Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Chromosome 8p23.1 deletion ? 
 What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. 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) Cognitive impairment 90% Intrauterine growth retardation 90% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the pulmonary artery 50% Attention deficit hyperactivity disorder 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Epicanthus 50% External ear malformation 50% High forehead 50% Microcephaly 50% Narrow forehead 50% Neurological speech impairment 50% Seizures 50% Short neck 50% Short stature 50% Weight loss 50% Abnormality of the aorta 7.5% Abnormality of thumb phalanx 7.5% Congenital diaphragmatic hernia 7.5% Deeply set eye 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplastic left heart 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Tetralogy of Fallot 7.5% Transposition of the great arteries 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 is (are) Chanarin-Dorfman syndrome ? 
 Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.
What are the symptoms of Chanarin-Dorfman syndrome ? 
 What are the signs and symptoms of Chanarin-Dorfman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chanarin-Dorfman 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 blood and blood-forming tissues - Alopecia - Ataxia - Autosomal recessive inheritance - Congenital nonbullous ichthyosiform erythroderma - Ectropion - Hepatic steatosis - Hepatomegaly - Intellectual disability - Microtia - Muscle weakness - Myopathy - Nystagmus - Sensorineural hearing impairment - Strabismus - Subcapsular cataract - 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) Spondylocostal dysostosis 3 ? 
 Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited.  Spondylocostal dysostosis 3 is caused by mutations in the LFNG gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
What are the symptoms of Spondylocostal dysostosis 3 ? 
 What are the signs and symptoms of Spondylocostal dysostosis 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Slender finger - Supernumerary vertebral ossification centers - 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) Serpiginous choroiditis ? 
 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.
What causes Serpiginous choroiditis ? 
 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.
Is Serpiginous choroiditis inherited ? 
 Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described.
What are the treatments for Serpiginous choroiditis ? 
 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.
What are the symptoms of Facio thoraco genital syndrome ? 
 What are the signs and symptoms of Facio thoraco genital syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Facio thoraco genital 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 recessive inheritance - Glandular hypospadias - Long philtrum - Microphthalmia - Pectus excavatum - Prominent scrotal raphe - Shawl scrotum - Small nail - Smooth philtrum - Wide intermamillary distance - 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) Buschke Lowenstein tumor ? 
 Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus.  This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues.  These tumors rarely spread to other parts of the body.  Treatment of these tumors begins with removal by surgery.  Chemotherapy and radiation therapy have also been shown to be effective treatments for this tumor type.
What are the symptoms of Congenital myasthenic syndrome with episodic apnea ? 
 What are the signs and symptoms of Congenital myasthenic syndrome with episodic apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome with episodic apnea. 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 immune system - Apneic episodes precipitated by illness, fatigue, stress - Autosomal recessive inheritance - Bulbar palsy - Congenital onset - Decreased miniature endplate potentials - Dysphagia - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Fatigable weakness - Generalized hypotonia due to defect at the neuromuscular junction - Ophthalmoparesis - Poor suck - Ptosis - Respiratory distress - Respiratory insufficiency due to muscle weakness - Strabismus - Sudden episodic apnea - Type 2 muscle fiber atrophy - Weak cry - 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 Microphthalmia syndromic 8 ? 
 What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. 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 affecting the eye 90% Cognitive impairment 90% Mandibular prognathia 90% Median cleft lip 90% Microcephaly 90% Split foot 90% Cryptorchidism 50% Triphalangeal thumb 50% Visual impairment 50% Ventricular septal defect 7.5% Blepharophimosis - Cleft palate - Intellectual disability - Microcornea - Microphthalmia - Oral cleft - Premature skin wrinkling - Short palpebral fissure - Widely-spaced maxillary central incisors - 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 Mesomelic dwarfism of hypoplastic tibia and radius type ? 
 What are the signs and symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism of hypoplastic tibia and radius 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) Autosomal dominant inheritance - Hypoplasia of the radius - Mesomelic short stature - Neonatal short-limb short stature - Pseudoarthrosis - Short tibia - 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) Infantile-onset ascending hereditary spastic paralysis ? 
 Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern.
What are the symptoms of Infantile-onset ascending hereditary spastic paralysis ? 
 What are the signs and symptoms of Infantile-onset ascending hereditary spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile-onset ascending hereditary spastic paralysis. 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 pyramidal signs 90% Feeding difficulties in infancy 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Abnormality of eye movement 50% Pseudobulbar signs 50% Abnormal lower motor neuron morphology - Abnormality of the corticospinal tract - Abnormality of the eye - Abnormality of the face - Achilles tendon contracture - Anarthria - Autosomal recessive inheritance - Babinski sign - Chewing difficulties - Dysarthria - Infantile onset - Motor delay - Muscle weakness - Pes cavus - Progressive - Scoliosis - Slow progression - Spastic paraplegia - Spastic tetraplegia - Tetraplegia - Urinary incontinence - 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) Polyembryoma ? 
 Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women).  Such tumors are called germ cell tumors.  Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy.  Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation.  Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy.  The cause of polyembryoma is not yet known.
What are the treatments for Polyembryoma ? 
 How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition.  However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible.  Chemotherapy, and sometimes radiation therapy, have also been used after surgery to destroy any cancer cells that may remain.
What is (are) Osteopetrosis autosomal dominant type 1 ? 
 Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
What are the symptoms of Osteopetrosis autosomal dominant type 1 ? 
 What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant 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) Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral column - Autosomal dominant inheritance - Conductive hearing impairment - Generalized osteosclerosis - Headache - Osteopetrosis - Thickened calvaria - 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.