fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Anophthalmos with limb anomalies ?
What are the signs and symptoms of Anophthalmos with limb anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb 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 eyebrow 90% Abnormality of the metacarpal bones 90% Aplasia/Hypoplasia affecting the eye 90% Blepharophimosis 90% Finger syndactyly 90% Frontal bossing 90% Sandal gap 90% Synostosis of carpal bones 90% Toe syndactyly 90% Abnormal form of the vertebral bodies 50% Abnormality of bone mineral density 50% Abnormality of the fibula 50% Abnormality of the thumb 50% Abnormality of the tibia 50% Cleft upper lip 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Hand polydactyly 50% Optic atrophy 50% Single transverse palmar crease 50% Split hand 50% Tarsal synostosis 50% Abnormal localization of kidney 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Malar flattening 7.5% Postaxial foot polydactyly 7.5% Talipes 7.5% Venous insufficiency 7.5% Abnormality of the cardiovascular system - Abnormality of the hair - Anophthalmia - Autosomal recessive inheritance - Camptodactyly of 2nd-5th fingers - Deep philtrum - Depressed nasal bridge - Fibular hypoplasia - Flared nostrils - Fused fourth and fifth metacarpals - High palate - Hip dislocation - Intellectual disability - Low-set ears - Microphthalmia - Oligodactyly (feet) - Oligodactyly (hands) - Postaxial hand polydactyly - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Retrognathia - Short nose - Short palpebral fissure - Talipes equinovarus - Tibial bowing - 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 + Anophthalmos with limb anomalies
What is (are) Intrahepatic cholangiocarcinoma ?
Intrahepatic cholangiocarcinoma is a cancer that develops in the cells within the bile ducts; both inside and outside the liver. The terms cholangiocarinoma and bile duct cancer are often used to refer to the same condition. This condition occurs slightly more often in males than females and usually affects people who are between 50-70 years old. Signs and symptoms of intrahepatic cholangiocarcinoma include jaundice, abdominal pain, fever, weight loss, weakness and itching. Treatment options may include surgery to remove the bile duct and parts of the liver, chemotherapy and radiation. + GARD + Intrahepatic cholangiocarcinoma
What are the treatments for Intrahepatic cholangiocarcinoma ?
How might intrahepatic cholangiocarcinoma be treated? Can it be cured? Surgery to completely remove the bile duct and tumor is the only option that can possibly lead to a cure for patients. The type of operation will depend on the size and location of the cancer. For cases of intrahepatic cancers that cannot be surgically removed, a liver transplantation may be an option. In some cases, a liver transplant might even cure the cancer. Finally, radiation and chemotherapy are also treatment options available for intrahepatic cholangiocarcioma either in addition to surgery or on their own. + GARD + Intrahepatic cholangiocarcinoma
What is (are) Primary central nervous system lymphoma ?
Primary central nervous system lymphoma (primary CNS lymphoma) is a rare form of non-Hodgkin lymphoma in which cancerous cells develop in the lymph tissue of the brain and/or spinal cord. Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). The signs and symptoms vary based on which parts of the central nervous system are affected, but may include nausea and vomiting; seizures; headaches; arm or leg weakness; confusion; double vision and/or hearing loss. The exact underlying cause of primary CNS lymphoma is poorly understood; however, people with a weakened immune system (such as those with acquired immunodeficiency syndrome) or who have had an organ transplant appear to have an increased risk of developing the condition. Treatment varies based on the severity of the condition and location of the cancerous cells. + GARD + Primary central nervous system lymphoma
What are the symptoms of Craniofacial dyssynostosis ?
What are the signs and symptoms of Craniofacial dyssynostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniofacial dyssynostosis. 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% Craniosynostosis 90% Dolichocephaly 90% Frontal bossing 90% Hypertelorism 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Atresia of the external auditory canal 50% Clinodactyly of the 5th finger 50% Hydrocephalus 50% Open mouth 50% Short philtrum 50% Short stature 50% Strabismus 50% Umbilical hernia 50% Underdeveloped nasal alae 50% Underdeveloped supraorbital ridges 50% Abnormality of the oral cavity 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Epicanthus 7.5% Facial asymmetry 7.5% Nystagmus 7.5% Patent ductus arteriosus 7.5% Sacral dimple 7.5% Short neck 7.5% Abnormal location of ears - Abnormal shape of the occiput - Agenesis of corpus callosum - Arnold-Chiari type I malformation - Brachyturricephaly - Cryptorchidism - Esotropia - Flat midface - Generalized hypotonia - Horseshoe kidney - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypospadias - Intellectual disability - Malar flattening - Narrow forehead - Pyloric stenosis - Seizures - Ventricular septal defect - Ventriculomegaly - 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 + Craniofacial dyssynostosis
What is (are) Froelich syndrome ?
Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired (i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today. + GARD + Froelich syndrome
What are the symptoms of Froelich syndrome ?
What are the signs and symptoms of Froelich syndrome? Signs and symptoms of Froelich syndrome include obesity, small testes, delay in the onset of puberty, short stature (compared to other family members of the same sex), malformed or undersized fingernails, and headaches. Some children with Froehlich syndrome may have mental retardation, difficulties with vision, and in rare cases diabetes. Other symptoms of the syndrome may include excessive thirst, excessive urination, and very delicate skin. + GARD + Froelich syndrome
What causes Froelich syndrome ?
What causes Froelich syndrome? Froehlich syndrome is usually caused by lesions in the hypothalamic gland or pituitary gland. The lesions may be caused by a tumor (e.g., craniopharyngioma), swelling from an infection (e.g., tuberculosis), encephalitis, or other brain injuries. + GARD + Froelich syndrome
How to diagnose Froelich syndrome ?
How might Froelich syndrome be diagnosed? Diagnosis of Froelich syndrome may be difficult and requires cautious and thoughtful clinical examination, testing urine for low levels of pituitary hormones, and likely other additional tests before a definitive diagnosis of Froehlich syndrome can be made. + GARD + Froelich syndrome
What are the symptoms of Microcephalic primordial dwarfism, Montreal type ?
What are the signs and symptoms of Microcephalic primordial dwarfism, Montreal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic primordial dwarfism, Montreal type. 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 dermatoglyphics 90% Abnormal hair quantity 90% Abnormality of the nipple 90% Abnormality of the palate 90% Carious teeth 90% Cognitive impairment 90% Convex nasal ridge 90% Cryptorchidism 90% Dental malocclusion 90% Dry skin 90% EEG abnormality 90% Hernia of the abdominal wall 90% Hyperhidrosis 90% Hyperreflexia 90% Hypertonia 90% Kyphosis 90% Lipoatrophy 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Premature graying of hair 90% Ptosis 90% Reduced bone mineral density 90% Scoliosis 90% Shagreen patch 90% Short stature 90% Vertebral segmentation defect 90% Alopecia of scalp - Autosomal recessive inheritance - Brain very small - Excessive wrinkling of palmar skin - Intellectual disability - Large eyes - Narrow face - Retrognathia - Severe short stature - 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 + Microcephalic primordial dwarfism, Montreal type
What is (are) Transient neonatal diabetes mellitus ?
Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. These cases are referred to as 6q24-related TNDB; most (but not all) of these cases are not inherited. Other genetic causes include mutations in the KCNJ11 and ABCC8 genes, which usually cause permanent neonatal diabetes. Treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin. + GARD + Transient neonatal diabetes mellitus
What are the symptoms of Transient neonatal diabetes mellitus ?
What are the signs and symptoms of Transient neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient neonatal diabetes mellitus. 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) Type II diabetes mellitus 2/7 Autosomal dominant inheritance - Dehydration - Hyperglycemia - Intrauterine growth retardation - Severe failure to thrive - Transient neonatal diabetes mellitus - 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 + Transient neonatal diabetes mellitus
What are the symptoms of Tuberous sclerosis, type 1 ?
What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, 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) Intellectual disability 30% Abnormality of the respiratory system - Achromatic retinal patches - Astrocytoma - Attention deficit hyperactivity disorder - Autism - Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral calcification - Chordoma - Dental enamel pits - Ependymoma - Gingival fibromatosis - Hypomelanotic macule - Hypothyroidism - Infantile spasms - Optic glioma - Phenotypic variability - Precocious puberty - Premature chromatid separation - Projection of scalp hair onto lateral cheek - Renal angiomyolipoma - Renal cell carcinoma - Renal cyst - Shagreen patch - Specific learning disability - Subcutaneous nodule - Subependymal nodules - Subungual fibromas - Wolff-Parkinson-White syndrome - 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 + Tuberous sclerosis, type 1
What is (are) Chronic inflammatory demyelinating polyneuropathy ?
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. Symptoms often include tingling or numbness (first in the toes and fingers); weakness of the arms and legs; loss of deep tendon reflexes; fatigue; and abnormal sensations. CIDP is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. CIDP is closely related to Guillain-Barre syndrome (GBS) and is considered the "chronic counterpart" of GBS. Treatment may include corticosteroids, immunosuppressant drugs, plasma exchange, physiotherapy, and/or intravenous immunoglobulin (IVIG) therapy. + GARD + Chronic inflammatory demyelinating polyneuropathy
What are the symptoms of Chronic inflammatory demyelinating polyneuropathy ?
What are the signs and symptoms of Chronic inflammatory demyelinating polyneuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic inflammatory demyelinating polyneuropathy. 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) Acute demyelinating polyneuropathy - 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 + Chronic inflammatory demyelinating polyneuropathy
What causes Chronic inflammatory demyelinating polyneuropathy ?
What causes chronic inflammatory demyelinating polyneuropathy (CIDP)? The exact underlying cause of CIDP is unknown, but there is evidence to support that it is related to the immune system and may have multiple triggers. It is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. However, no specific provoking antigens or other predisposing factors for CIDP have been identified. In several case reports, treatment with tumor necrosis factor-alpha inhibitors has been associated with the subsequent development of chronic demyelinating neuropathies. + GARD + Chronic inflammatory demyelinating polyneuropathy
Is Chronic inflammatory demyelinating polyneuropathy inherited ?
Is chronic inflammatory demyelinating polyneuropathy (CIDP) inherited? CIDP is not known to be inherited and is considered an acquired disorder. No clear genetic predisposition or other predisposing factors for CIDP have been identified. + GARD + Chronic inflammatory demyelinating polyneuropathy
What are the treatments for Chronic inflammatory demyelinating polyneuropathy ?
How might chronic inflammatory demyelinating polyneuropathy (CIDP) be treated? The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucocorticoids - help reduce inflammation and relieve symptoms plasma exchange - remove antibodies from the blood The treatment choice is influenced by the preference of the affected person, side effects, treatment cost, duration, ease of administration, and availability. Advantages and disadvantages of standard therapies may include the following: IVIG and plasma exchange may lead to a more rapid improvement in CIDP than glucocorticoid therapy, but are less likely than glucocorticoids to produce a remission IVIG is expensive, and its supply is sometimes limited Glucocorticoids are inexpensive, but chronic use is limited by common and important side effects Plasma exchange is expensive, invasive, and available only at specialized centers Other medications that suppress the immune system (immunosuppressants) may also be used. Physiotherapy may improve muscle strength, function and mobility. + GARD + Chronic inflammatory demyelinating polyneuropathy
What is (are) Parkes Weber syndrome ?
Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. Individuals may also have pain in the affected limb and a difference in size between the limbs. There has been evidence that some cases of PWS are caused by mutations in the RASA1 gene and are inherited in an autosomal dominant manner. Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb. + GARD + Parkes Weber syndrome