fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Idiopathic thrombocytopenic purpura ?
What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. 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 bleeding - Autosomal dominant inheritance - Platelet antibody positive - Thrombocytopenia - 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 + Idiopathic thrombocytopenic purpura
What are the symptoms of Wiedemann Oldigs Oppermann syndrome ?
What are the signs and symptoms of Wiedemann Oldigs Oppermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann Oldigs Oppermann 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 nasal morphology 90% Abnormality of calvarial morphology 90% Abnormality of the clavicle 90% Abnormality of the elbow 90% Abnormality of the fingernails 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Aplasia/Hypoplasia of the earlobes 90% Astigmatism 90% Cognitive impairment 90% Epicanthus 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Hyperuricemia 90% Long thorax 90% Narrow chest 90% Pectus carinatum 90% Proptosis 90% Proximal placement of thumb 90% Strabismus 90% Tracheal stenosis 90% Wide nasal bridge 90% Wormian bones 90% Autosomal dominant inheritance - Brachycephaly - Coxa valga - Down-sloping shoulders - Hirsutism - Intellectual disability - Long neck - Pes cavus - Skeletal dysplasia - 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 + Wiedemann Oldigs Oppermann syndrome
What are the symptoms of Spastic paraplegia 16 ?
What are the signs and symptoms of Spastic paraplegia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 16. 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) Babinski sign - Facial hypotonia - Hyperreflexia - Hypoplasia of the maxilla - Intellectual disability - Juvenile onset - Low frustration tolerance - Lower limb amyotrophy - Lower limb muscle weakness - Mood swings - Motor aphasia - Restlessness - Short distal phalanx of finger - Shuffling gait - Spastic paraplegia - Strabismus - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Visual impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Spastic paraplegia 16
What is (are) Actinomycosis ?
Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious. + GARD + Actinomycosis
What are the symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17 ?
What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. 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 - High-frequency hearing impairment - Juvenile onset - 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 + Deafness, autosomal dominant nonsyndromic sensorineural 17
What are the symptoms of Pseudoprogeria syndrome ?
What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria 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 eyelashes 90% Abnormality of the teeth 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Convex nasal ridge 90% Freckling 90% Gait disturbance 90% Hypertonia 90% Microcephaly 90% Narrow nasal bridge 90% Neurological speech impairment 90% Prominent nasal bridge 90% Ptosis 90% Reduced bone mineral density 90% Scoliosis 90% Short philtrum 90% Thin skin 90% Abnormality of the nipple 50% Abnormality of the pinna 50% Delayed skeletal maturation 50% Glaucoma 50% Hemiplegia/hemiparesis 50% Microcornea 50% Optic atrophy 50% Seizures 50% Short stature 50% Absent eyebrow 2/2 Absent eyelashes 2/2 Convex nasal ridge 2/2 Glaucoma 2/2 Microcephaly 2/2 Progressive spastic quadriplegia 2/2 Short nose 2/2 Encephalocele 1/2 Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Pseudoprogeria syndrome
What are the symptoms of Alopecia-intellectual disability syndrome ?
What are the signs and symptoms of Alopecia-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia-intellectual disability 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hearing impairment 90% Microcephaly 90% Muscular hypotonia 90% Abnormality of the genital system 50% Brachydactyly syndrome 50% EEG abnormality 50% Ichthyosis 50% Photophobia 50% Seizures 50% Short stature 50% Split hand 50% Abnormal nasal morphology 7.5% Flexion contracture 7.5% Macrotia 7.5% Scoliosis 7.5% Alopecia universalis - Autosomal recessive inheritance - Intellectual disability, progressive - Intellectual disability, severe - 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 + Alopecia-intellectual disability syndrome
What is (are) Tumor necrosis factor receptor-associated periodic syndrome ?
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary from weeks to years. Episodes usually occur spontaneously, but are sometimes brought on by a variety of triggers (such as injury, infection, or stress). Symptoms during fever episodes may include abdominal, muscle or joint pains; skin rashes (usually on the limbs); puffiness around the eyes; and inflammation in various areas of the body. Some people develop amyloidosis. TRAPS is caused by mutations in the TNFRSF1A gene and is inherited in an autosomal dominant manner. Treatment may include systemic corticosteroids at the beginning of an episode to reduce its severity and duration. + GARD + Tumor necrosis factor receptor-associated periodic syndrome
What causes Tumor necrosis factor receptor-associated periodic syndrome ?
What causes tumor necrosis factor receptor-associated periodic syndrome (TRAPS)? TRAPS is a genetic condition caused by mutations in a gene called TNFRSF1A. This gene gives the body instructions to make a protein called tumor necrosis factor receptor 1 (TNFR1). This protein exists in cell membranes where it binds to another protein called tumor necrosis factor (TNF). The binding sends signals that tell the cells to trigger inflammation (producing immune system proteins) or self-destruct. Most TNFRSF1A gene mutations that cause TRAPS result in incorrectly-shaped TNFR1 proteins, which become trapped in cells and cannot reach the surface to bind with TNF. The trapped proteins then clump together and are thought to trigger other pathways involved in causing inflammation. Affected people typically have a mutation in only one of their 2 copies of the TNFRSF1A gene, so some normal TNFR1 proteins are still produced, leading to even more inflammation. This is what leads to excess inflammation in people with TRAPS. It is unclear if abnormalities in the cells' ability to self-destruct also plays a role in causing the features of TRAPS. + GARD + Tumor necrosis factor receptor-associated periodic syndrome
Is Tumor necrosis factor receptor-associated periodic syndrome inherited ?
How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. In many cases, a person with TRAPS inherits the condition from an affected parent. In other cases, the mutation occurs for the first time in the affected person and is not inherited from a parent. For unknown reasons, some people who inherit the mutated gene never develop features of TRAPS. When this occurs, a condition is said to have reduced penetrance. + GARD + Tumor necrosis factor receptor-associated periodic syndrome
What are the treatments for Tumor necrosis factor receptor-associated periodic syndrome ?
How might tumor necrosis factor receptor-associated periodic syndrome (TRAPS) be treated? While there is no proven treatment for TRAPS, non steroidal anti-inflammatory drugs (NSAIDS) may be used to relieve symptoms of fever, and corticosteroids may be used to reduce severity of symptoms in most people. However, these medications typically don't decrease the frequency of attacks. Etanercept, a TNF inhibitor, has been shown to be effective but its efficacy tends to wane over time. Standard doses of etanercept twice a week have been shown to decrease the frequency, duration, and severity of attacks in some people and it may also reverse or slow the progression of amyloidosis. More studies are needed to evaluate this medication for TRAPS. Additional information about the treatment of TRAPS can be viewed on Medscape's Web site. + GARD + Tumor necrosis factor receptor-associated periodic syndrome
What is (are) Stickler syndrome type 1 ?
Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner. + GARD + Stickler syndrome type 1
What are the symptoms of Stickler syndrome type 1 ?
What are the signs and symptoms of Stickler syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler 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) Abnormality of the vitreous humor 90% Cataract 90% Long philtrum 90% Myopia 90% Retinal detachment 90% Short nose 90% Skeletal dysplasia 90% Abnormality of the mitral valve 50% Abnormality of vertebral epiphysis morphology 50% Arthralgia 50% Cleft palate 50% Disproportionate tall stature 50% Joint hypermobility 50% Osteoarthritis 50% Platyspondyly 50% Proptosis 50% Sensorineural hearing impairment 50% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Visual impairment 7.5% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Beaking of vertebral bodies - Blindness - Depressed nasal bridge - Flat midface - Glaucoma - Irregular femoral epiphysis - Kyphosis - Malar flattening - Mitral valve prolapse - Pectus excavatum - Pierre-Robin sequence - Scoliosis - Spondyloepiphyseal dysplasia - 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 + Stickler syndrome type 1
What are the symptoms of Zunich neuroectodermal syndrome ?
What are the signs and symptoms of Zunich neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zunich neuroectodermal 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 dermatoglyphics 90% Abnormality of calvarial morphology 90% Aplasia/Hypoplasia of the nipples 90% Chorioretinal coloboma 90% Cognitive impairment 90% Depressed nasal ridge 90% Epicanthus 90% External ear malformation 90% Hearing impairment 90% Hypertelorism 90% Ichthyosis 90% Microdontia 90% Ptosis 90% Reduced number of teeth 90% Short philtrum 90% Strabismus 90% Tall stature 90% Thick lower lip vermilion 90% Abnormality of epiphysis morphology 50% Abnormality of the clavicle 50% Abnormality of the pulmonary valve 50% Adactyly 50% Brachydactyly syndrome 50% Cleft palate 50% Increased number of teeth 50% Opacification of the corneal stroma 50% Seizures 50% Short toe 50% Tetralogy of Fallot 50% Transposition of the great arteries 50% Upslanted palpebral fissure 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the kidney 7.5% Acute leukemia 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Clubbing of toes 7.5% Fine hair 7.5% Hyperkeratosis 7.5% Osteolysis 7.5% Skin ulcer 7.5% Ventricular septal defect 7.5% Acute lymphoblastic leukemia - Autosomal recessive inheritance - Brachycephaly - Broad-based gait - Cerebral atrophy - Clinodactyly of the 5th finger - Conductive hearing impairment - Duplicated collecting system - Frontal bossing - Hydronephrosis - Hypoplastic nipples - Intellectual disability - Joint contracture of the hand - Large for gestational age - Large hands - Long foot - Low-set nipples - Muscular hypotonia - Overfolded helix - Palmoplantar hyperkeratosis - Peripheral pulmonary artery stenosis - Prominent forehead - Retinal coloboma - Sparse hair - Ureteropelvic junction obstruction - Violent behavior - Webbed neck - Wide mouth - Wide nasal bridge - Widely spaced teeth - 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 + Zunich neuroectodermal syndrome