Druvith/transformed_medDataset huggingface dataset:
Is Book syndrome inherited ? 
 How is Book syndrome inherited? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. In the Swedish family, the syndrome was inherited in an autosomal dominant manner. In autosomal dominant inheritance, having a mutation in only one copy of the responsible gene is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.
How to diagnose Book syndrome ? 
 How is Book syndrome diagnosed? Due to the rarity of Book syndrome and scarcity of reports in the medical literature, we are unaware of specific information about diagnosing Book syndrome. In general, ectodermal dysplasias are diagnosed by the presence of specific symptoms affecting the hair, nails, sweat glands, and/or teeth. When a person has at least two types of abnormal ectodermal features (e.g., malformed teeth and extremely sparse hair), the person is typically identified as being affected by an ectodermal dysplasia. Specific genetics tests to diagnose ectodermal dysplasia are available for only a limited number of ectodermal dysplasias. Unfortunately, there currently is no genetic test for Book syndrome because the gene responsible for the condition has not yet been identified. People who are interested in learning more about a diagnosis of ectodermal dysplasia for themselves or family members should speak with their dermatologist and/or dentist. These specialists can help determine whether a person has signs and/or symptoms of ectodermal dysplasia.
What is (are) Schizencephaly ? 
 Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
What are the symptoms of Schizencephaly ? 
 What are the signs and symptoms of Schizencephaly? Signs and symptoms of schizencephaly may include: Developmental delay Seizures Abnormally small head (microcephaly) Intellectual disability Partial or complete paralysis Poor muscle tone (hypotonia) Hydrocephalus Severity of symptoms depends on many factors, including the extent of the clefting and whether or not other brain abnormalities are present. For example, people with a small cleft in one hemisphere may have paralysis on one side of the body and little to no intellectual disability, while clefts in both hemispheres can lead to quadriplegia (paralysis of both arms and legs) and severe intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Schizencephaly. 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) Aplasia/Hypoplasia of the corpus callosum 90% EEG abnormality 90% Hypertonia 90% Porencephaly 90% Strabismus 90% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Seizures 50% Schizencephaly - 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.
What causes Schizencephaly ? 
 What causes schizencephaly? The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. This supports a genetic cause in some cases. Schizencephaly has also been linked to a variety of non-genetic factors, including young maternal age and certain medications and infections that can cause vascular disruptions (disruption of blood flow or blood supply) in a developing baby.
Is Schizencephaly inherited ? 
 Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene.
How to diagnose Schizencephaly ? 
 Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly. In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis.
What are the treatments for Schizencephaly ? 
 How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. Medications are often prescribed to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
What is (are) Trichorhinophalangeal syndrome type 1 ? 
 Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. The range and severity of symptoms may vary from case to case. Transmission of TRPS1 is autosomal dominant, linked to mutations in the TRPS1 gene localized to 8q24.12.
What are the symptoms of Trichorhinophalangeal syndrome type 1 ? 
 What are the signs and symptoms of Trichorhinophalangeal syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Frontal bossing 90% Long philtrum 90% Macrotia 90% Short distal phalanx of finger 90% Short stature 90% Thin vermilion border 90% Triangular face 90% Abnormality of the hip bone 50% Abnormality of the nail 50% Abnormality of the palate 50% Camptodactyly of finger 50% Hyperlordosis 50% Increased number of teeth 50% Muscular hypotonia 50% Pectus carinatum 50% Scoliosis 50% Abnormally low-pitched voice - Accelerated bone age after puberty - Arthralgia - Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Carious teeth - Chin with horizontal crease - Concave nail - Cone-shaped epiphyses of the middle phalanges of the hand - Cone-shaped epiphyses of the proximal phalanges of the hand - Coxa magna - Deep philtrum - Delayed eruption of teeth - Delayed skeletal maturation - Dental malocclusion - Fine hair - Flat capital femoral epiphysis - Infantile muscular hypotonia - Ivory epiphyses of the distal phalanges of the hand - Leukonychia - Microdontia - Narrow palate - Osteoarthritis - Osteopenia - Pear-shaped nose - Pes planus - Protruding ear - Recurrent respiratory infections - Scapular winging - Short metacarpal - Short metatarsal - Slow-growing hair - Sparse hair - Sparse lateral eyebrow - Swelling of proximal interphalangeal joints - Thin nail - 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.
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.
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.
What is (are) Lymphocytic vasculitis ? 
 Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.
What are the symptoms of Lymphocytic vasculitis ? 
 What are the signs and symptoms of Lymphocytic vasculitis? Lymphocytic vasculitis can cause a number of different symptoms.  Hives, red or purplish discolored patches, a bump (nodule), or an open sore (ulcer) have all been described as symptoms of this condition.  The size, location, and severity of symptoms varies widely among affected individuals.  Additional symptoms may occur if the vasculitis also affects internal organs; this is known as systemic vasculitis.  The symptoms of systemic vasculitis depend on which organs are affected and to what degree. The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphocytic vasculitis. 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 - Autosomal dominant inheritance - Nodular inflammatory vasculitis - 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.
What causes Lymphocytic vasculitis ? 
 What causes lymphocytic vasculitis? Lymphocytic vasculitis is thought to be caused by a number of different factors, such as infection, trauma, drug reaction, or an underlying condition such as arthritis.  Because this condition is rare and not yet well understood, it is believed that a full list of possible causes has yet to be assembled.
What is (are) Reynolds syndrome ? 
 Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodactyly, and telangiectasis. Diffuse scleroderma, or scleroderma that affects blood vessels, internal organs, and the skin, has also been reported. Although generally considered an autoimmune disorder, other causes have been suggested, including genetics. Reynolds syndrome may be caused by mutations in the LBR gene and inherited in an autosomal dominant fashion.
What are the symptoms of Reynolds syndrome ? 
 What are the signs and symptoms of Reynolds syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reynolds 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 gastric mucosa 90% Hepatomegaly 90% Myalgia 90% Pruritus 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Arthritis 50% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Irregular hyperpigmentation 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Mucosal telangiectasiae 50% Skin rash 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Ascites 7.5% Cirrhosis 7.5% Encephalitis 7.5% Lichenification 7.5% Respiratory insufficiency 7.5% Autosomal dominant inheritance - Biliary cirrhosis - Calcinosis - Elevated alkaline phosphatase - Elevated hepatic transaminases - Gastrointestinal hemorrhage - Hyperbilirubinemia - Jaundice - Lip telangiectasia - Palmar telangiectasia - Sclerodactyly - Splenomegaly - Steatorrhea - 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.
What is (are) Bethlem myopathy ? 
 Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Most cases are inherited in an autosomal dominant pattern and occur as the result of a new mutation. In rare cases, the disease follows an autosomal recessive pattern of inheritance. Treatment depends upon individual symptoms, but routinely involves physical therapy. Surgery or other measures may be undertaken as needed.
What are the symptoms of Bethlem myopathy ? 
 What are the signs and symptoms of Bethlem myopathy? Bethlem myopathy mainly affects skeletal muscles, the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles. The features of Bethlem myopathy can appear at any age. In some cases, the symptoms start before birth with decreased fetal movements. In others, low muscle tone and a stiff neck develop following birth. During childhood, delayed developmental milestones may be noted, leading to trouble sitting or walking. In some, symptoms don't occur until adulthood. Over time, approximately two-thirds of people with Bethlem myopathy will need to use a walker or wheelchair. In addition to the muscle problems, some people with Bethlem myopathy have skin abnormalities such as small bumps called follicular hyperkeratosis that develop around the elbows and knees; soft, velvety skin on the palms and soles; and wounds that split open with little bleeding and widen over time to create shallow scars. The Human Phenotype Ontology provides the following list of signs and symptoms for Bethlem 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) Camptodactyly of finger 90% Decreased body weight 90% EMG abnormality 90% Limitation of joint mobility 90% Myopathy 90% Abnormality of the cardiovascular system - Ankle contracture - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital muscular torticollis - Decreased fetal movement - Distal muscle weakness - Elbow flexion contracture - Elevated serum creatine phosphokinase - Limb-girdle muscle weakness - Motor delay - Neonatal hypotonia - Proximal muscle weakness - Respiratory insufficiency due to muscle weakness - Slow progression - Torticollis - 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.
What causes Bethlem myopathy ? 
 What causes Bethlem myopathy? Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle. Type VI collagen makes up part of the extracellular matrix, an intricate lattice that forms in the space between cells and provides structural support to the muscles. Mutations in the type VI collagen genes result in the formation of abnormal type VI collagen or reduced amounts of type VI collagen. This decrease in normal type VI collagen disrupts the extracellullar matrix surrounding muscle cells, leading to progressive muscle weakness and the other signs and symptoms of Bethlem myopathy.