Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Baraitser Brett Piesowicz syndrome ? 
 What are the signs and symptoms of Baraitser Brett Piesowicz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser Brett Piesowicz 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) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - 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.
What is (are) Frontotemporal dementia ? 
 Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e.g., difficulty making or understanding speech). Spatial skills and memory remain intact. There is a strong genetic component to the disease; it often runs in families. There is no cure for frontotemporal dementia at this time, as a result treatment remains supportive. Although the name and classification of FTD has been a topic of discussion for over a century, the current classification of the syndrome groups together Picks disease, primary progressive aphasia, and semantic dementia as FTD. Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex. You can click on the links to view the GARD pages on these conditions.
What are the symptoms of Frontotemporal dementia ? 
 What are the signs and symptoms of Frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia. 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) Amyotrophic lateral sclerosis - Apathy - Autosomal dominant inheritance - Disinhibition - Frontal lobe dementia - Frontotemporal dementia - Hyperorality - Inappropriate laughter - Inappropriate sexual behavior - Irritability - Language impairment - Neuronal loss in central nervous system - Parkinsonism - Personality changes - Polyphagia - Primitive reflexes (palmomental, snout, glabellar) - 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.
What are the symptoms of Dyskeratosis congenita autosomal dominant ? 
 What are the signs and symptoms of Dyskeratosis congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal dominant. 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 neutrophils 90% Abnormality of the fingernails 90% Anemia 90% Hypermelanotic macule 90% Thrombocytopenia 90% Abnormality of coagulation 50% Abnormality of female internal genitalia 50% Abnormality of the pharynx 50% Abnormality of the testis 50% Anonychia 50% Aplasia/Hypoplasia of the skin 50% Aplastic/hypoplastic toenail 50% Bone marrow hypocellularity 50% Carious teeth 50% Cellular immunodeficiency 50% Cognitive impairment 50% Hyperhidrosis 50% Hypopigmented skin patches 50% Intrauterine growth retardation 50% Malabsorption 50% Palmoplantar keratoderma 50% Recurrent fractures 50% Recurrent respiratory infections 50% Rough bone trabeculation 50% Short stature 50% Skin ulcer 50% Telangiectasia of the skin 50% Tracheoesophageal fistula 50% Abnormal blistering of the skin 7.5% Abnormality of the eyebrow 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Cataract 7.5% Cerebral calcification 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hepatomegaly 7.5% Hypopigmentation of hair 7.5% Inflammatory abnormality of the eye 7.5% Lymphoma 7.5% Neoplasm of the pancreas 7.5% Premature graying of hair 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Splenomegaly 7.5% Aplastic anemia - Ataxia - Autosomal dominant inheritance - Cerebellar hypoplasia - Dermal atrophy - Interstitial pneumonitis - Lymphopenia - Myelodysplasia - Nail dystrophy - Nail pits - Oral leukoplakia - Osteoporosis - Phenotypic variability - Premature loss of teeth - Pulmonary fibrosis - Reticular hyperpigmentation - Ridged nail - Sparse hair - Specific learning disability - Squamous cell carcinoma of the skin - 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.
What is (are) Collagenous colitis ? 
 Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed from colonoscopy or sigmoidoscopy. Signs and symptoms may be ongoing or intermittent and may include chronic, watery, non-bloody diarrhea and abdominal pain or cramps. The exact underlying cause is unknown but may relate to a bacteria, a virus, an autoimmune response, and/or a genetic predisposition. Treatment for collagenous colitis varies depending on the symptoms and severity in each individual. In some cases, the condition resolves on its own.
What are the symptoms of Collagenous colitis ? 
 What are the signs and symptoms of collagenous colitis? All individuals with collagenous colitis experience chronic, watery, non-bloody diarrhea which is what typically prompts individuals to seek medical attention. Onset of diarrhea may occur gradually over time or may be sudden and abrupt. Episodes of diarrhea may be intermittent and can occur over weeks, months or years. Other signs and symptoms that commonly occur in affected individuals include abdominal pain or cramping; flatulence; bloating; and weight loss. Incontinence, urgency, nausea, vomiting and fatigue have also been reported. Some individuals with collagenous colitis experience spontaneous remission even without treatment; however, relapses can occur.
What are the treatments for Collagenous colitis ? 
 How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. Dietary changes are usually tried first to alleviate symptoms. These changes may include a reduced-fat diet, eliminating foods that contain caffeine and lactose, and avoiding over-the-counter pain relievers such as ibuprofen or aspirin. If these changes alone are not enough, medications can be used to help control symptoms. However, the response rate to various types of medication reportedly varies. Prescription anti-inflammatory medications such as mesalamine and sulfasalazine may help reduce swelling. Steroids including budesonide and prednisone can be used reduce inflammation, but they are usually only used to control sudden attacks of diarrhea. Long-term use of steroids is typically avoided because of unwanted side effects. Anti-diarrheal medications such as bismuth subsalicylate, diphenoxylate with atropine, and loperamide can offer short-term relief. Immunosuppressive agents such as azathioprine help to reduce inflammation but are rarely needed. In extreme cases where the condition does not respond to medications, surgery to remove all or part of the colon may be necessary. However, surgery is rarely recommended.
What are the symptoms of Spinocerebellar ataxia 12 ? 
 What are the signs and symptoms of Spinocerebellar ataxia 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 12. 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 eye movement - Action tremor - Anxiety - Autosomal dominant inheritance - Axial dystonia - Cerebellar atrophy - Cerebral cortical atrophy - Delusions - Dementia - Depression - Dysarthria - Dysdiadochokinesis - Dysmetria - Facial myokymia - Head tremor - Hyperreflexia - Parkinsonism - Progressive cerebellar ataxia - Sensorimotor neuropathy - 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.
What is (are) Hypersensitivity vasculitis ? 
 Hypersensitivity vasculitis is an extreme reaction to a drug, infection, or foreign substance that leads to inflammation and damage to blood vessels of the skin. Signs and symptoms may include purple-colored spots and patches on the skin; skin lesions on the legs, buttocks, or trunk; blisters on the skin; hives (urticaria); and/or open sores with dead tissue (necrotic ulcers). This condition is caused by an allergic reaction to a drug or other foreign substance. This condition usually goes away over time; but on occasion, people can have repeated episodes.
What are the symptoms of Hypersensitivity vasculitis ? 
 What are the signs and symptoms of Hypersensitivity vasculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypersensitivity vasculitis. 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 temperature regulation 90% Cutis marmorata 90% Gangrene 90% Myalgia 90% Skin ulcer 90% Subcutaneous hemorrhage 90% Urticaria 90% Vasculitis 90% Arthralgia 50% Skin rash 50% Abnormality of the oral cavity 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.
What are the symptoms of Spinocerebellar ataxia 20 ? 
 What are the signs and symptoms of Spinocerebellar ataxia 20? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 20. 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 pyramidal signs - Adult onset - Autosomal dominant inheritance - Dysarthria - Dysphonia - Gait ataxia - High pitched voice - Hypermetric saccades - Limb ataxia - Nystagmus - Palatal myoclonus - Postural tremor - Slow progression - 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.
What are the symptoms of Facial ectodermal dysplasia ? 
 What are the signs and symptoms of Facial ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Facial ectodermal dysplasia. 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 hair quantity 90% Aplasia/Hypoplasia of the skin 90% Chin dimple 90% Depressed nasal ridge 90% Downturned corners of mouth 90% Prematurely aged appearance 90% Sacrococcygeal pilonidal abnormality 90% Abnormality of the eyelashes 50% Abnormality of the upper urinary tract 50% Epicanthus 50% Highly arched eyebrow 50% Short philtrum 50% Sparse lateral eyebrow 50% Urogenital fistula 50% Cafe-au-lait spot 7.5% Hypopigmented skin patches 7.5% Lacrimation abnormality 7.5% Strabismus 7.5% Absent eyelashes - Aged leonine appearance - Anal atresia - Autosomal recessive inheritance - Bulbous nose - Depressed nasal bridge - Ectodermal dysplasia - Multiple rows of eyelashes - Periorbital fullness - 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.
What are the symptoms of Renal dysplasia megalocystis sirenomelia ? 
 What are the signs and symptoms of Renal dysplasia megalocystis sirenomelia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia megalocystis sirenomelia. 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 urethra 50% Aplasia/Hypoplasia of the sacrum 50% Multicystic kidney dysplasia 50% Renal hypoplasia/aplasia 50% Sirenomelia 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.
What are the symptoms of Fuhrmann syndrome ? 
 What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann 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 fibula 90% Adactyly 90% Aplasia/Hypoplasia of the fibula 90% Aplasia/Hypoplasia of the ulna 90% Femoral bowing 90% Hypoplasia of the radius 90% Radial bowing 90% Short stature 90% Talipes 90% Tarsal synostosis 90% Aplasia/Hypoplasia of the 5th finger 75% Aplasia/hypoplasia of the femur 75% Congenital hip dislocation 75% Hypoplastic iliac wing 75% Hypoplastic pelvis 75% Oligodactyly (feet) 75% Patellar aplasia 75% Abnormal finger flexion creases 50% Abnormality of the femur 50% Abnormality of the fingernails 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Anonychia 50% Bowing of the long bones 50% Clinodactyly of the 5th finger 50% Hypoplastic toenails 50% Postaxial hand polydactyly 50% Sacrococcygeal pilonidal abnormality 50% Single transverse palmar crease 50% Symphalangism affecting the phalanges of the hand 50% Ulnar deviation of finger 50% Aplasia/Hypoplasia involving the metacarpal bones 33% Aplasia/Hypoplasia of metatarsal bones 33% Oligodactyly (hands) 33% Talipes equinovarus 33% Toe syndactyly 33% Finger syndactyly 7.5% Low-set, posteriorly rotated ears 7.5% Macrotia 7.5% Short distal phalanx of finger 7.5% Split hand 7.5% Absent toenail - Amenorrhea - Aplasia/Hypoplasia of the phalanges of the hand - Autosomal recessive inheritance - Fibular aplasia - 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.