fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Aplasia cutis congenita intestinal lymphangiectasia ?
What are the signs and symptoms of Aplasia cutis congenita intestinal lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita intestinal lymphangiectasia. 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% Lymphedema 90% Single transverse palmar crease 90% Skull defect 90% Clinodactyly of the 5th finger 50% Decreased antibody level in blood 50% Hypoproteinemia 50% Lymphopenia 50% Malabsorption 50% Abnormality of coagulation 7.5% Chorioretinal coloboma 7.5% Myopia 7.5% Abnormal bleeding - Abnormality of the paranasal sinuses - Aplasia cutis congenita over the scalp vertex - Autosomal recessive inheritance - Generalized edema - Intestinal lymphangiectasia - 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 + Aplasia cutis congenita intestinal lymphangiectasia
What are the symptoms of Amyotonia congenita ?
What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. 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 - Skeletal muscle atrophy - 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 + Amyotonia congenita
What are the symptoms of Angel shaped phalangoepiphyseal dysplasia ?
What are the signs and symptoms of Angel shaped phalangoepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Angel shaped phalangoepiphyseal dysplasia. 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 hip bone 50% Delayed eruption of teeth 50% Short stature 50% Delayed skeletal maturation 7.5% Delayed ossification of carpal bones - Hip osteoarthritis - Hyperextensibility of the finger joints - Premature osteoarthritis - Pseudoepiphyses of the metacarpals - 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 + Angel shaped phalangoepiphyseal dysplasia
What are the symptoms of Zlotogora syndrome ?
What are the signs and symptoms of Zlotogora syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zlotogora 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 philtrum - Anodontia - Anteverted ears - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Cutaneous finger syndactyly - Cutaneous syndactyly of toes - Hypodontia - Hypohidrosis - Microdontia - Nail dysplasia - Palmoplantar hyperkeratosis - Progressive hypotrichosis - Sparse eyebrow - Sparse eyelashes - 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 + Zlotogora syndrome
What are the symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality ?
What are the signs and symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. 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% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% EEG abnormality 90% Gingivitis 90% Memory impairment 90% Seizures 50% Hearing impairment 7.5% Hydrocephalus 7.5% Melanocytic nevus 7.5% Alopecia universalis - Autosomal dominant inheritance - Congenital alopecia totalis - Intellectual disability, mild - Periodontitis - 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, epilepsy, pyorrhea, mental subnormality
What are the symptoms of Keratoderma palmoplantar deafness ?
What are the signs and symptoms of Keratoderma palmoplantar deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar deafness. 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) Palmoplantar keratoderma 90% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Hearing impairment - Palmoplantar hyperkeratosis - 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 + Keratoderma palmoplantar deafness
What is (are) Silicosis ?
Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing.  Accelerated silicosis occurs after 5 to 15 years of exposure of higher levels of silica. Swelling of the lungs and other symptoms occur faster in this type of silicosis than in the simple chronic form.  Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica. The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months.  People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition. + GARD + Silicosis
What are the symptoms of Silicosis ?
What are the symptoms of silicosis? Symptoms of silicosis may include:  Chronic cough Shortness of breath with exercise, usually in patients who have progressive massive fibrosis Weakness  Other symptoms of this disease, especially in acute silicosis, may also include: Cough Fever Severe breathing difficulty Weight loss Night Sweats Chest pains + GARD + Silicosis
What causes Silicosis ?
What causes silicosis? Silicosis is caused by breathing in tiny bits of silica dust. When people breathe silica dust, they inhale tiny particles of silica that has crystallized. This silica dust can cause fluid buildup and scar tissue in the lungs that cuts down the ability to breathe. + GARD + Silicosis
What is (are) Chromosome 16p13.3 deletion syndrome ?
Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, serious organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. 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 has 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. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders. + GARD + Chromosome 16p13.3 deletion syndrome
What are the symptoms of Chromosome 16p13.3 deletion syndrome ?
What are the signs and symptoms of Chromosome 16p13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 16p13.3 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) Abnormal facial shape - Abnormality of the hairline - Abnormality of the kidney - Autosomal dominant contiguous gene syndrome - Broad hallux - Broad thumb - Clinodactyly of the 5th finger - Convex nasal ridge - Death in infancy - Facial hemangioma - Facial hypertrichosis - Failure to thrive - Feeding difficulties in infancy - High palate - Hypoplastic left heart - Intellectual disability - Low hanging columella - Microcephaly - Muscular hypotonia - Myopia - Nevus sebaceous - Obesity - Polysplenia - Prominent nose - Recurrent infections - Scoliosis - Seizures - Sleep disturbance - Somatic mosaicism - 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 + Chromosome 16p13.3 deletion syndrome
What is (are) Dyggve-Melchior-Clausen syndrome ?
Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. DMC is caused by mutations in the DYM gene and is inherited in an autosomal recessive manner. Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date. + GARD + Dyggve-Melchior-Clausen syndrome
How to diagnose Dyggve-Melchior-Clausen syndrome ?
How is Dyggve-Melchior-Clausen syndrome diagnosed? DMC syndrome may be suspected following a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings (e.g., barrel chest, and disproportionate short stature). Radiographs may confirm specific skeletal abnormalities and findings consistent with DMC syndrome. Genetic testing can also confirm a diagnosis. Is genetic testing available for Dyggve-Melchior-Clausen syndrome? GeneTests lists the name of the laboratory that performs clinical genetic testing for Dyggve-Melchior-Clausen syndrome. To view the contact information for this laboratory, click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you. + GARD + Dyggve-Melchior-Clausen syndrome
What are the treatments for Dyggve-Melchior-Clausen syndrome ?
How might Dyggve-Melchior-Clausen syndrome be treated? Treatment of individuals with DMC syndrome depends on the affected person's symptoms and is usually supportive. There is no cure for this condition. Treatments might include spinal fusion of the segments of the spinal column at the top of the spine or other means of vertebral stabilization. Additional surgical techniques may be used to correct various skeletal abnormalities such as dislocation of the shoulder and hip joints. In some cases, hip replacement is required. Children with DMC syndrome may benefit from early intervention and special educational programs. + GARD + Dyggve-Melchior-Clausen syndrome
What is (are) Meesmann corneal dystrophy ?
Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. A slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane.  Over time these cysts can rupture and cause erosions. The erosions may result in light sensitivity, redness, and pain. Vision remains good in most, but not all, cases. Meesmann corneal dystrophy can be caused by mutations in the KRT3 or KRT12 gene. It is inherited in an autosomal dominant fashion. + GARD + Meesmann corneal dystrophy
What are the symptoms of Meesmann corneal dystrophy ?
What are the signs and symptoms of Meesmann corneal dystrophy? Patients are usually asymptomatic until adulthood when rupture of the tiny cysts on the cornea cause recurrent erosions. Symptoms may include light sensitivity, contact lens intolerance, redness, pain, and occasionally blurred vision (i.e., irregular corneal astigmatism). Some people with Meesman corneal dystrophy experience no symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Meesmann 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 - Corneal dystrophy - Nonprogressive - Punctate opacification of the cornea - 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 + Meesmann corneal dystrophy
What causes Meesmann corneal dystrophy ?
What causes Meesmann corneal dystrophy? Meesmann corneal dystrophy is a genetic disease. It can be caused by mutations in either the KRT12 or KRT3 gene. These genes are thought to play an important role in maintaining normal corneal epithelial function. Meesmann corneal dystrophy is passed through families in an autosomal dominant fashion. + GARD + Meesmann corneal dystrophy
What are the treatments for Meesmann corneal dystrophy ?
How might Meesmann corneal dystrophy be treated? Treatment is usually not needed unless a person is experiencing symptoms. Most people only need lubricating eye drops. If symptoms are more severe, therapeutic contact lenses or cycloplegic eye drops may be used for severe sensitivity to light (photophobia). Hypertonic saline may be given if symptoms get worse when a person wakes up. Surgical procedures are sometimes tried when these treatments do not help, and may include epithelial debridement, or keratectomy. There is a high risk of recurrence with these procedures. Researchers are also evaluating a form of gene therapy called RNA interference (RNAi) which is also called therapeutic siRNA. This therapy may be able to silence the mutated gene that causes Meesman corneal dystrophy. + GARD + Meesmann corneal dystrophy
What is (are) Congenital pulmonary lymphangiectasia ?
Congenital pulmonary lymphangiectasia is a rare developmental disorder present from birth that affects the lungs. Infants with this condition have abnormally widened lymphatic vessels within the lungs. The lymphatic system, which helps the immune system protect the body against infection and disease, consists of a network of tubular channels that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. Lymph, which is made up of proteins, fats and certain white blood cells called lymphocytes, accumulates in the tiny spaces between tissue cells. Infants with congenital pulmonary lymphangiectasia often develop severe, potentially life-threatening, respiratory distress shortly after birth. They may also develop cyanosis, a condition caused by low levels of circulating oxygen in the blood which causes the skin to have a bluish tint. The exact cause of the condition is unknown. Congenital pulmonary lymphangiectasia can occur as a primary or secondary disorder. Primary congenital pulmonary lymphangiectasia can occur as an isolated defect within the lungs or as part of a a generalized form of lymphatic vessel malformation that affects the entire body. Secondary congenital pulmonary lymphangiectasia occurs secondary to another condition, often involving the heart. + GARD + Congenital pulmonary lymphangiectasia