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Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.
## Epidemiology
Prevalence is unknown. Only 8 cases have been reported.
## Clinical description
Patients present with a hist... | Bile acid CoA ligase deficiency and defective amidation | c4274079 | 300 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276066 | 2021-01-23T18:53:35 | {"icd-10": ["K76.8"]} |
A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.
*[v]... | X-linked spastic paraplegia type 16 | c1846046 | 301 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100997 | 2021-01-23T17:02:00 | {"gard": ["9585"], "mesh": ["C536643"], "omim": ["300266"], "umls": ["C1846046"], "icd-10": ["G11.4"], "synonyms": ["SPG16"]} |
Occupational cancer is cancer caused by occupational hazards. Several cancers have been directly tied to occupational hazards, including chimney sweeps' carcinoma, mesothelioma, and others.
## Contents
* 1 Common occupational hazards implicated in cancer
* 2 Occupational cancers
* 3 Epidemiology
* 4 Prevent... | Occupational cancer | c1335101 | 302 | wikipedia | https://en.wikipedia.org/wiki/Occupational_cancer | 2021-01-18T18:36:25 | {"wikidata": ["Q2936210"]} |
Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. The main symptom is continual peeling of the skin. The peeling skin is usually painless. Additional symptoms may depend on the form of PSS. Some people with PSS have itching, redness, and scarring. The symptoms of PS... | Peeling skin syndrome | c1849193 | 303 | gard | https://rarediseases.info.nih.gov/diseases/7347/peeling-skin-syndrome | 2021-01-18T17:58:24 | {"mesh": ["C564818"], "omim": ["270300"], "umls": ["C1849193"], "orphanet": ["817"], "synonyms": ["Keratolysis exfoliativa congenita", "Familial continuous skin peeling", "Skin peeling syndrome", "Deciduous skin", "Familial continuous skin peeling syndrome", "Idiopathic deciduous skin", "Keratosis exfoliativa congenita... |
Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.
## Epidemiology
Prevalence is unknown. NHS is a rare but probably underdiagnosed disorder; 36 families have been reported in the literature.
## Clinical... | Nance-Horan syndrome | c0796085 | 304 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=627 | 2021-01-23T18:29:58 | {"gard": ["7161"], "mesh": ["C538336"], "omim": ["302350"], "umls": ["C0796085"], "icd-10": ["Q87.0"]} |
Solid pseudopapillary tumour
Other namesSolid pseudopapillary neoplasm, solid pseudopapillary tumour/neoplasm of the pancreas, Frantz's tumour
Micrograph of a solid pseudopapillary tumour. H&E stain.
SpecialtyOncology
A solid pseudopapillary tumour is a low-grade malignant neoplasm of the pancreas of papil... | Solid pseudopapillary tumour | c1336029 | 305 | wikipedia | https://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour | 2021-01-18T18:44:25 | {"umls": ["C1336029"], "orphanet": ["424065"], "wikidata": ["Q7557926"]} |
Retinoblastoma (RB) is a rare type of eye cancer in the retina that typically develops before the age of 5. It usually affects only one eye, but 1/3 of children with RB develop cancer in both eyes. The first sign is typically a visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is parti... | Retinoblastoma | c0035335 | 306 | gard | https://rarediseases.info.nih.gov/diseases/7563/retinoblastoma | 2021-01-18T17:57:56 | {"mesh": ["D012175"], "omim": ["180200"], "orphanet": ["790"], "synonyms": ["RB", "Retinal tumor", "Retinal cancer", "Eye cancer, retinoblastoma"]} |
This article is about the infection. For the organism, see Fasciola.
Not to be confused with Fasciolopsis.
A parasitic worm infection
Fasciolosis
Other namesFascioliasis, fasciolasis, distomatosis, liver rot
Fasciola hepatica
SpecialtyInfectious disease, hepatology
SymptomsAbdominal pain, nausea, yellow sk... | Fasciolosis | c0015652 | 307 | wikipedia | https://en.wikipedia.org/wiki/Fasciolosis | 2021-01-18T18:30:31 | {"gard": ["6428"], "mesh": ["D005211"], "umls": ["C0015652"], "wikidata": ["Q6972442"]} |
Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the ... | Donnai-Barrow syndrome | c1857277 | 308 | gard | https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome | 2021-01-18T18:00:50 | {"mesh": ["C536390"], "omim": ["222448"], "umls": ["C1857277"], "orphanet": ["2143"], "synonyms": ["Faciooculoacousticorenal syndrome", "DBS/FOAR syndrome", "Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria"]} |
Third-degree atrioventricular block
Other namesComplete heart block
12-lead ECG showing complete heart block
SpecialtyCardiology
SymptomsDizziness, Fainting, Shortness of breath
CausesFibrosis in cardiac conduction system, myocardial infarction, post-cardiac surgery, medication, vagal tone, electrolyte dist... | Third-degree atrioventricular block | c0151517 | 309 | wikipedia | https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block | 2021-01-18T18:46:09 | {"umls": ["C0151517"], "icd-9": ["426.0"], "icd-10": ["I44.2"], "wikidata": ["Q3640984"]} |
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and an inability to grow or gain weight at the expected rate (failu... | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome | c1850407 | 310 | medlineplus | https://medlineplus.gov/genetics/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome/ | 2021-01-27T08:25:08 | {"gard": ["3972"], "mesh": ["C538344"], "omim": ["256810"], "synonyms": []} |
## Description
Proteins of the SPRR family are components of the cornified cell envelope, which provides the protective barrier function of stratified squamous epithelial cells. However, SPRR2C contains a premature stop codon and appears to be a pseudogene (Gibbs et al., 1993; Cabral et al., 2001).
Cloning and Exp... | SMALL PROLINE-RICH PROTEIN 2C, PSEUDOGENE | None | 311 | omim | https://www.omim.org/entry/182269 | 2019-09-22T16:34:47 | {"omim": ["182269"]} |
Cerebellar stroke syndrome
The three major arteries of the cerebellum: the SCA, AICA, and PICA
SpecialtyNeurology
Left sided cerebellar stroke due to occlusion of a vertebral artery
Cerebellar stroke syndrome is a condition in which the circulation to the cerebellum is impaired due to a lesion of the superi... | Cerebellar stroke syndrome | c0451672 | 312 | wikipedia | https://en.wikipedia.org/wiki/Cerebellar_stroke_syndrome | 2021-01-18T18:48:53 | {"icd-9": ["434.91"], "icd-10": ["G46.4"], "wikidata": ["Q5064077"]} |
A number sign (#) is used with this entry because the Russe type of hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease type 4G (CMT4G), is caused by homozygous mutation in the HK1 gene (142600) on chromosome 10q22.
For a discussion of genetic heterogeneity of autosomal recessive h... | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE | c1854449 | 313 | omim | https://www.omim.org/entry/605285 | 2019-09-22T16:11:26 | {"doid": ["0110196"], "mesh": ["C535813"], "omim": ["605285"], "orphanet": ["99953"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4G", "CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4G", "HEREDITARY MOTOR AND SENSORY NEUROPATHY, RUSSE TYPE", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G"]} |
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Infantile acne" – news · newspapers · books · scholar · JSTOR (November 2020)
Infantile acne
Specialty... | Infantile acne | c0263437 | 314 | wikipedia | https://en.wikipedia.org/wiki/Infantile_acne | 2021-01-18T18:52:39 | {"icd-10": ["L70.4"], "wikidata": ["Q341991"]} |
Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of ... | Prothrombin deficiency | c0272317 | 315 | medlineplus | https://medlineplus.gov/genetics/condition/prothrombin-deficiency/ | 2021-01-27T08:25:33 | {"gard": ["2926"], "mesh": ["C562724"], "omim": ["613679"], "synonyms": []} |
Human viral disease
Rift Valley fever
TEM micrograph of tissue infected with Rift Valley fever virus
SpecialtyInfectious disease
SymptomsFever, muscle pains, headaches[1]
ComplicationsLoss of sight, confusion, bleeding, liver problems[1]
DurationUp to a week[1]
CausesPhlebovirus spread by an infected ani... | Rift Valley fever | c0035613 | 316 | wikipedia | https://en.wikipedia.org/wiki/Rift_Valley_fever | 2021-01-18T18:47:10 | {"mesh": ["D012295"], "umls": ["C0035613"], "icd-9": ["066.3"], "orphanet": ["319251"], "wikidata": ["Q326638"]} |
## Clinical Features
Abou Jamra et al. (2011) reported a consanguineous Syrian family (MR019) in which 4 individuals had nonsyndromic mental retardation. Symptoms included mild motor delay, moderate intellectual disability, and single word speech. Three patients had early-onset epilepsy.
Mapping
Najmabadi et ... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10 | c1970194 | 317 | omim | https://www.omim.org/entry/611096 | 2019-09-22T16:03:38 | {"doid": ["0060308"], "mesh": ["C567013"], "omim": ["611096"], "orphanet": ["88616"], "synonyms": ["MENTAL RETARDATION, AUTOSOMAL RECESSIVE 20", "Alternative titles", "NS-ARID", "AR-NSID"]} |
Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pres... | Trigeminal neuralgia | c0040997 | 318 | gard | https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia | 2021-01-18T17:57:18 | {"mesh": ["D014277"], "omim": ["190400"], "umls": ["C0040997"], "orphanet": ["221091"], "synonyms": ["Tic Douloureux"]} |
Mouse egasyn, a 64-kD luminal endoplasmic reticulum (ER) glycoprotein, has dual functions. In tissues such as the liver, kidney, and submandibular gland, binding by egasyn sequesters beta-glucuronidase in the ER. Also, egasyn is identical to esterase-22, one of a family of mouse carboxylesterases with broad specifici... | EGASYN | None | 319 | omim | https://www.omim.org/entry/129905 | 2019-09-22T16:41:48 | {"omim": ["129905"], "synonyms": ["Alternative titles", "ESTERASE 22"]} |
Acatalasia
Other namesAcatalasemia, or Takahara's disease[1]:809
Basic structure of a peroxisome
SpecialtyEndocrinology
Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the enzyme catalase.[2] Catalase breaks down hydrogen peroxide in cells into water and oxy... | Acatalasia | c0268419 | 320 | wikipedia | https://en.wikipedia.org/wiki/Acatalasia | 2021-01-18T19:04:57 | {"gard": ["363"], "mesh": ["D020642"], "umls": ["C0268419"], "icd-9": ["277.89"], "icd-10": ["E80.3"], "orphanet": ["926"], "wikidata": ["Q3273331"]} |
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: "Hyperkeratinization" – news · newspapers · books · scholar · JSTOR (December 2009) (Learn how and when to remove th... | Hyperkeratinization | None | 321 | wikipedia | https://en.wikipedia.org/wiki/Hyperkeratinization | 2021-01-18T18:41:42 | {"wikidata": ["Q5958197"]} |
A number sign (#) is used with this entry because Andersen-Tawil syndrome is caused by heterozygous mutation in the KCNJ2 gene (600681) on chromosome 17q24.
Description
Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and di... | ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS | c1563715 | 322 | omim | https://www.omim.org/entry/170390 | 2019-09-22T16:36:29 | {"doid": ["0050434"], "mesh": ["D050030"], "omim": ["170390"], "orphanet": ["37553"], "synonyms": ["Alternative titles", "ANDERSEN SYNDROME", "LONG QT SYNDROME 7", "ANDERSEN-TAWIL SYNDROME", "PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE"], "genereviews": ["NBK1264", "NBK1129"]} |
Metabolic medical condition
Lactic acidosis
L-(+)-lactic acid
SpecialtyEndocrinology
Lactic acidosis is a medical condition characterized by the buildup of lactate (especially L-lactate) in the body, with formation of an excessively low pH in the bloodstream. It is a form of metabolic acidosis, in which exc... | Lactic acidosis | c0001125 | 323 | wikipedia | https://en.wikipedia.org/wiki/Lactic_acidosis | 2021-01-18T18:52:03 | {"mesh": ["D000140"], "umls": ["C0001125"], "icd-9": ["276.2"], "wikidata": ["Q1500373"]} |
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 2017)
Portopulmonary hypertension
Other namesPulmonary arterial hypertension associated with portal hypertension
SpecialtyPulmonology
... | Portopulmonary hypertension | c1868851 | 324 | wikipedia | https://en.wikipedia.org/wiki/Portopulmonary_hypertension | 2021-01-18T18:28:11 | {"umls": ["C1868851"], "orphanet": ["275813"], "wikidata": ["Q7232210"]} |
A number sign (#) is used with this entry because of evidence that Rahman syndrome (RMNS) is caused by heterozygous mutation in the HIST1H1E gene (142220) on chromosome 6p22.
Description
Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manife... | RAHMAN SYNDROME | c4479637 | 325 | omim | https://www.omim.org/entry/617537 | 2019-09-22T15:45:36 | {"omim": ["617537"]} |
Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence,... | Childhood disintegrative disorder | c0236791 | 326 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168782 | 2021-01-23T18:47:56 | {"gard": ["6040"], "umls": ["C0236791"], "icd-10": ["F84.3"], "synonyms": ["Dementia infantilis", "Heller syndrome"]} |
Childhood granulomatous periorificial dermatitis
Other namesGianotti-type perioral dermatitis or Facial Afro-Caribbean childhood eruption
SpecialtyDermatology
Childhood granulomatous periorificial dermatitis (CGPD), is a rare benign granulomatous skin disease of unknown cause.[1] The disorder was first descr... | Childhood granulomatous periorificial dermatitis | None | 327 | wikipedia | https://en.wikipedia.org/wiki/Childhood_granulomatous_periorificial_dermatitis | 2021-01-18T18:53:48 | {"wikidata": ["Q30314291"]} |
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.
*[v]: View this t... | NPHP3-related Meckel-like syndrome | c2673885 | 328 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3032 | 2021-01-23T18:04:36 | {"gard": ["4665"], "mesh": ["C537756"], "omim": ["267010"], "umls": ["C2673885"], "icd-10": ["Q61.9"], "synonyms": ["Goldston syndrome", "Meckel syndrome type 7", "Meckel-like syndrome type 1", "Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome"]} |
## Summary
### Clinical characteristics.
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes:
* Metaphyseal dysplasia without hypotrichosis (MDWH)
* Cartilage-hair hypoplasia (CHH)
* Anauxetic dysplasia (AD)
CHH-AD spectrum... | Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders | None | 329 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK84550/ | 2021-01-18T21:36:17 | {"synonyms": []} |
Adipsia
Other nameshypodipsia
Molecular structure of vasopressin. This hormone is related to Type A and Type B adipsia.
Adipsia, also known as hypodipsia, is a symptom of inappropriately decreased or absent feelings of thirst.[1][2] It involves an increased osmolality or concentration of solute in the urine,... | Adipsia | c0277967 | 330 | wikipedia | https://en.wikipedia.org/wiki/Adipsia | 2021-01-18T18:50:53 | {"wikidata": ["Q357522"]} |
Congenital dermal sinus
Other namesSpinal congenital dermal sinus
Vertebral column
Congenital dermal sinus is an uncommon form of cranial or spinal dysraphism.[1][2] It occurs in 1 in 2500 live births.[2] It occurs as a dermal indentation, found along the midline of the neuraxis and often presents alongs... | Congenital dermal sinus | c0011599 | 331 | wikipedia | https://en.wikipedia.org/wiki/Congenital_dermal_sinus | 2021-01-18T18:34:18 | {"mesh": ["D016136"], "umls": ["C0011599"], "wikidata": ["Q18612558"]} |
## Summary
### Clinical characteristics.
Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, may present as a severe neonatal-onset form and a late-onset form:
* The severe neonatal-onset form is cha... | Argininosuccinate Lyase Deficiency | c0268547 | 332 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK51784/ | 2021-01-18T21:42:50 | {"mesh": ["D056807"], "synonyms": ["Argininosuccinic Acid Lyase Deficiency", "Argininosuccinic Aciduria", "ASLD"]} |
Iridodialysis
Other namesCoredialysis
Iridodialysis caused by blunt trauma to the eye
SpecialtyOphthalmology
Iridodialysis, is a localized separation or tearing away of the iris from its attachment to the ciliary body.[1][2]
## Contents
* 1 Symptoms and signs
* 1.1 Complications
* 2 Causes
* 3 ... | Iridodialysis | c0152246 | 333 | wikipedia | https://en.wikipedia.org/wiki/Iridodialysis | 2021-01-18T18:59:42 | {"umls": ["C0152246"], "icd-9": ["364.76"], "icd-10": ["H21.5"], "wikidata": ["Q5927780"]} |
A number sign (#) is used with this entry because Hurler-Scheie syndrome is caused by homozygous or compound heterozygous mutation in the gene encoding alpha-L-iduronidase (IDUA; 252800) on chromosome 4p16.
Description
The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lys... | HURLER-SCHEIE SYNDROME | c0086431 | 334 | omim | https://www.omim.org/entry/607015 | 2019-09-22T16:09:47 | {"doid": ["12802"], "mesh": ["D008059"], "omim": ["607015"], "icd-10": ["E76.02"], "orphanet": ["93476", "579"], "synonyms": ["Alternative titles", "MUCOPOLYSACCHARIDOSIS TYPE IH/S"], "genereviews": ["NBK1162"]} |
A number sign (#) is used with this entry because of evidence that combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus (ACPHD) is caused by homozygous mutation in the DNAJC3 gene (601184) on chromosome 13q32. One such family has been reported.
Clinical Features
Synofzik et al. (2014) r... | ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS | c4015436 | 335 | omim | https://www.omim.org/entry/616192 | 2019-09-22T15:49:43 | {"omim": ["616192"], "orphanet": ["445062"], "synonyms": ["Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome"]} |
Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual developmen... | Spastic ataxia-corneal dystrophy syndrome | c1849085 | 336 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2572 | 2021-01-23T19:05:39 | {"gard": ["3795"], "mesh": ["C536989"], "omim": ["271320"], "umls": ["C1849085"], "icd-10": ["G11.8"], "synonyms": ["Bedouin spastic ataxia syndrome", "Mousa-Al Din-Al Nassar syndrome", "Spastic ataxia-ocular anomalies syndrome"]} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 15q14. The deleted region includes the MEIS2 gene (601740).
Clinical Features
Erdogan et al. (2007) reported a 4-year-old girl who presented at birth with cleft palate, atrial septal defect, and hypoton... | CHROMOSOME 15q14 DELETION SYNDROME | c4225666 | 337 | omim | https://www.omim.org/entry/616898 | 2019-09-22T15:47:31 | {"omim": ["616898"], "orphanet": ["261190"], "synonyms": ["Del(15)(q14)", "Monosomy 15q14"]} |
Braxy is an infectious disease which causes sudden death in sheep. It is caused by the bacterium Clostridium septicum.
Braxy generally occurs in winter, when sheep eat frosted root crops,[1] or frosted grass.[2] The frozen feed damages the mucosa (lining) of the abomasum, allowing C. septicum to enter, causing aboma... | Braxy | c0275618 | 338 | wikipedia | https://en.wikipedia.org/wiki/Braxy | 2021-01-18T18:53:58 | {"wikidata": ["Q1781300"]} |
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested... | Absent thumb-short stature-immunodeficiency syndrome | c1848818 | 339 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2951 | 2021-01-23T18:56:02 | {"mesh": ["C564770"], "omim": ["274190"], "umls": ["C1848818"], "icd-10": ["D82.8"]} |
## Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion... | MYOPIA 17, AUTOSOMAL DOMINANT | c3888211 | 340 | omim | https://www.omim.org/entry/608367 | 2019-09-22T16:07:56 | {"omim": ["608367"], "synonyms": ["Alternative titles", "MYOPIA 4, FORMERLY"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive primary microcephaly-8 (MCPH8) is caused by homozygous mutation in the CEP135 gene (611423) on chromosome 4q.
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (25120... | MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE | c3711387 | 341 | omim | https://www.omim.org/entry/614673 | 2019-09-22T15:54:34 | {"doid": ["0070282"], "mesh": ["C579935"], "omim": ["614673"], "orphanet": ["2512"]} |
Spindle cell rhabdomyosarcoma is a subtype of embryonal rhabdomyosarcoma first described by Cavazzana, Schmidt and Ninfo in 1992.[1] This subtype has a more favorable clinical course and prognosis than usual embryonal rhabdomyosarcoma. Spindle cell rhabdomyosarcoma typically occurs in young males and most commonly oc... | Spindle cell rhabdomyosarcoma | c1266134 | 342 | wikipedia | https://en.wikipedia.org/wiki/Spindle_cell_rhabdomyosarcoma | 2021-01-18T19:07:16 | {"umls": ["C1266134"], "wikidata": ["Q7577499"]} |
Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an... | Lynch syndrome | c1527249 | 343 | medlineplus | https://medlineplus.gov/genetics/condition/lynch-syndrome/ | 2021-01-27T08:25:23 | {"gard": ["9905"], "mesh": ["D015179"], "omim": ["114500", "120435"], "synonyms": []} |
Ischemic Cardiomyopathy
Atherosclerosis one of the causes of this condition
Pronunciation
* /ɪˈskiːmɪk/
SpecialtyCardiology
SymptomsSudden fatigue
CausesAtherosclerosis, Vasospasm[1]
Diagnostic methodMRI[2]
TreatmentPercutaneous intervention[3]
Ischemic cardiomyopathy is a type of cardiomyo... | Ischemic cardiomyopathy | c0349782 | 344 | wikipedia | https://en.wikipedia.org/wiki/Ischemic_cardiomyopathy | 2021-01-18T18:56:38 | {"wikidata": ["Q12075432"]} |
Satoyoshi syndrome
Other namesKomuragaeri disease
SpecialtyImmunology
Satoyoshi syndrome, also known as Komura-Guerri syndrome, is a rare progressive disorder of presumed autoimmune cause, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary skeletal a... | Satoyoshi syndrome | c1833454 | 345 | wikipedia | https://en.wikipedia.org/wiki/Satoyoshi_syndrome | 2021-01-18T18:50:49 | {"gard": ["160"], "mesh": ["C536616"], "umls": ["C1833454"], "orphanet": ["3130"], "wikidata": ["Q7426433"]} |
Attenuated familial adenomatous polyposis
Other namesAttenuated familial polyposis coli
SpecialtyOncology
Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer syndrome. It is a pre-malignant disease that can develop into colorectal cancer. A patient will have fe... | Attenuated familial adenomatous polyposis | c2674616 | 346 | wikipedia | https://en.wikipedia.org/wiki/Attenuated_familial_adenomatous_polyposis | 2021-01-18T18:32:41 | {"gard": ["8532"], "mesh": ["C538265"], "umls": ["C2674616"], "orphanet": ["220460"], "wikidata": ["Q4818237"]} |
## Clinical Features
Blom et al. (1981) reported a newborn girl with hypotonic myopathy, severe brain damage, and poor growth. On a carbohydrate-rich diet, she had urinary excretion of hexanoic acid, including 2-ethyl-3-keto-hexanoic acid, 2-ethyl-3-hydroxy-hexanoic acid, and 2-ethyl-hexanedioic acid. Liver bio... | ACETYL-CoA CARBOXYLASE DEFICIENCY | c0268603 | 347 | omim | https://www.omim.org/entry/613933 | 2019-09-22T15:57:01 | {"mesh": ["C562678"], "omim": ["613933"], "synonyms": ["Alternative titles", "ACACA DEFICIENCY", "ACC1 DEFICIENCY"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive intellectual developmental disorder-68 (MRT68) is caused by homozygous mutation in the TRMT1 gene (611669) on chromosome 19p13.
Clinical Features
Najmabadi et al. (2011) reported a consanguineous Iranian family (M300) in which 5 ... | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 | None | 348 | omim | https://www.omim.org/entry/618302 | 2019-09-22T15:42:40 | {"omim": ["618302"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 68"]} |
A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.
## Epidemiology
Biliary atresia (BA) prevalence at birth is 1/ 15,000-1... | Isolated biliary atresia | c0005411 | 349 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=30391 | 2021-01-23T17:40:32 | {"gard": ["12010"], "mesh": ["D001656"], "omim": ["210500"], "umls": ["C0005411"], "icd-10": ["Q44.2"], "synonyms": ["Isolated atresia of bile ducts", "Non-syndromic biliary atresia"]} |
Kenya has a severe, generalized HIV epidemic, but in recent years, the country has experienced a notable decline in HIV prevalence, attributed in part to significant behavioral change and increased access to ART(antiretroviral drugs). Adult HIV prevalence is estimated to have fallen from 10 percent in the late 1990s ... | HIV/AIDS in Kenya | None | 350 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Kenya | 2021-01-18T18:33:09 | {"wikidata": ["Q5629852"]} |
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among othe... | Mandibulofacial dysostosis with alopecia | c4225349 | 351 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=443995 | 2021-01-23T18:13:23 | {"omim": ["616367"], "icd-10": ["Q75.4"], "synonyms": ["MFDA"]} |
A number sign (#) is used with this entry because of evidence that hyperglycinuria can be caused by heterozygous mutation in the SLC36A2 gene (608331).
Description
The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; 242600), a benign inborn er... | HYPERGLYCINURIA | c0543541 | 352 | omim | https://www.omim.org/entry/138500 | 2019-09-22T16:40:38 | {"mesh": ["C563009"], "omim": ["138500"], "synonyms": ["Alternative titles", "GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS", "GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS", "IMINOGLYCINURIA TYPE II"]} |
For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see 606641.
Mapping
To identify regions that are likely to harbor quantitative trait loci (QTLs) for body mass index, Feitosa et al. (2002) conducted an autosomal genome scan for BMI through use of a variance-components... | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2 | c1847733 | 353 | omim | https://www.omim.org/entry/606643 | 2019-09-22T16:10:16 | {"omim": ["606643"]} |
Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit... | Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome | None | 354 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91133 | 2021-01-23T17:51:51 | {"icd-10": ["Q87.5"], "synonyms": ["Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome"]} |
What follows is a list of all the athletes that have tested positive for a banned substance either during or before an Asian Games in which they competed. Any medals listed were revoked.
## Contents
* 1 Asian Games
* 1.1 1974 Tehran
* 1.2 1994 Hiroshima
* 1.3 1998 Bangkok
* 1.4 2002 Busan
* 1.... | Doping at the Asian Games | None | 355 | wikipedia | https://en.wikipedia.org/wiki/Doping_at_the_Asian_Games | 2021-01-18T18:36:01 | {"wikidata": ["Q17085227"]} |
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: "Traumatic cardiac arrest" – news · newspapers · books · scholar · JSTOR (February 2012) (Learn how and when to remove t... | Traumatic cardiac arrest | None | 356 | wikipedia | https://en.wikipedia.org/wiki/Traumatic_cardiac_arrest | 2021-01-18T18:38:54 | {"wikidata": ["Q7835828"]} |
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.
## Epidemiology
Prevalence is unknown.
## Clinical d... | Adult neuronal ceroid lipofuscinosis | c0022797 | 357 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79262 | 2021-01-23T18:23:16 | {"gard": ["10973"], "mesh": ["C537950", "D009472"], "omim": ["162350", "204300", "256730", "601780", "610127", "614706", "615362"], "umls": ["C0022797", "C2931675"], "icd-10": ["E75.4"], "synonyms": ["ANCL", "Adult NCL", "Kufs disease"]} |
A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD7B) is caused by homozygous or compound heterozygous mutation in the PEX26 gene (608666) on chromosome 22q11.21. Mutation in PEX26 also causes Zellweger syndrome (PBD7A; 614872).
Description
The overlapping phenotypes ... | PEROXISOME BIOGENESIS DISORDER 7B | c0282527 | 358 | omim | https://www.omim.org/entry/614873 | 2019-09-22T15:53:58 | {"mesh": ["D052919"], "omim": ["614873"], "orphanet": ["772", "44"]} |
This article is about the congenital endocrine and muscular disorder. For the vascular condition, see Abdominal aortic aneurysm.
Triple A syndrome
Other namesAchalasia–addisonianism–alacrima syndrome or Allgrove syndrome[1]
MRI of the brain of 12-year-old boy with triple-A syndrome showing hypoplastic lacrimal g... | Triple-A syndrome | c0271742 | 359 | wikipedia | https://en.wikipedia.org/wiki/Triple-A_syndrome | 2021-01-18T19:03:16 | {"gard": ["457"], "mesh": ["C536008"], "icd-10": ["E27.4"], "wikidata": ["Q7843329"]} |
A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual dis... | Spontaneous intracranial hypotension | c0751731 | 360 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=443180 | 2021-01-23T16:57:31 | {"mesh": ["D019585"], "umls": ["C0751731", "C3544264", "C3850067"], "icd-10": ["G96.0"], "synonyms": ["Spontaneous cerebrospinal fluid leak"]} |
Pelvic kidney
SpecialtyNephrology
A pelvic kidney is a normal kidney located in the pelvis, instead of the abdomen. This occurs when a kidney does not ascend from its original location in the pelvis to its final location during fetal development. Typically, the kidney functions normally despite being in the wr... | Pelvic kidney | c0221209 | 361 | wikipedia | https://en.wikipedia.org/wiki/Pelvic_kidney | 2021-01-18T18:44:48 | {"umls": ["C0221209"], "wikidata": ["Q7161802"]} |
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
## Epidemiology
The syndrome has been described a large eight-gen... | Spondyloepimetaphyseal dysplasia, PAPSS2 type | c2748515 | 362 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93282 | 2021-01-23T16:58:22 | {"mesh": ["C567551"], "omim": ["612847"], "umls": ["C2748515"], "icd-10": ["Q77.7"], "synonyms": ["Spondyloepimetaphyseal dysplasia, Pakistani type"]} |
Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as... | Undifferentiated carcinoma of liver and intrahepatic biliary tract | None | 363 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424970 | 2021-01-23T17:46:17 | {"icd-10": ["C22.0"], "synonyms": ["Undifferentiated carcinoma of liver and IBT"]} |
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent b... | Autosomal dominant severe congenital neutropenia | c1859966 | 364 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=486 | 2021-01-23T17:04:31 | {"gard": ["9558"], "mesh": ["C565969"], "omim": ["202700", "257100", "613107", "618752"], "icd-10": ["D70"]} |
For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see 254770.
Mapping
Greenberg et al. (1987) studied 24 families with JME. Segregation analysis allowed them to reject fully penetrant dominant and recessive models. For the linkage analysis, they assumed a f... | MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3 | c0270853 | 365 | omim | https://www.omim.org/entry/608816 | 2019-09-22T16:07:06 | {"doid": ["0111326"], "mesh": ["D020190"], "omim": ["608816"], "orphanet": ["307"]} |
Hutchinson's teeth
Other namesHutchinson's incisor, Hutchinson's sign or Hutchinson-Boeck teeth
Notched incisors known as Hutchinson's teeth which are characteristic of congenital syphilis
Hutchinson's teeth[1] is a sign of congenital syphilis. Affected people have teeth that are smaller and more widely spac... | Hutchinson's teeth | c0020186 | 366 | wikipedia | https://en.wikipedia.org/wiki/Hutchinson%27s_teeth | 2021-01-18T19:10:13 | {"gard": ["8160"], "mesh": ["D013590"], "umls": ["C0020186"], "wikidata": ["Q1424702"]} |
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.
The signs and symptoms of Jacobsen syndrome vary considerably. Most... | Jacobsen syndrome | c0795841 | 367 | medlineplus | https://medlineplus.gov/genetics/condition/jacobsen-syndrome/ | 2021-01-27T08:25:48 | {"gard": ["307"], "mesh": ["D054868"], "omim": ["147791"], "synonyms": []} |
A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, asso... | Papillary glioneuronal tumor | c2985174 | 368 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251962 | 2021-01-23T17:59:41 | {"umls": ["C2985174"], "synonyms": ["PGNT", "Pseudopapillary ganglioglioneurocytoma", "Pseudopapillary neurocytoma with glial differentiation"]} |
A number sign (#) is used with this entry because of evidence that infantile liver failure syndrome-2 (ILFS2) is caused by homozygous or compound heterozygous mutation in the NBAS gene (608025) on chromosome 2p24.
Description
Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by rec... | INFANTILE LIVER FAILURE SYNDROME 2 | c3809651 | 369 | omim | https://www.omim.org/entry/616483 | 2019-09-22T15:48:52 | {"omim": ["616483"], "orphanet": ["464724"], "synonyms": []} |
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TRIANGLE disease
Other namesTPPII-related immunodeficiency, autoimmuni... | TRIANGLE disease | None | 370 | wikipedia | https://en.wikipedia.org/wiki/TRIANGLE_disease | 2021-01-18T18:34:09 | {"orphanet": ["444463"], "synonyms": ["Evans syndrome associated with primary immunodeficiency", "TPPII deficiency", "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease", "TRIANGLE disease", "Tripeptidyl-peptidase II deficiency"], "wikidat... |
A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis with early-onset deafness (LCAEOD) is caused by heterozygous mutation in the TUBB4B gene (602660) on chromosome 9q34.
Description
Leber congenital amaurosis with early-onset deafness is an autosomal dominant syndrome m... | LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS | c4693498 | 371 | omim | https://www.omim.org/entry/617879 | 2019-09-22T15:44:39 | {"omim": ["617879"]} |
Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and... | Silver syndrome | c2931276 | 372 | medlineplus | https://medlineplus.gov/genetics/condition/silver-syndrome/ | 2021-01-27T08:24:35 | {"gard": ["4219"], "mesh": ["C536644"], "omim": ["270685"], "synonyms": []} |
Bethlem myopathy
Bethlem myopathy has an autosomal dominant pattern of inheritance (autosomal recessive form exists as well[1])
Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI co... | Bethlem myopathy | c1834674 | 373 | wikipedia | https://en.wikipedia.org/wiki/Bethlem_myopathy | 2021-01-18T18:51:03 | {"gard": ["873"], "mesh": ["C535436"], "umls": ["CN029274"], "orphanet": ["610"], "wikidata": ["Q831363"]} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with spasticity and poor growth (NEDSG) is caused by homozygous mutation in the UFC1 gene (610554) on chromosome 1q23.
Clinical Features
Nahorski et al. (2018) reported 8 patients with a severe neurodevelopmental diso... | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH | None | 374 | omim | https://www.omim.org/entry/618076 | 2019-09-22T15:43:45 | {"omim": ["618076"]} |
A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.
## Epidemiology
Less than 30 cases of Dysosteosclerosis have been reported in the literature to date.
## Clinical description
The disease is characterized by sclerosis of the skull base, ribs, clavicles, s... | Dysosteosclerosis | c0432262 | 375 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1782 | 2021-01-23T17:41:28 | {"gard": ["2012"], "mesh": ["C562973"], "omim": ["224300"], "umls": ["C0432262"], "icd-10": ["Q78.8"]} |
A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced.
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... | Subacute cutaneous lupus erythematosus | c0024140 | 376 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163525 | 2021-01-23T16:56:09 | {"mesh": ["D008178"], "umls": ["C0024140"], "icd-10": ["L93.1"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stat... | EVEN-plus syndrome | c4225180 | 377 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=496751 | 2021-01-23T18:41:08 | {"omim": ["616854"], "synonyms": ["Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Gastrointestinal neuroectodermal tumor" – news · newspapers · books · scholar · JSTOR (November 2018) (Learn how and when to remove this ... | Gastrointestinal neuroectodermal tumor | None | 378 | wikipedia | https://en.wikipedia.org/wiki/Gastrointestinal_neuroectodermal_tumor | 2021-01-18T18:35:39 | {"wikidata": ["Q5526840"]} |
The infection rate of HIV/AIDS in Ivory Coast is estimated at 2.70% in adults ages 15–49.[1] Ivory Coast has a generalized HIV epidemic with the highest prevalence rate in the West African region. The prevalence rate appears to have remained relatively stable for the past decade, with recent declines among pregna... | HIV/AIDS in Ivory Coast | None | 379 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Ivory_Coast | 2021-01-18T19:03:24 | {"wikidata": ["Q2881775"]} |
Ménière disease is a disorder of the inner ear that affects balance and hearing. This condition is characterized by sudden episodes of extreme dizziness (vertigo), a roaring sound in the ears (tinnitus), a feeling of pressure or fullness in the ears, and fluctuations in hearing. Episodes are often associated with... | Ménière disease | c0025281 | 380 | medlineplus | https://medlineplus.gov/genetics/condition/meniere-disease/ | 2021-01-27T08:24:48 | {"gard": ["10340"], "mesh": ["D008575"], "omim": ["156000"], "synonyms": []} |
Congenital discontinuity of the oesophagus
Esophageal atresia
Other namesOesophageal atresia
Common anatomical types of esophageal atresia
a) Esophageal atresia with distal tracheoesophageal fistula (86%), Gross C.
b) Isolated esophageal atresia without tracheoesophageal fistula (7%), Gross A.
c) H-type... | Esophageal atresia | c0014850 | 381 | wikipedia | https://en.wikipedia.org/wiki/Esophageal_atresia | 2021-01-18T19:08:27 | {"gard": ["6381"], "mesh": ["D004933"], "umls": ["C0014850"], "icd-9": ["750.3"], "orphanet": ["1199"], "wikidata": ["Q298233"]} |
For a phenotypic description and a discussion of genetic heterogeneity of androgenetic alopecia, see AGA1 (109200).
Mapping
Ellis et al. (2001) compared allele frequencies of 3 androgen receptor gene (AR; 313700) polymorphisms, a StuI restriction fragment length polymorphism (RFLP) and 2 triplet repeat polymorp... | ALOPECIA, ANDROGENETIC, 2 | c2678038 | 382 | omim | https://www.omim.org/entry/300710 | 2019-09-22T16:19:47 | {"mesh": ["C567473"], "omim": ["300710"]} |
endocrinological condition
Euthyroid sick syndrome
Other namesSick euthyroid syndrome (SES); thyroid allostasis in critical illness, tumours, uremia and starvation (TACITUS); nonthyroidal illness syndrome (NTIS); low T3 low T4 syndrome
SpecialtyEndocrinology
Euthyroid sick syndrome (ESS) is a state of adapt... | Euthyroid sick syndrome | c0015190 | 383 | wikipedia | https://en.wikipedia.org/wiki/Euthyroid_sick_syndrome | 2021-01-18T18:32:26 | {"mesh": ["D005067"], "umls": ["C0015190"], "wikidata": ["Q1378921"]} |
Agnathia (also termed hypognathous)[1] is absence of a portion or the entirety of one or both jaws.[1][2] It is a very rare condition.[1]
## See also[edit]
* Micrognathia
## References[edit]
1. ^ a b c Ghom AG; Ghom SA (30 September 2014). Textbook of Oral Medicine. JP Medical Ltd. p. 125. ISBN 978-93-515... | Agnathia | c0685775 | 384 | wikipedia | https://en.wikipedia.org/wiki/Agnathia | 2021-01-18T18:45:32 | {"wikidata": ["Q21071557"]} |
For a discussion of genetic heterogeneity of coronary heart disease (CHD), see 607339.
Mapping
McPherson et al. (2007) used genomewide association scanning to identify a 58-kb interval on chromosome 9p21 that was consistently associated with coronary heart disease in 6 independent samples (more than 23,000 part... | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8 | c1970158 | 385 | omim | https://www.omim.org/entry/611139 | 2019-09-22T16:03:35 | {"omim": ["611139"]} |
A number sign (#) is used with this entry because of evidence that 46,XX sex reversal with dysgenesis of kidney, adrenals, and lungs (SERKAL) is caused by homozygous mutation in the WNT4 gene (603490) on chromosome 1p36. One such family has been reported.
Clinical Features
Mandel et al. (2008) studied a consanguine... | 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS | c2678492 | 386 | omim | https://www.omim.org/entry/611812 | 2019-09-22T16:03:05 | {"mesh": ["C567517"], "omim": ["611812"], "orphanet": ["139466"], "synonyms": ["Alternative titles", "SERKAL SYNDROME"]} |
Baboon syndrome
SpecialtyDermatology
Symmetrical drug-related intertriginous and flexural exanthema (SDRIFE), more popularly known as Baboon syndrome because of its resemblance to the distinctive red buttocks displayed by female baboons, is a systemic contact dermatitis characterized by well-demarcated patches... | Baboon syndrome | c0406284 | 387 | wikipedia | https://en.wikipedia.org/wiki/Baboon_syndrome | 2021-01-18T18:32:10 | {"umls": ["C0406284"], "icd-10": ["L25.1", "L24.4"], "wikidata": ["Q797738"]} |
Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other types ... | Dextrocardia | c0011813 | 388 | gard | https://rarediseases.info.nih.gov/diseases/1827/dextrocardia | 2021-01-18T18:00:53 | {"mesh": ["D003914"], "umls": ["C0011813"], "synonyms": []} |
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features s... | Deafness-epiphyseal dysplasia-short stature syndrome | c1832438 | 389 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3218 | 2021-01-23T19:03:01 | {"gard": ["1688"], "mesh": ["C535928"], "omim": ["601351"], "umls": ["C1832438"], "synonyms": ["Chitty-Hall-Baraitser syndrome", "Hearing loss-epiphyseal dysplasia-short stature syndrome"]} |
Autosomal dominant multiple pterygium syndrome
Other namesDistal arthrogryposis type 8[1]
SpecialtyDermatology
Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion.[2]
## Contents
* 1 Society
* 2 See also
* 3 References
* 4 External links
## Society[edit]... | Autosomal dominant multiple pterygium syndrome | c0265261 | 390 | wikipedia | https://en.wikipedia.org/wiki/Autosomal_dominant_multiple_pterygium_syndrome | 2021-01-18T18:59:25 | {"gard": ["7111"], "mesh": ["C537377"], "umls": ["C0265261"], "orphanet": ["294060", "2990"], "wikidata": ["Q16889762"]} |
A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typical... | Distal hereditary motor neuropathy, Jerash type | c1854023 | 391 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139552 | 2021-01-23T18:41:29 | {"gard": ["10133"], "mesh": ["C535715"], "omim": ["605726"], "umls": ["C1854023"], "icd-10": ["G12.2"], "synonyms": ["Autosomal recessive distal spinal muscular atrophy type 2", "dHMNJ"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-57 (MRD57) is caused by heterozygous mutation in the TLK2 gene (608439) on chromosome 17q23.
Description
MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 | None | 392 | omim | https://www.omim.org/entry/618050 | 2019-09-22T15:43:52 | {"omim": ["618050"]} |
Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor.
Th... | Schwannomatosis | c4048809 | 393 | medlineplus | https://medlineplus.gov/genetics/condition/schwannomatosis/ | 2021-01-27T08:25:07 | {"gard": ["4768"], "omim": ["162091", "615670"], "synonyms": []} |
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
## Epidemiology
Reported prevalence varies widely from 1/8,600 to 1/180,000, probably as a result of differing screening programs.
## Clinical des... | Histidinemia | c0220992 | 394 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2157 | 2021-01-23T18:35:02 | {"gard": ["6661"], "mesh": ["C538320"], "omim": ["235800"], "umls": ["C0220992", "C0268642"], "icd-10": ["E70.8"], "synonyms": ["HAL deficiency", "HIS deficiency", "Histidase deficiency", "Histidine ammonia-lyase deficiency", "Histidinuria", "Hyperhistidinemia"]} |
Clear-cell tumor (any with Clear cells) can refer to:
* clear-cell sarcoma, including
* clear-cell sarcoma of the kidney
* clear-cell carcinoma, all/mostly
* clear-cell adenocarcinoma
Disambiguation page providing links to topics that could be referred to by the same search term
This disambiguation p... | Clear-cell tumor | c1265994 | 395 | wikipedia | https://en.wikipedia.org/wiki/Clear-cell_tumor | 2021-01-18T18:35:18 | {"umls": ["C1265994"], "wikidata": ["Q4000419"]} |
Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusi... | Hendra virus infection | c4505487 | 396 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324632 | 2021-01-23T18:14:15 | {"mesh": ["D045464"], "icd-10": ["B33.8"]} |
Woolly hair nevus
SpecialtyMedical genetics
Woolly hair nevus (alternatively spelled "Wooly hair nevus") is a congenital condition in which hair in a circumscribed area of the scalp is kinked or woolly.[1]
## See also[edit]
* Woolly hair
* Naxos syndrome
* Striate palmoplantar keratoderma, woolly hair,... | Woolly hair nevus | c0343114 | 397 | wikipedia | https://en.wikipedia.org/wiki/Woolly_hair_nevus | 2021-01-18T18:35:36 | {"umls": ["C0343114"], "icd-10": ["Q82.5"], "orphanet": ["79414"], "wikidata": ["Q8033871"]} |
Chemotherapy-induced acral erythema
Other namesPalmar-plantar erythrodysesthesia, palmoplantar erythrodysesthesia, hand-foot syndrome
Pictures of hands on capecitabine
SpecialtyDermatology
Chemotherapy-induced acral erythema is reddening, swelling, numbness and desquamation (skin sloughing or peeling) ... | Chemotherapy-induced acral erythema | c0549410 | 398 | wikipedia | https://en.wikipedia.org/wiki/Chemotherapy-induced_acral_erythema | 2021-01-18T18:41:55 | {"mesh": ["D060831"], "umls": ["C0549410"], "icd-9": ["693.0"], "icd-10": ["Y43.3", "Y43.1"], "wikidata": ["Q593277"]} |
Hypergeusia is a taste disorder where the sense is abnormally heightened.[1][2] It can be associated with a lesion of the posterior fossa and Addison's disease; where a patient will crave for salty and sour taste due to the abnormal loss of ions with urine.[3]
## References[edit]
1. ^ "Definition: hypergeusia... | Hypergeusia | c2609164 | 399 | wikipedia | https://en.wikipedia.org/wiki/Hypergeusia | 2021-01-18T18:34:55 | {"umls": ["C2609164"], "wikidata": ["Q5958019"]} |
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