umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Thyrotropin deficiency, isolated ?

Answer: What are the signs and symptoms of Thyrotropin deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotropin deficiency, isolated. 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 fontanelles or cranial sutures 90% Abnormality of the liver 90% Abnormality of the tongue 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Coarse facial features 90% Constipation 90% Muscular hypotonia 90% Sleep disturbance 90% Umbilical hernia 90% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Congenital hypothyroidism - Depressed nasal bridge - Hoarse cry - Intellectual disability, progressive - Intellectual disability, severe - Macroglossia - Omphalocele - Severe postnatal growth retardation - Wide anterior fontanel - 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.
Question: What is (are) hyperphosphatemic familial tumoral calcinosis ?

Answer: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Calcinosis usually occurs in and just under skin tissue around the joints, most often the hips, shoulders, and elbows. Calcinosis may also develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis occurs in blood vessels or in the brain and can cause serious health problems. The deposits develop over time and vary in size. Larger deposits form masses that are noticeable under the skin and can interfere with the function of joints and impair movement. These large deposits may appear tumor-like (tumoral), but they are not tumors or cancerous. The number and frequency of deposits varies among affected individuals; some develop few deposits during their lifetime, while others may develop many in a short period of time.  Other features of HFTC include eye abnormalities such as calcium buildup in the clear front covering of the eye (corneal calcification) or angioid streaks that occur when tiny breaks form in the layer of tissue at the back of the eye called Bruch's membrane. Inflammation of the long bones (diaphysis) or excessive bone growth (hyperostosis) may occur. Some affected individuals have dental abnormalities. In males, small crystals of cholesterol can accumulate (microlithiasis) in the testicles, which usually causes no health problems.  A similar condition called hyperphosphatemia-hyperostosis syndrome (HHS) results in increased levels of phosphate in the blood, excessive bone growth, and bone lesions. This condition used to be considered a separate disorder, but it is now thought to be a mild variant of HFTC.
Question: What is (are) keratoderma with woolly hair ?

Answer: Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.  Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.  Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.
Question: What is (are) generalized arterial calcification of infancy ?

Answer: Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the heart to the rest of the body (the arteries). This calcification often occurs along with thickening of the lining of the arterial walls (the intima). These changes lead to narrowing (stenosis) and stiffness of the arteries, which forces the heart to work harder to pump blood. As a result, heart failure may develop in affected individuals, with signs and symptoms including difficulty breathing, accumulation of fluid (edema) in the extremities, a bluish appearance of the skin or lips (cyanosis), severe high blood pressure (hypertension), and an enlarged heart (cardiomegaly).  People with GACI may also have calcification in other organs and tissues, particularly around the joints. In addition, they may have hearing loss or softening and weakening of the bones (rickets).  Some individuals with GACI also develop features similar to those of another disorder called pseudoxanthoma elasticum (PXE). PXE is characterized by the accumulation of calcium and other minerals (mineralization) in elastic fibers, which are a component of connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Features characteristic of PXE that also occur in GACI include yellowish bumps called papules on the underarms and other areas of skin that touch when a joint bends (flexor areas); and abnormalities called angioid streaks affecting tissue at the back of the eye, which can be detected during an eye examination.  As a result of the cardiovascular problems associated with GACI, individuals with this condition often do not survive past infancy, with death typically caused by a heart attack or stroke. However, affected individuals who survive their first six months, known as the critical period, can live into adolescence or early adulthood.
Question: What causes Inguinal Hernia ?

Answer: The cause of inguinal hernias depends on the type of inguinal hernia.
                
Indirect inguinal hernias. A defect in the abdominal wall that is present at birth causes an indirect inguinal hernia.
                
During the development of the fetus in the womb, the lining of the abdominal cavity forms and extends into the inguinal canal. In males, the spermatic cord and testicles descend out from inside the abdomen and through the abdominal lining to the scrotum through the inguinal canal. Next, the abdominal lining usually closes off the entrance to the inguinal canal a few weeks before or after birth. In females, the ovaries do not descend out from inside the abdomen, and the abdominal lining usually closes a couple of months before birth.1
                
Sometimes the lining of the abdomen does not close as it should, leaving an opening in the abdominal wall at the upper part of the inguinal canal. Fat or part of the small intestine may slide into the inguinal canal through this opening, causing a hernia. In females, the ovaries may also slide into the inguinal canal and cause a hernia.
                
Indirect hernias are the most common type of inguinal hernia.2 Indirect inguinal hernias may appear in 2 to 3 percent of male children; however, they are much less common in female children, occurring in less than 1 percent.3
                
Direct inguinal hernias. Direct inguinal hernias usually occur only in male adults as aging and stress or strain weaken the abdominal muscles around the inguinal canal. Previous surgery in the lower abdomen can also weaken the abdominal muscles.
                
Females rarely form this type of inguinal hernia. In females, the broad ligament of the uterus acts as an additional barrier behind the muscle layer of the lower abdominal wall. The broad ligament of the uterus is a sheet of tissue that supports the uterus and other reproductive organs.
Question: What is (are) Retinoblastoma ?

Answer: Key Points
                    - Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina.    - Retinoblastoma occurs in heritable and nonheritable forms.     -  Treatment for both forms of retinoblastoma should include genetic counseling.    - Children with a family history of retinoblastoma should have eye exams to check for retinoblastoma.     - A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers.    - Signs and symptoms of retinoblastoma include "white pupil" and eye pain or redness.     - Tests that examine the retina are used to detect (find) and diagnose retinoblastoma.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina.
                    The retina is the nerve tissue that lines the inside of the back of the eye. The retina senses light and sends images to the brain by way of the optic nerve.      Although retinoblastoma may occur at any age, it occurs most often in children younger than 2 years. The cancer may be in one eye (unilateral) or in both eyes (bilateral). Retinoblastoma rarely spreads from the eye to nearby tissue or other parts of the body.    Cavitary retinoblastoma is a rare type of retinoblastoma in which cavities (hollow spaces) form within the tumor.
                
                
                    Treatment for both forms of retinoblastoma should include genetic counseling.
                    Parents should receive genetic counseling (a discussion with a trained professional about the risk of genetic diseases) to discuss genetic testing to check for a mutation (change) in the RB1 gene. Genetic counseling also includes a discussion of the risk of retinoblastoma for the child and the child's brothers or sisters.
Question: What are the symptoms of Caudal appendage deafness ?

Answer: What are the signs and symptoms of Caudal appendage deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal appendage deafness. 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 pinna 90% Conductive hearing impairment 90% Epicanthus 90% Hydrocephalus 90% Hypoplasia of penis 90% Long palpebral fissure 90% Microcephaly 90% Short stature 90% Triangular face 90% Abnormality of the ribs 50% Abnormality of the testis 50% Astigmatism 50% Delayed skeletal maturation 50% Deviation of finger 50% Hypermetropia 50% Nystagmus 50% Premature birth 50% Respiratory insufficiency 50% Symphalangism affecting the phalanges of the hand 50% Wide mouth 50% 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.
Question: What are the symptoms of Congenital myasthenic syndrome with episodic apnea ?

Answer: 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.
Question: What are the symptoms of Renal tubular dysgenesis ?

Answer: What are the signs and symptoms of Renal tubular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular dysgenesis. 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 renal tubule 90% Aplasia/Hypoplasia of the lungs 90% Hypertelorism 90% Joint hypermobility 90% Polycystic kidney dysplasia 90% Polyhydramnios 90% Premature birth 90% Microcephaly 7.5% Nephropathy 7.5% Oligohydramnios 7.5% Single transverse palmar crease 7.5% Tetralogy of Fallot 7.5% Anuria - Autosomal recessive inheritance - Hypotension - Potter facies - Pulmonary hypoplasia - Renotubular dysgenesis - Respiratory insufficiency - Widely patent fontanelles and sutures - 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.
Question: What is (are) persistent Mllerian duct syndrome ?

Answer: Persistent Mllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Mllerian duct during development of the fetus. The Mllerian duct usually breaks down during early development in males, but it is retained in those with persistent Mllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.  The first noted signs and symptoms in males with persistent Mllerian duct syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are typically discovered when surgery is performed to treat these conditions.  The testes and female reproductive organs can be located in unusual positions in persistent Mllerian duct syndrome. Occasionally, both testes are undescended (bilateral cryptorchidism) and the uterus is in the pelvis. More often, one testis has descended into the scrotum normally, and one has not. Sometimes, the descended testis pulls the fallopian tube and uterus into the track through which it has descended. This creates a condition called hernia uteri inguinalis, a form of inguinal hernia. In other cases, the undescended testis from the other side of the body is also pulled into the same track, forming an inguinal hernia. This condition, called transverse testicular ectopia, is common in people with persistent Mllerian duct syndrome.  Other effects of persistent Mllerian duct syndrome may include the inability to father children (infertility) or blood in the semen (hematospermia). Also, the undescended testes may break down (degenerate) or develop cancer if left untreated.
Question: What are the genetic changes related to prolidase deficiency ?

Answer: Prolidase deficiency is caused by mutations in the PEPD gene. This gene provides instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are molecules composed of two protein building blocks (amino acids). Specifically, prolidase divides dipeptides containing the amino acids proline or hydroxyproline. By freeing these amino acids, prolidase helps make them available for use in producing proteins that the body needs.  Prolidase is also involved in the final step of the breakdown of some proteins obtained through the diet and proteins that are no longer needed in the body. Prolidase is particularly important in the breakdown of collagens, a family of proteins that are rich in proline and hydroxyproline. Collagens are an important part of the extracellular matrix, which is the lattice of proteins and other molecules outside the cell. The extracellular matrix strengthens and supports connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Collagen breakdown occurs during the maintenance (remodeling) of the extracellular matrix.  PEPD gene mutations that cause prolidase deficiency result in the loss of prolidase enzyme activity. It is not well understood how the absence of prolidase activity causes the various signs and symptoms of prolidase deficiency. Researchers have suggested that accumulation of dipeptides that have not been broken down may lead to cell death. When cells die, their contents are released into the surrounding tissue, which could cause inflammation and lead to the skin problems seen in prolidase deficiency. Impaired collagen breakdown during remodeling of the extracellular matrix may also contribute to the skin problems. The intellectual disability that occurs in prolidase deficiency might result from problems in processing neuropeptides, which are brain signaling proteins that are rich in proline. It is unclear how absence of prolidase activity results in the other features of prolidase deficiency.
Question: What are the symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch ?

Answer: What are the signs and symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch. 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) Absent scaphoid - Absent trapezium - Absent trapezoid bone - Anonychia - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Cone-shaped epiphyses of the middle phalanges of the hand - Distal symphalangism (feet) - Distal symphalangism (hands) - Microdontia - Pulp stones - Short distal phalanx of finger - Short middle phalanx of finger - Short phalanx of finger - Small nail - 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.