sarnsrun/medquad huggingface dataset:
Topic: Spinocerebellar ataxia 10
Question: What are the symptoms of Spinocerebellar ataxia 10 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 10. 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 - Abnormality of extrapyramidal motor function - Autosomal dominant inheritance - Cerebellar atrophy - Decreased nerve conduction velocity - Dementia - Depression - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysphagia - Gait ataxia - Genetic anticipation - Hyperreflexia - Incomplete penetrance - Incoordination - Limb ataxia - Morphological abnormality of the pyramidal tract - Nystagmus - Progressive cerebellar ataxia - Scanning speech - Seizures - Urinary incontinence - Urinary urgency - 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: Spinal muscular atrophy Ryukyuan type
Question: What are the symptoms of Spinal muscular atrophy Ryukyuan type ?
Answer: What are the signs and symptoms of Spinal muscular atrophy Ryukyuan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy Ryukyuan 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 recessive inheritance - Fasciculations - Infantile onset - Kyphoscoliosis - Pes cavus - Proximal amyotrophy - Spinal muscular atrophy - 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: Cleidorhizomelic syndrome
Question: What are the symptoms of Cleidorhizomelic syndrome ?
Answer: What are the signs and symptoms of Cleidorhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidorhizomelic 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 clavicle 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Single transverse palmar crease 50% Autosomal dominant inheritance - Rhizomelia - Short middle phalanx of the 5th finger - 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: Isolated anterior cervical hypertrichosis
Question: What are the symptoms of Isolated anterior cervical hypertrichosis ?
Answer: What are the signs and symptoms of Isolated anterior cervical hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated anterior cervical hypertrichosis. 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 neck 90% Hypertrichosis 90% Cubitus valgus 7.5% Delayed skeletal maturation 7.5% Hypothyroidism 7.5% Low-set, posteriorly rotated ears 7.5% Short stature 7.5% Anterior cervical hypertrichosis - 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: Pheochromocytoma-islet cell tumor syndrome
Question: What are the symptoms of Pheochromocytoma-islet cell tumor syndrome ?
Answer: What are the signs and symptoms of Pheochromocytoma-islet cell tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma-islet cell tumor 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) Autosomal dominant inheritance - Axillary freckling - Cafe-au-lait spot - Cerebral hemorrhage - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Tachycardia - 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: Heparin-induced thrombocytopenia
Question: What is (are) Heparin-induced thrombocytopenia ?
Answer: Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This condition occurs in up to 5% of those who are exposed to heparin. Characteristic signs of HIT are a drop in platelet count of  greater than 50% and/or the formation of new blood clots during heparin therapy.  The first step of treatment is to discontinue and avoid all heparin products immediately. Often, affected individuals require another medicine to prevent blood clotting (anticoagulants).
Source: GARD
Topic: Fibrodysplasia ossificans progressiva
Question: What is (are) Fibrodysplasia ossificans progressiva ?
Answer: Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). These flareups lasts for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a mutation at the same place in the ACVR1 gene and is inherited in an autosomal dominant manner. This condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have FOP.
Source: GARD
Topic: Fibrodysplasia ossificans progressiva
Question: Is Fibrodysplasia ossificans progressiva inherited ?
Answer: How is fibrodysplasia ossificans progressiva inherited? Fibrodysplasia ossificans progressiva is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In only a small number of cases, an affected person has inherited the mutation from one affected parent.
Source: GARD
Topic: Fibrodysplasia ossificans progressiva
Question: What are the treatments for Fibrodysplasia ossificans progressiva ?
Answer: How might fibrodysplasia ossificans progressiva be treated? There is currently no definitive treatment.  However, a brief course of high-dose corticosteroids, such as Prednisone, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue swelling seen in the early stages of fibrodysplasia ossificans progressiva.  Other medications, such as muscle relaxants, mast cell inhibitors, and aminobisphosphonates, if appropriate, should be closely monitored by a physician.  Surgery to remove heterotopic and extra-skeletal bone is risky and can potentially cause painful new bone growth.
Source: GARD
Topic: Hanhart syndrome
Question: What is (are) Hanhart syndrome ?
Answer: Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.
Source: GARD
Topic: Hanhart syndrome
Question: What are the symptoms of Hanhart syndrome ?
Answer: What are the signs and symptoms of Hanhart syndrome? The signs and symptoms of Hanhart syndrome vary, but may include: Small mouth Short, incompletely developed tongue (hypoglossia) Absent, partially missing, or shortened fingers and/or toes Jaw abnormalities such as micrognathia, retrognathia (receding jaw), or partially missing mandible (lower jaw) High-arched, narrow, or cleft palate Absent or unusually formed arms and/or legs Missing teeth Absence of major salivary glands Some infants with Hanhart syndrome may be born with paralysis of certain areas of the face. If the tongue and/or mouth are affected, this can worsen feeding difficulties that are already present due to the craniofacial abnormalities listed above. The severity of the physical abnormalities associated with Hanhart syndrome varies greatly among affected people, and children with this disorder often have some, but not all, of the symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Hanhart 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) Narrow mouth 90% Upper limb phocomelia 90% Abnormality of the fingernails 50% Brachydactyly syndrome 50% Cleft palate 50% Finger syndactyly 50% Reduced number of teeth 50% Short distal phalanx of finger 50% Split hand 50% Telecanthus 50% Wide nasal bridge 50% Abnormality of the cranial nerves 7.5% Cognitive impairment 7.5% Facial asymmetry 7.5% Gastroschisis 7.5% Neurological speech impairment 7.5% Urogenital fistula 7.5% Abnormality of oral frenula - Adactyly - Aglossia - Autosomal dominant inheritance - Epicanthus - Microglossia - Retrognathia - 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: Hanhart syndrome
Question: What causes Hanhart syndrome ?
Answer: What causes Hanhart syndrome syndrome? The exact underlying cause of Hanhart syndrome is currently unknown. However, researchers suspect that there may be genetic and/or environmental factors that contribute to the development of the condition. To date, no specific disease-causing genes have been identified. Possible environmental factors including: Exposure of the pregnant mother to radiation, teratogenic medications, or hypothermia Trauma or disrupted blood flow to the baby in the womb Chorionic villus sampling procedures (when performed too early in the pregnancy)
Source: GARD
Topic: Hanhart syndrome
Question: How to diagnose Hanhart syndrome ?
Answer: How is Hanhart syndrome diagnosed? A diagnosis of Hanhart syndrome is typically made based on the presence of characteristic signs and symptoms. In some cases, the diagnosis may be suspected before birth if concerning features are seen on ultrasound.
Source: GARD
Topic: Hanhart syndrome
Question: What are the treatments for Hanhart syndrome ?
Answer: How is Hanhart syndrome treated? Because Hanhart syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies because it depends on the signs and symptoms present in each person. For example, limb and/or craniofacial abnormalities may be treated with surgery and/or prostheses. Affected children may also need speech therapy, physical therapy, and/or occupational therapy.
Source: GARD
Topic: Renal dysplasia-limb defects syndrome
Question: What are the symptoms of Renal dysplasia-limb defects syndrome ?
Answer: What are the signs and symptoms of Renal dysplasia-limb defects syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia-limb defects 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) Abnormal form of the vertebral bodies 90% Abnormality of the fibula 90% Abnormality of the palate 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the radius 90% Convex nasal ridge 90% Intrauterine growth retardation 90% Micromelia 90% Multicystic kidney dysplasia 90% Narrow mouth 90% Oligohydramnios 90% Respiratory insufficiency 90% Short stature 90% Talipes 90% Abnormality of the ribs 50% Aplasia/Hypoplasia of the cerebellum 50% Cleft upper lip 50% Humeroradial synostosis 50% Renal hypoplasia/aplasia 50% Short neck 50% Abnormality of the pinna - Absent ulna - Autosomal recessive inheritance - Clitoral hypertrophy - Cryptorchidism - Depressed nasal bridge - Fibular aplasia - High palate - Hypoplasia of the radius - Low-set ears - Maternal diabetes - Neonatal death - Phocomelia - Pneumothorax - Prominent occiput - Pulmonary hypoplasia - Renal dysplasia - Renal hypoplasia - Respiratory distress - Respiratory failure - Short metacarpal - Short ribs - Short sternum - Single umbilical artery - Talipes equinovarus - Thin ribs - Thin vermilion border - 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: Cri du chat syndrome
Question: What is (are) Cri du chat syndrome ?
Answer: Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features. While cri du chat syndrome is a genetic condition, most cases are not inherited.
Source: GARD
Topic: Cri du chat syndrome
Question: What causes Cri du chat syndrome ?
Answer: What causes cri du chat syndrome? Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome.
Source: GARD
Topic: Cri du chat syndrome
Question: Is Cri du chat syndrome inherited ?
Answer: Is cri du chat syndrome inherited? Most cases of cri du chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most affected individuals do not have a history of the disorder in their family.  About 10 percent of people with cri du chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations  usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri du chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5. This results in the intellectual disability and other health problems characteristic of the disorder.
Source: GARD
Topic: Cri du chat syndrome
Question: What are the treatments for Cri du chat syndrome ?
Answer: How might cri du chat syndrome be treated? While there is no specific treatment available for cri du chat syndrome, early intervention is recommended in the areas of physical therapy (achieving physical and motor milestones such as sitting and standing up), communication (speech therapy, sign language instruction), behavioral modification (for hyperactivity, short attention span, aggression), and learning (special education). Because symptoms may vary from individual to individual, we recommend discussing these options with a health care professional to develop a personalized plan for therapy.
Source: GARD