sarnsrun/medquad huggingface dataset:
Topic: Hypotrichosis-lymphedema-telangiectasia syndrome
Question: What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome ?
Answer: What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Edema of the lower limbs 90% Lymphangioma 90% Abnormality of the eye 50% Cutis marmorata 50% Periorbital edema 50% Vaginal hernia 50% Venous insufficiency 50% Abnormality of the peritoneum 7.5% Abnormality of the pleura 7.5% Hydrops fetalis 7.5% Abnormality of the nail - Abnormality of the teeth - Absent eyebrow - Absent eyelashes - Autosomal dominant inheritance - Autosomal recessive inheritance - Hydrocele testis - Hypotrichosis - Nonimmune hydrops fetalis - Palmar telangiectasia - Predominantly lower limb lymphedema - Thin skin - 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: Hypoparathyroidism-retardation-dysmorphism syndrome
Question: What are the symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome ?
Answer: What are the signs and symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoparathyroidism-retardation-dysmorphism 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) Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Hyperphosphatemia 90% Hypocalcemia 90% Hypoparathyroidism 90% Intrauterine growth retardation 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Seizures 90% Short foot 90% Short palm 90% Short stature 90% Thin vermilion border 90% Abnormality of dental enamel 50% Recurrent respiratory infections 50% Aplasia/Hypoplasia affecting the eye 7.5% Astigmatism 7.5% Cellular immunodeficiency 7.5% Cryptorchidism 7.5% Hypoplasia of penis 7.5% Increased bone mineral density 7.5% Intestinal obstruction 7.5% Myopathy 7.5% Opacification of the corneal stroma 7.5% Spinal canal stenosis 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Bifid uvula - Congenital hypoparathyroidism - Hypocalcemic seizures - Intellectual disability - Low-set ears - Micropenis - Patchy osteosclerosis - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Recurrent bacterial infections - Severe intrauterine growth retardation - Small hand - Tetany - 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: Primary lateral sclerosis
Question: What is (are) Primary lateral sclerosis ?
Answer: Primary lateral sclerosis is a type of motor neuron disease, where nerve cells that control voluntary muscle movement breakdown and die. In primary lateral sclerosis only the upper motor neurons in the brain are affected. Symptoms often begin with problems in the legs (e.g., weakness, stiffness, spasticity, and balance problems), but may also start with hand clumsiness and changes in speech. The symptoms worsen gradually over time, however people with this condition have a normal life expectancy. Progression of symptoms varies from person to person, some people retain the ability to walk without assistance, others eventually require assistive devices such as canes or wheelchairs. Diagnosis requires extensive testing to exclude other diseases. Treatment may include baclofen and tizanidine to reduce spasticity, quinine or phenytoin to reduce cramps, as well as physical and speech therapy as required.
Source: GARD
Topic: Primary lateral sclerosis
Question: How to diagnose Primary lateral sclerosis ?
Answer: How is primary lateral sclerosis diagnosed? There is no single test that confirms a diagnosis of primary lateral sclerosis (PLS). Because the disease can mimic signs and symptoms of other neurological diseases such as multiple sclerosis and amyotrophic lateral sclerosis (ALS), several tests are done to rule out other diseases. After taking a careful record of an individual's medical history and performing a complete neurological examination, a doctor may order the following tests: Blood work. Blood tests are done to check for infections or other possible causes of muscle weakness. Magnetic resonance imaging (MRI) of the brain and spine. An MRI or other imaging tests may reveal signs of nerve cell degeneration and look for other causes of symptoms, such as structural abnormalities, spinal cord compression, multiple sclerosis and spinal cord tumors. Motor and sensory nerve conduction studies. These tests use a low amount of electrical current to test how quickly the nerves carry impulses through the body, and can indicate damage to nerve cells. Electromyogram (EMG). During this test, the doctor inserts a needle electrode through the skin into various muscles. The electrical activity of the muscles is evaluated when they contract and when they're at rest. This test can measure the involvement of lower motor neurons, which can help to differentiate between PLS and ALS. Cerebrospinal fluid (CSF) analysis. An analysis of the CSF, which is taken during a lumbar puncture in the lower back, can help to rule out multiple sclerosis and other causes of spasticity. After other diseases are ruled out, a doctor may make a preliminary diagnosis of PLS. Sometimes doctors wait three to four years before being sure of the diagnosis, because early ALS can look just like PLS until additional symptoms surface a few years later.
Source: GARD
Topic: Neuronal ceroid lipofuscinosis 10
Question: What is (are) Neuronal ceroid lipofuscinosis 10 ?
Answer: Neuronal ceroid lipofuscinosis 10 (CLN10-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Source: GARD
Topic: Neuronal ceroid lipofuscinosis 10
Question: What are the symptoms of Neuronal ceroid lipofuscinosis 10 ?
Answer: What are the signs and symptoms of Neuronal ceroid lipofuscinosis 10 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 10 . 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) Microcephaly 90% Respiratory insufficiency 90% Seizures 90% Abnormality of metabolism/homeostasis - Apnea - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Congenital onset - Increased neuronal autofluorescent lipopigment - Intellectual disability, progressive - Intellectual disability, severe - Low-set ears - Neuronal loss in central nervous system - Premature closure of fontanelles - Respiratory failure - Retinal atrophy - Rigidity - Rod-cone dystrophy - Sloping forehead - Spasticity - Status epilepticus - Visual loss - 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.
Source: GARD
Topic: WaterhouseFriderichsen syndrome
Question: What is (are) WaterhouseFriderichsen syndrome ?
Answer: WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. Most patients with this condition are children, although adults may rarely be affected. It is deadly if not treated immediately.
Source: GARD
Topic: WaterhouseFriderichsen syndrome
Question: What are the symptoms of WaterhouseFriderichsen syndrome ?
Answer: What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patients often experience prodromic, nonspecific symptoms, including malaise, headache, weakness, dizziness, cough, arthralgia (joint pain), and myalgia (muscle pain).  A characteristic skin rash with a typical evolution occurs in approximately 75% of patients with Waterhouse-Friderichsen syndrome. In its early stages, the rash consists of small, pink macules or papules. These are rapidly followed by petechial lesions, which gradually transform into large, purpuric, coalescent plaques in late stages of the disease.
Source: GARD
Topic: WaterhouseFriderichsen syndrome
Question: What causes WaterhouseFriderichsen syndrome ?
Answer: What causes Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrhoeae, Escherichia coli, Klebsiella pneumoniae, Haemophilus influenzae (group B), Salmonella choleraesuis, Pasteurella multocida, Acinetobacter calcoaceticus, and Plesiomonas shigelloides. It may also be associated with a history of splenectomy. In rare cases, it may be caused by the use of medications that promote blood clotting, low platelet counts, primary antiphospholipid syndrome, renal vein thrombosis or steroid use. While the exact mechanism of disease is not clear, activation of several cytokine mediators appears to lead to sepsis and shock.
Source: GARD
Topic: WaterhouseFriderichsen syndrome
Question: What are the treatments for WaterhouseFriderichsen syndrome ?
Answer: How might Waterhouse-Friderichsen syndrome be treated? Treatment may include antibiotics and glucocorticoids.  Other treatment is symptomatic and supportive.
Source: GARD
Topic: Tucker syndrome
Question: What are the symptoms of Tucker syndrome ?
Answer: What are the signs and symptoms of Tucker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tucker 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 voice 90% Hemiplegia/hemiparesis 90% Laryngomalacia 90% Ptosis 90% Premature birth 50% Short stature 50% Autosomal dominant inheritance - Bilateral ptosis - Vocal cord paralysis - 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: Leiner disease
Question: What are the symptoms of Leiner disease ?
Answer: What are the signs and symptoms of Leiner disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiner 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) Autosomal recessive inheritance - Complement deficiency - Generalized seborrheic dermatitis - Intractable diarrhea - Recurrent infections - Recurrent meningitis - 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: Spondylometaphyseal dysplasia X-linked
Question: What are the symptoms of Spondylometaphyseal dysplasia X-linked ?
Answer: What are the signs and symptoms of Spondylometaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia X-linked. 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 nail - Anteverted nares - Coarse facial features - Depressed nasal bridge - Enlarged joints - Hip contracture - Hyperextensibility of the finger joints - Hypertelorism - Intellectual disability, mild - Knee flexion contracture - Kyphosis - Neurological speech impairment - Nystagmus - Pectus carinatum - Platyspondyly - Respiratory failure - Sclerosis of skull base - Severe short stature - Spondylometaphyseal dysplasia - Strabismus - Tapered finger - Thoracolumbar scoliosis - Wide nasal bridge - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Neurocutaneous melanosis
Question: What is (are) Neurocutaneous melanosis ?
Answer: Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most patients present with neurological features early in life, which can be secondary to intracranial hemorrhages (bleeding in the brain), impairment of cerebrospinal fluid circulation (fluid around the brain and spinal cord), and/or malignant transformation of the melanocytes. The prognosis of patients with symptomatic neurocutaneous melanosis is extremely poor, even in the absence of malignancy. Chemotherapy has been ineffective in the few patients in whom it has been tried.
Source: GARD
Topic: Neurocutaneous melanosis
Question: What are the symptoms of Neurocutaneous melanosis ?
Answer: What are the signs and symptoms of Neurocutaneous melanosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurocutaneous melanosis. 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% Generalized hyperpigmentation 90% Hypertrichosis 90% Melanocytic nevus 90% Seizures 90% Thickened skin 90% Abnormality of neuronal migration 7.5% Abnormality of retinal pigmentation 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Arnold-Chiari malformation 7.5% Behavioral abnormality 7.5% Chorioretinal coloboma 7.5% Cranial nerve paralysis 7.5% Dandy-Walker malformation 7.5% EEG abnormality 7.5% Encephalitis 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Melanoma 7.5% Meningocele 7.5% Renal hypoplasia/aplasia 7.5% Syringomyelia 7.5% Thrombophlebitis 7.5% Arachnoid cyst 5% Choroid plexus papilloma 5% Hydrocephalus 5% Meningioma 5% Death in infancy - Mental deterioration - Numerous congenital melanocytic nevi - Sporadic - 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: Alpha-thalassemia x-linked intellectual disability syndrome
Question: What is (are) Alpha-thalassemia x-linked intellectual disability syndrome ?
Answer: Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms.  It is caused by mutations in the ATRX gene and is inherited in an x-linked way.  Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.
Source: GARD
Topic: Alpha-thalassemia x-linked intellectual disability syndrome
Question: Is Alpha-thalassemia x-linked intellectual disability syndrome inherited ?
Answer: How is alpha-thalassemia x-linked intellectual disability syndrome inherited? Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is caused by a mutation in the ATRX gene and is inherited in an x-linked way.  The chance that a relative may have ATRX syndrome depends on whether the mutation in the first affected family member was inherited from his mother or happened by chance (a de novo mutation).  If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition.  If the mutation was inherited from his mother, each of his mother's sisters has a 50% of being a carrier of ATRX syndrome.  If a woman is a carrier of an ATRX mutation, she has a 25% chance of having a son with the mutation who is affected with ATRX syndrome; a 25% chance of having a son who does not have the mutation and does not have ATRX syndrome; a 25% chance of having a daughter with the mutation who is a carrier of ATRX syndrome; and a 25% chance of having a daughter who does not have the mutation and is not a carrier.
Source: GARD