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The dataset generation failed
Error code: DatasetGenerationError
Exception: TypeError
Message: Couldn't cast array of type string to null
Traceback: Traceback (most recent call last):
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1831, in _prepare_split_single
writer.write_table(table)
File "/usr/local/lib/python3.12/site-packages/datasets/arrow_writer.py", line 714, in write_table
pa_table = table_cast(pa_table, self._schema)
^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 2272, in table_cast
return cast_table_to_schema(table, schema)
^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 2224, in cast_table_to_schema
cast_array_to_feature(
File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 1795, in wrapper
return pa.chunked_array([func(chunk, *args, **kwargs) for chunk in array.chunks])
^^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 2086, in cast_array_to_feature
return array_cast(
^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 1797, in wrapper
return func(array, *args, **kwargs)
^^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 1948, in array_cast
raise TypeError(f"Couldn't cast array of type {_short_str(array.type)} to {_short_str(pa_type)}")
TypeError: Couldn't cast array of type string to null
The above exception was the direct cause of the following exception:
Traceback (most recent call last):
File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 1455, in compute_config_parquet_and_info_response
parquet_operations = convert_to_parquet(builder)
^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 1054, in convert_to_parquet
builder.download_and_prepare(
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 894, in download_and_prepare
self._download_and_prepare(
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 970, in _download_and_prepare
self._prepare_split(split_generator, **prepare_split_kwargs)
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1702, in _prepare_split
for job_id, done, content in self._prepare_split_single(
^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1858, in _prepare_split_single
raise DatasetGenerationError("An error occurred while generating the dataset") from e
datasets.exceptions.DatasetGenerationError: An error occurred while generating the datasetNeed help to make the dataset viewer work? Make sure to review how to configure the dataset viewer, and open a discussion for direct support.
id string | question string | answer string | url string | type string | focus string | category null | document_id string | document_source string | umls_cui string | umls_semantic_types string | umls_semantic_group string | synonyms string |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
0000559-1 | What is (are) keratoderma with woolly hair ? | 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 heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The wool... | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | information | keratoderma with woolly hair | null | 0000559 | GHR | C0343073 | T047 | Disorders | KWWH |
0000559-2 | How many people are affected by keratoderma with woolly hair ? | Keratoderma with woolly hair is rare; its prevalence worldwide is unknown. Type I (Naxos disease) was first described in families from the Greek island of Naxos. Since then, affected families have been found in other Greek islands, Turkey, and the Middle East. This form of the condition may affect up to 1 in 1,000 peo... | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | frequency | keratoderma with woolly hair | null | 0000559 | GHR | C0343073 | T047 | Disorders | KWWH |
0000559-3 | What are the genetic changes related to keratoderma with woolly hair ? | Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. The JUP, DSP, and DSC2 genes provide instructions for making components of specialized cell structures called desmosomes. Desmosomes are located in the membrane surrounding certain cells, including skin... | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | genetic changes | keratoderma with woolly hair | null | 0000559 | GHR | C0343073 | T047 | Disorders | KWWH |
0000559-4 | Is keratoderma with woolly hair inherited ? | 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. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of t... | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | inheritance | keratoderma with woolly hair | null | 0000559 | GHR | C0343073 | T047 | Disorders | KWWH |
0000559-5 | What are the treatments for keratoderma with woolly hair ? | These resources address the diagnosis or management of keratoderma with woolly hair: - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11 ... | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | treatment | keratoderma with woolly hair | null | 0000559 | GHR | C0343073 | T047 | Disorders | KWWH |
0000565-1 | What is (are) Knobloch syndrome ? | Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal d... | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | information | Knobloch syndrome | null | 0000565 | GHR | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele |
0000565-2 | How many people are affected by Knobloch syndrome ? | Knobloch syndrome is a rare condition. However, the exact prevalence of the condition is unknown. | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | frequency | Knobloch syndrome | null | 0000565 | GHR | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele |
0000565-3 | What are the genetic changes related to Knobloch syndrome ? | Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII, which is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues. ... | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | genetic changes | Knobloch syndrome | null | 0000565 | GHR | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele |
0000565-4 | Is Knobloch syndrome inherited ? | 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 recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | inheritance | Knobloch syndrome | null | 0000565 | GHR | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele |
0000565-5 | What are the treatments for Knobloch syndrome ? | These resources address the diagnosis or management of Knobloch syndrome: - American Academy of Ophthalmology: Eye Smart - Genetic Testing Registry: Knobloch syndrome 1 - JAMA Patient Page: Retinal Detachment - National Eye Institute: Facts About Retinal Detachment - Prevent Blindness America: Retinal Tears and De... | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | treatment | Knobloch syndrome | null | 0000565 | GHR | C1849409 | T019|T047 | Disorders | retinal detachment and occipital encephalocele |
0000203-1 | What is (are) coloboma ? | 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 several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that ... | https://ghr.nlm.nih.gov/condition/coloboma | information | coloboma | null | 0000203 | GHR | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma |
0000203-2 | How many people are affected by coloboma ? | 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 condition are likely undiagnosed. | https://ghr.nlm.nih.gov/condition/coloboma | frequency | coloboma | null | 0000203 | GHR | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma |
0000203-3 | What are the genetic changes related to coloboma ? | 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 the choroidal fissure or embryonic fissure) closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma. The ... | https://ghr.nlm.nih.gov/condition/coloboma | genetic changes | coloboma | null | 0000203 | GHR | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma |
0000203-4 | Is coloboma inherited ? | 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 to his or her own children. In cases when it is passed down in families, coloboma can have different inheritance patterns. Isolated colobom... | https://ghr.nlm.nih.gov/condition/coloboma | inheritance | coloboma | null | 0000203 | GHR | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma |
0000203-5 | What are the treatments for coloboma ? | These resources address the diagnosis or management of coloboma: - Genetic Testing Registry: Congenital ocular coloboma - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2 - Genetic Testing Registry: Microphthalmia, isolated, wi... | https://ghr.nlm.nih.gov/condition/coloboma | treatment | coloboma | null | 0000203 | GHR | C0009363 | T019 | Disorders | congenital ocular coloboma|microphthalmia, isolated, with coloboma|ocular coloboma|uveoretinal coloboma |
0000571-1 | What is (are) lacrimo-auriculo-dento-digital syndrome ? | Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital). The l... | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | information | lacrimo-auriculo-dento-digital syndrome | null | 0000571 | GHR | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome |
0000571-2 | How many people are affected by lacrimo-auriculo-dento-digital syndrome ? | LADD syndrome appears to be a rare condition; at least 60 cases have been described in the scientific literature. | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | frequency | lacrimo-auriculo-dento-digital syndrome | null | 0000571 | GHR | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome |
0000571-3 | What are the genetic changes related to lacrimo-auriculo-dento-digital syndrome ? | Mutations in the FGFR2, FGFR3, or FGF10 gene can cause LADD syndrome. The FGFR2 and FGFR3 genes provide instructions for making proteins that are part of a family called fibroblast growth factor receptors. The FGF10 gene provides instructions for making a protein called a fibroblast growth factor, which is a family of... | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | genetic changes | lacrimo-auriculo-dento-digital syndrome | null | 0000571 | GHR | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome |
0000571-4 | Is lacrimo-auriculo-dento-digital syndrome inherited ? | 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 sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and o... | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | inheritance | lacrimo-auriculo-dento-digital syndrome | null | 0000571 | GHR | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome |
0000571-5 | What are the treatments for lacrimo-auriculo-dento-digital syndrome ? | These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome: - American Academy of Ophthalmology: The Tearing Patient - Cincinnati Children's Hospital: Tear Duct Probing and Irrigation - Cleveland Clinic: Dry Eyes - Cleveland Clinic: Dry Mouth Treatment - Genetic Testing Registry... | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | treatment | lacrimo-auriculo-dento-digital syndrome | null | 0000571 | GHR | C0265269 | T047 | Disorders | lacrimoauriculodentodigital syndrome|LADD syndrome|Levy-Hollister syndrome |
0000940-1 | What is (are) spinocerebellar ataxia type 3 ? | Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle sti... | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | information | spinocerebellar ataxia type 3 | null | 0000940 | GHR | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 |
0000940-2 | How many people are affected by spinocerebellar ataxia type 3 ? | The prevalence of SCA3 is unknown. This condition is thought to be the most common type of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | frequency | spinocerebellar ataxia type 3 | null | 0000940 | GHR | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 |
0000940-3 | What are the genetic changes related to spinocerebellar ataxia type 3 ? | Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin is a... | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | genetic changes | spinocerebellar ataxia type 3 | null | 0000940 | GHR | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 |
0000940-4 | Is spinocerebellar ataxia type 3 inherited ? | 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 cases, an affected person has one parent with the condition. As the altered ATXN3 gene is passed down from one generation to the next, the length of the CAG t... | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | inheritance | spinocerebellar ataxia type 3 | null | 0000940 | GHR | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 |
0000940-5 | What are the treatments for spinocerebellar ataxia type 3 ? | These resources address the diagnosis or management of SCA3: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 3 - Genetic Testing Registry: Azorean disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | treatment | spinocerebellar ataxia type 3 | null | 0000940 | GHR | C0024408 | T047 | Disorders | Azorean ataxia|Azorean disease|Machado-Joseph disease|MJD|SCA3 |
0000798-1 | What is (are) pilomatricoma ? | 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 where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pi... | https://ghr.nlm.nih.gov/condition/pilomatricoma | information | pilomatricoma | null | 0000798 | GHR | C0206711 | T191 | Disorders | benign pilomatricoma|benign pilomatrixoma|calcifying epithelioma of Malherbe|Malherbe calcifying epithelioma|pilomatrixoma |
0000798-2 | How many people are affected by pilomatricoma ? | Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but pilomatricoma probably accounts for less than 1 percent of all benign skin tumors. | https://ghr.nlm.nih.gov/condition/pilomatricoma | frequency | pilomatricoma | null | 0000798 | GHR | C0206711 | T191 | Disorders | benign pilomatricoma|benign pilomatrixoma|calcifying epithelioma of Malherbe|Malherbe calcifying epithelioma|pilomatrixoma |
0000798-3 | What are the genetic changes related to pilomatricoma ? | Mutations in the CTNNB1 gene are found in almost all cases of isolated pilomatricoma. These mutations are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Somatic mutations are not inherited. The CTNNB1 gene provides instructions for making a protein called beta-ca... | https://ghr.nlm.nih.gov/condition/pilomatricoma | genetic changes | pilomatricoma | null | 0000798 | GHR | C0206711 | T191 | Disorders | benign pilomatricoma|benign pilomatrixoma|calcifying epithelioma of Malherbe|Malherbe calcifying epithelioma|pilomatrixoma |
0000798-4 | Is pilomatricoma inherited ? | 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, the inheritance pattern of the condition (if any) is unknown. | https://ghr.nlm.nih.gov/condition/pilomatricoma | inheritance | pilomatricoma | null | 0000798 | GHR | C0206711 | T191 | Disorders | benign pilomatricoma|benign pilomatrixoma|calcifying epithelioma of Malherbe|Malherbe calcifying epithelioma|pilomatrixoma |
0000798-5 | What are the treatments for pilomatricoma ? | These resources address the diagnosis or management of pilomatricoma: - Genetic Testing Registry: Pilomatrixoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling ... | https://ghr.nlm.nih.gov/condition/pilomatricoma | treatment | pilomatricoma | null | 0000798 | GHR | C0206711 | T191 | Disorders | benign pilomatricoma|benign pilomatrixoma|calcifying epithelioma of Malherbe|Malherbe calcifying epithelioma|pilomatrixoma |
0000954-1 | What is (are) Stickler syndrome ? | Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This app... | https://ghr.nlm.nih.gov/condition/stickler-syndrome | information | Stickler syndrome | null | 0000954 | GHR | C0265253 | T047 | Disorders | hereditary arthro-ophthalmo-dystrophy|hereditary arthro-ophthalmopathy|Stickler dysplasia |
0000954-2 | How many people are affected by Stickler syndrome ? | Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition. | https://ghr.nlm.nih.gov/condition/stickler-syndrome | frequency | Stickler syndrome | null | 0000954 | GHR | C0265253 | T047 | Disorders | hereditary arthro-ophthalmo-dystrophy|hereditary arthro-ophthalmopathy|Stickler dysplasia |
0000954-3 | What are the genetic changes related to Stickler syndrome ? | 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 are caused by mutations in the COL2A1 gene. Another 10 to 20 percent of cases are classified as type II and result from mutations in the COL11A1 gene. Marshall syndrome, which m... | https://ghr.nlm.nih.gov/condition/stickler-syndrome | genetic changes | Stickler syndrome | null | 0000954 | GHR | C0265253 | T047 | Disorders | hereditary arthro-ophthalmo-dystrophy|hereditary arthro-ophthalmopathy|Stickler dysplasia |
0000954-4 | Is Stickler syndrome inherited ? | 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 disorder. In some cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations. These cases occur ... | https://ghr.nlm.nih.gov/condition/stickler-syndrome | inheritance | Stickler syndrome | null | 0000954 | GHR | C0265253 | T047 | Disorders | hereditary arthro-ophthalmo-dystrophy|hereditary arthro-ophthalmopathy|Stickler dysplasia |
0000954-5 | What are the treatments for Stickler syndrome ? | These resources address the diagnosis or management of Stickler syndrome: - Gene Review: Gene Review: Stickler Syndrome - Genetic Testing Registry: Marshall syndrome - Genetic Testing Registry: Stickler syndrome - MedlinePlus Encyclopedia: Pierre Robin Syndrome - Merck Manual Consumer Version: Detachment of the Re... | https://ghr.nlm.nih.gov/condition/stickler-syndrome | treatment | Stickler syndrome | null | 0000954 | GHR | C0265253 | T047 | Disorders | hereditary arthro-ophthalmo-dystrophy|hereditary arthro-ophthalmopathy|Stickler dysplasia |
0000968-1 | What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune ... | https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy | information | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | null | 0000968 | GHR | C1274233|C0265992|C0221260 | T019|T047 | Disorders | alymphoid cystic thymic dysgenesis|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|winged helix deficiency |
0000968-2 | How many people are affected by T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare disorder. It has been diagnosed in only a few individuals, almost all of whom are members of a large extended family from a community in southern Italy. | https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy | frequency | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | null | 0000968 | GHR | C1274233|C0265992|C0221260 | T019|T047 | Disorders | alymphoid cystic thymic dysgenesis|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|winged helix deficiency |
0000968-3 | What are the genetic changes related to T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy results from mutations in the FOXN1 gene. This gene provides instructions for making a protein that is important for development of the skin, hair, nails, and immune system. Studies suggest that this protein helps guide the formation of hair follicles and... | https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy | genetic changes | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | null | 0000968 | GHR | C1274233|C0265992|C0221260 | T019|T047 | Disorders | alymphoid cystic thymic dysgenesis|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|winged helix deficiency |
0000968-4 | Is T-cell immunodeficiency, congenital alopecia, and nail dystrophy inherited ? | 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 recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, some pe... | https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy | inheritance | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | null | 0000968 | GHR | C1274233|C0265992|C0221260 | T019|T047 | Disorders | alymphoid cystic thymic dysgenesis|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|winged helix deficiency |
0000968-5 | What are the treatments for T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | These resources address the diagnosis or management of T-cell immunodeficiency, congenital alopecia, and nail dystrophy: - Be The Match: What is a Bone Marrow Transplant? - Genetic Testing Registry: T-cell immunodeficiency, congenital alopecia and nail dystrophy - MedlinePlus Encyclopedia: Bone Marrow Transplant T... | https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy | treatment | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | null | 0000968 | GHR | C1274233|C0265992|C0221260 | T019|T047 | Disorders | alymphoid cystic thymic dysgenesis|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|winged helix deficiency |
0000983-1 | What is (are) Timothy syndrome ? | 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 characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Th... | https://ghr.nlm.nih.gov/condition/timothy-syndrome | information | Timothy syndrome | null | 0000983 | GHR | C1832916 | T047 | Disorders | Long QT syndrome with syndactyly|LQT8|TS |
0000983-2 | How many people are affected by Timothy syndrome ? | Timothy syndrome is a rare condition; fewer than 20 people with this disorder have been reported worldwide. The classic type of Timothy syndrome appears to be more common than the atypical type, which has been identified in only two individuals. | https://ghr.nlm.nih.gov/condition/timothy-syndrome | frequency | Timothy syndrome | null | 0000983 | GHR | C1832916 | T047 | Disorders | Long QT syndrome with syndactyly|LQT8|TS |
0000983-3 | What are the genetic changes related to Timothy syndrome ? | Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein that acts as a channel across cell membranes. This channel, known as CaV1.2, is one of several channels that transport positively charged calcium atoms (calcium ions) into cells... | https://ghr.nlm.nih.gov/condition/timothy-syndrome | genetic changes | Timothy syndrome | null | 0000983 | GHR | C1832916 | T047 | Disorders | Long QT syndrome with syndactyly|LQT8|TS |
0000983-4 | Is Timothy syndrome inherited ? | 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 disorder. Most cases result from new mutations in the gene, and occur in people with no history of the disorder in their family. Less commonly, peop... | https://ghr.nlm.nih.gov/condition/timothy-syndrome | inheritance | Timothy syndrome | null | 0000983 | GHR | C1832916 | T047 | Disorders | Long QT syndrome with syndactyly|LQT8|TS |
0000983-5 | What are the treatments for Timothy syndrome ? | These resources address the diagnosis or management of Timothy syndrome: - Gene Review: Gene Review: Timothy Syndrome - Genetic Testing Registry: Timothy syndrome - MedlinePlus Encyclopedia: Arrhythmias - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes ... | https://ghr.nlm.nih.gov/condition/timothy-syndrome | treatment | Timothy syndrome | null | 0000983 | GHR | C1832916 | T047 | Disorders | Long QT syndrome with syndactyly|LQT8|TS |
0000997-1 | What is (are) trisomy 18 ? | 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 before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other o... | https://ghr.nlm.nih.gov/condition/trisomy-18 | information | trisomy 18 | null | 0000997 | GHR | C0152096|C3537048 | T019|T049|T047 | Disorders | complete trisomy 18 syndrome|Edwards syndrome|trisomy 18 syndrome|trisomy E syndrome |
0000997-2 | How many people are affected by trisomy 18 ? | 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 ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older. | https://ghr.nlm.nih.gov/condition/trisomy-18 | frequency | trisomy 18 | null | 0000997 | GHR | C0152096|C3537048 | T019|T049|T047 | Disorders | complete trisomy 18 syndrome|Edwards syndrome|trisomy 18 syndrome|trisomy E syndrome |
0000997-3 | What are the genetic changes related to trisomy 18 ? | 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 material disrupts the normal course of development, causing the characteristic features of trisomy 18. Approximately 5 percent of people with trisomy 18 have an extra co... | https://ghr.nlm.nih.gov/condition/trisomy-18 | genetic changes | trisomy 18 | null | 0000997 | GHR | C0152096|C3537048 | T019|T049|T047 | Disorders | complete trisomy 18 syndrome|Edwards syndrome|trisomy 18 syndrome|trisomy E syndrome |
0000997-4 | Is trisomy 18 inherited ? | 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 reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these... | https://ghr.nlm.nih.gov/condition/trisomy-18 | inheritance | trisomy 18 | null | 0000997 | GHR | C0152096|C3537048 | T019|T049|T047 | Disorders | complete trisomy 18 syndrome|Edwards syndrome|trisomy 18 syndrome|trisomy E syndrome |
0000997-5 | What are the treatments for trisomy 18 ? | These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | https://ghr.nlm.nih.gov/condition/trisomy-18 | treatment | trisomy 18 | null | 0000997 | GHR | C0152096|C3537048 | T019|T049|T047 | Disorders | complete trisomy 18 syndrome|Edwards syndrome|trisomy 18 syndrome|trisomy E syndrome |
0000029-1 | What is (are) Aicardi-Goutieres syndrome ? | 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 show any signs or symptoms of the disorder at birth. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen ... | https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome | information | Aicardi-Goutieres syndrome | null | 0000029 | GHR | C0393591|C0039082|C0796126 | T047 | Disorders | AGS|Aicardi Goutieres syndrome|Cree encephalitis|encephalopathy with basal ganglia calcification|familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|pseudo-TORCH syndrome|pseudotoxoplasmosis syndrome |
0000029-2 | How many people are affected by Aicardi-Goutieres syndrome ? | Aicardi-Goutieres syndrome is a rare disorder. Its exact prevalence is unknown. | https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome | frequency | Aicardi-Goutieres syndrome | null | 0000029 | GHR | C0393591|C0039082|C0796126 | T047 | Disorders | AGS|Aicardi Goutieres syndrome|Cree encephalitis|encephalopathy with basal ganglia calcification|familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|pseudo-TORCH syndrome|pseudotoxoplasmosis syndrome |
0000029-3 | What are the genetic changes related to Aicardi-Goutieres syndrome ? | Mutations in the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have been identified in people with Aicardi-Goutieres syndrome. The TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes provide instructions for making nucleases, which are enzymes that help break up molecules of DNA and its chemical cousin RNA. Mutation... | https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome | genetic changes | Aicardi-Goutieres syndrome | null | 0000029 | GHR | C0393591|C0039082|C0796126 | T047 | Disorders | AGS|Aicardi Goutieres syndrome|Cree encephalitis|encephalopathy with basal ganglia calcification|familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|pseudo-TORCH syndrome|pseudotoxoplasmosis syndrome |
0000029-4 | Is Aicardi-Goutieres syndrome inherited ? | 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 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typic... | https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome | inheritance | Aicardi-Goutieres syndrome | null | 0000029 | GHR | C0393591|C0039082|C0796126 | T047 | Disorders | AGS|Aicardi Goutieres syndrome|Cree encephalitis|encephalopathy with basal ganglia calcification|familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|pseudo-TORCH syndrome|pseudotoxoplasmosis syndrome |
0000029-5 | What are the treatments for Aicardi-Goutieres syndrome ? | These resources address the diagnosis or management of Aicardi-Goutieres syndrome: - Gene Review: Gene Review: Aicardi-Goutieres Syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome - Genetic Testing Registry: Aicardi Goutieres syndrome 1 - Genetic Testing Registry: Aicardi Goutieres syndrome 2 - Geneti... | https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome | treatment | Aicardi-Goutieres syndrome | null | 0000029 | GHR | C0393591|C0039082|C0796126 | T047 | Disorders | AGS|Aicardi Goutieres syndrome|Cree encephalitis|encephalopathy with basal ganglia calcification|familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|pseudo-TORCH syndrome|pseudotoxoplasmosis syndrome |
0000001-1 | What is (are) Aarskog-Scott syndrome ? | 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 mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a sma... | https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome | information | Aarskog-Scott syndrome | null | 0000001 | GHR | C0175701 | T019|T047 | Disorders | Aarskog syndrome|AAS|Facio-digito-genital dysplasia|Faciogenital dysplasia |
0000001-2 | How many people are affected by Aarskog-Scott syndrome ? | Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed. | https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome | frequency | Aarskog-Scott syndrome | null | 0000001 | GHR | C0175701 | T019|T047 | Disorders | Aarskog syndrome|AAS|Facio-digito-genital dysplasia|Faciogenital dysplasia |
0000001-3 | What are the genetic changes related to Aarskog-Scott syndrome ? | Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development. Mutations in the FGD1 gene lead to the product... | https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome | genetic changes | Aarskog-Scott syndrome | null | 0000001 | GHR | C0175701 | T019|T047 | Disorders | Aarskog syndrome|AAS|Facio-digito-genital dysplasia|Faciogenital dysplasia |
0000001-4 | Is Aarskog-Scott syndrome inherited ? | 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 sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (wh... | https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome | inheritance | Aarskog-Scott syndrome | null | 0000001 | GHR | C0175701 | T019|T047 | Disorders | Aarskog syndrome|AAS|Facio-digito-genital dysplasia|Faciogenital dysplasia |
0000001-5 | What are the treatments for Aarskog-Scott syndrome ? | These resources address the diagnosis or management of Aarskog-Scott syndrome: - Genetic Testing Registry: Aarskog syndrome - MedlinePlus Encyclopedia: Aarskog syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... | https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome | treatment | Aarskog-Scott syndrome | null | 0000001 | GHR | C0175701 | T019|T047 | Disorders | Aarskog syndrome|AAS|Facio-digito-genital dysplasia|Faciogenital dysplasia |
0000767-1 | What is (are) Pallister-Hall syndrome ? | 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 (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is ch... | https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome | information | Pallister-Hall syndrome | null | 0000767 | GHR | C0265220 | T047 | Disorders | CAVE complex|cerebroacrovisceral early lethality complex|Hall-Pallister syndrome|hypothalamic hamartoblastoma syndrome|PHS |
0000767-2 | How many people are affected by Pallister-Hall syndrome ? | This condition is very rare; its prevalence is unknown. | https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome | frequency | Pallister-Hall syndrome | null | 0000767 | GHR | C0265220 | T047 | Disorders | CAVE complex|cerebroacrovisceral early lethality complex|Hall-Pallister syndrome|hypothalamic hamartoblastoma syndrome|PHS |
0000767-3 | What are the genetic changes related to Pallister-Hall syndrome ? | Mutations in the GLI3 gene cause Pallister-Hall syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 pr... | https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome | genetic changes | Pallister-Hall syndrome | null | 0000767 | GHR | C0265220 | T047 | Disorders | CAVE complex|cerebroacrovisceral early lethality complex|Hall-Pallister syndrome|hypothalamic hamartoblastoma syndrome|PHS |
0000767-4 | Is Pallister-Hall syndrome inherited ? | 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, an affected person inherits a mutation in the GLI3 gene from one affected parent. Other cases result from new mutations in the gene and occur in people ... | https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome | inheritance | Pallister-Hall syndrome | null | 0000767 | GHR | C0265220 | T047 | Disorders | CAVE complex|cerebroacrovisceral early lethality complex|Hall-Pallister syndrome|hypothalamic hamartoblastoma syndrome|PHS |
0000767-5 | What are the treatments for Pallister-Hall syndrome ? | These resources address the diagnosis or management of Pallister-Hall syndrome: - Gene Review: Gene Review: Pallister-Hall Syndrome - Genetic Testing Registry: Pallister-Hall syndrome - MedlinePlus Encyclopedia: Epiglottis (Image) - MedlinePlus Encyclopedia: Imperforate Anus - MedlinePlus Encyclopedia: Polydactyly... | https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome | treatment | Pallister-Hall syndrome | null | 0000767 | GHR | C0265220 | T047 | Disorders | CAVE complex|cerebroacrovisceral early lethality complex|Hall-Pallister syndrome|hypothalamic hamartoblastoma syndrome|PHS |
0000773-1 | What is (are) Parkinson disease ? | 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 controls balance and movement. Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is a... | https://ghr.nlm.nih.gov/condition/parkinson-disease | information | Parkinson disease | null | 0000773 | GHR | C0030567 | T047 | Disorders | Parkinson's disease|PD|primary parkinsonism |
0000773-2 | How many people are affected by Parkinson disease ? | Parkinson disease affects more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease occurs in approximately 13 per 100,000 people, and about 60,000 new cases are identified each year. The late-onset form is the most common type of Parkinson disease, a... | https://ghr.nlm.nih.gov/condition/parkinson-disease | frequency | Parkinson disease | null | 0000773 | GHR | C0030567 | T047 | Disorders | Parkinson's disease|PD|primary parkinsonism |
0000773-3 | What are the genetic changes related to Parkinson disease ? | Most cases of Parkinson disease probably result from a complex interaction of environmental and genetic factors. These cases are classified as sporadic and occur in people with no apparent history of the disorder in their family. The cause of these sporadic cases remains unclear. Approximately 15 percent of people wit... | https://ghr.nlm.nih.gov/condition/parkinson-disease | genetic changes | Parkinson disease | null | 0000773 | GHR | C0030567 | T047 | Disorders | Parkinson's disease|PD|primary parkinsonism |
0000773-4 | Is Parkinson disease inherited ? | 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 pattern that is unknown. Among familial cases of Parkinson disease, the inheritance pattern differs depending on the gene that is altered. If the L... | https://ghr.nlm.nih.gov/condition/parkinson-disease | inheritance | Parkinson disease | null | 0000773 | GHR | C0030567 | T047 | Disorders | Parkinson's disease|PD|primary parkinsonism |
0000773-5 | What are the treatments for Parkinson disease ? | These resources address the diagnosis or management of Parkinson disease: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Parkinson disease 1 - Genetic Testing Registry: Parkinson disease 10 - Genetic Testing Registry: Parkinson disease 11 - Genetic Testing Registry: Parkinson di... | https://ghr.nlm.nih.gov/condition/parkinson-disease | treatment | Parkinson disease | null | 0000773 | GHR | C0030567 | T047 | Disorders | Parkinson's disease|PD|primary parkinsonism |
0000015-1 | What is (are) ADCY5-related dyskinesia ? | ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect t... | https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia | information | ADCY5-related dyskinesia | null | 0000015 | GHR | C0013384 | T047 | Disorders | familial dyskinesia with facial myokymia|FDFM |
0000015-2 | How many people are affected by ADCY5-related dyskinesia ? | The prevalence of ADCY5-related dyskinesia is unknown. At least 50 affected individuals have been described in the medical literature. | https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia | frequency | ADCY5-related dyskinesia | null | 0000015 | GHR | C0013384 | T047 | Disorders | familial dyskinesia with facial myokymia|FDFM |
0000015-3 | What are the genetic changes related to ADCY5-related dyskinesia ? | As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a mo... | https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia | genetic changes | ADCY5-related dyskinesia | null | 0000015 | GHR | C0013384 | T047 | Disorders | familial dyskinesia with facial myokymia|FDFM |
0000015-4 | Is ADCY5-related dyskinesia inherited ? | 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, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia | inheritance | ADCY5-related dyskinesia | null | 0000015 | GHR | C0013384 | T047 | Disorders | familial dyskinesia with facial myokymia|FDFM |
0000015-5 | What are the treatments for ADCY5-related dyskinesia ? | These resources address the diagnosis or management of ADCY5-related dyskinesia: - Gene Review: Gene Review: ADCY5-Related Dyskinesia - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia - National Ataxia Foundation: Movement Disorder Clinics These resources from MedlinePlus offer information abo... | https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia | treatment | ADCY5-related dyskinesia | null | 0000015 | GHR | C0013384 | T047 | Disorders | familial dyskinesia with facial myokymia|FDFM |
0000834-1 | What is (are) proopiomelanocortin deficiency ? | Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. Affected infants are usually a normal weight at birth, but they a... | https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency | information | proopiomelanocortin deficiency | null | 0000834 | GHR | C1857854 | T047 | Disorders | obesity, early-onset, adrenal insufficiency, and red hair|POMC deficiency |
0000834-2 | How many people are affected by proopiomelanocortin deficiency ? | POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature. | https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency | frequency | proopiomelanocortin deficiency | null | 0000834 | GHR | C1857854 | T047 | Disorders | obesity, early-onset, adrenal insufficiency, and red hair|POMC deficiency |
0000834-3 | What are the genetic changes related to proopiomelanocortin deficiency ? | POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cort... | https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency | genetic changes | proopiomelanocortin deficiency | null | 0000834 | GHR | C1857854 | T047 | Disorders | obesity, early-onset, adrenal insufficiency, and red hair|POMC deficiency |
0000834-4 | Is proopiomelanocortin deficiency inherited ? | 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 with this condition each carry one copy of the mutated gene. They typically do not have POMC deficiency, but they may have an increased risk of obesity. | https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency | inheritance | proopiomelanocortin deficiency | null | 0000834 | GHR | C1857854 | T047 | Disorders | obesity, early-onset, adrenal insufficiency, and red hair|POMC deficiency |
0000834-5 | What are the treatments for proopiomelanocortin deficiency ? | These resources address the diagnosis or management of proopiomelanocortin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight Diagnosed? - Gene Review: Gene Review: Proopiomelanocortin Deficiency - Genetic Testing Registry: Proopiomelanocorti... | https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency | treatment | proopiomelanocortin deficiency | null | 0000834 | GHR | C1857854 | T047 | Disorders | obesity, early-onset, adrenal insufficiency, and red hair|POMC deficiency |
0000820-1 | What is (are) primary ciliary dyskinesia ? | Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that... | https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia | information | primary ciliary dyskinesia | null | 0000820 | GHR | C0008780|C0022521 | T019|T047 | Disorders | immotile cilia syndrome|PCD |
0000820-2 | How many people are affected by primary ciliary dyskinesia ? | Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals. | https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia | frequency | primary ciliary dyskinesia | null | 0000820 | GHR | C0008780|C0022521 | T019|T047 | Disorders | immotile cilia syndrome|PCD |
0000820-3 | What are the genetic changes related to primary ciliary dyskinesia ? | Primary ciliary dyskinesia can result from mutations in many different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs an... | https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia | genetic changes | primary ciliary dyskinesia | null | 0000820 | GHR | C0008780|C0022521 | T019|T047 | Disorders | immotile cilia syndrome|PCD |
0000820-4 | Is primary ciliary dyskinesia inherited ? | 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 recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia | inheritance | primary ciliary dyskinesia | null | 0000820 | GHR | C0008780|C0022521 | T019|T047 | Disorders | immotile cilia syndrome|PCD |
0000820-5 | What are the treatments for primary ciliary dyskinesia ? | These resources address the diagnosis or management of primary ciliary dyskinesia: - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Ciliary dyskinesia, primary, 17 - Genetic Testing Registry: Kartagener syndrome - Genetic Testing Registry: Primary ciliary dyskinesia These resourc... | https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia | treatment | primary ciliary dyskinesia | null | 0000820 | GHR | C0008780|C0022521 | T019|T047 | Disorders | immotile cilia syndrome|PCD |
0000808-1 | What is (are) Pompe disease ? | 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, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in sever... | https://ghr.nlm.nih.gov/condition/pompe-disease | information | Pompe disease | null | 0000808 | GHR | C0017921|C0342751 | T019|T047 | Disorders | acid maltase deficiency|acid maltase deficiency disease|alpha-1,4-glucosidase deficiency|AMD|deficiency of alpha-glucosidase|GAA deficiency|glycogen storage disease type II|glycogenosis Type II|GSD II|GSD2|Pompe's disease |
0000808-2 | How many people are affected by Pompe disease ? | Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups. | https://ghr.nlm.nih.gov/condition/pompe-disease | frequency | Pompe disease | null | 0000808 | GHR | C0017921|C0342751 | T019|T047 | Disorders | acid maltase deficiency|acid maltase deficiency disease|alpha-1,4-glucosidase deficiency|AMD|deficiency of alpha-glucosidase|GAA deficiency|glycogen storage disease type II|glycogenosis Type II|GSD II|GSD2|Pompe's disease |
0000808-3 | What are the genetic changes related to Pompe disease ? | Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a sim... | https://ghr.nlm.nih.gov/condition/pompe-disease | genetic changes | Pompe disease | null | 0000808 | GHR | C0017921|C0342751 | T019|T047 | Disorders | acid maltase deficiency|acid maltase deficiency disease|alpha-1,4-glucosidase deficiency|AMD|deficiency of alpha-glucosidase|GAA deficiency|glycogen storage disease type II|glycogenosis Type II|GSD II|GSD2|Pompe's disease |
0000808-4 | Is Pompe disease inherited ? | 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 recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | https://ghr.nlm.nih.gov/condition/pompe-disease | inheritance | Pompe disease | null | 0000808 | GHR | C0017921|C0342751 | T019|T047 | Disorders | acid maltase deficiency|acid maltase deficiency disease|alpha-1,4-glucosidase deficiency|AMD|deficiency of alpha-glucosidase|GAA deficiency|glycogen storage disease type II|glycogenosis Type II|GSD II|GSD2|Pompe's disease |
0000808-5 | What are the treatments for Pompe disease ? | These resources address the diagnosis or management of Pompe disease: - Baby's First Test - Gene Review: Gene Review: Glycogen Storage Disease Type II (Pompe Disease) - Genetic Testing Registry: Glycogen storage disease type II, infantile - Genetic Testing Registry: Glycogen storage disease, type II These resourc... | https://ghr.nlm.nih.gov/condition/pompe-disease | treatment | Pompe disease | null | 0000808 | GHR | C0017921|C0342751 | T019|T047 | Disorders | acid maltase deficiency|acid maltase deficiency disease|alpha-1,4-glucosidase deficiency|AMD|deficiency of alpha-glucosidase|GAA deficiency|glycogen storage disease type II|glycogenosis Type II|GSD II|GSD2|Pompe's disease |
0000149-1 | What is (are) capillary malformation-arteriovenous malformation syndrome ? | Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back t... | https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformation-syndrome | information | capillary malformation-arteriovenous malformation syndrome | null | 0000149 | GHR | C1842180|C0334533|C0003857|C0000768 | T019|T191|T047 | Disorders | capillary malformation-arteriovenous malformation|CM-AVM |
0000149-2 | How many people are affected by capillary malformation-arteriovenous malformation syndrome ? | CM-AVM is thought to occur in at least 1 in 100,000 people of northern European origin. The prevalence of the condition in other populations is unknown. | https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformation-syndrome | frequency | capillary malformation-arteriovenous malformation syndrome | null | 0000149 | GHR | C1842180|C0334533|C0003857|C0000768 | T019|T191|T047 | Disorders | capillary malformation-arteriovenous malformation|CM-AVM |
0000149-3 | What are the genetic changes related to capillary malformation-arteriovenous malformation syndrome ? | CM-AVM is caused by mutations in the RASA1 gene. This gene provides instructions for making a protein known as p120-RasGAP, which is involved in transmitting chemical signals from outside the cell to the nucleus. These signals help control several important cell functions, including cell growth and division (proliferat... | https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformation-syndrome | genetic changes | capillary malformation-arteriovenous malformation syndrome | null | 0000149 | GHR | C1842180|C0334533|C0003857|C0000768 | T019|T191|T047 | Disorders | capillary malformation-arteriovenous malformation|CM-AVM |
0000149-4 | Is capillary malformation-arteriovenous malformation syndrome inherited ? | 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 cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformation-syndrome | inheritance | capillary malformation-arteriovenous malformation syndrome | null | 0000149 | GHR | C1842180|C0334533|C0003857|C0000768 | T019|T191|T047 | Disorders | capillary malformation-arteriovenous malformation|CM-AVM |
0000149-5 | What are the treatments for capillary malformation-arteriovenous malformation syndrome ? | These resources address the diagnosis or management of CM-AVM: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Capillary malformation-arteriovenous malformation These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... | https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformation-syndrome | treatment | capillary malformation-arteriovenous malformation syndrome | null | 0000149 | GHR | C1842180|C0334533|C0003857|C0000768 | T019|T191|T047 | Disorders | capillary malformation-arteriovenous malformation|CM-AVM |
0000175-1 | What is (are) Chediak-Higashi syndrome ? | 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 less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections... | https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome | information | Chediak-Higashi syndrome | null | 0000175 | GHR | C0039082|C0007965 | T047 | Disorders | Chediak-Steinbrinck-Higashi syndrome|CHS|oculocutaneous albinism with leukocyte defect |
0000175-2 | How many people are affected by Chediak-Higashi syndrome ? | Chediak-Higashi syndrome is a rare disorder. About 200 cases of the condition have been reported worldwide. | https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome | frequency | Chediak-Higashi syndrome | null | 0000175 | GHR | C0039082|C0007965 | T047 | Disorders | Chediak-Steinbrinck-Higashi syndrome|CHS|oculocutaneous albinism with leukocyte defect |
0000175-3 | What are the genetic changes related to Chediak-Higashi syndrome ? | Chediak-Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays a role in the transport (trafficking) of materials into structures called lysosomes and similar cell structures... | https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome | genetic changes | Chediak-Higashi syndrome | null | 0000175 | GHR | C0039082|C0007965 | T047 | Disorders | Chediak-Steinbrinck-Higashi syndrome|CHS|oculocutaneous albinism with leukocyte defect |
0000175-4 | Is Chediak-Higashi syndrome inherited ? | 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 recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome | inheritance | Chediak-Higashi syndrome | null | 0000175 | GHR | C0039082|C0007965 | T047 | Disorders | Chediak-Steinbrinck-Higashi syndrome|CHS|oculocutaneous albinism with leukocyte defect |
0000175-5 | What are the treatments for Chediak-Higashi syndrome ? | These resources address the diagnosis or management of Chediak-Higashi syndrome: - Gene Review: Gene Review: Chediak-Higashi Syndrome - Genetic Testing Registry: Chdiak-Higashi syndrome - Immune Deficiency Foundation: Stem Cell and Gene Therapy - International Patient Organisation for Primary Immunodeficiencies (IP... | https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome | treatment | Chediak-Higashi syndrome | null | 0000175 | GHR | C0039082|C0007965 | T047 | Disorders | Chediak-Steinbrinck-Higashi syndrome|CHS|oculocutaneous albinism with leukocyte defect |
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