Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Blepharophimosis with ptosis, syndactyly, and short stature ? 
 What are the signs and symptoms of Blepharophimosis with ptosis, syndactyly, and short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis with ptosis, syndactyly, and short stature. 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 cranial nerves 90% Blepharophimosis 90% Highly arched eyebrow 90% Mandibular prognathia 90% Ptosis 90% Strabismus 90% Synophrys 90% Thick eyebrow 90% Short stature 50% Abnormality of the sense of smell 7.5% Cognitive impairment 7.5% Hypertelorism 7.5% Thick lower lip vermilion 7.5% Abnormality of the foot - Anosmia - Autosomal recessive inheritance - Cutaneous finger syndactyly - Esotropia - Frontalis muscle weakness - Intellectual disability, borderline - Weak extraocular muscles - 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.
What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ? 
 What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny 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) Abnormality of the nail - Acanthosis nigricans - Autosomal dominant inheritance - Cranial hyperostosis - Ectodermal dysplasia - Hypodontia - Hypoplastic pilosebaceous units - Hypoplastic sweat glands - Natal tooth - Oligodontia - Relative macrocephaly - Short stature - Slow-growing scalp hair - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - 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 Dehydrated hereditary stomatocytosis ? 
 What are the signs and symptoms of Dehydrated hereditary stomatocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Dehydrated hereditary stomatocytosis. 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) Cholelithiasis 5% Hemoglobinuria 5% Hepatitis 5% Hepatomegaly 5% Increased serum ferritin 5% Jaundice 5% Pallor 5% Splenomegaly 5% Autosomal dominant inheritance - Exercise-induced hemolysis - Increased red cell hemolysis by shear stress - Reticulocytosis - 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 Rienhoff syndrome ? 
 What are the signs and symptoms of Rienhoff syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rienhoff 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) Brachycephaly 5% Broad face 5% Bruising susceptibility 5% Cerebral hemorrhage 5% Cervical spine instability 5% Dolichocephaly 5% Hypoplasia of midface 5% Long face 5% Motor delay 5% Patent foramen ovale 5% Ptosis 5% Smooth philtrum 5% Spondylolisthesis 5% Talipes equinovarus 5% Ventricular septal defect 5% Arachnodactyly - Autosomal dominant inheritance - Bifid uvula - Bilateral coxa valga - Blue sclerae - Cleft palate - Decreased muscle mass - Exotropia - Hiatus hernia - High palate - Hypertelorism - Hyporeflexia - Increased arm span - Inguinal hernia - Joint hypermobility - Kyphoscoliosis - Mitral regurgitation - Pectus carinatum - Pectus excavatum - Pes planus - Proptosis - Retrognathia - Short stature - Small for gestational age - Tall 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.
What are the symptoms of Emery-Dreifuss muscular dystrophy, X-linked ? 
 What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. 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 neck - Achilles tendon contracture - Atrioventricular block - Childhood onset - Decreased cervical spine flexion due to contractures of posterior cervical muscles - Elbow flexion contracture - Elevated serum creatine phosphokinase - Juvenile onset - Pectus excavatum - Primary atrial arrhythmia - Slow progression - Sudden cardiac death - Type 1 muscle fiber atrophy - Waddling gait - 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.
What are the symptoms of Microphthalmia microtia fetal akinesia ? 
 What are the signs and symptoms of Microphthalmia microtia fetal akinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia microtia fetal akinesia. 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 outer ear 90% Aplasia/Hypoplasia affecting the eye 90% Camptodactyly of finger 90% Frontal bossing 90% Limitation of joint mobility 90% Patent ductus arteriosus 90% Short nose 90% Abnormality of the upper urinary tract 50% Duodenal stenosis 50% Hypoplasia of penis 50% Polyhydramnios 50% Symphalangism affecting the phalanges of the hand 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 Methylmalonic acidemia with homocystinuria ? 
 What are the signs and symptoms of Methylmalonic acidemia with homocystinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria. 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 oral cavity 90% Anorexia 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hydrocephalus 90% Megaloblastic anemia 90% Microcephaly 90% Muscular hypotonia 90% Pallor 90% Reduced consciousness/confusion 90% Retinopathy 90% Seizures 90% Behavioral abnormality 50% Gait disturbance 50% Infantile onset 50% Skin rash 7.5% Abnormality of extrapyramidal motor function - Autosomal recessive inheritance - Cerebral cortical atrophy - Confusion - Cystathioninemia - Cystathioninuria - Decreased adenosylcobalamin - Decreased methionine synthase activity - Decreased methylcobalamin - Decreased methylmalonyl-CoA mutase activity - Dementia - Failure to thrive - Hematuria - Hemolytic-uremic syndrome - High forehead - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Intellectual disability - Lethargy - Long face - Low-set ears - Macrotia - Metabolic acidosis - Methylmalonic acidemia - Methylmalonic aciduria - Nephropathy - Neutropenia - Nystagmus - Pigmentary retinopathy - Proteinuria - Reduced visual acuity - Renal insufficiency - Smooth philtrum - Thrombocytopenia - Thromboembolism - Tremor - Visual impairment - 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 Papillon Lefevre syndrome ? 
 What are the signs and symptoms of Papillon Lefevre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillon Lefevre 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 fingernails 90% Gingivitis 90% Palmoplantar keratoderma 90% Periodontitis 90% Premature loss of primary teeth 90% Pustule 90% Reduced number of teeth 90% Cerebral calcification 50% Recurrent respiratory infections 50% Skin ulcer 50% Arachnodactyly 7.5% Hypertrichosis 7.5% Hypopigmented skin patches 7.5% Liver abscess 7.5% Melanoma 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Atrophy of alveolar ridges - Autosomal recessive inheritance - Choroid plexus calcification - Palmoplantar hyperkeratosis - Premature loss of teeth - Severe periodontitis - 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 Cerebral palsy ataxic ? 
 What are the signs and symptoms of Cerebral palsy ataxic? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral palsy ataxic. 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 - Broad-based gait - Cerebellar atrophy - Cerebral palsy - Dysarthria - Dysdiadochokinesis - Horizontal nystagmus - Infantile onset - Motor delay - 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 Bartter syndrome type 3 ? 
 What are the signs and symptoms of Bartter syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome type 3. 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) Hypocalciuria 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Dehydration - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperchloridura - Hypokalemia - Hypokalemic metabolic alkalosis - Hypotension - Impaired reabsorption of chloride - Increased circulating renin level - Increased urinary potassium - Polyuria - Renal potassium wasting - Renal salt wasting - 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 Hydrocephalus obesity hypogonadism ? 
 What are the signs and symptoms of Hydrocephalus obesity hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus obesity hypogonadism. 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% Cryptorchidism 90% Hydrocephalus 90% Hypoplasia of penis 90% Obesity 90% Short stature 90% Respiratory insufficiency 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 is (are) Keratoconus ? 
 Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom is a slight blurring of vision that cannot be corrected with glasses. Over time, there may be eye halos, glare, or other night vision problems.The cause is unknown, but the tendency to develop keratoconus is probably present from birth. Keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea. Some researchers believe that allergy and eye rubbing may play a role. Treatment for keratoconus depends on the severity of your condition and how quickly the condition is progressing. Mild to moderate keratoconus can be treated with eyeglasses or contact lenses. In some people the cornea becomes scarred or wearing contact lenses becomes difficult. In these cases, surgery might be necessary.
What are the symptoms of Keratoconus ? 
 What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. 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) Astigmatism - Autosomal dominant inheritance - Heterogeneous - Keratoconus - Young adult onset - 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.