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 rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.... | LRP5-related primary osteoporosis | None | 4,600 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=498481 | 2021-01-23T17:30:59 | {} |
Idiopathic infantile hypercalcemia is a condition characterized by high levels of calcium in the blood (hypercalcemia). Two types of idiopathic infantile hypercalcemia have been identified and are distinguished by their genetic causes: infantile hypercalcemia 1 and infantile hypercalcemia 2. In infants with either ty... | Idiopathic infantile hypercalcemia | c0268080 | 4,601 | medlineplus | https://medlineplus.gov/genetics/condition/idiopathic-infantile-hypercalcemia/ | 2021-01-27T08:25:16 | {"mesh": ["C562581"], "omim": ["143880", "616963"], "synonyms": []} |
Schnyder crystalline corneal dystrophy
Other namesCrystalline stromal dystrophy, Schnyder crystalline dystrophy sine crystals, Hereditary crystalline stromal dystrophy of Schnyder , Schnyder's crystalline corneal dystrophy
Schnyder corneal dystrophy. Crystalline opacities are evident in the central cornea (Courte... | Schnyder crystalline corneal dystrophy | c0271287 | 4,602 | wikipedia | https://en.wikipedia.org/wiki/Schnyder_crystalline_corneal_dystrophy | 2021-01-18T18:28:37 | {"gard": ["9277"], "mesh": ["C535475"], "umls": ["C0271287"], "orphanet": ["98967"], "wikidata": ["Q4162393"]} |
Damage to the tracheobronchial tree
Tracheobronchial injury
Reconstruction of the trachea and bronchi with x-ray computed tomography showing disruption of the right main bronchus with abnormal lucency (arrow)[1]
SpecialtyEmergency medicine
Tracheobronchial injury is damage to the tracheobronchial tree (... | Tracheobronchial injury | None | 4,603 | wikipedia | https://en.wikipedia.org/wiki/Tracheobronchial_injury | 2021-01-18T18:54:40 | {"icd-9": ["862.21"], "icd-10": ["S27.5", "S27.4"], "wikidata": ["Q7831313"]} |
Rasmussen's encephalitis
Other namesChronic focal encephalitis
Brain CT scan of a girl with Rasmussen's encephalitis.
SpecialtyNeurology
Rasmussen's encephalitis is a rare inflammatory neurological disease, characterized by frequent and severe seizures, loss of motor skills and speech, hemiparesis (wea... | Rasmussen's encephalitis | c2930868 | 4,604 | wikipedia | https://en.wikipedia.org/wiki/Rasmussen%27s_encephalitis | 2021-01-18T18:57:53 | {"mesh": ["C535291"], "umls": ["C2930868"], "icd-9": ["323.81"], "icd-10": ["G04.8"], "orphanet": ["1929"], "wikidata": ["Q1637701"]} |
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be chall... | Neonatal hypocalcemia | c0158984 | 4,605 | wikipedia | https://en.wikipedia.org/wiki/Neonatal_hypocalcemia | 2021-01-18T19:07:30 | {"umls": ["C0158984", "C0342634"], "icd-9": ["775.4"], "icd-10": ["P71"], "wikidata": ["Q18391768"]} |
A number sign (#) is used with this entry because LEOPARD syndrome-2 (LPRD2) is caused by heterozygous mutation in the RAF1 gene (164760) on chromosome 3p25.
For a phenotypic description and a discussion of genetic heterogeneity of LEOPARD syndrome, see 151100.
Clinical Features
Pandit et al. (2007) reported 2... | LEOPARD SYNDROME 2 | c0175704 | 4,606 | omim | https://www.omim.org/entry/611554 | 2019-09-22T16:03:08 | {"doid": ["0080549"], "mesh": ["D044542"], "omim": ["611554"], "orphanet": ["500"], "genereviews": ["NBK1383"]} |
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Find sources: "Listeriosis in animals" – news · newspapers · books · scholar · JSTOR (December 2019) (Learn how and when to remove thi... | Listeriosis in animals | None | 4,607 | wikipedia | https://en.wikipedia.org/wiki/Listeriosis_in_animals | 2021-01-18T18:33:46 | {"wikidata": ["Q4591781"]} |
Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during early development of the fetal brain. People with this condition typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is usually normal, but some people may have mild inte... | Periventricular heterotopia | c1868720 | 4,608 | gard | https://rarediseases.info.nih.gov/diseases/12724/periventricular-heterotopia | 2021-01-18T17:58:22 | {"mesh": ["D054091"], "orphanet": ["98892"], "synonyms": ["Periventricular nodular heterotopia", "PVNH"]} |
A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and sever intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteri... | Fryns-Smeets-Thiry syndrome | None | 4,609 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2058 | 2021-01-23T18:00:34 | {"gard": ["2409"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-113 (DFNB113) is caused by homozygous mutation in the CEACAM16 gene (614591) on chromosome 19q13.
Description
DFNB113 is characterized by postlingual progressive hearing impairment (Booth et al., 2018).
Clinical Feature... | DEAFNESS, AUTOSOMAL RECESSIVE 113 | None | 4,610 | omim | https://www.omim.org/entry/618410 | 2019-09-22T15:42:06 | {"omim": ["618410"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolated sensorineural hearing loss type DFNA", "... |
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Find sources: "Serpiginous choroiditis" – news · newspapers · books · scholar · JSTOR (January 2013) (Learn how and when to remove thi... | Serpiginous choroiditis | c0729842 | 4,611 | wikipedia | https://en.wikipedia.org/wiki/Serpiginous_choroiditis | 2021-01-18T18:31:27 | {"gard": ["31"], "umls": ["C0729842"], "orphanet": ["35686"], "wikidata": ["Q7455142"]} |
McKusick–Kaufman syndrome
McKusick–Kaufman syndrome is inherited in an autosomal recessive manner
McKusick–Kaufman syndrome is a genetic condition associated with MKKS.
The condition is named for Dr. Robert L. Kaufman and Victor McKusick.[1] It is sometimes known by the abbreviation MKS.[2] In infancy it ... | McKusick–Kaufman syndrome | c0948368 | 4,612 | wikipedia | https://en.wikipedia.org/wiki/McKusick%E2%80%93Kaufman_syndrome | 2021-01-18T18:30:13 | {"gard": ["3427"], "mesh": ["C538159"], "umls": ["C0948368"], "orphanet": ["2473"], "wikidata": ["Q3508674"]} |
Folliculitis decalvans
SpecialtyDermatology
Folliculitis decalvans is an inflammation of the hair follicle that leads to bogginess or induration of involved parts of the scalp along with pustules, erosions, crusts, ulcers, and scale.[1]:649[2]:760–1 It begins at a central point and spreads outward, leaving... | Folliculitis decalvans | c2608043 | 4,613 | wikipedia | https://en.wikipedia.org/wiki/Folliculitis_decalvans | 2021-01-18T18:47:59 | {"gard": ["373"], "icd-9": ["704.09"], "icd-10": ["L66.2"], "orphanet": ["346"], "synonyms": [], "wikidata": ["Q1435530"]} |
A number sign (#) is used with this entry because of evidence that Waldner blood group expression is caused by a point mutation in the SLC4A1 gene (109270).
Lewis and Kaita (1981) found a 'new' red cell antigen in Hutterites of the surname Waldner. Zelinski et al. (1995) stated that the WD blood group antigen ha... | BLOOD GROUP--WALDNER TYPE | c1862191 | 4,614 | omim | https://www.omim.org/entry/112010 | 2019-09-22T16:44:11 | {"omim": ["112010"], "synonyms": ["Alternative titles", "WALDNER BLOOD GROUP ANTIGEN"]} |
Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another card... | Endocardial fibroelastosis | c0014117 | 4,615 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2022 | 2021-01-23T18:51:00 | {"gard": ["2121", "6336"], "mesh": ["D004695"], "omim": ["226000"], "umls": ["C0014117"], "icd-10": ["I42.4"], "synonyms": ["Endomyocardial fibroelastosis"]} |
## Summary
### Clinical characteristics.
Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected i... | Bloom Syndrome | c0005859 | 4,616 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1398/ | 2021-01-18T21:39:07 | {"mesh": ["D001816"], "synonyms": []} |
Usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa. Sensorineural hearing means it is caused by abnormalities of the inner ear. Retinitis pigmentosa is an eye disease that affects the layer of light-sensitive tissue at t... | Usher syndrome | c0271097 | 4,617 | gard | https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome | 2021-01-18T17:57:13 | {"mesh": ["D052245"], "umls": ["C0271097"], "orphanet": ["886"], "synonyms": ["Deafness-retinitis pigmentosa syndrome", "Dystrophia retinae pigmentosa-dysostosis syndrome", "Graefe-Usher syndrome", "Hallgren syndrome", "Usher's syndrome"]} |
For the genus of fungi, see Piloderma.
Pyoderma
Pyodermia of parasitic origin
SpecialtyDermatology
Pyoderma means any skin disease that is pyogenic (has pus). These include superficial bacterial infections such as impetigo, impetigo contagiosa, ecthyma, folliculitis, Bockhart's impetigo, furuncle, carbuncle... | Pyoderma | c0034212 | 4,618 | wikipedia | https://en.wikipedia.org/wiki/Pyoderma | 2021-01-18T18:35:21 | {"mesh": ["D011711"], "umls": ["C0034212"], "wikidata": ["Q2119633"]} |
Annual ryegrass toxicity (ARGT) is the poisoning of livestock from toxin contained in bacterially infected annual ryegrass (Lolium rigidum). The toxin is produced by the bacterium Rathayibacter toxicus (formerly Clavibacter toxicus), which is carried into the ryegrass by the nematode Anguina funesta.[1]
## Conte... | Annual ryegrass toxicity | None | 4,619 | wikipedia | https://en.wikipedia.org/wiki/Annual_ryegrass_toxicity | 2021-01-18T18:58:14 | {"wikidata": ["Q4769699"]} |
This article's lead section may be too short to adequately summarize its key points. Please consider expanding the lead to provide an accessible overview of all important aspects of the article. (January 2016)
Corneal neovascularization
Blood vessels in the cornea
SpecialtyOphthalmology
Corneal neovascu... | Corneal neovascularization | c0085109 | 4,620 | wikipedia | https://en.wikipedia.org/wiki/Corneal_neovascularization | 2021-01-18T19:08:08 | {"mesh": ["D016510"], "umls": ["C0085109"], "wikidata": ["Q1266519"]} |
Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in e... | Leptin receptor deficiency | c3554225 | 4,621 | medlineplus | https://medlineplus.gov/genetics/condition/leptin-receptor-deficiency/ | 2021-01-27T08:25:21 | {"omim": ["614963"], "synonyms": []} |
Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain. The condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, d... | Optic neuritis | c0029134 | 4,622 | gard | https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis | 2021-01-18T17:58:35 | {"mesh": ["D009902"], "umls": ["C0029134"], "synonyms": []} |
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-sha... | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | c0432214 | 4,623 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93279 | 2021-01-23T17:23:32 | {"mesh": ["C565740"], "omim": ["604864"], "icd-10": ["Q77.7"]} |
Onychomatricoma
SpecialtyDermatology
Onychomatricoma is a cutaneous condition characterized by a distinctive tumor of the nail matrix.[1]
This nail disease can mimic many nail problems and should be examined and biopsied by a dermatologist.[2] In particular, a main concern is the malignant and destructive pot... | Onychomatricoma | None | 4,624 | wikipedia | https://en.wikipedia.org/wiki/Onychomatricoma | 2021-01-18T19:08:48 | {"orphanet": ["300512"], "synonyms": [], "wikidata": ["Q7095153"]} |
Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.
## Epidemiology
The prevalence is estimated at around 1/50,000.
## Clinical description
Onset of the disease usually occurs around puberty. Patients present w... | Darier disease | c0022595 | 4,625 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=218 | 2021-01-23T19:03:27 | {"gard": ["6243"], "mesh": ["D007644"], "omim": ["124200"], "umls": ["C0022595"], "icd-10": ["Q82.8"], "synonyms": ["Darier-White disease", "Keratosis follicularis"]} |
A number sign (#) is used with this entry because of evidence that dystrophic epidermolysis bullosa (DEB) pruriginosa is caused by mutations in the COL7A1 gene (120120).
See also autosomal dominant DEB (131750) and autosomal recessive DEB (226600), allelic disorders with overlapping phenotypes.
Description
Dystrop... | EPIDERMOLYSIS BULLOSA PRURIGINOSA | c1275114 | 4,626 | omim | https://www.omim.org/entry/604129 | 2019-09-22T16:12:28 | {"mesh": ["C563192"], "omim": ["604129"], "orphanet": ["89843"], "synonyms": ["Alternative titles", "DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA", "DEB, PRURIGINOSA"], "genereviews": ["NBK1304"]} |
The possibility of an X-linked form was raised by Partington (1985) on the basis of the following observations: 2 brothers, aged 7 and 4, had prenatal growth retardation, triangular facies and cafe-au-lait (CAL) spots. Both had asthma. The mother was 160 cm tall and had CAL spots. Her 4 brothers were tall with no spo... | RUSSELL-SILVER SYNDROME, X-LINKED | c0175693 | 4,627 | omim | https://www.omim.org/entry/312780 | 2019-09-22T16:17:18 | {"mesh": ["D056730"], "omim": ["312780"], "orphanet": ["813"], "synonyms": ["Alternative titles", "RUSSELL-SILVER-LIKE SYNDROME WITH SKIN PIGMENTATION", "PARTINGTON SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that long QT syndrome-10 (LQT10) and familial atrial fibrillation-17 (ATFB17) are caused by heterozygous mutation in the SCN4B gene (608256) on chromosome 11q23.
For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).
For a disc... | LONG QT SYNDROME 10 | c1141890 | 4,628 | omim | https://www.omim.org/entry/611819 | 2019-09-22T16:02:48 | {"doid": ["0110651"], "omim": ["611819"], "orphanet": ["768", "334", "101016"], "genereviews": ["NBK1129"]} |
Unusually small penis
For the legal term, see Small penis rule.
Micropenis
A flaccid micropenis
SpecialtyUrology
DurationPermanent (Lifetime)
Frequencyaround 0.6% of men.
Micropenis is an unusually small penis. A common criterion is a dorsal (measured on top) erect penile length of at least 2.5 standar... | Micropenis | c0266435 | 4,629 | wikipedia | https://en.wikipedia.org/wiki/Micropenis | 2021-01-18T18:34:55 | {"umls": ["C0266435", "C1387005"], "icd-9": ["752.64"], "orphanet": ["95707"], "wikidata": ["Q1471642"]} |
Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adre... | Kienbock disease | c0022682 | 4,630 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97332 | 2021-01-23T18:29:30 | {"gard": ["9690"], "mesh": ["D010020"], "umls": ["C0022682"], "icd-10": ["M92.2", "M93.2"], "synonyms": ["Aseptic necrosis of the lunate bone", "Lunatomalacia", "Osteochondrosis of the lunate bone", "Progressive avascular necrosis of the lunate bone"]} |
Pesme et al. (1950) and Reichel et al. (1992) described sporadic cases of bilateral ectopia lentis associated with craniosynostosis. Cruysberg et al. (1999) observed the combination in twin sisters. Molecular studies yielded a probability of monozygosity of more than 0.98. Surgical correction of the craniosynostosis ... | CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS | c1863678 | 4,631 | omim | https://www.omim.org/entry/603595 | 2019-09-22T16:12:49 | {"mesh": ["C566357"], "omim": ["603595"]} |
Gastroparesis, or delayed gastric emptying, is a disorder where the food does not move or moves very slowly from the stomach to the small intestine. In gastroparesis, the muscles of the stomach do not work well and digestion takes an abnormally long time. Symptoms of gastroparesis include bloating, nausea, vomiting, ... | Gastroparesis | c0152020 | 4,632 | gard | https://rarediseases.info.nih.gov/diseases/12278/gastroparesis | 2021-01-18T18:00:22 | {"mesh": ["D018589"], "synonyms": ["Delayed gastric emptying"]} |
A number sign (#) is used with this entry because of evidence that elliptocytosis-1 (EL1) is caused by heterozygous or homozygous mutation in the gene encoding erythrocyte membrane protein 4.1 (EPB41; 130500) on chromosome 1p35.
Description
Elliptocytosis is a hematologic disorder characterized by elliptically shap... | ELLIPTOCYTOSIS 1 | c0013902 | 4,633 | omim | https://www.omim.org/entry/611804 | 2019-09-22T16:02:50 | {"doid": ["2373"], "mesh": ["D004612"], "omim": ["611804"], "orphanet": ["288"], "synonyms": ["Alternative titles", "ELLIPTOCYTOSIS, RHESUS-LINKED TYPE", "PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF", "4.1-MINUS TRAIT", "4.1- TRAIT"]} |
A number sign (#) is used with this entry because this tumor predisposition syndrome (TPDS) can be caused by heterozygous germline mutation in the BAP1 gene (603089) on chromosome 3p21.
Description
This tumor predisposition syndrome is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BA... | TUMOR PREDISPOSITION SYNDROME | c3280492 | 4,634 | omim | https://www.omim.org/entry/614327 | 2019-09-22T15:55:41 | {"omim": ["614327"], "orphanet": ["289539"], "synonyms": ["Tumor susceptibility linked to germline BAP1 mutations"], "genereviews": ["NBK390611"]} |
Hemochromatosis type 4 (also called ferroportin disease) is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, hear... | Hemochromatosis type 4 | c1853733 | 4,635 | gard | https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4 | 2021-01-18T18:00:07 | {"mesh": ["C537249"], "omim": ["606069"], "umls": ["C1853733"], "orphanet": ["139491"], "synonyms": ["HFE4", "Hemochromatosis, autosomal dominant", "Hemochromatosis due to defect in ferroportin", "Autosomal dominant hereditary hemochromatosis", "Ferroportin disease"]} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome.
Clinical Features
Vincent et al. (1994) analyzed a de novo 8q12.2-q21.2 deletion with the identification of a proposed 'new' contiguous gene syndrome consisting of the branchiootorenal (BOR) syndrome (113650), Duane... | CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME | c1838346 | 4,636 | omim | https://www.omim.org/entry/600257 | 2019-09-22T16:16:28 | {"mesh": ["C536574"], "omim": ["600257"], "synonyms": ["Alternative titles", "BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME"]} |
Jung and Smith (1980) described mother and daughter with asymmetric short stature associated with craniofacial, ocular, and skeletal anomalies. The mother was 132 cm tall; the daughter was 82 cm tall at 3.5 years of age (-4 SD). Both showed mild frontal bossing, small almost beaked nose, mandibular hypoplasia with de... | ASYMMETRIC SHORT STATURE SYNDROME | c1862458 | 4,637 | omim | https://www.omim.org/entry/108450 | 2019-09-22T16:44:43 | {"mesh": ["C566248"], "omim": ["108450"]} |
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and sp... | Anencephaly | c0002902 | 4,638 | medlineplus | https://medlineplus.gov/genetics/condition/anencephaly/ | 2021-01-27T08:24:36 | {"gard": ["5808"], "mesh": ["D000757"], "omim": ["206500", "601634", "182940"], "synonyms": []} |
von Zumbusch (acute) generalized pustular psoriasis (acute GPP) is the most severe form of generalized pustular psoriasis, and can be associated with life-threatening complications.[1]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 History
* 5 References
* 6 External links
## Signs ... | (von Zumbusch) acute generalized pustular psoriasis | c0343056 | 4,639 | wikipedia | https://en.wikipedia.org/wiki/(von_Zumbusch)_acute_generalized_pustular_psoriasis | 2021-01-18T18:46:16 | {"umls": ["C0343056", "C2888177"], "wikidata": ["Q30602307"]} |
A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.
## Epidemiology
Spontaneous periodic hypothermia (SPH) prevalence is unknown but to date more than 50 cases of spontaneous periodic hypothermia have been described in the world ... | Spontaneous periodic hypothermia | c2931542 | 4,640 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=29822 | 2021-01-23T18:41:01 | {"gard": ["4815"], "mesh": ["C537594"], "umls": ["C2931542"], "icd-10": ["G90.8"], "synonyms": ["Episodic spontaneous hypothermia", "Shapiro syndrome"]} |
Myopathic gait
SpecialtyNeurology
Causesweakness of the proximal muscles of the pelvic girdle
Myopathic gait (or waddling gait) is a form of gait abnormality.
The "waddling" is due to the weakness of the proximal muscles of the pelvic girdle.[1]
The patient uses circumduction to compensate for gluteal weak... | Myopathic gait | c0547001 | 4,641 | wikipedia | https://en.wikipedia.org/wiki/Myopathic_gait | 2021-01-18T18:35:21 | {"wikidata": ["Q6947994"]} |
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual ... | Autosomal recessive spastic paraplegia type 15 | c1849128 | 4,642 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100996 | 2021-01-23T18:29:28 | {"gard": ["9581"], "mesh": ["C536642"], "omim": ["270700"], "umls": ["C1849128"], "icd-10": ["G11.4"], "synonyms": ["Hereditary spastic paraparesis type 15", "Kjellin syndrome", "SPG15", "Spastic paraplegia-retinal degeneration syndrome"]} |
Pneumoscrotum
SpecialtyUrology
Pneumoscrotum is a rare medical condition in which gas accumulates in the scrotum. It has a variety of possible causes.[1][2][3][4]
## See also[edit]
* Pneumothorax
* Pneumatocele
* Scrotal inflation
## References[edit]
1. ^ Firman, R; Heiselman, D; Lloyd, T; Mardesic... | Pneumoscrotum | None | 4,643 | wikipedia | https://en.wikipedia.org/wiki/Pneumoscrotum | 2021-01-18T18:55:56 | {"wikidata": ["Q17153307"]} |
Salivary gland–like carcinoma of the lung
SpecialtyOncology
Salivary gland–like carcinomas of the lung generally refers a class of rare cancers that arise from the uncontrolled cell division (mitosis) of mutated cancer stem cells in lung tissue. They take their name partly from the appearance of their abno... | Salivary gland–like carcinoma of the lung | c3873334 | 4,644 | wikipedia | https://en.wikipedia.org/wiki/Salivary_gland%E2%80%93like_carcinoma_of_the_lung | 2021-01-18T18:32:34 | {"umls": ["C3873334"], "wikidata": ["Q7404869"]} |
Collagen disease
SpecialtyRheumatology
Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis), but now is thought to be more appropriate for diseases associated with defects in collagen, which is... | Collagen disease | c0009326 | 4,645 | wikipedia | https://en.wikipedia.org/wiki/Collagen_disease | 2021-01-18T19:00:23 | {"mesh": ["D003095"], "umls": ["C0009326"], "wikidata": ["Q1446169"]} |
Trophoblastic neoplasm
Micrograph of intermediate trophoblast and a hydatidiform mole (bottom of image). H&E stain.
SpecialtyOncology
Gestational trophoblastic neoplasia (GTN) is group of rare diseases related to pregnancy and included in gestational trophoblastic disease (GTD) in which abnormal trophobl... | Trophoblastic neoplasm | c0041182 | 4,646 | wikipedia | https://en.wikipedia.org/wiki/Trophoblastic_neoplasm | 2021-01-18T18:42:13 | {"mesh": ["D014328"], "umls": ["C0041182"], "orphanet": ["59305"], "wikidata": ["Q7845637"]} |
For a clinical description of atopic dermatitis and an overview of linkage studies, see 603165.
Mapping
Esparza-Gordillo et al. (2009) conducted a genomewide association study in 939 individuals with atopic dermatitis and 975 controls as well as 270 complete nuclear families with 2 affected sibs. Single-nucleot... | DERMATITIS, ATOPIC, 7 | c2751599 | 4,647 | omim | https://www.omim.org/entry/613064 | 2019-09-22T15:59:52 | {"mesh": ["C567796"], "omim": ["613064"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-64 (IMD64) is caused by homozygous or compound heterozygous mutation in the RASGRP1 gene (603962) on chromosome 15q14.
Description
Immunodeficiency-64 (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset... | IMMUNODEFICIENCY 64 | None | 4,648 | omim | https://www.omim.org/entry/618534 | 2019-09-22T15:41:31 | {"omim": ["618534"]} |
Omenn syndrome
Omenn syndrome has an autosomal recessive pattern of inheritance.
SpecialtyHematology
Omenn syndrome is an autosomal recessive severe combined immunodeficiency.[1] It is associated with hypomorphic missense mutations in immunologically relevant genes of T-cells (and B-cells) such as recombinat... | Omenn syndrome | c1801959 | 4,649 | wikipedia | https://en.wikipedia.org/wiki/Omenn_syndrome | 2021-01-18T19:06:40 | {"gard": ["8198"], "umls": ["C1801959"], "orphanet": ["39041"], "wikidata": ["Q2214419"]} |
Heerfordt syndrome
Other namesUveoparotid fever,[1] Heerfordt–Mylius syndrome, Heerfordt–Waldenström syndrome, and Waldenström's uveoparotitis[2]
SpecialtyAngiology
Heerfordt syndrome is a rare manifestation of sarcoidosis. The symptoms include inflammation of the eye (uveitis), swelling of the parotid g... | Heerfordt syndrome | c0042171 | 4,650 | wikipedia | https://en.wikipedia.org/wiki/Heerfordt_syndrome | 2021-01-18T18:42:14 | {"mesh": ["D014608"], "umls": ["C0042171"], "wikidata": ["Q1593605"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Insulin resistance" – news · newspaper... | Insulin resistance | c3714619 | 4,651 | wikipedia | https://en.wikipedia.org/wiki/Insulin_resistance | 2021-01-18T18:32:40 | {"mesh": ["D007333"], "umls": ["C3714619"], "orphanet": ["181368"], "wikidata": ["Q1053470"]} |
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is a neurological disorder that can also affect many other body systems. This condition primarily affects neurological development, causing intellectual disability, delayed development of speech and motor skills (such as si... | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | c4310772 | 4,652 | medlineplus | https://medlineplus.gov/genetics/condition/neurodevelopmental-disorder-with-or-without-anomalies-of-the-brain-eye-or-heart/ | 2021-01-27T08:25:07 | {"omim": ["616975"], "synonyms": []} |
Animation illustrating the normal activation of the electrical conduction system of the heart: starting from the sinoatrial node, an electrical impulse spreads across the atria, then passes through the atrioventricular node (AV node) and conducts on via the bundle branches towards the ventricles.
In cardiology, a ve... | Ventricular escape beat | c0232214 | 4,653 | wikipedia | https://en.wikipedia.org/wiki/Ventricular_escape_beat | 2021-01-18T18:55:29 | {"umls": ["C0232214"], "wikidata": ["Q7920315"]} |
Animal
A royal white elephant, as depicted in a Thai painting
A white elephant ( not as totally similar to albino elephant as most of westeners thought.) is a rare kind of elephant, but not a distinct species. In Hindu puranas, the god Indra has a white elephant. Although often depicted as snow white, their skin is... | White elephant (animal) | None | 4,654 | wikipedia | https://en.wikipedia.org/wiki/White_elephant_(animal) | 2021-01-18T18:31:23 | {"wikidata": ["Q3629117"]} |
A number sign (#) is used with this entry because of evidence that spinocerebellar ataxia-45 (SCA45) is caused by heterozygous mutation in the FAT2 gene (604269) on chromosome 5q33.
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Clinical Features
Nibbeling et al. (2017) r... | SPINOCEREBELLAR ATAXIA 45 | c4540400 | 4,655 | omim | https://www.omim.org/entry/617769 | 2019-09-22T15:44:49 | {"omim": ["617769"]} |
## Summary
### Clinical characteristics.
Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age.
Recent guidelines on VWD ha... | von Willebrand Disease | c0042974 | 4,656 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK7014/ | 2021-01-18T20:50:42 | {"mesh": ["D014842"], "synonyms": ["von Willebrand Factor Deficiency"]} |
## Description
Mandibular prognathism is a dentofacial anomaly characterized by protrusion of the mandible, with lower incisors often overlapping the upper incisors. The protruding lower jaw is caused by a forward positioning of the mandible itself (summary by Stiles and Luke, 1953).
Nomenclature
The 'Habsburg Ja... | PROGNATHISM, MANDIBULAR | c0399526 | 4,657 | omim | https://www.omim.org/entry/176700 | 2019-09-22T16:35:42 | {"mesh": ["D008313"], "omim": ["176700"], "icd-9": ["524.23"], "icd-10": ["M26.213"], "orphanet": ["2964"], "synonyms": ["'HABSBURG JAW'", "Alternative titles", "'HAPSBURG JAW'"]} |
A number sign (#) is used with this entry because Diamond-Blackfan anemia-1 (DBA1) is caused by heterozygous mutation in the gene encoding ribosomal protein S19 (RPS19; 603474) on chromosome 19q13.
Description
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first ye... | DIAMOND-BLACKFAN ANEMIA 1 | c1260899 | 4,658 | omim | https://www.omim.org/entry/105650 | 2019-09-22T16:45:05 | {"doid": ["1339"], "mesh": ["D029503"], "omim": ["105650"], "orphanet": ["124"], "synonyms": ["Alternative titles", "DBA", "BLACKFAN-DIAMOND SYNDROME", "ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND", "ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC", "RED CELL APLASIA, PURE, HEREDITARY", "AREGENERATIVE ANEMIA, CHRO... |
Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.
## Epidemiology
Annual incidence in the United States is estimated at around 1/250,000 inhabitants, but may be underestimated. The exact incidence in Europe is unknown. Men are more frequently af... | Nocardiosis | c0028242 | 4,659 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=31204 | 2021-01-23T17:52:52 | {"gard": ["7210"], "mesh": ["D009617", "C536125"], "umls": ["C0028242"], "icd-10": ["A43.0", "A43.1", "A43.8", "A43.9"]} |
Wikipedia list article
This article needs attention from an expert on the subject. Please add a reason or a talk parameter to this template to explain the issue with the article.
When placing this tag, consider associating this request with a WikiProject. (June 2015)
List of types of malnutrition or list of n... | List of types of malnutrition | c3714509 | 4,660 | wikipedia | https://en.wikipedia.org/wiki/List_of_types_of_malnutrition | 2021-01-18T18:45:06 | {"mesh": ["D009748"], "umls": ["C3714509"], "wikidata": ["Q1361144"]} |
A number sign (#) is used with this entry because spinocerebellar ataxia-38 (SCA38) is caused by heterozygous mutation in the ELOVL5 gene (611805) on chromosome 6p12.
Description
Spinocerebellar ataxia-38 is an autosomal dominant neurologic disorder characterized by adult-onset of slowly progressive gait ataxia... | SPINOCEREBELLAR ATAXIA 38 | c4518337 | 4,661 | omim | https://www.omim.org/entry/615957 | 2019-09-22T15:50:29 | {"doid": ["0050985"], "omim": ["615957"], "orphanet": ["423296"], "synonyms": ["SCA38"], "genereviews": ["NBK543515"]} |
Idiopathic sclerosing mesenteritis
Other namesMesenteric panniculitis
Sclerosing mesenteritis - note the hemosiderin, chronic inflammation
CausesNot known[1]
Risk factorsAutoimmune disorder, abdominal trauma, history of infection[1]
Diagnostic methodCT scan[2][3]
TreatmentCorticosteroids may be used[1]
... | Idiopathic sclerosing mesenteritis | c0267770 | 4,662 | wikipedia | https://en.wikipedia.org/wiki/Idiopathic_sclerosing_mesenteritis | 2021-01-18T18:29:25 | {"gard": ["8169"], "mesh": ["D015436"], "umls": ["C0267770", "C0025470"], "orphanet": ["238593"], "wikidata": ["Q17048348"]} |
A number sign (#) is used with this entry because nonprogressive cerebellar ataxia with mental retardation (CANPMR) is caused by heterozygous disruption of the CAMTA1 gene (611501) on chromosome 1p36.
Description
Nonprogressive cerebellar ataxia with mental retardation is an autosomal dominant neurodevelopmenta... | CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION | c3553661 | 4,663 | omim | https://www.omim.org/entry/614756 | 2019-09-22T15:54:17 | {"doid": ["0050998"], "omim": ["614756"], "orphanet": ["314647"], "synonyms": []} |
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal... | Monoclonal mast cell activation syndrome | c4267893 | 4,664 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=529468 | 2021-01-23T17:12:25 | {"synonyms": ["Monoclonal MCAD"]} |
Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.
The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to... | Ochoa syndrome | c0403555 | 4,665 | medlineplus | https://medlineplus.gov/genetics/condition/ochoa-syndrome/ | 2021-01-27T08:25:20 | {"gard": ["104"], "mesh": ["C536480"], "omim": ["236730"], "synonyms": []} |
Footballer's Ankle is a pinching or impingement of the ligaments or tendons of the ankle between the bones, particularly the talus and tibia. This results in pain, inflammation and swelling.
## Contents
* 1 Causes
* 2 Symptoms
* 3 Treatment
* 4 External links
## Causes[edit]
A common cause of anterior imp... | Footballer's ankle | c3267036 | 4,666 | wikipedia | https://en.wikipedia.org/wiki/Footballer%27s_ankle | 2021-01-18T18:58:11 | {"umls": ["C3267036"], "wikidata": ["Q5466445"]} |
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.
## Epidemiology
It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani f... | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | c1836780 | 4,667 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65288 | 2021-01-23T18:04:18 | {"mesh": ["C563796"], "omim": ["609069"], "umls": ["C1836780"], "synonyms": ["Pancreatic and cerebellar agenesis"]} |
Adrenal gland disorders (or diseases) are conditions that interfere with the normal functioning of the adrenal glands.[1] Adrenal disorders may cause hyperfunction or hypofunction, and may be congenital or acquired.
The adrenal gland produces hormones that affects growth, development and stress, and also helps to re... | Adrenal gland disorder | c0001621 | 4,668 | wikipedia | https://en.wikipedia.org/wiki/Adrenal_gland_disorder | 2021-01-18T18:37:22 | {"mesh": ["D000307"], "umls": ["C0001621", "C4021794"], "wikidata": ["Q4684717"]} |
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It... | Familial dysautonomia | c0013364 | 4,669 | medlineplus | https://medlineplus.gov/genetics/condition/familial-dysautonomia/ | 2021-01-27T08:25:31 | {"gard": ["7581"], "mesh": ["D004402"], "omim": ["223900"], "synonyms": []} |
A number sign (#) is used with this entry because ovarian cancer has been associated with somatic changes in several genes, including OPCML (600632), PIK3CA (171834), AKT1 (164730), CTNNB1 (116806), RRAS2 (600098), CDH1 (192090), ERBB2 (164870), and PARK2 (602544).
See also 607893 for an ovarian cancer susceptibilit... | OVARIAN CANCER | c0677886 | 4,670 | omim | https://www.omim.org/entry/167000 | 2019-09-22T16:36:48 | {"doid": ["2394"], "mesh": ["D000077216"], "omim": ["167000"], "icd-9": ["183.0"], "icd-10": ["C56"]} |
Proteopathy
Micrograph of a section of the cerebral cortex from a person with Alzheimer's disease, immunostained with an antibody to amyloid beta (brown), a protein fragment that accumulates in senile plaques and cerebral amyloid angiopathy. 10X microscope objective.
In medicine, proteopathy (/proʊtiːˈɒpəθiː/;... | Proteopathy | None | 4,671 | wikipedia | https://en.wikipedia.org/wiki/Proteopathy | 2021-01-18T18:37:41 | {"wikidata": ["Q2113512"]} |
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to... | Familial exudative vitreoretinopathy | c0035344 | 4,672 | medlineplus | https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy/ | 2021-01-27T08:25:17 | {"gard": ["1613"], "mesh": ["D012178"], "omim": ["133780", "305390", "605750", "601813"], "synonyms": []} |
A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective e... | Primary myelofibrosis | c0001815 | 4,673 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=824 | 2021-01-23T18:16:10 | {"gard": ["8618"], "mesh": ["D055728"], "omim": ["254450"], "umls": ["C0001815", "C0026987"], "icd-10": ["D47.4"], "synonyms": ["Agnogenic myeloid metaplasia", "Idiopathic myelofibrosis", "Myelofibrosis with myeloid metaplasia", "Osteomyelofibrosis"]} |
Beare et al. (1966) described an Irish family in which 4 persons in 3 generations suffered from annular erythema.
Inheritance \- Autosomal dominant Skin \- Annular erythema ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[A... | ANNULAR ERYTHEMA | c0234906 | 4,674 | omim | https://www.omim.org/entry/106500 | 2019-09-22T16:44:59 | {"mesh": ["C562461"], "omim": ["106500"]} |
Superficial spreading melanoma
Other namesSuperficially spreading melanoma[1]
SpecialtyDermatology
Superficial spreading melanoma (SSM) is usually characterized as the most common form of cutaneous melanoma[2] in Caucasians. The average age at diagnosis is in the fifth decade, and it tends to occur on sun-ex... | Superficial spreading melanoma | c0334438 | 4,675 | wikipedia | https://en.wikipedia.org/wiki/Superficial_spreading_melanoma | 2021-01-18T18:54:37 | {"gard": ["9960"], "umls": ["C0334438"], "icd-10": ["C43"], "wikidata": ["Q7643331"]} |
Toyama (1972) described 3 affected males, all first cousins, each in a different sibship. The relevant parents were 2 brothers and a sister, all affected. Presumably there was no consanguinity in the family. Autosomal dominant inheritance with reduced penetrance seems possible. Collaboration of a structural predi... | POPLITEAL CYST | c0032650 | 4,676 | omim | https://www.omim.org/entry/175750 | 2019-09-22T16:35:57 | {"mesh": ["D011151"], "omim": ["175750"], "icd-9": ["727.51"], "icd-10": ["M71.20", "M71.2"], "synonyms": ["Alternative titles", "BAKER CYST"]} |
Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.
People with PHA2 have high blood pressure (hypertension) and... | Pseudohypoaldosteronism type 2 | c1840389 | 4,677 | medlineplus | https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-2/ | 2021-01-27T08:25:16 | {"gard": ["4553"], "mesh": ["C564160"], "omim": ["145260", "614491", "614492", "614495", "614496"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-34 (DFNA34) with or without inflammation is caused by heterozygous mutation in the NLRP3 gene (606416) on chromosome 1q44.
Heterozygous mutation in the NLRP3 gene can also cause several autoinflammatory disorders, includin... | DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | c4521680 | 4,678 | omim | https://www.omim.org/entry/617772 | 2019-09-22T15:44:48 | {"omim": ["617772"]} |
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.
*[v... | Paraplegia-intellectual disability-hyperkeratosis syndrome | c2745996 | 4,679 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2824 | 2021-01-23T18:16:35 | {"gard": ["2344"], "mesh": ["C537058"], "omim": ["309560"], "umls": ["C2745996"], "icd-10": ["G82.1"], "synonyms": ["Fitzsimmons-McLachlan-Gilbert syndrome"]} |
Part of a series on
Doping in sport
Substances and types
* Anabolic steroids
* Blood doping
* Gene doping
* Cannabinoids
* Diuretics
* Painkillers
* Sedatives
* Stem cell doping
* Stimulants
* Beta2-adrenergic agonist
* Clenbuterol
* Ephedrine
* EPO
* Human growth hormone
*... | Doping in sport | None | 4,680 | wikipedia | https://en.wikipedia.org/wiki/Doping_in_sport | 2021-01-18T18:57:20 | {"mesh": ["D004300"], "umls": ["C0013039"], "wikidata": ["Q166376"]} |
Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, t... | Congenital insensitivity to pain | c1855739 | 4,681 | medlineplus | https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain/ | 2021-01-27T08:25:03 | {"gard": ["12267"], "mesh": ["C565467"], "omim": ["243000"], "synonyms": []} |
Fetal hydantoin syndrome
Phenytoin
SpecialtyMedical genetics
Fetal hydantoin syndrome, also called fetal dilantin syndrome, is a group of defects caused to the developing fetus by exposure to teratogenic effects of phenytoin. Dilantin is the brand name of the drug phenytoin sodium in the United States, commo... | Fetal hydantoin syndrome | c0265372 | 4,682 | wikipedia | https://en.wikipedia.org/wiki/Fetal_hydantoin_syndrome | 2021-01-18T18:49:20 | {"gard": ["6435"], "mesh": ["C537922"], "umls": ["C0265372"], "icd-9": ["760.77"], "icd-10": ["Q86.1"], "orphanet": ["1912"], "wikidata": ["Q5445904"]} |
A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, cystic renal disease and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile... | Nephronophthisis | c0687120 | 4,683 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=655 | 2021-01-23T18:14:11 | {"gard": ["206"], "omim": ["256100", "602088", "604387", "606966", "611498", "613159", "613820", "613824", "614377", "615382", "615862", "617271"], "umls": ["C0687120"], "icd-10": ["Q61.5"]} |
Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.
## Epidemiology
The annual incidence varies from 1/4,000 to 1/10,000 births with major variation among geographic regions and ethnic groups. Cleft lip/alveolus is twice as common in b... | Cleft lip and alveolus | c1298692 | 4,684 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141291 | 2021-01-23T17:35:33 | {"omim": ["119530", "129400", "225060", "600757", "602966", "608371", "608874", "610361", "612858"], "umls": ["C1298692"], "icd-10": ["Q36.0", "Q36.1", "Q36.9"]} |
## Description
Collagen has a triple-stranded rope-like coiled structure. The major collagen of skin, tendon, and bone is the same protein containing 2 alpha-1 polypeptide chains and 1 alpha-2 chain. Although these are long (the procollagen chain has a molecular mass of about 120 kD, before the 'registration peptid... | COLLAGEN, TYPE I, ALPHA-1 | c1852924 | 4,685 | omim | https://www.omim.org/entry/120150 | 2019-09-22T16:43:08 | {"mesh": ["C565178"], "omim": ["120150"], "synonyms": ["Alternative titles", "COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-1 CHAIN"]} |
2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, fai... | SATB2-associated syndrome due to a chromosomal rearrangement | c2676739 | 4,686 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251028 | 2021-01-23T19:09:36 | {"mesh": ["C567350"], "omim": ["612313"], "icd-10": ["Q93.5"], "synonyms": ["2q33.1 microdeletion syndrome", "Del(2)(q33.1)", "Monosomy 2q33.1"]} |
Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain... | Idiopathic recurrent pericarditis | c4707790 | 4,687 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251307 | 2021-01-23T18:15:43 | {"icd-10": ["I09.2"], "synonyms": ["Idiopathic relapsing pericarditis"]} |
A number sign (#) is used with this entry because osteogenesis imperfecta type IV (OI4) is caused by heterozygous mutation in the COL1A1 gene (120150) or the COL1A2 gene (120160).
Description
Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in over 90%... | OSTEOGENESIS IMPERFECTA, TYPE IV | c0268363 | 4,688 | omim | https://www.omim.org/entry/166220 | 2019-09-22T16:37:02 | {"doid": ["0110340"], "mesh": ["C536045"], "omim": ["166220"], "orphanet": ["216820", "666"], "synonyms": ["Alternative titles", "OI, TYPE IV", "OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE"], "genereviews": ["NBK1295"]} |
Townes–Brocks syndrome
This condition is inherited in an autosomal dominant manner
SpecialtyMedical genetics
Townes–Brocks syndrome[1] (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally.[2] The condition wa... | Townes–Brocks syndrome | c0265246 | 4,689 | wikipedia | https://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome | 2021-01-18T18:34:16 | {"gard": ["7784"], "mesh": ["C536974"], "umls": ["CN034849", "C0265246"], "icd-10": ["Q87.8"], "orphanet": ["857"], "wikidata": ["Q385774"]} |
"Cocaine syndrome" redirects here. For the substance, see cocaine. For other uses, see Cockayne (disambiguation).
Cockayne syndrome
Other namesNeill-Dingwall syndrome
SpecialtyMedical genetics, neurology, dermatology
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autoso... | Cockayne syndrome | c0009207 | 4,690 | wikipedia | https://en.wikipedia.org/wiki/Cockayne_syndrome | 2021-01-18T19:03:16 | {"gard": ["6122"], "mesh": ["D003057"], "umls": ["C0009207"], "orphanet": ["90322", "90324", "90321", "191"], "wikidata": ["Q914389"]} |
Normochromic anemia
This condition entails insufficient numbers of red blood cell
SpecialtyHematology
Normochromic anemia is a form of anemia in which the concentration of hemoglobin in the red blood cells is within the standard range, but there is an insufficient number of red blood cells. Conditions wh... | Normochromic anemia | c0235983 | 4,691 | wikipedia | https://en.wikipedia.org/wiki/Normochromic_anemia | 2021-01-18T18:38:16 | {"umls": ["C0235983"], "wikidata": ["Q3343910"]} |
Organic mental disorder caused by late-stage syphilis
This article is about the neuropsychiatric disorder. For the physical malady, paralysis, see paresis.
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may b... | General paresis of the insane | c0205858 | 4,692 | wikipedia | https://en.wikipedia.org/wiki/General_paresis_of_the_insane | 2021-01-18T18:53:28 | {"mesh": ["D009494"], "umls": ["C0205858"], "icd-9": ["094.1", "090.40"], "icd-10": ["A52.1"], "wikidata": ["Q1932655"]} |
Infection by herpes simplex viruses of the genitals
Genital herpes
Other namesAnogenital herpesviral infection, herpes genitalis
An outbreak of genital herpes affecting the vulva
SpecialtyInfectious disease
SymptomsNone, small blisters that break open to form painful ulcers, flu-like symptoms[1][2]
Com... | Genital herpes | c0019342 | 4,693 | wikipedia | https://en.wikipedia.org/wiki/Genital_herpes | 2021-01-18T19:05:20 | {"mesh": ["D006558"], "umls": ["C0019342"], "icd-10": ["A60"], "wikidata": ["Q7476596"]} |
A number sign (#) is used with this entry because this form of nonsyndromic X-linked mental retardation is caused by mutation in the gene encoding p21-activated kinase-3 (PAK3; 300142).
Clinical Features
Des Portes et al. (1997) reported a French family in which 6 males in 2 generations had nonsyndromic X-linke... | MENTAL RETARDATION, X-LINKED 30 | c2931498 | 4,694 | omim | https://www.omim.org/entry/300558 | 2019-09-22T16:20:06 | {"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300558"], "orphanet": ["777"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED 47"]} |
Abnormally large head size
This article is in list format, but may read better as prose. You can help by converting this article, if appropriate. Editing help is available. (May 2020)
Macrocephaly
An MRI of a patient with benign familial macrocephaly (male with head circumference > 60cm)
SpecialtyMedical ge... | Macrocephaly | c0220690 | 4,695 | wikipedia | https://en.wikipedia.org/wiki/Macrocephaly | 2021-01-18T18:49:11 | {"gard": ["147"], "mesh": ["C537717"], "umls": ["C0220690"], "icd-9": ["756.0"], "icd-10": ["Q75.3"], "wikidata": ["Q635339"]} |
Spectators' banner during the Tour de France 2006
Part of a series on
Doping in sport
Substances and types
* Anabolic steroids
* Blood doping
* Gene doping
* Cannabinoids
* Diuretics
* Painkillers
* Sedatives
* Stem cell doping
* Stimulants
* Beta2-adrenergic agonist
* Clenbut... | Doping at the Tour de France | None | 4,696 | wikipedia | https://en.wikipedia.org/wiki/Doping_at_the_Tour_de_France | 2021-01-18T18:52:56 | {"wikidata": ["Q2153457"]} |
## Clinical Features
Capella et al. (1963) reported a family in which 12 persons in 4 generations had microphthalmia and congenital cataract; 3 affected individuals also had mental retardation. No instance of male-to-male transmission was noted, but the ratio of affected to unaffected was 1:1, consistent with a... | MICROPHTHALMIA, ISOLATED, WITH CATARACT 1 | c1855052 | 4,697 | omim | https://www.omim.org/entry/156850 | 2019-09-22T16:38:12 | {"mesh": ["C565377"], "omim": ["251600", "156850"], "orphanet": ["2542"], "synonyms": ["CATARACT, CONGENITAL, WITH MICROPHTHALMIA", "Microphthalmia-anophthalmia-coloboma spectrum", "Isolated anophthalmia-microphthalmia syndrome", "Alternative titles", "MAC spectrum"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (November 2015)
Flaccid dysarthria
SpecialtyNeurology
Flaccid dysarthria is a motor speech disorder resulting from damage to peripheral nervous sys... | Flaccid dysarthria | c0454597 | 4,698 | wikipedia | https://en.wikipedia.org/wiki/Flaccid_dysarthria | 2021-01-18T18:43:43 | {"mesh": ["D004401"], "wikidata": ["Q25111774"]} |
Type of vaginal discharge
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Leukorrhea" – news · newspapers · books · scholar · JSTOR (January 2019) (Learn how and when... | Leukorrhea | c0023533 | 4,699 | wikipedia | https://en.wikipedia.org/wiki/Leukorrhea | 2021-01-18T18:34:38 | {"mesh": ["D007973"], "umls": ["C0023533"], "icd-9": ["623.5"], "wikidata": ["Q1144334"]} |
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