sarnsrun/medquad huggingface dataset:
Topic: Osteopetrosis autosomal dominant type 2
Question: What are the symptoms of Osteopetrosis autosomal dominant type 2 ?
Answer: What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant 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) Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Aseptic necrosis 90% Bone pain 90% Facial palsy 90% Frontal bossing 90% Joint dislocation 90% Macrocephaly 90% Osteoarthritis 90% Osteomyelitis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Anemia 50% Genu valgum 50% Optic atrophy 50% Short stature 50% Visual impairment 50% Abnormality of leukocytes 7.5% Carious teeth 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypocalcemia 7.5% Bone marrow hypocellularity 5% Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral endplates - Autosomal dominant inheritance - Elevated serum acid phosphatase - Facial paralysis - Fractures of the long bones - Generalized osteosclerosis - Hip osteoarthritis - Juvenile onset - Mandibular osteomyelitis - Osteopetrosis - 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: X-linked Charcot-Marie-Tooth disease type 4
Question: What are the symptoms of X-linked Charcot-Marie-Tooth disease type 4 ?
Answer: What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 4. 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) Decreased nerve conduction velocity 90% Muscle weakness 90% Pes cavus 90% Skeletal muscle atrophy 90% Cognitive impairment 50% Hearing impairment 50% Impaired pain sensation 50% Kyphosis 50% Scoliosis 50% Gait disturbance 7.5% Incoordination 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Sensorineural hearing impairment 5% Elevated serum creatine phosphokinase - Intellectual disability - Motor axonal neuropathy - Sensory neuropathy - 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: Choroideremia
Question: What is (are) Choroideremia ?
Answer: Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern.
Source: GARD
Topic: Choroideremia
Question: What are the symptoms of Choroideremia ?
Answer: What are the signs and symptoms of Choroideremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroideremia. 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 retinal pigmentation 90% Myopia 90% Nyctalopia 90% Visual impairment 90% Chorioretinal atrophy - Chorioretinal degeneration - Choroideremia - Constriction of peripheral visual field - Progressive visual loss - 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: Achard syndrome
Question: What are the symptoms of Achard syndrome ?
Answer: What are the signs and symptoms of Achard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Achard 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) Arachnodactyly - Autosomal dominant inheritance - Brachycephaly - Broad skull - Joint laxity - 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: Geroderma osteodysplastica
Question: What is (are) Geroderma osteodysplastica ?
Answer: Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene.
Source: GARD
Topic: Geroderma osteodysplastica
Question: What are the symptoms of Geroderma osteodysplastica ?
Answer: What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. 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) Cutis laxa 90% Hyperextensible skin 90% Joint hypermobility 90% Recurrent fractures 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Abnormality of the hip bone 50% Muscular hypotonia 50% Scoliosis 50% Abnormality of epiphysis morphology 7.5% Cognitive impairment 7.5% Hernia 7.5% Hypoplasia of the zygomatic bone 7.5% Mandibular prognathia 7.5% Microcornea 7.5% Pectus carinatum 7.5% Pes planus 7.5% Platyspondyly 7.5% Prematurely aged appearance 7.5% Talipes 7.5% Autosomal recessive inheritance - Beaking of vertebral bodies - Biconcave vertebral bodies - Camptodactyly - Deeply set eye - Delayed speech and language development - Femoral bowing - Hyperextensibility of the finger joints - Hypoplasia of the maxilla - Intellectual disability - Malar flattening - Microcephaly - Osteopenia - Osteoporosis - Periodontitis - Severe short stature - Tibial bowing - Vertebral compression fractures - Wormian bones - 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: Juvenile Huntington disease
Question: What is (are) Juvenile Huntington disease ?
Answer: Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Juvenile HD is defined by the onset of symptoms before age 20 years and accounts for 5-10% of HD cases. It is inherited in an autosomal dominant pattern and is caused by a mutation called a trinucleotide repeat in the HTT gene. Most often, children with juvenile HD inherit the mutation repeat from their fathers, although on occasion they inherit it from their mothers. Juvenile Huntington disease has a rapid disease progression once symptoms present. There currently is no cure. Treatment is supportive and focused on increasing quality of life.
Source: GARD
Topic: Juvenile Huntington disease
Question: What are the symptoms of Juvenile Huntington disease ?
Answer: What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. Several of these symptoms are similar to those seen in Parkinson's disease, and they differ from the chorea seen in individuals who develop the disease as adults. People with juvenile HD may also have seizures and mental disabilities. The earlier the onset, the faster the disease seems to progress. The disease progresses most rapidly in individuals with juvenile or early-onset HD, and death often follows within 10 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile Huntington disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - 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: Juvenile Huntington disease
Question: What causes Juvenile Huntington disease ?
Answer: What causes Juvenile Huntington disease (HD)? Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. When the huntingtin protein is abnormally made, it is thought to lead to the death of neurons in certain areas of the brain, which causes the signs and symptoms of Juvenile HD. The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with juvenile HD, the CAG segment is repeated more than 60 times.
Source: GARD
Topic: Juvenile Huntington disease
Question: Is Juvenile Huntington disease inherited ?
Answer: How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms (anticipation). A larger number of repeats is usually associated with an earlier onset of signs and symptoms. Most often, children with juvenile HD inherit the expanded CAG trinucleotide repeat from their fathers, although on occasion they inherit it from their mothers.
Source: GARD
Topic: Juvenile Huntington disease
Question: How to diagnose Juvenile Huntington disease ?
Answer: How is Juvenile Huntington disease (HD) diagnosed? The diagnosis is usually made by experienced neurologists. A neurologist will often first obtain the persons medical history asking about recent intellectual or emotional problems, which may be indications of HD. A family history may be taken as well, looking for autosomal dominant inheritance in a family. Usually a clinical exam is also performed where the persons hearing, eye movements, strength, coordination, involuntary movements (chorea), sensation, reflexes, balance, movement, and mental status are examined. People with HD commonly have impairments in the way the eye follows or fixes on a moving target. Abnormalities of eye movements vary from person to person and differ, depending on the stage and duration of the illness. Genetic testing is usually done to confirm a diagnosis of juvenile HD in an individual who is exhibiting HD-like symptoms. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of repeats in the HD gene region.  GeneTests lists the names of laboratories that are performing genetic testing for Juvenile HD. To view the contact information for the clinical laboratories, conducting testing click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you.
Source: GARD
Topic: Juvenile Huntington disease
Question: What are the treatments for Juvenile Huntington disease ?
Answer: How might Juvenile Huntington disease (HD) be treated? Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease. Anticonvulsant drugs are usually prescribed to help prevent and control the seizures that occur in children with Juvenile HD. Tetrabenazine is often used to treat chorea. Antipsychotic drugs, such as haloperidol, or other drugs, such as clonazepam, may also help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. For depression, physicians may prescribe fluoxetine, sertraline, nortriptyline, or other drugs. Tranquilizers can help control anxiety and lithium may be prescribed to combat severe mood swings.
Source: GARD
Topic: Immunodeficiency without anhidrotic ectodermal dysplasia
Question: What are the symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia ?
Answer: What are the signs and symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency without anhidrotic ectodermal dysplasia. 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) IgA deficiency - IgG deficiency - Immunodeficiency - Impaired memory B-cell generation - Increased IgM level - Recurrent mycobacterium avium complex infections - 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: Chromosome 7q deletion
Question: What is (are) Chromosome 7q deletion ?
Answer: Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Spina bifida occulta
Question: What is (are) Spina bifida occulta ?
Answer: Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. SBO has an estimated prevalence of 12.4%.
Source: GARD
Topic: Spina bifida occulta
Question: What are the symptoms of Spina bifida occulta ?
Answer: What are the signs and symptoms of Spina bifida occulta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spina bifida occulta. 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 - Asymmetry of spinal facet joints - Autosomal dominant inheritance - Hydrocephalus - Multiple lipomas - Myelomeningocele - Spina bifida occulta - 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.
Source: GARD