fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Ulnar-mammary syndrome ?
What are the signs and symptoms of Ulnar-mammary syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar-mammary 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 hair quantity 90% Abnormality of the fingernails 90% Hypohidrosis 90% Split hand 90% Abnormality of female internal genitalia 50% Abnormality of the wrist 50% Aplasia/Hypoplasia of the nipples 50% Cryptorchidism 50% Decreased fertility 50% Hypoplasia of penis 50% Obesity 50% Short stature 50% Abnormality of the humerus 7.5% Abnormality of the metacarpal bones 7.5% Absent hand 7.5% Aplasia of the pectoralis major muscle 7.5% Arrhythmia 7.5% Breast aplasia 7.5% Camptodactyly of finger 7.5% Ectopic anus 7.5% Hernia of the abdominal wall 7.5% Hypoplastic toenails 7.5% Laryngomalacia 7.5% Pectus carinatum 7.5% Postaxial hand polydactyly 7.5% Pyloric stenosis 7.5% Reduced number of teeth 7.5% Renal hypoplasia/aplasia 7.5% Short distal phalanx of finger 7.5% Sprengel anomaly 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Absent radius - Absent ulna - Anal atresia - Anal stenosis - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Axillary apocrine gland hypoplasia - Breast hypoplasia - Deformed radius - Delayed puberty - Ectopic posterior pituitary - Hypodontia - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic nipples - Hypoplastic scapulae - Imperforate hymen - Inguinal hernia - Inverted nipples - Micropenis - Shawl scrotum - Short 4th toe - Short 5th toe - Short clavicles - Short humerus - Sparse axillary hair - Sparse lateral eyebrow - Subglottic stenosis - 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. + GARD + Ulnar-mammary syndrome
What is (are) Asperger syndrome ?
Asperger syndrome (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns. Unlike many people with autism, those with AS retain their early language skills. Features of AS include an obsessive interest in a particular object or topic; high vocabulary; formal speech patterns; repetitive routines or habits; inappropriate social and emotional behavior; impaired non-verbal communication; and uncoordinated motor skills. AS is likely caused by a combination of genetic and environmental influences. While autism spectrum disorders including AS sometimes run in families, no specific inheritance pattern has been recognized. + GARD + Asperger syndrome
Is Asperger syndrome inherited ?
Is Asperger syndrome inherited? Autism spectrum disorders including Asperger syndrome sometimes "run in families," but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition will be affected. A consultation with a genetics professional is recommended for those with specific questions about genetic risks to themselves or family members. + GARD + Asperger syndrome
What is (are) Ovarian carcinosarcoma ?
Ovarian carcinosarcoma is a cancer of the ovary that is composed of two types of cells, namely carcinoma cells and sarcoma cells.  Ovarian carcinosarcoma is also known as a malignant mixed mullerian tumor of the ovary.  The average age of women at the time of diagnosis is 60 to 70 years.  Symptoms may include pain in the abdomen or pelvic area, bloating or swelling of the abdomen, quickly feeling full when eating or other digestive issues.  The cause of ovarian carcinosarcoma is currently unknown.  Treatment usually consists of surgery (sometimes called debulking) and chemotherapy. + GARD + Ovarian carcinosarcoma
What causes Ovarian carcinosarcoma ?
Is there a hereditary cause for ovarian carcinosarcoma? Ovarian carcinosarcoma is not thought to be caused by an inherited gene mutation.  However, one article in the medical literature suggests that an inherited mutation in the BRCA2 gene contributed to the development of ovarian carcinosarcoma in one woman. + GARD + Ovarian carcinosarcoma
What are the treatments for Ovarian carcinosarcoma ?
How might ovarian carcinosarcoma be treated? Because ovarian carcinosarcoma is rare, there are no established treatment guidelines.  Treatment decisions are based on the unique features of each individual's diagnosis.  The National Comprehensive Cancer Network (NCCN), a group of physicians and researchers who strive to improve cancer care, recommends that women with ovarian carcinosarcoma be treated similarly to women with ovarian carcinoma (also called epithelial ovarian cancer), which is the most common type of ovarian cancer. Currently, treatment for ovarian carcinosarcoma usually begins with surgery to remove as much of the cancer as possible.  Chemotherapy may be used to destroy any cancer cells that could be in the body after surgery.  Medications that contain platinum (such as the drug cisplatin) seem to be the most effective chemotherapies for ovarian carcinosarcoma.  Recent evidence suggests that another medication called ifosfamide may increase the effectiveness of treatment when used in combination with platinum-based medications. + GARD + Ovarian carcinosarcoma
What is (are) Chromosome 1p deletion ?
Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. 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 chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. + GARD + Chromosome 1p deletion
What are the symptoms of Groenouw type I corneal dystrophy ?
What are the signs and symptoms of Groenouw type I corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Groenouw type I corneal dystrophy. 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 - Cataract - Granular corneal dystrophy - Nodular corneal dystrophy - Punctate corneal dystrophy - Strabismus - 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. + GARD + Groenouw type I corneal dystrophy
What are the symptoms of Simosa cranio facial syndrome ?
What are the signs and symptoms of Simosa cranio facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Simosa cranio facial 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 antihelix 90% Abnormality of the antitragus 90% Abnormality of the palate 90% Abnormality of the tragus 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the eyebrow 90% Blepharophimosis 90% Broad forehead 90% Chin dimple 90% Downturned corners of mouth 90% High forehead 90% Highly arched eyebrow 90% Hypoplasia of the zygomatic bone 90% Long face 90% Long philtrum 90% Macrotia 90% Malar flattening 90% Narrow mouth 90% Telecanthus 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Cryptorchidism 50% Hernia of the abdominal wall 50% Low-set, posteriorly rotated ears 50% Scoliosis 50% Scrotal hypoplasia 50% Camptodactyly of finger 7.5% Abnormality of the pinna 2/2 Abnormality of the skin 2/2 Blepharophimosis 2/2 Broad forehead 2/2 Depressed nasal tip 2/2 High, narrow palate 2/2 Highly arched eyebrow 2/2 Inguinal hernia 2/2 Long face 2/2 Long nose 2/2 Long philtrum 2/2 Low-set ears 2/2 Malar flattening 2/2 Narrow mouth 2/2 Nasal speech 2/2 Posteriorly rotated ears 2/2 Sparse eyebrow 2/2 Telecanthus 2/2 Underdeveloped nasal alae 2/2 Wide nasal bridge 2/2 Autosomal dominant 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. + GARD + Simosa cranio facial syndrome
What are the symptoms of Gastric lymphoma ?
What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. 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) Gastric lymphoma - 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. + GARD + Gastric lymphoma
What are the symptoms of Macular dystrophy, concentric annular ?
What are the signs and symptoms of Macular dystrophy, concentric annular? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, concentric annular. 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 - Dyschromatopsia - Foveal hyperpigmentation - Macular 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. + GARD + Macular dystrophy, concentric annular
What are the symptoms of Telfer Sugar Jaeger syndrome ?
What are the signs and symptoms of Telfer Sugar Jaeger syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Telfer Sugar Jaeger 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) Cutaneous photosensitivity 90% Hypopigmentation of hair 90% Hypopigmented skin patches 90% Poikiloderma 90% Abnormality of the eyebrow 50% Cognitive impairment 50% Hypermelanotic macule 50% Incoordination 50% Sensorineural hearing impairment 50% Aganglionic megacolon 7.5% Heterochromia iridis 7.5% Neoplasm of the skin 7.5% Absent pigmentation of the ventral chest - Ataxia - Autosomal dominant inheritance - Hearing impairment - Intellectual disability - White forelock - 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. + GARD + Telfer Sugar Jaeger syndrome
What is (are) Spastic diplegia cerebral palsy ?
Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the legs. The arm muscles are generally less affected or not affected at all. Other signs and symptoms may include delayed motor or movement milestones (i.e. rolling over, sitting, standing); walking on toes; and a "scissored" gait (style of walking). It occurs when the portion of the brain that controls movement is damaged or develops abnormally. The exact underlying cause is often unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; and/or injury before, during or shortly after birth. There is no cure, and treatment options vary depending on the signs and symptoms present in each person and the severity of the condition. + GARD + Spastic diplegia cerebral palsy
What are the symptoms of Spastic diplegia cerebral palsy ?
What are the signs and symptoms of spastic diplegia cerebral palsy? The symptoms and severity of spastic diplegia cerebral palsy vary significantly from person to person. It is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to stiff or tight muscles and exaggerated reflexes (spasticity). Other signs and symptoms may include delayed motor or movement milestones (i.e. rolling over, sitting, standing); walking on toes; and a "scissored" gait (style of walking). Although symptoms may change as a person gets older, the condition does not get worse over time (progress). Cerebral palsy, including spastic diplegia cerebral palsy, can be associated with a variety of other health problems, including: Intellectual disability Learning disabilities Seizures Delayed growth Spinal abnormalities Osteoarthritis Impaired vision Hearing loss Speech and language disorders Poor bladder control Contractures + GARD + Spastic diplegia cerebral palsy
What causes Spastic diplegia cerebral palsy ?
What causes spastic diplegia cerebral palsy? Spastic diplegia cerebral palsy occurs when the portion of the brain that controls movement is damaged or develops abnormally. This usually occurs before birth, but can happen at any time while the brain is still developing (usually before age 2). In many cases, the exact underlying cause is unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; injury before, during or shortly after birth; problems with blood flow to the brain; and severe lack of oxygen to the brain. The following medical conditions or events may increase the risk for a child to be born with or develop cerebral palsy: Premature birth Low birth weight (less than 5 and a half pounds) Mothers with infections or high fevers during pregnancy Multiple births (twins, triplets and other multiples) Rh incompatibility (blood type incompatibility between mother and child) Mothers with thyroid abnormalities, intellectual disability, excess protein in the urine, or seizures Breech presentation Complicated labor and delivery Low Apgar score Newborn jaundice + GARD + Spastic diplegia cerebral palsy
Is Spastic diplegia cerebral palsy inherited ?
Is spastic diplegia cerebral palsy inherited? Scientists have found that family members of people with cerebral palsy, including spastic diplegia cerebral palsy, have an increased risk of developing the condition. The exact risk depends on the how closely the family members are related: A child with a sibling (brother, sister) or parent with cerebral palsy would have a six- to nine-fold increased risk of developing the condition (actual risk: 1 to 1.5%) A child with a half sibling with cerebral palsy would have up to a three-fold risk of developing the condition (actual risk: less than 1%) A child with a first cousin with cerebral palsy would have a 1.5-fold increased risk of developing the condition (actual risk: less than 1%) This suggests that there may be a genetic component in some cases of cerebral palsy. However, the inheritance is likely multifactorial which means the condition is caused by multiple genes interacting with each other and with environmental factors. + GARD + Spastic diplegia cerebral palsy
How to diagnose Spastic diplegia cerebral palsy ?
How is spastic diplegia cerebral palsy diagnosed? A diagnosis of spastic diplegia cerebral palsy is based on the presence of characteristic signs and symptoms. However, the following tests may be recommended to rule out other conditions that cause similar features. Blood tests CT scan of the head MRI scan of the head Electroencephalogram (EEG) Electromyography For more information about the diagnosis of spastic diplegia cerebral palsy and other types of cerebral palsy, please click here. + GARD + Spastic diplegia cerebral palsy
What are the treatments for Spastic diplegia cerebral palsy ?
How might spastic diplegia cerebral palsy be treated? Treatment of spastic diplegia cerebral palsy varies based on the signs and symptoms present in each person and the severity of the condition. Affected people are often cared for by a team of healthcare providers who specialize in a variety of different medical fields (i.e. neurologists, rehabilitation physicians, social workers, physical therapists, etc). Orthotic devices (such as a walker, wheelchair or leg braces), physical therapy, and occupational therapy can help improve independent mobility. Certain medications may be prescribed to relax stiff, contracted, or overactive muscles. Orthopedic surgery is often recommended for severely affected people who have symptoms that make walking and moving difficult or painful. For more information on the treatment of spastic diplegia cerebral palsy and other forms of cerebral palsy, please click here. + GARD + Spastic diplegia cerebral palsy
What are the symptoms of Ameloonychohypohidrotic syndrome ?
What are the signs and symptoms of Ameloonychohypohidrotic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ameloonychohypohidrotic 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 dental color 90% Abnormality of dental enamel 90% Abnormality of the fingernails 90% Hyperkeratosis 90% Hypohidrosis 90% Hypoplastic toenails 90% Onycholysis 90% Abnormality of dental morphology 50% Advanced eruption of teeth 50% Delayed eruption of teeth 50% Dry skin 50% Fine hair 50% Reduced number of teeth 50% Abnormality of the hair - Autosomal dominant inheritance - Marked delay in eruption of permanent teeth - Seborrheic dermatitis - 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. + GARD + Ameloonychohypohidrotic syndrome