fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Northern epilepsy ?
What are the signs and symptoms of Northern epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Northern epilepsy. 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) Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Delayed speech and language development - Developmental regression - EEG abnormality - Increased neuronal autofluorescent lipopigment - Myoclonus - Progressive visual loss - Seizures - 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 + Northern epilepsy
What is (are) Erythropoietic protoporphyria ?
Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen. + GARD + Erythropoietic protoporphyria
What are the symptoms of Erythropoietic protoporphyria ?
What are the signs and symptoms of Erythropoietic protoporphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythropoietic protoporphyria. 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) Cutaneous photosensitivity 90% Urticaria 90% Biliary tract abnormality 7.5% Cirrhosis 7.5% Eczema 7.5% Edema 7.5% Microcytic anemia 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Cholelithiasis - Erythema - Hemolytic anemia - Hepatic failure - Hypertriglyceridemia - Pruritus - 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 + Erythropoietic protoporphyria
What causes Erythropoietic protoporphyria ?
What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene. + GARD + Erythropoietic protoporphyria
Is Erythropoietic protoporphyria inherited ?
How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small number of cases, an affected individual has two loss-of-function mutations. 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% (1 in 4) chance to be unaffected and not be a carrier + GARD + Erythropoietic protoporphyria
What are the symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet ?
What are the signs and symptoms of Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. 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) Cognitive impairment 90% Midline defect of the nose 90% Muscular hypotonia 90% Narrow forehead 90% Prominent metopic ridge 90% Trigonocephaly 90% Wide mouth 90% Autosomal recessive inheritance - Bifid nasal tip - Bifid nose - Brachycephaly - Broad metatarsal - Broad phalanx - Bulbous nose - Severe global developmental delay - 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 + Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
What are the symptoms of X-linked lissencephaly with abnormal genitalia ?
What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. 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 neuronal migration 90% Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Cryptorchidism 90% Hypoplasia of penis 90% Microcephaly 90% Seizures 90% Hypohidrosis 50% Malabsorption 50% Muscular hypotonia 50% Ventriculomegaly 50% Aganglionic megacolon 7.5% Exocrine pancreatic insufficiency 7.5% Frontal bossing 7.5% Hypertonia 7.5% Patent ductus arteriosus 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Decreased testicular size - Diarrhea - Duane anomaly - Feeding difficulties in infancy - Gliosis - High forehead - High palate - Hyperreflexia - Lissencephaly - Long philtrum - Long upper lip - Low-set ears - Micropenis - Pachygyria - Prominent nasal bridge - Severe global developmental delay - Spasticity - Specific learning disability - Wide anterior fontanel - Wide nasal bridge - X-linked 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 + X-linked lissencephaly with abnormal genitalia
What are the symptoms of Nijmegen breakage syndrome ?
What are the signs and symptoms of Nijmegen breakage syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nijmegen breakage 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) Abnormal hair quantity 90% Abnormal immunoglobulin level 90% Abnormal nasal morphology 90% Abnormality of chromosome stability 90% Abnormality of the upper urinary tract 90% Attention deficit hyperactivity disorder 90% Cognitive impairment 90% Convex nasal ridge 90% Decreased body weight 90% Deep philtrum 90% Depressed nasal bridge 90% Hearing abnormality 90% Hemolytic anemia 90% Low anterior hairline 90% Malabsorption 90% Microcephaly 90% Recurrent respiratory infections 90% Short neck 90% Short stature 90% Sinusitis 90% Sloping forehead 90% Thrombocytopenia 90% Upslanted palpebral fissure 90% Urogenital fistula 90% Aplasia/Hypoplasia of the thymus 50% Abnormality of neuronal migration 7.5% Acute leukemia 7.5% Cleft palate 7.5% Cutaneous photosensitivity 7.5% Freckling 7.5% Glioma 7.5% Lymphoma 7.5% Medulloblastoma 7.5% Muscle weakness 7.5% Non-midline cleft lip 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Anal atresia - Anal stenosis - Autoimmune hemolytic anemia - Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Cafe-au-lait spot - Choanal atresia - Cleft upper lip - Diarrhea - Dysgammaglobulinemia - Hydronephrosis - Hyperactivity - Intellectual disability - Intrauterine growth retardation - Long nose - Macrotia - Malar prominence - Mastoiditis - Neurodegeneration - Otitis media - Primary ovarian failure - Progressive vitiligo - Recurrent bronchitis - Recurrent infection of the gastrointestinal tract - Recurrent pneumonia - Recurrent urinary tract infections - Rhabdomyosarcoma - T lymphocytopenia - 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 + Nijmegen breakage syndrome
What is (are) Benign multicystic peritoneal mesothelioma ?
Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms usually include abdominal or pelvic pain, tenderness, and rarely, constipation and/or urinary hesitancy. Since it was first described in 1979, there have been approximately 130 cases described in the medical literature. BMPM is not related to prior asbestos exposure. The specific cause is unknown. + GARD + Benign multicystic peritoneal mesothelioma
What are the treatments for Benign multicystic peritoneal mesothelioma ?
How might benign multicystic peritoneal mesothelioma be treated? Surgery to remove the cystic lesions is the only effective treatment for BMPM. Aggressive surgical approaches are often recommended. Hormonal therapy has also been attempted in individual cases with variable degrees of success. Most affected individuals do not undergo chemotherapy and/or radiotherapy because these tumors are usually benign. + GARD + Benign multicystic peritoneal mesothelioma
What is (are) Microcephalic osteodysplastic primordial dwarfism type 2 ?
Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner. + GARD + Microcephalic osteodysplastic primordial dwarfism type 2
What are the symptoms of Chromosome 6q25 microdeletion syndrome ?
What are the signs and symptoms of Chromosome 6q25 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 6q25 microdeletion 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) Cognitive impairment 90% Microcephaly 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the corpus callosum 50% Epicanthus 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Plagiocephaly 50% Short stature 50% Wide nasal bridge 50% Abnormality of the genital system 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Hypertonia 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Rocker bottom foot 7.5% Seizures 7.5% Upslanted palpebral fissure 7.5% Ventriculomegaly 7.5% 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 + Chromosome 6q25 microdeletion syndrome
What is (are) Notalgia paresthetica ?
Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness of the skin).  There are no signs on the skin except for signs of chronic scratching and rubbing.  Amyloid deposits (a collection of a specific type of protein) may be found in skin biopsies, but this is thought to be a secondary event.  The cause of the itch in notalgia paresthetica may be due to the compression of spinal nerves by bones or muscles as the nerves emerge through the vertebrae to the back muscles.  Sometimes degenerative changes in the area of the vertebrae that innervate the affected back muscles can be seen, but not always.  Symptoms of notalgia paresthetica may respond to topical capsaicin treatment. + GARD + Notalgia paresthetica
What are the treatments for Notalgia paresthetica ?
How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include:  Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitters Local anaesthetic creams Amitriptyline tablets at night Transcutaneous electrical nerve stimulation (TENS) Gabapentin Oxcarbazepine Botulinum toxin Phototherapy Exercise Additional information about treatment of notalgia paresthetica can be accessed by clicking here. You can find relevant journal articles on treatment of notalgia paresthetica through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using 'notalgia paresthetica AND treatment' as your search term should locate 10 articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed + GARD + Notalgia paresthetica
What are the symptoms of Preaxial polydactyly type 4 ?
What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 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) 1-5 toe syndactyly - 3-4 finger syndactyly - Abnormality of earlobe - Autosomal dominant inheritance - Dysplastic distal thumb phalanges with a central hole - Preaxial polydactyly - 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 + Preaxial polydactyly type 4
What are the symptoms of Imperforate oropharynx-costo vetebral anomalies ?
What are the signs and symptoms of Imperforate oropharynx-costo vetebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Imperforate oropharynx-costo vetebral anomalies. 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 pharynx 90% Abnormality of the ribs 90% Low-set, posteriorly rotated ears 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Vertebral segmentation defect 90% Abnormality of the antitragus 50% Aplasia/Hypoplasia of the tongue 50% Arachnodactyly 50% Choanal atresia 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Joint hypermobility 50% Overfolded helix 50% Polyhydramnios 50% Premature birth 50% Wide nasal bridge 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 + Imperforate oropharynx-costo vetebral anomalies