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Kategori: Diseases & Conditions

Aarskog Syndrome

(Aarskog-Scott Syndrome; Faciodigitogenital Dysplasia or Syndrome; Faciogenital Dysplasia; Shawl Scrotum Syndrome) Definition Aarskog syndrome is an extremely rare genetic disorder. This syndrome causes changes in the size and shape of certain bones and cartilage in the body. The face, fingers, and toes are most often affected. Causes Aarskog syndrome is an inherited disorder. It is […]

Achard Thiers Syndrome

Synonyms of Achard Thiers Syndrome Diabetic Bearded Woman Syndrome Disorder Subdivisions General DiscussionAchard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown. Organizations related to Achard Thiers Syndrome American Diabetes Association […]

Acoustic Neuroma

Synonyms of Acoustic Neuroma Acoustic Neurilemoma Bilateral Acoustic Neuroma Cerebellopontine Angle Tumor Fibroblastoma, Perineural Neurinoma of the Acoustic Nerve Neurofibroma of the Acoustic Nerve Schwannoma of the Acoustic Nerve Disorder Subdivisions General DiscussionAcoustic Neuroma is a benign (non-cancerous) growth that begins at the 8th cranial nerve, which runs from the brain to the inner ear. […]

Adenoid Cystic Carcinoma

Synonyms of Adenoid Cystic Carcinoma ACC Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Disorder Subdivisions General DiscussionThis disease entry was made possible due to the generosity of the Kathleen Keany Memorial Foundation, 8502 East Chapman Avenue, Suite 195, Orange, CA 92869, (714) 538-6920. Adenoid cystic carcinoma (ACC) is a relatively rare form of cancer that most commonly […]

Albinism, oculocutaneous

Synonyms of Albinism, oculocutaneous Brown OCA minimal pigment oculocutaneous albinism OCA1 OCA1A OCA1B OCA2 OCA4 oculocutaneous albinism type 1B platinum oculocutaneous albinism temperature-sensitive OCA tyrosinase-negative OCA tyrosinase-negative oculocutaneous albinism tyrosinase-related OCA yellow oculocutaneous albinism Disorder Subdivisions Oculocutaneous albinism type 1A Oculocutaneous albinism type 1B Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type […]

Alport Syndrome

Synonyms of Alport Syndrome Congenital hereditary hematuria Hematuria-Nephropathy Deafness Hemorrhagic familial nephritis Hemorrhagic Familial Nephritis Hereditary Deafness and Nephropathy Hereditary Nephritis Hereditary Nephritis With Sensory Deafness Nephritis and Nerve Deafness, Hereditary Nephropathy and Deafness, Hereditary Disorder Subdivisions Autosomal Dominant Alport Syndrome (ADAS) Autosomal Recessive Alport Syndrome (ARAS) X-Linked Alport Syndrome (XLAS) General DiscussionAlport syndrome is […]

Amenorrhea, Primary

Synonyms of Amenorrhea, Primary Absence of Menstruation, Primary PA Disorder Subdivisions General DiscussionAmenorrhea is the absense of menstrual periods. The term primary amenorrhea is used if periods have never started in females aged 16 or older. It is a rare gynecological disorder. Regular menstruation usually begins (menarche) within two years of the onset of puberty. […]


Synonyms of Amyloidosis Disorder Subdivisions Hereditary Amyloidosis Localized Amyloidosis Primary Amyloidosis Secondary Amyloidosis General DiscussionAmyloidosis is a group of disorders caused by abnormal folding of proteins leading to fibril formation in one or more body organs, systems or soft tissues. These clumps of protein are called amyloid deposits and the accumulation of amyloid deposits causes […]

Anemia, Fanconi

Synonyms of Anemia, Fanconi Aplastic Anemia with Congenital Anomalies Congenital Pancytopenia Constitutional Aplastic Anemia Fanconi Pancytopenia Fanconi Panmyelopathy Fanconi?s Anemia, Estren-Dameshek Variant Fanconi’s Anemia, Type I (FA1) Disorder Subdivisions Fanconi’s Anemia, Complementation Group A (FANCA); FAA Fanconi’s Anemia, Complementation Group B (FANCB); FACB Fanconi?s Anemia, Complementation Group C (FANCC); FAC Fanconi?s Anemia, Complementation Group D […]

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