umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina ?

Answer: What are the signs and symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina. 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Heterochromia iridis 90% Intrauterine growth retardation 90% Nystagmus 90% Thick eyebrow 90% Truncal obesity 90% Visual impairment 90% Fine hair 50% Frontal bossing 50% Prominent occiput 50% Synophrys 50% Autosomal recessive inheritance - Central heterochromia - Cryptorchidism - Delayed puberty - Distal amyotrophy - Distal muscle weakness - Growth hormone deficiency - Hypogonadotrophic hypogonadism - Hypoplasia of penis - Intellectual disability - Long eyebrows - Long eyelashes - Peripheral axonal neuropathy - Pigmentary retinal degeneration - Severe short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Alveolar capillary dysplasia ?

Answer: What are the signs and symptoms of Alveolar capillary dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alveolar capillary 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Pulmonary hypertension 90% Respiratory insufficiency 90% Hypoplastic left heart 50% Intestinal malrotation 50% Patent ductus arteriosus 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the aorta 7.5% Abnormality of the aortic valve 7.5% Abnormality of the gallbladder 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the spleen 7.5% Abnormality of the upper urinary tract 7.5% Aganglionic megacolon 7.5% Annular pancreas 7.5% Atria septal defect 7.5% Complete atrioventricular canal defect 7.5% Duodenal stenosis 7.5% Single umbilical artery 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Abnormal lung lobation - Abnormality of the pulmonary veins - Autosomal recessive inheritance - Duodenal atresia - Hydronephrosis - Hydroureter - Hypertension - Meckel diverticulum - Neonatal death - Polyhydramnios - Pulmonary insufficiency - Right-to-left shunt - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the genetic changes related to Russell-Silver syndrome ?

Answer: The genetic causes of Russell-Silver syndrome are complex. The disorder often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11.  People normally inherit one copy of each chromosome from their mother and one copy from their father. For most genes, both copies are expressed, or "turned on," in cells. For some genes, however, only the copy inherited from a person's father (the paternal copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternal copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Both chromosome 7 and chromosome 11 contain groups of genes that normally undergo genomic imprinting. Abnormalities involving these genes appear to be responsible for many cases of Russell-Silver syndrome.  Researchers suspect that at least one third of all cases of Russell-Silver syndrome result from changes in a process called methylation. Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. In genes that undergo genomic imprinting, methylation is one way that a gene's parent of origin is marked during the formation of egg and sperm cells. Russell-Silver syndrome has been associated with changes in methylation involving the H19 and IGF2 genes, which are located near one another on chromosome 11. These genes are thought to be involved in directing normal growth. A loss of methylation disrupts the regulation of these genes, which leads to slow growth and the other characteristic features of this disorder.  Abnormalities involving genes on chromosome 7 also cause Russell-Silver syndrome. In 7 percent to 10 percent of cases, people inherit both copies of chromosome 7 from their mother instead of one copy from each parent. This phenomenon is called maternal uniparental disomy (UPD). Maternal UPD causes people to have two active copies of maternally expressed imprinted genes rather than one active copy from the mother and one inactive copy from the father. These individuals do not have a paternal copy of chromosome 7 and therefore do not have any copies of genes that are active only on the paternal copy. In cases of Russell-Silver syndrome caused by maternal UPD, an imbalance in active paternal and maternal genes on chromosome 7 underlies the signs and symptoms of the disorder.  In at least 40 percent of people with Russell-Silver syndrome, the cause of the condition is unknown. It is possible that changes in chromosomes other than 7 and 11 may play a role. Researchers are working to identify additional genetic changes that underlie this disorder.
Question: What are the symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech ?

Answer: What are the signs and symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior scalloping of vertebral bodies - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Brachydactyly syndrome - Carpal bone hypoplasia - Coarse facial features - Cubitus valgus - Cuboid-shaped vertebral bodies - Curly eyelashes - Delayed epiphyseal ossification - Depressed nasal bridge - Flexion contracture - High pitched voice - Hoarse voice - Hypoplasia of midface - Hypoplastic iliac wing - Long philtrum - Malar flattening - Microtia - Pectus excavatum - Platyspondyly - Postnatal growth retardation - Restrictive lung disease - Rhizo-meso-acromelic limb shortening - Round face - Short foot - Short long bone - Short metacarpal - Short neck - Short palm - Short phalanx of finger - Short toe - Single interphalangeal crease of fifth finger - Small epiphyses - Spondyloepiphyseal dysplasia - Tapered metacarpals - Tapered phalanx of finger - Thick lower lip vermilion - Thick upper lip vermilion - Thoracic hypoplasia - Upslanted palpebral fissure - Wide mouth - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Generalized Gangliosidoses ?

Answer: The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids. Excess buildup of these fatty materials (oils, waxes, steroids, and other compounds) can cause permanent damage in the cells and tissues in the brain and nervous systems, particularly in nerve cells. There are two distinct groups of the gangliosidoses, which affect males and females equally.
                
The GM1 gangliosidoses are caused by a deficiency of the enzyme beta-galactosidase. Signs of early infantile GM1 gangliodisosis (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response, and problems with gait. About half of affected persons develop cherry-red spots in the eye. Children may be deaf and blind by age 1.Onset of late infantile GM1 gangliosidosisis typically between ages 1 and 3 years. Signs include an inability to control movement, seizures, dementia, and difficulties with speech. Adult GM1 gangliosidosis strikes between ages 3 and 30, with symptoms that include the wasting away of muscles, cloudiness in the corneas, and dystonia (sustained moscle contractions that case twisting and repetitive movements or abnormal postures). Non-cancerous skin blemishes may develop on the lower part of the trunk of the body. Adult GM1 is usually less severe and progresses more slowly than other forms of the disorder.
                
The GM2 gangliosidoses include Tay-Sachs disease and its more severe form, called Sandhoff disease, both of whichresult from a deficiency of the enzyme beta-hexosaminidase. Symptoms begin by age 6 months and include progressive mental deterioration, cherry-red spots in the retina, marked startle reflex, and seizures. Children with Tay-Sachs may also have dementia, progressive loss of hearing, some paralysis, and difficulty in swallowing that may require a feeding tube. A rarer form of the disorder, which occurs in individuals in their twenties and early thirties, is characterized by an unsteady gait and progressive neurological deterioration. Additional signs of Sandhoff disease include weakness in nerve signaling that causes muscles to contract, early blindness, spasticity, muscle contractions, an abnormally enlarged head, and an enlarged liver and spleen.
Question: What is (are) Osteoporosis ?

Answer: A Bone Disease Osteoporosis is a disease that thins and weakens the bones to the point that they become fragile and break easily. Women and men with osteoporosis most often break bones in the hip, spine, and wrist, but any bone can be affected. You can't "catch" osteoporosis or give it to someone else. In the United States, more than 53 million people either already have osteoporosis or are at high risk due to low bone mass, placing them at risk for more serious bone loss and fractures. Although osteoporosis can strike at any age, it is most common among older people, especially older women. How Bone Loss Occurs Bone is living tissue. Throughout our lives, the body breaks down old bone and replaces it with new bone. But as people age, more bone is broken down than is replaced. The inside of a bone normally looks like a honeycomb, but when a person has osteoporosis, the spaces inside this honeycomb become larger, reflecting the loss of bone density and strength. (The word "osteoporosis" means "porous bone.") The outside of long bones -- called the cortex -- also thins, further weakening the bone. Sometime around the age of 30, bone mass stops increasing, and the goal for bone health is to keep as much bone as possible for as long as you can. In most women, the rate of bone loss increases for several years after menopause, then slows down again, but continues. In men, the bone loss occurs more slowly. But by age 65 or 70, most men and women are losing bone at the same rate. Weak Bones Can Lead to Fractures Osteoporosis is often called "silent" because bone loss occurs without symptoms. People may not know that they have osteoporosis until a sudden strain, bump, or fall causes a bone to break. This can result in a trip to the hospital, surgery, and possibly a long-term disabling condition. Broken bones in your spine are painful and very slow to heal. People with weak bones in their spine gradually lose height and their posture becomes hunched over. Over time a bent spine can make it hard to walk or even sit up. Broken hips are a very serious problem as we age. They greatly increase the risk of death, especially during the year after they break. People who break a hip might not recover for months or even years. Because they often cannot care for themselves, they are more likely to have to live in a nursing home. Prevention and Treatment The good news is that osteoporosis can often be prevented and treated. Healthy lifestyle choices such as proper diet, exercise, and treatment medications can help prevent further bone loss and reduce the risk of fractures.
Question: What is (are) Intraocular (Uveal) Melanoma ?

Answer: Key Points
                    - Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye.    - Being older and having fair skin may increase the risk of intraocular melanoma.    - Signs of intraocular melanoma include blurred vision or a dark spot on the iris.     - Tests that examine the eye are used to help detect (find) and diagnose intraocular melanoma.    - A biopsy of the tumor is rarely needed to diagnose intraocular melanoma.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Intraocular melanoma is a disease in which malignant (cancer) cells form in the tissues of the eye.
                    Intraocular melanoma begins in the middle of three layers of the wall of the eye. The outer layer includes the white sclera (the "white of the eye") and the clear cornea at the front of the eye. The inner layer has a lining of nerve tissue, called the retina, which senses light and sends images along the optic nerve to the brain.   The middle layer, where intraocular melanoma forms, is called the uvea or uveal tract, and has three main parts:         -  Iris  The iris is the colored area at the front of the eye (the "eye color"). It can be seen through the clear cornea. The pupil is in the center of the iris and it changes size to let more or less light into the eye. Intraocular melanoma of the iris is usually a small tumor that grows slowly and rarely spreads to other parts of the body.    -  Ciliary body  The ciliary body is a ring of tissue with muscle fibers that change the size of the pupil and the shape of the lens. It is found behind the iris. Changes in the shape of the lens help the eye focus. The ciliary body also makes the clear fluid that fills the space between the cornea and the iris. Intraocular melanoma of the ciliary body is often larger and more likely to spread to other parts of the body than intraocular melanoma of the iris.      -  Choroid  The choroid is a layer of blood vessels that bring oxygen and nutrients to the eye. Most intraocular melanomas begin in the choroid. Intraocular melanoma of the choroid is often larger and more likely to spread to other parts of the body than intraocular melanoma of the iris.          Intraocular melanoma is a rare cancer that forms from cells that make melanin in the iris, ciliary body, and choroid. It is the most common eye cancer in adults.
Question: What are the symptoms of Lafora disease ?

Answer: What are the signs and symptoms of Lafora disease? The signs and symptoms of Lafora disease generally appear during late childhood or adolescence. Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated febrile or nonfebrile convulsions in infancy or early childhood. The most common feature of Lafora disease is recurrent seizures. Several different types of seizures have been reported including generalized tonic-clonic seizures, occipital seizures (which can cause temporary blindness and visual hallucinations) and myoclonic seizures. These seizures are considered "progressive" because they generally become worse and more difficult to treat over time. With the onset of seizures, people with Lafora disease often begin showing signs of cognitive decline. This may include behavioral changes, depression, confusion, ataxia (difficulty controlling muscles), dysarthria, and eventually, dementia. By the mid-twenties, most affected people lose the ability to perform the activities of daily living; have continuous myoclonus; and require tube feeding and comprehensive care. The Human Phenotype Ontology provides the following list of signs and symptoms for Lafora 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Absence seizures - Apraxia - Autosomal recessive inheritance - Bilateral convulsive seizures - Cutaneous photosensitivity - Dementia - Gait disturbance - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Hepatic failure - Heterogeneous - Myoclonus - Progressive neurologic deterioration - Psychosis - Rapidly progressive - Visual auras - Visual hallucinations - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Pontocerebellar hypoplasia type 1 ?

Answer: What are the signs and symptoms of Pontocerebellar hypoplasia type 1? Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle weakness present. Multiple contractures may also be present at birth, along with other motor impairment. Mental retardation and other signs of cerebellar disruption, including visual impairment, nystagmus and ataxia, may follow the initial presentation. The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 1. 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cerebral cortical atrophy 90% Hypertonia 90% Limitation of joint mobility 90% Microcephaly 90% Seizures 90% Deviation of finger 50% Abnormality of the foot - Ataxia - Autosomal recessive inheritance - Basal ganglia gliosis - Cerebellar hypoplasia - Congenital contracture - Congenital onset - Degeneration of anterior horn cells - EMG: neuropathic changes - Fasciculations - Feeding difficulties in infancy - Hyperreflexia - Hypoplasia of the pons - Hypoplasia of the ventral pons - Intellectual disability - Muscle weakness - Muscular hypotonia - Neuronal loss in basal ganglia - Progressive - Respiratory insufficiency - Spinal muscular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.