Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Epidermolysis bullosa simplex, Ogna type ? 
 What are the signs and symptoms of Epidermolysis bullosa simplex, Ogna type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Ogna 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) Abnormal blistering of the skin 90% Bruising susceptibility 90% Abnormality of the nail 50% Aplasia/Hypoplasia of the skin 50% Hyperkeratosis 50% Autosomal dominant inheritance - Onychogryposis of toenails - Skin fragility with non-scarring blistering - 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 Keratosis, seborrheic ? 
 What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. 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 dominant inheritance - Verrucae - 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 Limb-girdle muscular dystrophy, type 2G ? 
 What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2G? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2G. 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) Areflexia of lower limbs - Autosomal recessive inheritance - Calf muscle hypertrophy - Difficulty climbing stairs - Difficulty running - Difficulty walking - Distal lower limb amyotrophy - Distal lower limb muscle weakness - Elevated serum creatine phosphokinase - Foot dorsiflexor weakness - Increased connective tissue - Increased variability in muscle fiber diameter - Muscular dystrophy - Proximal muscle weakness in upper limbs - Proximal upper limb amyotrophy - Rimmed vacuoles - 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 Dandy-Walker malformation with facial hemangioma ? 
 What are the signs and symptoms of Dandy-Walker malformation with facial hemangioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with facial hemangioma. 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) Cavernous hemangioma 90% Cognitive impairment 90% Dandy-Walker malformation 90% Median cleft lip 90% Microcephaly 90% Seizures 90% 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) Pineocytoma ? 
 A pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Pineocytomas most often occur in adults as a solid mass, although they may appear to have fluid-filled (cystic) spaces on images of the brain. Signs and symptoms of pineocytomas include headaches, nausea, hydrocephalus, vision abnormalities, and Parinaud syndrome. Pineocytomas are usually slow-growing and rarely spread to other parts of the body. Treatment includes surgery to remove the pineocytoma; most of these tumors do not regrow (recur) after surgery.
What are the treatments for Pineocytoma ? 
 How might a pineocytoma be treated? Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors. However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surgery be carefully considered in each person.  Radiation therapy is sometimes used following surgery to destroy any tumor cells that may remain, but the benefit of this additional treatment is questionable.
What are the symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification ? 
 What are the signs and symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification. 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 - Cerebral berry aneurysm - Cirrhosis - Emphysema - Hepatic failure - Nonarteriosclerotic cerebral calcification - Portal hypertension - Seizures - Short stature - 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) FG syndrome ? 
 FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and  BRWD3 (FGS7). FGS is inherited in an X-linked recessive pattern. Individualized early intervention and educational services are important so that each child can reach their fullest potential.
What are the treatments for FG syndrome ? 
 How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education services should be initiated as soon as possible so that each child can reach his fullest potential. GeneReviews provides a detailed list of management strategies.
What are the symptoms of Lissencephaly 1 ? 
 What are the signs and symptoms of Lissencephaly 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly 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) Cerebellar hypoplasia - Heterotopia - Hypoplasia of the brainstem - Intellectual disability - Lissencephaly - Muscular hypotonia of the trunk - Pachygyria - Postnatal microcephaly - Seizures - Spastic tetraparesis - Sporadic - Variable expressivity - Ventriculomegaly - 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 Osteoarthropathy of fingers familial ? 
 What are the signs and symptoms of Osteoarthropathy of fingers familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoarthropathy of fingers familial. 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 epiphysis morphology 90% Brachydactyly syndrome 50% Limitation of joint mobility 50% Abnormality of the metaphyses 7.5% Autosomal dominant inheritance - Broad phalanx - Short phalanx of finger - 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 Chondrosarcoma ? 
 What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. 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 - Chondrosarcoma - 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) Waardenburg syndrome type 2 ? 
 Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf.  Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait.
What are the symptoms of Waardenburg syndrome type 2 ? 
 What are the signs and symptoms of Waardenburg syndrome type 2? In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes). Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type. The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2. 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) Heterochromia iridis 90% Premature graying of hair 90% Sensorineural hearing impairment 90% Hypopigmented skin patches 50% White forelock 50% Abnormality of the kidney 7.5% Abnormality of the pulmonary artery 7.5% Aganglionic megacolon 7.5% Ptosis 7.5% Telecanthus 7.5% Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - 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.
How to diagnose Waardenburg syndrome type 2 ? 
 How is a subtype of Waardenburg syndrome type 2 diagnosed? Subtypes of Waardenburg syndrome type 2 are determined by the suspected genetic cause of the condition in a family.  In some subtypes, the genetic cause is a known gene.  In other subtypes, the general location (locus) of the genetic cause has been identified, but the specific gene is not yet known.  There are five different subtypes:  Type 2A is caused by a change (mutation) in the MITF gene on chromosome 3 Type 2B is associated with a locus on chromosome 1 Type 2C is associated with a locus on chromosome 8 Type 2D is caused by mutations is the SNAI2 gene on chromosome 8 Type 2E is caused by mutations in the SOX10 gene on chromosome 22 Because subtypes are defined by the underlying genetic cause, they are not diagnosed by physical features identified during a physical exam.  Physical features may be used to distinguish between types of Waardenburg syndrome, such as Type 1 or Type 2, but do not help identify a specific subtype.
What are the symptoms of Myasthenia gravis, limb-girdle ? 
 What are the signs and symptoms of Myasthenia gravis, limb-girdle? The Human Phenotype Ontology provides the following list of signs and symptoms for Myasthenia gravis, limb-girdle. 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) Adult onset - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Fatigable weakness - Hashimoto thyroiditis - Mildly elevated creatine phosphokinase - Neoplasm - Ophthalmoparesis - Proximal amyotrophy - Ptosis - Sporadic - Thymoma - Type 2 muscle fiber 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.
What is (are) Wilson disease ? 
 Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner. Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.
What causes Wilson disease ? 
 What causes Wilson disease? Wilson disease is caused by changes (mutations) in the ATP7B gene. This gene encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body. Mutations in the ATP7B gene prevent this protein from working properly, which can lead to an accumulation of copper in the body. Because high levels of copper are toxic, this buildup can damage tissues and organs and cause the many signs and symptoms of Wilson disease.
Is Wilson disease inherited ? 
 Is Wilson disease inherited? Wilson disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
What are the treatments for Wilson disease ? 
 How might Wilson disease be treated? There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. If treatment is not effective or if liver failure develops, a liver transplant may be necessary. For more specific information on the treatment and management of Wilson disease, please visit the National Institute of Diabetes and Digestive and Kidney Disease's (NIDDK) website and/or GeneReviews. Click the link to view these resources.