Druvith/transformed_medDataset huggingface dataset:
Is Punctate palmoplantar keratoderma type I inherited ? 
 How is punctate palmoplantar keratoderma type I inherited? Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient for a person to be affected. An autosomal dominant condition may occur for the first time in an affected individual due to a new mutation, or may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that his/her child will inherit the condition. Keratosis palmoplantaris papulosa shows age dependent penetrance and possibly variable penetrance as well. Age dependant penetrance means that the older the person is, the more likely they are to develop symptoms if they have inherited the disease causing gene mutation. Variable penetrance means that not everyone who inherits the gene mutation that causes keratosis palmoplantaris papulosa develops the signs and symptoms of the condition. However this person would still be at risk of passing the disease-causing mutation to their offspring.
How to diagnose Punctate palmoplantar keratoderma type I ? 
 How is punctate palmoplantar keratoderma type I diagnosed? Features that support the diagnosis of punctate palmoplantar keratoderma type I include a positive family history (i.e., other affected family members), the presence of multiple tiny hard rounded bumps of thickened skin on the hands and feet, and certain cell histology (i.e., appearance of skin samples when viewed under a microscope).
What are the treatments for Punctate palmoplantar keratoderma type I ? 
 How might punctate palmoplantar keratoderma type 1 be treated? Treatment options for this condition generally include topical salicylic acid, mechanical debridement, excision, and systemic retinoids. These therapies can lead to a temporary decrease in skin thickness and softening of the skin. Unfortunately, in many cases, medical and surgical treatment for punctate keratodermas do not provide consistent or long-lasting results. In general, there has been some reported success using keratolytics such as corticosteroids, urea, salicylic acid, lactic acid, or Vitamin A. Systemic therapy using vitamin D analogues, aromatic retinoids, and 5-fluorouracil has also been used. However, individuals with successful resolution of lesions often relapse unless they are maintained on chronic low-dose therapy. These topical and systemic treatments carry a variety of side effects. Surgery (including excision and skin grafting) for punctate keratodermas has been used on lesions resistant to medical treatment, but healing after surgical treatment can be difficult. CO2 laser ablation has also been attempted and reportedly produces good results for limited areas of hyperkeratosis of the palms.
What is (are) 2q37 deletion syndrome ? 
 2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.
What causes 2q37 deletion syndrome ? 
 What causes 2q37 deletion syndrome? 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probably related to the loss of multiple genes in this region.
Is 2q37 deletion syndrome inherited ? 
 How is 2q37 deletion syndrome inherited? Can it be a hidden trait? Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.
What is (are) Preauricular sinus ? 
 Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides (bilateral) of the ear. Affected people usually do not have any additional symptoms unless it becomes infected. Preauricular sinus may occur sporadically during the development of an embryo or it may be inherited in an autosomal dominant manner with reduced penetrance. Less often, it occurs as a feature of another condition or syndrome. Treatment may include antibiotics for infection and/or surgery to remove the sinus.
What are the symptoms of Preauricular sinus ? 
 What are the signs and symptoms of Preauricular sinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Preauricular sinus. 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 - Preauricular pit - 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 treatments for Preauricular sinus ? 
 How might a preauricular sinus be treated? The majority of preauricular sinuses do not cause symptoms or problems unless they become infected. Common signs of infection include swelling, redness, fluid drainage, and pain. In these cases, treatment typically includes systemic antibiotics. If an abscess is present, it will likely need to be incised and drained. There are differing opinions in the medical literature about the indications for surgical removal of preauricular sinuses. Some believe that even asymptomatic sinuses should be removed. Others believe that surgery is indicated if infection or other complications arise.
What are the symptoms of Radial ray hypoplasia choanal atresia ? 
 What are the signs and symptoms of Radial ray hypoplasia choanal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial ray hypoplasia choanal atresia. 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% Aplasia/Hypoplasia of the thumb 90% Depressed nasal bridge 90% Strabismus 90% Triphalangeal thumb 90% Abnormality of the skin 50% Abnormality of the wrist 50% Brachydactyly syndrome 50% Choanal atresia 50% Autosomal dominant inheritance - Choanal stenosis - Distally placed thumb - Esotropia - Hypoplasia of the radius - Short thumb - Small thenar eminence - 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 Cataract microcornea syndrome ? 
 What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea 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) Cataract 90% Microcornea 90% Myopia 50% Corneal dystrophy 7.5% Iris coloboma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 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 Intellectual disability - athetosis - microphthalmia ? 
 What are the signs and symptoms of Intellectual disability - athetosis - microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability - athetosis - microphthalmia. 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 movement 90% Abnormality of thumb phalanx 90% Broad forehead 90% Chin dimple 90% Cognitive impairment 90% Facial cleft 90% Frontal bossing 90% Hypertelorism 90% Hypertonia 90% Hypoplasia of the ear cartilage 90% Large earlobe 90% Malar flattening 90% Microcephaly 90% Reduced number of teeth 90% Scoliosis 90% Single transverse palmar crease 90% Supernumerary nipple 90% Telecanthus 90% Abnormality of the palate 50% Abnormality of the thorax 50% Aplasia/Hypoplasia affecting the eye 50% Blue sclerae 50% Camptodactyly of finger 50% Facial asymmetry 50% Iris coloboma 50% Lip pit 50% Mandibular prognathia 50% Preauricular skin tag 50% Seizures 50% Strabismus 50% Tapered finger 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 Loeys-Dietz syndrome type 2 ? 
 What are the signs and symptoms of Loeys-Dietz syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 2. 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) Absent distal phalanges 5% Arnold-Chiari malformation 5% Atria septal defect 5% Bicuspid aortic valve 5% Bicuspid pulmonary valve 5% Cerebral aneurysm 5% Cleft palate 5% Craniosynostosis 5% Descending aortic aneurysm 5% Disproportionate tall stature 5% Hydrocephalus 5% Inguinal hernia 5% Intellectual disability 5% Mitral valve prolapse 5% Osteoporosis 5% Postaxial polydactyly 5% Syndactyly 5% Umbilical hernia 5% Abnormality of the sternum - Arachnodactyly - Ascending aortic aneurysm - Ascending aortic dissection - Autosomal dominant inheritance - Bifid uvula - Blue sclerae - Brachydactyly syndrome - Camptodactyly - Dermal translucency - Exotropia - Generalized arterial tortuosity - Hypertelorism - Joint contracture of the hand - Joint laxity - Malar flattening - Patent ductus arteriosus - Proptosis - Pulmonary artery aneurysm - Retrognathia - Scoliosis - Talipes equinovarus - 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 Pulmonary venous return anomaly ? 
 What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return 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 cardiac septa 90% Anomalous pulmonary venous return 90% Respiratory insufficiency 7.5% Tapered distal phalanges of finger 5% Aplasia/Hypoplasia of the nails - Autosomal dominant inheritance - Pulmonary hypertension - Recurrent respiratory infections - Total anomalous pulmonary venous return - 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 Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ? 
 What are the signs and symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin. 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 - Generalized ichthyosis - Intellectual disability - 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 Platyspondylic lethal skeletal dysplasia Torrance type ? 
 What are the signs and symptoms of Platyspondylic lethal skeletal dysplasia Torrance type? The Human Phenotype Ontology provides the following list of signs and symptoms for Platyspondylic lethal skeletal dysplasia Torrance 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 pelvic girdle bone morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short distal phalanx of finger 90% Short stature 90% Short thorax 90% Short toe 90% Aplasia/Hypoplasia of the lungs 50% Depressed nasal bridge 50% Genu varum 50% Hydrops fetalis 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Polyhydramnios 50% Sprengel anomaly 50% Cleft palate 7.5% Abnormality of the abdominal wall - Autosomal dominant inheritance - Coarse facial features - Decreased cranial base ossification - Disc-like vertebral bodies - Flat acetabular roof - Hypoplastic ilia - Hypoplastic ischia - Hypoplastic pubic bone - Lethal skeletal dysplasia - Macrocephaly - Metaphyseal cupping - Neonatal short-limb short stature - Protuberant abdomen - Severe limb shortening - Severe platyspondyly - Short long bone - Short neck - Short ribs - Thin ribs - 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 Dykes Markes Harper syndrome ? 
 What are the signs and symptoms of Dykes Markes Harper syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dykes Markes Harper 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) Developmental regression 90% Gait disturbance 90% Hepatomegaly 90% Ichthyosis 90% Incoordination 90% Neurological speech impairment 90% Splenomegaly 90% Ataxia - Autosomal recessive inheritance - Dysarthria - Hepatosplenomegaly - 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) Mosaic trisomy 8 ? 
 Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the absence of serious problems, life expectancy is normal. Complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Mosaic trisomy 8 is the result of a random error in the egg or sperm. Diagnosis is based on karyotype analysis. Mosaic trisomy 8 almost always occurs in individuals with no family history of the condition.