fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Osteogenesis imperfecta type II ?
What are the signs and symptoms of Osteogenesis imperfecta type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type II. 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 pelvic girdle bone morphology - Absent ossification of calvaria - Autosomal dominant inheritance - Beaded ribs - Blue sclerae - Broad long bones - Congestive heart failure - Convex nasal ridge - Crumpled long bones - Disproportionate short-limb short stature - Large fontanelles - Multiple prenatal fractures - Nonimmune hydrops fetalis - Platyspondyly - Premature birth - Pulmonary insufficiency - Recurrent fractures - Respiratory insufficiency - Small for gestational age - Thin skin - Tibial bowing - 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. + GARD + Osteogenesis imperfecta type II
What is (are) McCune Albright syndrome ?
McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction). MAS is caused by a change (mutation) in the GNAS gene that occurs by chance very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of MAS and its features depend on the number and location of cells that have the mutated GNAS gene. Because MAS occurs by chance, it is not inherited or passed down from one generation to the next. + GARD + McCune Albright syndrome
What causes McCune Albright syndrome ?
What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that causes the enzyme adenylate cyclase to be constantly turned on. This, in turn, leads to over-production of several hormones, resulting in the signs and symptoms of MAS. + GARD + McCune Albright syndrome
Is McCune Albright syndrome inherited ?
Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. This mutation is not passed on to any of the affected individual's children. + GARD + McCune Albright syndrome
What are the treatments for McCune Albright syndrome ?
How might McCune Albright syndrome be treated? Although there is no cure for McCune Albright syndrome (MAS), drug treatments may help some of the endocrine symptoms, and surgery can help repair some of the bone problems. Generally, treatment depends on what tissues are affected as well as the severity. Surgery may be needed to manage complications associated with fibrous dysplasia, such as progressive visual disturbance, severe pain, and severe disfigurement. Surgery may also be needed to manage associated endocrine abnormalities and/or cancers. Bisphosphonates are frequently used to treat fibrous dysplasia. Strengthening exercises are recommended to help maintain musculature around the bones and minimize the risk of fracture. Treatment of all endocrine symptoms, whether by hormone inhibitors or surgery, is commonly required. More detailed information about the management of MAS syndrome is available on Medscape Reference's Web site. + GARD + McCune Albright syndrome
What is (are) Glycogen storage disease type 6 ?
Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly.  Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly when an individual does not eat for a long time.  Symptoms improve significantly as individuals with this condition get older.  Glycogen storage disease type 6 is caused by mutations in the PYGL gene and is inherited in an autosomal recessive manner. + GARD + Glycogen storage disease type 6
What are the symptoms of Glycogen storage disease type 6 ?
What are the signs and symptoms of Glycogen storage disease type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 6. 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) Hypoglycemia 90% Short stature 90% Autosomal recessive inheritance - Hepatomegaly - Increased hepatic glycogen content - Postnatal growth retardation - 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 + Glycogen storage disease type 6
What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 4 ?
What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Muscular hypotonia 5% Seizures 5% Anemia 7/7 Hepatomegaly 7/7 Hypertriglyceridemia 5/5 Splenomegaly 7/7 Hemophagocytosis 6/7 Thrombocytopenia 6/7 Increased serum ferritin 3/4 Neutropenia 5/7 Hypofibrinogenemia 3/5 Autosomal recessive inheritance - Fever - 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 + Hemophagocytic lymphohistiocytosis, familial, 4
What is (are) Chiari malformation type 2 ?
Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry. Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life. The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine. The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations. + GARD + Chiari malformation type 2
What are the symptoms of Chiari malformation type 2 ?
What are the signs and symptoms of Chiari malformation type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum 33% Arnold-Chiari malformation - Ataxia - Bulbar signs - Cervical myelopathy - Cyanosis - Dysphagia - Feeding difficulties - Heterotopia - Hydrocephalus - Inspiratory stridor - Limb muscle weakness - Multifactorial inheritance - Muscular hypotonia - Nystagmus - Occipital neuralgia - Opisthotonus - Spina bifida - 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 + Chiari malformation type 2
Is Chiari malformation type 2 inherited ?
Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental factors (such as lack of proper vitamins or nutrients in the maternal diet during pregnancy) may also contribute to the condition. Because the cause is unclear, it is not currently possible to estimate what the recurrence risk for family members may be. There have been reports in the medical literature of families in which more than one family member was affected with a Chiari malformation. However, a search of the available medical literature yields limited information specific to familial cases of Chiari malformation type 2. One article written by Lindenberg and Walker in 1971 describes the Arnold-Chiari malformation in 2 sisters; both also had hydrocephalus and meningomyelocele. + GARD + Chiari malformation type 2
What are the symptoms of Nasodigitoacoustic syndrome ?
What are the signs and symptoms of Nasodigitoacoustic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasodigitoacoustic 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 thumb phalanx 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Broad forehead 90% Hypertelorism 90% Preaxial foot polydactyly 90% Prominent nasal bridge 90% Sensorineural hearing impairment 90% Short distal phalanx of finger 90% Short hallux 90% Abnormality of the voice 50% Aplastic/hypoplastic toenail 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Exaggerated cupid's bow 50% Macrocephaly 50% Ptosis 50% Tented upper lip vermilion 50% Behavioral abnormality 7.5% Cognitive impairment 7.5% Short stature 7.5% Abnormality of the nail - Autosomal dominant inheritance - Broad distal phalanx of finger - Broad hallux - Broad thumb - Depressed nasal bridge - Enlarged epiphyses - Frontal bossing - High palate - Hoarse voice - Narrow palate - Prominent forehead - Pulmonic stenosis - Rounded epiphyses - Short 3rd metacarpal - Short phalanx of finger - Short toe - Thick upper lip vermilion - 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 + Nasodigitoacoustic syndrome
What are the symptoms of Hair defect with photosensitivity and mental retardation ?
What are the signs and symptoms of Hair defect with photosensitivity and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Hair defect with photosensitivity and mental retardation. 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 hair quantity 90% Coarse hair 90% Cognitive impairment 90% Cutaneous photosensitivity 90% Fine hair 90% Pili torti 90% Abnormality of immune system physiology 50% Autosomal recessive inheritance - Brittle hair - Intellectual disability - Sparse eyebrow - Sparse eyelashes - 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 + Hair defect with photosensitivity and mental retardation
What is (are) Adenoid cystic carcinoma ?
Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It can also occur in the breast, uterus, or other locations in the body. Early symptoms depend on the tumor's location and may include lumps under the lining of the mouth or facial skin; numbness in the mouth or face; difficulty swallowing; hoarseness; pain; or paralysis of a facial nerve. ACC often has long periods with no growth followed by growth spurts; however, it can be aggressive in some people. ACC spreads along nerves or through the bloodstream, and only spreads to the lymph nodes in about 5-10% of cases. The cause of ACC is currently unknown. Treatment depends on many factors and may include surgery, radiation, and/or chemotherapy. + GARD + Adenoid cystic carcinoma
What causes Adenoid cystic carcinoma ?
What causes adenoid cystic carcinoma? The underlying cause of adenoid cystic carcinoma (ACC) is not yet known, and no strong genetic or environmental risk factors specific to ACC have been identified. Researchers believe that a combination of various genetic and environmental factors probably interact to ultimately cause a person to develop specific types of cancers. There is ongoing research to learn more about the many factors that contribute to the development of cancer. Cancer is at least partly due to acquired (not inherited) damage or changes to the DNA in certain cells. For example, various studies have shown that chromosomal abnormalities and genetic deletions are present in samples of ACC. However, these genetic abnormalities are present only in the cancer cells, not in the cells with the genetic material that is passed on to offspring (the egg and sperm cells). + GARD + Adenoid cystic carcinoma
Is Adenoid cystic carcinoma inherited ?
Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland. While ACC appears to generally be sporadic (occurring in people with no family history of ACC), there has been speculation about a possible linkage between salivary gland cancers in general and inherited BRCA gene mutations. However, this potential link needs further investigation. There has also been one report of a case of ACC of the salivary gland occurring in a person with basal cell nevus syndrome, a hereditary syndrome known to predispose affected people to a very wide range of tumors. + GARD + Adenoid cystic carcinoma
What are the symptoms of Hyperglycerolemia ?
What are the signs and symptoms of Hyperglycerolemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperglycerolemia. 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 90% Cognitive impairment 90% EMG abnormality 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Primary adrenal insufficiency 90% Short stature 90% Cryptorchidism 50% EEG abnormality 50% Hyperlordosis 50% Reduced bone mineral density 50% Scoliosis 50% Seizures 50% Abnormal facial shape 7.5% Adrenal insufficiency - Adrenocortical hypoplasia - Coma - Downturned corners of mouth - Episodic vomiting - Frontal bossing - Hypertelorism - Hypertriglyceridemia - Hypoglycemia - Intellectual disability - Ketoacidosis - Lethargy - Low-set ears - Metabolic acidosis - Muscular dystrophy - Osteoporosis - Pathologic fracture - Small for gestational age - Strabismus - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Hyperglycerolemia
What are the symptoms of Leiomyoma of vulva and esophagus ?
What are the signs and symptoms of Leiomyoma of vulva and esophagus? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiomyoma of vulva and esophagus. 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 - Clitoromegaly - Esophageal 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 + Leiomyoma of vulva and esophagus