Druvith/transformed_medDataset huggingface dataset:
What is (are) Pontocerebellar hypoplasia type 2 ? 
 Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
What are the symptoms of Pontocerebellar hypoplasia type 2 ? 
 What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia 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) Death in childhood 7.5% Cerebral atrophy 5% Cerebral cortical atrophy 5% Cortical gyral simplification 5% Ventriculomegaly 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Babinski sign - Cerebellar hemisphere hypoplasia - Cerebellar hypoplasia - Cerebellar vermis hypoplasia - Chorea - Clonus - Congenital onset - Dystonia - Extrapyramidal dyskinesia - Feeding difficulties - Gliosis - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the pons - Impaired smooth pursuit - Limb hypertonia - Microcephaly - Muscular hypotonia of the trunk - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - Sloping forehead - Visual impairment - 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 Weissenbacher-Zweymuller syndrome ? 
 What are the signs and symptoms of Weissenbacher-Zweymuller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weissenbacher-Zweymuller 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) Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Cleft palate - Coronal cleft vertebrae - Depressed nasal bridge - Dumbbell-shaped long bone - Enlarged epiphyses - Hypertelorism - Pierre-Robin sequence - Proptosis - Rhizomelia - Sensorineural hearing impairment - 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) Ehlers-Danlos syndrome, kyphoscoliosis type ? 
 Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera. EDS, kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene and is inherited in an autosomal recessive manner. Treatment is focused on preventing serious complications and relieving associated signs and symptoms.
What causes Ehlers-Danlos syndrome, kyphoscoliosis type ? 
 What causes Ehlers-Danlos syndrome, kyphoscoliosis type? Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene. This gene encodes an enzyme that helps process molecules which allow collagen to form stable interactions with one another. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in the PLOD1 gene lead to reduced levels of functional enzyme which disrupt networks of collagen throughout the body. This weakens the connective tissues and leads to the characteristic signs and symptoms associated with EDS, kyphoscoliosis type.
Is Ehlers-Danlos syndrome, kyphoscoliosis type inherited ? 
 Is Ehlers-Danlos Syndrome, kyphoscoliotic type inherited? Ehlers-Danlos syndrome, kyphoscoliosis type 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.
How to diagnose Ehlers-Danlos syndrome, kyphoscoliosis type ? 
 How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation Genetic testing for a change (mutation) in the PLOD1 gene
What are the treatments for Ehlers-Danlos syndrome, kyphoscoliosis type ? 
 How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces may be necessary depending on the severity of joint instability. Depending on the severity of the kyphoscoliosis (kyphosis and scoliosis), surgery may be necessary. Because EDS, kyphoscoliosis type is associated with fragile skin with abnormal wound healing, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Regular follow-up may be recommended to check for development or progression of abnormalities of the eyes, cardiovascular system, and other parts of the body. GeneReview's Web site offers more specific information regarding the treatment and management of EDS, kyphoscoliosis type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
What are the symptoms of Kleiner Holmes syndrome ? 
 What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes 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) Sandal gap 90% Clinodactyly of the 5th finger 50% Autosomal recessive inheritance - Broad hallux - Hallux varus - Preaxial hand polydactyly - Syndactyly - 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 Heart-hand syndrome, Slovenian type ? 
 What are the signs and symptoms of Heart-hand syndrome, Slovenian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Slovenian 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) Myopathy 5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Dilated cardiomyopathy - Syndactyly - 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 Groenouw type I corneal dystrophy ? 
 What are the signs and symptoms of Groenouw type I corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Groenouw type I corneal dystrophy. 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 - Cataract - Granular corneal dystrophy - Nodular corneal dystrophy - Punctate corneal dystrophy - Strabismus - 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 Alpha-ketoglutarate dehydrogenase deficiency ? 
 What are the signs and symptoms of Alpha-ketoglutarate dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-ketoglutarate dehydrogenase 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypertonia 90% Incoordination 90% Short stature 90% Skeletal muscle atrophy 90% Abnormality of movement 50% Abnormality of the salivary glands 50% Hydrocephalus 50% Autosomal recessive inheritance - Congenital lactic acidosis - Death in childhood - Increased serum lactate - Metabolic acidosis - Muscular hypotonia - 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) Hepatocellular carcinoma, childhood ? 
 Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of factors including the stage of the cancer.
What are the symptoms of Hepatocellular carcinoma, childhood ? 
 What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. 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 - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - 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 Hepatocellular carcinoma, childhood ? 
 What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease.  Children living in regions of the world where heptatitis B virus is common have been reported to have a much greater risk of developing this disease.  Chronic infection by hepatitis C virus has also been linked to the development of hepatocellular carcinoma. Hepatocellular carcinoma has also been reported to develop in the presence of liver disease, cirrhosis, and inborn errors of metabolism. In addition, various other reported risk factors for developing hepatocellular carcinoma include: male sex, co-infection with other viral liver disease, co-infection with HIV, alcohol abuse, family history of this carcinoma, increased hepatic iron, increased serum alanine aminotransferase levels, exposure to aflatoxin B1 by food contamination, genetic variants of glutathione S-transferase, and various metabolic liver disorders. Chronic Epstein Barr virus infections have also been suggested to play a role in the development of hepatocellular carcinoma in Asian patients. This association remains to be confirmed in other populations.
What are the symptoms of Hodgkin lymphoma ? 
 What are the signs and symptoms of Hodgkin lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hodgkin lymphoma. 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 immune system physiology 90% Lymphadenopathy 90% Lymphoma 90% Abnormality of temperature regulation 50% Anorexia 50% Chest pain 50% Hyperhidrosis 50% Pruritus 50% Weight loss 50% Bone marrow hypocellularity 7.5% Bone pain 7.5% Hemoptysis 7.5% Hepatomegaly 7.5% Incoordination 7.5% Migraine 7.5% Peripheral neuropathy 7.5% Respiratory insufficiency 7.5% Splenomegaly 7.5% Autosomal recessive inheritance - Hodgkin lymphoma - Impaired lymphocyte transformation with phytohemagglutinin - Polyclonal elevation of IgM - 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) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ? 
 Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 (BPES II) is a condition that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. BPES type 2 consists only of the eyelid malformations, whereas  BPES type 1 also causes premature ovarian failure. It is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant manner. Treatment typically consists of various eyelid surgeries to correct the malformations.
What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ? 
 What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus 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) Blepharophimosis 90% Depressed nasal bridge 90% Epicanthus 90% Ptosis 90% Decreased fertility 50% Lacrimation abnormality 50% Myopia 50% Nystagmus 7.5% Strabismus 7.5% Synophrys 7.5% Abnormality of the breast - Abnormality of the hair - Amenorrhea - Autosomal dominant inheritance - Cupped ear - Epicanthus inversus - Female infertility - High palate - Hypermetropia - Increased circulating gonadotropin level - Microcornea - Microphthalmia - Premature ovarian failure - Telecanthus - 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.
What is (are) Fetal retinoid syndrome ? 
 Fetal retinoid syndrome is a characteristic pattern of physical and mental birth defects that results from maternal use of retinoids during pregnancy. The most well known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne. Birth defects associated with fetal retinoid syndrome include: hydrocephalus, microcephaly, intellectual disabilities, ear and eye abnormalities, cleft palate and other facial differences, and heart defects. Isotretinoin can cause these birth defects in the early weeks of pregnancy, even before a woman knows that she is pregnant.