sarnsrun/medquad huggingface dataset:
Topic: Scapuloperoneal syndrome, neurogenic, Kaeser type
Question: What are the symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type ?
Answer: What are the signs and symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type? The Human Phenotype Ontology provides the following list of signs and symptoms for Scapuloperoneal syndrome, neurogenic, Kaeser 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) Autosomal dominant inheritance - Foot dorsiflexor weakness - Peroneal muscle atrophy - Scapuloperoneal weakness - Shoulder girdle muscle atrophy - Talipes equinovarus - 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.
Source: GARD
Topic: LEOPARD syndrome
Question: What is (are) LEOPARD syndrome ?
Answer: LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple dark spots on the skin; (E)lectrocardiographic conduction defects (abnormalities of the electrical activity of the heart); (O)cular hypertelorism (widely spaced eyes); (P)ulmonary stenosis (obstruction of the normal outflow of blood from the right ventricle of the heart); (A)bnormalities of the genitalia; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss. There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Some cases are inherited from a parent in an autosomal dominant pattern. Other times, LEOPARD syndrome occurs in people without a family history of the condition due to a new gene mutation.
Source: GARD
Topic: LEOPARD syndrome
Question: What are the symptoms of LEOPARD syndrome ?
Answer: What are the signs and symptoms of LEOPARD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for LEOPARD 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 the pulmonary artery 90% Abnormality of the pulmonary valve 90% Arrhythmia 90% Freckling 90% Hyperextensible skin 90% Hypertelorism 90% Intrauterine growth retardation 90% Melanocytic nevus 90% Myelodysplasia 90% Sensorineural hearing impairment 90% Abnormality of the mitral valve 50% Abnormality of the nose 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Decreased fertility 50% Hypertrophic cardiomyopathy 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Pectus excavatum 50% Ptosis 50% Sprengel anomaly 50% Webbed neck 50% Abnormal localization of kidney 7.5% Abnormality of calvarial morphology 7.5% Abnormality of the endocardium 7.5% Abnormality of the voice 7.5% Aneurysm 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Cognitive impairment 7.5% Coronary artery disease 7.5% Displacement of the external urethral meatus 7.5% Leukemia 7.5% Melanoma 7.5% Neuroblastoma 7.5% Scoliosis 7.5% Short stature 7.5% Spina bifida occulta 7.5% Triangular face 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.
Source: GARD
Topic: Progressive bulbar palsy
Question: What is (are) Progressive bulbar palsy ?
Answer: Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.
Source: GARD
Topic: Progressive bulbar palsy
Question: How to diagnose Progressive bulbar palsy ?
Answer: How is progressive bulbar palsy diagnosed? What tests aid in the diagnosis of progressive bulbar palsy? Progressive bulbar palsy is a difficult to diagnose condition. No one test or procedure offers a definitive diagnosis. Diagnosis is largely based upon the person's symptoms, tests that show how well their nerves are working (e.g., an EMG or electromyography), and ruling out other causes for the symptoms. Particularly, stroke and a condition called myasthenia gravis, may have certain symptoms that are similar to those of progressive bulbar palsy and must be ruled out prior to diagnosing this disorder. Testing for acetylcholine receptor-binding antibodies may be helpful in ruling out myasthenia gravis. Because of the lack of definitive tests, you may find it helpful to consult with a doctor who is experienced in diagnosing ALS. The ALS Association lists experts and specialty centers through their Web site at: http://www.alsa.org/community/als-clinics
Source: GARD
Topic: Progressive bulbar palsy
Question: What are the treatments for Progressive bulbar palsy ?
Answer: How is progressive bulbar palsy treated? Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression. The Robert Packard Center for ALS Research at John Hopkins offers further general information on treatment: http://www.alscenter.org/living_with_als/treatment.html The Mayo Clinic provides information on treatment of ALS in general, which may be helpful: http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/basics/treatment/con-20024397 If you are interested in learning about clinical trials, we recommend that you call the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) at 1-800-411-1222. Organizations, such as the ALS Association and Muscular Dystrophy Association are great sources for information on clinical trial opportunities and research. You can find information about participating in a clinical trial as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.
Source: GARD
Topic: Pigment-dispersion syndrome
Question: What is (are) Pigment-dispersion syndrome ?
Answer: Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance . At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.
Source: GARD
Topic: Noonan-like syndrome with loose anagen hair
Question: What is (are) Noonan-like syndrome with loose anagen hair ?
Answer: Noonan-like syndrome with loose anagen hair is characterized  by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance.
Source: GARD
Topic: Noonan-like syndrome with loose anagen hair
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.
Source: GARD
Topic: Porokeratosis of Mibelli
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.
Source: GARD
Topic: Porokeratosis of Mibelli
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.
Source: GARD
Topic: Porokeratosis of Mibelli
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.
Source: GARD
Topic: Hartnup disease
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.
Source: GARD
Topic: Hartnup disease
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.
Source: GARD
Topic: Male pseudohermaphroditism intellectual disability syndrome, Verloes type
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.
Source: GARD
Topic: Bilateral generalized polymicrogyria
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.
Source: GARD
Topic: Multisystemic smooth muscle dysfunction syndrome
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.
Source: GARD