sarnsrun/medquad huggingface dataset:
Topic: Disseminated superficial actinic porokeratosis
Question: What are the symptoms of Disseminated superficial actinic porokeratosis ?
Answer: What are the signs and symptoms of Disseminated superficial actinic porokeratosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Disseminated superficial actinic porokeratosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Hyperkeratosis 90% Hypohidrosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 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.
Source: GARD
Topic: X-linked lymphoproliferative syndrome 1
Question: What are the symptoms of X-linked lymphoproliferative syndrome 1 ?
Answer: What are the signs and symptoms of X-linked lymphoproliferative syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome 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) Cellular immunodeficiency 90% Decreased antibody level in blood 50% Hepatomegaly 50% Lymphadenopathy 50% Lymphoma 50% Splenomegaly 50% Anemia 7.5% Encephalitis - Fulminant hepatitis - Hepatic encephalopathy - IgG deficiency - Immunodeficiency - Increased IgM level - Meningitis - Pancytopenia - Recurrent pharyngitis - Reduced natural killer cell activity - Thrombocytopenia - 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: Eyebrows duplication of, with stretchable skin and syndactyly
Question: What are the symptoms of Eyebrows duplication of, with stretchable skin and syndactyly ?
Answer: What are the signs and symptoms of Eyebrows duplication of, with stretchable skin and syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Eyebrows duplication of, with stretchable skin and syndactyly. 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 eyebrow 90% Abnormality of the eyelashes 90% Cryptorchidism 90% Finger syndactyly 90% Ptosis 90% Shagreen patch 90% 2-3 toe syndactyly - 2-4 finger syndactyly - Autosomal recessive inheritance - Hyperextensible skin of chest - Hyperextensible skin of face - Hypermobility of interphalangeal joints - Long eyelashes - Partial duplication of eyebrows - Periorbital wrinkles - 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: Mesomelia-synostoses syndrome
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.
Source: GARD
Topic: Familial erythema nodosum
Question: What are the symptoms of Familial erythema nodosum ?
Answer: What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. 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 - Erythema - Erythema nodosum - 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: Vernal keratoconjunctivitis
Question: What is (are) Vernal keratoconjunctivitis ?
Answer: Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name "vernal") and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; and involuntary blinking or spasms of the eyelid (blepharospasm). The condition usually subsides at the onset of puberty. It is caused by a hypersensitivity (allergic reaction) to airborne-allergens. Management focuses on preventing "flare ups" and relieving the symptoms of the condition.
Source: GARD
Topic: Vernal keratoconjunctivitis
Question: What are the treatments for Vernal keratoconjunctivitis ?
Answer: How might vernal keratoconjunctivitis be treated? Management of vernal keratoconjunctivitis (VKC) focuses on preventing allergic attacks as well as relieving the signs and symptoms of the condition. It is often recommended that affected individuals try to avoid the agent that causes the allergy (if possible); wear dark sunglasses in the daytime; avoid dust; and stay inside on hot afternoons. Eye drops that affect the amount of histamine released by immune system cells (called mast cell stabilizers) may be used at the beginning of the season or at the first sign of a "flare-up" to prevent severe symptoms; however, they are not considered effective at relieving symptoms. Topical eye drops are generally preferred as the first source of treatment. Cold compresses, artificial tears, ointments and/or topical antihistamines may help. Non-steroid anti-inflammatory drugs (NSAIDS) may relieve symptoms in moderate cases; topical steroids are typically only used for more severe cases because long-term use can cause glaucoma. A few prescription drugs may also be available for the treatment of VKC; these include cromolyn sodium, lodoxamide tromethamine and Levocabastine. Oral administration of montelukast, a drug usually prescribed for asthma, has also been shown to be an effective treatment of VKC. For more information about these drugs and their availability, individuals should speak with their health care providers.
Source: GARD
Topic: Childhood-onset cerebral X-linked adrenoleukodystrophy
Question: What are the symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy ?
Answer: What are the signs and symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood-onset cerebral X-linked adrenoleukodystrophy. 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 skeletal system - Attention deficit hyperactivity disorder - Blindness - Bowel incontinence - Bulbar palsy - Dementia - Elevated long chain fatty acids - Hearing impairment - Hyperpigmentation of the skin - Hypogonadism - Impotence - Incoordination - Limb ataxia - Loss of speech - Neurodegeneration - Paraparesis - Polyneuropathy - Primary adrenal insufficiency - Progressive - Psychosis - Seizures - Slurred speech - Spastic paraplegia - Truncal ataxia - Urinary bladder sphincter dysfunction - Urinary incontinence - Visual loss - 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: Nephropathic cystinosis
Question: What is (are) Nephropathic cystinosis ?
Answer: 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]
Source: GARD
Topic: Nephropathic cystinosis
Question: What are the symptoms of Nephropathic cystinosis ?
Answer: What are the signs and symptoms of Nephropathic cystinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathic cystinosis. 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 voice - Autosomal recessive inheritance - Cerebral atrophy - Corneal crystals - Decreased plasma carnitine - Dehydration - Delayed puberty - Delayed skeletal maturation - Diabetes mellitus - Dysphagia - Elevated intracellular cystine - Episodic metabolic acidosis - Exocrine pancreatic insufficiency - Failure to thrive in infancy - Frontal bossing - Generalized aminoaciduria - Genu valgum - Glycosuria - Hepatomegaly - Hypohidrosis - Hyponatremia - Hypophosphatemic rickets - Hypopigmentation of hair - Hypopigmentation of the skin - Male infertility - Metaphyseal widening - Microscopic hematuria - Myopathy - Nephrolithiasis - Photophobia - Pigmentary retinopathy - Polydipsia - Polyuria - Primary hypothyroidism - Progressive neurologic deterioration - Proteinuria - Rachitic rosary - Recurrent corneal erosions - Reduced visual acuity - Renal Fanconi syndrome - Renal insufficiency - Retinal pigment epithelial mottling - Short stature - Skeletal muscle atrophy - Splenomegaly - 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: Congenital generalized lipodystrophy type 4
Question: What are the symptoms of Congenital generalized lipodystrophy type 4 ?
Answer: What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 4. 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) Hirsutism 5% Acanthosis nigricans - Autosomal recessive inheritance - Bradycardia - Constipation - Dysphagia - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Failure to thrive - Feeding difficulties - Flexion contracture - Generalized muscle weakness - Hepatic steatosis - Hepatomegaly - Hyperinsulinemia - Hyperlordosis - Hypertriglyceridemia - IgA deficiency - Ileus - Infantile onset - Insulin resistance - Lipodystrophy - Muscle mounding - Muscle stiffness - Muscular dystrophy - Myalgia - Osteopenia - Osteoporosis - Prolonged QT interval - Prominent umbilicus - Proximal muscle weakness - Pyloric stenosis - Recurrent infections - Scoliosis - Skeletal muscle hypertrophy - Spinal rigidity - Splenomegaly - 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: Cardioauditory syndrome of Sanchez Cascos
Question: What are the symptoms of Cardioauditory syndrome of Sanchez Cascos ?
Answer: What are the signs and symptoms of Cardioauditory syndrome of Sanchez Cascos? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioauditory syndrome of Sanchez Cascos. 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 recessive inheritance - Hearing impairment - Increased dermatoglyphic whorls - Ventricular hypertrophy - 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: Kniest like dysplasia lethal
Question: What are the symptoms of Kniest like dysplasia lethal ?
Answer: What are the signs and symptoms of Kniest like dysplasia lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Kniest like dysplasia lethal. 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 diaphysis morphology 90% Abnormal form of the vertebral bodies 90% Abnormality of the clavicle 90% Hydrops fetalis 90% Limb undergrowth 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Muscular hypotonia 90% Narrow chest 90% Osteoarthritis 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Short thorax 90% Spina bifida occulta 90% Abnormality of the helix 50% Arrhythmia 50% Atria septal defect 50% Brachydactyly syndrome 50% Cleft palate 50% Depressed nasal bridge 50% Low-set, posteriorly rotated ears 50% Proptosis 50% Abnormality of the pinna - Autosomal recessive inheritance - Breech presentation - Broad ribs - Coronal cleft vertebrae - Dumbbell-shaped long bone - Edema - Flared metaphysis - Flat face - Hypertelorism - Hypoplastic ilia - Hypoplastic vertebral bodies - Lethal short-limbed short stature - Low-set ears - Narrow mouth - Patent ductus arteriosus - Platyspondyly - Polyhydramnios - Premature birth - Protuberant abdomen - Relative macrocephaly - Rhizomelia - Short diaphyses - Short ribs - Skeletal dysplasia - Talipes equinovarus - Wide anterior fontanel - 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