fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Farber's disease ?
What are the signs and symptoms of Farber's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Farber's disease. 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) Arthralgia 90% Hepatomegaly 90% Joint swelling 90% Laryngomalacia 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the skin 50% Abnormality of the voice 50% Kyphosis 50% Nystagmus 50% Recurrent respiratory infections 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Skeletal muscle atrophy 50% Abnormality of the macula 7.5% Cognitive impairment 7.5% Opacification of the corneal stroma 7.5% Pulmonary fibrosis 7.5% Splenomegaly 7.5% Arthritis - Autosomal recessive inheritance - Cherry red spot of the macula - Failure to thrive - Hoarse cry - Intellectual disability - Irritability - Lipogranulomatosis - Motor delay - Periarticular subcutaneous nodules - Progressive - Variable expressivity - 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 + Farber's disease
What is (are) Singleton Merten syndrome ?
Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull. Other physical findings may include generalized muscle weakness; progressive muscle atrophy; growth delay; delays in motor development; skin conditions; and/or malformation of the hips and/or feet. It appears to occur sporadically (in individuals with no history of the condition in their family) but in some cases, autosomal dominant inheritance has been suggested. Treatment is typically directed toward the specific symptoms that are present in each individual. + GARD + Singleton Merten syndrome
How to diagnose Singleton Merten syndrome ?
How is Singleton Merten syndrome diagnosed? The diagnosis of Singleton Merten syndrome may be suspected during infancy based upon the identification of characteristic physical findings (i.e., muscle weakness, muscle atrophy, dental abnormalities, and skeletal changes). A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and/or a variety of specialized tests. The identification of calcium deposits in the aorta, in association with the other findings described above, strongly suggests a diagnosis of Singleton Merten syndrome. X-ray tests may be used to confirm the presence and extent of calcifications in the aorta. Obstruction or narrowing (stenosis) of the heart valves, particularly the aortic and mitral valves, may be confirmed by cardiac catheterization. During this procedure, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels leading to the heart. This procedure allows physicians to determine the rate of blood flow through the heart and measure the pressure within the heart. X-ray studies may also be performed to confirm the presence and extent of osteoporosis. Osteoporosis may be suspected when bone fractures occur more frequently than usual. X-ray tests may also reveal abnormal widening of the hollow parts of the bones that contain soft fatty tissue (bone marrow cavities) within the bones of the hands and/or feet. + GARD + Singleton Merten syndrome
What are the treatments for Singleton Merten syndrome ?
How might Singleton Merten syndrome be treated? The treatment of Singleton Merten syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, specialists who diagnose and treat abnormalities of the heart (cardiologists), dental specialists, physical therapists, specialists who diagnose and treat conditions of the skin (dermatologists), and other health care professionals may need to systematically and comprehensively plan an affected child's treatment. Specific therapies for the treatment of Singleton Merten syndrome are symptomatic and supportive. Special services that may be beneficial to affected children may include special social support, physical therapy, and other medical, social, and/or vocational services. Genetic counseling would be of benefit for affected individuals and their families. + GARD + Singleton Merten syndrome
What are the symptoms of Thyroid hormone plasma membrane transport defect ?
What are the signs and symptoms of Thyroid hormone plasma membrane transport defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid hormone plasma membrane transport defect. 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 - Euthyroid hyperthyroxinemia - Goiter - 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 + Thyroid hormone plasma membrane transport defect
What is (are) 22q13.3 deletion syndrome ?
22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. Common symptoms include low muscle tone (hypotonia), intellectual disability, delayed or absent speech, abnormal growth, tendency to overheat, large hands, and abnormal toenails. Affected individuals may have characteristic behaviors, such as mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors. The loss of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the signs and symptoms of 22q13.3 deletion syndrome. Additional genes within the deleted region probably contribute to the variable features of the syndrome. + GARD + 22q13.3 deletion syndrome
What are the symptoms of 22q13.3 deletion syndrome ?
What are the signs and symptoms of 22q13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q13.3 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) Abnormality of the eyelashes 90% Accelerated skeletal maturation 90% Delayed speech and language development 90% Hypoplastic toenails 90% Impaired pain sensation 90% Large hands 90% Muscular hypotonia 90% Neonatal hypotonia 90% Neurological speech impairment 90% Tall stature 90% Autism 75% Bruxism 75% Hyperorality 75% Long eyelashes 75% Poor eye contact 75% Abnormal nasal morphology 50% Abnormality of immune system physiology 50% Behavioral abnormality 50% Broad-based gait 50% Bulbous nose 50% Deeply set eye 50% Dolichocephaly 50% Full cheeks 50% Heat intolerance 50% Hypohidrosis 50% Macrotia 50% Malar flattening 50% Palpebral edema 50% Pointed chin 50% Ptosis 50% Sacral dimple 50% Thick eyebrow 50% Unsteady gait 50% Wide nasal bridge 50% 2-3 toe syndactyly 33% Clinodactyly of the 5th finger 33% Dental malocclusion 33% Epicanthus 33% Episodic vomiting 33% Gastroesophageal reflux 33% High palate 33% Long philtrum 33% Lymphedema 33% Seizures 33% Strabismus 33% Aggressive behavior 25% Hearing impairment 20% Arachnoid cyst 15% Tongue thrusting 15% Cellulitis 10% Abnormality of the periventricular white matter 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Delayed CNS myelination 7.5% Macrocephaly 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Cortical visual impairment 6% Microcephaly 1% Concave nasal ridge - Feeding difficulties - Generalized hypotonia - Hyporeflexia - Intellectual disability, moderate - Motor delay - Prominent supraorbital ridges - Protruding ear - Short chin - Sporadic - Toenail 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 + 22q13.3 deletion syndrome
What are the symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease ?
What are the signs and symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sclerosis similar to Pelizaeus-Merzbacher disease. 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 metabolism/homeostasis - Abnormality of the nervous system - 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 + Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
What is (are) Glutamate formiminotransferase deficiency ?
Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. Glutamate formiminotransferase deficiency is caused by mutations in the FTCD gene. It is inherited in an autosomal recessive pattern. + GARD + Glutamate formiminotransferase deficiency
What are the symptoms of Glutamate formiminotransferase deficiency ?
What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase deficiency. 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) Aminoaciduria - Autosomal recessive inheritance - Growth delay - Hypersegmentation of neutrophil nuclei - Intellectual disability - Megaloblastic anemia - Positive ferric chloride test - 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 + Glutamate formiminotransferase deficiency
What is (are) Linear scleroderma ?
Linear scleroderma  is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abnormalities of the muscles, fat tissue and skull. When the face is affected, some strips located on the forehead may be hollow and lead to an appearance termed "en coup de sabre". In most cases, Raynaud's phenomenon is absent. The exact cause is still unknown but may be related to an autoimmune reaction resulting in too much collagen. Management is symptomatic and includes immunosupressant medication. Physical therapy is helpful for the muscle retraction problems. + GARD + Linear scleroderma
What is (are) Isodicentric chromosome 15 syndrome ?
Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person. + GARD + Isodicentric chromosome 15 syndrome
What is (are) Tietz syndrome ?
Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner. The goal of treatment is to improve hearing; cochlear implantation may be considered. + GARD + Tietz syndrome
What are the symptoms of Tietz syndrome ?
What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tietz 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 anterior chamber 90% Aplasia/Hypoplasia of the eyebrow 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Autosomal dominant inheritance - Bilateral sensorineural hearing impairment - Blue irides - Congenital sensorineural hearing impairment - Hypopigmentation of the fundus - White eyebrow - White 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 + Tietz syndrome
How to diagnose Tietz syndrome ?
How is Tietz syndrome diagnosed? A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis. Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene. It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics. + GARD + Tietz syndrome
What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ?
Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G). + GARD + Autosomal recessive pseudohypoaldosteronism type 1
What are the symptoms of Autosomal recessive pseudohypoaldosteronism type 1 ?
What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism 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) Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Feeding difficulties in infancy - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperkalemia - Hyponatremia - Hypotension - Infantile onset - Metabolic acidosis - Pseudohypoaldosteronism - Recurrent respiratory infections - Renal salt wasting - Vomiting - 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 + Autosomal recessive pseudohypoaldosteronism type 1
What is (are) Idiopathic thrombocytopenic purpura ?
Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission. + GARD + Idiopathic thrombocytopenic purpura