Druvith/medqa huggingface dataset:
What is (are) Oculocutaneous albinism ? 

Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes.  Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).  All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner.  Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses.
What are the symptoms of Oculocutaneous albinism ? 

What are the signs and symptoms of Oculocutaneous albinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutaneous photosensitivity 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Nystagmus 90% Ocular albinism 90% Visual impairment 90% Abnormality of the macula 50% Astigmatism 50% Hypermetropia 50% Myopia 50% Photophobia 50% Strabismus 50% Neoplasm of the skin 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.
What are the treatments for Oculocutaneous albinism ? 

What treatments are available for oculocutaneous albinism? Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision.  Affected individuals should cover their skin from sun exposure by using sunscreen and wearing protective clothing such as long-sleeve shirts, long pants, and hats with wide brims.  Glasses may be worn to reduce sensitivity to bright light or to improve vision.  Additional therapies or surgery may be used to treat crossed eyes (strabismus) or rapid eye movements (nystagmus).
What are the symptoms of Renal tubular dysgenesis ? 

What are the signs and symptoms of Renal tubular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular dysgenesis. 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 renal tubule 90% Aplasia/Hypoplasia of the lungs 90% Hypertelorism 90% Joint hypermobility 90% Polycystic kidney dysplasia 90% Polyhydramnios 90% Premature birth 90% Microcephaly 7.5% Nephropathy 7.5% Oligohydramnios 7.5% Single transverse palmar crease 7.5% Tetralogy of Fallot 7.5% Anuria - Autosomal recessive inheritance - Hypotension - Potter facies - Pulmonary hypoplasia - Renotubular dysgenesis - Respiratory insufficiency - Widely patent fontanelles and sutures - 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 is (are) Polycystic liver disease ? 

Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. Most cases are inherited in an autosomal dominant fashion. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD). In fact, about half of the people who have AD-PKD experience liver cysts. However, kidney cysts are uncommon in those affected by polycystic liver disease.
What are the symptoms of Polycystic liver disease ? 

What are the signs and symptoms of Polycystic liver disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic liver 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) Hepatomegaly 90% Polycystic kidney dysplasia 50% Abdominal pain 7.5% Abnormality of the pancreas 7.5% Aneurysm 7.5% Elevated alkaline phosphatase 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal hemorrhage 7.5% Respiratory insufficiency 7.5% Abdominal distention - Abnormality of the cardiovascular system - Abnormality of the nervous system - Ascites - Autosomal dominant inheritance - Back pain - Increased total bilirubin - Polycystic liver disease - Renal cyst - 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 symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ? 

What are the signs and symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis. 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 eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Hepatomegaly 90% Ichthyosis 90% Splenomegaly 90% Abnormality of dental enamel 7.5% Acanthosis nigricans 7.5% Portal hypertension 7.5% Reduced number of teeth 7.5% Abnormality of blood and blood-forming tissues - Alopecia - Autosomal recessive inheritance - Cholangitis - Dry skin - Hypodontia - Hypoplasia of dental enamel - Hypotrichosis - Jaundice - Oligodontia - Orthokeratosis - Parakeratosis - Sparse eyelashes - 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 is (are) CDKL5-related disorder ? 

A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often have severe intellectual disability with absent speech, and features that resemble Rett syndrome such as hand stereotypies (repetitive movements) and slowed head growth. CDKL5-related disorders have more commonly been reported in females. The inheritance pattern is X-linked dominant. Almost all reported cases have been due to a new mutation in the affected person; one family with 3 affected members has been described. Treatment is symptomatic. In the past, mutations in the CDKL5 gene have been found in people diagnosed with infantile spasms and/or West syndrome; Lennox-Gastaut syndrome; Rett syndrome; a form of atypical Rett syndrome known as the early-onset seizure type; and autism. However, it has more recently been suggested that CDKL5 mutations cause a separate, specific disorder with features that may overlap with these conditions.
What are the symptoms of Brachydactyly type A1 ? 

What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Short stature 90% Cone-shaped epiphysis 50% Abnormality of the metacarpal bones 7.5% Abnormality of the ulna 7.5% Clinodactyly of the 5th finger 7.5% Scoliosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Absent distal interphalangeal creases - Autosomal dominant inheritance - Broad metacarpal epiphyses - Broad palm - Distal symphalangism (hands) - Flattened metatarsal heads - Heterogeneous - Proportionate shortening of all digits - Radial deviation of the 2nd finger - Radial deviation of the 3rd finger - Radial deviation of the 4th finger - Short distal phalanx of finger - Short metacarpal - Short palm - Short proximal phalanx of hallux - Short proximal phalanx of thumb - Slender metacarpals - Thin proximal phalanges with broad epiphyses of the hand - 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 is (are) Spinocerebellar ataxia 2 ? 

Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulthood. SCA2 is caused by mutations in the ATXN2 gene and is inherited in an autosomal dominant manner.
What are the symptoms of Spinocerebellar ataxia 2 ? 

What are the signs and symptoms of Spinocerebellar ataxia 2? Early symptoms of spinocerebellar ataxia may include uncoordinated movement (ataxia) and leg cramps. Other symptoms may include tremor; decreased muscle tone; poor tendon reflexes; abnormal eye movements; dementia; dystonia and/or chorea; muscle twitches; nerve irritation and swelling (polyneuropathy); leg weakness; difficulty swallowing; bladder dysfunction; and parkinsonism. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 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) Autosomal dominant inheritance - Bradykinesia - Dementia - Dilated fourth ventricle - Distal amyotrophy - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysmetric saccades - Dysphagia - Fasciculations - Gaze-evoked nystagmus - Genetic anticipation - Hyporeflexia - Impaired horizontal smooth pursuit - Limb ataxia - Muscular hypotonia - Myoclonus - Oculomotor apraxia - Olivopontocerebellar atrophy - Ophthalmoplegia - Postural instability - Postural tremor - Progressive cerebellar ataxia - Rigidity - Rod-cone dystrophy - Slow saccadic eye movements - Spasticity - Spinocerebellar tract degeneration - Urinary bladder sphincter dysfunction - 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.
Is Spinocerebellar ataxia 2 inherited ? 

How is spinocerebellar ataxia 2 inherited? Spinocerebellar ataxia 2 (SCA2) is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of ATXN2 (the responsible gene) in each cell is enough to cause signs and symptoms of the condition. The ATXN2 gene mutations that cause SCA2 involve a DNA sequence called a 'CAG trinucleotide repeat.' It is made up of a series of three DNA building blocks (CAG stands for cytosine, adenine, and guanine) that appear multiple times in a row. The CAG sequence is normally repeated about 22 times in the gene, but it can be repeated up to 31 times without causing health problems. SCA2 develops in people who have 32 or more CAG repeats in the ATXN2 gene. In most cases, an affected person inherits the mutated gene (with too many repeats) from an affected parent. However, in some cases, an affected person does not have an affected parent. People with an increased number of CAG repeats who don't develop SCA2 are still at risk of having children who will develop the disorder. This is because as the gene is passed down from parent to child, the number of CAG repeats often increases. In general, the more repeats a person has, the earlier symptoms begin. This phenomenon is called anticipation. People with 32 or 33 repeats tend to develop symptoms in late adulthood, while people with more than 45 repeats often have symptoms by their teens.  For some reason, the number of repeats tend to increase more when the gene is inherited from a person's father than when inherited from a person's mother. Each child of an affected person has a 50% chance of inheriting the CAG repeat expansion.
How to diagnose Spinocerebellar ataxia 2 ? 

Is genetic testing available for spinocerebellar ataxia 2? Yes. Molecular genetic testing (analysis of DNA) is needed for a diagnosis of spinocerebellar ataxia 2 (SCA2). This testing detects abnormal CAG trinucleotide repeat expansions in the ATXN2 gene. Affected people (or people who will later develop symptoms of SCA2) have a copy of the ATXN2 gene that has 33 or more CAG repeats. This testing detects nearly 100% of cases of SCA2. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for SCA2. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
What are the treatments for Spinocerebellar ataxia 2 ? 

How might spinocerebellar ataxia 2 be treated? Treatment of spinocerebellar ataxia 2 (SCA2) is supportive and aims to help the affected person maintain their independence and avoid injury. It is recommended that people with SCA2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and avoid alcohol and medications that affect cerebellar function. Adaptive equipment may include canes or other devices to help with walking and mobility. People with SCA2 may develop difficulty speaking and may need to use computerized devices or writing pads to help with communication. Levodopa may be prescribed to help with some of the movement problems (e.g., rigidity and tremor), and magnesium may improve muscle cramping.
What are the symptoms of Ulna hypoplasia with mental retardation ? 

What are the signs and symptoms of Ulna hypoplasia with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna hypoplasia with mental retardation. 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 fontanelles or cranial sutures 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Cognitive impairment 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Muscular hypotonia 90% Short stature 90% Talipes 90% Ulnar deviation of finger 90% Abnormality of thumb phalanx 50% Preaxial foot polydactyly 50% Absent fingernail - Absent toenail - Autosomal recessive inheritance - Bilateral ulnar hypoplasia - Intellectual disability, profound - Limitation of knee mobility - Limited elbow movement - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Pallister-Killian mosaic syndrome ? 

Pallister-Killian mosaic syndrome is a disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of the Pallister-Killian mosaic syndrome can vary, although most documented cases of people with the syndrome have severe to profound intellectual disability and other serious health problems. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome 12 called isochromosome 12p. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases.
What is (are) Punctate inner choroidopathy ? 

Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid of the eye and occurs predominantly in young, nearsighted (myopic) women. Signs and symptoms may include scotomata, blurred vision, photopsias, floaters, photophobia, distorted vision (metamorphopsia), and/or loss of peripheral vision. The majority of cases are self-limited with good visual prognosis, but permanent and severe visual loss can occur as a result of the development of choroidal neovascular membranes (CNV). The cause of PIC is not known, but it is thought to involve both genetic predisposition and environmental factors. The majority of affected individuals who do not have CNV do not require treatment; for others, treatment may include medication, laser photocoagulation, photodynamic therapy (treatment with drugs that become active when exposed to light) and/or surgery.