sarnsrun/medquad huggingface dataset:
Topic: Oculodentoosseous dysplasia recessive
Question: What are the symptoms of Oculodentoosseous dysplasia recessive ?
Answer: What are the signs and symptoms of Oculodentoosseous dysplasia recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentoosseous dysplasia recessive. 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) 2-4 toe cutaneous syndactyly - 4-5 finger syndactyly - Abnormality of dental enamel - Abnormality of dental morphology - Autosomal recessive inheritance - Brachycephaly - Broad long bones - Cataract - Delayed eruption of teeth - Delayed skeletal maturation - Dental crowding - Dental malocclusion - Failure to thrive - Fifth finger distal phalanx clinodactyly - Frontal bossing - Hypoplasia of teeth - Hypoplasia of the maxilla - Large earlobe - Long nose - Long philtrum - Low-set ears - Macrodontia of permanent maxillary central incisor - Microcornea - Microphthalmia - Myopia - Narrow mouth - Narrow nose - Persistent pupillary membrane - Prominent epicanthal folds - Short foot - Short palpebral fissure - Short stature - Small hand - Sparse eyelashes - Telecanthus - 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.
Source: GARD
Topic: Potato nose
Question: What are the symptoms of Potato nose ?
Answer: What are the signs and symptoms of Potato nose? The Human Phenotype Ontology provides the following list of signs and symptoms for Potato nose. 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 nose - 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.
Source: GARD
Topic: Mental retardation Smith Fineman Myers type
Question: What are the symptoms of Mental retardation Smith Fineman Myers type ?
Answer: What are the signs and symptoms of Mental retardation Smith Fineman Myers type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation Smith Fineman Myers type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - 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.
Source: GARD
Topic: Birt-Hogg-Dube syndrome
Question: What is (are) Birt-Hogg-Dube syndrome ?
Answer: Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.
Source: GARD
Topic: Birt-Hogg-Dube syndrome
Question: What are the symptoms of Birt-Hogg-Dube syndrome ?
Answer: What are the signs and symptoms of Birt-Hogg-Dube syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Birt-Hogg-Dube 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 skin 90% Emphysema 90% Abnormality of retinal pigmentation 50% Multiple lipomas 50% Neoplasm of the gastrointestinal tract 7.5% Neoplasm of the parathyroid gland 7.5% Neoplasm of the thyroid gland 7.5% Renal neoplasm 7.5% Salivary gland neoplasm 7.5% Abnormality of the abdomen - Abnormality of the hair - Autosomal dominant inheritance - Fibrofolliculoma - Renal cell carcinoma - Renal cyst - Spontaneous pneumothorax - 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.
Source: GARD
Topic: Birt-Hogg-Dube syndrome
Question: What are the treatments for Birt-Hogg-Dube syndrome ?
Answer: How might lung cysts associated with Birt-Hogg-Dube syndrome be treated? At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs.  There is no recommended management of the lung cysts.  Lung cysts related to BHD have not been associated with long-term disability or fatality.  The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax). If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan.  Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions.  It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking. Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist).
Source: GARD
Topic: Blue rubber bleb nevus syndrome
Question: What is (are) Blue rubber bleb nevus syndrome ?
Answer: Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines).  The malformed blood vessels appear as a spot or lesion called a nevus.  The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person.  Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis).  Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. Other symptoms vary depending on the organ affected. Treatment is tailored to the individual depending on the location and symptoms caused by the affected areas.
Source: GARD
Topic: Blue rubber bleb nevus syndrome
Question: What causes Blue rubber bleb nevus syndrome ?
Answer: What causes blue rubber bleb nevus syndrome? Currently the cause of blue rubber bleb syndrome is not known.
Source: GARD
Topic: Blue rubber bleb nevus syndrome
Question: What are the treatments for Blue rubber bleb nevus syndrome ?
Answer: How might blue rubber bleb nevus syndrome be treated? Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary. Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding (hemorrhage).
Source: GARD
Topic: Histidinemia
Question: What are the symptoms of Histidinemia ?
Answer: What are the signs and symptoms of Histidinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinemia. 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) Behavioral abnormality 5% Neurological speech impairment 5% Intellectual disability 1% Autosomal recessive inheritance - Histidinuria - Hyperhistidinemia - 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.
Source: GARD
Topic: Klumpke paralysis
Question: What is (are) Klumpke paralysis ?
Answer: Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand.  Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia,), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.
Source: GARD
Topic: Klumpke paralysis
Question: What are the treatments for Klumpke paralysis ?
Answer: How might Klumpke paralysis be treated? The  affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery.    Most infants recover from neuropraxia within 4 months. Parents or guardians of infants that show no evidence of spontaneous recovery at 4 months, may be counseled regarding additional treatment options. These treatment options may include: Surgery on the nerves (e.g., nerve grafts and neuroma excision) Tendon transfers to help the muscles that are affected by nerve damage work better
Source: GARD
Topic: Optic atrophy 1
Question: What is (are) Optic atrophy 1 ?
Answer: Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. Additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings. It is usually caused by mutations in the OPA1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. This condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family. Treatment focuses on individual symptoms when possible.
Source: GARD
Topic: Optic atrophy 1
Question: What are the symptoms of Optic atrophy 1 ?
Answer: What are the signs and symptoms of Optic atrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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) Strabismus 10% Horizontal nystagmus 5% Progressive external ophthalmoplegia 48/104 Proximal muscle weakness 37/104 Ataxia 31/104 Abnormal amplitude of pattern reversal visual evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Incomplete penetrance - Insidious onset - Optic atrophy - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - 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.
Source: GARD
Topic: MYH-associated polyposis
Question: What is (are) MYH-associated polyposis ?
Answer: MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene.
Source: GARD
Topic: MYH-associated polyposis
Question: What are the symptoms of MYH-associated polyposis ?
Answer: What are the signs and symptoms of MYH-associated polyposis? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH-associated polyposis. 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) Colon cancer 5/12 Adenomatous colonic polyposis - Autosomal 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.
Source: GARD
Topic: MYH-associated polyposis
Question: What causes MYH-associated polyposis ?
Answer: What causes MYH-associated polyposis? Mutations in the MYH gene cause MYH-associated polyposis. Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer.
Source: GARD
Topic: Crome syndrome
Question: What are the symptoms of Crome syndrome ?
Answer: What are the signs and symptoms of Crome syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crome 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 renal tubule 90% Aplasia/Hypoplasia of the cerebellum 90% Cataract 90% Cognitive impairment 90% Encephalitis 90% Seizures 90% Nystagmus 50% Acute tubular necrosis - Autosomal recessive inheritance - Cerebellar dysplasia - Congenital cataract - Encephalopathy - Intellectual disability - Short stature - 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.
Source: GARD