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Pain management during childbirth
Mother in labor appears to be in pain
Specialtyobstetrician
[edit on Wikidata]
Pain management during childbirth is the treatment or prevention of pain that a woman may experience during labor and delivery. The amount of pain a woman feels during labor depends par... | Pain management during childbirth | c0474368 | 200 | wikipedia | https://en.wikipedia.org/wiki/Pain_management_during_childbirth | 2021-01-18T18:46:09 | {"mesh": ["D048949"], "wikidata": ["Q5414183"]} |
In the apparently unique family reported by Lynch et al. (1960), 5 males in 3 generations showed both secondary hypogonadism (associated with low titers of pituitary gonadotropic hormones) and congenital ichthyosis. The authors suggested that close linkage may be responsible for the occurrence of hypogonadism wit... | ICHTHYOSIS AND MALE HYPOGONADISM | c0270709 | 201 | omim | https://www.omim.org/entry/308200 | 2019-09-22T16:18:08 | {"mesh": ["C535878"], "omim": ["308200"], "orphanet": ["431"]} |
Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea... | Small cell lung cancer | c0149925 | 202 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70573 | 2021-01-23T17:22:09 | {"mesh": ["D055752"], "omim": ["182280"], "umls": ["C0149925"], "icd-10": ["C34.9"], "synonyms": ["SCLC"]} |
Lev's disease
Other namesLenegre–Lev syndrome
SpecialtyCardiology
Lev's disease is an acquired complete heart block due to idiopathic fibrosis and calcification of the electrical conduction system of the heart. Lev's disease is most commonly seen in the elderly, and is often described as senile degeneration ... | Lev's disease | c1879286 | 203 | wikipedia | https://en.wikipedia.org/wiki/Lev%27s_disease | 2021-01-18T18:47:28 | {"mesh": ["C566873"], "umls": ["C1879286"], "icd-9": ["426.0"], "wikidata": ["Q3961680"]} |
Unintended side effects of vaccines which may be beneficial or bad
Women and children in line for a vaccination in Guinea-Bissau. It is estimated that millions of child deaths could be prevented every year if the non-specific effects of vaccines were taken into consideration in immunization programs.[1]
Non-spe... | Non-specific effect of vaccines | None | 204 | wikipedia | https://en.wikipedia.org/wiki/Non-specific_effect_of_vaccines | 2021-01-18T18:29:35 | {"umls": ["C3658217"], "wikidata": ["Q19885439"]} |
## Summary
### Clinical characteristics.
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies,... | Kabuki Syndrome | c0796004 | 205 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK62111/ | 2021-01-18T21:16:29 | {"mesh": ["C537705"], "synonyms": ["Kabuki Make-Up Syndrome", "Niikawa-Kuroki Syndrome"]} |
Neuroglycopenia is a shortage of glucose (glycopenia) in the brain, usually due to hypoglycemia. Glycopenia affects the function of neurons, and alters brain function and behavior. Prolonged or recurrent neuroglycopenia can result in loss of consciousness, damage to the brain, and eventual death.[1][2][3]
## Content... | Neuroglycopenia | c0342311 | 206 | wikipedia | https://en.wikipedia.org/wiki/Neuroglycopenia | 2021-01-18T18:31:56 | {"umls": ["C0342311"], "wikidata": ["Q10336460"]} |
A number sign (#) is used with this entry because homocystinuria-megaloblastic anemia, cblG complementation type, is caused by homozygous or compound heterozygous mutation in the MTR gene (156570) on chromosome 1q43.
Description
Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metab... | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | c1855128 | 207 | omim | https://www.omim.org/entry/250940 | 2019-09-22T16:25:15 | {"mesh": ["C565394"], "omim": ["250940"], "orphanet": ["2170", "622"], "synonyms": ["Alternative titles", "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE", "METHYLCOBALAMIN DEFICIENCY, cblG TYPE", "METHIONINE SYNTHASE DEFICIENCY"], "genereviews": ["NBK1328"]} |
Disease of arteries, arterioles and capillaries
This article is about the vascular phenomenon. For other uses, see Embolism (disambiguation).
Not to be confused with ebullism or aneurysm.
Embolism
Micrograph of embolic material in the artery of a kidney. The kidney was surgically removed because of cancer. H&E s... | Embolism | c0013922 | 208 | wikipedia | https://en.wikipedia.org/wiki/Embolism | 2021-01-18T18:46:56 | {"mesh": ["D004617"], "icd-9": ["444.9"], "icd-10": ["T79.0", "O88", "I82", "I74", "T79.1"], "wikidata": ["Q275466"]} |
Gitelman syndrome
Other namesPrimary renal tubular hypokalemic hypomagnesemia with hypocalciuria
A model of transport mechanisms in the distal convoluted tubule. Sodium chloride (NaCl) enters the cell via the apical thiazide-sensitive NCC and leaves the cell through the basolateral Cl− channel (ClC-Kb), and t... | Gitelman syndrome | c0268450 | 209 | wikipedia | https://en.wikipedia.org/wiki/Gitelman_syndrome | 2021-01-18T18:37:11 | {"gard": ["8547"], "mesh": ["D053579"], "umls": ["C0268450"], "icd-10": ["N25.8", "E83.4", "E87.6"], "orphanet": ["358"], "wikidata": ["Q1053120"]} |
## Clinical Features
Atkin et al. (1985) reported a 3-generation family with 11 moderately to severely retarded males and 3 mildly retarded females. Phenotypic manifestations included short stature, macrocephaly, 'coarse' facial features with prominent forehead and supraorbital ridges, hypertelorism, broad nasa... | ATKIN-FLAITZ SYNDROME | c0796206 | 210 | omim | https://www.omim.org/entry/300431 | 2019-09-22T16:20:20 | {"mesh": ["C538195"], "omim": ["300431"], "orphanet": ["1193"], "synonyms": ["Alternative titles", "ATKIN SYNDROME"]} |
Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disea... | Fitz-Hugh-Curtis syndrome | c0341816 | 211 | gard | https://rarediseases.info.nih.gov/diseases/6452/fitz-hugh-curtis-syndrome | 2021-01-18T18:00:28 | {"mesh": ["C537936"], "synonyms": ["Gonococcal perihepatitis", "Perihepatitis syndrome"]} |
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: "Immunodeficiency–centromeric instability–facial anomalies syndrome" – news · newspapers · books · scholar · JSTOR (Augu... | Immunodeficiency–centromeric instability–facial anomalies syndrome | c0398788 | 212 | wikipedia | https://en.wikipedia.org/wiki/Immunodeficiency%E2%80%93centromeric_instability%E2%80%93facial_anomalies_syndrome | 2021-01-18T19:02:46 | {"mesh": ["C537362"], "umls": ["C0398788"], "orphanet": ["2268"], "wikidata": ["Q1869923"]} |
A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eye... | Stromme syndrome | c1855705 | 213 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=506307 | 2021-01-23T18:29:10 | {"mesh": ["C565460"], "omim": ["243605"], "icd-10": ["Q13.8"], "synonyms": ["Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome", "Jejunal atresia-microcephaly-ocular anomalies syndrome"]} |
A number sign (#) is used with this entry because of evidence that short stature, microcephaly, and endocrine dysfunction (SSMED) is caused by homozygous or compound heterozygous mutation in the XRCC4 gene (194363) on chromosome 5q14.
Description
In patients with SSMED, short stature and microcephaly are apparent a... | SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION | c4225288 | 214 | omim | https://www.omim.org/entry/616541 | 2019-09-22T15:48:35 | {"omim": ["616541"], "orphanet": ["436182"], "synonyms": []} |
Mitral valve prolapse
Other namesFloppy mitral valve syndrome, systolic click murmur syndrome, billowing mitral leaflet, Barlow's syndrome[1]
In mitral valve prolapse, the leaflets of the mitral valve prolapse back into the left atrium.
SpecialtyCardiology
Mitral valve prolapse (MVP) is a valvular heart di... | Mitral valve prolapse | c0026267 | 215 | wikipedia | https://en.wikipedia.org/wiki/Mitral_valve_prolapse | 2021-01-18T18:43:43 | {"mesh": ["D008945"], "umls": ["C0026267"], "icd-9": ["394.0", "424.0"], "wikidata": ["Q735652"]} |
## Summary
### Clinical characteristics.
Sitosterolemia is characterized by:
* Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to ... | Sitosterolemia | c0342907 | 216 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK131810/ | 2021-01-18T20:56:16 | {"mesh": ["C537345"], "synonyms": ["Beta-Sitosterolemia", "Phytosterolæmia", "Phytosterolemia", "Sitosterolæmia"]} |
A number sign (#) is used with this entry because 5 haplotypes arising from 3 coding SNPs in the TAS2R38 gene (607751) are associated with distinct phenotypes of phenylthiocarbamide (PTC) taste sensitivity.
Description
The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on... | THIOUREA TASTING | c1868400 | 217 | omim | https://www.omim.org/entry/171200 | 2019-09-22T16:36:19 | {"omim": ["171200"]} |
Acquired progressive lymphangioma
Other namesBenign lymphangioendothelioma
SpecialtyOncology
Acquired progressive lymphangioma is a group of lymphangiomas that occur anywhere in young individuals, grow slowly, and present as bruise-like lesions or erythematous macules.[1]:597
## See also[edit]
* List of ... | Acquired progressive lymphangioma | c0024217 | 218 | wikipedia | https://en.wikipedia.org/wiki/Acquired_progressive_lymphangioma | 2021-01-18T18:55:16 | {"mesh": ["D008202"], "umls": ["C0024217"], "icd-10": ["D18.1"], "wikidata": ["Q4674778"]} |
Brittle diabetes is a term that is sometimes used to describe hard-to-control diabetes (also called labile diabetes). It is characterized by wide variations or “swings” in blood glucose (sugar) in which blood glucose levels can quickly move from too high (hyperglycemia) to too low (hypoglycemia). These episodes a... | Brittle diabetes | c0342302 | 219 | gard | https://rarediseases.info.nih.gov/diseases/11900/brittle-diabetes | 2021-01-18T18:01:42 | {"mesh": ["D003922"], "synonyms": ["Labile diabetes", "Brittle diabetes mellitus", "Brittle type 1 diabetes"]} |
A rare, multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There three clinical phenotypes recognized, the classical types that present with a prolonged QT interv... | Timothy syndrome | c1832916 | 220 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65283 | 2021-01-23T17:33:37 | {"gard": ["9294"], "mesh": ["C536962"], "omim": ["601005", "618447"], "umls": ["C1832916"], "icd-10": ["I45.8"], "synonyms": ["LQT8", "Long QT syndrome type 8", "Long QT syndrome-syndactyly syndrome"]} |
A number sign (#) is used with this entry because of evidence that this form of congenital cerebellar ataxia with mental retardation (CAMRQ4) is caused by homozygous mutation in the ATP8A2 gene (605870) on chromosome 13q12. One such family has been reported.
Description
Cerebellar ataxia, mental retardation, and dy... | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 | c0394006 | 221 | omim | https://www.omim.org/entry/615268 | 2019-09-22T15:52:43 | {"doid": ["0050997"], "omim": ["615268"], "orphanet": ["1766"], "synonyms": ["Alternative titles", "CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4"]} |
Plexiform fibrohistiocytic tumor is a rare tumor that arises primarily on the upper extremities of children and young adults.[1]:612
## See also[edit]
* Sarcoma
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saund... | Plexiform fibrohistiocytic tumor | c1266126 | 222 | wikipedia | https://en.wikipedia.org/wiki/Plexiform_fibrohistiocytic_tumor | 2021-01-18T18:55:19 | {"umls": ["C1266126"], "wikidata": ["Q16885443"]} |
Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused by mutations ... | Syndactyly type 3 | c1861366 | 223 | gard | https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3 | 2021-01-18T17:57:27 | {"mesh": ["C538154"], "omim": ["186100"], "umls": ["C1861366"], "orphanet": ["93404"], "synonyms": ["SDTY3", "Syndactyly of the ring and little finger", "Syndactyly of fingers four and five", "Ring and little finger syndactyly"]} |
See also: Triploid syndrome
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 2017)
Diploid triploid mosaic
Other namesDiploidy Triploidy, 2n/3n Mixoploidy, Triploidy Mosaicism, Diploid Tripl... | Diploid triploid mosaic | c2932665 | 224 | wikipedia | https://en.wikipedia.org/wiki/Diploid_triploid_mosaic | 2021-01-18T18:53:58 | {"gard": ["10715"], "mesh": ["C548012"], "wikidata": ["Q17138746"]} |
This page will be copied to Wiktionary using the transwiki process.
The information in this article appears to be suited for inclusion in a dictionary, and this article's topic meets Wiktionary's criteria for inclusion, has not been transwikied, and is not already represented. It will be copied into Wiktionary'... | Thrombohemorrhagic event | c1336741 | 225 | wikipedia | https://en.wikipedia.org/wiki/Thrombohemorrhagic_event | 2021-01-18T18:32:19 | {"umls": ["C1336741"], "wikidata": ["Q7798339"]} |
the condition of having more than two paired sets of chromosomes
Not to be confused with "polypoid", resembling a polyp.
This image shows haploid (single), diploid (double), triploid (triple), and tetraploid (quadruple) sets of chromosomes. Triploid and tetraploid chromosomes are examples of polyploidy.
Polypl... | Polyploidy | c0032578 | 226 | wikipedia | https://en.wikipedia.org/wiki/Polyploidy | 2021-01-18T18:35:39 | {"mesh": ["D011123"], "umls": ["C0032578"], "orphanet": ["96321"], "wikidata": ["Q213410"]} |
A number sign (#) is used with this entry because holoprosencephaly-11 (HPE11) is caused by heterozygous mutation in the CDON gene (608707) on chromosome 11q24.
For a general phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Clinical Features
Bae et al. (... | HOLOPROSENCEPHALY 11 | c0079541 | 227 | omim | https://www.omim.org/entry/614226 | 2019-09-22T15:56:00 | {"doid": ["0110877"], "mesh": ["D016142"], "omim": ["614226"], "orphanet": ["2162"]} |
A number sign (#) is used with this entry because of evidence that erythrokeratodermia variabilis et progressiva-6 (EKVP6) is caused by heterozygous mutation in the TRPM4 gene (606936) on chromosome 19q13.
Description
EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year o... | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 | None | 228 | omim | https://www.omim.org/entry/618531 | 2019-09-22T15:41:33 | {"omim": ["618531"]} |
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This article may be confusing or unclear to readers. Please help us clarify the article. There might be a discussion about this on the talk page. (April 2009) (Lea... | Orofacial myofunctional disorders | None | 229 | wikipedia | https://en.wikipedia.org/wiki/Orofacial_myofunctional_disorders | 2021-01-18T18:50:41 | {"wikidata": ["Q1956669"]} |
Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement... | Complement component 2 deficiency | c3150275 | 230 | medlineplus | https://medlineplus.gov/genetics/condition/complement-component-2-deficiency/ | 2021-01-27T08:25:24 | {"gard": ["1452"], "omim": ["217000"], "synonyms": []} |
A rare congenital limb malformation characterized by complete or partial duplication of one of the three middle digits in a hand or foot. It most commonly affects the fourth digit. The malformation may be unilateral or bilateral and can occur as an isolated defect or in association with other anomalies.
*[v]: View... | Central polydactyly | c0431903 | 231 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295004 | 2021-01-23T18:21:50 | {"umls": ["C0431903"], "icd-10": ["Q69.0"], "synonyms": ["Mesoaxial polydactyly"]} |
17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, sho... | 17q23.1q23.2 microdeletion syndrome | c3150607 | 232 | gard | https://rarediseases.info.nih.gov/diseases/10936/17q231q232-microdeletion-syndrome | 2021-01-18T18:02:26 | {"omim": ["613355"], "orphanet": ["261279"], "synonyms": ["Monosomy 17q23.1-q23.2", "Del(17)(q23.1q23.2)", "Chromosome 17q23.1-q23.2 deletion syndrome", "17q23.1-q23.2 microdeletion syndrome", "Monosomy 17q23.1q23.2"]} |
Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis ... | Heterotaxia | c3178805 | 233 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=450 | 2021-01-23T18:14:57 | {"gard": ["10875"], "mesh": ["D059446"], "omim": ["270100", "306955", "601086", "605376", "606325", "613751", "614779", "616749", "617205"], "umls": ["C3178805"], "icd-10": ["Q89.3"], "synonyms": ["Heterotaxy syndrome", "Lateralization defect", "Visceral heterotaxy"]} |
A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.
## Epidemiology
The prevalence is unknown. About 25,000 cases of arachnoiditis ... | Arachnoiditis | c0003708 | 234 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137817 | 2021-01-23T18:21:19 | {"gard": ["5839"], "mesh": ["D001100"], "omim": ["182950"], "umls": ["C0003708", "C0270617"], "icd-10": ["G03.9"], "synonyms": ["Adhesive arachnoiditis", "Chronic arachnoiditis"]} |
Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same f... | Cardiac anomalies-heterotaxy syndrome | None | 235 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137628 | 2021-01-23T18:49:58 | {"icd-10": ["Q28.8"]} |
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-3 (CORD3) is caused by homozygous or compound heterozygous mutation in the ABCA4 (601691) on chromosome 1p22.
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.
Clinic... | CONE-ROD DYSTROPHY 3 | c1858806 | 236 | omim | https://www.omim.org/entry/604116 | 2019-09-22T16:12:29 | {"doid": ["0111013"], "mesh": ["C565827"], "omim": ["604116", "120970"], "orphanet": ["1872"], "synonyms": []} |
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloi... | ABeta amyloidosis, Italian type | c2931672 | 237 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324713 | 2021-01-23T19:00:19 | {"mesh": ["C537944"], "omim": ["605714"], "icd-10": ["E85.4+", "I68.0*"], "synonyms": ["ABetaE22K amyloidosis", "HCHWA, Italian type", "Hereditary cerebral hemorrhage with amyloidosis, Italian type"]} |
Dykes et al. (1979) described 2 brothers, aged 62 and 66 years, who had this combination. Another brother, who died at age 58, had ichthyosis and a progressive neurologic disorder. Dysarthria and ataxia began after age 50. The ichthyosis was of distinctive type. Normal steroid sulfatase excluded the X-linked form (30... | ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION | c1275088 | 238 | omim | https://www.omim.org/entry/242520 | 2019-09-22T16:26:33 | {"mesh": ["C535727"], "omim": ["242520"], "orphanet": ["2274"]} |
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: "Carbamoyl phosphate synthetase I deficiency" – news · newspapers · books · scholar · JSTOR (December 2007) (Learn how a... | Carbamoyl phosphate synthetase I deficiency | c0751753 | 239 | wikipedia | https://en.wikipedia.org/wiki/Carbamoyl_phosphate_synthetase_I_deficiency | 2021-01-18T18:48:56 | {"gard": ["7269"], "mesh": ["D020165"], "umls": ["C0751753"], "icd-9": ["270.6"], "orphanet": ["147"], "wikidata": ["Q5037834"]} |
Killian–Jamieson diverticulum
Killian–Jamieson diverticulum. Arrowhead points at the closed upper esophageal sphincter, arrow points at the diverticulum partly filled with contrast medium.
SpecialtyGastroenterology
A Killian–Jamieson diverticulum is an outpouching of the esophagus just below the upper es... | Killian–Jamieson diverticulum | None | 240 | wikipedia | https://en.wikipedia.org/wiki/Killian%E2%80%93Jamieson_diverticulum | 2021-01-18T19:03:02 | {"wikidata": ["Q1695992"]} |
Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of pe... | Non-hypoproteinemic hypertrophic gastropathy | None | 241 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329883 | 2021-01-23T17:44:58 | {"icd-10": ["K29.6"], "synonyms": ["Hypertrophic gastropathy without hypoproteinemia"]} |
a pattern characterized by disorderly eating foods in every life activity
Binge eating
SpecialtyPsychiatry
SymptomsEating addiction
Binge eating is a pattern of disordered eating which consists of episodes of uncontrollable eating. It is a common symptom of eating disorders such as binge eating disorder and... | Binge eating | c0596170 | 242 | wikipedia | https://en.wikipedia.org/wiki/Binge_eating | 2021-01-18T19:01:25 | {"mesh": ["D056912"], "umls": ["C0596170"], "wikidata": ["Q2303219"]} |
A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide ra... | Isolated split hand-split foot malformation | c0265554 | 243 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2440 | 2021-01-23T18:57:30 | {"gard": ["6319"], "mesh": ["C574275"], "omim": ["183600", "225300", "246560", "313350", "605289", "606708"], "umls": ["C0265554"], "icd-10": ["Q71.6", "Q72.7"], "synonyms": ["Ectrodactyly", "SHFM", "Split hand foot malformation"]} |
## Description
Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. E... | NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT | c1834079 | 244 | omim | https://www.omim.org/entry/164100 | 2019-09-22T16:37:19 | {"mesh": ["C537854"], "omim": ["164100"], "synonyms": ["Alternative titles", "NYSTAGMUS, CONGENITAL MOTOR, 2"]} |
Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often ... | Adenosine monophosphate deaminase 1 deficiency | c0268123 | 245 | gard | https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency | 2021-01-18T18:02:17 | {"omim": ["615511"], "umls": ["C0268123"], "orphanet": ["45"], "synonyms": ["AMP deaminase 1 deficiency", "Myoadenylate deaminase deficiency", "AMPD1 deficiency", "Myopathy due to myoadenylate deaminase deficiency", "MMDD", "Adenosine monophosphate deaminase deficiency", "AMP deaminase deficiency"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-59 (RP59) is caused by homozygous mutation in the DHDDS gene (608172) on chromosome 1p36.
Congenital disorder of glycosylation type Ibb (CDG1BB) can be caused by compound heterozygous mutation in the DHDDs gene. One such patient ... | RETINITIS PIGMENTOSA 59 | c0035334 | 246 | omim | https://www.omim.org/entry/613861 | 2019-09-22T15:57:11 | {"doid": ["0110352"], "mesh": ["D012174"], "omim": ["613861"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
In a family with a form of dominant epidermolysis bullosa present from birth or early life and affecting predominantly the hands and feet, Savolainen et al. (1981) found deficiency of procollagen glucosyltransferase (EC 2.4.1.66), the enzyme that catalyzes glucosylation of galactosylhydroxylysyl residues in the biosy... | EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE | c1851570 | 247 | omim | https://www.omim.org/entry/131880 | 2019-09-22T16:41:32 | {"mesh": ["C565049"], "omim": ["131880"]} |
Dependorf (1912) described bilateral fusion of the deciduous incisors in sisters, aged 4 and 5.5 years, and also a rarer condition, bilateral fusion of a deciduous mandibular canine with the second incisor. See 147250.
Inheritance \- Autosomal recessive Teeth \- Fused deciduous incisors \- Fused mandibular canine... | TEETH, FUSED | c0016873 | 248 | omim | https://www.omim.org/entry/273000 | 2019-09-22T16:21:48 | {"mesh": ["D005671"], "omim": ["273000"], "icd-10": ["K00.2"]} |
A number sign (#) is used with this entry because Fanconi anemia complementation group D1 can be caused by homozygous or compound heterozygous mutation in the BRCA2 gene (600185) on chromosome 13q13.
Description
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instabili... | FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | c1838457 | 249 | omim | https://www.omim.org/entry/605724 | 2019-09-22T16:11:07 | {"doid": ["0111089"], "mesh": ["C563980"], "omim": ["605724"], "orphanet": ["319462"], "synonyms": ["Alternative titles", "FAD1"], "genereviews": ["NBK1294", "NBK1401", "NBK5192"]} |
Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit thi... | Congenital eyelid retraction | c4274470 | 250 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99176 | 2021-01-23T17:05:29 | {"icd-10": ["Q10.3"]} |
A number sign (#) is used with this entry because of evidence that arrhythmogenic right ventricular dysplasia-10 (ARVD10) is caused by heterozygous mutation in the desmoglein-2 gene (DSG2; 125671) on chromosome 18q12.
For a phenotypic description and a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970).... | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | c1862511 | 251 | omim | https://www.omim.org/entry/610193 | 2019-09-22T16:04:58 | {"doid": ["0110081"], "mesh": ["C566254"], "omim": ["107970", "610193"], "orphanet": ["217656", "293888", "293910", "293899"], "synonyms": ["Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form", "Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form", "Familial isol... |
In a 12-year-old girl with obstructive lung disease, the offspring of first-cousin parents, Afzelius et al. (1985) found that the clinical characteristics of the immotile cilia syndrome (see 244400), including chronic rhinitis, sinusitis, bronchitis, severely decreased mucociliary clearance of the lungs, and nasal po... | CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA | c0340036 | 252 | omim | https://www.omim.org/entry/242680 | 2019-09-22T16:26:22 | {"mesh": ["C536287"], "omim": ["242680", "244400"], "orphanet": ["244"], "synonyms": ["IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA", "Alternative titles", "PCD"]} |
Prolapse of the tear gland of the third eyelid in animals
Close-up of a cherry eye
Cherry eye is a disorder of the nictitating membrane (NM), also called the third eyelid, present in the eyes of dogs and cats.[1] Cherry eye is most often seen in young dogs under the age of two.[2] Common misnomers include adenitis,... | Cherry eye | c0521742 | 253 | wikipedia | https://en.wikipedia.org/wiki/Cherry_eye | 2021-01-18T18:45:30 | {"wikidata": ["Q928925"]} |
Sorsby's fundus dystrophy
Other namesSorsby pseudoinflammatory fundus dystrophy
Sorsby's fundus dystrophy is inherited in an autosomal dominant manner.
Sorsby's fundus dystrophy (SFD) is a very rare genetic disorder characterized by the loss of central vision.[1][2][3] It was first described by Sorsby and Ma... | Sorsby's fundus dystrophy | c1850938 | 254 | wikipedia | https://en.wikipedia.org/wiki/Sorsby%27s_fundus_dystrophy | 2021-01-18T18:29:34 | {"gard": ["10511"], "mesh": ["C564992"], "omim": ["136900"], "umls": ["C0339515"], "orphanet": ["59181"], "synonyms": [], "wikidata": ["Q30314095"]} |
Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.
All people with pseudo... | Pseudoachondroplasia | c0410538 | 255 | medlineplus | https://medlineplus.gov/genetics/condition/pseudoachondroplasia/ | 2021-01-27T08:24:35 | {"gard": ["4540"], "mesh": ["C535819"], "omim": ["177170"], "synonyms": []} |
## Clinical Features
Abou Jamra et al. (2011) reported a consanguineous Syrian family (MR013) in which 3 individuals had nonsyndromic mental retardation. Symptoms included mild motor delay, moderate intellectual disability, proper speech and social interaction, and no discrete facial gestalt. Arthrogryposis of smal... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 19 | c3280541 | 256 | omim | https://www.omim.org/entry/614343 | 2019-09-22T15:55:36 | {"doid": ["0060308"], "omim": ["614343"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
Gelatinous drop-like corneal dystrophy
Other namesSubepithelial amyloidosis of the cornea
A completely opaque cornea with multiple drop-like nodular opacities. Some blood vessels are present in the opaque cornea
Apple green dichroism of subepithelial deposition of amyloid viewed under polarized light. Congo ... | Gelatinous drop-like corneal dystrophy | c0339273 | 257 | wikipedia | https://en.wikipedia.org/wiki/Gelatinous_drop-like_corneal_dystrophy | 2021-01-18T18:40:15 | {"gard": ["9647"], "mesh": ["C535480"], "umls": ["C0339273"], "orphanet": ["98957"], "wikidata": ["Q4178686"]} |
Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.
## Epidemiology
Primary cardiac tumours are rare in paediatric practice with a prevalence of 1.7/1000 to 28/1000 in autopsy serie... | Primary pediatric heart tumor | None | 258 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=875 | 2021-01-23T18:49:52 | {"icd-10": ["C38.0", "D15.1"], "synonyms": ["Cardiac tumor of child", "Heart tumor of child"]} |
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (June 2014) (Learn how and when to remove this template message)
Coxa vara
Different femora... | Coxa vara | c0239138 | 259 | wikipedia | https://en.wikipedia.org/wiki/Coxa_vara | 2021-01-18T19:07:44 | {"gard": ["8750"], "mesh": ["D060905"], "umls": ["C0239138"], "icd-9": ["755.62", "736.32"], "icd-10": ["Q65.8", "M21.1"], "wikidata": ["Q1138267"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-43 (EIEE43) is caused by heterozygous mutation in the GABRB3 gene (137192) on chromosome 15q11.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 | c0238111 | 260 | omim | https://www.omim.org/entry/617113 | 2019-09-22T15:46:52 | {"doid": ["0080447"], "mesh": ["D065768"], "omim": ["617113"], "orphanet": ["2382"]} |
These occur at the corners of the mouth. They are frequently of pencil-lead size, from 1 to 4 mm deep and may be filled with cellular debris. Preauricular pits may be associated. Everett and Wescott (1961) found 2 cases among 1,000 school children of Portland, Oregon. Witkop (1965) and these authors found evidence of... | COMMISSURAL LIP PITS | c0399605 | 261 | omim | https://www.omim.org/entry/120500 | 2019-09-22T16:43:02 | {"omim": ["120500"]} |
A number sign (#) is used with this entry because of evidence that familial advanced sleep phase syndrome-3 (FASPS3) is caused by heterozygous mutation in the PER3 gene (603427) on chromosome 1p36. One such family has been reported.
Description
Advanced sleep phase syndrome is characterized by early sleep time (sle... | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 | c1858496 | 262 | omim | https://www.omim.org/entry/616882 | 2019-09-22T15:47:33 | {"doid": ["0110013"], "mesh": ["C565789"], "omim": ["616882"], "orphanet": ["164736"]} |
## Description
Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism ... | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1 | c1837646 | 263 | omim | https://www.omim.org/entry/608638 | 2019-09-22T16:07:26 | {"omim": ["608638"]} |
fungal disease of elm trees spread by beetles
Dutch Elm Disease
Branch death, or flagging, at multiple locations in the crown of a diseased elm
Common namesDED
Causal agentsOphiostoma ulmi
Ophiostoma himal-ulmi
Ophiostoma novo-ulmi
Hostselm trees
Vectorselm bark beetle
EPPO CodeCERAUL
Distrib... | Dutch elm disease | None | 264 | wikipedia | https://en.wikipedia.org/wiki/Dutch_elm_disease | 2021-01-18T18:50:33 | {"wikidata": ["Q845598"]} |
X-ray of 2-month-old female child with ulnar dimelia
Ulnar dimelia, also referred to simply as mirror hand, is a very rare congenital disorder characterized by the absence of the radial ray, duplication of the ulna, duplication of the carpal, metacarpal, and phalanx bones, and symmetric polydactyly. In some cases su... | Ulnar dimelia | c0265585 | 265 | wikipedia | https://en.wikipedia.org/wiki/Ulnar_dimelia | 2021-01-18T18:57:58 | {"umls": ["C0265585"], "wikidata": ["Q55648731"]} |
Chen and D'Souza (1990) described a family in which 3 girls had congenital glaucoma and tetralogy of Fallot. The mother also had congenital glaucoma, but had no heart defect.
Cardiac \- Tetralogy of Fallot Eyes \- Congenital glaucoma Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Di... | TETRALOGY OF FALLOT AND GLAUCOMA | c1861234 | 266 | omim | https://www.omim.org/entry/187501 | 2019-09-22T16:32:56 | {"mesh": ["C536501"], "omim": ["187501"]} |
Musicians experience a number of health problems related to the practice and performance of music.
## Contents
* 1 Health Conditions
* 2 See also
* 3 References
* 4 External links
## Health Conditions[edit]
The most common injury type suffered by musicians is repetitive strain injury (RSIs). A survey of o... | Health problems of musicians | None | 267 | wikipedia | https://en.wikipedia.org/wiki/Health_problems_of_musicians | 2021-01-18T18:55:40 | {"wikidata": ["Q17619740"]} |
Waardenburg Syndrome Type 4A
Other namesShah-Waardenburg Syndrome
Waardenburg Syndrome Type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It results in common Waardenburg syndrome symptoms such as abnormal hair and skin pigmentation and heterochromia, but also... | Waardenburg Syndrome Type 4A | c1848519 | 268 | wikipedia | https://en.wikipedia.org/wiki/Waardenburg_Syndrome_Type_4A | 2021-01-18T18:29:39 | {"mesh": ["C536467"], "umls": ["C1848519"], "orphanet": ["897"], "wikidata": ["Q32145171"]} |
## Clinical Features
Gordon et al. (1976) reported 2 sons, of consanguineous parents, who had ostensibly nonprogressive spastic paraplegia, retinitis pigmentosa, and mental retardation. This may be a distinct disorder. It occurred in an inbred Old American kindred of southern Maryland in which the original cases of... | SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION | c1849112 | 269 | omim | https://www.omim.org/entry/270950 | 2019-09-22T16:22:12 | {"mesh": ["C564808"], "omim": ["270950"], "orphanet": ["3011"]} |
A rare lymphoma characterized by the concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the tumors are clonally related. Clinical presentatio... | Composite lymphoma | c0545080 | 270 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168966 | 2021-01-23T17:12:28 | {"mesh": ["D058617"], "umls": ["C0545080", "C1266191"], "synonyms": ["Composite Hodgkin and non-Hodgkin lymphoma"]} |
Mansonelliasis
Other namesMansonellosis
SpecialtyInfectious disease
Mansonelliasis is the condition of infection by the nematode Mansonella. The disease exists in Africa and tropical Americas, spread by biting midges or blackflies. It is usually asymptomatic.
## Contents
* 1 Symptoms
* 2 Causes
* 3 V... | Mansonelliasis | c0024759 | 271 | wikipedia | https://en.wikipedia.org/wiki/Mansonelliasis | 2021-01-18T18:49:46 | {"gard": ["8216"], "mesh": ["D008368"], "umls": ["C0024759"], "orphanet": ["2459"], "wikidata": ["Q4280605"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 (302960).
Clinical Features
Sheffield et al. (1976) reported several children from Australia with a mild form of chondrodysplasia punctata. The patients presented during infancy with abnormal f... | CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT | c1861578 | 272 | omim | https://www.omim.org/entry/118650 | 2019-09-22T16:43:21 | {"mesh": ["C563248"], "omim": ["118650"]} |
Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and... | Cleft palate-short stature-vertebral anomalies syndrome | None | 273 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2015 | 2021-01-23T16:52:40 | {"gard": ["1392"], "icd-10": ["Q87.0"], "synonyms": ["Mathieu-De Broca-Bony syndrome"]} |
Multiple endocrine neoplasia type 2b
Other namesMEN2B, Mucosal neuromata with endocrine tumors, Multiple endocrine neoplasia type 3 ,Wagenmann–Froboese syndrome[1]
Micrograph of medullary thyroid carcinoma, as may be seen in MEN 2b. H&E stain.
SpecialtyEndocrinology
Multiple endocrine neoplasia type 2B is ... | Multiple endocrine neoplasia type 2B | c0025269 | 274 | wikipedia | https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2B | 2021-01-18T19:07:10 | {"gard": ["10225"], "mesh": ["D018814"], "umls": ["C0025269"], "orphanet": ["247709", "653"], "wikidata": ["Q624748"]} |
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1E can be caused by mutation in the cardiac sodium channel gene SCN5A (600163).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Clinical Feature... | CARDIOMYOPATHY, DILATED, 1E | c0340427 | 275 | omim | https://www.omim.org/entry/601154 | 2019-09-22T16:15:22 | {"doid": ["0110433"], "mesh": ["C536231"], "omim": ["601154"], "orphanet": ["154"], "synonyms": ["Alternative titles", "CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA", "CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2"], "genereviews": ["NBK1309"]} |
22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.
The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, ... | 22q11.2 duplication | c2675369 | 276 | medlineplus | https://medlineplus.gov/genetics/condition/22q112-duplication/ | 2021-01-27T08:25:39 | {"gard": ["10557"], "mesh": ["C567224"], "omim": ["608363"], "synonyms": []} |
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence.
Changes in the way a person walks (gait) and frequent falls are usually the first noticeable si... | Fatty acid hydroxylase-associated neurodegeneration | c3496228 | 277 | medlineplus | https://medlineplus.gov/genetics/condition/fatty-acid-hydroxylase-associated-neurodegeneration/ | 2021-01-27T08:25:33 | {"gard": ["10810"], "mesh": ["C567311"], "omim": ["612319"], "synonyms": []} |
CT scan of the chest showing bilateral lymphadenopathy in the mediastinum due to sarcoidosis.
Bilateral hilar lymphadenopathy is a bilateral enlargement of the lymph nodes of pulmonary hila. It is a radiographic term for the enlargement of mediastinal lymph nodes and is most commonly identified by a chest x-ray.
##... | Bilateral hilar lymphadenopathy | c0456973 | 278 | wikipedia | https://en.wikipedia.org/wiki/Bilateral_hilar_lymphadenopathy | 2021-01-18T18:52:42 | {"umls": ["C0456973"], "wikidata": ["Q16841927"]} |
A rare T-cell non-Hodgkin lymphoma characterized by a proliferation of cytotoxic T-cells, usually gamma delta T-cells, with involvement of the liver and spleen, but without involvement of lymph nodes. The bone marrow is consistently affected. Patients typically present during adolescence or young adulthood with h... | Hepatosplenic T-cell lymphoma | c1333984 | 279 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86882 | 2021-01-23T18:08:56 | {"umls": ["C1333984"], "icd-10": ["C86.1"]} |
Roth et al. (1978) described a family with many cases of painful callosities over pressure points in the hands and feet. There were several instances of male-to-male transmission and affected persons were present in 5 generations. Dupre et al. (1979) suggested that the disorder is not rare. In France the condition is... | CALLOSITIES, HEREDITARY PAINFUL | c1861964 | 280 | omim | https://www.omim.org/entry/114140 | 2019-09-22T16:43:52 | {"mesh": ["C566180"], "omim": ["114140"], "orphanet": ["79141"], "synonyms": ["Alternative titles", "CALLOSITIES, PAINFUL PLANTAR"]} |
Hypertensive disease of pregnancy
Other namesMaternal hypertensive disorder
Frequency20.7 million (2015)[1]
Deaths46,900 (2015)[2]
Hypertensive disease of pregnancy, also known as maternal hypertensive disorder, is a group of high blood pressure disorders that include preeclampsia, preeclampsia superimpose... | Hypertensive disease of pregnancy | c0341934 | 281 | wikipedia | https://en.wikipedia.org/wiki/Hypertensive_disease_of_pregnancy | 2021-01-18T18:44:59 | {"mesh": ["D046110"], "icd-9": ["642.00"], "wikidata": ["Q19001368"]} |
Carey et al. (1990) reported a possible causal relationship between maternal diabetes and hallucal polydactyly, with a very unusual proximal placement of the extra digit. They suggested that this was a useful diagnostic marker of teratogenic effects in infants with multiple congenital abnormalities. Slee and Goldblat... | PREAXIAL HALLUCAL POLYDACTYLY | c1866339 | 282 | omim | https://www.omim.org/entry/601759 | 2019-09-22T16:14:22 | {"mesh": ["C566632"], "omim": ["601759"], "orphanet": ["1926"], "synonyms": []} |
One of the late complications of pelvic inflammatory disease
Tubo-ovarian abscesses(TOA)
Other namesTDA
Drawing showing the sites of Tubo-ovarian abscess
SpecialtyUrology
Tubo-ovarian abscesses are one of the late complications of pelvic inflammatory disease (PID) and can be life-threatening if the absces... | Tubo-ovarian abscess | c0041343 | 283 | wikipedia | https://en.wikipedia.org/wiki/Tubo-ovarian_abscess | 2021-01-18T18:59:59 | {"umls": ["C0041343"], "icd-9": ["614.2"], "icd-10": ["N70"], "wikidata": ["Q19972185"]} |
Papillary thyroid carcinoma is a form of cancer that occurs due to abnormal and uncontrolled cell growth of certain cells (follicular cells) of the thyroid. Many people with papillary thyroid carcinoma have no signs or symptoms of the condition. When present, symptoms may include a small lump at the base of the n... | Papillary thyroid carcinoma | c0238463 | 284 | gard | https://rarediseases.info.nih.gov/diseases/12027/papillary-thyroid-carcinoma | 2021-01-18T17:58:27 | {"mesh": ["D000077273"], "omim": ["188550"], "umls": ["C0238463 "], "orphanet": ["146"], "synonyms": ["Familial nonmedullary thyroid cancer, papillary", "Nonmedullary thyroid carcinoma, papillary"]} |
Copper toxicity
Other namesCopperiedus
A Kayser-Fleischer ring, copper deposits found in the cornea, is an indication the body is not metabolizing copper properly.
SpecialtyToxicology
Copper toxicity is a type of metal poisoning caused by an excess of copper in the body. Copperiedus can occur from eating a... | Copper toxicity | None | 285 | wikipedia | https://en.wikipedia.org/wiki/Copper_toxicity | 2021-01-18T19:08:35 | {"icd-9": ["985.8"], "icd-10": ["T56.4"], "wikidata": ["Q5168803"]} |
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial wea... | Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome | c1833835 | 286 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2743 | 2021-01-23T18:07:45 | {"gard": ["3236"], "mesh": ["C563498"], "omim": ["165150"], "umls": ["C1833835"], "synonyms": ["Levic-Stefanovic-Nikolic syndrome"]} |
Syndrome that causes episodes of increased activity of the sympathetic nervous system
Paroxysmal sympathetic hyperactivity
SpecialtyNeurology
Paroxysmal sympathetic hyperactivity (PSH) is a syndrome that causes episodes of increased activity of the sympathetic nervous system. Hyperactivity of the sympathetic ... | Paroxysmal sympathetic hyperactivity | c4285793 | 287 | wikipedia | https://en.wikipedia.org/wiki/Paroxysmal_sympathetic_hyperactivity | 2021-01-18T18:34:12 | {"wikidata": ["Q17156972"]} |
Hemiplegic migraine
Other namesFamilial or sporadic hemiplegic migraine[1]
Hemiplegic migraine is inherited via autosomal dominant manner
## Contents
* 1 Cause
* 2 Symptoms
* 3 Diagnosis
* 3.1 Classification
* 3.2 Familial hemiplegic migraine
* 3.3 Sporadic hemiplegic migraine
* 4 Sc... | Hemiplegic migraine | c0270862 | 288 | wikipedia | https://en.wikipedia.org/wiki/Hemiplegic_migraine | 2021-01-18T18:37:53 | {"gard": ["10768"], "orphanet": ["569"], "synonyms": [], "wikidata": ["Q30587719"]} |
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. (January 2017)
Centurion syndrome
SpecialtyDermatology
Centurion syndrome is characterized by anterior malposition of the medial part of the li... | Centurion syndrome | None | 289 | wikipedia | https://en.wikipedia.org/wiki/Centurion_syndrome | 2021-01-18T18:53:07 | {"wikidata": ["Q28458440"]} |
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term “axial” means towards the center of the body. “Sphondylos” is a Greek term meaning vertebra. “Metaphyseal dysplasia” refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones... | Axial spondylometaphyseal dysplasia | c1865695 | 290 | gard | https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia | 2021-01-18T18:01:54 | {"mesh": ["C535795"], "omim": ["602271"], "umls": ["C1865695"], "orphanet": ["168549"], "synonyms": ["Axial SMD", "Spondylometaphyseal dysplasia axial type", "SMD Axial"]} |
A number sign (#) is used with this entry because glutaric acidemia I (GA1) is caused by homozygous or compound heterozygous mutation in the gene encoding glutaryl-CoA dehydrogenase (GCDH; 608801) on chromosome 19p13.
Description
Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by glio... | GLUTARIC ACIDEMIA I | c0268595 | 291 | omim | https://www.omim.org/entry/231670 | 2019-09-22T16:27:35 | {"doid": ["0111254"], "mesh": ["C536833"], "omim": ["231670"], "icd-10": ["E72.3"], "orphanet": ["25"], "synonyms": ["Alternative titles", "GLUTARIC ACIDURIA I", "GA I", "GLUTARYL-CoA DEHYDROGENASE DEFICIENCY"]} |
Purpura haemorrhagica is a rare complication of equine strangles and is caused by bleeding from capillaries which results in red spots on the skin and mucous membranes together with oedema (swelling) of the limbs and the head.[1] Purpura hemorrhagica is more common in younger animals.[1]
## Contents
* 1 Pathophys... | Purpura haemorrhagica | c0376362 | 292 | wikipedia | https://en.wikipedia.org/wiki/Purpura_haemorrhagica | 2021-01-18T18:44:39 | {"mesh": ["D011695"], "wikidata": ["Q7261507"]} |
eye condition
"Snow blindness" redirects here. For other uses, see Snowblind (disambiguation).
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. ... | Photokeratitis | c0155078 | 293 | wikipedia | https://en.wikipedia.org/wiki/Photokeratitis | 2021-01-18T18:30:22 | {"umls": ["C0155078"], "wikidata": ["Q829876"]} |
Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, man... | Parana hard skin syndrome | c1850079 | 294 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2812 | 2021-01-23T18:30:46 | {"gard": ["2598"], "mesh": ["C564905"], "omim": ["260530"], "umls": ["C1850079"], "icd-10": ["L91.8"], "synonyms": ["Hard skin syndrome, Parana type"]} |
Dysembryoplastic neuroepithelial tumour
DNET
SpecialtyNeurosurgery
Dysembryoplastic neuroepithelial tumour (DNT, DNET) is a type of brain tumor. Most commonly found in the temporal lobe, DNTs have been classified as benign tumours.[1] These are glioneuronal tumours comprising both glial and neuron cells and ... | Dysembryoplastic neuroepithelial tumour | c1266177 | 295 | wikipedia | https://en.wikipedia.org/wiki/Dysembryoplastic_neuroepithelial_tumour | 2021-01-18T19:08:44 | {"gard": ["10640"], "umls": ["C1266177"], "orphanet": ["251946"], "wikidata": ["Q824595"]} |
Thyroid dyshormonogenesis
Other namesDyshormogenetic goiter
Thyroid dyshormonogenesis is inherited in an autosomal recessive manner
SpecialtyEndocrinology
Thyroid dyshormonogenesis is a rare condition due to genetic defects in the synthesis of thyroid hormones.[1][2]
Patients develop hypothyroidism wi... | Thyroid dyshormonogenesis | c1848805 | 296 | wikipedia | https://en.wikipedia.org/wiki/Thyroid_dyshormonogenesis | 2021-01-18T19:00:24 | {"mesh": ["C564766"], "umls": ["C1848805"], "icd-9": ["246.1"], "icd-10": ["E07.1"], "orphanet": ["95716"], "wikidata": ["Q7799748"]} |
Mounier-Kuhn syndrome is a lung disorder that causes the respiratory tract to dilate or enlarge. People with this condition develop frequent respiratory tract infections and recurrent cough. The condition can be diagnosed by lung function tests, bronchoscopy, and a chest CT scan. The cause of Mounier-Kuhn syndrom... | Mounier-Kuhn syndrome | c0040587 | 297 | gard | https://rarediseases.info.nih.gov/diseases/3793/mounier-kuhn-syndrome | 2021-01-18T17:58:58 | {"mesh": ["D014137"], "omim": ["275300"], "orphanet": ["3347"], "synonyms": ["Congenital tracheobronchomegaly", "Mounier Kuhn syndrome"]} |
Transient myeloproliferative syndrome is a leukemoid reaction that occurs in some newborn infants with Down syndrome and rarely in phenotypically normal infants (Seibel et al., 1984). In 9 Down syndrome patients with transient myeloproliferative syndrome, Niikawa et al. (1991) found that the mode of inheritance of ce... | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | c1834582 | 298 | omim | https://www.omim.org/entry/159595 | 2019-09-22T16:37:48 | {"doid": ["0060888"], "mesh": ["C563551"], "omim": ["159595"], "orphanet": ["420611"], "synonyms": ["Alternative titles", "MST", "LEUKEMIA, TRANSIENT", "TRANSIENT ABNORMAL MYELOPOIESIS"]} |
For the abnormal fear of women, see Gynophobia.
Gymnophobia
SpecialtyPsychiatry
SymptomsFear of nudity
Gymnophobia is a fear (phobia) of nudity.
## Contents
* 1 Symptoms
* 2 Terminology
* 3 See also
* 4 References
## Symptoms[edit]
Gymnophobics experience anxiety from nudity, even if they realiz... | Gymnophobia | None | 299 | wikipedia | https://en.wikipedia.org/wiki/Gymnophobia | 2021-01-18T18:43:53 | {"wikidata": ["Q1010522"]} |
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