Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Leber congenital amaurosis 1 ? 
 What are the signs and symptoms of Leber congenital amaurosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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) Autosomal recessive inheritance - Blindness - Cataract - Decreased light- and dark-adapted electroretinogram amplitude - Eye poking - Fundus atrophy - Growth delay - Hepatomegaly - Hyperthreoninemia - Hyperthreoninuria - Intellectual disability - Keratoconus - Nystagmus - Photophobia - Pigmentary retinopathy - Reduced visual acuity - 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 Prekallikrein deficiency, congenital ? 
 What are the signs and symptoms of Prekallikrein deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Prekallikrein deficiency, 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) Autosomal recessive inheritance - Prolonged partial thromboplastin time - 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) Noonan syndrome 4 ? 
 Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
What are the symptoms of Noonan syndrome 4 ? 
 What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 4. 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) Prolonged bleeding time 5% Autosomal dominant inheritance - Blue irides - Cryptorchidism - Cubitus valgus - Curly hair - Dental malocclusion - Depressed nasal bridge - Epicanthus - High anterior hairline - Hypertelorism - Hypertrophic cardiomyopathy - Low-set, posteriorly rotated ears - Macrocephaly - Pectus excavatum of inferior sternum - Ptosis - Pulmonic stenosis - Scoliosis - Short neck - Short stature - Sparse eyebrow - Thick lower lip vermilion - Ventricular septal defect - Webbed neck - Wide intermamillary distance - 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 Noonan syndrome 4 ? 
 How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
What is (are) Distal chromosome 18q deletion syndrome ? 
 Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with distal chromosome 18q deletion syndrome include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about distal 18q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
What are the symptoms of Distal chromosome 18q deletion syndrome ? 
 What are the signs and symptoms of Distal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal chromosome 18q deletion 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) Absence of the pulmonary valve - Aortic valve stenosis - Asthma - Atopic dermatitis - Atresia of the external auditory canal - Atria septal defect - Autosomal dominant inheritance - Bifid uvula - Blepharophimosis - Broad-based gait - Cerebellar hypoplasia - Choanal stenosis - Chorea - Cleft palate - Cleft upper lip - Conductive hearing impairment - Congestive heart failure - Cryptorchidism - Delayed CNS myelination - Depressed nasal bridge - Dilatation of the ascending aorta - Downturned corners of mouth - Dysplastic aortic valve - Dysplastic pulmonary valve - Epicanthus - Failure to thrive in infancy - Flat midface - Growth hormone deficiency - Hypertelorism - Hypoplasia of midface - Hypospadias - Inguinal hernia - Intellectual disability - Joint laxity - Low anterior hairline - Macrotia - Malar flattening - Mandibular prognathia - Microcephaly - Micropenis - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Overlapping toe - Patent ductus arteriosus - Pes cavus - Pes planus - Phenotypic variability - Poor coordination - Prominent nose - Proximal placement of thumb - Recurrent respiratory infections - Rocker bottom foot - Scoliosis - Secretory IgA deficiency - Seizures - Sensorineural hearing impairment - Short neck - Short palpebral fissure - Short philtrum - Short stature - Sporadic - Stenosis of the external auditory canal - Strabismus - Talipes equinovarus - Tapetoretinal degeneration - Toe syndactyly - Tremor - Umbilical hernia - U-Shaped upper lip vermilion - Ventricular septal defect - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? 
 Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids.  People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus).  Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited.  Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF).  This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern.
What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? 
 What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 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) Blepharophimosis 90% Depressed nasal bridge 90% Epicanthus 90% Ptosis 90% Decreased fertility 50% Lacrimation abnormality 50% Myopia 50% Nystagmus 7.5% Strabismus 7.5% Synophrys 7.5% Abnormality of the breast - Abnormality of the hair - Amenorrhea - Autosomal dominant inheritance - Cupped ear - Epicanthus inversus - Female infertility - High palate - Hypermetropia - Increased circulating gonadotropin level - Microcornea - Microphthalmia - Premature ovarian failure - Telecanthus - 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.
Is Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 inherited ? 
 If my daughter inherits BPES from me, will she definitely have the same type as me, or could she have the other type? More than 130 mutations (changes) in the FOXL2 gene have been found to cause BPES. It has been reported that mutations that lead to a significantly shortened FOXL2 protein often cause BPES type I (characterized by eyelid malformations and premature ovarian failure (POF)), while mutations that result in an extra long FOXL2 protein may cause BPES type II (which involves only eyelid malformations). However, in a study published in 2003 in the American Journal of Human Genetics, the authors discussed how their study was the first to demonstrate intra- and interfamilial phenotypic variability (i.e. both BPES types caused by the same mutation). They discuss how assigning an affected family a diagnosis of either BPES type I or II is not always possible because of this. The article also discusses a previous report of menstrual abnormalities and reduced female fertility in two families with BPES type II, suggesting overlap between both BPES types, as well as a report of a family with BPES type I in which the first generations of affected females are infertile while three affected young women in the youngest generation appear to have normal pelvic ultrasound and hormone levels. They do caution that in this family, the early age of the affected women may preclude an accurate prediction of whether they will have POF, since the onset of POF usually occurs at a later age. Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation; the cause of the condition in these people is unknown, and therefore there is no information on whether there may be variation within families for these affected individuals.
What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? 
 How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery should be discussed with an oculoplastic surgeon to decide on the method and timing that is best suited for the patient. Traditionally, surgical correction of the blepharophimosis, epicanthus inversus, and telecanthus (canthoplasty) is performed at ages three to five years, followed about a year later by ptosis correction (usually requiring a brow suspension procedure). If the epicanthal folds are small, a "Y-V canthoplasty" is traditionally used; if the epicanthal folds are severe, a "double Z-plasty" is used. Unpublished reports have indicated that advanced understanding of the lower eyelid position has allowed for more targeted surgery that results in a more natural appearance.   For a general explanation of these procedures and to locate an eye-care professional visit the Foundation of the American Academy of Ophthalmology and the National Eye Institute websites. To locate a surgeon through the American Society of Ophthalmic Plastic & Reconstructive Surgery click here. Generally, premature ovarian failure (POF) is treated with hormone replacement therapy. There is no specific treatment for POF caused by blepharophimosis syndrome type 1. Hormone replacement therapy is generally estrogen and progesterone and sometimes also includes testosterone. Birth control pills are sometimes substituted for hormone replacement therapy. Although health care providers can suggest treatments for some of the symptoms of POF, currently there is no scientifically established treatment to restore fertility for women diagnosed with POF. Women with POF are encouraged to speak to a health care professional. If you wish to obtain more information and support, you can visit the International Premature Ovarian Failure Association.
What is (are) Oculofaciocardiodental syndrome ? 
 Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.
What are the symptoms of Diffuse cutaneous mastocytosis ? 
 What are the signs and symptoms of Diffuse cutaneous mastocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous mastocytosis. 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 blistering of the skin 90% Mastocytosis 90% Abnormality of skin pigmentation 50% Hypotension 50% Impaired temperature sensation 50% Pruritus 50% Subcutaneous hemorrhage 50% Thickened skin 50% Urticaria 50% Gastrointestinal hemorrhage 7.5% Hepatomegaly 7.5% Immunologic hypersensitivity 7.5% Leukemia 7.5% Malabsorption 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 is (are) Adult neuronal ceroid lipofuscinosis ? 
 Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms: Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy); dementia; difficulties with muscle coordination (ataxia); involuntary movements such as tremors or tics; and dysarthria. It is caused by changes (mutations) in the CLN6 or PPT1 gene and is inherited in an autosomal recessive manner. Type B shares many features with type A; however, affected people also experience behavioral abnormalities and do not develop myoclonic epilepsy or dysarthria. It can be caused by mutations in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms.
What are the symptoms of Adult neuronal ceroid lipofuscinosis ? 
 What are the signs and symptoms of Adult neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult neuronal ceroid lipofuscinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pyramidal signs 90% Abnormality of extrapyramidal motor function 90% Behavioral abnormality 90% Developmental regression 90% Incoordination 90% Involuntary movements 90% Seizures 90% Retinopathy 7.5% Visual impairment 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.