia:...
  
  
• Atrial myxoma
  Atrial myxoma
  An atrial myxoma is a benign tumor found in the heart, commonly in the upper left or right side. It grows on the wall that separates the two sides of the heart.-Causes:Myxomas are the most common type of primary heart tumor....
  
  
• Atrial septal defect
  Atrial septal defect
  Atrial septal defect is a form of congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The interatrial septum is the tissue that divides the right and left atria...
  
  
• Atrioventricular fistula
  Atrioventricular fistula
  An atrioventricular fistula is a fistula between an atrium and a ventricle of the heart.Clinically, thrills can be felt on the arm of the patient if palpated at the fistula....
  
  
• Atrioventricular septal defect
  Atrioventricular septal defect
  Atrioventricular septal defect or atrioventricular canal defect , previously known as "common atrioventricular canal" or "endocardial cushion defect", is characterized by a deficiency of the atrioventricular septum of the heart...
  
  
• Atrophic vaginitis
  Atrophic vaginitis
  Atrophic vaginitis is an inflammation of the vagina due to the thinning and shrinking of the tissues, as well as decreased lubrication...
  
  
• Atrophoderma
  Atrophoderma
  Atrophoderma refers to conditions involving skin atrophy.Types include:* Follicular atrophoderma* Linear atrophoderma of Moulin* Atrophoderma of Pasini and Pierini-References:...
  
  
• Atrophoderma of Pierini and Pasini
• Atrophy
  Atrophy
  Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations , poor nourishment, poor circulation, loss of hormonal support, loss of nerve supply to the target organ, disuse or lack of exercise or disease intrinsic to the tissue itself...
  
  
• ATR-X
  ATR-X
  Alpha-thalassemia mental retardation syndrome , also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome, is a condition caused by a mutated gene. Females with this mutated gene have no specific signs or features, but may demonstrate skewed X chromosome...
  
  
• Attention Deficit Hyperactivity Disorder
• Attenuated FAP
  Familial adenomatous polyposis
  Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
  
  
• Atypical lipodystrophy
  Lipodystrophy
  Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, lipoatrophy is used when describing the loss of fat from one area...
  
  

Au-Az

• Aughton syndrome
• Ausems Wittebol Post Hennekam syndrome
• Autism
  Autism
  Autism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. These signs all begin before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their...
  
  
• Autoimmune hemolytic anemia
  Autoimmune hemolytic anemia
  Autoimmune hemolytic anemia occurs when antibodies directed against the person's own red blood cells cause the RBCs to burst , leading to insufficient plasma concentration. The lifetime of the RBCs is reduced from the normal 100–120 days to just a few days in serious cases...
  
  
• Autoimmune hepatitis
  Autoimmune hepatitis
  Autoimmune Hepatitis is a disease of the liver that occurs when the body's immune system attacks cells of the liver. Anomalous presentation of human leukocyte antigen class II on the surface of hepatocytes, possibly due to genetic predisposition or acute liver infection, causes a cell-mediated...
  
  
• Autoimmune peripheral neuropathy
• Autoimmune polyendocrinopathy syndrome, type I
• Autonomic dysfunction
• Autonomic nervous system diseases
• Axial mesodermal dysplasia
• Axial mesodermal dysplasia spectrum
• Axial osteomalacia
  Osteomalacia
  Osteomalacia is the softening of the bones caused by defective bone mineralization secondary to inadequate amounts of available phosphorus and calcium, or because of overactive resorption of calcium from the bone as a result of hyperparathyroidism...
  
  
• Axial osteosclerosis
  Osteosclerosis
  Osteosclerosis, an elevation in bone density, is normally detected on an X-ray as an area of whiteness, and is where the bone density has significantly increased...
  
  
• Ayazi syndrome
  Ayazi syndrome
  Ayazi syndrome is a syndrome characterized by choroideremia, congenital deafness and obesity.-Symptoms:*Deafness at birth*Obesity*Choroideremia*Impaired vision*Progressive degeneration of the choroid...