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## Clinical Features
Heterotaxy results from failure to establish normal left-right (L-R) asymmetry during embryonic development. Other than X-linked visceral heterotaxy (306955), most familial cases are thought to be autosomal recessive. Casey et al. (1996) identified a family in which 4 individuals from 3 generat... | LATERALITY DEFECTS, AUTOSOMAL DOMINANT | c3178805 | 2,600 | omim | https://www.omim.org/entry/601086 | 2019-09-22T16:15:26 | {"mesh": ["D059446"], "omim": ["601086"], "orphanet": ["450"]} |
Fasciola hepatica
Egg of Dicrocoelium sp.
Liver fluke is a collective name of a polyphyletic group of parasitic trematodes under the phylum Platyhelminthes.[1] They are principally parasites of the liver of various mammals, including humans. Capable of moving along the blood circulation, they can occur also in bile... | Liver fluke | None | 2,601 | wikipedia | https://en.wikipedia.org/wiki/Liver_fluke | 2021-01-18T18:50:06 | {"wikidata": ["Q1326939"]} |
Abdominal or chest wall after operations for septic condition.
Chronic undermining burrowing ulcer
Other namesMeleney gangrene, or Meleney's ulcer
SpecialtyDermatology
Chronic undermining burrowing ulcer is a cutaneous condition that is a postoperative, progressive bacterial gangrene.[1]:269 It is seen ... | Chronic undermining burrowing ulcer | c0343023 | 2,602 | wikipedia | https://en.wikipedia.org/wiki/Chronic_undermining_burrowing_ulcer | 2021-01-18T19:06:52 | {"umls": ["C0343023"], "wikidata": ["Q5114006"]} |
Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has... | Medulloepithelioma of the central nervous system | c0334596 | 2,603 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251883 | 2021-01-23T17:48:39 | {"mesh": ["D018242"], "umls": ["C0334596"]} |
Part of a series on
Discrimination
General forms
* Age
* Class (Caste)
* Physical Disability
* Education
* Economic
* Employment
* Genetics
* Hair texture
* Height
* Housing
* Language
* Looks
* Race / Ethnicity / Nationality
* Rank
* Religion
* Sanity
* Sex
* Sexual orient... | Gerontophobia | None | 2,604 | wikipedia | https://en.wikipedia.org/wiki/Gerontophobia | 2021-01-18T18:41:00 | {"wikidata": ["Q2427390"]} |
A catastrophic illness is a severe illness requiring prolonged hospitalization or recovery. Examples would include[1] cancer, leukemia, heart attack or stroke. These illnesses usually involve high costs for hospitals, doctors and medicines and may incapacitate the person from working, creating a financial hardshi... | Catastrophic illness | c0007397 | 2,605 | wikipedia | https://en.wikipedia.org/wiki/Catastrophic_illness | 2021-01-18T18:41:01 | {"mesh": ["D002388"], "wikidata": ["Q5051575"]} |
The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD... | Trichodysplasia-amelogenesis imperfecta syndrome | None | 2,606 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79129 | 2021-01-23T17:22:26 | {} |
Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.
*[v]: View this template
*[t]: Discuss this template
... | Discrete papular lichen myxedematosus | c4273967 | 2,607 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90394 | 2021-01-23T18:31:18 | {"icd-10": ["L98.5"]} |
## Clinical Features
Leroy et al. (2004) described 2 families with a novel form of spondyloepiphyseal dysplasia tarda. The first family consisted of 4 brothers (3 affected), and the second family consisted of an affected brother and sister. Consanguinity in the first family suggested autosomal recessive inheritance... | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE | c1836584 | 2,608 | omim | https://www.omim.org/entry/609223 | 2019-09-22T16:06:29 | {"mesh": ["C563772"], "omim": ["609223"]} |
Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene. Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult ma... | Fournier gangrene | c0238419 | 2,609 | gard | https://rarediseases.info.nih.gov/diseases/10912/fournier-gangrene | 2021-01-18T18:00:26 | {"mesh": ["D018934"], "synonyms": ["Fournier's gangrene"]} |
A number sign (#) is used with this entry because of evidence that hypotrichosis, or woolly hair with or without hypotrichosis, can be caused by homozygous or compound heterozygous mutation in the P2RY5 gene (LPAR6; 609239) on chromosome 13q14.
Description
Hypotrichosis simplex refers to a group of hereditary isola... | HYPOTRICHOSIS 8 | c1854310 | 2,610 | omim | https://www.omim.org/entry/278150 | 2019-09-22T16:21:09 | {"doid": ["0110705"], "mesh": ["C537160"], "omim": ["278150"], "orphanet": ["55654", "170"], "synonyms": ["Alternative titles", "HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3"]} |
A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is ... | Febrile infection-related epilepsy syndrome | c4049262 | 2,611 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163703 | 2021-01-23T18:44:42 | {"gard": ["11005"], "icd-10": ["G40.5"], "synonyms": ["AERRPS", "Acute encephalitis with refractory repetitive partial seizures", "Acute non-herpetic encephalitis with severe refractory status epilepticus", "DESC syndrome", "Devastating epileptic encephalopathy in school-aged children", "FIRES", "Fever-induced refracto... |
Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and inte... | Progressive encephalopathy with leukodystrophy due to DECR deficiency | c1857252 | 2,612 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=431361 | 2021-01-23T19:09:52 | {"gard": ["10327"], "mesh": ["C565624"], "omim": ["616034"], "umls": ["C1857252"], "icd-10": ["G31.8"], "synonyms": ["2,4-dienoyl-CoA reductase deficiency", "DECR deficiency with hyperlysinemia"]} |
Schwannoma
Other namesneurilemoma,[1]:621 neuroma,[2] neurolemoma,[2] Schwann cell tumor[2]
Micrograph of a schwannoma showing both a cellular Antoni A area (top) and a loose paucicellular Antoni B area (bottom). HE stain.
SpecialtyOncology
A schwannoma is a usually benign nerve sheath tumor composed of Sc... | Schwannoma | c0027809 | 2,613 | wikipedia | https://en.wikipedia.org/wiki/Schwannoma | 2021-01-18T19:04:09 | {"gard": ["4767"], "mesh": ["D009442"], "umls": ["C0027809"], "icd-9": ["225.8"], "icd-10": ["D36.1"], "wikidata": ["Q369148"]} |
A number sign (#) is used with this entry because osteogenesis type III (OI3) is caused by heterozygous mutation in one of the genes for type I collagen, COL1A1 (120150) or COL1A2 (120160).
Clinical Features
In Victoria, Australia, Sillence et al. (1979) found type III OI to be about one-eighth as frequent as d... | OSTEOGENESIS IMPERFECTA, TYPE III | c0268362 | 2,614 | omim | https://www.omim.org/entry/259420 | 2019-09-22T16:23:53 | {"doid": ["0110339"], "mesh": ["C536044"], "omim": ["259420"], "orphanet": ["216812", "666"], "synonyms": ["Alternative titles", "OI, TYPE III", "OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE"], "genereviews": ["NBK1295"]} |
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive mic... | Pontocerebellar hypoplasia type 2 | c2932714 | 2,615 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2524 | 2021-01-23T17:20:03 | {"gard": ["10705"], "mesh": ["C548070"], "omim": ["277470", "612389", "612390", "613811", "617026"], "umls": ["C2932714"], "icd-10": ["Q04.3"], "synonyms": ["PCH2"]} |
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmit... | Microphthalmia-ankyloblepharon-intellectual disability syndrome | c1844948 | 2,616 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85275 | 2021-01-23T17:56:49 | {"gard": ["5066"], "mesh": ["C564457"], "omim": ["301590"], "umls": ["C1844948"], "icd-10": ["Q11.2"], "synonyms": ["MCOPS4", "Syndromic microphthalmia type 4"]} |
A number sign (#) is used with this entry because of evidence that selective tooth agenesis-3 (STHAG3) is caused by heterozygous mutation in the PAX9 gene (167416) on chromosome 14q13.
For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600).
Cl... | TOOTH AGENESIS, SELECTIVE, 3 | c1970291 | 2,617 | omim | https://www.omim.org/entry/604625 | 2019-09-22T16:11:51 | {"doid": ["0050591"], "mesh": ["C567036"], "omim": ["604625"], "orphanet": ["99798"], "synonyms": ["Alternative titles", "HYPODONTIA/OLIGODONTIA 3", "Selective tooth agenesis"]} |
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineraloc... | Hypertension due to gain-of-function mutations in the mineralocorticoid receptor | c1854631 | 2,618 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88660 | 2021-01-23T19:06:02 | {"mesh": ["C565359"], "umls": ["C1854631"], "icd-10": ["I15.1"], "synonyms": ["Early-onset hypertension with exacerbation in pregnancy", "Pseudohyperaldosteronism type 2"]} |
Chronic active Epstein-Barr virus infection (CAEBV) is a very rare complication of an Epstein Barr virus (EBV) infection. Symptoms of CAEBV may include fever, swollen lymph nodes, and an enlarged liver and/or spleen. More serious complications may include anemia, nerve damage, liver failure, and/or interstitial pneum... | Chronic active Epstein-Barr virus infection | c4016741 | 2,619 | gard | https://rarediseases.info.nih.gov/diseases/9534/chronic-active-epstein-barr-virus-infection | 2021-01-18T18:01:18 | {"omim": ["226990"], "synonyms": ["CEBV", "CAEBV infection", "Chronic active Epstein-Barr disease"]} |
A number sign (#) is used with this entry because Seckel syndrome-1 (SCKL1) is caused by homozygous or compound heterozygous mutation in the ATR gene (601215) on chromosome 3q23.
Description
Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcepha... | SECKEL SYNDROME 1 | c0265202 | 2,620 | omim | https://www.omim.org/entry/210600 | 2019-09-22T16:30:31 | {"doid": ["0070007"], "omim": ["210600"], "orphanet": ["808"], "synonyms": ["Alternative titles", "SCKL", "SECKEL-TYPE DWARFISM", "NANOCEPHALIC DWARFISM", "MICROCEPHALIC PRIMORDIAL DWARFISM I", "BIRD-HEADED DWARFISM"]} |
A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.
## Epidemiology
The... | Beta-ketothiolase deficiency | c1536500 | 2,621 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=134 | 2021-01-23T19:09:29 | {"gard": ["872"], "mesh": ["C535434"], "omim": ["203750"], "umls": ["C1536500"], "icd-10": ["E71.1"], "synonyms": ["3-ketothiolase deficiency", "3-oxothiolase deficiency", "Alpha methylacetoacetic aciduria", "Alpha-methyl-acetoacetyl-CoA thiolase deficiency", "Mitochondrial acetoacetyl-coenzyme A thiolase deficiency", ... |
Low back pain
Other namesLower back pain, lumbago
Low back pain is a common and costly complaint.
Pronunciation
* Lumbago /lʌmˈbeɪɡoʊ/
SpecialtyOrthopedics, rheumatology, rehabilitation medicine
Usual onset20 to 40 years of age[1]
Duration~65% get better in 6 weeks[2]
TypesAcute (less than 6 wee... | Low back pain | c0024031 | 2,622 | wikipedia | https://en.wikipedia.org/wiki/Low_back_pain | 2021-01-18T19:00:32 | {"mesh": ["D017116"], "umls": ["C0024031"], "icd-9": ["724.2"], "icd-10": ["M54.5"], "wikidata": ["Q852163"]} |
## Description
Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (... | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5 | c1970010 | 2,623 | omim | https://www.omim.org/entry/611242 | 2019-09-22T16:03:35 | {"omim": ["611242"]} |
A number sign (#) is used with this entry because of evidence that osteogenesis imperfecta type XVIII (OI18) is caused by homozygous mutation in the FAM46A gene (611357) on chromosome 6q14.
Description
Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, ... | OSTEOGENESIS IMPERFECTA, TYPE XVIII | c4693736 | 2,624 | omim | https://www.omim.org/entry/617952 | 2019-09-22T15:44:26 | {"omim": ["617952"]} |
A number sign (#) is used with this entry because of a clear genetic heterogeneity and demonstration of specific genetic causes in a number of instances. These include mutations of keratin 8 (KRT8; 148060) and keratin 18 (KRT18; 148070), which cause cryptogenic cirrhosis as well as susceptibility to noncryptogenic ci... | CIRRHOSIS, FAMILIAL | c0268074 | 2,625 | omim | https://www.omim.org/entry/215600 | 2019-09-22T16:29:33 | {"mesh": ["C562580"], "omim": ["215600"], "icd-10": ["K74.69"], "orphanet": ["209919"], "synonyms": ["Non-Wilsonian hepatic copper toxicosis of infancy and childhood"]} |
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.
## Epidemiology
Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have be... | Spinocerebellar ataxia type 18 | c1843884 | 2,626 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98771 | 2021-01-23T17:32:01 | {"gard": ["9976"], "mesh": ["C537197"], "omim": ["607458"], "umls": ["C1843884"], "icd-10": ["G11.8"], "synonyms": ["SCA18"]} |
Hyperprolinemia is when there is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2. People with hyperproline... | Hyperprolinemia | c0268529 | 2,627 | gard | https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia | 2021-01-18T17:59:54 | {"omim": ["239500"], "orphanet": ["419"], "synonyms": ["Proline oxidase deficiency", "Proline hydrogenase deficiency", "Hyperprolinemia type 1"]} |
Smith-Magenis syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with SMS have a... | Smith-Magenis syndrome | c0795864 | 2,628 | gard | https://rarediseases.info.nih.gov/diseases/8197/smith-magenis-syndrome | 2021-01-18T17:57:01 | {"mesh": ["D058496"], "omim": ["182290"], "umls": ["C0795864"], "orphanet": ["819"], "synonyms": ["SMS", "Chromosome 17p11.2 deletion syndrome"]} |
Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic tes... | Multiple mitochondrial dysfunctions syndrome | c3502075 | 2,629 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289573 | 2021-01-23T17:01:55 | {"gard": ["12632"], "mesh": ["C565304"]} |
The morning glory disc anomaly (MGDA) is a congenital deformity resulting from failure of the optic nerve to completely form in utero.[1] The term was coined in 1970 by Kindler, noting a resemblance of the malformed optic nerve to the morning glory flower.[2] The condition is usually unilateral.[3]
## Contents
* ... | Morning glory disc anomaly | c0393782 | 2,630 | wikipedia | https://en.wikipedia.org/wiki/Morning_glory_disc_anomaly | 2021-01-18T18:33:10 | {"gard": ["13354", "8502"], "mesh": ["C535970"], "umls": ["C0393782"], "icd-10": ["Q14.2"], "orphanet": ["35737"], "wikidata": ["Q18070807"]} |
Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb ap... | Polydactyly of a triphalangeal thumb | c1868114 | 2,631 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93336 | 2021-01-23T17:04:48 | {"gard": ["5289"], "mesh": ["C536311"], "omim": ["174500"], "umls": ["C1868114"], "icd-10": ["Q69.1"], "synonyms": ["PPD2", "Preaxial polydactyly type 2"]} |
Experience of intense sexual arousal to atypical objects, situations, or individuals
Paraphilia
SpecialtyPsychiatry
CausesSexual attraction
Paraphilia (previously known as sexual perversion and sexual deviation[1]) is the experience of intense sexual arousal to atypical objects, situations, fantasies, behav... | Paraphilia | c1527307 | 2,632 | wikipedia | https://en.wikipedia.org/wiki/Paraphilia | 2021-01-18T19:06:48 | {"mesh": ["D010262"], "icd-9": ["302.0"], "icd-10": ["F65"], "wikidata": ["Q178059"]} |
Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalon... | Homocystinuria without methylmalonic aciduria | c1856057 | 2,633 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=622 | 2021-01-23T17:55:54 | {"mesh": ["C565510"], "omim": ["236270", "250940", "277410"], "icd-10": ["E72.1"], "synonyms": ["Functional methionine synthase deficiency", "Methylcobalamin deficiency"]} |
A number sign (#) is used with this entry because of the demonstration that Dejerine-Sottas syndrome (DSS) can be caused by mutations in the MPZ gene (159440), the PMP22 gene (601097), the PRX gene (605725), and the EGR2 (129010) gene.
There is also evidence that mutations in the GJB1 gene (304040) may contribute to... | HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS | c0011195 | 2,634 | omim | https://www.omim.org/entry/145900 | 2019-09-22T16:39:49 | {"doid": ["0050540"], "mesh": ["D015417"], "omim": ["145900"], "icd-10": ["G60.0"], "orphanet": ["64748"], "synonyms": ["Alternative titles", "DEJERINE-SOTTAS SYNDROME", "CHARCOT-MARIE-TOOTH DISEASE, TYPE 3", "HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III", "DEJERINE-SOTTAS NEUROPATHY"]} |
A number sign (#) is used with this entry because of evidence that cerebellar, ocular, craniofacial, and genital syndrome (COFG) is caused by homozygous mutation in the MAB21L1 gene (601280) on chromosome 13q13.
Description
Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate t... | CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME | None | 2,635 | omim | https://www.omim.org/entry/618479 | 2019-09-22T15:41:42 | {"omim": ["618479"]} |
Human disease: joints that stretch further than normal
Hypermobility
Other nameshyperlaxity, benign joints hypermobility syndrome (BJHS), hypermobility syndrome (HMS)[1]
Hypermobile fingers and thumb
SpecialtyRheumatology
Hypermobility, also known as double-jointedness, describes joints that stretch farth... | Hypermobility (joints) | c0158359 | 2,636 | wikipedia | https://en.wikipedia.org/wiki/Hypermobility_(joints) | 2021-01-18T18:29:59 | {"umls": ["C0086437", "C0152093", "C0158359"], "wikidata": ["Q1641042"]} |
Salivary gland hyperplasia is hyperplasia of the terminal duct of salivary glands.[1]
There are two types:[1]
* Acinar adenomatoid hyperplasia
* Ductal adenomatoid hyperplasia
## References[edit]
1. ^ a b Eveson JW; Speight PM (February 2006). "Non-neoplastic lesions of the salivary glands: New entities... | Salivary gland hyperplasia | c0020569 | 2,637 | wikipedia | https://en.wikipedia.org/wiki/Salivary_gland_hyperplasia | 2021-01-18T18:52:32 | {"icd-10": ["K11.1"], "wikidata": ["Q25339418"]} |
Acquired idiopathic generalized anhidrosis
SpecialtyDermatology
Acquired idiopathic generalized anhidrosis (AIGA) is characterized by generalized absence of sweating without other autonomic and neurologic dysfunction.[1]
AIGA is classified into 3 subgroups: idiopathic pure sudomotor failure (IPSF), sweat ... | Acquired idiopathic generalized anhidrosis | c0393920 | 2,638 | wikipedia | https://en.wikipedia.org/wiki/Acquired_idiopathic_generalized_anhidrosis | 2021-01-18T19:10:57 | {"umls": ["C0393920"], "wikidata": ["Q16975956"]} |
Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males.
Individuals with Wiskott-Aldrich sy... | Wiskott-Aldrich syndrome | c0043194 | 2,639 | medlineplus | https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome/ | 2021-01-27T08:24:32 | {"gard": ["7895"], "mesh": ["D014923"], "omim": ["301000"], "synonyms": []} |
## Summary
### Clinical characteristics.
Infants with Duarte variant galactosemia who receive breast milk or a high galactose-containing formula (dairy milk-based formula) are typically asymptomatic and show the same prevalence of acute issues seen in the general newborn population. For decades it has been unclear ... | Duarte Variant Galactosemia | None | 2,640 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK258640/ | 2021-01-18T21:29:57 | {"synonyms": ["Duarte Galactosemia"]} |
A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to... | Leukodystrophy | c0023520 | 2,641 | gard | https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy | 2021-01-18T17:59:26 | {"umls": ["C0023520"], "orphanet": ["68356"], "synonyms": []} |
A number sign (#) is used with this entry because Kabuki syndrome-1 (KABUK1) is caused by heterozygous mutation in the MLL2 gene (KMT2D; 602113) on chromosome 12q13.
Description
Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies char... | KABUKI SYNDROME 1 | c0796004 | 2,642 | omim | https://www.omim.org/entry/147920 | 2019-09-22T16:39:21 | {"doid": ["0060473"], "mesh": ["C537705"], "omim": ["147920"], "orphanet": ["2322"], "synonyms": ["Alternative titles", "KABUKI SYNDROME", "KABUKI MAKE-UP SYNDROME", "NIIKAWA-KUROKI SYNDROME"], "genereviews": ["NBK62111"]} |
Lettuce big-vein disease
Causal agentslettuce big-vein associated virus (LBVaV)
HostsLettuce
VectorsOlpidium brassicae
TreatmentSee text
Lettuce big-vein disease causes leaf distortion and ruffling in affected lettuce plants.
This disease was first associated in 1983 with a rod-shaped virus named lettuc... | Lettuce big-vein disease | None | 2,643 | wikipedia | https://en.wikipedia.org/wiki/Lettuce_big-vein_disease | 2021-01-18T18:54:40 | {"wikidata": ["Q6533866"]} |
Apudoma
SpecialtyOncology
In pathology, an apudoma is an endocrine tumour that arises from an APUD cell[1][2] from structures such as the ampulla of Vater.[3] They were historically thought to be derived from neural crest cells,[4] but this has since been shown to be untrue (see neuroendocrine tumor).
Th... | Apudoma | c0003650 | 2,644 | wikipedia | https://en.wikipedia.org/wiki/Apudoma | 2021-01-18T19:05:44 | {"mesh": ["D001079"], "umls": ["C0003650"], "wikidata": ["Q3621073"]} |
A number sign (#) is used with this entry because of evidence that Usher syndrome type IV (USH4) is caused by homozygous mutation in the ARSG gene (610008) on chromosome 17q24.
Description
An atypical form of Usher syndrome, here designated type IV, is an autosomal recessive disorder characterized by late onset... | USHER SYNDROME, TYPE IV | None | 2,645 | omim | https://www.omim.org/entry/618144 | 2019-09-22T15:43:33 | {"omim": ["618144"]} |
Not to be confused with Harlequin type ichthyosis.
Harlequin syndrome
Other namesProgressive isolated segmental anhidrosis
A person exhibiting the asymmetric symptoms of Harlequin syndrome. One half of the forehead is red, and the other half is paler.
Harlequin syndrome is a condition characterized by asymm... | Harlequin syndrome | c2029348 | 2,646 | wikipedia | https://en.wikipedia.org/wiki/Harlequin_syndrome | 2021-01-18T18:42:12 | {"gard": ["8610"], "mesh": ["C535634"], "umls": ["C2029348"], "orphanet": ["199282"], "wikidata": ["Q5658687"]} |
Kantaputra et al. (2003) described a 12-year-old Thai girl with what they proposed represents a 'new' syndrome of proximal and distal symphalangism, postaxial polydactyly, hypodontia, and multiple and hyperplastic frenula. Blepharoptosis and dysplastic ears were also described. The fingernails were not dysplastic... | THAI SYMPHALANGISM SYNDROME | c1842679 | 2,647 | omim | https://www.omim.org/entry/608028 | 2019-09-22T16:08:27 | {"mesh": ["C564303"], "omim": ["608028"]} |
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: "Olecranon fracture" – news · newspapers · books · scholar · JSTOR (December 2014) (Learn how and when to remove this te... | Olecranon fracture | c0555335 | 2,648 | wikipedia | https://en.wikipedia.org/wiki/Olecranon_fracture | 2021-01-18T18:30:37 | {"wikidata": ["Q2019348"]} |
Porcine stress syndrome, also known as malignant hyperthermia or PSS, is a condition in pigs. It is characterised by hyperthermia triggered by stress, anaesthesia with halothane or intense exercise. PSS may appear as sudden death in pigs, often after transport. It is an inherited, autosomal recessive disorder due... | Porcine stress syndrome | c0270589 | 2,649 | wikipedia | https://en.wikipedia.org/wiki/Porcine_stress_syndrome | 2021-01-18T18:48:21 | {"wikidata": ["Q7230002"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-50 (MRD50) is caused by heterozygous mutation in the NAA15 gene (608000) on chromosome 4q31.
Clinical Features
Stessman et al. (2017) reported 13 unrelated patients with a variety of cognitive neurodevelopme... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | c4540470 | 2,650 | omim | https://www.omim.org/entry/617787 | 2019-09-22T15:44:45 | {"omim": ["617787"]} |
A number sign (#) is used with this entry because of evidence that Stankiewicz-Isidor syndrome (STISS) is caused by heterozygous mutation in the PSMD12 gene (604450) on chromosome 17q24.
Description
Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development... | STANKIEWICZ-ISIDOR SYNDROME | c4479599 | 2,651 | omim | https://www.omim.org/entry/617516 | 2019-09-22T15:45:39 | {"omim": ["617516"]} |
A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.
## Epidemiology
The disorder is estimated to occur in 0,32/100 000 individuals before the age of ... | Juvenile glaucoma | c2981140 | 2,652 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98977 | 2021-01-23T18:22:44 | {"omim": ["137750", "231300", "608695", "608696", "610535", "611274"], "umls": ["C2981140"]} |
A number sign (#) is used with this entry because susceptibility to hypertriglyceridemia has been associated with mutation in the apolipoprotein A5 gene (APOA5; 606368).
Description
Most individuals with familial hypertriglyceridemia have a hyperlipoproteinemia IV (144600) phenotype. Relatives of affected persons (... | HYPERTRIGLYCERIDEMIA, FAMILIAL | c0020480 | 2,653 | omim | https://www.omim.org/entry/145750 | 2019-09-22T16:39:46 | {"doid": ["1172"], "mesh": ["D006953"], "omim": ["145750"], "icd-9": ["272.1"], "icd-10": ["E78.1"]} |
A number sign (#) is used with this entry because dentatorubral-pallidoluysian atrophy (DRPLA) is caused by a heterozygous expanded trinucleotide repeat in the ATN1 gene (607462) on chromosome 12p13.
Clinical Features
In 5 families, Naito and Oyanagi (1982) reported a syndrome of myoclonic epilepsy, dementia, ataxi... | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | c0751781 | 2,654 | omim | https://www.omim.org/entry/125370 | 2019-09-22T16:42:32 | {"doid": ["0060162"], "mesh": ["D020191"], "omim": ["125370"], "orphanet": ["101"], "synonyms": ["Alternative titles", "MYOCLONIC EPILEPSY WITH CHOREOATHETOSIS", "NAITO-OYANAGI DISEASE", "HAW RIVER SYNDROME", "ATAXIA, CHOREA, SEIZURES, AND DEMENTIA"], "genereviews": ["NBK1491"]} |
## Summary
### Clinical characteristics.
Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentrat... | Hyperkalemic Periodic Paralysis | c0238357 | 2,655 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1496/ | 2021-01-18T21:19:17 | {"mesh": ["D020513"], "synonyms": ["HyperPP"]} |
Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.
*[... | Transient tyrosinemia of the newborn | None | 2,656 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3402 | 2021-01-23T17:25:00 | {"gard": ["5388"], "icd-10": ["P74.5"], "synonyms": ["Transient tyrosinemia of the neonate"]} |
Neurogenic Claudication
Other namesPseudoclaudication
CT scan of spinal stenosis and thickened ligamentum flavum, causing neurogenic claudication
SpecialtyOrthopedics, Neurology, Neurosurgery
SymptomsPain, tingling, tiredness, weakness, numbness or heaviness in the legs, hips, glutes and lower back.
Complic... | Neurogenic claudication | c0580173 | 2,657 | wikipedia | https://en.wikipedia.org/wiki/Neurogenic_claudication | 2021-01-18T18:51:35 | {"umls": ["C0580173"], "wikidata": ["Q1097931"]} |
A number sign (#) is used with this entry because of evidence that osteoporosis and susceptibility to fracture can be caused by homozygous or heterozygous mutation in the MIR2861 gene (613405) on chromosome 9q34.
For a discussion of genetic heterogeneity of bone mineral density, see BMND1 (601884).
Clinical Feature... | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 | c3150680 | 2,658 | omim | https://www.omim.org/entry/613418 | 2019-09-22T15:58:45 | {"omim": ["613418"], "synonyms": ["Alternative titles", "OSTEOPOROSIS, SUSCEPTIBILITY TO", "METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO", "COMPRESSION FRACTURE, SUSCEPTIBILITY TO"]} |
Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in siz... | Progressive nodular histiocytosis | c4707331 | 2,659 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158022 | 2021-01-23T16:55:35 | {"icd-10": ["D76.3"]} |
X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as di... | X-linked Charcot-Marie-Tooth disease type 6 | c3806702 | 2,660 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352675 | 2021-01-23T17:26:10 | {"gard": ["12445"], "omim": ["300905"], "icd-10": ["G60.0"], "synonyms": ["CMT6X", "CMTX6"]} |
Aspirin exacerbated respiratory disease
Other namesAspirin-induced asthma, Samter's triad, Samter's syndrome, nonsteroidal anti-inflammatory drugs-exacerbated respiratory disease (N-ERD)[1]
Aspirin in coated tablets
SpecialtyPulmonology
Aspirin exacerbated respiratory disease (AERD), also termed aspirin-in... | Aspirin exacerbated respiratory disease | c1859648 | 2,661 | wikipedia | https://en.wikipedia.org/wiki/Aspirin_exacerbated_respiratory_disease | 2021-01-18T18:42:34 | {"mesh": ["C565935", "D055963"], "umls": ["C1859648"], "icd-9": ["493.1"], "icd-10": ["J45.1", "J45.8"], "wikidata": ["Q2039267"]} |
A number sign (#) is used with this entry because of evidence that bone marrow failure syndrome-5 (BMFS5) is caused by heterozygous mutation in the TP53 gene (191170) on chromosome 17p13.
Description
Bone marrow failure syndrome-5 (BMFS5) is a hematologic disorder characterized by infantile onset of severe red ... | BONE MARROW FAILURE SYNDROME 5 | None | 2,662 | omim | https://www.omim.org/entry/618165 | 2019-09-22T15:43:18 | {"omim": ["618165"]} |
## Summary
### Clinical characteristics.
Untreated complete plasminogen activator inhibitor 1 (PAI-1) deficiency is characterized by mild-to-moderate bleeding, although in some instances bleeding can be life threatening. Most commonly, delayed bleeding is associated with injury, trauma, or surgery; spontaneous blee... | Complete Plasminogen Activator Inhibitor 1 Deficiency | None | 2,663 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK447152/ | 2021-01-18T21:33:46 | {"synonyms": ["Complete PAI-1 Deficiency", "Homozygous PAI-1 Deficiency"]} |
Effect of long-term ergot poisoning
Ergotism
Other namesSaint Anthony's Fire, ergotoxicosis
Advanced ergotism with gangrene
SpecialtyEmergency medicine
Symptoms
* Convulsive ergotism: spasms, diarrhea, paresthesias, mania, psychosis, headaches, nausea, vomiting
* Gangrenous ergotism: desquamation, weak ... | Ergotism | c0014714 | 2,664 | wikipedia | https://en.wikipedia.org/wiki/Ergotism | 2021-01-18T18:49:49 | {"mesh": ["D004881"], "icd-9": ["988.2"], "icd-10": ["T62.2"], "wikidata": ["Q955948"]} |
Familial progressive hyperpigmentation
Other namesMelanosis universalis hereditaria[1]
This condition in inherited in an autosomal dominant manner
Familial progressive hyperpigmentation is characterized by patches of hyperpigmentation, present at birth, which increase in size and number with age. This is... | Familial progressive hyperpigmentation | c2681535 | 2,665 | wikipedia | https://en.wikipedia.org/wiki/Familial_progressive_hyperpigmentation | 2021-01-18T19:01:43 | {"umls": ["C2681535", "C1835039", "C1840392"], "icd-10": ["L81.4"], "orphanet": ["79146"], "wikidata": ["Q5432946"]} |
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young type 6 (MODY6) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q31.
For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.
Molecular... | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 | c0342276 | 2,666 | omim | https://www.omim.org/entry/606394 | 2019-09-22T16:10:32 | {"doid": ["0111104"], "mesh": ["C562772"], "omim": ["606394"], "orphanet": ["552"], "synonyms": ["Alternative titles", "MODY, TYPE 6"], "genereviews": ["NBK500456"]} |
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and ... | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | c4225260 | 2,667 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=431166 | 2021-01-23T16:57:40 | {"omim": ["616636", "616669"], "icd-10": ["D84.8"], "synonyms": ["Primary immunodeficiency with post-MMR vaccine viral infection"]} |
A number sign (#) is used with this entry because this form of congenital muscular dystrophy-dystroglycanopathy with mental retardation (type B14; MDDGB14) is caused by homozygous or compound heterozygous mutation in the gene encoding the beta subunit of GDP-mannose pyrophosphorylase (GMPPB; 615320) on chromosome 3p2... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | c3809221 | 2,668 | omim | https://www.omim.org/entry/615351 | 2019-09-22T15:52:28 | {"doid": ["0050588"], "omim": ["615351"], "orphanet": ["370959", "370968"], "synonyms": ["CMD with cerebellar involvement", "CMD-CRB", "Alternative titles", "MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED", "CMD with intellectual disability", "CMD-MR"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to age-related macular degeneration-5 (ARMD5) is conferred by heterozygous mutation in the ERCC6 gene (609413) on chromosome 10q11.
For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degenerat... | MACULAR DEGENERATION, AGE-RELATED, 5 | c3151063 | 2,669 | omim | https://www.omim.org/entry/613761 | 2019-09-22T15:57:35 | {"omim": ["613761"]} |
Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.
## Epidemiology
The prevalence of Legius syndrome is not known. Fewer than 200 cases have been reported to date. Prevalence m... | Legius syndrome | c1969623 | 2,670 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137605 | 2021-01-23T18:08:57 | {"gard": ["10714"], "mesh": ["C548032"], "omim": ["611431"], "umls": ["C1969623"], "icd-10": ["Q85.0"], "synonyms": ["NF1-like syndrome", "Neurofibromatosis 1-like syndrome"]} |
Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased di... | Spinocerebellar ataxia type 42 | c4225205 | 2,671 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=458803 | 2021-01-23T17:28:52 | {"omim": ["616795"], "icd-10": ["G11.8"], "synonyms": ["SCA42"]} |
Human parainfluenza viruses
Transmission electron micrograph of a parainfluenza virus. Two intact particles and free filamentous nucleocapsid
Scientific classification
(unranked): Virus
Realm: Riboviria
Kingdom: Orthornavirae
Phylum: Negarnaviricota
Class: Monjiviricetes
Order: Mononegavirales ... | Human parainfluenza viruses | c0030389 | 2,672 | wikipedia | https://en.wikipedia.org/wiki/Human_parainfluenza_viruses | 2021-01-18T19:02:22 | {"mesh": ["D018184"], "umls": ["C0030389", "C0302507"], "icd-9": ["480.2"], "icd-10": ["B34.8", "J20.4", "J12.2"], "wikidata": ["Q2051533"]} |
Leslie and Pyke (1978) observed CPAF in a mother and her 2 daughters with diabetes mellitus. They were prompted thereby to study the response to chlorpropamide and alcohol (in the form of sherry) in noninsulin-dependent diabetics (sometimes known as maturity-onset or type 2), in insulin-dependent diabetics (somet... | CHLORPROPAMIDE-ALCOHOL FLUSHING | c1861630 | 2,673 | omim | https://www.omim.org/entry/118430 | 2019-09-22T16:43:22 | {"mesh": ["C566132"], "omim": ["118430"]} |
Lowry (1972) described brothers with this combination. The parents were related. Lowry (1993) provided a follow-up of one of the brothers at the age of 25 years. He was of average intelligence and had completed 2 years of college. He showed markedly hypoplastic calves.
INHERITANCE \- Autosomal recessive HEAD & NE... | CRANIOSYNOSTOSIS WITH FIBULAR APLASIA | c1857492 | 2,674 | omim | https://www.omim.org/entry/218550 | 2019-09-22T16:29:14 | {"mesh": ["C565665"], "omim": ["218550"], "orphanet": ["1533"]} |
A number sign (#) is used with this entry because this form of Zellweger syndrome (PBD5A) is caused by homozygous mutation in the PEX2 gene (170993) on chromosome 8q21.
Description
The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affec... | PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | c0043459 | 2,675 | omim | https://www.omim.org/entry/614866 | 2019-09-22T15:53:57 | {"doid": ["0080480"], "mesh": ["D015211"], "omim": ["614866"], "orphanet": ["912"]} |
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.
*[v]: View this t... | Grant syndrome | c1841835 | 2,676 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2097 | 2021-01-23T18:00:34 | {"gard": ["2559"], "mesh": ["C537293"], "omim": ["138930"], "umls": ["C1841835"], "icd-10": ["Q87.5"]} |
Sickle cell retinopathy
SpecialtyOphthalmology
ComplicationsBlindness
CausesSickle cell disease
Risk factorsHeredity
Diagnostic methodEye examination
TreatmentMedical, laser and surgery
Sickle cell retinopathy is a major ocular complication of the sickle cell disease (SCD) which causes permanent loss... | Sickle cell retinopathy | c0339491 | 2,677 | wikipedia | https://en.wikipedia.org/wiki/Sickle_cell_retinopathy | 2021-01-18T18:43:30 | {"umls": ["C0339491"], "wikidata": ["Q97403851"]} |
Extrapyramidal symptoms
Other namesExtrapyramidal side effects (EPSE)
SpecialtyNeurology
Extrapyramidal symptoms (EPS), also known as extrapyramidal side effects (EPSE) is drug-induced movement disorders, which include acute and long-term symptoms. These symptoms include dystonia (continuous spasms and m... | Extrapyramidal symptoms | c0234133 | 2,678 | wikipedia | https://en.wikipedia.org/wiki/Extrapyramidal_symptoms | 2021-01-18T19:02:29 | {"umls": ["C0234133"], "wikidata": ["Q1385411"]} |
Borna disease viruses 1 and 2
SpecialtyVeterinary medicine
Borna disease, also known as sad horse disease,[1] is an infectious neurological syndrome[2] of warm-blooded animals, caused by Borna disease viruses 1 and 2 (BoDV-1/2), both of which are members of the species Mammalian 1 orthobornavirus. BoDV-1 a... | Borna disease | c0006023 | 2,679 | wikipedia | https://en.wikipedia.org/wiki/Borna_disease | 2021-01-18T18:41:29 | {"mesh": ["D001890"], "umls": ["C0006023"], "icd-9": ["062.9"], "wikidata": ["Q9430213"]} |
A number sign (#) is used with this entry because of evidence that Alazami syndrome (ALAZS) is caused by homozygous or compound heterozygous mutation in the LARP7 gene (612026), a chaperone of 7SK noncoding RNA (616505), on chromosome 4q25.
Description
Alazami syndrome is an autosomal recessive disorder charact... | ALAZAMI SYNDROME | c3554439 | 2,680 | omim | https://www.omim.org/entry/615071 | 2019-09-22T15:53:16 | {"omim": ["615071"], "orphanet": ["319671"], "synonyms": ["Alazami syndrome", "Alternative titles", "FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM"]} |
Squamous-cell thyroid carcinoma
Other namesSCTC
Micrograph of squamous-cell carcinoma (H&E stain)
SpecialtyOncology
Squamous-cell thyroid carcinoma is rare malignant neoplasm of thyroid gland which shows tumor cells with distinct squamous differentiation. The incidence of SCTC is less than 1% out of thyroi... | Squamous-cell thyroid carcinoma | c1710177 | 2,681 | wikipedia | https://en.wikipedia.org/wiki/Squamous-cell_thyroid_carcinoma | 2021-01-18T18:34:12 | {"umls": ["C1710177"], "icd-9": ["193"], "icd-10": ["C73"], "wikidata": ["Q5073466"]} |
Edmonds and Keeler (1940) described pits in the earlobes at the exact point where women (and men) puncture their ears for earrings. Irregular dominant inheritance was suggested. Ramirez and Cantu (1982) observed the trait in 9 persons in 3 generations with failure of expression in 1 female and many instances of m... | EARRING HOLES, NATURAL | c1851895 | 2,682 | omim | https://www.omim.org/entry/129000 | 2019-09-22T16:41:56 | {"omim": ["129000"], "synonyms": ["Alternative titles", "EARLOBE SINUSES"]} |
A number sign (#) is used with this entry because of evidence that ventricular septal defect-2 (VSD2) can be caused by heterozygous mutation in the CITED2 gene (602937) on chromosome 6q24.
Description
Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 5... | VENTRICULAR SEPTAL DEFECT 2 | c3280783 | 2,683 | omim | https://www.omim.org/entry/614431 | 2019-09-22T15:55:21 | {"omim": ["614431"]} |
Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyano... | Encircling double aortic arch | c4706940 | 2,684 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99075 | 2021-01-23T18:50:46 | {"icd-10": ["Q25.4"]} |
The features are formation of bullae without evident trauma, absence of all hair, hyperpigmentation, depigmentation, acrocyanosis, dwarfism, microcephaly, mental inferiority, short tapering fingers, and sometimes anomalies of the nails. The disorder is lethal to affected males early in life; most patients die before ... | BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE | c0795974 | 2,685 | omim | https://www.omim.org/entry/302000 | 2019-09-22T16:18:44 | {"mesh": ["C563065"], "omim": ["302000"], "orphanet": ["1867"], "synonyms": ["Alternative titles", "EPIDERMOLYSIS BULLOSA, MACULAR TYPE"]} |
Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition ... | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | c0265216 | 2,686 | gard | https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-due-to-congenital-stenosis-of-aqueduct-of-sylvius | 2021-01-18T17:59:57 | {"mesh": ["C536078"], "omim": ["307000"], "umls": ["C0265216"], "orphanet": ["2182"], "synonyms": ["Hydrocephalus, X-linked", "HSAS1", "Aqueductal stenosis, X-linked", "HSAS", "HYCX", "XLAS"]} |
Ischemic colitis
Ischemic colitis on the transverse colon of an 82 year old female
SpecialtyGastroenterology
Ischemic colitis (also spelled ischaemic colitis) is a medical condition in which inflammation and injury of the large intestine result from inadequate blood supply. Although uncommon in the general p... | Ischemic colitis | c0162529 | 2,687 | wikipedia | https://en.wikipedia.org/wiki/Ischemic_colitis | 2021-01-18T18:47:48 | {"mesh": ["D017091"], "umls": ["C0162529"], "wikidata": ["Q1532338"]} |
Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the liter... | Thoracic dysplasia-hydrocephalus syndrome | c1848864 | 2,688 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1861 | 2021-01-23T17:38:06 | {"gard": ["5180"], "mesh": ["C564774"], "omim": ["273730"], "umls": ["C1848864"], "icd-10": ["Q87.8"]} |
Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.
## Epidemiology
The incidence in the general population is 1/1,000,000-1/250,000 (but higher in autopsy stud... | Insulinoma | c0021670 | 2,689 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97279 | 2021-01-23T17:42:01 | {"gard": ["3010"], "mesh": ["D007340"], "umls": ["C0021670"], "icd-10": ["E16.8"]} |
Patient-controlled analgesia
A patient-controlled analgesia infusion pump, configured for epidural administration of fentanyl and bupivacaine for postoperative analgesia
MeSHD016058
[edit on Wikidata]
Patient-controlled analgesia (PCA[1]) is any method of allowing a person in pain to administer th... | Patient-controlled analgesia | None | 2,690 | wikipedia | https://en.wikipedia.org/wiki/Patient-controlled_analgesia | 2021-01-18T18:31:32 | {"wikidata": ["Q1382057"]} |
Chronic Hallucinatory Psychosis
SpecialtyPsychiatry
Chronic hallucinatory psychosis is a psychosis subtype, classified under "Other nonorganic psychosis" by the ICD-10 Chapter V: Mental and behavioural disorders. Other abnormal mental symptoms in the early stages are, as a rule, absent. The patient is most usu... | Chronic hallucinatory psychosis | c2874859 | 2,691 | wikipedia | https://en.wikipedia.org/wiki/Chronic_hallucinatory_psychosis | 2021-01-18T19:09:58 | {"umls": ["C2874859"], "icd-10": ["F28"], "wikidata": ["Q3410138"]} |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generali... | Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome | c1836007 | 2,692 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=496693 | 2021-01-23T18:41:42 | {"mesh": ["C563701"], "omim": ["609545"], "synonyms": ["Gershoni-Baruch syndrome"]} |
A number sign (#) is used with this entry because of evidence that gastrointestinal defects and immunodeficiency syndrome (GIDID) is caused by homozygous or compound heterozygous mutation in the TTC7A gene (609332) on chromosome 2p21.
Description
Gastrointestinal defects and immunodeficiency syndrome (GIDID) is cha... | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME | c0220744 | 2,693 | omim | https://www.omim.org/entry/243150 | 2019-09-22T16:26:19 | {"doid": ["14671"], "mesh": ["C562441"], "omim": ["243150"], "orphanet": ["436252", "2300"], "synonyms": ["FAMILIAL INTESTINAL POLYATRESIA SYNDROME", "INTESTINAL ATRESIA, MULTIPLE", "INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY", "Alternative titles", "CID-MIA/early-on... |
Hereditary sensory and autonomic neuropathy type I
SpecialtyNeurology
Hereditary sensory and autonomic neuropathy type I (HSAN I) or hereditary sensory neuropathy type I (HSN I) is a group of autosomal dominant inherited neurological diseases that affect the peripheral nervous system particularly on the sensor... | Hereditary sensory and autonomic neuropathy type I | c0020071 | 2,694 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_sensory_and_autonomic_neuropathy_type_I | 2021-01-18T19:05:52 | {"mesh": ["D009477"], "orphanet": ["36386"], "wikidata": ["Q3338681"]} |
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: "Brachioradial pruritus" – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove thi... | Brachioradial pruritus | c1304055 | 2,695 | wikipedia | https://en.wikipedia.org/wiki/Brachioradial_pruritus | 2021-01-18T18:47:03 | {"umls": ["C1304055"], "wikidata": ["Q4953340"]} |
Kearns–Sayre syndrome
Other namesOculocraniosomatic disorder or Oculocranionsomatic neuromuscular disorder with ragged red fibers
SpecialtyOphthalmology
Kearns–Sayre syndrome (KSS), Oculocraniosomatic disorder or Oculocranionsomatic neuromuscular disorder with ragged red fibers, is a mitochondrial myopat... | Kearns–Sayre syndrome | c0022541 | 2,696 | wikipedia | https://en.wikipedia.org/wiki/Kearns%E2%80%93Sayre_syndrome | 2021-01-18T18:37:24 | {"gard": ["6817"], "mesh": ["D007625"], "umls": ["C0022541"], "icd-9": ["277.87"], "orphanet": ["480"], "wikidata": ["Q2605012"]} |
Anal dysplasia is a pre-cancerous condition which occurs when the lining of the anal canal undergoes abnormal changes. It can be classified as low grade squamous intraepithelial lesions (LSIL) and high-grade squamous intraepithelial lesions (HSIL).[1] Most cases are not associated with symptoms, but people may no... | Anal dysplasia | c0347129 | 2,697 | wikipedia | https://en.wikipedia.org/wiki/Anal_dysplasia | 2021-01-18T18:59:36 | {"umls": ["C0347129"], "wikidata": ["Q4750997"]} |
## Description
Apolipoprotein A-II, like apolipoprotein A-I (APOA1; 107680), is a major apolipoprotein in high density lipoprotein (HDL).
Cloning and Expression
Sakaguchi et al. (1984) and Lackner et al. (1984) isolated the gene for apolipoprotein A-II from a human cDNA library using synthetic oligonucleotide... | APOLIPOPROTEIN A-II | c3888202 | 2,698 | omim | https://www.omim.org/entry/107670 | 2019-09-22T16:44:49 | {"omim": ["107670"]} |
A number sign (#) is used with this entry because autosomal recessive limb-girdle muscular dystrophy-2 (LGMDR2) is caused by homozygous or compound heterozygous mutation in the DYSF gene (DYSF; 603009), encoding the skeletal muscle protein dysferlin, on chromosome 2p13.
See also Miyoshi myopathy (MDM1; 254130) and d... | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 | c1850889 | 2,699 | omim | https://www.omim.org/entry/253601 | 2019-09-22T16:24:47 | {"doid": ["0110276"], "mesh": ["C535899"], "omim": ["253601"], "orphanet": ["268"], "synonyms": ["Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3"], "genereviews": ["NBK1303"]} |
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