umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Fabry disease ?

Answer: What are the signs and symptoms of Fabry disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Fabry disease. 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) Abdominal pain 90% Anemia 90% Arthralgia 90% Arthritis 90% Cerebral ischemia 90% Congestive heart failure 90% Conjunctival telangiectasia 90% Corneal dystrophy 90% Hematuria 90% Hyperkeratosis 90% Hypohidrosis 90% Malabsorption 90% Myalgia 90% Nephrotic syndrome 90% Opacification of the corneal stroma 90% Paresthesia 90% Renal insufficiency 90% Telangiectasia of the skin 90% Abnormality of lipid metabolism 50% Abnormality of the aortic valve 50% Abnormality of the genital system 50% Abnormality of the mitral valve 50% Abnormality of the renal tubule 50% Anorexia 50% Arrhythmia 50% Behavioral abnormality 50% Cataract 50% Coarse facial features 50% Cognitive impairment 50% Emphysema 50% Nausea and vomiting 50% Nephropathy 50% Optic atrophy 50% Proteinuria 50% Short stature 50% Thick lower lip vermilion 50% Abnormality of temperature regulation 7.5% Abnormality of the endocardium 7.5% Abnormality of the femur 7.5% Chronic obstructive pulmonary disease 7.5% Coronary artery disease 7.5% Developmental regression 7.5% Diabetes insipidus 7.5% Glomerulopathy 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Lymphedema 7.5% Reduced bone mineral density 7.5% Respiratory insufficiency 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Vertigo 7.5% Abnormality of the hand - Angina pectoris - Angiokeratoma - Delayed puberty - Diarrhea - Dysautonomia - Fasciculations - Juvenile onset - Left ventricular hypertrophy - Left ventricular septal hypertrophy - Muscle cramps - Myocardial infarction - Nausea - Obstructive lung disease - Tenesmus - Transient ischemic attack - Vomiting - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Norrie disease ?

Answer: What are the signs and symptoms of Norrie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Norrie disease. 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 retinal vasculature 90% Anterior chamber synechiae 90% Aplasia/Hypoplasia of the iris 90% Cataract 90% Chorioretinal abnormality 90% Deeply set eye 90% Hypotelorism 90% Macrotia 90% Narrow nasal bridge 90% Neoplasm of the eye 90% Opacification of the corneal stroma 90% Sclerocornea 90% Vascular neoplasm 90% Abnormality of the vitreous humor 50% Aplasia/Hypoplasia of the lens 50% Cognitive impairment 50% Erectile abnormalities 50% Nystagmus 50% Retinal detachment 50% Sensorineural hearing impairment 50% Stereotypic behavior 50% Venous insufficiency 50% Abnormality of immune system physiology 7.5% Abnormality of the diencephalon 7.5% Abnormality of the helix 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Cryptorchidism 7.5% Decreased body weight 7.5% Developmental regression 7.5% Diabetes mellitus 7.5% Ectopia lentis 7.5% EEG abnormality 7.5% Glaucoma 7.5% Hallucinations 7.5% Hyperreflexia 7.5% Hypertonia 7.5% Hypoplasia of the zygomatic bone 7.5% Involuntary movements 7.5% Microcephaly 7.5% Migraine 7.5% Muscle weakness 7.5% Muscular hypotonia 7.5% Optic atrophy 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Sleep disturbance 7.5% Thin vermilion border 7.5% Aggressive behavior - Blindness - Dementia - Hypoplasia of the iris - Intellectual disability, progressive - Microphthalmia - Psychosis - Retinal dysplasia - Retinal fold - Shallow anterior chamber - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Desmosterolosis ?

Answer: What are the signs and symptoms of Desmosterolosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmosterolosis. 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) Aplasia/Hypoplasia of the corpus callosum 90% Cleft palate 90% Cognitive impairment 90% Hypertonia 90% Intrauterine growth retardation 90% Microcephaly 90% Short stature 90% Abnormality of the ribs 50% Aplasia/Hypoplasia involving the nose 50% Depressed nasal bridge 50% Large earlobe 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Nystagmus 50% Seizures 50% Strabismus 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Anomalous pulmonary venous return 7.5% Aplasia/Hypoplasia of the skin 7.5% Epicanthus 7.5% Frontal bossing 7.5% Hydrocephalus 7.5% Increased bone mineral density 7.5% Intestinal malrotation 7.5% Limb undergrowth 7.5% Macrocephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Talipes 7.5% Abnormality of cholesterol metabolism 2/2 Aplasia/Hypoplasia of the corpus callosum 2/2 Cleft palate 2/2 Alveolar ridge overgrowth 1/2 Ambiguous genitalia, female 1/2 Ambiguous genitalia, male 1/2 Bilateral talipes equinovarus 1/2 Cupped ear 1/2 Epicanthus 1/2 Frontal bossing 1/2 Generalized osteosclerosis 1/2 Gingival fibromatosis 1/2 Hypoplastic nasal bridge 1/2 Joint contracture of the hand 1/2 Low-set ears 1/2 Macrocephaly 1/2 Microcephaly 1/2 Patent ductus arteriosus 1/2 Posteriorly rotated ears 1/2 Rhizomelia 1/2 Total anomalous pulmonary venous return 1/2 Anteverted nares - Autosomal recessive inheritance - Failure to thrive - Partial agenesis of the corpus callosum - Phenotypic variability - Relative macrocephaly - Short nose - Spasticity - 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.
Question: What are the symptoms of COACH syndrome ?

Answer: What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH 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) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Biliary tract abnormality 90% Cognitive impairment 90% Congenital hepatic fibrosis 90% Elevated hepatic transaminases 90% Hepatomegaly 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Chorioretinal coloboma 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hyperreflexia 50% Iris coloboma 50% Long face 50% Narrow forehead 50% Nephropathy 50% Nystagmus 50% Optic nerve coloboma 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the oral cavity 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chronic hepatic failure 7.5% Cirrhosis 7.5% Encephalocele 7.5% Hernia of the abdominal wall 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Multicystic kidney dysplasia 7.5% Neoplasm of the liver 7.5% Oral cleft 7.5% Portal hypertension 7.5% Postaxial hand polydactyly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Splenomegaly 7.5% Strabismus 7.5% Tremor 7.5% Ataxia - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Coloboma - Growth delay - Hepatic fibrosis - Heterogeneous - Hypertelorism - Infantile onset - Intellectual disability, moderate - Molar tooth sign on MRI - Multiple small medullary renal cysts - Nephronophthisis - Occipital encephalocele - Round face - Spasticity - Wide mouth - 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.
Question: What are the symptoms of Chromosome 17q11.2 deletion syndrome ?

Answer: What are the signs and symptoms of Chromosome 17q11.2 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q11.2 deletion 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 chromosome segregation 90% Abnormality of dental enamel 50% Alopecia 50% Cognitive impairment 50% Microcephaly 50% Short stature 50% Long foot 46% Intellectual disability 38% Abnormality of the eyelashes 7.5% Abnormality of the nasal alae 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Deviated nasal septum 7.5% Hypoplasia of the zygomatic bone 7.5% Long face 7.5% Macroorchidism 7.5% Midline defect of the nose 7.5% Neurological speech impairment 7.5% Seizures 7.5% Thin vermilion border 7.5% Axillary freckling 28/29 Cafe-au-lait spot 27/29 Cognitive impairment 27/29 Lisch nodules 27/29 Hypertelorism 25/29 Plexiform neurofibroma 22/29 Subcutaneous neurofibromas 22/29 Joint hypermobility 21/29 Spinal neurofibromas 9/14 Coarse facial features 17/29 Bone cyst 8/16 Delayed speech and language development 14/29 Large hands 13/28 Tall stature 13/28 Focal T2 hyperintense basal ganglia lesion 13/29 Muscular hypotonia 13/29 Specific learning disability 13/29 Scoliosis 12/28 Macrocephaly 9/23 Attention deficit hyperactivity disorder 8/24 Broad neck 9/29 Pectus excavatum 9/29 Abnormality of cardiovascular system morphology 8/28 Facial asymmetry 8/29 Neurofibrosarcoma 6/29 Optic glioma 5/27 Pes cavus 5/29 Low-set ears 4/29 Strabismus 4/29 Hearing impairment 3/29 Seizures 2/29 Autosomal dominant inheritance - Inguinal freckling - Overgrowth - Sporadic - 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.
Question: What are the symptoms of Hereditary hemorrhagic telangiectasia ?

Answer: What are the signs and symptoms of Hereditary hemorrhagic telangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia. 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) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Anemia - Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Brain abscess - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Clubbing - Cyanosis - Dyspnea - Fingerpad telangiectases - Gastrointestinal angiodysplasia - Gastrointestinal arteriovenous malformation - Gastrointestinal telangiectasia - Hematemesis - Hematochezia - Hepatic arteriovenous malformation - Heterogeneous - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Melena - Mesenteric artery aneurysm - Nail bed telangiectasia - Nasal mucosa telangiectasia - Palate telangiectasia - Polycythemia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - 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.
Question: Who is at risk for Osteoporosis? ?

Answer: If you have any of these red flags, you could be at high risk for weak bones. Talk to your doctor, nurse, pharmacist, or other health care professional. Do any of these apply to you? - ____ Im older than 65.  - ____ Ive broken a bone after age 50.  - ____ My close relative has osteoporosis or has broken a bone.   - ____ My health is fair or poor.   - ____ I smoke.   - ____ I am underweight for my height.  - ____ I started menopause before age 45.  - ____ Ive never gotten enough calcium.  - ____ I have more than two drinks of alcohol several times a week.  - ____ I have poor vision, even with glasses.  - ____ I sometimes fall.  - ____ Im not active.  - ____ I have one of these medical conditions:       - Hyperthyroidism    - Chronic lung disease    - Cancer    - Inflammatory bowel disease    - Chronic hepatic or renal disease    - Hyperparathyroidism    - Vitamin D deficiency    - Cushings disease    - Multiple sclerosis    - Rheumatoid arthritis      ____ Im older than 65. ____ Ive broken a bone after age 50. ____ My close relative has osteoporosis or has broken a bone. ____ My health is fair or poor. ____ I smoke. ____ I am underweight for my height. ____ I started menopause before age 45. ____ Ive never gotten enough calcium. ____ I have more than two drinks of alcohol several times a week. ____ I have poor vision, even with glasses. ____ I sometimes fall. ____ Im not active. ____ I have one of these medical conditions:     - Hyperthyroidism   - Chronic lung disease   - Cancer   - Inflammatory bowel disease   - Chronic hepatic or renal disease   - Hyperparathyroidism   - Vitamin D deficiency   - Cushings disease   - Multiple sclerosis   - Rheumatoid arthritis    - Hyperthyroidism  - Chronic lung disease  - Cancer  - Inflammatory bowel disease  - Chronic hepatic or renal disease  - Hyperparathyroidism  - Vitamin D deficiency  - Cushings disease  - Multiple sclerosis  - Rheumatoid arthritis  Hyperthyroidism Chronic lung disease Cancer Inflammatory bowel disease Chronic hepatic or renal disease Hyperparathyroidism Vitamin D deficiency Cushings disease Multiple sclerosis Rheumatoid arthritis - ____ I take one of these medicines:       - Oral glucocorticoids (steroids)     - Cancer treatments (radiation, chemotherapy)    - Thyroid medicine    - Antiepileptic medications    - Gonadal hormone suppression    - Immunosuppressive agents     ____ I take one of these medicines:     - Oral glucocorticoids (steroids)    - Cancer treatments (radiation, chemotherapy)   - Thyroid medicine   - Antiepileptic medications   - Gonadal hormone suppression   - Immunosuppressive agents   - Oral glucocorticoids (steroids)   - Cancer treatments (radiation, chemotherapy)  - Thyroid medicine  - Antiepileptic medications  - Gonadal hormone suppression  - Immunosuppressive agents Oral glucocorticoids (steroids) Cancer treatments (radiation, chemotherapy) Thyroid medicine Antiepileptic medications Gonadal hormone suppression Immunosuppressive agents
Question: What are the symptoms of Floating-Harbor syndrome ?

Answer: 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.