sarnsrun/medquad huggingface dataset:
Topic: Thyroglossal tract cyst
Question: What are the treatments for Thyroglossal tract cyst ?
Answer: How might a thyroglossal duct cyst be treated? Surgical excision is the treatment of choice for uncomplicated thyroglossal duct cysts to prevent infection of the cyst. The Sistrunk procedure can be preformed to reduce the risk of recurrence. Infection of the cyst prior to surgery can make the removal more difficult and increase the chance for regrowth.
Source: GARD
Topic: Hand and foot deformity with flat facies
Question: What are the symptoms of Hand and foot deformity with flat facies ?
Answer: What are the signs and symptoms of Hand and foot deformity with flat facies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hand and foot deformity with flat facies. 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) Brachydactyly syndrome 90% Camptodactyly of finger 90% Depressed nasal bridge 90% High forehead 90% Long philtrum 90% Malar flattening 90% Abnormality of the palate 50% Coarse hair 50% Low posterior hairline 50% Muscular hypotonia 50% Abnormality of the foot - Autosomal dominant inheritance - Contractures of the interphalangeal joint of the thumb - Flat face - Intellectual disability - Metacarpophalangeal joint contracture - Neonatal hypotonia - Short stature - 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: Proximal chromosome 18q deletion syndrome
Question: What are the symptoms of Proximal chromosome 18q deletion syndrome ?
Answer: What are the signs and symptoms of Proximal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal chromosome 18q deletion 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) Absence of the pulmonary valve - Aortic valve stenosis - Asthma - Atopic dermatitis - Atresia of the external auditory canal - Atria septal defect - Autosomal dominant inheritance - Bifid uvula - Blepharophimosis - Broad-based gait - Cerebellar hypoplasia - Choanal stenosis - Chorea - Cleft palate - Cleft upper lip - Conductive hearing impairment - Congestive heart failure - Cryptorchidism - Delayed CNS myelination - Depressed nasal bridge - Dilatation of the ascending aorta - Downturned corners of mouth - Dysplastic aortic valve - Dysplastic pulmonary valve - Epicanthus - Failure to thrive in infancy - Flat midface - Growth hormone deficiency - Hypertelorism - Hypoplasia of midface - Hypospadias - Inguinal hernia - Intellectual disability - Joint laxity - Low anterior hairline - Macrotia - Malar flattening - Mandibular prognathia - Microcephaly - Micropenis - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Overlapping toe - Patent ductus arteriosus - Pes cavus - Pes planus - Phenotypic variability - Poor coordination - Prominent nose - Proximal placement of thumb - Recurrent respiratory infections - Rocker bottom foot - Scoliosis - Secretory IgA deficiency - Seizures - Sensorineural hearing impairment - Short neck - Short palpebral fissure - Short philtrum - Short stature - Sporadic - Stenosis of the external auditory canal - Strabismus - Talipes equinovarus - Tapetoretinal degeneration - Toe syndactyly - Tremor - Umbilical hernia - U-Shaped upper lip vermilion - Ventricular septal defect - Ventriculomegaly - 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: Neuronal ceroid lipofuscinosis
Question: What is (are) Neuronal ceroid lipofuscinosis ?
Answer: Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical features, the most recent classification system is primarily based on their underlying genetic cause. Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4B). Treatment options are limited to therapies that can help relieve some of the symptoms.
Source: GARD
Topic: Neuronal ceroid lipofuscinosis
Question: What are the symptoms of Neuronal ceroid lipofuscinosis ?
Answer: What are the signs and symptoms of Neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis. 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 electroretinogram 90% Abnormality of the retinal vasculature 90% Cognitive impairment 90% EEG abnormality 90% Muscular hypotonia 90% Ocular albinism 90% Seizures 90% Visual impairment 90% Abnormality of metabolism/homeostasis 50% Abnormality of movement 50% Developmental regression 50% Neurological speech impairment 50% Optic atrophy 50% Behavioral abnormality 7.5% Incoordination 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: Aicardi-Goutieres syndrome type 4
Question: What is (are) Aicardi-Goutieres syndrome type 4 ?
Answer: Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.
Source: GARD
Topic: Aicardi-Goutieres syndrome type 4
Question: What are the symptoms of Aicardi-Goutieres syndrome type 4 ?
Answer: What are the signs and symptoms of Aicardi-Goutieres syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 4. 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 - Cerebellar atrophy - Cerebral atrophy - Cerebral calcification - Convex nasal ridge - CSF lymphocytic pleiocytosis - Death in childhood - Dystonia - Elevated hepatic transaminases - Feeding difficulties - Hepatomegaly - Hepatosplenomegaly - Hydrocephalus - Infantile onset - Intrauterine growth retardation - Leukodystrophy - Low-set ears - Pancytopenia - Progressive microcephaly - Severe global developmental delay - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - 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: Spinal muscular atrophy type 3
Question: What are the symptoms of Spinal muscular atrophy type 3 ?
Answer: What are the signs and symptoms of Spinal muscular atrophy type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 3. 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) Areflexia of lower limbs - Autosomal recessive inheritance - Degeneration of anterior horn cells - EMG abnormality - Hand tremor - Hyporeflexia - Limb fasciculations - Muscle cramps - Muscle weakness - Progressive - Spinal muscular atrophy - Tongue fasciculations - 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: Laryngomalacia
Question: What is (are) Laryngomalacia ?
Answer: Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by "floppy" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. This obstruction causes a noise which may sound like nasal congestion or may be a more high-pitched sound (stridor). Airway sounds typically begin at 4-6 weeks of age. Affected infants have a higher risk of gastroesophageal reflux, and in severe cases may have feeding problems. In rare cases, hypoxemia or hypoventilation may interfere with normal growth and development. The cause of this condition is unknown, but it is thought to be due to delayed maturation of the supporting structures of the larynx. In more than 90% of cases it gradually improves on its own, and noises disappear by age 2 in virtually all infants.
Source: GARD
Topic: Laryngomalacia
Question: What are the symptoms of Laryngomalacia ?
Answer: What are the signs and symptoms of Laryngomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Laryngomalacia. 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% Laryngomalacia 90% Cleft palate 50% Non-midline cleft lip 50% Abnormality of the trachea - Autosomal dominant inheritance - Congenital laryngeal stridor - Respiratory distress - 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: Laryngomalacia
Question: Is Laryngomalacia inherited ?
Answer: Is laryngomalacia inherited? Laryngomalacia may be inherited in some instances. Only a few cases of familial laryngomalacia (occurring in more than one family member) have been described in the literature. In some of these cases, autosomal dominant inheritance has been suggested. Laryngomalacia has also been reported as being associated with various syndromes. In cases where these specific syndromes are inherited, a predisposition to being born with laryngomalacia may be present. However, even within a family, not all individuals affected with one of these syndromes will have the exact same signs and symptoms (including laryngomalacia). Syndromes that have been associated with laryngomalacia include diastrophic dysplasia, alopecia universalis congenital, XY gonadal dysgenesis, Costello syndrome, DiGeorge syndrome, and acrocallosal syndrome. The inheritance pattern depends upon the specific syndrome present.
Source: GARD
Topic: Pituitary hormone deficiency, combined 2
Question: What are the symptoms of Pituitary hormone deficiency, combined 2 ?
Answer: What are the signs and symptoms of Pituitary hormone deficiency, combined 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adrenal insufficiency - Autosomal recessive inheritance - Hypoglycemic seizures - Hypogonadism - Hypothyroidism - Neonatal hypoglycemia - Panhypopituitarism - Prolactin deficiency - Short stature - 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: Multiple epiphyseal dysplasia 1
Question: What are the symptoms of Multiple epiphyseal dysplasia 1 ?
Answer: What are the signs and symptoms of Multiple epiphyseal dysplasia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 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 the hip bone 50% Arthralgia 50% Brachydactyly syndrome 50% Micromelia 50% Genu valgum 7.5% Genu varum 7.5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Delayed epiphyseal ossification - Disproportionate short-limb short stature - Epiphyseal dysplasia - Generalized joint laxity - Hip osteoarthritis - Irregular epiphyses - Irregular vertebral endplates - Joint stiffness - Limited hip movement - Mild short stature - Ovoid vertebral bodies - Short femoral neck - Short metacarpal - Short phalanx of finger - Small epiphyses - Waddling 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.
Source: GARD
Topic: 5q- syndrome
Question: What are the symptoms of 5q- syndrome ?
Answer: What are the signs and symptoms of 5q- syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q- 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 cells of the megakaryocyte lineage - Autosomal dominant contiguous gene syndrome - Erythroid hypoplasia - Myelodysplasia - Refractory macrocytic anemia - Somatic mutation - 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: Malakoplakia
Question: What is (are) Malakoplakia ?
Answer: Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney.  Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. E. coli  is the most common organism found in urine samples. Common symptoms of malakoplakia of the kidney include flank pain and signs of active kidney infection. It may affect one or both kidneys and can cause symptoms similar to that of kidney failure.Careful studies of the involved tissues can help to distinguish malakoplakia of the kidney from similar conditions, namely xanthogranulomatous pyelonephritis and megalocytic interstitial nephritis.
Source: GARD