falan42/medcuad_data huggingface dataset:
Topic: Sneddon syndrome
Question: What are the symptoms of Sneddon syndrome ?
Answer: What are the signs and symptoms of Sneddon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sneddon 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) Behavioral abnormality 90% Cerebral ischemia 90% Cutis marmorata 90% Memory impairment 90% Migraine 90% Vertigo 90% Acrocyanosis 50% Amaurosis fugax 50% Developmental regression 50% Hemiplegia/hemiparesis 50% Hypertension 50% Muscle weakness 50% Neurological speech impairment 50% Visual impairment 50% Autoimmunity 7.5% Chorea 7.5% Intracranial hemorrhage 7.5% Nephropathy 7.5% Seizures 7.5% Tremor 7.5% Antiphospholipid antibody positivity - Autosomal dominant inheritance - Dysarthria - Facial palsy - Headache - Hemiplegia - Mental deterioration - Progressive - Sporadic - Stroke - 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.
(Source: GARD)
Topic: Sneddon syndrome
Question: What causes Sneddon syndrome ?
Answer: What causes Sneddon syndrome? The cause of Sneddon syndrome is not well understood. It is possible that the syndrome has more than one cause (or way in which it may develop in a person). Some people develop Sneddon syndrome in association with other medical conditions such as obliterating vasculitis and antiphospholipid antibody syndrome. Most cases of Sneddon syndrome occur in people with no other family history of the condition, however there have been a few families with more than one member affected. A recent study found that in one family, Sneddon syndrome developed as a result of inheriting two changes in the CECR1 gene. In this family, Sneddon syndrome was inherited in an autosomal recessive fashion. Other case reports of familial Sneddon syndrome suggest an autosomal dominant pattern of inheritance.  It is not currently known if all familial cases are due to changes in CECR1.  Currently there is a research study titled, Genetics, Pathophysiology, and Treatment of Recessive Autoinflammatory Diseases, which is studying the effects of CECR1 gene mutations. The study lead is Dr. Daniel Kastner of the National Human Genome Research Institute. Click on the study title to learn more.
(Source: GARD)
Topic: Prekallikrein deficiency, congenital
Question: What are the symptoms of Prekallikrein deficiency, congenital ?
Answer: What are the signs and symptoms of Prekallikrein deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Prekallikrein deficiency, congenital. 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 - Prolonged partial thromboplastin time - 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.
(Source: GARD)
Topic: Hermansky Pudlak syndrome 2
Question: What are the symptoms of Hermansky Pudlak syndrome 2 ?
Answer: What are the signs and symptoms of Hermansky Pudlak syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky Pudlak syndrome 2. 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) Aberrant melanosome maturation - Acetabular dysplasia - Albinism - Autosomal recessive inheritance - Carious teeth - Coarse facial features - Congenital onset - Fair hair - Hepatomegaly - Hip dysplasia - Intellectual disability, mild - Long philtrum - Low-set ears - Microcephaly - Motor delay - Neutropenia - Nystagmus - Ocular albinism - Periodontitis - Photophobia - Posteriorly rotated ears - Pulmonary fibrosis - Recurrent bacterial infections - Reduced visual acuity - Smooth philtrum - Splenomegaly - Strabismus - Thrombocytopenia - Upslanted palpebral fissure - Visual impairment - Wide nasal bridge - 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.
(Source: GARD)
Topic: Multiple epiphyseal dysplasia 2
Question: What are the symptoms of Multiple epiphyseal dysplasia 2 ?
Answer: What are the signs and symptoms of Multiple epiphyseal dysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 2. 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 epiphysis morphology 90% Osteoarthritis 90% Abnormality of the hip bone 50% Arthralgia 50% Gait disturbance 50% Limitation of joint mobility 50% Micromelia 50% Short stature 50% Genu valgum 7.5% Genu varum 7.5% Autosomal dominant inheritance - Epiphyseal dysplasia - Flattened epiphysis - Irregular epiphyses - Knee osteoarthritis - Mild short stature - Short palm - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)
Topic: Anophthalmos with limb anomalies
Question: What are the symptoms of Anophthalmos with limb anomalies ?
Answer: 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.
(Source: GARD)
Topic: Intrahepatic cholangiocarcinoma
Question: What is (are) Intrahepatic cholangiocarcinoma ?
Answer: 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.
(Source: GARD)
Topic: Intrahepatic cholangiocarcinoma
Question: What are the treatments for Intrahepatic cholangiocarcinoma ?
Answer: 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.
(Source: GARD)
Topic: Primary central nervous system lymphoma
Question: What is (are) Primary central nervous system lymphoma ?
Answer: 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.
(Source: GARD)
Topic: Craniofacial dyssynostosis
Question: What are the symptoms of Craniofacial dyssynostosis ?
Answer: 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.
(Source: GARD)
Topic: Froelich syndrome
Question: What is (are) Froelich syndrome ?
Answer: 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.
(Source: GARD)
Topic: Froelich syndrome
Question: What are the symptoms of Froelich syndrome ?
Answer: 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.
(Source: GARD)
Topic: Froelich syndrome
Question: What causes Froelich syndrome ?
Answer: 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.
(Source: GARD)
Topic: Froelich syndrome
Question: How to diagnose Froelich syndrome ?
Answer: 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.
(Source: GARD)
Topic: Microcephalic primordial dwarfism, Montreal type
Question: What are the symptoms of Microcephalic primordial dwarfism, Montreal type ?
Answer: 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.
(Source: GARD)
Topic: Transient neonatal diabetes mellitus
Question: What is (are) Transient neonatal diabetes mellitus ?
Answer: 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.
(Source: GARD)
Topic: Transient neonatal diabetes mellitus
Question: What are the symptoms of Transient neonatal diabetes mellitus ?
Answer: 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.
(Source: GARD)