Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Spondylocarpotarsal synostosis syndrome ? 
 What are the signs and symptoms of Spondylocarpotarsal synostosis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocarpotarsal synostosis 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) Abnormal form of the vertebral bodies 90% Hyperlordosis 90% Limitation of joint mobility 90% Short thorax 90% Synostosis of carpal bones 90% Vertebral segmentation defect 90% Cleft palate 7.5% Conductive hearing impairment 7.5% Pectus excavatum 7.5% Polycystic kidney dysplasia 7.5% Sensorineural hearing impairment 7.5% Abnormality of pelvic girdle bone morphology - Autosomal recessive inheritance - Block vertebrae - Broad face - Broad nasal tip - C2-C3 subluxation - Carpal synostosis - Cataract - Clinodactyly of the 5th finger - Delayed skeletal maturation - Disproportionate short-trunk short stature - Epiphyseal dysplasia - Hypertelorism - Hypoplasia of dental enamel - Hypoplasia of the odontoid process - Mixed hearing impairment - Pes planus - Preauricular skin tag - Rarefaction of retinal pigmentation - Renal cyst - Restrictive lung disease - Scoliosis - Short neck - Short nose - Tarsal synostosis - 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) Neuronal ceroid lipofuscinosis 10 ? 
 Neuronal ceroid lipofuscinosis 10 (CLN10-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
What are the symptoms of Neuronal ceroid lipofuscinosis 10 ? 
 What are the signs and symptoms of Neuronal ceroid lipofuscinosis 10 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 10 . 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) Microcephaly 90% Respiratory insufficiency 90% Seizures 90% Abnormality of metabolism/homeostasis - Apnea - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Congenital onset - Increased neuronal autofluorescent lipopigment - Intellectual disability, progressive - Intellectual disability, severe - Low-set ears - Neuronal loss in central nervous system - Premature closure of fontanelles - Respiratory failure - Retinal atrophy - Rigidity - Rod-cone dystrophy - Sloping forehead - Spasticity - Status epilepticus - Visual loss - 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 is (are) Neuronal ceroid lipofuscinosis 5 ? 
 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
What are the symptoms of Neuronal ceroid lipofuscinosis 5 ? 
 What are the signs and symptoms of Neuronal ceroid lipofuscinosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 5. 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) Cerebellar atrophy 5% Dysarthria 5% Dysdiadochokinesis 5% Dysmetria 5% Nystagmus 5% Abnormal nervous system electrophysiology - Autosomal recessive inheritance - Clumsiness - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Developmental regression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Increased neuronal autofluorescent lipopigment - Intellectual disability - Motor deterioration - Myoclonus - Progressive visual loss - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Retinal degeneration - Seizures - 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 Encephalocraniocutaneous lipomatosis ? 
 What are the signs and symptoms of Encephalocraniocutaneous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalocraniocutaneous lipomatosis. 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) Alopecia 90% Cognitive impairment 90% Multiple lipomas 90% Retinopathy 90% Seizures 90% Abnormality of the tricuspid valve 50% Aplasia/Hypoplasia of the corpus callosum 50% Bone cyst 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Craniofacial hyperostosis 50% Hypertonia 50% Iris coloboma 50% Macrocephaly 50% Neoplasm of the skeletal system 50% Neurological speech impairment 50% Opacification of the corneal stroma 50% Osteolysis 50% Pulmonary hypertension 50% Ventriculomegaly 50% Visceral angiomatosis 50% Abnormality of the aorta 7.5% Hemiplegia/hemiparesis 7.5% Neoplasm of the nervous system 7.5% Skeletal dysplasia 7.5% Abnormality of the anterior chamber - Agenesis of corpus callosum - Arachnoid cyst - Atria septal defect - Cerebellar hypoplasia - Cleft eyelid - Cortical dysplasia - Cryptorchidism - Dandy-Walker malformation - Epibulbar dermoid - Hydrocephalus - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Linear hyperpigmentation - Lipoma - Lipomas of the central neryous system - Microphthalmia - Pelvic kidney - Peripheral pulmonary artery stenosis - Sclerocornea - Subaortic stenosis - Subcutaneous lipoma - 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 Myopathy congenital ? 
 What are the signs and symptoms of Myopathy congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Myopathy congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - Autosomal recessive inheritance - Myopathy - 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 Mitral valve prolapse, familial, X-linked ? 
 What are the signs and symptoms of Mitral valve prolapse, familial, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitral valve prolapse, familial, 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) Autosomal dominant inheritance - Disproportionate tall stature - High palate - Mitral regurgitation - Mitral valve prolapse - Pectus excavatum - Reversed usual vertebral column curves - Striae distensae - 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) Ebstein's anomaly ? 
 Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The  backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe. Treatment depends on the severity of the defect and may include medications, oxygen therapy, or surgery.
What are the symptoms of Ebstein's anomaly ? 
 What are the signs and symptoms of Ebstein's anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ebstein's anomaly. 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 tricuspid valve 90% Atria septal defect 90% Premature birth 90% Respiratory insufficiency 90% Chest pain 50% Patent ductus arteriosus 50% Abnormality of the endocardium 7.5% Arterial thrombosis 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Sudden cardiac death 7.5% Autosomal recessive inheritance - Ebstein's anomaly of the tricuspid valve - Right bundle branch block - Ventricular preexcitation - 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 Marden Walker like syndrome ? 
 What are the signs and symptoms of Marden Walker like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marden Walker like 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 eyebrow 90% Abnormality of the ribs 90% Arachnodactyly 90% Blepharophimosis 90% Camptodactyly of finger 90% Clinodactyly of the 5th finger 90% Convex nasal ridge 90% Depressed nasal bridge 90% Disproportionate tall stature 90% Hallux valgus 90% Hypoplasia of the zygomatic bone 90% Long toe 90% Macrotia 90% Narrow nasal bridge 90% Abnormality of dental morphology 50% Bowing of the long bones 50% Delayed skeletal maturation 50% Elbow dislocation 50% Hypertelorism 50% Limitation of joint mobility 50% Slender long bone 50% Triphalangeal thumb 50% Underdeveloped nasal alae 50% Aplasia/Hypoplasia of the cerebellum 7.5% Cleft palate 7.5% Laryngomalacia 7.5% Talipes 7.5% Sclerocornea 5% Autosomal recessive inheritance - Camptodactyly of toe - Craniosynostosis - Dental crowding - Dislocated radial head - Distal ulnar hypoplasia - Elbow flexion contracture - Femoral bowing - Glenoid fossa hypoplasia - High palate - Hypoplasia of the maxilla - Joint contracture of the hand - Knee flexion contracture - Lateral clavicle hook - Long hallux - Long metacarpals - Malar flattening - Narrow foot - Narrow nose - Pectus excavatum - Protruding ear - Single umbilical artery - Slender metacarpals - Stridor - Talipes equinovarus - Thin ribs - Ulnar bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Lethal chondrodysplasia Moerman type ? 
 What are the signs and symptoms of Lethal chondrodysplasia Moerman type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal chondrodysplasia Moerman 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 epiphysis morphology 90% Abnormality of female internal genitalia 90% Abnormality of the cranial nerves 90% Abnormality of the metaphyses 90% Abnormality of the pulmonary artery 90% Abnormality of the ribs 90% Abnormality of the thumb 90% Aplasia/Hypoplasia of the lungs 90% Blue sclerae 90% Brachydactyly syndrome 90% Cleft palate 90% Dandy-Walker malformation 90% Intestinal malrotation 90% Kyphosis 90% Macrocephaly 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Renal hypoplasia/aplasia 90% Scoliosis 90% Short stature 90% Ventricular septal defect 90% Vertebral segmentation defect 90% 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) Colpocephaly ? 
 Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.
What are the symptoms of Colpocephaly ? 
 What are the symptoms of colpocephaly? Colpocephaly is characterized by a small head circumference and in many cases, intellectual disability. Other signs and symptoms may include movement abnormalities, muscle spasms, and seizures. Poor vision, speech and language difficulties, deafness, and chorioretinitis have been described in individual cases. Cases of people with colpocephaly and normal neurological and motor development have also been described.
What causes Colpocephaly ? 
 What causes colpocephaly? Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic encephalopathy; and maternal drug ingestion during early pregnancy, such as corticosteroids, salbutamol, and theophylline. In addition, a familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an autosomal recessive or X-linked recessive inheritance was suggested in these familial cases.
What are the treatments for Colpocephaly ? 
 How might colpocephaly be treated? There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.
What is (are) Dentinogenesis imperfecta ? 
 Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. This can affect both primary (baby) and permanent teeth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. There are three types of dentinogenesis imperfecta. Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. Type II and type III: usually occur in people without another inherited disorder. Some families with type II also have progressive hearing loss. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder.
What causes Dentinogenesis imperfecta ? 
 What causes dentinogenesis imperfecta? Mutations in the DSPP gene cause dentinogenesis imperfecta. The DSPP gene provides instructions for making three proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II.