text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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A number sign (#) is used with this entry because of evidence that Jervell and Lange-Nielsen syndrome-2 (JLNS2) is caused by homozygous or compound heterozygous mutation in the KCNE1 gene (176261) on chromosome 21q22.
Long QT syndrome-5 (LQT5; 613695) is caused by heterozygous mutation in the KCNE1 gene.
Description
... | JERVELL AND LANGE-NIELSEN SYNDROME 2 | c0022387 | 0 | omim | https://www.omim.org/entry/612347 | 2019-09-22T16:01:47 | {"doid": ["2842"], "mesh": ["D029593"], "omim": ["612347"], "orphanet": ["90647", "768"], "genereviews": ["NBK1405"]} |
Ethanol is the type of alcohol found in alcoholic beverages. It is a volatile, flammable, colorless liquid that acts as a central nervous system depressant.[1] Ethanol can impair different types of memory.
Ethanol
Alcoholic beverages
## Contents
* 1 Mode of actions
* 1.1 Effects on the hippocampus
* 1.2... | Effects of alcohol on memory | c0001940 | 1 | wikipedia | https://en.wikipedia.org/wiki/Effects_of_alcohol_on_memory | 2021-01-18T18:59:58 | {"mesh": ["D000425"], "umls": ["C0001940"], "wikidata": ["Q5347361"]} |
Argentine hemorrhagic fever
SpecialtyInfectious disease
Argentine hemorrhagic fever (AHF) or O'Higgins disease, also known in Argentina as mal de los rastrojos (stubble disease) is a hemorrhagic fever and zoonotic infectious disease occurring in Argentina. It is caused by the Junín virus[1] (an arenavirus,... | Argentine hemorrhagic fever | c0019097 | 2 | wikipedia | https://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever | 2021-01-18T18:30:10 | {"mesh": ["D006478"], "umls": ["C0019097"], "icd-9": ["078.7"], "icd-10": ["A96.0"], "orphanet": ["319223"], "wikidata": ["Q2583514"]} |
Bilateral frontalparietal polymicrogyria
Other namesBFPP
Bilateral frontoparietal polymicrogyria is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation. Our brain has folds in the cortex to increase surface area called gyri and patients with polymicrogyri have an inc... | Bilateral frontoparietal polymicrogyria | c1847352 | 3 | wikipedia | https://en.wikipedia.org/wiki/Bilateral_frontoparietal_polymicrogyria | 2021-01-18T19:10:33 | {"gard": ["10784"], "mesh": ["C564652"], "umls": ["C1847352"], "orphanet": ["268940", "101070"], "wikidata": ["Q4907578"]} |
Amaurosis fugax
The arteries of the choroid and iris. The greater part of the sclera has been removed.
SpecialtyNeurology, ophthalmology
SymptomsTemporary fleeting of vision in one or both eyes
ComplicationsStroke[1][2]
DurationSeconds to hours
Amaurosis fugax (Greek amaurosis meaning darkening, dark, ... | Amaurosis fugax | c0149793 | 4 | wikipedia | https://en.wikipedia.org/wiki/Amaurosis_fugax | 2021-01-18T18:33:28 | {"gard": ["9660"], "mesh": ["D020757"], "umls": ["C0149793"], "icd-9": ["362.34"], "icd-10": ["G45.3"], "wikidata": ["Q2146228"]} |
Drug-induced purpura
SpecialtyDermatology
Drug-induced purpura is a skin condition that may be related to platelet destruction, vessel fragility, interference with platelet function, or vasculitis.[1]:824
## See also[edit]
* Food-induced purpura
* Rumpel-Leede sign
* Skin lesion
## References[edit... | Drug-induced purpura | c1264038 | 5 | wikipedia | https://en.wikipedia.org/wiki/Drug-induced_purpura | 2021-01-18T18:40:00 | {"umls": ["C1264038"], "wikidata": ["Q5308822"]} |
The prevalence of HIV/AIDS in Cambodia is among the highest in Asia. Although Cambodia is one of the poorest countries in the world, extensive HIV prevention and control efforts by the Royal Government of Cambodia and its partners have helped to reduce the spread of HIV. Between 2003 and 2005, the estimated HIV p... | HIV/AIDS in Cambodia | None | 6 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Cambodia | 2021-01-18T18:49:51 | {"wikidata": ["Q5629824"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-55 (EIEE55) is caused by compound heterozygous or homozygous mutation in the PIGP gene (605938) on chromosome 21q22.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see ... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 | c0393706 | 7 | omim | https://www.omim.org/entry/617599 | 2019-09-22T15:45:32 | {"doid": ["0080283"], "omim": ["617599"], "orphanet": ["1934"], "synonyms": ["Alternative titles", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14"]} |
## Summary
### Clinical characteristics.
Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic faci... | Prolidase Deficiency | c0268532 | 8 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK299584/ | 2021-01-18T21:01:35 | {"mesh": ["D056732"], "synonyms": []} |
Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this templa... | Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG | c1736154 | 9 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=639 | 2021-01-23T18:02:28 | {"umls": ["C1736154"], "icd-10": ["G61.8"], "synonyms": ["Anti-MAG neuropathy", "Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein"]} |
A number sign (#) is used with this entry because of evidence that presynaptic congenital myasthenic syndrome-20 (CMS20) is caused by homozygous or compound heterozygous mutation in the SLC5A7 gene (608761) on chromosome 2q12.
Description
Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular dis... | MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC | c0751884 | 10 | omim | https://www.omim.org/entry/617143 | 2019-09-22T15:46:42 | {"doid": ["0110661"], "mesh": ["D020294"], "omim": ["617143"], "orphanet": ["98914", "590"]} |
For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 (601104).
Clinical Features
De Yebenes et al. (1995) studied a 5-generation Spanish family in which progressive supranuclear palsy was transmitted as an autosomal dominant trait. The proband had... | SUPRANUCLEAR PALSY, PROGRESSIVE, 2 | c0038868 | 11 | omim | https://www.omim.org/entry/609454 | 2019-09-22T16:06:02 | {"doid": ["678"], "mesh": ["D013494"], "omim": ["609454"], "orphanet": ["240071", "683"]} |
A rare, genetic, inborn error of metabolism disorder characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels.
*[v]: View this template
*[t]: Discuss this template
... | S-adenosylhomocysteine hydrolase deficiency | c3151058 | 12 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88618 | 2021-01-23T17:34:25 | {"mesh": ["C564683"], "omim": ["613752"], "umls": ["C3151058"], "icd-10": ["E72.1"]} |
Keratoendotheliitis fugax hereditaria
Other namesKeratitis fugax hereditaria
SpecialtyOphthalmology
Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin[1] (also known as NALP3) that in humans is encoded by the NLRP3 gene [2... | Keratoendotheliitis fugax hereditaria | c1835697 | 13 | wikipedia | https://en.wikipedia.org/wiki/Keratoendotheliitis_fugax_hereditaria | 2021-01-18T18:32:25 | {"mesh": ["C563650"], "umls": ["C1835697"], "wikidata": ["Q55615849"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see 600512.
Clinical Features
Deprez et al. (2007) reported a 5-generation Belgian family with dominantly inherited occipitotemporal lobe epilepsy and migraine with visual aura. Age at onset ranged... | EPILEPSY, FAMILIAL TEMPORAL LOBE, 4 | c1842564 | 14 | omim | https://www.omim.org/entry/611631 | 2019-09-22T16:03:04 | {"doid": ["0060753"], "mesh": ["C536956"], "omim": ["611631"], "orphanet": ["98819"], "synonyms": ["Alternative titles", "EPILEPSY, OCCIPITOTEMPORAL LOBE, AND MIGRAINE WITH AURA"]} |
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FindZebra corpus
A collection of 30.658 curated articles about rare diseases gathered from GARD, GeneReviews, Genetics Home Reference, OMIM, Orphanet, and Wikipedia. Each article is referenced with a Concept Unique Identifier (CUI).
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The raw HTML content of each article has been processed using the following code (text column):
# Preprocessing code
import math
import html2text
parser = html2text.HTML2Text()
parser.ignore_links = True
parser.ignore_images = True
parser.ignore_tables = True
parser.ignore_emphasis = True
parser.body_width = math.inf
parser.body_width = math.inf
article_text = parser.handle(article_html)
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