bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Johnson Munson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson Munson 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) Adactyly 90% Split foot 90% Vertebral segmentation defect 90% Abnormality of female external genitalia 50% Abnormality of pelvic girdle bone morphology 50% Abnormality of the metacarpal bones 50% Anonychia 50% Aplasia/Hypoplasia of the lungs 50% Asymmetry of the thorax 50% Elbow dislocation 50% Finger syndactyly 50% Oligohydramnios 50% Patent ductus arteriosus 50% Renal hypoplasia/aplasia 50% Toe syndactyly 50% Vaginal fistula 50% Aphalangy of hands and feet - Aphalangy of the hands - Aplasia of the phalanges of the toes - Autosomal recessive inheritance - Hemivertebrae - Pulmonary hypoplasia - Ventricular septal defect - 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 signs and symptoms of Autosomal recessive axonal neuropathy with neuromyotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive axonal neuropathy with neuromyotonia. 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 foot - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Fasciculations - Foot dorsiflexor weakness - Hyperhidrosis - Muscle cramps - Muscle stiffness - Myokymia - Myotonia - Progressive - Sensory axonal neuropathy - Skeletal muscle atrophy - 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 signs and symptoms of Omodysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Omodysplasia 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) Abnormality of the metacarpal bones 90% Cryptorchidism 90% Elbow dislocation 90% Limb undergrowth 90% Depressed nasal bridge 50% Frontal bossing 50% Hypertelorism 50% Hypoplasia of penis 50% Long philtrum 50% Malar flattening 50% Scrotal hypoplasia 50% Short nose 50% Abnormality of female internal genitalia 7.5% Brachydactyly syndrome 7.5% Patellar dislocation 7.5% Autosomal dominant inheritance - Bifid nasal tip - Dislocated radial head - Hypoplastic distal humeri - Hypospadias - Limited elbow flexion/extension - Micropenis - Rhizomelic arm shortening - Short 1st metacarpal - Short humerus - 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.
Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.
What are the signs and symptoms of Barber Say syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barber Say 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 eyelashes 90% Anteverted nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Delayed eruption of teeth 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Telecanthus 90% Wide mouth 90% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Hyperextensible skin 50% Atresia of the external auditory canal 7.5% External ear malformation 7.5% Shawl scrotum 7.5% High palate 5% Intellectual disability 5% Abnormality of female external genitalia - Abnormality of male external genitalia - Abnormality of the pinna - Autosomal dominant inheritance - Bulbous nose - Dermal atrophy - Dry skin - Ectropion - Hearing impairment - Hypoplastic nipples - Low-set ears - Mandibular prognathia - Redundant skin - Sparse eyebrow - Thin vermilion border - Underdeveloped nasal alae - 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 signs and symptoms of Revesz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Revesz 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 neutrophils 90% Abnormality of the nail 90% Abnormality of the oral cavity 90% Abnormality of the retinal vasculature 90% Anemia 90% Aplasia/Hypoplasia of the cerebellum 90% Fine hair 90% Intrauterine growth retardation 90% Microcephaly 90% Premature birth 90% Retinal detachment 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Abnormality of metabolism/homeostasis - Aplastic anemia - Ataxia - Autosomal dominant inheritance - Bone marrow hypocellularity - Cerebellar hypoplasia - Cerebral calcification - Exudative retinopathy - Fine, reticulate skin pigmentation - Hypertonia - Leukocoria - Megalocornea - Nail dystrophy - Nail pits - Nystagmus - Oral leukoplakia - Progressive neurologic deterioration - Ridged fingernail - Sparse hair - Sporadic - 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 signs and symptoms of Scholte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scholte 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 genital system 90% Blepharophimosis 90% Broad forehead 90% Cognitive impairment 90% Decreased body weight 90% Deeply set eye 90% High forehead 90% Midline defect of the nose 90% Muscular hypotonia 90% Short foot 90% Short palm 90% Short philtrum 90% Skeletal muscle atrophy 90% Thin vermilion border 90% Abnormality of calvarial morphology 50% Abnormality of the antihelix 50% Abnormality of the palate 50% Delayed eruption of teeth 50% Epicanthus 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Patellar aplasia 50% Patellar dislocation 50% Pes cavus 50% Sandal gap 50% Seizures 50% Short nose 50% Toe syndactyly 50% Truncal obesity 50% Upslanted palpebral fissure 50% Wide mouth 50% Abnormal facial shape - Abnormal joint morphology - Autosomal dominant inheritance - Early balding - Hypogonadism - 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.
What are the signs and symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial hypoplasia, triphalangeal thumbs and hypospadias. 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 dermatoglyphics 90% Aplasia/Hypoplasia of the radius 90% Mandibular prognathia 90% Micromelia 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Diastema - Hypoplasia of the radius - Hypospadias - Nonopposable triphalangeal thumb - 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.
Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and abdomen. Symptoms may vary, but often include an urgent or frequent need to urinate. Many of the individuals affected by IC are women. Because IC varies so much in symptoms and severity, most researchers believe it is not one, but several diseases. In recent years, scientists have started to use the terms bladder pain syndrome (BPS) or painful bladder syndrome (PBS) to describe cases with painful urinary symptoms that may not meet the strictest definition of IC. While there is no cure for IC/PBS, in many cases, the symptoms can be managed. Treatments include dietary and lifestyle changes; distending, or inflating, the bladder; bathing the inside of the bladder with a medicine solution; oral medicines and in rare cases, surgery.
Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.
What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may occur before. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, increased spacing, speech problems, and painful chewing. Absence of teeth (oligodontia) and extra (supernumerary) teeth have also been reported in people with Jones syndrome. Hearing loss has been reported to begin in the second or third decade of life and is bilateral (in both ears). Overlapping of symptoms with other syndromes associated with hereditary gingival fibromatosis (HGF) has been reported, including Zimmermann-Laband syndrome and gingival fibromatosis-hypertrichosis syndrome (HGF with excessive hair growth). It has been proposed that the overlapping features reported may represent a spectrum of a single disorder, rather than separate syndromes. The Human Phenotype Ontology provides the following list of signs and symptoms for Jones 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) Delayed eruption of teeth 90% Gingival overgrowth 90% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Gingival fibromatosis - Progressive sensorineural hearing 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.
How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth. The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss.
What are the signs and symptoms of Orofaciodigital syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 8. 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% Abnormality of the eyelashes 90% Abnormality of the palate 90% Abnormality of the voice 90% Anteverted nares 90% Bifid tongue 90% Blepharophimosis 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Chorioretinal coloboma 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% EEG abnormality 90% Finger syndactyly 90% Hearing abnormality 90% Increased number of teeth 90% Lip pit 90% Microcephaly 90% Non-midline cleft lip 90% Nystagmus 90% Polyhydramnios 90% Postaxial hand polydactyly 90% Prominent nasal bridge 90% Short philtrum 90% Short stature 90% Synophrys 90% Tapered finger 90% Telecanthus 90% Upslanted palpebral fissure 90% Ventriculomegaly 90% Wide nasal bridge 90% Bifid nasal tip - Broad nasal tip - Cleft palate - High palate - Hypertelorism - Hypoplasia of the epiglottis - Median cleft lip - Milia - Polydactyly - Recurrent aspiration pneumonia - Short tibia - Strabismus - Syndactyly - 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.
Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.[1]