Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Warfarin sensitivity ? 
 What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. 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 blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Autosomal dominant 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 are the symptoms of Graham Boyle Troxell syndrome ? 
 What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell 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) Hypertension 90% Multicystic kidney dysplasia 90% Pulmonary fibrosis 90% Recurrent respiratory infections 50% Respiratory insufficiency 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.
What are the symptoms of Chondrocalcinosis 1 ? 
 What are the signs and symptoms of Chondrocalcinosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrocalcinosis 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 dominant inheritance - Chondrocalcinosis - Osteoarthritis - 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 are the symptoms of Paget disease of bone, familial ? 
 What are the signs and symptoms of Paget disease of bone, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone, familial. 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) Hearing impairment 5% Autosomal dominant inheritance - Bone pain - Elevated alkaline phosphatase - Fractures of the long bones - Osteosarcoma - Patchy osteosclerosis - 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) Kallmann syndrome ? 
 Kallmann syndrome (KS) is a condition characterized primarily by hypogonadotropic hypogonadism (HH) and absent or diminished sense of smell (anosmia or hyposmia, respectively). HH is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development, but may be suspected in male infants with undescended testicles or an unusually small penis. Untreated adult males may have decreased bone density and muscle mass; decreased testicular volume; erectile dysfunction; diminished libido; and infertility. Untreated adult females almost always have absent menstruation with normal, little, or no breast development. In rare cases, features may include failure of kidney development (renal agenesis); hearing impairment; cleft lip or palate; and/or dental abnormalities. Most cases of KS are sporadic but some types are familial. The inheritance pattern differs depending on the genetic cause. Treatment includes hormone replacement therapy for sexual development. Fertility can be achieved in most cases.
What are the symptoms of Kallmann syndrome ? 
 What are the signs and symptoms of Kallmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann 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 sense of smell 90% Anterior hypopituitarism 90% Decreased fertility 90% Erectile abnormalities 90% Hypoplasia of penis 90% Abnormality of the voice 50% Breast aplasia 50% Cryptorchidism 50% Primary amenorrhea 50% Reduced bone mineral density 50% Abnormality of color vision 7.5% Cleft palate 7.5% Delayed skeletal maturation 7.5% Gait disturbance 7.5% Gynecomastia 7.5% Hemiplegia/hemiparesis 7.5% Ichthyosis 7.5% Incoordination 7.5% Muscle weakness 7.5% Muscular hypotonia 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Obesity 7.5% Pes cavus 7.5% Ptosis 7.5% Recurrent fractures 7.5% Reduced number of teeth 7.5% Renal hypoplasia/aplasia 7.5% Rocker bottom foot 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Skeletal dysplasia 7.5% Tremor 7.5% Visual impairment 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.
Is Kallmann syndrome inherited ? 
 How is Kallmann syndrome inherited? Kallmann syndrome (KS) may be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner depending on the gene(s) responsible. For example: KS due to mutations in the KAL1 gene (also called the ANOS1 gene), causing Kallmann syndrome 1, is inherited in an X-linked recessive manner. KS due to mutations in the FGFR1, PROKR2, PROK2, CHD7 or FGF8 genes (causing KS types 2, 3, 4, 5 and 6, respectively) is predominantly inherited in an autosomal dominant manner. KS due to mutations in PROKR2 and PROK2 can also be inherited in an autosomal recessive manner. In the majority of people with KS, the family history appears to be negative (the condition occurs sporadically). However, affected people are still at risk to pass the disease-causing mutation(s) on to their children, or to have an affected child. The risk for each child to be affected depends on the genetic cause in the affected person and may be up to 50%. People with personal questions about the genetic cause and inheritance of KS are encouraged to speak with a genetic counselor or other genetics professional. The genetic cause in many cases remains unknown, and a thorough family history should be obtained to understand the mode of inheritance in each family and to aid in genetic testing and counseling. Information about specific features present or absent in all family members can help determine the mode of inheritance present.
What is (are) Leber hereditary optic neuropathy ? 
 Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. This condition is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes.
What are the symptoms of Leber hereditary optic neuropathy ? 
 What are the signs and symptoms of Leber hereditary optic neuropathy? Blurring and clouding of vision are usually the first symptoms of this disorder. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens, often leading to severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In rare cases, other symptoms may occur such as heart arrhythmias and neurologic abnormalities (e.g., postural tremor, peripheral neuropathy, nonspecific myopathy, movement disorders), and a multiple sclerosis-like disorder. However, a significant percentage of people with a mutation that causes Leber hereditary optic neuropathy do not develop any features of the disorder. Specifically, more than 50 percent of males with a mutation and more than 85 percent of females with a mutation never experience vision loss or related medical problems. Additional factors may determine whether a person develops the signs and symptoms of this disorder. Environmental factors such as smoking and alcohol use may be involved, although studies of these factors have produced conflicting results. Researchers are also investigating whether changes in additional genes, particularly genes on the X chromosome, contribute to the development of signs and symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Leber hereditary optic neuropathy. 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) Optic neuropathy 33% Arrhythmia - Ataxia - Central retinal vessel vascular tortuosity - Centrocecal scotoma - Dystonia - Heterogeneous - Incomplete penetrance - Leber optic atrophy - Mitochondrial inheritance - Myopathy - Optic atrophy - Polyneuropathy - Postural tremor - Visual loss - 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 Leber hereditary optic neuropathy ? 
 What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). The genes related to Leber hereditary optic neuropathy each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of Leber hereditary optic neuropathy. Click here to visit the Genetic Home Reference Web site to learn more about how mutations in these genes cause Leber hereditary optic neuropathy.
Is Leber hereditary optic neuropathy inherited ? 
 How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. Men can be affected, but they cannot pass the condition on to their children. Often, people who develop the features of Leber hereditary optic neuropathy have no family history of the condition. Because a person may carry a mitochondrial DNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other medical problems associated with Leber hereditary optic neuropathy. It is important to note that all females with a mitochondrial DNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children.
What are the symptoms of Charcot-Marie-Tooth disease type 2J ? 
 What are the signs and symptoms of Charcot-Marie-Tooth disease type 2J? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2J. 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 eye - Abnormality of the respiratory system - Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal muscle weakness - Distal sensory impairment - Dysphagia - Foot dorsiflexor weakness - Hyporeflexia - Peripheral demyelination - Pes cavus - Progressive sensorineural hearing impairment - Sensorineural hearing impairment - Steppage 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.
What is (are) Dravet syndrome ? 
 Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.
What are the symptoms of Dravet syndrome ? 
 What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet 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) Absence seizures - Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Cortical visual impairment - Epileptic encephalopathy - Focal seizures with impairment of consciousness or awareness - Generalized myoclonic seizures - Hemiclonic seizures - Infantile onset - Mental deterioration - Motor delay - Postnatal microcephaly - Status epilepticus - 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) Charcot-Marie-Tooth disease type 2B ? 
 Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers in the hands and feet. Symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. Symptoms of CMT2B vary but tend to be similar to that of CMT type 1. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion.
What are the symptoms of Charcot-Marie-Tooth disease type 2B ? 
 What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. 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) Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Dystrophic toenail - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Peripheral axonal atrophy - Pes cavus - Pes planus - Steppage 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.