Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Acanthosis nigricans muscle cramps acral enlargement ? 
 What are the signs and symptoms of Acanthosis nigricans muscle cramps acral enlargement? The Human Phenotype Ontology provides the following list of signs and symptoms for Acanthosis nigricans muscle cramps acral enlargement. 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) Acanthosis nigricans - Autosomal recessive inheritance - Insulin resistance - Muscle cramps - 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 Chitayat Meunier Hodgkinson syndrome ? 
 What are the signs and symptoms of Chitayat Meunier Hodgkinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chitayat Meunier Hodgkinson 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 the fingernails 90% Abnormality of the nose 90% Clinodactyly of the 5th finger 90% Delayed skeletal maturation 90% Epicanthus 90% Frontal bossing 90% Glossoptosis 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Long philtrum 90% Oral cleft 90% Proptosis 90% Proximal placement of thumb 90% Sandal gap 90% Short distal phalanx of finger 90% Triphalangeal thumb 90% Underdeveloped supraorbital ridges 90% Abnormal hair quantity 50% Abnormality of dental color 50% Carious teeth 50% Microdontia 50% Cleft palate - Easily subluxated first metacarpophalangeal joints - Hyperconvex nail - Pierre-Robin sequence - Tapered finger - 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.
What is (are) Childhood ovarian cancer ? 
 Childhood ovarian cancer is a rare type of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. The childhood form, specifically, is extremely rare and accounts for less than 5% of all ovarian cancer cases. The most common types of ovarian cancers diagnosed in children and adolescents include germ cell tumors, followed by epithelial tumors, stromal tumors, and then other tumors (such as Burkitt lymphoma and small cell carcinoma of the ovary). Many people with early ovarian cancer have no signs or symptoms of the condition. When present, symptoms may include painful menstrual periods; an abdominal lump; pain or swelling in the abdomen; having male sex traits (i.e. body hair or a deep voice); and/or early signs of puberty. The underlying cause of childhood ovarian cancer is often unknown. Certain inherited conditions, such as Ollier disease, Maffucci syndrome and Peutz-Jeghers syndrome are associated with an increased risk of developing childhood ovarian cancer. Treatment varies based on many factors including the type of ovarian tumor and the severity of the condition. It may include surgery, radiation therapy, and/or chemotherapy.
What is (are) Progressive deafness with stapes fixation ? 
 Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing. This condition may be associated with a number of conditions, including ostosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis). The progression of hearing loss is generally slow, rarely profound, and usually resolves following treatment. Conductive hearing loss can be restored through surgery or hearing aids. Sensorineural hearing loss can be managed with hearing aids or cochlear implants.
What are the symptoms of Progressive deafness with stapes fixation ? 
 What are the signs and symptoms of Progressive deafness with stapes fixation? Deafness, progressive with stapes fixation is characterized by bilateral hearing loss - either conductive or mixed - and stapes fixation. Hearing loss typically begins between ages 8 and 24. The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive deafness with stapes fixation. 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 - Bilateral conductive hearing impairment - Stapes ankylosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Progressive deafness with stapes fixation ? 
 What causes deafness, progressive with stapes fixation? The exact cause of deafness, progressive with stapes fixation depends on whether it is associated with an underlying condition or infection. Isolated cases may be inherited.  Autosomal dominant, autosomal recessive, and X-linked cases have been reported. In some cases, no underlying cause can be identified.
What are the treatments for Progressive deafness with stapes fixation ? 
 How might deafness, progressive with stapes fixation be treated? Treatment for deafness, progressive with stapes fixation typically involves surgery. The conductive component of the hearing loss can be restored by surgery or hearing aids. The associated sensorineural component is managed by hearing aids or cochlear implants, depending on its severity. Stapedotomy (a procedure where a laser is used to make a hole in the stapes) or partial stapedectomy (removal of the stapes) with stapes replacement using a prostheses most commonly achieves satisfactory results with minimal complications.
What are the symptoms of Progeroid syndrome Petty type ? 
 What are the signs and symptoms of Progeroid syndrome Petty type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome Petty 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) Abnormal dermatoglyphics 90% Abnormality of hair texture 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Anonychia 90% Broad forehead 90% Cutis laxa 90% Decreased skull ossification 90% Epicanthus 90% Hypertrichosis 90% Intrauterine growth retardation 90% Lipoatrophy 90% Low-set, posteriorly rotated ears 90% Mandibular prognathia 90% Prematurely aged appearance 90% Reduced number of teeth 90% Sacrococcygeal pilonidal abnormality 90% Shagreen patch 90% Short distal phalanx of finger 90% Short stature 90% Strabismus 90% Thick eyebrow 90% Umbilical hernia 90% 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) Hantavirus pulmonary syndrome ? 
 Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especially in the thighs, hips, and/or back), and sometimes include headaches, dizziness, chills, and abdominal problems such as nausea, vomiting, diarrhea, and pain. Later symptoms of the syndrome occur 4 to 10 days after initial onset and include coughing and shortness of breath. HPS can be fatal; approximately 38% of individuals with HPS do not survive. There is no cure or specific treatment for HPS, but early diagnosis and treatment in intensive care may increase the chance of recovery.
What is (are) Mycobacterium Malmoense ? 
 Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. Skin and tissue infections with M. malmoense have also been described. In young children, M. Malmoense may cause an infection of lymphnodes in the neck (i.e., cervical lymphadenitis).
What are the symptoms of Mycobacterium Malmoense ? 
 What are the signs and symptoms of mycobacterium malmoense infection? Many cases of M. malmoense infection cause no symptoms, and as a result go unrecognized. M. malmoense infections in adults often present as lung infections with or without fever. In children, M. malmoense infections can present as a single sided, non-tender, enlarging, neck mass. The mass may be violet in color and often does not respond to conventional antibiotic therapy. M. malmoense infection can also cause skin lesions or abscesses.
What causes Mycobacterium Malmoense ? 
 How are mycobacterium malmoense infections contracted? M. Malmoense infection may be acquired by breathing in or ingesting the bacteria, or through trauma, such as an injury or surgical incision. People who have suppressed immune systems are at an increased risk for developing signs and symptoms from these infections.
What is (are) Holt-Oram syndrome ? 
 Holt-Oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. Affected people have at least one bone abnormality in the wrist, many of which can be detected only by X-ray. Additional skeletal abnormalities may also be present. About 75% of affected people have heart problems, including congenital heart defects and/or cardiac conduction disease (an abnormality in the electrical system that coordinates contractions of the heart chambers). Holt-Oram syndrome is caused by mutations in the TBX5 gene and is inherited in an autosomal dominant manner. Most cases result from new mutations in the gene and occur in people with no family history of the condition.
What causes Holt-Oram syndrome ? 
 What causes Holt-Oram syndrome? Holt-Oram syndrome is caused by changes (mutations) in the TBX5 gene. This gene gives the body instructions for making a protein involved in the development of the heart and upper limbs before birth. In particular, this gene seems important for dividing the developing heart into four chambers, and in regulating the development of bones in the arms and hands. When the TBX5 gene doesn't function properly, the features of Holt-Oram syndrome result. In some cases the mutation occurs for the first time in an affected person, while in other cases the mutation is inherited from a parent. However, in both of these cases, there is nothing a parent can do to cause this mutation or condition in a child.
Is Holt-Oram syndrome inherited ? 
 How is Holt-Oram syndrome inherited? Holt-Oram syndrome (HOS) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. In most cases, the mutation in the gene occurs for the first time in the affected person and is not inherited from a parent. When a mutation occurs for the first time, it is called a de novo mutation. This is what typically occurs when there is no family history of the condition. A de novo mutation is due to a random change in the DNA in an egg or sperm cell, or right after conception. In some cases, an affected person inherits the mutated copy of the gene from an affected parent. In these cases, the symptoms and severity can differ from those of the affected parent.  When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the condition.
How to diagnose Holt-Oram syndrome ? 
 How is Holt-Oram syndrome diagnosed? The diagnosis of Holt-Oram syndrome can be established based on physical features and family history. It can be confirmed through genetic testing looking for mutations in the TBX5 gene. Hand x-rays are usually performed for upper-limb malformations. A family history of this condition and/or cogenital heart malformations is also used as a diagnostic tool as a congenital heart malformation is present in 75% of individuals with Holt-Oram syndrome. An echocardiogram and electrocardiogram can be used to determine the presence and severity of heart defects and/or cardiac conduction disease. Holt-Oram syndrome can be excluded in individuals with congenital malformations involving the following structures or organ systems: ulnar ray only, kidney, vertebra, head and face region, auditory system (hearing loss or ear malformations), lower limb, anus, or eye.
What are the treatments for Holt-Oram syndrome ? 
 How might Holt-Oram syndrome be treated? The treatment of Holt-Oram syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists such as pediatricians, surgeons, cardiologists, orthopedists, and/or other health care professionals. Depending upon the severity of any upper limb abnormalities, treatment may consist of corrective or reconstructive surgery, the use of artificial replacements for portions of the forearms and hands (limb prosthetics), and/or physical therapy to help individuals enhance their motor skills. In those with mild cardiac conduction abnormalities, treatment may not be required. In more severe cases, an artificial pacemaker may be used. An artificial pacemaker overrides the heart's impaired electrical conducting system by sending electrical impulses to the heart that keep the heartbeat at a regular rate. Heart abnormalities may also be treated with certain medications, surgery, and/or other techniques. In such cases, the surgical procedures performed will depend upon the location and severity of the abnormalities and their associated symptoms. Affected individuals with heart defects may also be at risk for bacterial infection and inflammation of the lining of the heart's chambers and valves (endocarditis). So antibiotics should be prescribed before any surgical procedure, including dental procedures such as tooth extractions. In addition, because some individuals with certain heart defects may be susceptible to repeated respiratory infections, physicians may closely monitor such individuals to take preventive steps and to institute antibiotic and/or other appropriate therapies should such infections occur. Early intervention is important to ensure that children with Holt-Oram syndrome reach their potential. Special services that may be beneficial to affected children may include physical therapy and/or other medical, social, and/or vocational services.
What are the symptoms of Corneal dystrophy crystalline of Schnyder ? 
 What are the signs and symptoms of Corneal dystrophy crystalline of Schnyder? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy crystalline of Schnyder. 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 - Corneal dystrophy - Crystalline corneal dystrophy - 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 Chromosome 17q11.2 deletion syndrome ? 
 What are the signs and symptoms of Chromosome 17q11.2 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q11.2 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of dental enamel 50% Alopecia 50% Cognitive impairment 50% Microcephaly 50% Short stature 50% Long foot 46% Intellectual disability 38% Abnormality of the eyelashes 7.5% Abnormality of the nasal alae 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Deviated nasal septum 7.5% Hypoplasia of the zygomatic bone 7.5% Long face 7.5% Macroorchidism 7.5% Midline defect of the nose 7.5% Neurological speech impairment 7.5% Seizures 7.5% Thin vermilion border 7.5% Axillary freckling 28/29 Cafe-au-lait spot 27/29 Cognitive impairment 27/29 Lisch nodules 27/29 Hypertelorism 25/29 Plexiform neurofibroma 22/29 Subcutaneous neurofibromas 22/29 Joint hypermobility 21/29 Spinal neurofibromas 9/14 Coarse facial features 17/29 Bone cyst 8/16 Delayed speech and language development 14/29 Large hands 13/28 Tall stature 13/28 Focal T2 hyperintense basal ganglia lesion 13/29 Muscular hypotonia 13/29 Specific learning disability 13/29 Scoliosis 12/28 Macrocephaly 9/23 Attention deficit hyperactivity disorder 8/24 Broad neck 9/29 Pectus excavatum 9/29 Abnormality of cardiovascular system morphology 8/28 Facial asymmetry 8/29 Neurofibrosarcoma 6/29 Optic glioma 5/27 Pes cavus 5/29 Low-set ears 4/29 Strabismus 4/29 Hearing impairment 3/29 Seizures 2/29 Autosomal dominant inheritance - Inguinal freckling - Overgrowth - Sporadic - 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 Neuhauser Daly Magnelli syndrome ? 
 What are the signs and symptoms of Neuhauser Daly Magnelli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Daly Magnelli 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 the gastric mucosa 90% Nystagmus 90% Incoordination 50% Abnormality of the cerebellum - Autosomal dominant inheritance - Duodenal ulcer - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.