Druvith/transformed_medDataset huggingface dataset:
What is (are) Familial avascular necrosis of the femoral head ? 
 Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to an inadequate blood supply and deficient bone repair. It can lead to pain and limping and cause the legs to be of unequal length. The prevalence of ANFH is unknown but around 15,000 cases are reported each year in the United States, with most cases being associated with mechanical disruption (hip trauma or surgery), hypofibrinolysis (a reduced ability to dissolve clots), steroid use, smoking, alcohol intake, hemoglobinopathies and hyperlipidemia (an increase in the amount of fat - such as cholesterol and triglycerides - in the blood). Familial forms of ANFH appear to be very rare, with only a few families reported in the medical literature. Age of onset in these familial cases ranges from 15-48 years (as opposed to between 3rd to 5th decade of life for other forms of ANFH). Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members.
What are the symptoms of Familial avascular necrosis of the femoral head ? 
 What are the signs and symptoms of Familial avascular necrosis of the femoral head? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial avascular necrosis of the femoral head. 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 - Avascular necrosis of the capital femoral epiphysis - 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) C1q deficiency ? 
 C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a  procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.
What are the symptoms of C1q deficiency ? 
 What are the signs and symptoms of C1q deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for C1q deficiency. 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) Membranoproliferative glomerulonephritis 7.5% Systemic lupus erythematosus 7.5% Autosomal recessive inheritance - Decreased serum complement factor I - Recurrent infections - 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) Aromatic L-amino acid decarboxylase deficiency ? 
 Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system. Individuals affected by this condition often have severe movement disorders, abnormal eye movements, autonomic symptoms, and neurological impairment. The condition is caused by mutations in the DDC gene. It is inherited in an autosomal recessive pattern. Treatment includes a variety of medications which may result in varying levels of success in individual patients. Physical, occupational, and speech therapy may also be of benefit.
What is (are) Hepatic lipase deficiency ? 
 Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase deficiency may be associated with an increased risk of developing atherosclerosis and/or heart disease; however, additional research is needed on the long-term outlook of people with this condition. Hepatic lipase deficiency is caused by changes (mutations) in the LIPC gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Hepatic lipase deficiency ? 
 What are the signs and symptoms of Hepatic lipase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic lipase deficiency. 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) Angina pectoris - Autosomal recessive inheritance - Eruptive xanthomas - 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) Primary gastrointestinal melanoma ? 
 Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color. While it is not uncommon for melanomas to start in the skin and later spread to other parts of the body, melanomas originating in the gastrointestinal tract are rare. The most frequently reported site is in the esophagus and anorectum.
What are the symptoms of Primary gastrointestinal melanoma ? 
 What are the symptoms of primary melanoma of the small intestine? Symptoms of primary melanoma of the small intestine can vary from person to person. Symptoms tend to be non-specific including nausea, vomiting, stomachache, fatigue, hemorrhage (broken blood vessels), and anemia (low red blood cell count).
What causes Primary gastrointestinal melanoma ? 
 What causes primary melanoma of the small intestine? The cause of primary melanoma of the small intestine is currently unknown. Theories include that the cancer originated from a undetectable primary tumor that spontaneously (naturally) regressed on its own; that the cancer originated from a primary tumor that is so small it can not be detected using standard clinical and laboratory investigations; lastly, because melanocytes are not normally found in the stomach, a final theory is that the melanocytes are in the stomach because early melanocyte cells lost their way during the development of the baby in the womb, and that these misplaced cells later became cancerous.
How to diagnose Primary gastrointestinal melanoma ? 
 How might primary melanoma of the small intestine be diagnosed? A variety of tests may be involved in the initial diagnosis of the tumor, including contrast radiography, endoscopy, and CT scan. The tumor is confirmed by surgical resection. Careful study of tissue samples from the tumor under a microscope will show the same immunohistochemical characteristics of skin melanomas. Once this has been established, the following are proposed diagnostic criteria for primary melanoma of the small intestine: 1. The absence of a previous or synchronously resected melanoma or atypical melanocytic lesion of the skin. 2. The absence of metastatic spread to other organs. 3. The presence of intramucosal lesions of the overlying or adjacent intestinal mucosa.
What are the treatments for Primary gastrointestinal melanoma ? 
 How might primary melanoma of the small intestine be treated? Treatment of primary melanoma of the small intestine often involves the surgical resection of the tumor. We encourage you to speak with your healthcare provider to learn more about your surgical and other treatment options.
What are the symptoms of Limb-girdle muscular dystrophy type 1A ? 
 What are the signs and symptoms of Limb-girdle muscular dystrophy type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 1A. 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 Achilles reflex - Achilles tendon contracture - Adult onset - Autosomal dominant inheritance - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Heterogeneous - Hyporeflexia - Late-onset distal muscle weakness - Muscle fiber splitting - Muscular dystrophy - Nasal, dysarthic speech - Pelvic girdle muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - Slow progression - 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) Anophthalmia plus syndrome ? 
 Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. Other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect, midline abdominal wall defects, clinodactyly, eye colobomas and congenital glaucoma. It has been suggested that APS is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified.
What are the symptoms of Anophthalmia plus syndrome ? 
 What are the signs and symptoms of Anophthalmia plus syndrome? Anophthalmia plus syndrome (APS) may involve malformations in multiple organs of the body including the eyes, ears, nose, face, mouth, brain, sacral vertebrae, meninges (tissue that lines the outer part of the brain and spinal cord), abdominal wall, heart, digits (fingers and toes), and endocrine system. Based on the few cases reported in the literature, it appears that all affected individuals have had anophthalmia (absence of one or both eyes) and/or microphthalmia (abnormally small eyes). It has also been estimated that approximately 89% of affected individuals have had an oral-facial cleft (such as cleft lip and/or cleft palate). Other specific findings that have been reported in more than one affected individual include wide-set eyes (hypertelorism), low-set ears, choanal stenosis or atresia (narrowing or blockage of the nasal passages), sacral neural tube defect, midline abdominal wall defects, clinodactyly (abnormally bent or curved finger), eye colobomas, and congenital glaucoma. There have been other, additional abnormalities that have only been reported in single individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmia plus 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) Aplasia/Hypoplasia affecting the eye 90% Choanal atresia 50% Cleft palate 50% Facial cleft 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Non-midline cleft lip 50% Aplasia/Hypoplasia of the earlobes 7.5% Aplasia/Hypoplasia of the sacrum 7.5% Blepharophimosis 7.5% Cleft eyelid 7.5% Deviation of finger 7.5% Iris coloboma 7.5% Spina bifida 7.5% Vertebral segmentation defect 7.5% Abnormality of the genitourinary system - Abnormality of the vertebral column - Anophthalmia - Autosomal recessive inheritance - Bilateral cleft lip and palate - Macrotia - Microphthalmia - 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.
How to diagnose Anophthalmia plus syndrome ? 
 How is anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies). A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out.
What is (are) Chester porphyria ? 
 Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP).  Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.
What is (are) Trisomy 17 mosaicism ? 
 Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. Few cases of trisomy 17 mosaicism have been described, most having been detected during pregnancy through a test called amniocentesis. Only a few individuals have had a confirmed diagnosis of trisomy 17 mosaicism after birth. Because the proportion and location of cells with trisomy 17 differs from case to case, the presence and severity of signs and symptoms may vary significantly from person to person.
What causes Trisomy 17 mosaicism ? 
 What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism?  How does trisomy mosaicism occur?
What is (are) Immunotactoid glomerulopathy ? 
 Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID),  is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposits derived from immunoglobulins, but in most cases the cause is idiopathic (unknown). On electron microscopy, immunotactoid glomerulopathy is characterized by the formation of microtubules which are much larger than the fibrils observed in fibrillary glomerulonephritis (30 to 50 versus 16 to 24 nm in diameter). The signs and symptoms include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease. Also, patients with immunotactoid glomerulopathy have a greater risk to have chronic lymphocytic leukemia and B cell lymphomas and should be screened for all of these conditions. Treatment is generally determined by the severity of the kidney problems.
What are the symptoms of Lethal short limb skeletal dysplasia Al Gazali type ? 
 What are the signs and symptoms of Lethal short limb skeletal dysplasia Al Gazali type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal short limb skeletal dysplasia Al Gazali 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) Atresia of the external auditory canal - Autosomal recessive inheritance - Bilateral talipes equinovarus - Lethal skeletal dysplasia - Limb undergrowth - Macrocephaly - Mesomelia - Opacification of the corneal stroma - Platyspondyly - Shortening of all metacarpals - Shortening of all phalanges of fingers - Wide anterior fontanel - 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.
What is (are) Chromosome 9 inversion ? 
 Chromosomes are the structures found in every cell of the body that contain our DNA, the instructions that tell our body what to do. Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q arm; p is the short arm and q is the long arm. The p arm is always on the top and the q arm is on the bottom. Chromosome 9 inversion is when there are two breaks on chromosome 9. The segment between the breakpoints flips around and reinserts back into the same place on chromosome 9. If both breaks occur in the same arm of the chromosome, this is called a paracentric inversion. If one break occurs in the short arm and the other in the long arm of the chromosome, then this is called a pericentric inversion. Chromosome 9 inversions commonly occur as a pericentric inversion.