fenil210/Med-Lamma huggingface dataset:
What is (are) Chromosome 7p deletion ?
Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. + GARD + Chromosome 7p deletion
What are the symptoms of Dykes Markes Harper syndrome ?
What are the signs and symptoms of Dykes Markes Harper syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dykes Markes Harper 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) Developmental regression 90% Gait disturbance 90% Hepatomegaly 90% Ichthyosis 90% Incoordination 90% Neurological speech impairment 90% Splenomegaly 90% Ataxia - Autosomal recessive inheritance - Dysarthria - Hepatosplenomegaly - 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 + Dykes Markes Harper syndrome
What are the symptoms of Passos-Bueno syndrome ?
What are the signs and symptoms of Passos-Bueno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Passos-Bueno 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 macula 90% Encephalocele 90% Myopia 90% Retinal detachment 90% Skull defect 90% Abnormality of the vitreous humor 50% Hydrocephalus 50% Nystagmus 50% Visual impairment 50% Cataract 7.5% Depressed nasal bridge 7.5% Ectopia lentis 7.5% Epicanthus 7.5% Joint hypermobility 7.5% Lymphangioma 7.5% Malar flattening 7.5% Patent ductus arteriosus 7.5% Pyloric stenosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Vesicoureteral reflux 7.5% Mental deterioration 5% Ataxia - Autosomal recessive inheritance - Band keratopathy - Cerebellar atrophy - Cerebral atrophy - Congenital cataract - Macular hypoplasia - Occipital encephalocele - Phenotypic variability - Phthisis bulbi - Polymicrogyria - Severe Myopia - Ventriculomegaly - Visual loss - Vitreoretinal degeneration - 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 + Passos-Bueno syndrome
What is (are) Parapsoriasis ?
Parapsoriasis describes a group of skin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL). Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids. + GARD + Parapsoriasis
What are the symptoms of Hirschsprung disease polydactyly heart disease ?
What are the signs and symptoms of Hirschsprung disease polydactyly heart disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart disease. 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) Aganglionic megacolon - Autosomal recessive inheritance - Polysyndactyly of hallux - Preaxial foot polydactyly - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Hirschsprung disease polydactyly heart disease
What is (are) Endometrial stromal sarcoma ?
Endometrial stromal sarcoma is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the uterus. Endometrial stromal sarcoma, specifically, develops in the supporting connective tissue (stroma) of the uterus. Signs and symptoms of the condition include abnormal uterine bleeding (i.e. bleeding that is not part of menstrual periods or bleeding after menopause); abdominal pain and/or distension; and frequent urination. The exact underlying cause of endometrial stromal sarcoma is currently unknown. Most cases occur sporadically in people with no family history of the condition. Treatment varies based on the severity of the condition but may include surgery, radiation therapy, chemotherapy, and/or hormone therapy. + GARD + Endometrial stromal sarcoma
What is (are) Platelet storage pool deficiency ?
Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. + GARD + Platelet storage pool deficiency
What are the symptoms of Platelet storage pool deficiency ?
What are the signs and symptoms of Platelet storage pool deficiency? The signs and symptoms of platelet storage pool deficiency vary but may include: Frequent nosebleeds Abnormally heavy or prolonged menstruation Easy bruising Recurrent anemia Abnormal bleeding after surgery, dental work or childbirth The Human Phenotype Ontology provides the following list of signs and symptoms for Platelet storage pool deficiency. 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 bleeding - Acute leukemia - Autosomal dominant inheritance - Decreased mean platelet volume - Myelodysplasia - Prolonged bleeding time - 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 + Platelet storage pool deficiency
What causes Platelet storage pool deficiency ?
What causes platelet storage pool deficiency? Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Some platelet storage pool deficiencies are due to reduced or absent granules or granule contents. Others occur if the platelets are unable to empty the contents of the platelet granules into the bloodstream.  Platelet storage pool deficiencies can be genetic or acquired (non-genetic). The four major genetic forms include dense body deficiency, gray platelet syndrome, Factor V Quebec, and mixed alpha-granule/dense body deficiency. Platelet storage pool deficiency is also a feature of several inherited conditions such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Causes of acquired platelet storage pool deficiencies include: Systemic lupus erythematosus Cardiovascular bypass Hairy-cell leukemia + GARD + Platelet storage pool deficiency
Is Platelet storage pool deficiency inherited ?
Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons. + GARD + Platelet storage pool deficiency
How to diagnose Platelet storage pool deficiency ?
How is platelet storage pool deficiency diagnosed? A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include: Bleeding time studies Platelet aggregation studies Peripheral blood smear Flow cytometry (detects a reduction in certain types of granules in affected platelets) + GARD + Platelet storage pool deficiency
What are the treatments for Platelet storage pool deficiency ?
How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. Transfusions are generally used with caution as the potential risks often outweigh the benefits when bleeding is not life-threatening. People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS). + GARD + Platelet storage pool deficiency
What are the symptoms of Dermochondrocorneal dystrophy of Franois ?
What are the signs and symptoms of Dermochondrocorneal dystrophy of Franois? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermochondrocorneal dystrophy of Franois. 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 hand - Anterior cortical cataract - Autosomal recessive inheritance - Corneal dystrophy - Gingival overgrowth - Irregular tarsal ossification - Skin nodule - Subepithelial corneal opacities - 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 + Dermochondrocorneal dystrophy of Franois
What are the symptoms of Scholte syndrome ?
What are the signs and symptoms of Scholte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scholte syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the genital system 90% Blepharophimosis 90% Broad forehead 90% Cognitive impairment 90% Decreased body weight 90% Deeply set eye 90% High forehead 90% Midline defect of the nose 90% Muscular hypotonia 90% Short foot 90% Short palm 90% Short philtrum 90% Skeletal muscle atrophy 90% Thin vermilion border 90% Abnormality of calvarial morphology 50% Abnormality of the antihelix 50% Abnormality of the palate 50% Delayed eruption of teeth 50% Epicanthus 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Patellar aplasia 50% Patellar dislocation 50% Pes cavus 50% Sandal gap 50% Seizures 50% Short nose 50% Toe syndactyly 50% Truncal obesity 50% Upslanted palpebral fissure 50% Wide mouth 50% Abnormal facial shape - Abnormal joint morphology - Autosomal dominant inheritance - Early balding - Hypogonadism - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Scholte syndrome
What are the symptoms of Brachydactyly types B and E combined ?
What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. 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 - Brachydactyly syndrome - Broad distal phalanx of finger - Broad thumb - Concave nail - Short 4th finger - Short 4th metacarpal - Short 5th finger - Short 5th metacarpal - Short fifth metatarsal - Short thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Brachydactyly types B and E combined
What are the symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ?
What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 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) Autosomal recessive inheritance - Difficulty walking - Ectodermal dysplasia - Episodic fever - Failure to thrive - Gowers sign - Heat intolerance - Immunodeficiency - Muscular hypotonia - Myopathy - Recurrent aphthous stomatitis - Recurrent infections - Respiratory insufficiency due to muscle weakness - 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 + Immune dysfunction with T-cell inactivation due to calcium entry defect 1
What is (are) Neurofibromatosis ?
Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy and/or medicines. + GARD + Neurofibromatosis