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What are the symptoms of Acrocallosal syndrome, Schinzel type ? | What are the signs and symptoms of Acrocallosal syndrome, Schinzel type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocallosal syndrome, Schinzel type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Acrocallosal syndrome, Schinzel type |
What is (are) Early-onset, autosomal dominant Alzheimer disease ? | Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. The early-onset, autosomal dominant form of AD is caused by... | Early-onset, autosomal dominant Alzheimer disease |
Is Early-onset, autosomal dominant Alzheimer disease inherited ? | How is early-onset, autosomal dominant Alzheimer disease inherited? Early-onset, autosomal dominant Alzheimer disease is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person ... | Early-onset, autosomal dominant Alzheimer disease |
What are the symptoms of Pachygyria, frontotemporal ? | What are the signs and symptoms of Pachygyria, frontotemporal? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria, frontotemporal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | Pachygyria, frontotemporal |
What is (are) Muscle eye brain disease ? | Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease fr... | Muscle eye brain disease |
What are the symptoms of Muscle eye brain disease ? | What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | Muscle eye brain disease |
What causes Muscle eye brain disease ? | What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contra... | Muscle eye brain disease |
What is (are) Uncombable hair syndrome ? | Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in ... | Uncombable hair syndrome |
What are the symptoms of Uncombable hair syndrome ? | What are the signs and symptoms of Uncombable hair syndrome? Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years. It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly. Over time the hair becomes progressively silvery... | Uncombable hair syndrome |
What causes Uncombable hair syndrome ? | What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the in... | Uncombable hair syndrome |
Is Uncombable hair syndrome inherited ? | Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a pe... | Uncombable hair syndrome |
How to diagnose Uncombable hair syndrome ? | How is uncombable hair syndrome diagnosed? A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney... | Uncombable hair syndrome |
What are the treatments for Uncombable hair syndrome ? | How might uncombable hair syndrome be treated? There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is generally recommended using conditioners and soft brushes, along with avoiding harsh hair treatments such... | Uncombable hair syndrome |
What are the symptoms of Hyperinsulinemic hypoglycemia familial 3 ? | What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 3. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Hyperinsulinemic hypoglycemia familial 3 |
What is (are) Craniometaphyseal dysplasia, autosomal recessive type ? | Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed... | Craniometaphyseal dysplasia, autosomal recessive type |
What are the symptoms of Craniometaphyseal dysplasia, autosomal recessive type ? | What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal recessive type? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hy... | Craniometaphyseal dysplasia, autosomal recessive type |
What causes Craniometaphyseal dysplasia, autosomal recessive type ? | What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communica... | Craniometaphyseal dysplasia, autosomal recessive type |
What are the treatments for Craniometaphyseal dysplasia, autosomal recessive type ? | How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrow... | Craniometaphyseal dysplasia, autosomal recessive type |
What are the symptoms of Lassueur-Graham-Little syndrome ? | What are the signs and symptoms of Lassueur-Graham-Little syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lassueur-Graham-Little syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Lassueur-Graham-Little syndrome |
What is (are) Dihydrolipoamide dehydrogenase deficiency ? | Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and... | Dihydrolipoamide dehydrogenase deficiency |
What are the symptoms of Dihydrolipoamide dehydrogenase deficiency ? | What are the signs and symptoms of Dihydrolipoamide dehydrogenase deficiency? The signs and symptoms of dihydrolipoamide dehydrogenase (DLD) deficiency can vary widely among affected people. Early-onset DLD deficiency typically appears in early infancy with decreased muscle tone (hypotonia), lethargy, and lactic acidos... | Dihydrolipoamide dehydrogenase deficiency |
What causes Dihydrolipoamide dehydrogenase deficiency ? | What causes dihydrolipoamide dehydrogenase deficiency? Dihydrolipoamide dehydrogenase (DLD) deficiency is caused by changes (mutations) in the DLD gene. This gene gives the body instructions to make an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one part of 3 different groups of enzymes that work togethe... | Dihydrolipoamide dehydrogenase deficiency |
Is Dihydrolipoamide dehydrogenase deficiency inherited ? | How is dihydrolipoamide dehydrogenase deficiency inherited? Dihydrolipoamide dehydrogenase (DLD) deficiency is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carr... | Dihydrolipoamide dehydrogenase deficiency |
What are the treatments for Dihydrolipoamide dehydrogenase deficiency ? | How might dihydrolipoamide dehydrogenase deficiency be treated? There are currently no consensus recommendations for the management of dihydrolipoamide dehydrogenase (DLD) deficiency. Management can be hard because various metabolic pathways are affected and 3 enzyme complexes are involved. Deficiencies in enzyme pathw... | Dihydrolipoamide dehydrogenase deficiency |
What are the symptoms of Prosopagnosia, hereditary ? | What are the signs and symptoms of Prosopagnosia, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Prosopagnosia, hereditary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | Prosopagnosia, hereditary |
What are the symptoms of Retinal cone dystrophy 3A ? | What are the signs and symptoms of Retinal cone dystrophy 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 3A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | Retinal cone dystrophy 3A |
What are the symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia ? | What are the signs and symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly pontocerebellar hypoplasia dyskinesia. If the information is available, the table below includes how often the symptom is seen in people ... | Microcephaly pontocerebellar hypoplasia dyskinesia |
What is (are) Kuskokwim disease ? | Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pe... | Kuskokwim disease |
What are the symptoms of Kuskokwim disease ? | What are the signs and symptoms of Kuskokwim disease? The range and and severity of signs and symptoms in individuals with Kuskokwim disease can vary, even among siblings. Affected individuals usually have congenital contractures, especially of lower extremities, which progress during childhood and persist for the life... | Kuskokwim disease |
What are the treatments for Kuskokwim disease ? | How might Kuskokwim disease be treated? Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ... | Kuskokwim disease |
What are the symptoms of Sjogren-Larsson-like syndrome ? | What are the signs and symptoms of Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Sjogren-Larsson-like syndrome |
What are the symptoms of Dystonia 6, torsion ? | What are the signs and symptoms of Dystonia 6, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 6, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dicti... | Dystonia 6, torsion |
What is (are) Hyperparathyroidism-jaw tumor syndrome ? | Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15... | Hyperparathyroidism-jaw tumor syndrome |
What are the symptoms of Hyperparathyroidism-jaw tumor syndrome ? | What are the signs and symptoms of Hyperparathyroidism-jaw tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperparathyroidism-jaw tumor syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Hyperparathyroidism-jaw tumor syndrome |
What is (are) Loin pain hematuria syndrome ? | Loin pain hematuria syndrome (LPHS) is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). Other signs and symptoms include nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria during episodes of pain. The exact underlying cause of LPHS is currently ... | Loin pain hematuria syndrome |
What are the symptoms of Loin pain hematuria syndrome ? | What are the signs and symptoms of loin pain hematuria syndrome? As the name of the condition suggests, loin pain hematuria syndrome (LPHS) is characterized primarily by recurrent or persistent loin pain and/or hematuria (blood in the urine). The loin pain is sometimes described as burning or throbbing and may worsen w... | Loin pain hematuria syndrome |
What causes Loin pain hematuria syndrome ? | What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter bloo... | Loin pain hematuria syndrome |
How to diagnose Loin pain hematuria syndrome ? | How is loin pain hematuria syndrome diagnosed? A diagnosis of loin pain hematuria syndrome is suspected based on the presence of characteristic signs and symptoms, after other conditions that cause similar features have been excluded. Severe hematuria (blood in urine) may be obvious; however, a urinalysis can be perfor... | Loin pain hematuria syndrome |
What are the treatments for Loin pain hematuria syndrome ? | How might loin pain hematuria syndrome be treated? Treatment of loin pain hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily and may occasionally require hospitalization for intrave... | Loin pain hematuria syndrome |
What are the symptoms of Cataract congenital Volkmann type ? | What are the signs and symptoms of Cataract congenital Volkmann type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Cataract congenital Volkmann type |
What are the symptoms of Schimke X-linked mental retardation syndrome ? | What are the signs and symptoms of Schimke X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke X-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this co... | Schimke X-linked mental retardation syndrome |
What is (are) Primary Familial Brain Calcification ? | Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dys... | Primary Familial Brain Calcification |
What are the symptoms of Primary Familial Brain Calcification ? | What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Primary Familial Brain Calcification |
What causes Primary Familial Brain Calcification ? | What causes primary familial brain calcification (PFBC)? PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found. | Primary Familial Brain Calcification |
How to diagnose Primary Familial Brain Calcification ? | How is primary familial brain calcification (PFBC) diagnosed? The diagnosis of PFBC relies upon: 1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging, 2) presence of progressive neurological dysfunction, 3) absence of a metabolic, infectious, toxic, or traumatic cause, an... | Primary Familial Brain Calcification |
What are the treatments for Primary Familial Brain Calcification ? | How might primary familial brain calcification (PFBC) be treated? There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. Antiepileptic drugs (AEDs) can be pres... | Primary Familial Brain Calcification |
What is (are) Fibromuscular dysplasia ? | Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. Narrowi... | Fibromuscular dysplasia |
What are the symptoms of Fibromuscular dysplasia ? | What are the signs and symptoms of Fibromuscular dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibromuscular dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | Fibromuscular dysplasia |
What causes Fibromuscular dysplasia ? | What causes fibromuscular dysplasia? The cause of fibromuscular dysplasia is unknown. It is likely that there are many factors that contribute to the development of this condition. These factors may include blood vessel abnormalities, tobacco use, hormone levels, and genetic predispositions. Approximately 28 percent of... | Fibromuscular dysplasia |
What is (are) Juvenile dermatomyositis ? | Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. ... | Juvenile dermatomyositis |
What are the symptoms of Juvenile dermatomyositis ? | What are the signs and symptoms of Juvenile dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | Juvenile dermatomyositis |
What is (are) Trigeminal Trophic Syndrome ? | Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers i... | Trigeminal Trophic Syndrome |
What is (are) Pigmented purpuric eruption ? | Pigmented purpuric eruption is a condition that causes reddish-brown skin lesions, most commonly on the lower legs. In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own. The cause of pigmented purpuric eruption is unknown. | Pigmented purpuric eruption |
What are the symptoms of Pigmented purpuric eruption ? | What are the signs and symptoms of Pigmented purpuric eruption? Pigmented purpuric eruption is characterized by reddish-brown patches on the skin. These patches result from tiny red dots, sometimes referred to as cayenne pepper spots, which group together to form a flat red patch. Over time, these patches become brown ... | Pigmented purpuric eruption |
What causes Pigmented purpuric eruption ? | What causes pigmented purpuric eruption? The cause of pigmented purpuric eruption is unknown. Occasionally, it occurs as a reaction to a medication, food additive, viral infection or following exercise. In rare cases, there appears to be a genetic component. | Pigmented purpuric eruption |
What are the treatments for Pigmented purpuric eruption ? | What treatment is available for pigmented purpuric eruption? There is no treatment that has been proven to be beneficial for people with pigmented purpuric eruption. However, some treatments have been reported to improve this condition, including pentoxifylline, aminaphtone, and photochemotherapy (PUVA). | Pigmented purpuric eruption |
What is (are) Goldenhar disease ? | Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. Affected individuals commonly have a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenha... | Goldenhar disease |
What are the symptoms of Goldenhar disease ? | What are the signs and symptoms of Goldenhar disease? The major signs and symptoms of Goldenhar disease are usually only seen on one side of the body. These major features include a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spina... | Goldenhar disease |
What is (are) Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? | Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is a syndrome that is characterized by the presence of polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly, and hydrocephalus. The cause of the condition is currently unknown. | Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome |
What are the symptoms of Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? | What are the symptoms of polymicrogyria? A wide variety of symptoms may be observed in people with polymicrogyria, including: Cognitive deficits Epilepsy Paralysis of the face, throat, and tongue Difficulty with speech Drooling | Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome |
What causes Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? | What causes megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome? The cause of MPPH syndrome is unknown. Infection during pregnancy or fetal accident is thought to be unlikely. | Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome |
What are the symptoms of Kallmann syndrome 5 ? | What are the signs and symptoms of Kallmann syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dicti... | Kallmann syndrome 5 |
What is (are) Lesch Nyhan syndrome ? | Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous s... | Lesch Nyhan syndrome |
What are the symptoms of Lesch Nyhan syndrome ? | What are the signs and symptoms of Lesch Nyhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lesch Nyhan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | Lesch Nyhan syndrome |
Is Lesch Nyhan syndrome inherited ? | How is Lesch Nyhan syndrome inherited? Lesch Nyhan syndrome is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes, and males have... | Lesch Nyhan syndrome |
What are the symptoms of Hamanishi Ueba Tsuji syndrome ? | What are the signs and symptoms of Hamanishi Ueba Tsuji syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hamanishi Ueba Tsuji syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Hamanishi Ueba Tsuji syndrome |
What are the symptoms of Neurofibromatosis-Noonan syndrome ? | What are the signs and symptoms of Neurofibromatosis-Noonan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis-Noonan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Neurofibromatosis-Noonan syndrome |
What is (are) Congenital hypothyroidism ? | Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs wh... | Congenital hypothyroidism |
What are the symptoms of Congenital hypothyroidism ? | What are the signs and symptoms of Congenital hypothyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital hypothyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | Congenital hypothyroidism |
What are the symptoms of 18 Hydroxylase deficiency ? | What are the signs and symptoms of 18 Hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 18 Hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | 18 Hydroxylase deficiency |
What are the symptoms of Testicular cancer ? | What are the signs and symptoms of Testicular cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Testicular cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | Testicular cancer |
What are the symptoms of Poikiloderma with neutropenia ? | What are the signs and symptoms of Poikiloderma with neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Poikiloderma with neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Poikiloderma with neutropenia |
What are the symptoms of Lethal short limb skeletal dysplasia Al Gazali type ? | What are the signs and symptoms of Lethal short limb skeletal dysplasia Al Gazali type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal short limb skeletal dysplasia Al Gazali type. If the information is available, the table below includes how often the symptom is seen in peopl... | Lethal short limb skeletal dysplasia Al Gazali type |
What is (are) KBG syndrome ? | KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay;... | KBG syndrome |
What are the symptoms of KBG syndrome ? | What are the signs and symptoms of KBG syndrome? KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. However, the number and severity of symptoms can vary. Characteristic features ... | KBG syndrome |
What are the symptoms of Bifid nose with or without anorectal and renal anomalies ? | What are the signs and symptoms of Bifid nose with or without anorectal and renal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Bifid nose with or without anorectal and renal anomalies. If the information is available, the table below includes how often the symptom is see... | Bifid nose with or without anorectal and renal anomalies |
What are the symptoms of Larsen-like syndrome ? | What are the signs and symptoms of Larsen-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen-like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | Larsen-like syndrome |
What is (are) Chromosome 15q deletion ? | Chromosome 15q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 15. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often oc... | Chromosome 15q deletion |
What is (are) Reynolds syndrome ? | Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodacty... | Reynolds syndrome |
What are the symptoms of Reynolds syndrome ? | What are the signs and symptoms of Reynolds syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reynolds syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | Reynolds syndrome |
What is (are) Pineal cyst ? | Pineal cysts are cysts of the pineal gland which is a small organ in the brain that produces melatonin (a sleep-regulating hormone). Pineal cysts are relatively common and may be found by chance in up to 10% of people undergoing CT or MRI brain imaging. The exact cause of pineal cysts is unknown. Most people with pinea... | Pineal cyst |
What are the symptoms of Pineal cyst ? | What are the signs and symptoms of pineal cysts? People with pineal cysts generally do not have any signs or symptoms. Occasionally, pineal cysts may cause headaches, hydrocephalus, disturbances in vision (gaze palsy), Parinaud syndrome, and vertigo, in which case they are called symptomatic pineal cysts. Although rare... | Pineal cyst |
What causes Pineal cyst ? | What causes pineal cysts? The exact cause of pineal cysts is unknown. However, some studies suggest that bleeding in the pineal region or hormonal influences may play a role in the development and progression of pineal cysts. | Pineal cyst |
What are the treatments for Pineal cyst ? | How might pineal cysts be treated? The best treatment options for pineal cysts depend on many factors, including the size of the cyst and whether or not it is associated with symptoms. For example, people with pineal cysts that do not cause symptoms may not require any form of treatment. However, they may need to have ... | Pineal cyst |
What are the symptoms of Arthrogryposis, distal, type 2E ? | What are the signs and symptoms of Arthrogryposis, distal, type 2E? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, type 2E. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Arthrogryposis, distal, type 2E |
What is (are) Lupus ? | Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus. Genetics is thought to play a role in the development of lupus along with ot... | Lupus |
What are the symptoms of Lupus ? | What are the signs and symptoms of Lupus? You can read about the signs and symptoms of lupus from MedlinePlus and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The Human Phenotype Ontology provides the following list of signs and symptoms for Lupus. If the information is available, ... | Lupus |
Is Lupus inherited ? | Is lupus inherited? The Lupus Foundation of American has a page called Is lupus hereditary? that provides a good overview. They also have a Genetics page for all of their content tagged as related to genetics. Medscape Reference has an in-depth review of the genetics of lupus that was written for healthcare professiona... | Lupus |
What are the treatments for Lupus ? | How might lupus be treated? For information on the treatment of lupus, you can read the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) publication called Handout on Health: Systemic Lupus Erythematosus. NIAMS is the primary NIH organization for research and information on lupus. | Lupus |
What are the symptoms of Otofaciocervical syndrome ? | What are the signs and symptoms of Otofaciocervical syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Otofaciocervical syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | Otofaciocervical syndrome |
What is (are) Punctate palmoplantar keratoderma type I ? | Punctate palmoplantar keratoderma type I, also known as keratosis palmoplantaris papulosa (KPPP) or Brauer-Buschke-Fisher Syndrome is is a rare condition that affects the skin. It is a type of punctate palmoplantar keratoderma. Signs and symptoms begin in early adolescence or later and include hard, round bumps of thic... | Punctate palmoplantar keratoderma type I |
What are the symptoms of Punctate palmoplantar keratoderma type I ? | What are the signs and symptoms of Punctate palmoplantar keratoderma type I? Signs and symptoms of punctate palmoplantar keratoderma type 1 tend to become evident between the ages of 10 to 30 years. Symptoms include multiple, tiny, hard rounded bumps of thickened skin on the palms of the hands and soles of the feet. Th... | Punctate palmoplantar keratoderma type I |
What causes Punctate palmoplantar keratoderma type I ? | What causes palmoplantar keratoderma type 1? Punctate palmoplantar keratoderma type 1 is a condition that is usually inherited in an autosomal dominant manner. It has recently been shown to be caused by mutations in the AAGAB gene in several families. Although the exact function of the AAGAB gene is currently unknown, ... | Punctate palmoplantar keratoderma type I |
Is Punctate palmoplantar keratoderma type I inherited ? | How is punctate palmoplantar keratoderma type I inherited? Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient for a person to be affected. An autosomal dominant c... | Punctate palmoplantar keratoderma type I |
How to diagnose Punctate palmoplantar keratoderma type I ? | How is punctate palmoplantar keratoderma type I diagnosed? Features that support the diagnosis of punctate palmoplantar keratoderma type I include a positive family history (i.e., other affected family members), the presence of multiple tiny hard rounded bumps of thickened skin on the hands and feet, and certain cell h... | Punctate palmoplantar keratoderma type I |
What are the treatments for Punctate palmoplantar keratoderma type I ? | How might punctate palmoplantar keratoderma type 1 be treated? Treatment options for this condition generally include topical salicylic acid, mechanical debridement, excision, and systemic retinoids. These therapies can lead to a temporary decrease in skin thickness and softening of the skin. Unfortunately, in many cas... | Punctate palmoplantar keratoderma type I |
What is (are) Childhood ovarian cancer ? | Childhood ovarian cancer is a rare type of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. The childhood form, specifically, is extremely rare and accounts for less than 5% of all ovarian cancer cases. The most common types of ovarian cancers diagnosed in children and adolescents include... | Childhood ovarian cancer |
What are the symptoms of Lissencephaly X-linked ? | What are the signs and symptoms of Lissencephaly X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | Lissencephaly X-linked |
What are the symptoms of Hydrolethalus syndrome ? | What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | Hydrolethalus syndrome |
What are the symptoms of Pediatric ulcerative colitis ? | What are the signs and symptoms of Pediatric ulcerative colitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pediatric ulcerative colitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Pediatric ulcerative colitis |
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