sarnsrun/medquad huggingface dataset:
Topic: Glomerulonephritis with sparse hair and telangiectases
Question: What are the symptoms of Glomerulonephritis with sparse hair and telangiectases ?
Answer: What are the signs and symptoms of Glomerulonephritis with sparse hair and telangiectases? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulonephritis with sparse hair and telangiectases. 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 eyebrow - Absent eyelashes - Alopecia - Autosomal dominant inheritance - Decreased subcutaneous fat - Epicanthus - Epidermal hyperkeratosis - Facial telangiectasia in butterfly midface distribution - Hydrocele testis - Hypotrichosis - Long nose - Mandibular prognathia - Membranoproliferative glomerulonephritis - Oval face - Palpebral edema - Prominent nasal bridge - Reduced subcutaneous adipose tissue - Renal insufficiency - Sparse eyebrow - Sparse eyelashes - Telangiectasia of extensor surfaces - Thick vermilion border - 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: Frontometaphyseal dysplasia
Question: What are the symptoms of Frontometaphyseal dysplasia ?
Answer: What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. 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 dental morphology 90% Abnormality of frontal sinus 90% Abnormality of the metaphyses 90% Bowing of the long bones 90% Camptodactyly of finger 90% Craniofacial hyperostosis 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Abnormal form of the vertebral bodies 50% Abnormality of the palate 50% Accelerated skeletal maturation 50% Aplasia/Hypoplasia of the thumb 50% Arachnodactyly 50% Conductive hearing impairment 50% Elbow dislocation 50% Scoliosis 50% Sensorineural hearing impairment 50% Skeletal muscle atrophy 50% Synostosis of carpal bones 50% Ulnar deviation of finger 50% Abnormality of the larynx 7.5% Abnormality of the urethra 7.5% Complete atrioventricular canal defect 7.5% Craniosynostosis 7.5% Tracheal stenosis 7.5% Ureteral stenosis 7.5% Ankle contracture - Antegonial notching of mandible - Anteriorly placed odontoid process - Broad phalanges of the hand - Coarse facial features - Coat hanger sign of ribs - Cor pulmonale - Coxa valga - Delayed eruption of teeth - Dental malocclusion - Elbow flexion contracture - Fused cervical vertebrae - Genu valgum - High palate - Hirsutism - Hydronephrosis - Hydroureter - Increased density of long bone diaphyses - Intellectual disability - Knee flexion contracture - Large foramen magnum - Long foot - Long phalanx of finger - Mitral valve prolapse - Partial fusion of carpals - Partial fusion of tarsals - Persistence of primary teeth - Pointed chin - Scapular winging - Selective tooth agenesis - Short chin - Stridor - Wide nasal bridge - Wrist flexion contracture - X-linked recessive 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: IBIDS syndrome
Question: What is (are) IBIDS syndrome ?
Answer: Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy).
Source: GARD
Topic: IBIDS syndrome
Question: What are the symptoms of IBIDS syndrome ?
Answer: What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, short stature, mental retardation, delayed neuromuscular development and other central nervous system anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely-aged facial appearance, hypogonadism, cataracts, osteosclerosis (abnormal increase in density and hardness of the bone), dysphonia, and increased susceptibility to infections. The Human Phenotype Ontology provides the following list of signs and symptoms for IBIDS 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 face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - 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: IBIDS syndrome
Question: Is IBIDS syndrome inherited ?
Answer: What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for Tay syndrome, their children have a 25% chance of being affected with Tay syndrome. Additionally, each child has a 50% chance of being an unaffected carrier, like their parents, and a 25% chance of being a non-carrier.
Source: GARD
Topic: IBIDS syndrome
Question: What are the treatments for IBIDS syndrome ?
Answer: What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum.
Source: GARD
Topic: Selig Benacerraf Greene syndrome
Question: What are the symptoms of Selig Benacerraf Greene syndrome ?
Answer: What are the signs and symptoms of Selig Benacerraf Greene syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Selig Benacerraf Greene 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 foot - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicornuate uterus - Congenital onset - Hypertelorism - Hypertension - Low-set ears - Oligohydramnios - Potter facies - Primary amenorrhea - Proteinuria - Pulmonary hypoplasia - Retrognathia - Talipes equinovarus - Vaginal atresia - 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: Benign paroxysmal positional vertigo
Question: What are the symptoms of Benign paroxysmal positional vertigo ?
Answer: What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. 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 - Gait imbalance - Slow progression - Vertigo - 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: Autoimmune autonomic ganglionopathy
Question: What is (are) Autoimmune autonomic ganglionopathy ?
Answer: Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; constipation; fixed and dilated pupils; urinary retention; and/or dry mouth and eyes. The exact underlying cause of AAG is poorly understood. Treatment depends on many factors including the severity of the condition and the signs and symptoms present in each person. Due to the rarity of AAG, there are no standard treatment protocols; however, treatment with plasmapheresis, intravenous (IV) immunoglobulin, corticosteroids or immunosuppressive drugs has been reported with variable success. Approximately one third of affected people may improve spontaneously without treatment, but the recovery is often incomplete.
Source: GARD
Topic: Autoimmune autonomic ganglionopathy
Question: What are the symptoms of Autoimmune autonomic ganglionopathy ?
Answer: What are the signs and symptoms of autoimmune autonomic ganglionopathy? The symptoms of autoimmune autonomic ganglionopathy can include: Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years Fainting Constipation and gastrointestinal dysmotility (a condition in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently) Urinary retention Fixed and dilated pupils Dry mouth and eyes Some people with autoimmune autonomic ganglionopathy present with POTS-like symptoms.
Source: GARD
Topic: Autoimmune autonomic ganglionopathy
Question: What causes Autoimmune autonomic ganglionopathy ?
Answer: What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high titers of ganglionic acetylcholine receptor antibody (g-AchR antibody).. About 60% of cases follow an infection or other illness.
Source: GARD
Topic: Autoimmune autonomic ganglionopathy
Question: What are the treatments for Autoimmune autonomic ganglionopathy ?
Answer: How might autoimmune autonomic ganglionopathy be treated? Since autoimmune autonomic ganglionopathy is so rare, no standard treatments have been established. Experts familiar with this condition often use plasma exchange or total plasmapheresis, intravenous immunoglobulin (IVIG), IV corticosteroids, or immunosuppressive drugs, such as Rituxan to treat the symptoms of the disease. A therapeutic trial for autoimmune autonomic ganglionopathy is currently being conducted by the Autonomic Disorders Consortium.
Source: GARD
Topic: Stuve-Wiedemann syndrome
Question: What is (are) Stuve-Wiedemann syndrome ?
Answer: Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR) on chromosome 5p13. The majority of patients die during the neonatal period. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. Treatment is symptomatic and supportive.
Source: GARD
Topic: Stuve-Wiedemann syndrome
Question: What are the symptoms of Stuve-Wiedemann syndrome ?
Answer: What are the signs and symptoms of Stuve-Wiedemann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stuve-Wiedemann 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 autonomic nervous system 90% Feeding difficulties in infancy 90% Hyperhidrosis 90% Hypohidrosis 90% Micromelia 90% Paresthesia 90% Short stature 90% Skeletal dysplasia 90% Apnea 50% Asthma 50% Camptodactyly of toe 50% Genu valgum 50% Impaired pain sensation 50% Intrauterine growth retardation 50% Lacrimation abnormality 50% Oligohydramnios 50% Recurrent fractures 50% Respiratory insufficiency 50% Scoliosis 50% Talipes 50% Hypothyroidism 7.5% Muscular hypotonia 7.5% Sacral dimple 7.5% Abnormal metaphyseal trabeculation - Abnormality of dental enamel - Absent patellar reflexes - Adducted thumb - Autosomal recessive inheritance - Blotching pigmentation of the skin - Broad ischia - Contracture of the proximal interphalangeal joint of the 5th finger - Dysautonomia - Dysphagia - Elbow flexion contracture - Episodic fever - Feeding difficulties - Femoral bowing - Flared metaphysis - Frontal bossing - Hoarse voice - Hypoplasia of midface - Hypoplastic iliac body - Knee flexion contracture - Low-set ears - Malar flattening - Metaphyseal rarefaction - Myotonia - Nasal speech - Opacification of the corneal stroma - Osteoporosis - Pathologic fracture - Pulmonary arterial medial hypertrophy - Pulmonary hypertension - Pulmonary hypoplasia - Pursed lips - Short neck - Short nose - Short palpebral fissure - Short phalanx of finger - Short tibia - Single transverse palmar crease - Smooth tongue - Square face - Talipes valgus - Thickened cortex of long bones - Thin ribs - Thin skin - Tibial bowing - Ulnar deviation of finger - Wide nasal base - 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: Lipodermatosclerosis
Question: What is (are) Lipodermatosclerosis ?
Answer: Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.
Source: GARD
Topic: Lipodermatosclerosis
Question: What are the symptoms of Lipodermatosclerosis ?
Answer: What are the signs and symptoms of lipodermatosclerosis? Lipodermatosclerosis refers to changes in the skin of the lower legs. One or both legs may be involved. Signs and symptoms vary but may include: Pain Hardening and/or thickening of the skin Varicose veins Changes in skin color (redness) Small white scarred areas (atrophie blanche) Swelling Leg ulcers Tapering of the legs above the ankles
Source: GARD
Topic: Lipodermatosclerosis
Question: What causes Lipodermatosclerosis ?
Answer: What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese.
Source: GARD
Topic: Lipodermatosclerosis
Question: How to diagnose Lipodermatosclerosis ?
Answer: How is lipodermatosclerosis diagnosed? Lipodermatosclerosis is usually diagnosed based on the presence of characteristic signs and symptoms. A skin biopsy and/or blood tests are usually not required to confirm a diagnosis but may be performed in rare cases. Ultrasound scans and/or magnetic resonance imaging (MRI) may be used to obtain more information regarding the severity of the condition and to determine the best treatment approach.
Source: GARD
Topic: Lipodermatosclerosis
Question: What are the treatments for Lipodermatosclerosis ?
Answer: How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if overweight or obese. Some affected people may require medications to prevent blood clotting; reduce pain and inflammation; and/or increase blood flow. Depending on the severity of the condition and the response to initial treatments, vein surgery may be recommended.
Source: GARD
Topic: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Question: What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?
Answer: What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. 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) Facial palsy 5% Abnormality of pelvic girdle bone morphology - Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Back pain - Difficulty climbing stairs - Distal amyotrophy - Dysphasia - Dystonia - Elevated alkaline phosphatase of bone origin - Elevated serum creatine phosphokinase - Frontal cortical atrophy - Frontotemporal dementia - Gait disturbance - Limb muscle weakness - Lumbar hyperlordosis - Myopathy - Pelvic girdle amyotrophy - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - Scapular winging - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Temporal cortical atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD