fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Biotinidase deficiency ?
What are the signs and symptoms of Biotinidase deficiency? The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Children with profound biotinidase deficiency, the more severe form of the condition, may have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications. Partial biotinidase deficiency is a milder form of this condition. Affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress on the body. The Human Phenotype Ontology provides the following list of signs and symptoms for Biotinidase 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) Muscular hypotonia 90% Seizures 90% Alopecia 50% Dry skin 50% Hearing impairment 50% Incoordination 50% Inflammatory abnormality of the eye 50% Optic atrophy 50% Skin rash 50% Abnormality of retinal pigmentation 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Hypertonia 7.5% Muscle weakness 7.5% Myopia 7.5% Reduced consciousness/confusion 7.5% Respiratory insufficiency 7.5% Skin ulcer 7.5% Visual field defect 7.5% Apnea - Ataxia - Autosomal recessive inheritance - Conjunctivitis - Diarrhea - Diffuse cerebellar atrophy - Diffuse cerebral atrophy - Feeding difficulties in infancy - Hepatomegaly - Hyperammonemia - Lethargy - Metabolic ketoacidosis - Organic aciduria - Recurrent skin infections - Seborrheic dermatitis - Sensorineural hearing impairment - Splenomegaly - Tachypnea - Visual loss - Vomiting - 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. + GARD + Biotinidase deficiency
What is (are) Plasma cell leukemia ?
Plasma cell leukemia (PCL) is a rare and aggressive form of multiple myeloma that involves high levels of plasma cells circulating in the peripheral blood. The signs and symptoms of PCL include aggressive clinical features, such as extramedullary disease, bone marrow failure, advanced stage disease and expression of distinct immunophenotypic markers. Different types of treatments are available for patients with PCL. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. For detailed information on the available treatment options, please visit the following link. http://www.cancer.gov/cancertopics/pdq/treatment/myeloma/Patient/page4 + GARD + Plasma cell leukemia
What is (are) Autoimmune polyglandular syndrome type 1 ?
Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. This syndrome can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in an autosomal recessive fashion. + GARD + Autoimmune polyglandular syndrome type 1
What are the symptoms of Autoimmune polyglandular syndrome type 1 ?
What are the signs and symptoms of Autoimmune polyglandular syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune polyglandular syndrome type 1. 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 calcium-phosphate metabolism 90% Abnormality of the cerebral vasculature 90% Abnormality of the fingernails 90% Autoimmunity 90% Hypercortisolism 90% Hypoparathyroidism 90% Opacification of the corneal stroma 90% Photophobia 90% Primary adrenal insufficiency 90% Visual impairment 90% Cataract 50% Abnormal hair quantity 7.5% Cerebral calcification 7.5% Hypopigmented skin patches 7.5% Alopecia - Anemia - Asplenia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cholelithiasis - Chronic active hepatitis - Chronic atrophic gastritis - Chronic mucocutaneous candidiasis - Diarrhea - Female hypogonadism - Hypoplasia of dental enamel - Juvenile onset - Keratoconjunctivitis - Malabsorption - Type I diabetes mellitus - Vitiligo - 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. + GARD + Autoimmune polyglandular syndrome type 1
What are the symptoms of Annular pancreas ?
What are the signs and symptoms of Annular pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Annular pancreas. 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 pancreas 90% Duodenal stenosis 90% Abnormality of the gastric mucosa 50% Annular pancreas - Autosomal dominant inheritance - High intestinal obstruction - 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. + GARD + Annular pancreas
What are the symptoms of Spinocerebellar ataxia autosomal recessive 5 ?
What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 5. 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 skin - Ankle clonus - Autosomal recessive inheritance - Babinski sign - Bowel incontinence - Cerebellar atrophy - Clonus - Congenital onset - Decreased body weight - Dilated fourth ventricle - Dystonia - Esotropia - Flexion contracture - Intellectual disability, progressive - Intellectual disability, severe - Microcephaly - Neurological speech impairment - Nonprogressive - Oculomotor apraxia - Optic atrophy - Short stature - Spasticity - 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. + GARD + Spinocerebellar ataxia autosomal recessive 5
What are the symptoms of Familial hypocalciuric hypercalcemia type 3 ?
What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 3. 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) Nephrolithiasis 5% Peptic ulcer 5% Chondrocalcinosis - Hypercalcemia - Hypermagnesemia - Hypocalciuria - Multiple lipomas - Pancreatitis - Parathormone-independent increased renal tubular calcium reabsorption - Primary hyperparathyroidism - 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. + GARD + Familial hypocalciuric hypercalcemia type 3
What is (are) Trisomy 2 mosaicism ?
Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a persons cells. Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. In live born infants, signs and symptoms vary widely but generally include poor growth of the baby while in the womb and multiple birth defects.  Trisomy 2 mosaicism may be encountered during pregnancy as a finding following chorionic villus sampling. In these situations the trisomic cells are most often confined to the placenta and the pregnancy results in a healthy infant. Further investigation is warranted however, because in a small percentage of cases this finding is associated with an increased risk for intrauterine growth restriction  and oligohydramnios. Questions regarding trisomy 2 mosaicism should be discussed with a genetic professional. Click here to visit GeneTests to search for a genetics professional near you. + GARD + Trisomy 2 mosaicism
What is (are) C1q nephropathy ?
C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy, however, this protein can also be found deposited throughout the kidneys. It has been thought to be a subgroup of primary focal segmental glomerulosclerosis or to be a combination of several disease groups rather than a single disease. As a disease, it is very similar to minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS). Criteria diagnosis includes C1q deposits on the kidney and no evidence of systemic lupus erythematosus. Both children and adult patients may have no symptoms, except for the presence of blood or protein in the urine, or  present with swelling of the feet and legs, high blood pressure and kidney insufficiency. The treatment of C1q nephropathy is the same as for MCD or FSGS and includes corticosteroids and other immunosuppressive agents. Further research is needed to establish C1q nephropathy as a recognized distinct clinical entity. + GARD + C1q nephropathy
What are the symptoms of Seminoma ?
What are the signs and symptoms of Seminoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Seminoma. 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 metabolism/homeostasis - Cryptorchidism - Gonadal dysgenesis - Sporadic - Teratoma - 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. + GARD + Seminoma
What is (are) Epithelioid sarcoma ?
Epithelioid sarcoma is a rare cancer that most often occurs in the soft tissue of the fingers, hands and forearms of young adults.  It may also be found in the legs, trunk, head or neck regions.  It is rare in young children and adults, and it occurs more frequently in men.  Epithelioid sarcoma begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the growth.  It is considered an aggressive cancer because it has a high chance of regrowing after treatment (a recurrence), or spreading to surrounding tissues or more distant parts of the body (a metastasis).  Epithelioid sarcoma is first treated with surgery to remove all the cancer cells (wide local excision).  Amputation of part of the affected limb may be needed in severe cases.  Radiation therapy or chemotherapy may also be used to destroy any cancer cells not removed during surgery. + GARD + Epithelioid sarcoma
What are the symptoms of Dens in dente and palatal invaginations ?
What are the signs and symptoms of Dens in dente and palatal invaginations? The Human Phenotype Ontology provides the following list of signs and symptoms for Dens in dente and palatal invaginations. 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 - Dens in dente - 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. + GARD + Dens in dente and palatal invaginations
What are the symptoms of Quebec platelet disorder ?
What are the signs and symptoms of Quebec platelet disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Quebec platelet disorder. 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 - Bruising susceptibility - Epistaxis - Impaired epinephrine-induced platelet aggregation - Joint hemorrhage - Menorrhagia - Thrombocytopenia - 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. + GARD + Quebec platelet disorder
What is (are) Stargardt disease ?
Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. There is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence. + GARD + Stargardt disease
What are the symptoms of Stargardt disease ?
What are the signs and symptoms of Stargardt disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt 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) Bull's eye maculopathy 15/15 Autosomal recessive inheritance - Macular degeneration - Retinitis pigmentosa inversa - 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. + GARD + Stargardt disease
Is Stargardt disease inherited ?
How is Stargardt disease inherited? Stargardt disease is most commonly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier A person with autosomal recessive Stargardt disease will always pass one mutated copy of the gene to each of his/her children. In other words, each of his/her children will at least be a carrier.  A child of an affected person can be affected if the other parent is also affected or is a carrier. In rare cases, Stargardt disease may be inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition. An affected person typically inherits the mutated gene from an affected parent. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. + GARD + Stargardt disease