bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Glutamine deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamine deficiency, congenital. 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) Death in infancy 7.5% Flexion contracture 5% Micromelia 5% Apnea - Autosomal recessive inheritance - Bradycardia - Brain atrophy - CNS hypomyelination - Depressed nasal bridge - Encephalopathy - Hyperammonemia - Hyperreflexia - Hypoplasia of the corpus callosum - Low-set ears - Muscular hypotonia - Periventricular cysts - Respiratory insufficiency - Seizures - Severe global developmental delay - Skin rash - Subependymal cysts - Ventriculomegaly - 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.
Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate. It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person's lifetime. The inherited forms can be caused by mutations in the PLCD1 gene and generally involve the entire plate of all 20 nails. In some cases, leukonychia totalis has been associated with various other abnormalities or syndromes. Treatment may focus on the underlying cause when it is associated with another condition.
What are the signs and symptoms of Leukonychia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukonychia totalis. 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 fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - 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.
What causes leukonychia totalis? Leukonychia totalis (also called total leukonychia) is thought to be due to abnormal keratinization (conversion into keratin) of the nail plate. Keratin is a protein that is a major component of the epidermis (outer layer of skin), hair, nails, and horny tissues. The condition is usually inherited, following either an autosomal dominant or autosomal recessive inheritance pattern. These inherited forms can be caused by mutations in the PLCD1 gene. In some cases, leukonychia occurs in association with other underlying abnormalities or syndromes. Conditions that have been reported include palmoplantar keratoderma; certain types of cysts; severe keratosis pilaris; pili torti; hypotrichosis (lack of hair growth); onychorrhexis (brittle nails); koilonychia (spoon-shaped nails); Bart-Pumphrey syndrome; and Buschkell-Gorlin syndrome, when it occurs with sebaceous cysts and kidney stones. It has also reportedly been associated with typhoid fever, leprosy, cirrhosis, nail biting, trichinosis, and cytotoxic drugs (drugs that are toxic to cells). In a few cases, the cause of leukonychia is unknown (idiopathic).
Is leukonychia totalis inherited? Leukonychia totalis can be inherited in either an autosomal dominant or autosomal recessive manner. It may also occur as part of various underlying conditions or abnormalities, some of which have their own specific genetic cause(s) and inheritance patterns. In some cases, the condition is idiopathic (of unknown cause). Autosomal dominant inheritance means that having a change (mutation) in only one copy of the disease-causing gene is enough to cause signs or symptoms. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Autsomal recessive inheritance means that a person must have mutations in both copies of the disease-causing gene to have the condition. Usually, one mutated copy is inherited from each parent, who are each referred to as a carrier.  Carriers of an autosomal recessive condition typically do not have any signs or symptoms.
What are the signs and symptoms of Tremors, nystagmus and duodenal ulcers? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremors, nystagmus and duodenal ulcers. 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 gastric mucosa 90% Nystagmus 90% Incoordination 50% Abnormality of the cerebellum - Autosomal dominant inheritance - Duodenal ulcer - Tremor - 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.
Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.
How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year.
What are the signs and symptoms of Acrokeratoelastoidosis of Costa? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrokeratoelastoidosis of Costa. 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) Hyperkeratosis 90% Verrucae 90% Abnormality of the nail 50% Hyperhidrosis 50% Acrokeratosis - Autosomal dominant 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.
What are the signs and symptoms of Deafness, dystonia, and cerebral hypomyelination ? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, dystonia, and cerebral hypomyelination . 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) Optic atrophy 5% Seizures 5% Abnormal facial shape - Abnormal pyramidal signs - Cerebellar atrophy - Cerebral atrophy - Cerebral hypomyelination - CNS hypomyelination - Dystonia - Failure to thrive - Intellectual disability - Microcephaly - Sensorineural hearing impairment - Strabismus - Tetraplegia - 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.
What are the signs and symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker cyst with Renal-Hepatic-Pancreatic 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) Dandy-Walker malformation 90% Multicystic kidney dysplasia 90% Abnormality of the liver 50% Abnormality of the pancreas 50% Aplasia/Hypoplasia of the lungs 50% Intestinal malrotation 50% Oligohydramnios 50% Polyhydramnios 50% Bile duct proliferation - 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.
What are the signs and symptoms of Noonan syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 6. 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) Asymmetry of the thorax 100% Cryptorchidism 100% Curly hair 100% Generalized hypotonia 100% Hyperkeratosis 100% Hypertelorism 100% Low-set ears 100% Short stature 100% Webbed neck 100% Hypertrophic cardiomyopathy 3 of 4 Macrocephaly 3 of 4 Pulmonic stenosis 3 of 4 Intellectual disability, mild 2 of 4 Myopia 2 of 4 Delayed speech and language development 1 of 4 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.
What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. 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) Dementia 5% Distal sensory impairment 5% Abnormal lower motor neuron morphology - Abnormal upper motor neuron morphology - Abnormality of the nasopharynx - Adult onset - Amyotrophic lateral sclerosis - Aspiration - Autosomal dominant inheritance - Bowing of the vocal cords - Bulbar palsy - Bulbar signs - Decreased nerve conduction velocity - Distal muscle weakness - Dysarthria - Dysphagia - Elevated serum creatine phosphokinase - Hoarse voice - Hyperreflexia - Respiratory insufficiency due to muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - Variable expressivity - 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.
Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of several genes. This condition is inherited in an autosomal dominant manner; although most cases do not have a family history of this condition.
What are the signs and symptoms of Chromosome 1q41-q42 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 1q41-q42 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) Anteverted nares - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Coarse facial features - Congenital diaphragmatic hernia - Cryptorchidism - Deeply set eye - Depressed nasal bridge - Frontal bossing - Holoprosencephaly - Hypotelorism - Intellectual disability - Microcephaly - Microphthalmia - Microtia - Phenotypic variability - Preauricular skin tag - Seizures - Short stature - Talipes equinovarus - Upslanted palpebral fissure - Vertebral segmentation 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.
Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism. Surgery to remove the parathyroid gland(s) is the main treatment for the disorder. Some patients with mild disease do not require treatment.
What are the signs and symptoms of Kuster Majewski Hammerstein syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kuster Majewski Hammerstein 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) Abnormal hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - Widely spaced teeth - 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.