fenil210/Med-Lamma huggingface dataset:
What is (are) Shapiro syndrome ?
Shapiro syndrome is a rare disease affecting about 50 people worldwide that is typically characterized by recurrent episodes of excessive sweating and hypothermia and the agenesis of the corpus callosum. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and occurring from hours to years; the reason for the variations in the episodes is not yet known. The cause of the condition is currently unknown; however, a "resetting" of the temperature of the body to a lower level has been suggested. Although different treatment options have been attempted in some patients, the treatments have been unsuccessful or of doubtful efficacy because of the small number of individuals that have been documented as having this condition. + GARD + Shapiro syndrome
What are the symptoms of Shapiro syndrome ?
What are the signs and symptoms of Shapiro syndrome? Shapiro syndrome generally consists of three findings: spontaneous periodic hypothermia, excessive sweating, and agenesis of the corpus callosum. However, there has been a documented case of a 4-year-old girl with Shapiro syndrome who did not have agenesis of the corpus callosum. Additionally, there have been some patients who also produce excessive amounts of urine  (polyuria) and have experienced excessive thirst (polydipsia).  Given that some people with Shapiro syndrome do not respond well to the various treatment options available for the condition, the symptoms may worsen with time for some people.   The Human Phenotype Ontology provides the following list of signs and symptoms for Shapiro 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) Gait disturbance 90% Hyperhidrosis 90% Hypothermia 90% Incoordination 90% Nausea and vomiting 90% Pallor 90% Arrhythmia 50% Reduced consciousness/confusion 50% Seizures 50% Sleep disturbance 50% Tremor 50% Abnormal pattern of respiration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Diarrhea 7.5% Skin rash 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 + Shapiro syndrome
What are the treatments for Shapiro syndrome ?
What treatment options have been attempted for Shapiro syndrome? Evaluating effective treatment options for Shapiro syndrome can be difficult because of the limited number of diagnosed cases, the periodic nature of the disease, and other factors. Nonetheless, the following have been attempted and have resulted in varying responses: anticonvulsants, clonidine, cyproheptadine, glycopyrrolate, bromocriptine, chlorpromazine, or sympathectomy. It is recommended that treatment options be discussed with a health care provider. Only a patient's health care provider can determine the appropriate course of treatment. + GARD + Shapiro syndrome
What is (are) Floating-Harbor syndrome ?
Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial features. The exact cause of Floating-Harbor syndrome is not known. Treatment is symptomatic and supportive. + GARD + Floating-Harbor syndrome
What are the symptoms of Floating-Harbor syndrome ?
What are the signs and symptoms of Floating-Harbor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Floating-Harbor 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 eyelashes 90% Abnormality of the voice 90% Abnormality of thumb phalanx 90% Broad columella 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Short neck 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of immune system physiology 50% Abnormality of the clavicle 50% Abnormality of the soft palate 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Constipation 50% Deeply set eye 50% Hypertrichosis 50% Intrauterine growth retardation 50% Joint dislocation 50% Joint hypermobility 50% Malabsorption 50% Triangular face 50% Underdeveloped nasal alae 50% Abnormality of the fingernails 7.5% Abnormality of the urethra 7.5% Attention deficit hyperactivity disorder 7.5% Hypoplasia of penis 7.5% Strabismus 7.5% Telecanthus 7.5% Trigonocephaly 7.5% Atria septal defect 5% Coarctation of aorta 5% Conductive hearing impairment 5% Congenital posterior urethral valve 5% Cryptorchidism 5% Hydronephrosis 5% Hypermetropia 5% Hypospadias 5% Inguinal hernia 5% Mesocardia 5% Nephrocalcinosis 5% Persistent left superior vena cava 5% Recurrent otitis media 5% Umbilical hernia 5% Varicocele 5% Autosomal dominant inheritance - Celiac disease - Cone-shaped epiphyses of the phalanges of the hand - Downturned corners of mouth - Expressive language delay - Hirsutism - Joint laxity - Long eyelashes - Low posterior hairline - Posteriorly rotated ears - Prominent nose - Smooth philtrum - 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 + Floating-Harbor syndrome
What causes Floating-Harbor syndrome ?
What causes Floating-Harbor syndrome? The exact cause of Floating-Harbor syndrome is not known. Autosomal dominant inheritance has been suggested. + GARD + Floating-Harbor syndrome
What are the treatments for Floating-Harbor syndrome ?
How might Floating-Harbor syndrome be treated? Treatment for Floating-Harbor syndrome is symptomatic and supportive. For example, dental problems and cataracts may be surgically corrected and sign language and/or speech therapy may help with delays in expressive language. Additional management strategies may be obtained from the Floating Harbor Syndrome Support Group at: http://www.floatingharborsyndromesupport.com/ or 336-492-2641. + GARD + Floating-Harbor syndrome
What is (are) Autosomal recessive hyper IgE syndrome ?
Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far. In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES. AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene. + GARD + Autosomal recessive hyper IgE syndrome
What are the symptoms of Autosomal recessive hyper IgE syndrome ?
What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE 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) Asthma 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Eczema 90% Otitis media 90% Sinusitis 90% Skin ulcer 90% Verrucae 90% Atopic dermatitis - Autosomal recessive inheritance - Cerebral vasculitis - Eosinophilia - Hemiplegia - Infantile onset - Neoplasm - Recurrent bacterial infections - Recurrent fungal infections - Recurrent sinopulmonary infections - Recurrent viral infections - Subarachnoid hemorrhage - 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 + Autosomal recessive hyper IgE syndrome
What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ?
What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. 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 femur 90% Abnormality of the sacroiliac joint 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Aplasia/Hypoplasia of the lungs 50% Frontal bossing 50% Hearing impairment 50% Increased nuchal translucency 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Limitation of joint mobility 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - 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 + Severe achondroplasia with developmental delay and acanthosis nigricans
What is (are) Calciphylaxis ?
Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs.  The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis).  The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can develop and become infected easily.  Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.  These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more than a few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure.  The exact cause of calciphylaxis is unknown.  Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. + GARD + Calciphylaxis
What is (are) Acrodysplasia scoliosis ?
Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. + GARD + Acrodysplasia scoliosis
What are the symptoms of Acrodysplasia scoliosis ?
What are the signs and symptoms of Acrodysplasia scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodysplasia scoliosis. 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) Brachydactyly syndrome 90% Scoliosis 90% Spina bifida occulta 50% Vertebral segmentation 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 + Acrodysplasia scoliosis
What is (are) Myxopapillary ependymoma ?
Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. The age of diagnosis ranges from 6 to 82 years. Symptoms of an ependymoma are related to the location and size of the tumor and may include nausea, vomiting, headache, pain, numbness, bowel or bladder symptoms, and various other signs and symptoms. The cause of ependymomas is unknown. They are known to recur locally (more commonly in individuals diagnosed in childhood). Treatment may vary depending on the location, grade, and whether the tumor has spread to the spine, but typically includes aggressive surgery. Management may also include chemotherapy and radiation therapy. + GARD + Myxopapillary ependymoma
What are the treatments for Myxopapillary ependymoma ?
How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outlook in these cases. However, surgery is typically less curative in tumors that are large, multifocal or extend outside the spinal cord. These tumors have the potential to regrow after the initial diagnosis and surgery (recur), particularly in individuals diagnosed as children. Following surgery, radiation therapy may be considered to destroy any cancer cells that could remain in the body.  The use of chemotherapy as another treatment of myxopapillary ependymoma remains controversial; chemotherapy has been widely used in pediatric individuals due to more aggressive disease. The usefulness of additional therapies following surgery is unclear for the subset of individuals with recurrence or in individuals in whom total resection cannot be achieved. + GARD + Myxopapillary ependymoma
What are the symptoms of Copper deficiency, familial benign ?
What are the signs and symptoms of Copper deficiency, familial benign? The Human Phenotype Ontology provides the following list of signs and symptoms for Copper deficiency, familial benign. 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) Acne 50% Deep philtrum 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Wide nasal bridge 50% Abnormal hair quantity 7.5% Abnormality of the femur 7.5% Abnormality of the tibia 7.5% Anemia 7.5% Abnormality of the skeletal system - Curly hair - Early balding - Failure to thrive - Hypocupremia - Seborrheic dermatitis - 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 + Copper deficiency, familial benign
What is (are) Frank Ter Haar syndrome ?
Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion. + GARD + Frank Ter Haar syndrome
What are the symptoms of Frank Ter Haar syndrome ?
What are the signs and symptoms of Frank Ter Haar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frank Ter Haar 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) Motor delay 5% Abnormality of cardiovascular system morphology - Anterior concavity of thoracic vertebrae - Bowing of the long bones - Broad clavicles - Broad nasal tip - Buphthalmos - Coarse facial features - Cortical irregularity - Delayed cranial suture closure - Dental malocclusion - Flared metaphysis - Flat occiput - Full cheeks - Gingival overgrowth - Growth delay - High palate - Hip dysplasia - Hypertelorism - Large eyes - Low-set ears - Osteopenia - Osteoporosis - Pectus excavatum - Prominent coccyx - Prominent forehead - Proptosis - Protruding ear - Short long bone - Short phalanx of finger - Talipes equinovarus - Wide anterior fontanel - Wide mouth - 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 + Frank Ter Haar syndrome