sarnsrun/medquad huggingface dataset:
Topic: Muscular dystrophy, congenital, infantile with cataract and hypogonadism
Question: What are the symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism ?
Answer: What are the signs and symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, infantile with cataract and hypogonadism. 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 testis 90% Gait disturbance 90% Mask-like facies 90% Muscular hypotonia 90% Polycystic ovaries 90% Skeletal muscle atrophy 90% Abnormality of the nipple 50% Cataract 50% Cubitus valgus 50% Joint hypermobility 50% Kyphosis 50% Ptosis 50% Strabismus 50% Autosomal recessive inheritance - Congenital muscular dystrophy - Hypogonadism - 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: Primary melanoma of the central nervous system
Question: What causes Primary melanoma of the central nervous system ?
Answer: What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma.
Source: GARD
Topic: Bardet-Biedl syndrome 8
Question: What are the symptoms of Bardet-Biedl syndrome 8 ?
Answer: What are the signs and symptoms of Bardet-Biedl syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl 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 the kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - 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.
Source: GARD
Topic: Oculofaciocardiodental syndrome
Question: What is (are) Oculofaciocardiodental syndrome ?
Answer: Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.
Source: GARD
Topic: Acrocapitofemoral dysplasia
Question: What are the symptoms of Acrocapitofemoral dysplasia ?
Answer: What are the signs and symptoms of Acrocapitofemoral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocapitofemoral dysplasia. 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 femur 90% Abnormality of the hip bone 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Delayed skeletal maturation 90% Micromelia 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the metacarpal bones 50% Anonychia 50% Genu varum 50% Hyperlordosis 50% Macrocephaly 7.5% Narrow chest 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Scoliosis 7.5% Short thorax 7.5% Autosomal recessive inheritance - Broad nail - Cone-shaped capital femoral epiphysis - Cone-shaped epiphysis of the 1st metacarpal - Coxa vara - Cupped ribs - Delayed ossification of carpal bones - Disproportionate short stature - Disproportionate short-limb short stature - Dysplasia of the femoral head - Enlargement of the distal femoral epiphysis - Fibular overgrowth - Flared iliac wings - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic iliac wing - Lumbar hyperlordosis - Ovoid vertebral bodies - Relative macrocephaly - Short distal phalanx of finger - Short femoral neck - Short femur - Short humerus - Short metacarpal - Short palm - Short proximal phalanx of finger - Short proximal phalanx of thumb - Short ribs - Short tibia - 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: Vocal cord dysfunction familial
Question: What are the symptoms of Vocal cord dysfunction familial ?
Answer: What are the signs and symptoms of Vocal cord dysfunction familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Vocal cord dysfunction familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Laryngomalacia 90% Respiratory insufficiency 50% Autosomal dominant inheritance - Dysphagia - Microcephaly - Stridor - Vocal cord paralysis - 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: Fanconi anemia
Question: What is (are) Fanconi anemia ?
Answer: Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.
Source: GARD
Topic: Syndactyly type 9
Question: What are the symptoms of Syndactyly type 9 ?
Answer: What are the signs and symptoms of Syndactyly type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 9. 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% Adactyly 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the thumb 90% Brachydactyly syndrome 90% Short hallux 90% Toe syndactyly 90% Clinodactyly of the 5th finger 50% Symphalangism affecting the phalanges of the hand 50% Synostosis of carpal bones 50% 3-4 finger syndactyly - Aplasia/Hypoplasia of the hallux - Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - Aplasia/Hypoplasia of the middle phalanx of the 5th finger - Autosomal recessive inheritance - Proximal/middle symphalangism of 5th finger - Single transverse palmar crease - Symphalangism affecting the phalanges of the hallux - 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: Sea-Blue histiocytosis
Question: What are the symptoms of Sea-Blue histiocytosis ?
Answer: What are the signs and symptoms of Sea-Blue histiocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sea-Blue histiocytosis. 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 coagulation 90% Blepharitis 90% Edema 90% Hepatomegaly 90% Mediastinal lymphadenopathy 90% Splenomegaly 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Pulmonary infiltrates 50% Irregular hyperpigmentation 7.5% Retinopathy 7.5% Abnormality of the eye - Absent axillary hair - Autosomal recessive inheritance - Cirrhosis - Sea-blue histiocytosis - 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: Globozoospermia
Question: What is (are) Globozoospermia ?
Answer: Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with globozoospermia have changes (mutations) in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia. Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.
Source: GARD
Topic: Globozoospermia
Question: What are the symptoms of Globozoospermia ?
Answer: What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. 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 - Globozoospermia - 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: Felty's syndrome
Question: What is (are) Felty's syndrome ?
Answer: Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Felty's syndrome are asymptomatic, others can develop serious and life-threatening infections. Symptoms of Felty's syndrome, in addition to those associated with the three conditions stated above, may include fatigue, fever, weight loss, discoloration of patches of skin, mild hepatomegaly (enlarged liver), lymphadenopathy (swelling of lymph nodes), Sjgren syndrome, vasculitis, lower-extremity ulcers, and other findings. The exact cause is unknown, but several risk factors have been proposed, including autoimmunity. A few familial cases of the condition have been reported. Treatment typically focuses on controlling the underlying RA; immunosuppressive therapy for RA may improve neutropenia and splenomegaly.
Source: GARD
Topic: Felty's syndrome
Question: What are the symptoms of Felty's syndrome ?
Answer: What are the signs and symptoms of Felty's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Felty's 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 neutrophils 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Limitation of joint mobility 90% Osteolysis 90% Abnormality of lymphocytes 50% Anemia 50% Lymphadenopathy 50% Otitis media 50% Recurrent pharyngitis 50% Sinusitis 50% Splenomegaly 50% Weight loss 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Bone marrow hypocellularity 7.5% Cellulitis 7.5% Generalized hyperpigmentation 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Irregular hyperpigmentation 7.5% Lymphoma 7.5% Peripheral neuropathy 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Sepsis 7.5% Skin ulcer 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Neutropenia - Rheumatoid arthritis - 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: Felty's syndrome
Question: What causes Felty's syndrome ?
Answer: What causes Felty's syndrome? The exact cause of Felty's syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumatoid factor) positivity - being positive for a test used to help diagnose rheumatoid arthritis Long-term rheumatoid arthritis Aggressive and erosive synovitis (inflammation of the tissue that lines the joints) HLA-DR4 positivity (having a specific gene for the immune system that is associated with RA) and DR4 homozygosity (having 2 identical copies of this gene) Extra-articular RA manifestations (symptoms that are not joint-related)
Source: GARD
Topic: Felty's syndrome
Question: Is Felty's syndrome inherited ?
Answer: Is Felty's syndrome inherited? It has not been concluded that Felty's syndrome is an inherited condition; most individuals with Felty's syndrome have not had a history of the condition in their family. However, there have been a few reports of the condition appearing to be familial. Furthermore, although the condition itself may not be inherited, some of the risk factors associated with Felty's syndrome may have genetic components. One study found that a family history of rheumatoid arthritis was more common in patients with Felty's syndrome and that there was a strong association with HLA-DR4 (an immune system gene common in individuals with RA). The authors also stated that there was an increased frequency of another gene as well, suggesting that certain other immune system genes may interact with HLA-DR4 and contribute to individuals developing Felty's syndrome. In another report, the authors described a family in which 3 siblings had Felty's syndrome. All of the siblings shared a specific haplotype (a group of immune system genes that may be inherited together). The authors stated that they believe this supports the theory that multiple genetic factors are involved in family members being predisposed to Felty's syndrome. An earlier article described a family in which the mother and 2 of her 5 children had Felty's syndrome, which suggested autosomal dominant inheritance (which has not otherwise been reported).
Source: GARD
Topic: Aspergillosis
Question: What is (are) Aspergillosis ?
Answer: Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.
Source: GARD