Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Palant cleft palate syndrome ? 
 What are the signs and symptoms of Palant cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palant cleft palate 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bulbous nose - Cleft palate - Contracture of the proximal interphalangeal joint of the 4th finger - Contracture of the proximal interphalangeal joint of the 5th finger - Exaggerated cupid's bow - Intellectual disability, progressive - Intellectual disability, severe - Motor delay - Short stature - Upslanted palpebral fissure - 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.
What is (are) Sialadenitis ? 
 Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. There are both acute and chronic forms. Although it is quite common among elderly adults with salivary gland stones, sialadenitis can also occur in other age groups, including infants during the first few weeks of life. Without proper treatment, sialadenitis can develop into a severe infection, especially in people who are debilitated or elderly.
What are the symptoms of Sialadenitis ? 
 What are the signs and symptoms of sialadenitis? Signs and symptoms of sialadenitis may include fever, chills, and unilateral pain and swelling in the affected area. The affected gland may be firm and tender, with redness of the overlying skin. Pus may drain through the gland into the mouth.
What causes Sialadenitis ? 
 What causes sialadenitis? Sialadenitis usually occurs after hyposecretion (reduced flow from the salivary glands) or duct obstruction, but may develop without an obvious cause. Saliva flow can be reduced in people who are sick or recovering from surgery, or people who are dehydrated, malnourished, or immunosuppressed. A stone or a kink in the salivary duct can also diminish saliva flow, as can certain medications (such as antihistamines, diuretics, psychiatric medications, beta-blockers, or barbiturates). It often occurs in chronically ill people with xerostomia (dry mouth), people with Sjogren syndrome, and in those who have had radiation therapy to the oral cavity. The most common causative organism in the infection is Staphylococcus aureus; others include streptococci, coliforms, and various anaerobic bacteria. Although less common than bacteria, several viruses have also been implicated in sialadenitis. These include the mumps virus, HIV, coxsackievirus, parainfluenza types I and II, influenza A, and herpes.
What are the treatments for Sialadenitis ? 
 How might sialadenitis be treated? The initial treatment for sialadenitis is antibiotics active against S. aureus. Hydration, ingesting things that trigger saliva flow (such as lemon juice or hard candy), warm compresses, gland massage, and good oral hygiene are also important. Abscesses need to be drained. Occasionally, in cases of chronic or relapsing sialadenitis, a superficial parotidectomy or submandibular gland excision is needed.
What is (are) Cherubism ? 
 Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. The enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. The condition may be mild or severe. People with the severe form may have problems with vision, breathing, speech, and swallowing. Many adults with cherubism have a normal facial appearance. Most people with cherubism do not any other signs and symptoms. The condition is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene., in most cases.
What are the symptoms of Cherubism ? 
 What are the signs and symptoms of Cherubism? Cherubism is characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is very mild and barely noticeable, while in other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance. The Human Phenotype Ontology provides the following list of signs and symptoms for Cherubism. 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 the mandible 90% Neoplasm of the skeletal system 90% Abnormality of dental morphology 50% Reduced number of teeth 50% Abnormality of the voice 7.5% Apnea 7.5% Feeding difficulties in infancy 7.5% Optic atrophy 7.5% Proptosis 7.5% Visual impairment 7.5% Autosomal dominant inheritance - Childhood onset - Constriction of peripheral visual field - Macular scarring - Marcus Gunn pupil - Oligodontia - Optic neuropathy - Reduced visual acuity - Round face - Striae distensae - 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.
What causes Cherubism ? 
 How does one get cherubism? What causes cherubism? Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown.
Is Cherubism inherited ? 
 If I find that I am not a carrier for cherubism can I still have children with the disease? Yes. Again, only 80 percent of people with cherubism have an identifiable mutation in the SH3BP2 gene. In the remaining cases, the cause is genetic, but unknown. Individuals who do not have an identifiable genetic cause can still have children with cherubism.
What is (are) Reactive arthritis ? 
 Reactive arthritis is a type of infectious arthritis that occurs as a reaction to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of the eyes (conjunctivitis) and inflammation of the urinary tract (urethritis). These symptoms may occur alone, together, or not at all. The symptoms of reactive arthritis usually last 3 to 12 months, although symptoms can return or develop into a long-term disease in a small percentage of people. The exact cause of reactive arthritis is unknown. It may follow an infection with Salmonella enteritidis, Salmonella typhimurium, Yersinia enterocolitica, Campylobacter jejuni, Clostridium difficile, Shigella sonnei, Entamoeba histolytica, Cryptosporidium, or Chlamydia trachomatis. Certain genes may make you more prone to the syndrome. For instance, the condition is observed more commonly in patients with human lymphocyte antigen B27 (HLA-B27) histocompatibility antigens. The goal of treatment is to relieve symptoms and treat any underlying infection. Antibiotics may be prescribed. Nonsteroidal anti-inflammatory drugs (NSAIDS), pain relievers, and corticosteroids may be recommended for those with joint pain.
What are the symptoms of Reactive arthritis ? 
 What are the signs and symptoms of Reactive arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reactive arthritis. 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 the fingernails 90% Abnormality of the oral cavity 90% Abnormality of the urethra 90% Arthralgia 90% Arthritis 90% Cartilage destruction 90% Enthesitis 90% Hyperkeratosis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Limitation of joint mobility 90% Malabsorption 90% Osteomyelitis 90% Pustule 90% Abdominal pain 50% Abnormality of the pleura 50% Inflammation of the large intestine 50% Abnormal tendon morphology 7.5% Abnormality of temperature regulation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pericardium 7.5% Photophobia 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% 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.
What are the symptoms of Omphalocele cleft palate syndrome lethal ? 
 What are the signs and symptoms of Omphalocele cleft palate syndrome lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Omphalocele cleft palate syndrome lethal. 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) Omphalocele 90% Abnormality of female internal genitalia 50% Cleft palate 50% Hydrocephalus 50% Autosomal recessive inheritance - Bicornuate uterus - Bifid uvula - Death in infancy - 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.
What is (are) Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? 
 Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes (mutations) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? 
 What are the signs and symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius? Males with hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other signs and symptoms may include: Seizures Severe intellectual disability Spasticity Of note, HSAS is one form of L1 syndrome, which is an inherited condition that primarily affects the nervous system. Other forms include MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. All of the different forms of L1 syndrome may be observed in affected people within the same family. GeneReviews offers more specific information about the signs and symptoms associated with each form of L1 syndrome. Please click on the link to access this resource. The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus due to congenital stenosis of aqueduct of sylvius. 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) Aqueductal stenosis 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hydrocephalus 90% Increased intracranial pressure 90% Adducted thumb 50% Coarse facial features 7.5% Holoprosencephaly 7.5% Limitation of joint mobility 7.5% Nystagmus 7.5% Seizures 7.5% Strabismus 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Corticospinal tract hypoplasia - Intellectual disability - Macrocephaly - Spastic paraplegia - Spasticity - X-linked recessive inheritance - 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.
Is Hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited ? 
 Is hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited? Hydrocephalus due to congenital stenosis of aqueduct of sylvius is inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. The X chromosome is one of the two sex chromosomes (the other sex chromosome is the Y chromosome). Females have two X chromosomes in each cell and males have an X chromosome and a Y chromosome in each cell. Although females have two X chromosomes, one of the X chromosomes in each cell is "turned off" and all of the genes on that chromosome are inactivated. Females who have a change (mutation) in a gene on one of their X chromosomes are called carriers of the related condition. Carrier females usually do not have symptoms of the condition because the X chromosome with the mutated gene is often turned off and they have another X chromosome with a working copy of the gene. Sometimes, the X chromosome with the working copy of the gene is turned off, which may cause symptoms of the condition. However, females with symptoms are usually much more mildly affected than males. A male has only one X chromosome, so if he inherits a mutation on the X chromosome, he will have signs and symptoms (be affected). Males with an X-linked recessive condition always pass the mutated gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome to male offspring. Female carriers of an X-linked recessive condition have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have an affected son, and a 25% chance to have an unaffected son. This also means that each daughter of a carrier mother has a 50% chance of being a carrier, and each son has a 50% chance of having the condition.
How to diagnose Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? 
 How is hydrocephalus due to congenital stenosis of aqueduct of sylvius diagnosed? A diagnosis of hydrocephalus due to congenital stenosis of aqueduct of sylvius is typically suspected based on the presence of characteristic signs and symptoms on physical examination and/or brain imaging (i.e. CT scan, MRI scan). Identification of a change (mutation) in the L1CAM gene can be used to confirm the diagnosis.
What are the treatments for Hydrocephalus due to congenital stenosis of aqueduct of sylvius ? 
 How might hydrocephalus due to congenital stenosis of aqueduct of sylvius be treated? The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. Special education and early intervention may be recommended for children with intellectual disability. Although intervention is rarely necessary for adducted thumbs (bent towards the palms), tendon transfer surgery or splinting may be suggested in some cases.
What are the symptoms of Ectrodactyly polydactyly ? 
 What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly polydactyly. 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) Postaxial hand polydactyly 90% Split hand 90% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Finger syndactyly 50% Symphalangism affecting the phalanges of the hand 50% Autosomal recessive inheritance - Split foot - 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.
What are the symptoms of Progeroid syndrome, Penttinen type ? 
 What are the signs and symptoms of Progeroid syndrome, Penttinen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome, Penttinen type. 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) Scoliosis 5% Wormian bones 5% Brachydactyly syndrome - Delayed cranial suture closure - Delayed eruption of teeth - Delayed skeletal maturation - Growth abnormality - Hyperkeratosis - Hypermetropia - Hypoplasia of midface - Lipoatrophy - Narrow nose - Osteolytic defects of the phalanges of the hand - Osteopenia - Proptosis - Sensorineural hearing impairment - Slender long bone - Sparse hair - Thin calvarium - Thin vermilion border - Thyroid-stimulating hormone excess - 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.
What is (are) Fanconi Bickel syndrome ? 
 Fanconi Bickel syndrome (FBS) is a rare glycogen storage disease characterized by glycogen accumulation in the liver and kidneys; severe renal tubular dysfunction; and impaired glucose and galactose metabolism. Signs and symptoms begin in the first few months of life and include failure to thrive, excessive urination (polyuria) and rickets, followed by short stature and hepatosplenomegaly in early childhood. Puberty is delayed. FBS is inherited in an autosomal recessive manner and is caused by mutations in the SLC2A2 gene. Treatment is generally symptomatic.