fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Donnai-Barrow syndrome ?
What are the signs and symptoms of Donnai-Barrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Donnai-Barrow 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) Low-molecular-weight proteinuria 100% Non-acidotic proximal tubulopathy 100% Abnormality of the fontanelles or cranial sutures 90% Aplasia/Hypoplasia of the corpus callosum 90% Broad nasal tip 90% Cognitive impairment 90% Depressed nasal bridge 90% High anterior hairline 90% Hypertelorism 90% Infra-orbital crease 90% Low-set, posteriorly rotated ears 90% Myopia 90% Proptosis 90% Proteinuria 90% Sensorineural hearing impairment 90% Short nose 90% Low-set ears 75% Broad forehead 50% Congenital diaphragmatic hernia 50% Diaphragmatic eventration 50% Macrocephaly 50% Omphalocele 50% Retinal detachment 50% Umbilical hernia 50% Visual impairment 50% Progressive visual loss 33% Retinal dystrophy 33% Abnormality of female internal genitalia 7.5% Chorioretinal coloboma 7.5% Hypoplasia of the iris 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Seizures 7.5% Ventricular septal defect 7.5% Bicornuate uterus 5% Cataract 1% Aplasia/Hypoplasia of the corpus callosum 11/11 Hypertelorism 12/12 Sensorineural hearing impairment 5/5 Severe Myopia 5/5 Short nose 9/11 Wide anterior fontanel 9/12 Congenital diaphragmatic hernia 9/13 Posteriorly rotated ears 7/11 Iris coloboma 3/6 Omphalocele 6/12 Intestinal malrotation 3/13 Autosomal recessive inheritance - Hypoplasia of midface - Malar flattening - Partial agenesis of the corpus callosum - 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 + Donnai-Barrow syndrome
What is (are) Mantle cell lymphoma ?
Mantle cell lymphoma (MCL) belongs to a group of diseases known as  non-Hodgkins lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s. Lymphocytes, which are white blood cells that make up the lymphatic system. There are two main types: B-lymphocytes (B-cells) and T-lymphocytes (T-cells). Mantel cell lymphoma is a B-cell lymphoma that develops from cancerous B-cells within a region of the lymph node known as the mantle zone. Although mantle cell lymphomas are slow-growing cancers, at the time of diagnosis, they are usually widespread in the lymph nodes and require intensive treatment because they can become lethal within a short period of time. + GARD + Mantle cell lymphoma
What are the symptoms of Mantle cell lymphoma ?
What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Mantle cell lymphoma. 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) Hematological neoplasm 90% Lymphadenopathy 90% Anorexia 50% Splenomegaly 50% Weight loss 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. + GARD + Mantle cell lymphoma
What causes Mantle cell lymphoma ?
What causes Mantle cell lymphoma? Most lymphomas are not inherited, but rather an acquired disease in which the DNAwithin the cells has been damaged. Damage to the DNA occurs by a combination of different factors. Many mantle cell lymphomas are found to be associated with a chromsosome translocation. Some causes of non-Hodgkin lymphomas (NHL) have been linked to viral infections including Ebstein-Barr virus, HIV, and human herpesvirus 6. It has also been found that immunodeficiencies and environmental factors like hair dyes and pesticides may lead to NHLs. + GARD + Mantle cell lymphoma
How to diagnose Mantle cell lymphoma ?
How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite. Chromosome translocations in Mantle cell lymphoma can be found by genetic molecular testing methods such as PCR and FISH. + GARD + Mantle cell lymphoma
What are the treatments for Mantle cell lymphoma ?
How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication. + GARD + Mantle cell lymphoma
What is (are) Fibrous dysplasia ?
Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the arms and legs, the pelvis, and the ribs. Though many individuals with this condition do not have any symptoms, others may have bone pain, abnormally shaped bones, or an increased risk of fractures (broken bones). This condition can occur alone or as part of a genetic disorder, such as McCune-Albright syndrome. While there is no cure for fibrous dysplasia, the symptoms can be treated. Medications known as bisphosphonates can reduce pain and surgery may be indicated for fractures or to correct misshapen bones. + GARD + Fibrous dysplasia
What are the symptoms of Fibrous dysplasia ?
What are the symptoms of fibrous dysplasia? Fibrous dysplasia may cause no symptoms, mild symptoms, or severe symptoms. The most common symptoms are bone pain, bone deformities, fractures, and skin pigmentation differences (light brown spots on the skin). The problems that a person experiences depend on the specific bone(s) affected. For example, if the legs are of different lengths, they might limp when they walk; if the bones in the sinuses are affected, chronic sinus congestion may be a present. In rare cases, fibrous dysplasia is associated with abnormalities in the hormone-producing glands of the endocrine system. This may lead to precocious puberty, hyperthyroidism (excess thyroid hormone production), excess growth hormone (gigantism or acromegaly), and/or excess cortisol production (Cushing syndrome). If the face or skull bones are affected, hearing or vision loss may occur. + GARD + Fibrous dysplasia
What causes Fibrous dysplasia ?
What causes fibrous dysplasia? The cause of fibrous dysplasia has been linked to a gene mutation that occurs after conception, in the early stages of fetal development. The mutation involves a gene that affects the cells that produce bone. People with fibrous dysplasia carry this mutation in some, but not all cells of their body. It is not well understood why the mutation occurs, but it is not inherited from a parent, nor can it be passed on to future offspring. + GARD + Fibrous dysplasia
What are the treatments for Fibrous dysplasia ?
How might fibrous dysplasia be treated? Unfortunately, there is no cure for fibrous dysplasia. Treatment depends on the symptoms that develop. Fractures often require surgery, but can sometimes be treated with casting or splints.] Surgery is most appropriate in cases where fractures are likely to occur, or where bones have become misshapen. Surgery may also be used to relieve pain. Medications known as bisphosphonates are also used to relieve bone pain. Other healthy strategies such as physical activity and adequate intake of calcium, phosphorus, and vitamin D are also encouraged.[  Radiation therapy is not recommended for patients with fibrous dysplasia because it is associated with an increased risk of cancerous transformation. Careful, long-term follow-up to monitor fibrous dysplasia is advised. + GARD + Fibrous dysplasia
What is (are) Early Infantile Epileptic Encephalopathy ?
Ohtahara syndrome is a neurological disorder characterized by seizures.  The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures.  Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases cant be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres.  The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity.  This pattern is known as burst suppression. The seizures associated with Ohtahara syndrome are difficult to treat and the syndrome is severely progressive. Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome. + GARD + Early Infantile Epileptic Encephalopathy
What are the symptoms of Charcot-Marie-Tooth disease type 2O ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2O? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2O. 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 - Decreased motor nerve conduction velocity - Difficulty running - Distal muscle weakness - Distal sensory impairment - Frequent falls - Hyporeflexia - Limb muscle weakness - Motor delay - Pes cavus - Phenotypic variability - 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. + GARD + Charcot-Marie-Tooth disease type 2O
What are the symptoms of Mac Dermot Winter syndrome ?
What are the signs and symptoms of Mac Dermot Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mac Dermot Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nipple 90% Blepharophimosis 90% Cognitive impairment 90% Cryptorchidism 90% Dolichocephaly 90% Highly arched eyebrow 90% Hypertonia 90% Hypoplasia of penis 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Microcephaly 90% Overfolded helix 90% Prominent nasal bridge 90% Scrotal hypoplasia 90% Seizures 90% Short nose 90% Abnormality of the upper urinary tract 50% Abnormality of the voice 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Short neck 50% Single transverse palmar crease 50% Thickened nuchal skin fold 50% Underdeveloped nasal alae 50% Ventriculomegaly 50% Autosomal recessive inheritance - Death in infancy - Frontal upsweep of hair - Hydronephrosis - Hypoplastic male external genitalia - Low anterior hairline - Posteriorly rotated ears - Prominent glabella - Wide intermamillary distance - 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 + Mac Dermot Winter syndrome
What is (are) Familial osteochondritis dissecans ?
Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. Although osteochondritis dissecans can affect people of all ages, it is most commonly diagnosed in people between the ages of 10 and 20 years. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene and is inherited in an autosomal dominant manner. Treatment for the condition varies depending on many factors, including the age of the affected person and the severity of the symptoms, but may include rest; casting or splinting; surgery and/or physical therapy. + GARD + Familial osteochondritis dissecans
What are the symptoms of Familial osteochondritis dissecans ?
What are the signs and symptoms of Familial osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial osteochondritis dissecans. 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 - Exostoses - Growth abnormality - Osteoarthritis - Osteochondrosis dissecans - Short stature - Waddling gait - 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 osteochondritis dissecans
What causes Familial osteochondritis dissecans ?
What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime. In some families, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene. In these cases, which are referred to as familial osteochondritis dissecans, the condition generally affects multiple joints and is also associated with short stature and early-onset osteoarthritis. The ACAN gene encodes a protein that is important to the structure of cartilage. Mutations in this gene weaken cartilage, which leads to the various signs and symptoms of familial osteochondritis disssecans. + GARD + Familial osteochondritis dissecans
How to diagnose Familial osteochondritis dissecans ?
How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). For more information about the diagnosis of osteochondritis dissecans, please click here. + GARD + Familial osteochondritis dissecans
What are the treatments for Familial osteochondritis dissecans ?
How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. In children and young teens, osteochondritis dissecans often heals overtime without surgical treatment. These cases are often managed with rest and in some cases, crutches and/or splinting to relieve pain and swelling. If non-surgical treatments are not successful or the case is particularly severe (i.e. the cartilage and bone are moving around within the joint space), surgery may be recommended. Following surgery, physical therapy is often necessary to improve the strength and range of motion of the affected joint. + GARD + Familial osteochondritis dissecans
What is (are) Cohen syndrome ?
Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. Since Cohen syndrome was first described, over 100 cases have been reported worldwide. It is now known that the signs and symptoms present in people with Cohen syndrome may vary considerably. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called COH1 (also referred to as VPS13B). When Cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. No cure is currently available; however, treatment for Cohen syndrome is focused on improving or alleviating signs and symptoms as they arise. + GARD + Cohen syndrome
How to diagnose Cohen syndrome ?
How is Cohen syndrome diagnosed? The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. However, the rate at which mutations are detected via genetic testing varies by ethnicity. For example, the mutation detection rate in COH1 is higher among the Finnish and Old Amish compared to individuals of from other populations. + GARD + Cohen syndrome
What are the treatments for Cohen syndrome ?
How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correction of the problems, usually with glasses, often leads to general improvement of cognitive skills. If neutropenia (a condition in which an abnormally low number of white blood cells called neutrophils are present, which may result in an increased risk for infections)  is discovered when the blood is examined, treatment should be given. Follow-up should include annual eye exams and repeat testing of white blood cell count. Early intervention and physical, occupational, and speech therapy can address developmental delay, hypotonia, joint hyperextensibility, and motor clumsiness. + GARD + Cohen syndrome