fenil210/Med-Lamma huggingface dataset:
What are the symptoms of L-arginine:glycine amidinotransferase deficiency ?
What are the signs and symptoms of L-arginine:glycine amidinotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for L-arginine:glycine amidinotransferase 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) Gowers sign 5% Abnormality of creatine metabolism - Autism - Autosomal recessive inheritance - Delayed speech and language development - Failure to thrive - Infantile onset - Intellectual disability - Organic aciduria - 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 + L-arginine:glycine amidinotransferase deficiency
What are the symptoms of Genitopatellar syndrome ?
What are the signs and symptoms of Genitopatellar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genitopatellar 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 nasal morphology 90% Abnormality of female external genitalia 90% Abnormality of pelvic girdle bone morphology 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cryptorchidism 90% Microcephaly 90% Patellar aplasia 90% Polycystic kidney dysplasia 90% Prominent nasal bridge 90% Scrotal hypoplasia 90% Abnormal hair quantity 50% Aplasia/Hypoplasia of the corpus callosum 50% Delayed eruption of teeth 50% Fine hair 50% Hypertelorism 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Neurological speech impairment 50% Seizures 50% Talipes 50% Aplasia/Hypoplasia of the lungs 7.5% Apnea 7.5% Atria septal defect 7.5% Hearing impairment 7.5% Radioulnar synostosis 7.5% Short stature 7.5% Agenesis of corpus callosum - Autosomal recessive inheritance - Clitoral hypertrophy - Coarse facial features - Colpocephaly - Congenital hip dislocation - Dysphagia - Hip contracture - Hydronephrosis - Hypertrophic labia minora - Hypoplastic inferior pubic rami - Hypoplastic ischia - Intellectual disability, progressive - Knee flexion contracture - Laryngomalacia - Micropenis - Multicystic kidney dysplasia - Muscular hypotonia - Patellar dislocation - Periventricular gray matter heterotopia - Polyhydramnios - Prominent nose - Pulmonary hypoplasia - Short phalanx of finger - Sparse scalp hair - Talipes equinovarus - Ventricular septal defect - Wide nose - 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 + Genitopatellar syndrome
What is (are) Muscular dystrophy, congenital, merosin-positive ?
The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. It usually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans. + GARD + Muscular dystrophy, congenital, merosin-positive
What are the symptoms of Muscular dystrophy, congenital, merosin-positive ?
What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. 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 recessive inheritance - Congenital muscular dystrophy - Congenital onset - Decreased fetal movement - Facial palsy - Flexion contracture - Increased variability in muscle fiber diameter - Joint laxity - Mildly elevated creatine phosphokinase - Myopathy - Neck muscle weakness - Neonatal hypotonia - Proximal muscle weakness - Respiratory insufficiency due to muscle weakness - Scoliosis - Shoulder girdle muscle weakness - Variable expressivity - 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 + Muscular dystrophy, congenital, merosin-positive
What are the symptoms of Mucopolysaccharidosis type VII ?
What are the signs and symptoms of Mucopolysaccharidosis type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VII. 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 pleura 90% Ascites 90% Coarse facial features 90% Cognitive impairment 90% Lymphedema 90% Malar flattening 90% Opacification of the corneal stroma 90% Recurrent respiratory infections 90% Scoliosis 90% Short stature 90% Umbilical hernia 90% Abnormality of the hip bone 50% Abnormality of the liver 50% Epiphyseal stippling 50% Hydrops fetalis 50% Limitation of joint mobility 50% Muscular hypotonia 50% Splenomegaly 50% Talipes 50% Arteriovenous malformation 7.5% Enlarged thorax 7.5% Short neck 7.5% Abnormality of the heart valves - Acetabular dysplasia - Anterior beaking of lower thoracic vertebrae - Anterior beaking of lumbar vertebrae - Autosomal recessive inheritance - Corneal opacity - Dermatan sulfate excretion in urine - Dysostosis multiplex - Flexion contracture - Hearing impairment - Hepatomegaly - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - J-shaped sella turcica - Macrocephaly - Narrow greater sacrosciatic notches - Neurodegeneration - Pectus carinatum - Platyspondyly - Postnatal growth retardation - Proximal tapering of metacarpals - Thoracolumbar kyphosis - Urinary glycosaminoglycan excretion - 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 + Mucopolysaccharidosis type VII
What is (are) Paraneoplastic cerebellar degeneration ?
Paraneoplastic syndromes are a group of rare disorders that include paraneoplastic cerebellar degeneration (PCD). Paraneoplastic syndromes are thought to result from an abnormal immune response to an underlying (and often undetected) malignant tumor. PCD is a rare, non-metastatic complication of cancer. PCD is typically thought to be caused by antibodies generated against tumor cells. Instead of just attacking the cancer cells, the cancer-fighting antibodies also attack normal cells in the cerebellum. PCD occurs most often in individuals with the following cancers: ovarian cancer, cancer of the uterus, breast cancer, small-cell lung cancer, and Hodgkin lymphoma. Symptoms of PCD may include dizziness, loss of coordination, blurred vision, nystagmus, ataxia, and speech difficulties. + GARD + Paraneoplastic cerebellar degeneration
What are the symptoms of Kenny-Caffey syndrome type 1 ?
What are the signs and symptoms of Kenny-Caffey syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Kenny-Caffey 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) Anemia - Autosomal recessive inheritance - Birth length less than 3rd percentile - Calvarial osteosclerosis - Carious teeth - Congenital hypoparathyroidism - Decreased skull ossification - Delayed closure of the anterior fontanelle - Delayed skeletal maturation - Hypertelorism - Hypocalcemia - Hypomagnesemia - Intrauterine growth retardation - Long clavicles - Proportionate short stature - Recurrent bacterial infections - Seizures - Short foot - Short palm - Slender long bone - Small hand - Tetany - Thin clavicles - Thin ribs - 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 + Kenny-Caffey syndrome type 1
What are the symptoms of Keratitis, hereditary ?
What are the signs and symptoms of Keratitis, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratitis, hereditary. 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 - Keratitis - Opacification of the corneal stroma - 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 + Keratitis, hereditary
What is (are) Macular degeneration ?
Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. There are 2 major types of AMD, known as the dry form and the wet form. The dry form accounts for up to 90% of cases and is characterized by slowly progressive vision loss. The wet form is associated with severe vision loss that can worsen rapidly. AMD is caused by a combination of genetic and environmental factors, some of which have been identified. Increasing age is the most important non-genetic risk factor. The condition appears to run in families in some cases. While there is currently no cure for AMD, there are therapies available to help slow the progression of the condition. + GARD + Macular degeneration
What is (are) Levator syndrome ?
Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms. + GARD + Levator syndrome
What is (are) Glycogen storage disease type 13 ?
Glycogen storage disease type 13 (GSD13), also known as -enolase deficiency, is an inherited disease of the muscles.  The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain.  GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive pattern. + GARD + Glycogen storage disease type 13
What are the symptoms of Glycogen storage disease type 13 ?
What are the signs and symptoms of Glycogen storage disease type 13? Glycogen storage disease type 13 causes muscle pain (myalgia).  Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 13. 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) Adult onset - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Exercise intolerance - Increased muscle glycogen content - Myalgia - 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 13
What causes Glycogen storage disease type 13 ?
What causes glycogen storage disease type 13? Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene.  Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise.  The ENO3 gene makes a chemical called enolase, which is an enzyme that helps the muscles use glycogen for energy.  In GSD13, the ENO3 genes do not work properly such that the body cannot make enolase, and as a result, the muscles do not have enough energy to work properly. + GARD + Glycogen storage disease type 13
How to diagnose Glycogen storage disease type 13 ?
How is glycogen storage disease type 13 diagnosed? Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells.  Genetic testing can also be done to look for changes (mutations) in the ENO3 gene. + GARD + Glycogen storage disease type 13
What are the symptoms of Paroxysmal ventricular fibrillation ?
What are the signs and symptoms of Paroxysmal ventricular fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal ventricular fibrillation. 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) Ventricular fibrillation - 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 + Paroxysmal ventricular fibrillation
What are the symptoms of Kasznica Carlson Coppedge syndrome ?
What are the signs and symptoms of Kasznica Carlson Coppedge syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kasznica Carlson Coppedge 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 palate 90% Hearing abnormality 90% Myelomeningocele 90% Ventricular septal defect 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 + Kasznica Carlson Coppedge syndrome
What is (are) Interstitial cystitis ?
Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and abdomen. Symptoms may vary, but often include an urgent or frequent need to urinate. Many of the individuals affected by IC are women. Because IC varies so much in symptoms and severity, most researchers believe it is not one, but several diseases. In recent years, scientists have started to use the terms bladder pain syndrome (BPS) or painful bladder syndrome (PBS) to describe cases with painful urinary symptoms that may not meet the strictest definition of IC. While there is no cure for IC/PBS, in many cases, the symptoms can be managed. Treatments include dietary and lifestyle changes; distending, or inflating, the bladder; bathing the inside of the bladder with a medicine solution; oral medicines and in rare cases, surgery. + GARD + Interstitial cystitis