fenil210/Med-Lamma huggingface dataset:
What are the symptoms of WAGR syndrome ?
What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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) Aniridia 90% Aplasia/Hypoplasia of the iris 90% Cognitive impairment 90% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hearing abnormality 50% Hypospadias 50% Intellectual disability 50% Microcephaly 50% Nephroblastoma (Wilms tumor) 50% Nystagmus 50% Ptosis 50% Short stature 50% Visual impairment 50% Nephropathy 40% Abnormality of the vagina 33% Streak ovary 33% Abnormality of the uterus 7.5% Glaucoma 7.5% Gonadoblastoma 7.5% Hernia of the abdominal wall 7.5% Obesity 7.5% Scoliosis 7.5% Renal insufficiency 10/46 Autosomal dominant inheritance - Contiguous gene syndrome - Somatic mutation - 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. + GARD + WAGR syndrome
What is (are) Oculocutaneous albinism type 2 ?
Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion. + GARD + Oculocutaneous albinism type 2
What are the symptoms of Oculocutaneous albinism type 2 ?
What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 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) Ocular albinism 90% Freckling 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Melanoma 7.5% Neoplasm of the skin 7.5% Strabismus 7.5% Albinism - Autosomal recessive inheritance - Blue irides - Freckles in sun-exposed areas - Hypopigmentation of the fundus - Hypoplasia of the fovea - Red hair - Reduced visual acuity - 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. + GARD + Oculocutaneous albinism type 2
What is (are) Chiari malformation type 1 ?
Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem. Normally, only the spinal cord passes through this opening. This malformation is the most common type of Chiari malformation and may not cause any symptoms. Depending on the symptoms present and severity, some individuals may not require treatment while others may require pain medications or surgery. + GARD + Chiari malformation type 1
What are the symptoms of Chiari malformation type 1 ?
What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 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) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Chiari malformation type 1
What causes Chiari malformation type 1 ?
What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformation type 1 is acquired after birth. Causes of acquired Chiari malformation type 1 involve the excessive draining of spinal fluid from the lumbar or thoracic areas of the spine as a result of injury, exposure to harmful substances, or infection. Click here to view a diagram of the spine. + GARD + Chiari malformation type 1
What are the treatments for Chiari malformation type 1 ?
How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medications, muscle relaxants, and the occasional use of a soft collar. Individuals with more severe symptoms may be in need of surgery. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. The goals of surgical treatment are decompression of the point where the skull meets the spine (the cervicomedullary junction) and restoration of normal flow of cerebrospinal fluid in the region of the foramen magnum (the hole in the bottom of the skull where the spinal cord passes to connect to the brain). Prognosis after surgery for the condition is generally good and typically depends on the extent of neurological deficits that were present before the surgery. Most individuals have a reduction of symptoms and/or prolonged periods of relative stability. More than one surgery may be needed to treat the condition. + GARD + Chiari malformation type 1
What is (are) Neonatal intrahepatic cholestasis caused by citrin deficiency ?
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern. + GARD + Neonatal intrahepatic cholestasis caused by citrin deficiency
What are the symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency ?
What are the signs and symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency? Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, decreased coagulation factors, hemolytic anemia, hepatomegaly, variable liver dysfunction, and/or hypoglycemia in children younger than one year of age. NICCD is generally not severe, and symptoms typically disappear by age one year with appropriate treatment. At around age two, children with NICCD begin to show a particular fondness for protein-rich and fatty foods and an aversion to sugary and carbohydrate-rich foods. One of more decades later, some of these individuals develop neuropsychiatric symptoms characteristic of adult-onset citrullinemia type II.   The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal intrahepatic cholestasis caused by citrin deficiency. 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 - Cirrhosis - Elevated plasma citrulline - Failure to thrive - Growth delay - Hyperbilirubinemia - Hypercholesterolemia - Hypermethioninemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Intrahepatic cholestasis - 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. + GARD + Neonatal intrahepatic cholestasis caused by citrin deficiency
What is (are) Autosomal dominant nocturnal frontal lobe epilepsy ?
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep to severe, dramatic muscle spasm events. Some people with ADNFLE also have seizures during the day. Some episodes may be misdiagnosed as nightmares, night terrors, or panic attacks. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In many cases, the genetic cause remains unknown. Seizures can usually be controlled with antiseizure medications. + GARD + Autosomal dominant nocturnal frontal lobe epilepsy
What are the symptoms of Autosomal dominant nocturnal frontal lobe epilepsy ?
What are the signs and symptoms of Autosomal dominant nocturnal frontal lobe epilepsy? The seizures that occur in people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) usually occur at night while sleeping, but some affected people also have seizures during the day. The seizures tend to occur in clusters, with each one lasting from a few seconds to a few minutes. In some people, seizures are mild and only cause a person to wake from sleep. In others, severe episodes can cause sudden, dramatic muscle spasms, wandering around, and/or crying out or making other sounds. Episodes of seizures tend to become less frequent and more mild as an affected person ages. Some people with ADNFLE experience aura, which may cause neurological symptoms such as tingling, shivering, a sense of fear, dizziness, and/or a feeling of falling or being pushed. Feelings of breathlessness, hyperventilation, and choking have also been reported. Most people with ADNFLE are intellectually normal. Psychiatric disorders, behavioral problems and intellectual disability have been described in some people with ADNFLE, but it is unclear if these features are directly related to the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant nocturnal frontal lobe epilepsy. 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) Intellectual disability 5% Autosomal dominant inheritance - Behavioral abnormality - Focal seizures - Incomplete penetrance - Juvenile onset - Seizures - 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. + GARD + Autosomal dominant nocturnal frontal lobe epilepsy
How to diagnose Autosomal dominant nocturnal frontal lobe epilepsy ?
How is autosomal dominant nocturnal frontal lobe epilepsy diagnosed? The diagnosis of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is made on clinical grounds. The key to diagnosis is a detailed history from the affected person, as well as witnesses. Sometimes video-EEG monitoring is necessary. The features that are suggestive of a diagnosis of ADNFLE are: clusters of seizures with a frontal semiology seizures that occur predominantly during sleep normal clinical neurologic exam normal intellect (although reduced intellect, cognitive deficits, or psychiatric disorders may occur) normal findings on neuroimaging ictal EEG (recorded during a seizure) that may be normal or obscured by movement of the cables or electrodes interictal EEG (recorded in between seizures) that shows infrequent epileptiform discharges (distinctive patterns resembling those that occur in people with epilepsy) the presence of the same disorder in other family members, with evidence of autosomal dominant inheritance The diagnosis can be established in a person with the above features, combined with a positive family history and/or genetic testing that detects a mutation in one of the genes known to cause ADNFLE. People who are concerned they may be having seizures or other neurological signs or symptoms should be evaluated by a neurologist. + GARD + Autosomal dominant nocturnal frontal lobe epilepsy
What are the symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ?
What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. 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% Dandy-Walker malformation 90% Dolichocephaly 90% Frontal bossing 90% Hydrocephalus 90% Hypertelorism 90% Optic atrophy 90% Cognitive impairment 50% Strabismus 50% Autosomal dominant inheritance - Posterior fossa cyst - Sagittal craniosynostosis - 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. + GARD + Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
What are the symptoms of Ectrodactyly polydactyly ?
What are the signs and symptoms of Ectrodactyly polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly polydactyly. 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) Postaxial hand polydactyly 90% Split hand 90% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Finger syndactyly 50% Symphalangism affecting the phalanges of the hand 50% Autosomal recessive inheritance - Split foot - 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. + GARD + Ectrodactyly polydactyly
What are the symptoms of Schisis association ?
What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. 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) Anencephaly 90% Cleft palate 90% Non-midline cleft lip 90% Omphalocele 90% Congenital diaphragmatic hernia 50% Encephalocele 50% Spina bifida 50% Microcephaly 7.5% Micromelia 7.5% Renal hypoplasia/aplasia 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 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. + GARD + Schisis association