Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of X-linked creatine deficiency ?
Answer: What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis 90% Cognitive impairment 90% Neurological speech impairment 90% Abnormality of movement 50% Aganglionic megacolon 50% Autism 50% Constipation 50% Decreased body weight 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Incoordination 50% Intestinal obstruction 50% Muscular hypotonia 50% Open mouth 50% Seizures 50% Short stature 50% Cutis laxa 7.5% Joint hypermobility 7.5% Mask-like facies 7.5% Microcephaly 7.5% Ptosis 7.5% Aggressive behavior - Attention deficit hyperactivity disorder - Broad forehead - Delayed myelination - Delayed speech and language development - Dystonia - Exotropia - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Hypermetropia - Hypoplasia of midface - Hypoplasia of the corpus callosum - Ileus - Impaired social interactions - Infantile onset - Intellectual disability - Long face - Malar flattening - Mandibular prognathia - Motor delay - Myopathic facies - Narrow face - Neonatal hypotonia - Pes cavus - Poor hand-eye coordination - Spasticity - Stereotypic behavior - Tall stature - Underfolded superior helices - Vomiting - 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.
Question:  What are the symptoms of Cone-rod dystrophy X-linked 2 ?
Answer: What are the signs and symptoms of Cone-rod dystrophy X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy X-linked 2. 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) Cone/cone-rod dystrophy - Progressive cone degeneration - X-linked 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.
Question:  What are the symptoms of Leber congenital amaurosis 16 ?
Answer: What are the signs and symptoms of Leber congenital amaurosis 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 16. 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) Strabismus 5% Autosomal recessive inheritance - Cataract - Nyctalopia - Nystagmus - Reduced visual acuity - Visual impairment - 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.
Question:  What are the symptoms of Mesomelia-synostoses syndrome ?
Answer: What are the signs and symptoms of Mesomelia-synostoses syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelia-synostoses 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 humerus 90% Abnormality of the metacarpal bones 90% Abnormality of the tibia 90% Aplasia/Hypoplasia of the uvula 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Limitation of joint mobility 90% Micromelia 90% Ptosis 90% Short foot 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Telecanthus 90% Ulnar deviation of finger 90% Abnormality of the femur 50% Abnormal nasal morphology 7.5% Abnormality of the ankles 7.5% Abnormality of the eyebrow 7.5% Abnormality of the upper urinary tract 7.5% Convex nasal ridge 7.5% Genu valgum 7.5% Hearing impairment 7.5% Hypoplasia of the zygomatic bone 7.5% Long philtrum 7.5% Myopia 7.5% Narrow mouth 7.5% Triangular face 7.5% Umbilical hernia 7.5% Short umbilical cord 3/5 Abnormality of the abdomen - Abnormality of the vertebrae - Absent uvula - Autosomal dominant inheritance - Hydronephrosis - Hypertelorism - Mesomelia - Mesomelic short stature - Microretrognathia - Nasal speech - Partial fusion of proximal row of carpal bones - Progressive forearm bowing - Ulnar deviation of the hand or of fingers of the hand - 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.
Question:  What are the symptoms of Seres-Santamaria Arimany Muniz syndrome ?
Answer: What are the signs and symptoms of Seres-Santamaria Arimany Muniz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seres-Santamaria Arimany Muniz 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) Abnormal hair quantity 90% Abnormality of the fingernails 90% Abnormality of the nose 90% Abnormality of the palpebral fissures 90% Abnormality of the toenails 90% Coarse hair 90% Hypohidrosis 90% Non-midline cleft lip 90% Abnormality of dental enamel 50% Abnormality of dental morphology 50% Abnormality of the eyelashes 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Generalized hyperpigmentation 50% Palmoplantar keratoderma 50% Reduced number of teeth 50% Abnormality of the pinna 7.5% Abnormality of the voice 7.5% Clinodactyly of the 5th finger 7.5% Conductive hearing impairment 7.5% Delayed eruption of teeth 7.5% Finger syndactyly 7.5% Lacrimation abnormality 7.5% Supernumerary nipple 7.5% Ventricular septal defect 7.5% 2-3 toe syndactyly - Abnormality of the nervous system - Absent eyelashes - Anhidrosis - Ankyloblepharon - Anonychia - Atresia of the external auditory canal - Autosomal dominant inheritance - Blepharitis - Cleft upper lip - Conical tooth - Conjunctivitis - Hyperconvex nail - Hyperpigmentation of the skin - Hypodontia - Hypoplasia of the maxilla - Hypospadias - Lacrimal duct atresia - Micropenis - Nail dystrophy - Oval face - Patchy alopecia - Patent ductus arteriosus - Selective tooth agenesis - Sparse body hair - Sparse eyelashes - Wide nasal bridge - Widely spaced teeth - 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.
Question:  What are the symptoms of Cataract, posterior polar, 1 ?
Answer: What are the signs and symptoms of Cataract, posterior polar, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, posterior polar, 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) Posterior polar cataract 12/12 Autosomal dominant inheritance - Choroideremia - Congenital cataract - Myopia - Total cataract - 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.
Question:  What are the symptoms of Thrombocytopenia with elevated serum IgA and renal disease ?
Answer: What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Glomerulonephritis - Hematuria - Increased IgA level - Thrombocytopenia - X-linked 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.
Question:  What are the symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth type 1 aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth type 1 aplasia cutis congenita. 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) Skull defect 3/3 Aplasia cutis congenita of scalp - Motor axonal neuropathy - Sensory axonal neuropathy - 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.
Question:  What are the symptoms of Carnosinemia ?
Answer: What are the signs and symptoms of Carnosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 90% Developmental regression 90% EEG abnormality 90% Seizures 90% Autosomal recessive inheritance - Carnosinuria - Generalized myoclonic seizures - Intellectual disability - 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.
Question:  What is (are) Brachydactyly type C ?
Answer: Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.
Question:  What are the symptoms of Brachydactyly type C ?
Answer: What are the signs and symptoms of Brachydactyly type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type C. 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 metacarpal bones 90% Brachydactyly syndrome 90% Cone-shaped epiphyses of the middle phalanges of the hand 90% Pseudoepiphyses of the 2nd finger 90% Pseudoepiphyses of the 3rd finger 90% Short 2nd finger 90% Short 3rd finger 90% Short middle phalanx of finger 90% Ulnar deviation of finger 90% Clinodactyly of the 5th finger 75% Enlarged epiphysis of the middle phalanx of the 2nd finger 75% Enlarged epiphysis of the middle phalanx of the 3rd finger 75% Enlarged epiphysis of the proximal phalanx of the 2nd finger 75% Enlarged epiphysis of the proximal phalanx of the 3rd finger 75% Short 1st metacarpal 75% Triangular epiphysis of the middle phalanx of the 2nd finger 75% Triangular epiphysis of the middle phalanx of the 3rd finger 75% Triangular epiphysis of the proximal phalanx of the 2nd finger 75% Triangular epiphysis of the proximal phalanx of the 3rd finger 75% Triangular shaped middle phalanx of the 2nd finger 75% Triangular shaped middle phalanx of the 3rd finger 75% Triangular shaped proximal phalanx of the 2nd finger 75% Triangular shaped proximal phalanx of the 3rd finger 75% Abnormality of the fingernails 50% Cone-shaped epiphysis 50% Short toe 50% Ulnar deviation of the 2nd finger 50% Ulnar deviation of the 3rd finger 50% Short stature 33% Delayed skeletal maturation 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Talipes equinovalgus 7.5% Talipes equinovarus 7.5% Autosomal dominant inheritance - Hypersegmentation of proximal phalanx of second finger - Hypersegmentation of proximal phalanx of third finger - Madelung deformity - Polydactyly - 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.
Question:  What is (are) Nance-Horan syndrome ?
Answer: Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with physical abnormalities and/or intellectual disability. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. Nance-Horan syndrome is caused by a mutation in the NHS gene and is inherited as an X-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.The treatment is directed toward the specific symptoms that are apparent in the individual.
Question:  What causes Nance-Horan syndrome ?
Answer: What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. These patients may have more problems and the problems may be more serious.
Question:  Is Nance-Horan syndrome inherited ?
Answer: How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. X-linked conditions result from mutations of a gene located on an X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. In females, disease traits resulting from the abnormal copy of a gene on one X chromosome can be 'masked' by the normal copy of the gene on the other X chromosome. Because only one functioning X chromosome is required in males and females, one of the X chromosomes in each cell of a female is essentially 'turned off,' usually in a random pattern (X chromosome inactivation). Therefore, if the X chromosome with the gene mutation is activated in some cells, female carriers may have some mild features of the disorder. However, since males only have one X chromosome, they will likely fully express a condition if they inherit a gene mutation that is located on the X chromosome.