fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations ?
What are the signs and symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia with multiple dislocations. 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 bone mineral density 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the wrist 90% Depressed nasal bridge 90% Kyphosis 90% Malar flattening 90% Micromelia 90% Platyspondyly 90% Scoliosis 90% Short stature 90% Skeletal dysplasia 90% Abnormality of the fingernails 50% Abnormality of the larynx 50% Abnormality of the sacrum 50% Anteverted nares 50% Cognitive impairment 50% Enlarged thorax 50% Frontal bossing 50% Genu valgum 50% Macrocephaly 50% Osteoarthritis 50% Patellar aplasia 50% Short nose 50% Tracheomalacia 50% Genu varum 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Pes planus 7.5% Short neck 7.5% Autosomal dominant inheritance - Broad distal phalanx of finger - Carpal bone hypoplasia - Caudal interpedicular narrowing - Congenital hip dislocation - Delayed phalangeal epiphyseal ossification - Dislocated radial head - Flared metaphysis - Flat capital femoral epiphysis - Hypoplasia of midface - Hypoplasia of the capital femoral epiphysis - Irregular epiphyses - Irregular vertebral endplates - Joint laxity - Large joint dislocations - Long distal phalanx of finger - Long proximal phalanx of finger - Metaphyseal irregularity - Narrow femoral neck - Posterior scalloping of vertebral bodies - Slender distal phalanx of finger - Slender proximal phalanx of finger - Small epiphyses - Soft skin - Spinal dysraphism - Spondyloepimetaphyseal dysplasia - Streaky metaphyseal sclerosis - 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 + Spondyloepimetaphyseal dysplasia with multiple dislocations
What are the symptoms of Hyperlipoproteinemia type 5 ?
What are the signs and symptoms of Hyperlipoproteinemia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia 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) Autosomal dominant inheritance - Hyperchylomicronemia - Hypoalphalipoproteinemia - Hypobetalipoproteinemia - Increased circulating very-low-density lipoprotein cholesterol - 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 + Hyperlipoproteinemia type 5
What is (are) Pterygium of the conjunctiva and cornea ?
Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on the size of the pterygium, a person can experience vision problems. Surgical removal of the pterygium is often not needed unless it is causing irritation or vision loss. + GARD + Pterygium of the conjunctiva and cornea
What are the symptoms of Pterygium of the conjunctiva and cornea ?
What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. 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) Opacification of the corneal stroma 50% Abnormality of the conjunctiva - Autosomal dominant inheritance - Pterygium - 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 + Pterygium of the conjunctiva and cornea
What is (are) Behr syndrome ?
Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person.  Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Autosomal dominant inheritance has been reported in one family. Treatment depends on the specific signs and symptoms seen in the patient. + GARD + Behr syndrome
What are the symptoms of Behr syndrome ?
What are the signs and symptoms of Behr syndrome? People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, and spasticity. Other signs and symptoms that may be present in patients with Behr syndrome include intellectual disability, loss of bladder control, and variable pyramidal tract dysfunction (e.g., increased tone in certain muscles, paralysis of voluntary movements, Babinski sign, increased deep tendon reflexes), peripheral neuropathy, dementia, and muscle contractures. The Human Phenotype Ontology provides the following list of signs and symptoms for Behr 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 color vision 90% Cognitive impairment 90% Hypertonia 90% Incoordination 90% Nystagmus 90% Optic atrophy 90% Strabismus 90% Visual impairment 50% Achilles tendon contracture - Adductor longus contractures - Ataxia - Autosomal recessive inheritance - Babinski sign - Cerebellar atrophy - Gait disturbance - Hamstring contractures - Hyperreflexia - Intellectual disability - Progressive spasticity - 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 + Behr syndrome
What causes Behr syndrome ?
What causes Behr syndrome? The exact cause of Behr syndrome is not known; however, a genetic cause is suspected based on the families identified, thus far. + GARD + Behr syndrome
What are the treatments for Behr syndrome ?
How might Behr syndrome be treated? Treatment is symptomatic. For instance, people who develop muscle contractures may have to undergo surgery. + GARD + Behr syndrome
What are the symptoms of Kaufman oculocerebrofacial syndrome ?
What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial 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 calvarial morphology 90% Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Microcephaly 90% Optic atrophy 90% Respiratory insufficiency 90% Upslanted palpebral fissure 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the eyebrow 50% Blepharophimosis 50% Epicanthus 50% Long face 50% Microcornea 50% Microdontia 50% Muscle weakness 50% Myopia 50% Narrow face 50% Nystagmus 50% Preauricular skin tag 50% Short philtrum 50% Strabismus 50% Telecanthus 50% Thin vermilion border 50% Wide mouth 50% Choroideremia 7.5% Female pseudohermaphroditism 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Brachycephaly - Carious teeth - Clinodactyly of the 5th finger - Clitoromegaly - Constipation - Diastema - High palate - Intellectual disability - Laryngeal stridor - Long palm - Muscular hypotonia - Narrow palm - Neonatal respiratory distress - Optic disc pallor - Ovoid vertebral bodies - Ptosis - Short nose - Single transverse palmar crease - Smooth philtrum - Sparse eyebrow - 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 + Kaufman oculocerebrofacial syndrome
What is (are) Tubular aggregate myopathy ?
Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell.  It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. The exact cause of the condition is unknown. Sporadic and genetic forms have been reported. Some cases appear to be due to dominant mutations in the STIM1 gene. + GARD + Tubular aggregate myopathy
What are the symptoms of Tubular aggregate myopathy ?
What are the signs and symptoms of Tubular aggregate myopathy? In general, many people with tubular aggregate myopathy have muscle weakness, muscle cramps, and exercise induced fatigue. Typically the facial muscles are not affected in tubular aggregate myopathy. The Human Phenotype Ontology provides the following list of signs and symptoms for Tubular aggregate myopathy. 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 pupil 5% External ophthalmoplegia 5% Flexion contracture 5% Nyctalopia 5% Respiratory insufficiency 5% Adult onset - Areflexia of lower limbs - Autosomal dominant inheritance - Difficulty running - Easy fatigability - Elevated serum creatine phosphokinase - Exercise-induced myalgia - Frequent falls - Hyporeflexia of lower limbs - Increased variability in muscle fiber diameter - Muscle cramps - Muscle stiffness - Myopathy - Proximal amyotrophy - Proximal muscle weakness - Slow progression - Type 2 muscle fiber atrophy - Weakness of the intrinsic hand muscles - 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. Are there different types of tubular aggregate myopathy? Yes. Symptoms of  tubular aggregate myopathy can be be grouped into at least three different types.  The first type is characterized by exercise induced cramps with or without muscle pain associated or not with weakness in the proximal muscles. The second type of tubular aggregate myopathy is characterized by isolated, slowly progressive weakness of the proximal muscles. The third type is characterized by progressive proximal weakness and sometimes fatigability. In this type the serum creatine kinase levels are often elevated. + GARD + Tubular aggregate myopathy
What causes Tubular aggregate myopathy ?
What causes tubular aggregate myopathy? Currently, the underlying cause of tubular aggregate myopathy is not known. Some cases appear to be due to dominant mutations in the STIM1 gene. + GARD + Tubular aggregate myopathy
Is Tubular aggregate myopathy inherited ?
Is tubular aggregate myopathy genetic? It is evident from family history studies that the condition can be passed through families in either an autosomal dominant or autosomal recessive fashion. Some cases appear to be due to dominant mutations in the STIM1 gene. Sporadic cases of tubular aggregate myopathy have also been reported. Sporadic is used to denote either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. + GARD + Tubular aggregate myopathy
What are the treatments for Tubular aggregate myopathy ?
How might tubular aggregate myopathy be treated? + GARD + Tubular aggregate myopathy
What is (are) Ehlers-Danlos syndrome, dermatosparaxis type ?
Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. + GARD + Ehlers-Danlos syndrome, dermatosparaxis type
What are the symptoms of Ehlers-Danlos syndrome, dermatosparaxis type ?
What are the signs and symptoms of Ehlers-Danlos syndrome, dermatosparaxis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), dermatosparaxis type vary but may include: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Hernias Short stature Delayed closure of the fontanelles Short fingers Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia Rupture of the bladder or diaphragm Mild to severe joint hypermobility The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, dermatosparaxis 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 coagulation 90% Abnormality of the hip bone 90% Atypical scarring of skin 90% Hyperextensible skin 90% Joint dislocation 90% Limitation of joint mobility 90% Muscular hypotonia 90% Neurological speech impairment 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Umbilical hernia 90% Depressed nasal bridge 50% Epicanthus 50% Hypertelorism 50% Scoliosis 50% Abnormality of primary molar morphology - Autosomal recessive inheritance - Blepharochalasis - Blue sclerae - Bruising susceptibility - Delayed closure of the anterior fontanelle - Fragile skin - Frontal open bite - Gingival bleeding - Gingival hyperkeratosis - Gingival overgrowth - Hirsutism - Hypodontia - Inguinal hernia - Joint laxity - Micromelia - Motor delay - Myopia - Osteopenia - Premature birth - Premature rupture of membranes - Recurrent mandibular subluxations - Redundant skin - Short phalanx of finger - Short toe - Soft, doughy skin - Spontaneous neonatal pneumothorax - Thick vermilion border - Wide anterior fontanel - 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 + Ehlers-Danlos syndrome, dermatosparaxis type
What causes Ehlers-Danlos syndrome, dermatosparaxis type ?
What causes Ehlers-Danlos syndrome, dermatosparaxis type? Ehlers-Danlos syndrome (EDS), dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene. This gene encodes an enzyme that helps process several types of "procollagen molecules" (precursors of collagen). Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in ADAMTS2 lead to reduced levels of functional enzyme which interferes with the proper processing of procollagens. As a result, networks of collagen are not assembled properly. This weakens connective tissues and causes the many signs and symptoms associated with EDS, dermatosparaxis type. + GARD + Ehlers-Danlos syndrome, dermatosparaxis type
Is Ehlers-Danlos syndrome, dermatosparaxis type inherited ?
Is Ehlers-Danlos syndrome, dermatosparaxis type inherited? Ehlers-Danlos syndrome, dermatosparaxis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. + GARD + Ehlers-Danlos syndrome, dermatosparaxis type
How to diagnose Ehlers-Danlos syndrome, dermatosparaxis type ?
How is Ehlers-Danlos syndrome, dermatosparaxis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the ADAMTS2 gene and/or a skin biopsy can then be ordered to confirm the diagnosis. + GARD + Ehlers-Danlos syndrome, dermatosparaxis type
What are the treatments for Ehlers-Danlos syndrome, dermatosparaxis type ?
How might Ehlers-Danlos syndrome, dermatosparaxis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with moderate to severe joint hypermobility. Assistive devices such as braces, wheelchairs, or scooters may also be necessary depending on the severity of joint instability. Hernias may be treated with surgery. Because EDS, dermatosparaxis type is associated with extremely fragile skin, affected people, especially children, may need to use protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Heavy exercise and contact sports may also need to be avoided due to skin fragility and easy bruising. Please speak to your healthcare provider if you have any questions about your personal medical management plan. + GARD + Ehlers-Danlos syndrome, dermatosparaxis type