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<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) keratoderma with woolly hair ?<|im_end|>
<|im_start|>assistant
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by keratoderma with woolly hair ?<|im_end|>
<|im_start|>assistant
Keratoderma with woolly hair is rare; its prevalence worldwide is unknown. Type I (Naxos disease) was first described in families from the Gr... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to keratoderma with woolly hair ?<|im_end|>
<|im_start|>assistant
Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. The JUP, DSP, an... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is keratoderma with woolly hair inherited ?<|im_end|>
<|im_start|>assistant
Most cases of keratoderma with woolly hair have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. T... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for keratoderma with woolly hair ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of keratoderma with woolly hair: - Gene Review: Gene Review: Arrhythmogenic Right Ventricular... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) Knobloch syndrome ?<|im_end|>
<|im_start|>assistant
Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by Knobloch syndrome ?<|im_end|>
<|im_start|>assistant
Knobloch syndrome is a rare condition. However, the exact prevalence of the condition is unknown.<|im_end|>
<|im_start|>assistant
|
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to Knobloch syndrome ?<|im_end|>
<|im_start|>assistant
Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII,... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is Knobloch syndrome inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosom... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for Knobloch syndrome ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of Knobloch syndrome: - American Academy of Ophthalmology: Eye Smart - Genetic Testing Registry: Knoblo... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) coloboma ?<|im_end|>
<|im_start|>assistant
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of severa... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by coloboma ?<|im_end|>
<|im_start|>assistant
Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this co... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to coloboma ?<|im_end|>
<|im_start|>assistant
Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure (also known as ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is coloboma inherited ?<|im_end|>
<|im_start|>assistant
Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on t... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for coloboma ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of coloboma: - Genetic Testing Registry: Congenital ocular coloboma - Genetic Testing Registry: Microphthalmia, ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) lacrimo-auriculo-dento-digital syndrome ?<|im_end|>
<|im_start|>assistant
Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is character... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by lacrimo-auriculo-dento-digital syndrome ?<|im_end|>
<|im_start|>assistant
LADD syndrome appears to be a rare condition; at least 60 cases have been described in the scientific literature.<|im_end|>
<|im_st... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to lacrimo-auriculo-dento-digital syndrome ?<|im_end|>
<|im_start|>assistant
Mutations in the FGFR2, FGFR3, or FGF10 gene can cause LADD syndrome. The FGFR2 and FGFR3 genes provide instructions for m... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is lacrimo-auriculo-dento-digital syndrome inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal dominant pattern, which means a mutation in one copy of the FGFR2, FGFR3, or FGF10 gene in each cell is su... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for lacrimo-auriculo-dento-digital syndrome ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome: - American Academy of Ophthalmology: T... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) spinocerebellar ataxia type 3 ?<|im_end|>
<|im_start|>assistant
Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience proble... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by spinocerebellar ataxia type 3 ?<|im_end|>
<|im_start|>assistant
The prevalence of SCA3 is unknown. This condition is thought to be the most common type of spinocerebellar ataxia; however, all types of spin... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to spinocerebellar ataxia type 3 ?<|im_end|>
<|im_start|>assistant
Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is spinocerebellar ataxia type 3 inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for spinocerebellar ataxia type 3 ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of SCA3: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 3 - Genetic Testing Regist... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) pilomatricoma ?<|im_end|>
<|im_start|>assistant
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by pilomatricoma ?<|im_end|>
<|im_start|>assistant
Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but pilomatricoma probably accounts for less than 1 percent of all benign skin tumors.<|... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to pilomatricoma ?<|im_end|>
<|im_start|>assistant
Mutations in the CTNNB1 gene are found in almost all cases of isolated pilomatricoma. These mutations are somatic, which means they are acquired duri... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is pilomatricoma inherited ?<|im_end|>
<|im_start|>assistant
Most people with isolated pilomatricoma do not have any other affected family members. However, rare families with multiple affected members have been reported. In these cases,... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for pilomatricoma ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of pilomatricoma: - Genetic Testing Registry: Pilomatrixoma These resources from MedlinePlus offer informa... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) Stickler syndrome ?<|im_end|>
<|im_start|>assistant
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs an... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by Stickler syndrome ?<|im_end|>
<|im_start|>assistant
Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition.<|im_end|>
<|im_start|>assistant
|
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to Stickler syndrome ?<|im_end|>
<|im_start|>assistant
Mutations in several genes cause the different types of Stickler syndrome. Between 80 and 90 percent of all cases are classified as type I and ar... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is Stickler syndrome inherited ?<|im_end|>
<|im_start|>assistant
Stickler syndrome types I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the diso... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for Stickler syndrome ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of Stickler syndrome: - Gene Review: Gene Review: Stickler Syndrome - Genetic Testing Registry: Marshal... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?<|im_end|>
<|im_start|>assistant
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?<|im_end|>
<|im_start|>assistant
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare disorder. It has been diagnosed... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?<|im_end|>
<|im_start|>assistant
T-cell immunodeficiency, congenital alopecia, and nail dystrophy results from mutations in the FOX... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is T-cell immunodeficiency, congenital alopecia, and nail dystrophy inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutation... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of T-cell immunodeficiency, congenital alopecia, and nail ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) Timothy syndrome ?<|im_end|>
<|im_start|>assistant
Timothy syndrome is a rare disorder that affects many parts of the body including the heart, digits (fingers and toes), and the nervous system. Timothy syndrome is charact... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by Timothy syndrome ?<|im_end|>
<|im_start|>assistant
Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears t... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to Timothy syndrome ?<|im_end|>
<|im_start|>assistant
Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein tha... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is Timothy syndrome inherited ?<|im_end|>
<|im_start|>assistant
This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered CACNA1C gene in each cell is sufficient to cause the d... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for Timothy syndrome ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of Timothy syndrome: - Gene Review: Gene Review: Timothy Syndrome - Genetic Testing Registry: Timothy sy... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) trisomy 18 ?<|im_end|>
<|im_start|>assistant
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth b... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by trisomy 18 ?<|im_end|>
<|im_start|>assistant
Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in pregnancy, but many affected fetuses do not survive to term. Although women of all... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to trisomy 18 ?<|im_end|>
<|im_start|>assistant
Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic ma... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is trisomy 18 inherited ?<|im_end|>
<|im_start|>assistant
Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reprodu... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for trisomy 18 ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) Aicardi-Goutieres syndrome ?<|im_end|>
<|im_start|>assistant
Aicardi-Goutieres syndrome is a disorder that mainly affects the brain, the immune system, and the skin. Most newborns with Aicardi-Goutieres syndrome do not sho... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by Aicardi-Goutieres syndrome ?<|im_end|>
<|im_start|>assistant
Aicardi-Goutieres syndrome is a rare disorder. Its exact prevalence is unknown.<|im_end|>
<|im_start|>assistant
|
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to Aicardi-Goutieres syndrome ?<|im_end|>
<|im_start|>assistant
Mutations in the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have been identified in people with Aicardi-Goutieres syndrome. ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is Aicardi-Goutieres syndrome inherited ?<|im_end|>
<|im_start|>assistant
Aicardi-Goutieres syndrome can have different inheritance patterns. In most cases it is inherited in an autosomal recessive pattern, which means both copies of the... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for Aicardi-Goutieres syndrome ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of Aicardi-Goutieres syndrome: - Gene Review: Gene Review: Aicardi-Goutieres Syndrome - Geneti... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) Aarskog-Scott syndrome ?<|im_end|>
<|im_start|>assistant
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mi... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by Aarskog-Scott syndrome ?<|im_end|>
<|im_start|>assistant
Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed.... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to Aarskog-Scott syndrome ?<|im_end|>
<|im_start|>assistant
Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns o... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is Aarskog-Scott syndrome inherited ?<|im_end|>
<|im_start|>assistant
Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two s... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for Aarskog-Scott syndrome ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of Aarskog-Scott syndrome: - Genetic Testing Registry: Aarskog syndrome - MedlinePlus Encyclopedia... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) Pallister-Hall syndrome ?<|im_end|>
<|im_start|>assistant
Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydac... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by Pallister-Hall syndrome ?<|im_end|>
<|im_start|>assistant
This condition is very rare; its prevalence is unknown.<|im_end|>
<|im_start|>assistant
|
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to Pallister-Hall syndrome ?<|im_end|>
<|im_start|>assistant
Mutations in the GLI3 gene cause Pallister-Hall syndrome. The GLI3 gene provides instructions for making a protein that controls gene expr... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is Pallister-Hall syndrome inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for Pallister-Hall syndrome ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of Pallister-Hall syndrome: - Gene Review: Gene Review: Pallister-Hall Syndrome - Genetic Testing... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) Parkinson disease ?<|im_end|>
<|im_start|>assistant
Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that c... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by Parkinson disease ?<|im_end|>
<|im_start|>assistant
Parkinson disease affects more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease o... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to Parkinson disease ?<|im_end|>
<|im_start|>assistant
Most cases of Parkinson disease probably result from a complex interaction of environmental and genetic factors. These cases are classified as sp... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is Parkinson disease inherited ?<|im_end|>
<|im_start|>assistant
Most cases of Parkinson disease occur in people with no apparent family history of the disorder. These sporadic cases may not be inherited, or they may have an inheritance ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for Parkinson disease ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of Parkinson disease: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) ADCY5-related dyskinesia ?<|im_end|>
<|im_start|>assistant
ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by ADCY5-related dyskinesia ?<|im_end|>
<|im_start|>assistant
The prevalence of ADCY5-related dyskinesia is unknown. At least 50 affected individuals have been described in the medical literature.<|im_end|>
<... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to ADCY5-related dyskinesia ?<|im_end|>
<|im_start|>assistant
As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enz... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is ADCY5-related dyskinesia inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cas... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for ADCY5-related dyskinesia ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of ADCY5-related dyskinesia: - Gene Review: Gene Review: ADCY5-Related Dyskinesia - Genetic Test... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) proopiomelanocortin deficiency ?<|im_end|>
<|im_start|>assistant
Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by proopiomelanocortin deficiency ?<|im_end|>
<|im_start|>assistant
POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature.<|im_end|>
<|im_start|>assistant
|
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to proopiomelanocortin deficiency ?<|im_end|>
<|im_start|>assistant
POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. Thi... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is proopiomelanocortin deficiency inherited ?<|im_end|>
<|im_start|>assistant
POMC deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual w... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for proopiomelanocortin deficiency ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of proopiomelanocortin deficiency: - Eunice Kennedy Shriver National Institute of Child Hea... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) primary ciliary dyskinesia ?<|im_end|>
<|im_start|>assistant
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have c... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by primary ciliary dyskinesia ?<|im_end|>
<|im_start|>assistant
Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals.<|im_end|>
<|im_start|>assistant
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<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to primary ciliary dyskinesia ?<|im_end|>
<|im_start|>assistant
Primary ciliary dyskinesia can result from mutations in many different genes. These genes provide instructions for making proteins that ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is primary ciliary dyskinesia inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with a... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for primary ciliary dyskinesia ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of primary ciliary dyskinesia: - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Geneti... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) Pompe disease ?<|im_end|>
<|im_start|>assistant
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by Pompe disease ?<|im_end|>
<|im_start|>assistant
Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.<|im_end|>
<|im_star... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to Pompe disease ?<|im_end|>
<|im_start|>assistant
Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known a... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is Pompe disease inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal r... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for Pompe disease ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of Pompe disease: - Baby's First Test - Gene Review: Gene Review: Glycogen Storage Disease Type II (Pompe D... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) capillary malformation-arteriovenous malformation syndrome ?<|im_end|>
<|im_start|>assistant
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's comp... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by capillary malformation-arteriovenous malformation syndrome ?<|im_end|>
<|im_start|>assistant
CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. The prevalence of the co... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to capillary malformation-arteriovenous malformation syndrome ?<|im_end|>
<|im_start|>assistant
CM-AVM is caused by mutations in the RASA1 gene. This gene provides instructions for making a protein kn... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is capillary malformation-arteriovenous malformation syndrome inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient t... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for capillary malformation-arteriovenous malformation syndrome ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of CM-AVM: - Gene Review: Gene Review: RASA1-Related Disorders ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What is (are) Chediak-Higashi syndrome ?<|im_end|>
<|im_start|>assistant
Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
How many people are affected by Chediak-Higashi syndrome ?<|im_end|>
<|im_start|>assistant
Chediak-Higashi syndrome is a rare disorder. About 200 cases of the condition have been reported worldwide.<|im_end|>
<|im_start|>assistant
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<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the genetic changes related to Chediak-Higashi syndrome ?<|im_end|>
<|im_start|>assistant
Chediak-Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein known as the lysoso... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
Is Chediak-Higashi syndrome inherited ?<|im_end|>
<|im_start|>assistant
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an ... |
<|im_start|>system
You are a helpful assistant chatbot.<|im_end|>
<|im_start|>user
What are the treatments for Chediak-Higashi syndrome ?<|im_end|>
<|im_start|>assistant
These resources address the diagnosis or management of Chediak-Higashi syndrome: - Gene Review: Gene Review: Chediak-Higashi Syndrome - Genetic Test... |
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