Druvith/medqa huggingface dataset:
What are the symptoms of Centronuclear myopathy ? 

What are the signs and symptoms of Centronuclear myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Centronuclear myopathy. 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) EMG abnormality 90% Gait disturbance 90% Muscular hypotonia 90% Skeletal muscle atrophy 90% Arrhythmia 50% Mask-like facies 50% Ophthalmoparesis 50% Ptosis 50% Respiratory insufficiency 50% Scoliosis 50% Seizures 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 Banki syndrome ? 

What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki 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 metacarpal bones 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Synostosis of carpal bones 90% Autosomal dominant inheritance - Clinodactyly - Radial deviation of finger - 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 Limb deficiencies distal with micrognathia ? 

What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. 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 the ankles 90% Abnormality of the metacarpal bones 90% Low-set, posteriorly rotated ears 90% Split foot 90% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Conductive hearing impairment 50% Cryptorchidism 50% Myopia 50% Narrow mouth 50% Proteinuria 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Abnormality of the ulna 7.5% Aplasia/Hypoplasia of the tongue 7.5% Cleft palate 7.5% Macrocephaly 7.5% Microdontia 7.5% Nystagmus 7.5% Prominent nasal bridge 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Tarsal synostosis 7.5% Hypoplasia of the maxilla 5% Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Camptodactyly - High palate - Intellectual disability - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Split hand - 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 X-linked lissencephaly with abnormal genitalia ? 

What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. 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 neuronal migration 90% Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Cryptorchidism 90% Hypoplasia of penis 90% Microcephaly 90% Seizures 90% Hypohidrosis 50% Malabsorption 50% Muscular hypotonia 50% Ventriculomegaly 50% Aganglionic megacolon 7.5% Exocrine pancreatic insufficiency 7.5% Frontal bossing 7.5% Hypertonia 7.5% Patent ductus arteriosus 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Decreased testicular size - Diarrhea - Duane anomaly - Feeding difficulties in infancy - Gliosis - High forehead - High palate - Hyperreflexia - Lissencephaly - Long philtrum - Long upper lip - Low-set ears - Micropenis - Pachygyria - Prominent nasal bridge - Severe global developmental delay - Spasticity - Specific learning disability - Wide anterior fontanel - Wide nasal bridge - X-linked 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 is (are) Marfan syndrome ? 

Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new mutation. Treatment is symptomatic and supportive.
Is Marfan syndrome inherited ? 

How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual. Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.
What are the symptoms of Paris-Trousseau thrombocytopenia ? 

What are the signs and symptoms of Paris-Trousseau thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Paris-Trousseau thrombocytopenia. 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 cardiovascular system 50% Cognitive impairment 50% Abnormal bleeding - Clinodactyly - Intellectual disability - Prolonged bleeding time - Ptosis - Pyloric stenosis - Radial deviation of finger - Sporadic - Thrombocytopenia - Trigonocephaly - 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 Mental retardation-hypotonic facies syndrome X-linked, 1 ? 

What are the signs and symptoms of Mental retardation-hypotonic facies syndrome X-linked, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation-hypotonic facies syndrome X-linked, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - 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 MORM syndrome ? 

What are the signs and symptoms of MORM syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for MORM 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) Autosomal recessive inheritance - Cataract - Childhood-onset truncal obesity - Delayed speech and language development - Intellectual disability, moderate - Micropenis - Retinal dystrophy - Truncal obesity - 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 Aplasia cutis congenita intestinal lymphangiectasia ? 

What are the signs and symptoms of Aplasia cutis congenita intestinal lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita intestinal lymphangiectasia. 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% Lymphedema 90% Single transverse palmar crease 90% Skull defect 90% Clinodactyly of the 5th finger 50% Decreased antibody level in blood 50% Hypoproteinemia 50% Lymphopenia 50% Malabsorption 50% Abnormality of coagulation 7.5% Chorioretinal coloboma 7.5% Myopia 7.5% Abnormal bleeding - Abnormality of the paranasal sinuses - Aplasia cutis congenita over the scalp vertex - Autosomal recessive inheritance - Generalized edema - Intestinal lymphangiectasia - 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 Pseudodiastrophic dysplasia ? 

What are the signs and symptoms of Pseudodiastrophic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudodiastrophic 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 form of the vertebral bodies 90% Elbow dislocation 90% Hypoplasia of the zygomatic bone 90% Scoliosis 90% Omphalocele 7.5% Autosomal recessive inheritance - Fever - Hypoplasia of midface - Hypoplasia of the odontoid process - Lumbar hyperlordosis - Malar flattening - Phalangeal dislocation - Platyspondyly - Rhizomelia - Severe short stature - Talipes equinovarus - Tongue-like lumbar vertebral deformities - 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 Reardon Wilson Cavanagh syndrome ? 

What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh 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) Cognitive impairment 90% Incoordination 90% Nystagmus 90% Sensorineural hearing impairment 90% Strabismus 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the cerebellum 50% Cerebral cortical atrophy 50% Decreased nerve conduction velocity 50% EMG abnormality 50% Muscular hypotonia 50% Neurological speech impairment 50% Scoliosis 50% Skeletal muscle atrophy 50% Ventriculomegaly 50% Joint hypermobility 7.5% Ataxia - Autosomal recessive inheritance - Intellectual disability - Progressive sensorineural hearing 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 Patterned dystrophy of retinal pigment epithelium ? 

What are the signs and symptoms of Patterned dystrophy of retinal pigment epithelium? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterned dystrophy of retinal pigment epithelium. 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) Metamorphopsia 5% Nyctalopia 5% Photophobia 5% Autosomal dominant inheritance - Macular dystrophy - Reticular retinal dystrophy - 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 Jensen syndrome ? 

What are the signs and symptoms of Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen 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) Blindness - Cerebral calcification - Dementia - Generalized amyotrophy - Infantile sensorineural hearing impairment - Optic atrophy - X-linked 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.