sarnsrun/medquad huggingface dataset:
Topic: Juvenile osteoporosis
Question: What are the symptoms of Juvenile osteoporosis ?
Answer: What are the signs and symptoms of Juvenile osteoporosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile osteoporosis. 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) Bone pain 90% Recurrent fractures 90% Reduced bone mineral density 90% Gait disturbance 50% Kyphosis 7.5% Autosomal recessive inheritance - Low serum calcitriol (1,25-dihydroxycholecalciferol) - Osteoporosis - 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: Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Question: What is (are) Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
Answer: Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes (mutations) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Question: What are the symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
Answer: What are the signs and symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius? Males with hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other signs and symptoms may include: Seizures Severe intellectual disability Spasticity Of note, HSAS is one form of L1 syndrome, which is an inherited condition that primarily affects the nervous system. Other forms include MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. All of the different forms of L1 syndrome may be observed in affected people within the same family. GeneReviews offers more specific information about the signs and symptoms associated with each form of L1 syndrome. Please click on the link to access this resource. The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus due to congenital stenosis of aqueduct of sylvius. 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) Aqueductal stenosis 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hydrocephalus 90% Increased intracranial pressure 90% Adducted thumb 50% Coarse facial features 7.5% Holoprosencephaly 7.5% Limitation of joint mobility 7.5% Nystagmus 7.5% Seizures 7.5% Strabismus 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Corticospinal tract hypoplasia - Intellectual disability - Macrocephaly - Spastic paraplegia - Spasticity - 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: Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Question: Is Hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited ?
Answer: Is hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited? Hydrocephalus due to congenital stenosis of aqueduct of sylvius is inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. The X chromosome is one of the two sex chromosomes (the other sex chromosome is the Y chromosome). Females have two X chromosomes in each cell and males have an X chromosome and a Y chromosome in each cell. Although females have two X chromosomes, one of the X chromosomes in each cell is "turned off" and all of the genes on that chromosome are inactivated. Females who have a change (mutation) in a gene on one of their X chromosomes are called carriers of the related condition. Carrier females usually do not have symptoms of the condition because the X chromosome with the mutated gene is often turned off and they have another X chromosome with a working copy of the gene. Sometimes, the X chromosome with the working copy of the gene is turned off, which may cause symptoms of the condition. However, females with symptoms are usually much more mildly affected than males. A male has only one X chromosome, so if he inherits a mutation on the X chromosome, he will have signs and symptoms (be affected). Males with an X-linked recessive condition always pass the mutated gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome to male offspring. Female carriers of an X-linked recessive condition have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have an affected son, and a 25% chance to have an unaffected son. This also means that each daughter of a carrier mother has a 50% chance of being a carrier, and each son has a 50% chance of having the condition.
Source: GARD
Topic: Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Question: How to diagnose Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
Answer: How is hydrocephalus due to congenital stenosis of aqueduct of sylvius diagnosed? A diagnosis of hydrocephalus due to congenital stenosis of aqueduct of sylvius is typically suspected based on the presence of characteristic signs and symptoms on physical examination and/or brain imaging (i.e. CT scan, MRI scan). Identification of a change (mutation) in the L1CAM gene can be used to confirm the diagnosis.
Source: GARD
Topic: Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Question: What are the treatments for Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
Answer: How might hydrocephalus due to congenital stenosis of aqueduct of sylvius be treated? The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. Special education and early intervention may be recommended for children with intellectual disability. Although intervention is rarely necessary for adducted thumbs (bent towards the palms), tendon transfer surgery or splinting may be suggested in some cases.
Source: GARD
Topic: Mental retardation X-linked, South African type
Question: What are the symptoms of Mental retardation X-linked, South African type ?
Answer: What are the signs and symptoms of Mental retardation X-linked, South African type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked, South African type. 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 cerebellum 90% Cognitive impairment 90% Decreased body weight 90% Incoordination 90% Long face 90% Macrotia 90% Narrow face 90% Neurological speech impairment 90% Seizures 90% Strabismus 90% Thick eyebrow 90% Adducted thumb 50% Aplasia/Hypoplasia of the corpus callosum 50% Autism 50% Cerebral cortical atrophy 50% Feeding difficulties in infancy 50% Gait disturbance 50% Microcephaly 50% Nystagmus 50% Ophthalmoparesis 50% Pectus excavatum 50% Ventriculomegaly 50% Deeply set eye 7.5% Joint hypermobility 7.5% Mandibular prognathia 7.5% Skeletal muscle atrophy 7.5% Abnormality of the foot - Absent speech - Bowel incontinence - Cerebellar atrophy - Drooling - Dysphagia - Flexion contracture - Happy demeanor - Hyperkinesis - Intellectual disability, progressive - Intellectual disability, severe - Long nose - Loss of ability to walk in first decade - Muscular hypotonia - Mutism - Narrow chest - Neuronal loss in central nervous system - Open mouth - Ophthalmoplegia - Photosensitive tonic-clonic seizures - Sleep disturbance - Slender finger - Truncal ataxia - Urinary incontinence - X-linked 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.
Source: GARD
Topic: Apocrine carcinoma
Question: What is (are) Apocrine carcinoma ?
Answer: Apocrine carcinoma is a cancer of a sweat gland.  Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body.  The cause of apocrine carcinoma is unknown.  Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in color and slowly increases in size.  The average age at the time of diagnosis is 62 years of age, and twice as many men are affected than women.  Most apocrine carcinomas can be treated and are not fatal.  Treatment of apocrine carcinoma is surgery to remove as much of the cancer as possible.  Additional treatments such as radiation therapy and chemotherapy have been used to treat this condition, but the usefulness of these treatments is unproven.
Source: GARD
Topic: Serpiginous choroiditis
Question: What is (are) Serpiginous choroiditis ?
Answer: Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years. Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue. Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in one or both eyes when the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.
Source: GARD
Topic: Serpiginous choroiditis
Question: What causes Serpiginous choroiditis ?
Answer: What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process.
Source: GARD
Topic: Serpiginous choroiditis
Question: Is Serpiginous choroiditis inherited ?
Answer: Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described.
Source: GARD
Topic: Serpiginous choroiditis
Question: What are the treatments for Serpiginous choroiditis ?
Answer: Is there any treatment for serpiginous choroiditis? There are a few treatment options for individuals with serpiginous choroiditis. Treatment may involve an anti-inflammatory medication, such as prednisone, or an immune system suppressing combination of prednisone, cyclosporine, and azathioprine. Additionally, the role of cyclosporine alone has been investigated. These treatments may be administered for a long period of time to prevent recurrences. A serious complication of serpiginous choroiditis is choroidal neovascularization. Laser photocoagulation or surgery may be helpful in some of these cases.
Source: GARD
Topic: Zellweger spectrum
Question: What is (are) Zellweger spectrum ?
Answer: Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.
Source: GARD
Topic: Lopes Gorlin syndrome
Question: What are the symptoms of Lopes Gorlin syndrome ?
Answer: What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin 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) Distichiasis 90% Photophobia 50% Absent lower eyelashes - Autosomal dominant inheritance - Hypoplasia of the lower eyelids - 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: N syndrome
Question: What are the symptoms of N syndrome ?
Answer: What are the signs and symptoms of N syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for N 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 chromosome stability 90% Acute leukemia 90% Cognitive impairment 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Hypertonia 90% Megalocornea 90% Sensorineural hearing impairment 90% Visual impairment 90% Hearing impairment - Hypospadias - Intellectual disability - Neoplasm - Spasticity - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Encephalomyopathy
Question: What are the symptoms of Encephalomyopathy ?
Answer: What are the signs and symptoms of Encephalomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalomyopathy. 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 visual evoked potentials 90% Aminoaciduria 90% Behavioral abnormality 90% Cerebral calcification 90% Cognitive impairment 90% Decreased body weight 90% Decreased nerve conduction velocity 90% Hearing impairment 90% Hypertrichosis 90% Incoordination 90% Microcephaly 90% Ptosis 90% Seizures 90% Short stature 90% Skeletal muscle atrophy 90% Ventriculomegaly 90% Visual impairment 90% Abnormality of the basal ganglia - Athetosis - Autosomal recessive inheritance - Cerebral atrophy - Decreased activity of mitochondrial respiratory chain - Delayed gross motor development - Dystonia - Elevated serum creatine phosphokinase - Facial diplegia - Failure to thrive - Feeding difficulties in infancy - Hyporeflexia - Infantile onset - Intellectual disability, progressive - Irritability - Lactic acidosis - Loss of ability to walk in early childhood - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Ophthalmoplegia - Peripheral neuropathy - Progressive encephalopathy - Respiratory insufficiency due to muscle weakness - Sensorineural hearing impairment - Spasticity - Strabismus - 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: Abruzzo Erickson syndrome
Question: What are the symptoms of Abruzzo Erickson syndrome ?
Answer: What are the signs and symptoms of Abruzzo Erickson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Abruzzo Erickson 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) Cleft palate 90% Displacement of the external urethral meatus 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Chorioretinal coloboma 50% Iris coloboma 50% Radioulnar synostosis 50% Sensorineural hearing impairment 50% Short stature 50% Ulnar deviation of finger 50% Abnormal localization of kidney 7.5% Abnormality of dental morphology 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Chin dimple 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Microcornea 7.5% Short toe 7.5% Toe syndactyly 7.5% Coloboma - Hearing impairment - Hypospadias - Protruding ear - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Ellis-Van Creveld syndrome
Question: What is (are) Ellis-Van Creveld syndrome ?
Answer: Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD