sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Noonan-like syndrome with loose anagen hair ?

Answer:
What are the signs and symptoms of Noonan-like syndrome with loose anagen hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan-like syndrome with loose anagen hair. 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 hair quantity 90% Delayed skeletal maturation 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Short nose 90% Short stature 90% Webbed neck 90% Abnormality of the pulmonary artery 50% Anteverted nares 50% Aplasia/Hypoplasia of the eyebrow 50% Deep philtrum 50% Epicanthus 50% Hydrocephalus 50% Hypertrophic cardiomyopathy 50% Macrotia 50% Pectus excavatum 50% Abnormality of the elbow 7.5% Abnormality of the fingernails 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the palate 7.5% Brachydactyly syndrome 7.5% Carious teeth 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Hypoplastic toenails 7.5% Thick lower lip vermilion 7.5% Thin vermilion border 7.5% Eczema 5% Ichthyosis 5% Nasal speech 5% Atria septal defect - Autosomal dominant inheritance - Hyperactivity - Intellectual disability - Loose anagen hair - Low-set ears - Macrocephaly - Posteriorly rotated ears - Prominent forehead - Pulmonic stenosis - Short neck - Sparse scalp hair - Strabismus - Ventricular septal defect - 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) Porokeratosis of Mibelli ?

Answer:
Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults.  It begins as one or a few small, brownish bumps that grow into raised, bumpy patches.  These patches slowly increase in size over time.  The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors.  Porokeratosis of Mibelli may sometimes harm normal tissue underlying the affected area; it may also develop into skin cancer.  Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.
Question:
What are the symptoms of Porokeratosis of Mibelli ?

Answer:
What are the signs and symptoms of Porokeratosis of Mibelli? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis of Mibelli. 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 skin 90% Hyperkeratosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 33% Abnormality of chromosome stability - Autosomal dominant inheritance - Middle age onset - Porokeratosis - 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 treatments for Porokeratosis of Mibelli ?

Answer:
How might porokeratosis of Mibelli be treated? Treatment depends on the size, location, and aggressiveness of porokeratosis of Mibelli.  Affected individuals are recommended to visit their personal physician regularly to watch for signs of skin cancer, limit sun exposure to the affected area, and use moisturizers as needed.  Imiquimod cream has been found to be an effective treatment, as has 5-fluorouracil cream.  A group of medications called retinoids (including acitretin and isotretinoin), as a pill or cream, may be another treatment option.  If a skin cancer develops from porokeratosis of Mibelli, surgery is recommended.
Question:
What is (are) Hartnup disease ?

Answer:
Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic). For those who do show symptoms, the onset of the disease is usually between the ages of 3 and 9; occasionally the disease may present in adulthood. Mental development is usually normal, though a few cases with intellectual impairment have been reported. The signs and symptoms of Hartnup disease incude skin photosensitivity, neurologic findings, psychiatric symptoms, and ocular (eye) findings. Hartnup disease is caused by mutations in the SLC6A19 gene and is inherited in an autosomal recessive manner.[1][2] People with Hartnup disease may benefit from a high-protein diet, protection from sunlight, vitamin supplementation, and avoidance of certain drugs/medications. In some cases, treatment with nicotinamide supplements and tryptophan ethyl ester may be indicated.
Question:
What are the symptoms of Hartnup disease ?

Answer:
What are the signs and symptoms of Hartnup disease? The signs and symptoms of Hartnup disease may vary and include the following:  Skin findings: sensitivity to sunlight  Neurologic symptoms: ataxia, spasticity, headaches,and hypotonia  Psychiatric symptoms: anxiety, emotional instability, mood changes  Ocular findings: double vision, nystagmus, strabismus, photophobia Symptoms may be triggered by sunlight exposure, fever, drugs, and emotional or physical stress. The episodes of skin and neurologic findings may last for 1-4 weeks before spontaneous remission occurs. The Human Phenotype Ontology provides the following list of signs and symptoms for Hartnup 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) Cutaneous photosensitivity 90% EEG abnormality 90% Hallucinations 90% Hyperreflexia 90% Incoordination 90% Migraine 90% Muscular hypotonia 90% Malabsorption 50% Nystagmus 50% Photophobia 50% Short stature 50% Skin rash 50% Strabismus 50% Abnormal blistering of the skin 7.5% Cognitive impairment 7.5% Encephalitis 7.5% Gingivitis 7.5% Glossitis 7.5% Hypopigmented skin patches 7.5% Irregular hyperpigmentation 7.5% Seizures 7.5% Autosomal recessive inheritance - Emotional lability - Episodic ataxia - Hypertonia - Neutral hyperaminoaciduria - Psychosis - 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 Male pseudohermaphroditism intellectual disability syndrome, Verloes type ?

Answer:
What are the signs and symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism intellectual disability syndrome, Verloes 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) Abnormality of the nipple 90% Cognitive impairment 90% Deeply set eye 90% Downturned corners of mouth 90% Genu valgum 90% Hypoplasia of penis 90% Kyphosis 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Reduced bone mineral density 90% Scrotal hypoplasia 90% Short neck 90% Short nose 90% Short philtrum 90% Short thorax 90% Spina bifida occulta 90% Synophrys 90% Thin vermilion border 90% Absent speech - Bilateral microphthalmos - Cervical spina bifida - Chorioretinal coloboma - Coarse facial features - Intellectual disability - Male pseudohermaphroditism - Obesity - Postnatal growth retardation - Severe 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.
Question:
What is (are) Bilateral generalized polymicrogyria ?

Answer:
Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.
Question:
What is (are) Multisystemic smooth muscle dysfunction syndrome ?

Answer:
Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain  mutation in the ACTA2 gene has been shown to cause this condition in some individuals.
Question:
What are the symptoms of Multisystemic smooth muscle dysfunction syndrome ?

Answer:
What are the signs and symptoms of Multisystemic smooth muscle dysfunction syndrome? Symptoms for people with multisystemic smooth muscle dysfunction syndrome can include the following : Congenital mydriasis (fixed dilated pupils) Patent Ductus Arteriosus Vascular problems including aneurysms Gastrintestinal problems Weak bladder Lung disease White matter abnormalities Changes consistent with MoyaMoya disease The Human Phenotype Ontology provides the following list of signs and symptoms for Multisystemic smooth muscle dysfunction 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 dominant inheritance - Cerebral aneurysm - Cryptorchidism - Hyperperistalsis - Intestinal malrotation - Mydriasis - Patent ductus arteriosus - Pulmonary hypertension - Retinal infarction - Tachypnea - Thoracic aortic aneurysm - 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) Osteopetrosis autosomal dominant type 1 ?

Answer:
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
Question:
What are the symptoms of Osteopetrosis autosomal dominant type 1 ?

Answer:
What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant 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) Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral column - Autosomal dominant inheritance - Conductive hearing impairment - Generalized osteosclerosis - Headache - Osteopetrosis - Thickened calvaria - 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 Welander distal myopathy, Swedish type ?

Answer:
What are the signs and symptoms of Welander distal myopathy, Swedish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Welander distal myopathy, Swedish 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 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Distal amyotrophy - Distal muscle weakness - Mildly elevated creatine phosphokinase - Rimmed vacuoles - Slow progression - Steppage gait - 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 Idiopathic CD4 positive T-lymphocytopenia ?

Answer:
What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. 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 - Bronchiolitis obliterans organizing pneumonia - Immunodeficiency - Lymphopenia - Recurrent otitis media - Recurrent sinusitis - 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 Charcot-Marie-Tooth disease type 2H ?

Answer:
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2H. 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) Absent Achilles reflex - Autosomal recessive inheritance - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal sensory impairment - Foot dorsiflexor weakness - Hyperactive patellar reflex - Hyperreflexia in upper limbs - Juvenile onset - Pes cavus - Steppage gait - 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) Pityriasis rubra pilaris ?

Answer:
Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, body areas affected, and whether other associated conditions are present. PRP is usually sporadic (occurring randomly) but some forms may be inherited.