fenil210/Med-Lamma huggingface dataset:
Is Thanatophoric dysplasia inherited ?
Is thanatophoric dysplasia inherited? Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell causes the condition. However, almost all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. No affected individuals are known to have had children, so the disorder has not been passed to the next generation. + GARD + Thanatophoric dysplasia
What is (are) Hemolytic uremic syndrome, atypical, childhood ?
Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your bodys immune system). Environmental factors include viral or bacterial infections, certain medications (such as anticancer drugs), chronic diseases, cancers, and organ transplantation.  Most cases are sporadic. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Atypical hemolytic-uremic syndrome differs from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and symptoms. + GARD + Hemolytic uremic syndrome, atypical, childhood
What is (are) Bednar tumor ?
Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma that develops in the deep layers of the skin. It accounts for approximately 1% of all DFSP cases. Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-colored (i.e red and brown) appearance. The tumor may begin as a painless, slow-growing papule or patch of skin; however, accelerated growth, bleeding and/or pain are often observed as it grows. The underlying cause of Bednar tumor is unknown. There is currently no evidence of an inherited risk for the condition and most cases occur sporadically in people with no family history of the condition. Treatment varies based on the severity of the condition, the location of the tumor and the overall health of the affected person. The tumor is generally treated with surgery. In advanced cases, radiation therapy and/or systemic therapy may be recommended, as well. + GARD + Bednar tumor
What is (are) Juvenile osteoporosis ?
Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis. Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. When it does occur, it is usually caused by an underlying medical disorder or by medications used to treat the disorder. This is called secondary osteoporosis. Sometimes, however, there is no identifiable cause of osteoporosis in a child. This is known as idiopathic osteoporosis. There is no established medical or surgical therapy for juvenile osteoporosis. In some cases, treatment is not necessary, as the condition resolves spontaneously. Early diagnosis may allow for preventive steps, including physical therapy, avoidance of weight-bearing activities, use of crutches and other supportive care. A well-balanced diet rich in calcium and vitamin D is also important. In severe, long-lasting cases, medications such as bisphosphonates may be used. In most cases, complete recovery of bone occurs. + GARD + Juvenile osteoporosis
What are the symptoms of Juvenile osteoporosis ?
What are the signs and symptoms of Juvenile osteoporosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile osteoporosis. 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) Bone pain 90% Recurrent fractures 90% Reduced bone mineral density 90% Gait disturbance 50% Kyphosis 7.5% Autosomal recessive inheritance - Low serum calcitriol (1,25-dihydroxycholecalciferol) - Osteoporosis - 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 + Juvenile osteoporosis
What is (are) Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes (mutations) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person. + GARD + Hydrocephalus due to congenital stenosis of aqueduct of sylvius
What are the symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
What are the signs and symptoms of Hydrocephalus due to congenital stenosis of aqueduct of sylvius? Males with hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other signs and symptoms may include: Seizures Severe intellectual disability Spasticity Of note, HSAS is one form of L1 syndrome, which is an inherited condition that primarily affects the nervous system. Other forms include MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. All of the different forms of L1 syndrome may be observed in affected people within the same family. GeneReviews offers more specific information about the signs and symptoms associated with each form of L1 syndrome. Please click on the link to access this resource. The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus due to congenital stenosis of aqueduct of sylvius. 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) Aqueductal stenosis 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hydrocephalus 90% Increased intracranial pressure 90% Adducted thumb 50% Coarse facial features 7.5% Holoprosencephaly 7.5% Limitation of joint mobility 7.5% Nystagmus 7.5% Seizures 7.5% Strabismus 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Corticospinal tract hypoplasia - Intellectual disability - Macrocephaly - Spastic paraplegia - Spasticity - 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. + GARD + Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Is Hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited ?
Is hydrocephalus due to congenital stenosis of aqueduct of sylvius inherited? Hydrocephalus due to congenital stenosis of aqueduct of sylvius is inherited in an X-linked recessive manner. A condition is X-linked if the responsible gene is located on the X chromosome. The X chromosome is one of the two sex chromosomes (the other sex chromosome is the Y chromosome). Females have two X chromosomes in each cell and males have an X chromosome and a Y chromosome in each cell. Although females have two X chromosomes, one of the X chromosomes in each cell is "turned off" and all of the genes on that chromosome are inactivated. Females who have a change (mutation) in a gene on one of their X chromosomes are called carriers of the related condition. Carrier females usually do not have symptoms of the condition because the X chromosome with the mutated gene is often turned off and they have another X chromosome with a working copy of the gene. Sometimes, the X chromosome with the working copy of the gene is turned off, which may cause symptoms of the condition. However, females with symptoms are usually much more mildly affected than males. A male has only one X chromosome, so if he inherits a mutation on the X chromosome, he will have signs and symptoms (be affected). Males with an X-linked recessive condition always pass the mutated gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome to male offspring. Female carriers of an X-linked recessive condition have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have an affected son, and a 25% chance to have an unaffected son. This also means that each daughter of a carrier mother has a 50% chance of being a carrier, and each son has a 50% chance of having the condition. + GARD + Hydrocephalus due to congenital stenosis of aqueduct of sylvius
How to diagnose Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
How is hydrocephalus due to congenital stenosis of aqueduct of sylvius diagnosed? A diagnosis of hydrocephalus due to congenital stenosis of aqueduct of sylvius is typically suspected based on the presence of characteristic signs and symptoms on physical examination and/or brain imaging (i.e. CT scan, MRI scan). Identification of a change (mutation) in the L1CAM gene can be used to confirm the diagnosis. + GARD + Hydrocephalus due to congenital stenosis of aqueduct of sylvius
What are the treatments for Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
How might hydrocephalus due to congenital stenosis of aqueduct of sylvius be treated? The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. Special education and early intervention may be recommended for children with intellectual disability. Although intervention is rarely necessary for adducted thumbs (bent towards the palms), tendon transfer surgery or splinting may be suggested in some cases. + GARD + Hydrocephalus due to congenital stenosis of aqueduct of sylvius
What are the symptoms of Mental retardation X-linked, South African type ?
What are the signs and symptoms of Mental retardation X-linked, South African type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked, South African type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Decreased body weight 90% Incoordination 90% Long face 90% Macrotia 90% Narrow face 90% Neurological speech impairment 90% Seizures 90% Strabismus 90% Thick eyebrow 90% Adducted thumb 50% Aplasia/Hypoplasia of the corpus callosum 50% Autism 50% Cerebral cortical atrophy 50% Feeding difficulties in infancy 50% Gait disturbance 50% Microcephaly 50% Nystagmus 50% Ophthalmoparesis 50% Pectus excavatum 50% Ventriculomegaly 50% Deeply set eye 7.5% Joint hypermobility 7.5% Mandibular prognathia 7.5% Skeletal muscle atrophy 7.5% Abnormality of the foot - Absent speech - Bowel incontinence - Cerebellar atrophy - Drooling - Dysphagia - Flexion contracture - Happy demeanor - Hyperkinesis - Intellectual disability, progressive - Intellectual disability, severe - Long nose - Loss of ability to walk in first decade - Muscular hypotonia - Mutism - Narrow chest - Neuronal loss in central nervous system - Open mouth - Ophthalmoplegia - Photosensitive tonic-clonic seizures - Sleep disturbance - Slender finger - Truncal ataxia - Urinary incontinence - X-linked dominant 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. + GARD + Mental retardation X-linked, South African type
What is (are) Apocrine carcinoma ?
Apocrine carcinoma is a cancer of a sweat gland.  Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body.  The cause of apocrine carcinoma is unknown.  Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in color and slowly increases in size.  The average age at the time of diagnosis is 62 years of age, and twice as many men are affected than women.  Most apocrine carcinomas can be treated and are not fatal.  Treatment of apocrine carcinoma is surgery to remove as much of the cancer as possible.  Additional treatments such as radiation therapy and chemotherapy have been used to treat this condition, but the usefulness of these treatments is unproven. + GARD + Apocrine carcinoma
What is (are) Serpiginous choroiditis ?
Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years. Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue. Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in one or both eyes when the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications. + GARD + Serpiginous choroiditis
What causes Serpiginous choroiditis ?
What causes serpiginous choroiditis? The cause of serpiginous choroiditis is unknown. Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents. Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process. + GARD + Serpiginous choroiditis
Is Serpiginous choroiditis inherited ?
Can I inherit serpiginous choroiditis if my mother has the condition? No familial predillection or propensity has been described. + GARD + Serpiginous choroiditis
What are the treatments for Serpiginous choroiditis ?
Is there any treatment for serpiginous choroiditis? There are a few treatment options for individuals with serpiginous choroiditis. Treatment may involve an anti-inflammatory medication, such as prednisone, or an immune system suppressing combination of prednisone, cyclosporine, and azathioprine. Additionally, the role of cyclosporine alone has been investigated. These treatments may be administered for a long period of time to prevent recurrences. A serious complication of serpiginous choroiditis is choroidal neovascularization. Laser photocoagulation or surgery may be helpful in some of these cases. + GARD + Serpiginous choroiditis
What is (are) Zellweger spectrum ?
Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual. + GARD + Zellweger spectrum
What are the symptoms of Lopes Gorlin syndrome ?
What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin 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) Distichiasis 90% Photophobia 50% Absent lower eyelashes - Autosomal dominant inheritance - Hypoplasia of the lower eyelids - 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 + Lopes Gorlin syndrome
What are the symptoms of N syndrome ?
What are the signs and symptoms of N syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for N 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 chromosome stability 90% Acute leukemia 90% Cognitive impairment 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Hypertonia 90% Megalocornea 90% Sensorineural hearing impairment 90% Visual impairment 90% Hearing impairment - Hypospadias - Intellectual disability - Neoplasm - Spasticity - X-linked 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. + GARD + N syndrome