fenil210/Med-Lamma huggingface dataset:
What is (are) Costello syndrome ?
Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by changes (mutations) in the HRAS gene. It is considered an autosomal dominant condition; however, almost all reported cases are the result of de novo gene mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person. + GARD + Costello syndrome
What are the symptoms of Sillence syndrome ?
What are the signs and symptoms of Sillence syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sillence 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 thumb phalanx 90% Camptodactyly of finger 90% Scoliosis 90% Tall stature 90% Abnormality of pelvic girdle bone morphology 50% Anonychia 50% Epicanthus 50% Single transverse palmar crease 50% Narrow face 7.5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Bilateral single transverse palmar creases - Broad foot - Chess-pawn distal phalanges - Distal symphalangism (hands) - Flat acetabular roof - Pes cavus - Short 1st metacarpal - Thoracolumbar scoliosis - Type A1 brachydactyly - 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. + GARD + Sillence syndrome
What are the symptoms of Bardet-Biedl syndrome 11 ?
What are the signs and symptoms of Bardet-Biedl syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 11. 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% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 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 - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - 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. + GARD + Bardet-Biedl syndrome 11
What is (are) Osteopetrosis autosomal recessive 5 ?
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis. + GARD + Osteopetrosis autosomal recessive 5
What are the symptoms of Osteopetrosis autosomal recessive 5 ?
What are the signs and symptoms of Osteopetrosis autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased osteoclast count - Hydrocephalus - Osteopetrosis - Stillbirth - 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. + GARD + Osteopetrosis autosomal recessive 5
What are the symptoms of Loeys-Dietz syndrome type 4 ?
What are the signs and symptoms of Loeys-Dietz syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome 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) Bicuspid aortic valve 5% Emphysema 5% Hypertelorism 5% Pneumothorax 5% Spondylolisthesis 5% Talipes equinovarus 5% Abnormality of the sternum - Aortic dissection - Arachnodactyly - Arterial tortuosity - Autosomal dominant inheritance - Bruising susceptibility - Dural ectasia - High palate - Inguinal hernia - Joint hyperflexibility - Mitral valve prolapse - Pes planus - Retrognathia - Scoliosis - Tall 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. + GARD + Loeys-Dietz syndrome type 4
What is (are) Fine-Lubinsky syndrome ?
Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner. + GARD + Fine-Lubinsky syndrome
What causes Fine-Lubinsky syndrome ?
What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional reports are needed to identify a possible genetic cause of FLS. While karyotypes (pictures of chromosomes) were reportedly normal in affected people, the presence of a very small chromosomal rearrangement (too small to detect with a karyotype) as a possible cause for FLS has not been ruled out. + GARD + Fine-Lubinsky syndrome
Is Fine-Lubinsky syndrome inherited ?
How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. Additional reports are needed to identify a possible genetic cause for the condition. Parents of a child with FLS should be aware that if the condition is inherited in an autosomal recessive manner, each of their children has a 25% (1 in 4) risk to be affected. Although karyotypes (pictures of chromosomes) have been reported as normal in affected people, the presence of a very small chromosomal rearrangement has not been excluded as a possible cause of FLS. + GARD + Fine-Lubinsky syndrome
How to diagnose Fine-Lubinsky syndrome ?
How is Fine-Lubinsky syndrome diagnosed? In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry. + GARD + Fine-Lubinsky syndrome
What is (are) Lynch syndrome ?
Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene. + GARD + Lynch syndrome
What are the symptoms of Lynch syndrome ?
What are the signs and symptoms of Lynch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lynch 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) Anemia 90% Constipation 90% Gastrointestinal hemorrhage 90% Intestinal obstruction 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the rectum 90% Weight loss 90% Biliary tract neoplasm 50% Neoplasm of the nervous system 50% Neoplasm of the pancreas 50% Neoplasm of the small intestine 50% Neoplasm of the stomach 50% Ovarian neoplasm 50% Renal neoplasm 50% Uterine neoplasm 50% Ascites 7.5% Hepatomegaly 7.5% Nausea and vomiting 7.5% Recurrent urinary tract infections 7.5% Autosomal dominant inheritance - Colon cancer - 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. + GARD + Lynch syndrome
What causes Lynch syndrome ?
What causes Lynch syndrome? Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or  EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors. + GARD + Lynch syndrome
Is Lynch syndrome inherited ?
Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer. + GARD + Lynch syndrome
How to diagnose Lynch syndrome ?
How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here. + GARD + Lynch syndrome
What is (are) Multicentric reticulohistiocytosis ?
Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). In the majority of cases, the cause of multicentric reticulohistiocytosis is unknown; however, it has been associated with an underlying cancer in about one fourth of cases, suggesting that it may be a paraneoplastic syndrome. + GARD + Multicentric reticulohistiocytosis
What are the symptoms of Multicentric reticulohistiocytosis ?
What are the signs and symptoms of Multicentric reticulohistiocytosis? The main symptoms of multicentric reticulohistiocytosis are arthritis and red to purple skin nodules varying in size from 1 to 10 mm. The nodules can be found on any part of the body but tend to concentrate on the face and hands and decrease in number from head to toe. The arthritis is most often symmetrical and polyarticular (affecting many joints). Unlike adult rheumatoid arthritis, it does not spare the joints closest to the fingertips. It can be severely destructive, and in one third of cases it progresses to arthritis multilans. Further history reveals that approximately one third of patients complain of symptoms such as fever, weight loss, and malaise; less often, pericarditis and myositis are present. The clinical presentation of multicentric reticulohistiocytosis is insidious in onset and begins with arthritic complaints in approximately two thirds of patients.  It is potentially one of the most rapidly destructive forms of arthritis. Joint involvement remits and relapses, gradually worsening into a debilitating and permanent arthritis multilans.  The severity of the damage has been reported to be related to the age of onset; therefore, the earlier one has symptoms, the more severe the symptoms tend to be.  Like the associated arthritis, skin lesions tend to wax and wane until the disease spontaneously resolves, but may leave permanent disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric reticulohistiocytosis. 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 oral cavity 90% Abnormality of the skin 90% Arthritis 90% Abnormality of temperature regulation 7.5% Decreased body weight 7.5% Muscle weakness 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. + GARD + Multicentric reticulohistiocytosis
What are the treatments for Multicentric reticulohistiocytosis ?
How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many different drugs have been used. For instance, therapy with non-steroidal anti-inflammatory agents (e.g., aspirin or ibuprofen) may help the arthritis. Systemic corticosteroids and/or cytotoxic agents, particularly cyclophosphamide, chlorambucil, or methotrexate, may affect the inflammatory response, prevent further joint destruction, and cause skin lesions to regress. Antimalarials (e.g., hydroxychloroquine and mefloquine) have also been used. Alendronate and other bisphosphonates have been reported to be effective in at least one patient and etanercept and infliximab have been effective in some. + GARD + Multicentric reticulohistiocytosis
What is (are) Portal hypertension ?
Portal hypertension is abnormally high blood pressure in branches of the portal vein, the large vein that brings blood from the intestine to the liver. Portal hypertension itself does not cause symptoms, but complications from the condition can lead to an enlarged abdomen, abdominal discomfort, confusion, drowsiness and internal bleeding. It may be caused by a variety of conditions, but cirrhosis is the most common cause in Western countries. Treatment is generally directed toward the cause of the condition, although emergency treatment is sometimes needed for serious complications. + GARD + Portal hypertension
What is (are) ADNP syndrome ?
ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.[1] ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1] + GARD + ADNP syndrome