fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Quinquaud's decalvans folliculitis ?
What are the signs and symptoms of Quinquaud's decalvans folliculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Quinquaud's decalvans folliculitis. 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% Pustule 90% Skin ulcer 90% Atypical scarring of skin 50% 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 + Quinquaud's decalvans folliculitis
What are the symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification ?
What are the signs and symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes insipidus nephrogenic mental retardation and intracerebral calcification. 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 90% Abnormality of the antihelix 90% Carious teeth 90% Cerebral calcification 90% Cognitive impairment 90% Hypoplasia of the zygomatic bone 90% Increased number of teeth 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the genital system 50% Conductive hearing impairment 50% Nephrogenic diabetes insipidus - 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 + Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
What is (are) Congenital myasthenic syndrome ?
Congenital myasthenic syndrome (CMS) is a group of genetic disorders that result in muscle weakness and fatigue. Symptoms can range from mild weakness to progressive disabling weakness. There are three main subtypes of CMS, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). Identification of the specific subtype is important in patient care for determining the most effective treatment. Mutations in many genes have been found to cause CMS, and most forms of CMS are inherited in an autosomal recessive pattern. One form of CMS, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner. + GARD + Congenital myasthenic syndrome
Is Congenital myasthenic syndrome inherited ?
How is congenital myasthenic syndrome inherited? Almost all types of CMS are inherited in an autosomal recessive manner. In order to have the autosomal recessive form of CMS, both parents of an affected individual must be carriers of the disease causing mutation. If a person has CMS, but their partner is not a carrier of a CMS mutation, then their children will be carriers but will not have CMS. If one person has CMS and one person is a carrier of CMS, each child has a 50% chance of either being a carrier of CMS or having the disorder. Only one form of CMS (slow-channel syndrome congenital myasthenic syndrome) has been shown to be inherited in an autosomal dominant manner. This means that if one parent has slow-channel syndrome congenital myasthenic syndrome then all of their children have a 50% chance of inheriting the disorder as well. It is important to discuss this information with your health care provider, such as a genetic counselor, to accurately determine a person's risk for passing on this disorder. + GARD + Congenital myasthenic syndrome
What is (are) Leukonychia totalis ?
Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate. It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person's lifetime. The inherited forms can be caused by mutations in the PLCD1 gene and generally involve the entire plate of all 20 nails. In some cases, leukonychia totalis has been associated with various other abnormalities or syndromes. Treatment may focus on the underlying cause when it is associated with another condition. + GARD + Leukonychia totalis
What are the symptoms of Leukonychia totalis ?
What are the signs and symptoms of Leukonychia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukonychia totalis. 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 fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - 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 + Leukonychia totalis
What causes Leukonychia totalis ?
What causes leukonychia totalis? Leukonychia totalis (also called total leukonychia) is thought to be due to abnormal keratinization (conversion into keratin) of the nail plate. Keratin is a protein that is a major component of the epidermis (outer layer of skin), hair, nails, and horny tissues. The condition is usually inherited, following either an autosomal dominant or autosomal recessive inheritance pattern. These inherited forms can be caused by mutations in the PLCD1 gene. In some cases, leukonychia occurs in association with other underlying abnormalities or syndromes. Conditions that have been reported include palmoplantar keratoderma; certain types of cysts; severe keratosis pilaris; pili torti; hypotrichosis (lack of hair growth); onychorrhexis (brittle nails); koilonychia (spoon-shaped nails); Bart-Pumphrey syndrome; and Buschkell-Gorlin syndrome, when it occurs with sebaceous cysts and kidney stones. It has also reportedly been associated with typhoid fever, leprosy, cirrhosis, nail biting, trichinosis, and cytotoxic drugs (drugs that are toxic to cells). In a few cases, the cause of leukonychia is unknown (idiopathic). + GARD + Leukonychia totalis
Is Leukonychia totalis inherited ?
Is leukonychia totalis inherited? Leukonychia totalis can be inherited in either an autosomal dominant or autosomal recessive manner. It may also occur as part of various underlying conditions or abnormalities, some of which have their own specific genetic cause(s) and inheritance patterns. In some cases, the condition is idiopathic (of unknown cause). Autosomal dominant inheritance means that having a change (mutation) in only one copy of the disease-causing gene is enough to cause signs or symptoms. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Autsomal recessive inheritance means that a person must have mutations in both copies of the disease-causing gene to have the condition. Usually, one mutated copy is inherited from each parent, who are each referred to as a carrier.  Carriers of an autosomal recessive condition typically do not have any signs or symptoms. + GARD + Leukonychia totalis
What are the treatments for Leukonychia totalis ?
How might leukonychia totalis be treated? There is no universally successful treatment for the whitening of the nails in people with leukonychia totalis. However, if the condition is known to have an underlying cause, treating that cause (when possible) may improve the condition. + GARD + Leukonychia totalis
What is (are) Limb-girdle muscular dystrophy type 2I ?
Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. LGMD2I is caused by changes (mutations) in the FKRP gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person. + GARD + Limb-girdle muscular dystrophy type 2I
What are the symptoms of Limb-girdle muscular dystrophy type 2I ?
What are the signs and symptoms of Limb-girdle muscular dystrophy type 2I? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2I. 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) Exercise-induced myoglobinuria 25% Achilles tendon contracture - Autosomal recessive inheritance - Calf muscle hypertrophy - Congenital muscular dystrophy - Difficulty climbing stairs - Difficulty walking - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - Frequent falls - Hyperlordosis - Impaired left ventricular function - Kyphosis - Macroglossia - Muscle cramps - Myalgia - Nocturnal hypoventilation - Pelvic girdle muscle weakness - Proximal muscle weakness - Restrictive respiratory insufficiency - Scoliosis - Shoulder girdle muscle weakness - Thigh hypertrophy - Toe walking - Variable expressivity - Vertebral fusion - Waddling gait - 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 + Limb-girdle muscular dystrophy type 2I
What is (are) Beriberi ?
Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases, beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth. + GARD + Beriberi
What is (are) X-linked Charcot-Marie-Tooth disease type 5 ?
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a neurological condition characterized by peripheral neuropathy, early-onset bilateral profound sensorineural hearing loss, and optic neuropathy leading to visual impairment. Peripheral neuropathy often begins with the lower extremities during childhood with foot drop and difficulty walking. Symptoms in the upper extremities are generally less severe and develop later. Intellect and life span are normal. CMTX5 is caused by a mutation in the PRPS1 gene. The condition is inherited in an X-linked recessive manner. In rare cases, female carriers may exhibit mild symptoms. Standard guidelines for treatment of peripheral neuropathy, hearing loss and vision impairment should be followed. + GARD + X-linked Charcot-Marie-Tooth disease type 5
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 5 ?
What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 5. 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) Decreased nerve conduction velocity 90% Hearing impairment 90% Optic atrophy 90% Pes cavus 90% Impaired pain sensation 50% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Areflexia of lower limbs - Childhood onset - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Motor delay - Onion bulb formation - Progressive visual loss - Segmental peripheral demyelination/remyelination - Sensorineural hearing 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 + X-linked Charcot-Marie-Tooth disease type 5
What is (are) Bobble-head doll syndrome ?
Bobble-head doll syndrome (BHDS) is a rare neurological condition that is typically first seen in childhood. The signs and symptoms of BHDS include characteristic up and down head movements that increase during walking and excitement and decrease during concentration. Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that also cause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain. + GARD + Bobble-head doll syndrome
What are the symptoms of Platyspondylic lethal skeletal dysplasia Torrance type ?
What are the signs and symptoms of Platyspondylic lethal skeletal dysplasia Torrance type? The Human Phenotype Ontology provides the following list of signs and symptoms for Platyspondylic lethal skeletal dysplasia Torrance type. 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 epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short distal phalanx of finger 90% Short stature 90% Short thorax 90% Short toe 90% Aplasia/Hypoplasia of the lungs 50% Depressed nasal bridge 50% Genu varum 50% Hydrops fetalis 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Polyhydramnios 50% Sprengel anomaly 50% Cleft palate 7.5% Abnormality of the abdominal wall - Autosomal dominant inheritance - Coarse facial features - Decreased cranial base ossification - Disc-like vertebral bodies - Flat acetabular roof - Hypoplastic ilia - Hypoplastic ischia - Hypoplastic pubic bone - Lethal skeletal dysplasia - Macrocephaly - Metaphyseal cupping - Neonatal short-limb short stature - Protuberant abdomen - Severe limb shortening - Severe platyspondyly - Short long bone - Short neck - Short ribs - Thin ribs - 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 + Platyspondylic lethal skeletal dysplasia Torrance type
What is (are) Primary orthostatic tremor ?
Primary orthostatic tremor is a movement disorder characterized by rhythmic muscle contractions that occur in the legs and trunk immediately after standing. It may be perceived more as an unsteadiness than an actual tremor. The tremor may disappear or improve when a person is sitting or walking. Over time, the tremors may become more severe, affecting quality of life and causing increasing disability. In some cases, primary orthostatic tremor may occur with other movement disorders. Individuals with primary orthostatic tremor may be treated with clonazepam and primidone. The cause of this condition is unknown. + GARD + Primary orthostatic tremor
What are the symptoms of Primary orthostatic tremor ?
What are the signs and symptoms of Primary orthostatic tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary orthostatic tremor. 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) EMG abnormality 90% Flexion contracture 90% Tremor 90% Myalgia 50% Abnormality of extrapyramidal motor function 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Primary orthostatic tremor
What is (are) Polyarteritis nodosa ?
Polyarteritis nodosa is a serious blood vessel disease in which medium-sized arteries become swollen and damaged. It occurs when certain immune cells attack the affected arteries preventing vital oxygen and nourishment. Signs and symptoms may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and joint aches, and abdominal pain. The skin may show rashes, swelling, ulcers, and lumps. When nerve cells are involved numbness, pain, burning, and weakness may be present. Polyarteritis nodosa can cause serious health complications including strokes, seizures, and kidney failure. Treatment often includes steroids and other drugs to suppress the immune system. + GARD + Polyarteritis nodosa