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A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
## Epidemiology
So far, around 20 cases have been reported in the literature. The syndrom... | Hypomyelination with atrophy of basal ganglia and cerebellum | c2676244 | 5,500 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139441 | 2021-01-23T18:38:15 | {"gard": ["10917"], "mesh": ["C567314"], "omim": ["612438", "617899"], "icd-10": ["E75.2"], "synonyms": ["H-ABC"]} |
Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained... | Hepatoblastoma | c0206624 | 5,501 | gard | https://rarediseases.info.nih.gov/diseases/2657/hepatoblastoma | 2021-01-18T18:00:05 | {"mesh": ["D018197"], "omim": ["114550"], "umls": ["C0206624"], "orphanet": ["449"], "synonyms": []} |
There are 2 branched-chain amino acid transferases, BCT1 (113520) and BCT2 (113530). There is evidence, furthermore, that the transamination of valine may be separate from the transamination of leucine and isoleucine (see 277100). The only description of a leucine-isoleucine abnormality was provided by Jeune et al. (... | HYPERLEUCINE-ISOLEUCINEMIA | c0268574 | 5,502 | omim | https://www.omim.org/entry/238340 | 2019-09-22T16:26:52 | {"mesh": ["C562674"], "omim": ["238340"], "icd-10": ["E71.19"]} |
A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less... | Duchenne and Becker muscular dystrophy | c0917713 | 5,503 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=262 | 2021-01-23T17:49:38 | {"mesh": ["D020388"], "umls": ["C0917713", "C3542021"], "icd-10": ["G71.0"], "synonyms": ["Severe dystrophinopathy, Duchenne and Becker type"]} |
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acu... | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | c1847522 | 5,504 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397973 | 2021-01-23T17:37:37 | {"mesh": ["C564660"], "omim": ["606772"], "umls": ["C1847522"], "icd-10": ["Q87.8"], "synonyms": ["MOMES syndrome"]} |
A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
## Epidemiology
Floating-Harbor syndrome prevalence and incidence are unknown. Around 100 cases have been reported in the liter... | Floating-Harbor syndrome | c0729582 | 5,505 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2044 | 2021-01-23T18:16:35 | {"gard": ["3221", "6455"], "mesh": ["C537062"], "omim": ["136140"], "umls": ["C0729582"], "icd-10": ["Q87.8"]} |
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This article needs attention from an expert in medicine. Please add a reason or a talk parameter to this template to explain the issue with the article. WikiProjec... | Roemheld syndrome | c0877059 | 5,506 | wikipedia | https://en.wikipedia.org/wiki/Roemheld_syndrome | 2021-01-18T19:09:27 | {"umls": ["C0877059"], "wikidata": ["Q1638006"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-68 (DFNB68) is caused by homozygous mutation in the S1PR2 gene (605111) on chromosome 19p13.
Clinical Features
Santos et al. (2006) reported 2 consanguineous Pakistani families with autosomal recessive nonsyndromic conge... | DEAFNESS, AUTOSOMAL RECESSIVE 68 | c1835854 | 5,507 | omim | https://www.omim.org/entry/610419 | 2019-09-22T16:04:37 | {"doid": ["0110519"], "mesh": ["C563669"], "omim": ["610419"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]} |
Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. Some of the main features include intellectual disability, distinctive facial features, delayed development, and Hirschsprung disease. Other features may include microcephaly, structural brain abnormalities, epilepsy, short ... | Mowat-Wilson syndrome | c1856113 | 5,508 | gard | https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome | 2021-01-18T17:58:58 | {"mesh": ["C536990"], "omim": ["235730"], "umls": ["C1856113"], "orphanet": ["2152"], "synonyms": ["Intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease", "Hirschsprung disease intellectual disability syndrome"]} |
Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such... | Alcohol use disorder | c0001973 | 5,509 | medlineplus | https://medlineplus.gov/genetics/condition/alcohol-use-disorder/ | 2021-01-27T08:24:37 | {"mesh": ["D000437"], "omim": ["103780"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that juvenile myelomonocytic leukemia (JMML) can be caused by germline heterozygous mutation in the CBL gene (165360) on chromosome 11q23. One such family has been reported.
Description
Juvenile myelomonocytic leukemia is an aggressive pediatric myelodys... | JUVENILE MYELOMONOCYTIC LEUKEMIA | c0349639 | 5,510 | omim | https://www.omim.org/entry/607785 | 2019-09-22T16:08:44 | {"doid": ["0050458"], "mesh": ["D054429"], "omim": ["607785"], "icd-10": ["C93.30", "C93.3", "C93.1", "C93.10"], "orphanet": ["86834"], "synonyms": ["Alternative titles", "LEUKEMIA, JUVENILE MYELOMONOCYTIC"]} |
Contact stomatitis
Other namesContact lichenoid reaction,[1] lichenoid amalgam reaction,[1] oral mucosal cinnamon reaction[1]
Contact stomatitis is characterized by cutaneous lesions that may be located where the offending agent contacts the mucosa for a prolonged time.[1]
## See also[edit]
* Contact urtic... | Contact stomatitis | c1290773 | 5,511 | wikipedia | https://en.wikipedia.org/wiki/Contact_stomatitis | 2021-01-18T18:30:41 | {"umls": ["C1290773"], "wikidata": ["Q5164851"]} |
An autosomal form of visceral heterotaxy, designated HTX3, has been mapped to chromosome 6q21.
Description
Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the hear... | HETEROTAXY, VISCERAL, 3, AUTOSOMAL | c3178805 | 5,512 | omim | https://www.omim.org/entry/606325 | 2019-09-22T16:10:29 | {"doid": ["0050545"], "mesh": ["D059446"], "omim": ["606325"], "orphanet": ["450"]} |
A number sign (#) is used with this entry because the form of hydrolethalus syndrome belonging to the Finnish disease heritage, hydrolethalus-1 (HLS1), is caused by homozygous mutation in the HYLS1 gene (610693) on chromosome 11q24.
See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 1... | HYDROLETHALUS SYNDROME 1 | c2931104 | 5,513 | omim | https://www.omim.org/entry/236680 | 2019-09-22T16:27:01 | {"doid": ["0111355"], "mesh": ["C536079"], "omim": ["236680"], "orphanet": ["2189"]} |
In the families reported by Van Bogaert and Moreau (1939-41), Charcot-Marie-Tooth disease and Friedreich ataxia occurred in the same individuals in a pattern of sex-linked recessive inheritance. Possibly this is a mutation distinct from that responsible for the 2 disorders separately. If the genes for peroneal muscul... | CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED | c1844863 | 5,514 | omim | https://www.omim.org/entry/302900 | 2019-09-22T16:18:34 | {"mesh": ["C564446"], "omim": ["302900"]} |
A number sign (#) is used with this entry because serum uric acid concentration and susceptibility to gout-4 can be conferred by variation in the SLC17A3 gene (611034) on chromosome 6p21.
For a phenotypic description of gout and a discussion of genetic heterogeneity of serum uric acid concentration quantitative trai... | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4 | c2675207 | 5,515 | omim | https://www.omim.org/entry/612671 | 2019-09-22T16:00:56 | {"omim": ["612671"], "synonyms": ["Alternative titles", "GOUT SUSCEPTIBILITY 4"]} |
A very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.
## Epidemiology
The prevalence is unknown as... | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | c0342471 | 5,516 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90791 | 2021-01-23T19:01:02 | {"gard": ["9152"], "mesh": ["C579862"], "omim": ["201810"], "icd-10": ["E25.0"], "synonyms": ["CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency"]} |
A number sign (#) is used with this entry because of evidence that Meester-Loeys syndrome (MRLS) is caused by mutation in the BGN gene (301870) on chromosome Xq28.
Clinical Features
Meester et al. (2017) studied 5 families in which affected males had early-onset aortic aneurysm and dissection, with the earliest occ... | MEESTER-LOEYS SYNDROME | c4310811 | 5,517 | omim | https://www.omim.org/entry/300989 | 2019-09-22T16:19:01 | {"omim": ["300989"], "genereviews": ["NBK1120"]} |
Hyperparathyroidism
Thyroid and parathyroid
SpecialtyEndocrinology
SymptomsNone, kidney stones, weakness, depression, bone pains, confusion, increased urination[1][2][3]
ComplicationsOsteoporosis[2][3]
Usual onset50 to 60[2]
TypesPrimary, secondary
CausesPrimary: parathyroid adenoma, multiple benign tum... | Hyperparathyroidism | c0020502 | 5,518 | wikipedia | https://en.wikipedia.org/wiki/Hyperparathyroidism | 2021-01-18T18:32:24 | {"mesh": ["D006961"], "umls": ["C0020502"], "orphanet": ["99879", "181408"], "wikidata": ["Q1344835"]} |
An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.
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*[AA]: Adr... | X-linked intellectual disability, Shrimpton type | c2678039 | 5,519 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85324 | 2021-01-23T17:06:15 | {"mesh": ["C567474"], "omim": ["300709"], "icd-10": ["Q87.8"], "synonyms": ["MRXS9"]} |
This article is about degeneration of the endometrium in horses. For degeneration of the endometrium in humans, see endometriosis.
Endometrosis is a chronic degenerative syndrome of the lining of the uterus (the endometrium) in mares.[1] The cause is unknown, but the severity of endometrosis increases in parallel wi... | Endometrosis | None | 5,520 | wikipedia | https://en.wikipedia.org/wiki/Endometrosis | 2021-01-18T18:55:59 | {"wikidata": ["Q1340734"]} |
Hypoalphalipoproteinemia
Hypoalphalipoproteinemia has an autosomal dominant pattern of inheritance.
SpecialtyEndocrinology
Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner.[1]
It can be associated with LDL receptor.[2]
Associated regions an... | Hypoalphalipoproteinemia | c0473527 | 5,521 | wikipedia | https://en.wikipedia.org/wiki/Hypoalphalipoproteinemia | 2021-01-18T18:30:54 | {"mesh": ["D052456"], "umls": ["C0473527"], "icd-9": ["272.5"], "icd-10": ["E78.6"], "orphanet": ["31153"], "wikidata": ["Q5959167"]} |
Brown et al. (1963) described a hemorrhagic diathesis apparently due to the presence of an antithrombin as the primary defect. The disorder occurred in a Mohawk Indian kindred. Recessive inheritance is not completely certain. See 107300 for a discussion of antithrombin III deficiency.
Inheritance \- ? Autosom... | ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO | c1859761 | 5,522 | omim | https://www.omim.org/entry/207300 | 2019-09-22T16:30:56 | {"mesh": ["C565947"], "omim": ["207300"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency mitochondrial type 1 (MC1DM1) is caused by mutation in the MTND3 gene (516002).
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Clinical Features
Taylor et al. (2001) r... | MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 | None | 5,523 | omim | https://www.omim.org/entry/500014 | 2019-09-22T16:16:58 | {"omim": ["500014"]} |
A number sign (#) is used with this entry because Northern epilepsy, also known as progressive epilepsy with mental retardation (EPMR), is caused by a Finnish founder mutation in the CLN8 gene (607837.0001).
Northern epilepsy is a form of neuronal ceroid lipofuscinosis (NCL, CLN) and is a variant of CLN8 (600143).
... | CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT | c1864923 | 5,524 | omim | https://www.omim.org/entry/610003 | 2019-09-22T16:05:16 | {"doid": ["0110724"], "mesh": ["C537952"], "omim": ["610003"], "orphanet": ["1947"], "synonyms": ["Alternative titles", "NORTHERN EPILEPSY", "EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION"]} |
Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).
## Epidemiology
Prevalence has been estimated at approximately 1 case per million population, with less than 50 cases being reported in the literature so far. The disorder occurs with no ge... | Congenital analbuminemia | c0878666 | 5,525 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86816 | 2021-01-23T17:11:20 | {"omim": ["616000"], "icd-10": ["R77.0"]} |
Intrauterine hypoxia
Micrograph of a placental infarct (left of image), a cause of intrauterine hypoxia. H&E stain.
SpecialtyPediatrics
Intrauterine hypoxia (also known as fetal hypoxia) occurs when the fetus is deprived of an adequate supply of oxygen. It may be due to a variety of reasons such as prolapse ... | Intrauterine hypoxia | c0015924 | 5,526 | wikipedia | https://en.wikipedia.org/wiki/Intrauterine_hypoxia | 2021-01-18T18:51:52 | {"mesh": ["D005311"], "icd-9": ["768"], "icd-10": ["P21", "P20"], "wikidata": ["Q4113828"]} |
## Clinical Features
Le Merrer et al. (1991) described 4 patients from the same family with a characteristic localization of chondromatosis: clavicle, upper end of humerus, and lower end of femur (hence, 'geno-' for knee). The patients were a mother and her daughter and 2 sons. The condition showed a benign cou... | GENOCHONDROMATOSIS | c1300229 | 5,527 | omim | https://www.omim.org/entry/137360 | 2019-09-22T16:40:50 | {"mesh": ["C563215"], "omim": ["137360"], "orphanet": ["93398", "85197"], "synonyms": []} |
Benign prostatic hyperplasia
Other namesBenign enlargement of the prostate (BEP, BPE), adenofibromyomatous hyperplasia, benign prostatic hypertrophy,[1] benign prostatic obstruction[1]
Diagram of a normal prostate (left) and benign prostatic hyperplasia (right)
SpecialtyUrology
SymptomsFrequent urination, tro... | Benign prostatic hyperplasia | c1704272 | 5,528 | wikipedia | https://en.wikipedia.org/wiki/Benign_prostatic_hyperplasia | 2021-01-18T18:44:46 | {"mesh": ["D011470"], "umls": ["C1704272"], "icd-9": ["600"], "icd-10": ["N40"], "wikidata": ["Q506659"]} |
Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precoci... | Precocious puberty | c3805879 | 5,529 | gard | https://rarediseases.info.nih.gov/diseases/7446/precocious-puberty | 2021-01-18T17:58:12 | {"omim": ["176400"], "synonyms": ["Sexual precocity", "Idiopathic sexual precocity", "Familial precocious puberty"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive hypophosphatemic rickets-2 (ARHR2) is caused by homozygous mutation in the ENPP1 gene (173335) on chromosome 6q.
Mutation in ENPP1 also causes generalized arterial calcification of infancy (GACI; 208000).
For a general phenotypic... | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 | c2750078 | 5,530 | omim | https://www.omim.org/entry/613312 | 2019-09-22T15:59:02 | {"doid": ["0050949"], "mesh": ["C567647"], "omim": ["613312"], "orphanet": ["289176"], "synonyms": ["ARHR"]} |
A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.
## Epidemiology
The prevalence is estimated at about 1/1,000,000. Approximately 2/3 of patients a... | Stiff person spectrum disorder | c0085292 | 5,531 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3198 | 2021-01-23T17:14:26 | {"gard": ["5023"], "mesh": ["D016750"], "omim": ["184850"], "umls": ["C0085292"], "icd-10": ["G25.8"], "synonyms": ["Moersch-Woltman syndrome", "SMS", "SPS", "Stiff man syndrome"]} |
Tailor's bunion
Other namesBunionette or Digitus quintus varus
Radiograph showing a tailor's bunion
SpecialtyPodiatry
Tailor's bunion is a condition caused as a result of inflammation of the fifth metatarsal bone at the base of the little toe.[1]
It is usually characterized by inflammation, pain and redne... | Tailor's bunion | c0263957 | 5,532 | wikipedia | https://en.wikipedia.org/wiki/Tailor%27s_bunion | 2021-01-18T18:59:58 | {"mesh": ["D050489"], "wikidata": ["Q2928210"]} |
Congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood
Congenital dyserythropoietic anemia
Other namesCDA[1]
CDA causes decrease in red blood cells
Spec... | Congenital dyserythropoietic anemia | c0002876 | 5,533 | wikipedia | https://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia | 2021-01-18T18:57:49 | {"gard": ["1999"], "mesh": ["D000742"], "umls": ["C0002876"], "icd-9": ["285.8"], "orphanet": ["85"], "wikidata": ["Q5160422"]} |
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth fi... | Cleft palate-large ears-small head syndrome | c1867023 | 5,534 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2013 | 2021-01-23T17:33:09 | {"gard": ["162"], "mesh": ["C536621"], "omim": ["181180"], "umls": ["C1867023"], "icd-10": ["Q87.8"], "synonyms": ["Say-Barber-Hobbs syndrome"]} |
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
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*[AA]... | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome | None | 5,535 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=521432 | 2021-01-23T17:09:24 | {} |
An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
## Epidemiology
The typical GRACILE syndrome is prevalent in Finland, where it has an incidence of about 1/50,000 births. It has al... | GRACILE syndrome | c1864002 | 5,536 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53693 | 2021-01-23T18:32:26 | {"gard": ["1"], "mesh": ["C537934"], "omim": ["603358"], "umls": ["C1864002"], "icd-10": ["E88.8"], "synonyms": ["Fellman disease", "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"]} |
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland characterized by the triad of a very thin or interrupted pituitary stalk, a misplaced (ectopic) or absent posterior pituitary and a small or absent anterior pituitary, with permanent growth hormone (GH) deficit. Signs and... | Pituitary stalk interruption syndrome | c4053775 | 5,537 | gard | https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome | 2021-01-18T17:58:18 | {"orphanet": ["95496"], "synonyms": ["PSIS", "Ectopic neurohypophysis"]} |
Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.
People with Bietti crystalli... | Bietti crystalline dystrophy | c1859486 | 5,538 | medlineplus | https://medlineplus.gov/genetics/condition/bietti-crystalline-dystrophy/ | 2021-01-27T08:25:43 | {"gard": ["10050"], "mesh": ["C535440"], "omim": ["210370"], "synonyms": []} |
Denial of pregnancy (also called pregnancy denial) is a form of denial exhibited by women to either the fact or the implications of their own pregnancy. One study found that women who denied their pregnancy represented 0.26% of all deliveries.[1] A later study cited that at 20 weeks gestation approximately 1 in 475 p... | Denial of pregnancy | None | 5,539 | wikipedia | https://en.wikipedia.org/wiki/Denial_of_pregnancy | 2021-01-18T18:51:18 | {"wikidata": ["Q3044521"]} |
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. (February 2013)
Injection fibrosis is a complication of intramuscular injection, occurring especially often in infants and children. Injections are of... | Injection fibrosis | c0151649 | 5,540 | wikipedia | https://en.wikipedia.org/wiki/Injection_fibrosis | 2021-01-18T18:47:22 | {"umls": ["C0151649"], "wikidata": ["Q6034286"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-20 (SCAR20) is caused by homozygous mutation in the SNX14 gene (616105) on chromosome 6q14.
Description
Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by se... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 | c4225355 | 5,541 | omim | https://www.omim.org/entry/616354 | 2019-09-22T15:49:10 | {"doid": ["0080066"], "omim": ["616354"], "orphanet": ["397709"], "synonyms": ["Autosomal recessive spinocerebellar ataxia type 20", "Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome", "SCAR20"]} |
Alcoholic liver disease
Other namesAlcohol-related liver disease
Microscopy of liver showing fatty change, cell necrosis, Mallory bodies
SpecialtyGastroenterology
Alcoholic liver disease (ALD), also called alcohol-related liver disease (ARLD), is a term that encompasses the liver manifestations of alcohol ... | Alcoholic liver disease | c0023896 | 5,542 | wikipedia | https://en.wikipedia.org/wiki/Alcoholic_liver_disease | 2021-01-18T18:38:47 | {"mesh": ["D008108"], "icd-9": ["571.1"], "icd-10": ["K70"], "wikidata": ["Q558404"]} |
Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability; low muscle tone (hypotonia); craniofacial malformations; and limb abnorm... | Ring chromosome 15 | c2931703 | 5,543 | gard | https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15 | 2021-01-18T17:57:53 | {"mesh": ["C538035"], "umls": ["C2931703"], "orphanet": ["96177"], "synonyms": ["Chromosome 15 ring", "Ring 15", "R15"]} |
Nodding disease
Other namesNodding syndrome
Map of counties of South Sudan affected by nodding disease. Several of these are in the Central Equatoria state, in the south of the country near the border with Uganda; Juba on the White Nile is the nation's capital. The red district was already affected in 2001, in ye... | Nodding disease | c3658353 | 5,544 | wikipedia | https://en.wikipedia.org/wiki/Nodding_disease | 2021-01-18T18:33:56 | {"gard": ["12133"], "mesh": ["D064128"], "wikidata": ["Q895930"]} |
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is a condition that affects the brain and spinal cord (central nervous system). In particular, the condition affects nerves in specific regions (called tracts) within the spinal cord and the brainstem, which is the part of the brain ... | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | c3809008 | 5,545 | medlineplus | https://medlineplus.gov/genetics/condition/hypomyelination-with-brainstem-and-spinal-cord-involvement-and-leg-spasticity/ | 2021-01-27T08:25:25 | {"omim": ["615281"], "synonyms": []} |
Lowry–MacLean syndrome
SpecialtyDermatology
Lowry–MacLean syndrome is a congenital condition that may be characterized by an ear pit.[1]
## See also[edit]
* Limb–mammary syndrome
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). D... | Lowry–MacLean syndrome | c0796020 | 5,546 | wikipedia | https://en.wikipedia.org/wiki/Lowry%E2%80%93MacLean_syndrome | 2021-01-18T19:01:00 | {"gard": ["3300"], "mesh": ["C537037"], "umls": ["C0796020"], "orphanet": ["2409"], "wikidata": ["Q6694174"]} |
A number sign (#) is used with this entry because of evidence that hypertrophic cardiomyopathy-17 can be caused by heterozygous mutation in the junctophilin gene (JPH2; 605267) on chromosome 20q12.
For a phenotypic description and a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see... | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 | c3151264 | 5,547 | omim | https://www.omim.org/entry/613873 | 2019-09-22T15:57:14 | {"omim": ["613873"]} |
Pediculosis corporis
Other namesPediculosis vestimenti" and Vagabond's disease
This 2006 photograph depicted a dorsal view of a male body louse, Pediculus humanus var. corporis. Some of the external morphologic features displayed by members of the genus Pediculus include an elongated abdominal region without any ... | Pediculosis corporis | c0030758 | 5,548 | wikipedia | https://en.wikipedia.org/wiki/Pediculosis_corporis | 2021-01-18T19:10:08 | {"umls": ["C0030758"], "wikidata": ["Q4364722"]} |
## Description
Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in fa... | XM SYSTEM | c1839088 | 5,549 | omim | https://www.omim.org/entry/314900 | 2019-09-22T16:17:02 | {"omim": ["314900"]} |
A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have als... | L-ferritin deficiency | c3810090 | 5,550 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=440731 | 2021-01-23T17:53:42 | {"omim": ["615604"]} |
A number sign (#) is used with this entry because of evidence that glycosylphosphatidylinositol biosynthesis defect-15 (GPIBD15) is caused by homozygous or compound heterozygous mutation in the GPAA1 gene (603048) on chromosome 8q24.
Description
GPIBD15 is an autosomal recessive disorder characterized by delayed ps... | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | c4540520 | 5,551 | omim | https://www.omim.org/entry/617810 | 2019-09-22T15:44:42 | {"omim": ["617810"], "orphanet": ["529665"], "synonyms": ["GPAA1-related biosynthesis defect", "Alternative titles", "DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA"]} |
Autoimmune blistering diseases
It has been suggested that this article be split into multiple articles. (Discuss) (January 2019)
Pemphigoid
Vesicles and bullae shown on the lower leg, some ruptured leaving a crusted area in bullous pemphigoid
SpecialtyDermatology
Pemphigoid is a group of rare autoimmun... | Pemphigoid | c0030805 | 5,552 | wikipedia | https://en.wikipedia.org/wiki/Pemphigoid | 2021-01-18T19:07:02 | {"mesh": ["D010391"], "umls": ["CL449041"], "icd-9": ["694.5"], "icd-10": ["L12"], "wikidata": ["Q881811"]} |
A number sign (#) is used with this entry because dilated cardiomyopathy-1Y (CMD1Y) and left ventricular noncompaction-9 (LVNC9) are caused by heterozygous mutation in the TPM1 gene (191010) on chromosome 15q22.1.
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyo... | CARDIOMYOPATHY, DILATED, 1Y | c0340427 | 5,553 | omim | https://www.omim.org/entry/611878 | 2019-09-22T16:02:46 | {"doid": ["0110457"], "mesh": ["C536231"], "omim": ["611878"], "orphanet": ["154", "54260"], "genereviews": ["NBK1309"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is caused by homozygous mutation in the AIMP1 gene (603605) on chromosome 4q24.
Description
Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder chara... | LEUKODYSTROPHY, HYPOMYELINATING, 3 | c1850053 | 5,554 | omim | https://www.omim.org/entry/260600 | 2019-09-22T16:23:36 | {"doid": ["0060790"], "mesh": ["C536319"], "omim": ["260600"], "orphanet": ["280270", "280293"], "synonyms": ["PMLD"]} |
A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome arthrochalasia type 1 (EDSARTH1) is caused by heterozygous mutation in the COL1A1 (120150) on chromosome 17q21.
Several forms of osteogenesis imperfecta (see, e.g., OI1, 166200) are also caused by mutation in the COL1A1 gene.
... | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 | c0268345 | 5,555 | omim | https://www.omim.org/entry/130060 | 2019-09-22T16:41:47 | {"omim": ["130060"], "orphanet": ["1899"], "synonyms": ["Alternative titles", "EHLERS-DANLOS SYNDROME, TYPE VIIA, AUTOSOMAL DOMINANT", "EDS VIIA", "ARTHROCHALASIS MULTIPLEX CONGENITA", "EDS VII, MUTANT PROCOLLAGEN TYPE"]} |
Jumping Frenchmen of Maine is a condition characterized by an unusually extreme startle response. The exact cause of the condition is unknown. One theory is that the disorder occurs because of an extreme conditioned response to a particular situation influenced by cultural factors. It was first identified during the ... | Jumping Frenchmen of Maine | c1280764 | 5,556 | gard | https://rarediseases.info.nih.gov/diseases/6803/jumping-frenchmen-of-maine | 2021-01-18T17:59:40 | {"omim": ["244100"], "synonyms": ["Exaggerated startle reflex", "Startle disease", "'jumpers' of Maine"]} |
A number sign (#) is used with this entry because of evidence that it represents a contiguous gene syndrome caused by duplication at chromosome 17q12 (Chr17:31.5-33.6 Mb, NCBI35).
Molecular Genetics
In 290 individuals with mental retardation, Sharp et al. (2006) used BAC array CGH to investigate 130 candidate chrom... | CHROMOSOME 17q12 DUPLICATION SYNDROME | c3281137 | 5,557 | omim | https://www.omim.org/entry/614526 | 2019-09-22T15:54:54 | {"doid": ["0060433"], "omim": ["614526"], "orphanet": ["261272"], "synonyms": ["Dup(17)(q12)", "Trisomy 17q12"], "genereviews": ["NBK344340"]} |
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top o... | Lujan syndrome | c0796022 | 5,558 | gard | https://rarediseases.info.nih.gov/diseases/3307/lujan-syndrome | 2021-01-18T17:59:19 | {"mesh": ["C537724"], "omim": ["309520"], "umls": ["C0796022"], "orphanet": ["776"], "synonyms": ["Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies"]} |
Vision disorder
Disability-adjusted life year for vision disorders (age-related) per 100,000 inhabitants in 2002.[1]
no data
less than 100
100–200
200–300
300–400
400–450
450–500
500–600
600–700
700–750
750–800
800–850
more than 850
SpecialtyOphthalmology
A vision disorder is an impairment of... | Vision disorder | c0018975 | 5,559 | wikipedia | https://en.wikipedia.org/wiki/Vision_disorder | 2021-01-18T19:05:03 | {"mesh": ["D014786"], "icd-9": ["368.8"], "icd-10": ["H53.8"], "wikidata": ["Q767669"]} |
Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disease have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
Signs and s... | Sickle cell disease | c0002895 | 5,560 | medlineplus | https://medlineplus.gov/genetics/condition/sickle-cell-disease/ | 2021-01-27T08:25:24 | {"gard": ["8614"], "mesh": ["D000755"], "omim": ["603903"], "synonyms": []} |
Minimal mesangial glomerulonephritis
SpecialtyNephrology
Minimal mesangial glomerulonephritis is a type of glomerulonephritis is seen in 10% to 25% of SLE cases, and is associated with mild clinical symptoms. Immune complexes deposit in the mesangium, with a slight increase in the mesangial matrix and cellular... | Minimal mesangial glomerulonephritis | None | 5,561 | wikipedia | https://en.wikipedia.org/wiki/Minimal_mesangial_glomerulonephritis | 2021-01-18T19:10:47 | {"wikidata": ["Q6865321"]} |
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.
## Epidemiology
Prevalence is unknown but around 40 cases have been... | Distal monosomy 10q | c2674937 | 5,562 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96148 | 2021-01-23T18:15:33 | {"gard": ["3711"], "mesh": ["C567182"], "omim": ["609625"], "umls": ["C2674937"], "icd-10": ["Q93.5"], "synonyms": ["Distal deletion 10q", "Monosomy 10qter", "Telomeric deletion 10q"]} |
Not to be confused with Leiomyosarcoma.
Uterine fibroids
Other namesUterine leiomyoma, uterine myoma, myoma, fibromyoma, fibroleiomyoma
Uterine fibroids as seen during laparoscopic surgery
SpecialtyGynecology
SymptomsPainful or heavy periods[1]
ComplicationsInfertility[1]
Usual onsetMiddle and later repr... | Uterine fibroid | c0042133 | 5,563 | wikipedia | https://en.wikipedia.org/wiki/Uterine_fibroid | 2021-01-18T18:52:17 | {"mesh": ["D007889"], "umls": ["C0042133"], "wikidata": ["Q556281"]} |
Acquired angioedema (AAE) is a rare disorder that causes recurrent episodes of swelling (edema) of the face or body, lasting several days. People with AAE may have swelling of the face, lips, tongue, limbs, or genitals. People with AAE can have edema of the lining of the digestive tract, which can cause abdominal... | Acquired angioedema | c2931758 | 5,564 | gard | https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema | 2021-01-18T18:02:22 | {"mesh": ["C538173"], "umls": ["C2931758"], "orphanet": ["91385"], "synonyms": ["Angioedema, acquired", "Acquired C1 inhibitor deficiency"]} |
Chondrocalcinosis
X-ray of a knee with chondrocalcinosis
SpecialtyRadiology
Chondrocalcinosis or cartilage calcification is calcification (accumulation of calcium salts) in hyaline cartilage and/or fibrocartilage.[1] It can be seen on radiography.
## Causes[edit]
Buildup of calcium phosphate in the ankle j... | Chondrocalcinosis | c0553730 | 5,565 | wikipedia | https://en.wikipedia.org/wiki/Chondrocalcinosis | 2021-01-18T18:44:57 | {"mesh": ["D002805"], "umls": ["C0033802", "C0553730", "C0157852"], "orphanet": ["1416"], "wikidata": ["Q559082"]} |
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bra... | Lethal neonatal spasticity-epileptic encephalopathy syndrome | c3281029 | 5,566 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435845 | 2021-01-23T18:02:55 | {"omim": ["614498", "618056"], "icd-10": ["G40.4"], "synonyms": ["Lethal neonatal rigidity-multifocal seizure syndrome"]} |
A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism.
## Epidemiology
To date only 4 cases from 2 families have been reported in the literature.
## Cl... | Tall stature-intellectual disability-renal anomalies syndrome | c4310715 | 5,567 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=500095 | 2021-01-23T17:54:41 | {"omim": ["617107"], "synonyms": ["Thauvin-Robinet-Faivre syndrome"]} |
Megarbane (2003) reported 2 male cousins, both with consanguineous parents, who presented with severe mental retardation, microcephaly with elongated faces, seizure disorders, short stature, hypertelorism, optic atrophy, ptosis, absent ear lobes, and thin upper lips. A brain MRI of 1 cousin showed only slight bilater... | MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE | c1836915 | 5,568 | omim | https://www.omim.org/entry/609037 | 2019-09-22T16:06:49 | {"mesh": ["C563810"], "omim": ["609037"]} |
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compen... | Familial dilated cardiomyopathy | c1449563 | 5,569 | medlineplus | https://medlineplus.gov/genetics/condition/familial-dilated-cardiomyopathy/ | 2021-01-27T08:25:32 | {"gard": ["2905"], "mesh": ["D002311"], "omim": ["115200", "612158", "600884", "612877", "601493", "601494", "613172", "601154", "613252", "604145", "604288", "613881", "604765", "615184", "605362", "615235", "605582", "615248", "606685", "607482", "608569", "609909", "609915", "613424", "613426", "613694", "613697", "... |
A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-22 with or without anosmia (HH22) is caused by homozygous mutation in the FEZF1 gene (613301) on chromosome 7q31.
Description
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by abse... | HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA | c0162809 | 5,570 | omim | https://www.omim.org/entry/616030 | 2019-09-22T15:50:05 | {"doid": ["0090081"], "mesh": ["D017436"], "omim": ["616030"], "orphanet": ["478"], "genereviews": ["NBK1334"]} |
Analgesic nephropathy
Classically caused by mixed analgesics containing phenacetin, analgesic nephropathy was once a common cause of acute kidney injury.
SpecialtyNephrology
Analgesic nephropathy is injury to the kidneys caused by analgesic medications such as aspirin, bucetin, phenacetin, and paracetamol. T... | Analgesic nephropathy | c0149938 | 5,571 | wikipedia | https://en.wikipedia.org/wiki/Analgesic_nephropathy | 2021-01-18T18:42:07 | {"icd-9": ["584.7", "583.89"], "icd-10": ["N14.0"], "wikidata": ["Q120062"]} |
The topic of this article may not meet Wikipedia's general notability guideline. Please help to demonstrate the notability of the topic by citing reliable secondary sources that are independent of the topic and provide significant coverage of it beyond a mere trivial mention. If notability cannot be shown, the ar... | Vermiphobia | None | 5,572 | wikipedia | https://en.wikipedia.org/wiki/Vermiphobia | 2021-01-18T18:42:21 | {"wikidata": ["Q4422074"]} |
Jacobsen (1968) concluded that low proteolytic capacity is inherited as an autosomal dominant. Increased tendency to thrombosis did not occur in these persons.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehy... | PROTEOLYTIC CAPACITY OF PLASMA | c1867621 | 5,573 | omim | https://www.omim.org/entry/176900 | 2019-09-22T16:35:40 | {"omim": ["176900"]} |
## Clinical Features
Rafiq et al. (2010) reported a consanguineous Pakistani family in which 4 sibs had autosomal recessive nonsyndromic mental retardation. One of the patients had seizures.
Mapping
By genomewide analysis using SNP microarrays in a consanguineous Pakistani family segregating autosomal recessive n... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 | c3280154 | 5,574 | omim | https://www.omim.org/entry/614208 | 2019-09-22T15:56:02 | {"doid": ["0060308"], "omim": ["614208"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
A displaced supracondylar fracture in a child
Distal humeral fractures are a group of humerus fracture which includes supracondylar fractures, single condyle fractures, bi-column fractures and coronal shear fractures.[1]
## References[edit]
1. ^ Attum, B (6 June 2019). "Humerus Fractures Overview". StatPearls. P... | Distal humeral fracture | c0272613 | 5,575 | wikipedia | https://en.wikipedia.org/wiki/Distal_humeral_fracture | 2021-01-18T18:37:58 | {"umls": ["C0272613"], "icd-10": ["S42.4"], "wikidata": ["Q1229341"]} |
Inborn errors of purine–pyrimidine metabolism
SpecialtyEndocrinology
Inborn errors of purine–pyrimidine metabolism are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine metabolism. An example is Lesch–Nyhan syndrome.
Urine tests may be of use in identi... | Inborn errors of purine–pyrimidine metabolism | c0034139 | 5,576 | wikipedia | https://en.wikipedia.org/wiki/Inborn_errors_of_purine%E2%80%93pyrimidine_metabolism | 2021-01-18T18:43:20 | {"mesh": ["D011686"], "umls": ["C0034139"], "orphanet": ["79224"], "wikidata": ["Q3281375"]} |
Lichen aureus
Other namesLichen purpuricus[1]
SpecialtyDermatology
Lichen aureus is a skin condition characterized by the sudden appearance of one or several golden or rust-colored, closely packed macules or lichenoid papules.[2]:830
## See also[edit]
* Pigmentary purpuric eruptions
* List of cutan... | Lichen aureus | c0406514 | 5,577 | wikipedia | https://en.wikipedia.org/wiki/Lichen_aureus | 2021-01-18T18:28:52 | {"umls": ["C0406514"], "wikidata": ["Q6543198"]} |
Fibrin-associated diffuse large B-cell lymphoma
SpecialtyHematology, oncology
Diagnostic methodHistology of involved tissue
Prognosisgood to excellent
Frequencyextremely rare
Deathsrare, none due directly to the diseae
Fibrin-associated diffuse large B-cell lymphoma (FA-DLBCL) is an extremely rare ... | Fibrin-associated diffuse large B-cell lymphoma | None | 5,578 | wikipedia | https://en.wikipedia.org/wiki/Fibrin-associated_diffuse_large_B-cell_lymphoma | 2021-01-18T18:30:53 | {"umls": ["CL552155"], "wikidata": ["Q96377889"]} |
Abnormally small mouth
Microstomia
SpecialtyMedical genetics
Microstomia is a small mouth (micro- a combining form meaning small + -stomia a combining form meaning mouth = (abnormally) "small mouth" in Greek.)
## Contents
* 1 Congenital
* 2 Acquired
* 3 References
* 4 External links
## Congenital[e... | Microstomia | c0026034 | 5,579 | wikipedia | https://en.wikipedia.org/wiki/Microstomia | 2021-01-18T18:29:26 | {"mesh": ["D008865"], "umls": ["C0026034"], "icd-9": ["744.84"], "icd-10": ["Q18.5"], "wikidata": ["Q6840355"]} |
A number sign (#) is used with this entry because Waardenburg syndrome type 4B (WS4B) is caused by homozygous and heterozygous mutation in the endothelin-3 gene (EDN3; 131242) on chromosome 20q13.
Description
Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalitie... | WAARDENBURG SYNDROME, TYPE 4B | c3266898 | 5,580 | omim | https://www.omim.org/entry/613265 | 2019-09-22T15:59:09 | {"doid": ["0110954"], "mesh": ["D014849"], "omim": ["613265"], "orphanet": ["897"], "synonyms": ["Alternative titles", "WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE", "WAARDENBURG SYNDROME, TYPE IVB"]} |
## Description
Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization are known to have a structural defect of tonofibrils. (1) In the harlequin fetus (242500), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein s... | ICHTHYOSIS HYSTRIX GRAVIOR | c0432311 | 5,581 | omim | https://www.omim.org/entry/146600 | 2019-09-22T16:39:38 | {"mesh": ["C536087"], "omim": ["146600"], "orphanet": ["79504"], "synonyms": ["Alternative titles", "ICHTHYOSIS, LAMBERT TYPE", "PORCUPINE MAN"]} |
A number sign (#) is used with this entry because of evidence that the harlequin fetus type of congenital ichthyosis, here symbolized ARCI4B, is caused by homozygous or compound heterozygous mutation in the ABCA12 gene (607800) on chromosome 2q35.
Mutation in the ABCA12 gene can cause another form of ichthyosis, ARC... | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | c0239849 | 5,582 | omim | https://www.omim.org/entry/242500 | 2019-09-22T16:26:30 | {"doid": ["0060713"], "mesh": ["D017490"], "omim": ["242500"], "icd-10": ["Q80.4"], "orphanet": ["457"], "synonyms": ["Alternative titles", "ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE", "HARLEQUIN ICHTHYOSIS", "'HARLEQUIN FETUS'"], "genereviews": ["NBK1420"]} |
2009 global H1N1 influenza virus pandemic
2009 swine flu pandemic
50,000+ confirmed cases
5,000–49,999 confirmed cases
500–4,999 confirmed cases
50–499 confirmed cases
5–49 confirmed cases
1–4 confirmed cases
No confirmed cases
DiseaseInfluenza
Virus strainPandemic H1N1/09 virus
LocationWorldwide... | 2009 swine flu pandemic | None | 5,583 | wikipedia | https://en.wikipedia.org/wiki/2009_swine_flu_pandemic | 2021-01-18T18:30:19 | {"wikidata": ["Q101452"]} |
Condition of markedly elevated blood pressure with diastolic pressure typically greater than 120 mm Hg
Hypertensive emergency
Other namesMalignant hypertension, hypertensive crises
CT scan depicting intracranial hemorrhage, a possible complication of hypertensive emergency. Patients with spontaneous intracra... | Hypertensive emergency | c0020540 | 5,584 | wikipedia | https://en.wikipedia.org/wiki/Hypertensive_emergency | 2021-01-18T18:49:05 | {"mesh": ["D006974"], "umls": ["C0020540"], "icd-9": ["401", "405"], "icd-10": ["I16.1"], "wikidata": ["Q1641132"]} |
Tibial plateau fracture
Other namesFractures of the tibial plateau
A severe tibial plateau fracture with an associated fibular head fracture
SpecialtyOrthopedics
SymptomsPain, swelling, decreased ability to move the knee[1]
ComplicationsInjury to the artery or nerve, compartment syndrome[1]
TypesType ... | Tibial plateau fracture | c0262489 | 5,585 | wikipedia | https://en.wikipedia.org/wiki/Tibial_plateau_fracture | 2021-01-18T19:00:04 | {"wikidata": ["Q7800447"]} |
The bisexual pride flag.
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
* Sa... | Biphobia | None | 5,586 | wikipedia | https://en.wikipedia.org/wiki/Biphobia | 2021-01-18T18:43:25 | {"wikidata": ["Q747592"]} |
A number sign (#) is used with this entry because Miyoshi muscular dystrophy-1 (MMD1) can be caused by homozygous mutation in the gene encoding dysferlin (DYSF; 603009) on chromosome 2p13.
A form of limb-girdle muscular dystrophy (LGMD2B; 253601) is also caused by mutation in the dysferlin gene.
Description
Mi... | MIYOSHI MUSCULAR DYSTROPHY 1 | c1850808 | 5,587 | omim | https://www.omim.org/entry/254130 | 2019-09-22T16:24:42 | {"doid": ["0070199"], "omim": ["254130"], "orphanet": ["45448"], "synonyms": ["Alternative titles", "MIYOSHI MYOPATHY", "MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL RECESSIVE"], "genereviews": ["NBK1303"]} |
## Summary
### Clinical characteristics.
PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features:
* Infantile neuroaxonal dystrophy (INAD)
* Atypical neuroaxonal dystrophy (atypical NAD)
* PLA2G6-related dystonia-parkinsonism
I... | PLA2G6-Associated Neurodegeneration | c0270724 | 5,588 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1675/ | 2021-01-18T21:06:12 | {"mesh": ["D019150"], "synonyms": ["NBIA2", "PLA2G6-Related Disorders", "PLAN"]} |
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Find sources: "Effective safety training" – news · newspapers · books · scholar · JSTOR (January 2011) (Learn how and when to remove t... | Effective safety training | None | 5,589 | wikipedia | https://en.wikipedia.org/wiki/Effective_safety_training | 2021-01-18T18:53:48 | {"wikidata": ["Q5347280"]} |
For other uses, see Ptosis (disambiguation).
Gastroptosis
SpecialtyGastroenterology
Risk factorsFemale gender[1]
Diagnostic methodX-ray with barium contrast[1]
Gastroptosis is the abnormal downward displacement of the stomach. It is not a life-threatening condition. The condition frequently causes digesti... | Gastroptosis | c0156088 | 5,590 | wikipedia | https://en.wikipedia.org/wiki/Gastroptosis | 2021-01-18T18:40:51 | {"icd-9": ["537.5"], "icd-10": ["K31.8"], "wikidata": ["Q5526882"]} |
Selmanowitz et al. (1970) suggested that fibrosis is associated with hydronephrosis and urinary tract abnormalities on a familial basis. They reported a single case, a 44-year-old woman with multiple nodules on the legs and two elsewhere and a double collecting system of the right kidney. Gelfarb and Hyman (1962)... | NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES | c1834143 | 5,591 | omim | https://www.omim.org/entry/163850 | 2019-09-22T16:37:20 | {"mesh": ["C563512"], "omim": ["163850"]} |
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. (February 2013)
Retrocolic hernia
SpecialtyGastroenterology
A retrocolic hernia is a medical condition consisting of the entrapment of portions of ... | Retrocolic hernia | None | 5,592 | wikipedia | https://en.wikipedia.org/wiki/Retrocolic_hernia | 2021-01-18T18:33:00 | {"wikidata": ["Q7317002"]} |
A number sign (#) is used with this entry because of evidence that autosomal visceral heterotaxy-6 (HTX6) is caused by homozygous mutation in the CCDC11 gene (614759) on chromosome 18q21.
For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Clinical Features
Perles et al. (2... | HETEROTAXY, VISCERAL, 6, AUTOSOMAL | c3178805 | 5,593 | omim | https://www.omim.org/entry/614779 | 2019-09-22T15:54:16 | {"doid": ["0050545"], "mesh": ["D059446"], "omim": ["614779"], "orphanet": ["450"]} |
A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
## Epidemiology
Approximately 200 cases have been reported to date and the condition ... | 3M syndrome | c1848862 | 5,594 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2616 | 2021-01-23T19:09:23 | {"gard": ["5667"], "mesh": ["C535314"], "omim": ["273750", "612921", "614205"], "umls": ["C1848862", "C1851996", "C2678312"], "icd-10": ["Q87.1"], "synonyms": ["3-M syndrome", "Yakut short stature syndrome"]} |
Unexplained infertility is infertility that is idiopathic in the sense that its cause remains unknown even after an infertility work-up, usually including semen analysis in the man and assessment of ovulation and fallopian tubes in the woman.[1]
## Contents
* 1 Possible causes
* 2 Prevalence
* 3 Management
... | Unexplained infertility | c0404585 | 5,595 | wikipedia | https://en.wikipedia.org/wiki/Unexplained_infertility | 2021-01-18T18:48:28 | {"umls": ["C0404585"], "wikidata": ["Q686627"]} |
ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart... | ADNP syndrome | c4014538 | 5,596 | gard | https://rarediseases.info.nih.gov/diseases/12931/adnp-syndrome | 2021-01-18T18:02:16 | {"omim": ["615873"], "orphanet": ["404448"], "synonyms": ["Helsmoortel-Van Der Aa Syndrome", "ADNP-related syndromic intellectual disability-autism spectrum disorder", "HVDAS", "Helsmoortel-van der Aa Syndrome"]} |
A number sign (#) is used with this entry because tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency (HPABH4D) is caused by homozygous or compound heterozygous mutation in the PCBD gene (126090), which encodes an enzyme involved in the salvage pa... | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D | c0751436 | 5,597 | omim | https://www.omim.org/entry/264070 | 2019-09-22T16:23:13 | {"mesh": ["D010661"], "omim": ["264070"], "orphanet": ["238583", "1578"], "synonyms": ["Alternative titles", "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY", "HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA", "CADH DEFICIENCY", "PCBD DEFICIENCY"]} |
Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When presen... | Abdominal cystic lymphangioma | c2930929 | 5,598 | gard | https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma | 2021-01-18T18:02:24 | {"mesh": ["C535553"], "umls": ["C2930929"], "synonyms": ["Retroperitoneal cystic lymphangioma", "RCL", "Abdominal retroperitoneal lymphangioma"]} |
Metal toxicity or metal poisoning is the toxic effect of certain metals in certain forms and doses on life. Some metals are toxic when they form poisonous soluble compounds. Certain metals have no biological role, i.e. are not essential minerals, or are toxic when in a certain form.[1] In the case of lead, any measur... | Metal toxicity | c0274869 | 5,599 | wikipedia | https://en.wikipedia.org/wiki/Metal_toxicity | 2021-01-18T18:59:55 | {"mesh": ["D000075322", "D020260"], "umls": ["C0274869"], "icd-10": ["T56"], "wikidata": ["Q4215775"]} |
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