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Tin poisoning
Tin
SpecialtyToxicology
Tin poisoning refers to the toxic effects of tin and its compounds. Cases of poisoning from tin metal, its oxides, and its salts are "almost unknown"; on the other hand, certain organotin compounds are almost as toxic as cyanide.[1]
## Contents
* 1 Biology and to... | Tin poisoning | None | 3,300 | wikipedia | https://en.wikipedia.org/wiki/Tin_poisoning | 2021-01-18T18:32:13 | {"icd-9": ["985.8"], "icd-10": ["T56.6"], "wikidata": ["Q7807844"]} |
Embryonal carcinoma is a type of testicular cancer, which is cancer that starts in the testicles, the male reproductive glands located in the scrotum. It most often develops in young and middle-aged men. It tends to grow rapidly and spread outside the testicle. Embryonal carcinomas are classified as nonseminoma g... | Embryonal carcinoma | c0206659 | 3,301 | gard | https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma | 2021-01-18T18:00:43 | {"mesh": ["D018236"], "umls": ["C0206659"], "orphanet": ["180226"], "synonyms": []} |
A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue,... | Hereditary mucoepithelial dysplasia | c1274795 | 3,302 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1839 | 2021-01-23T17:53:02 | {"gard": ["5427"], "mesh": ["C536476"], "omim": ["158310"], "umls": ["C1274795"], "synonyms": ["Urban-Schosser-Spohn syndrome"]} |
A rare, acquired peripheral neuropathy disease characterized by chronic neuropathic pain involving the sensory territory of the pudendal nerve (from clitoris to anus or from penis to anus), aggravated by sitting and for which no organic cause can be found by imaging studies or laboratory tests. It is often associated... | Pudendal neuralgia | c1997249 | 3,303 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=60039 | 2021-01-23T18:00:48 | {"gard": ["10713"], "mesh": ["D060545"], "umls": ["C1997249", "C3178970"], "icd-10": ["G57.8"], "synonyms": ["Alcock syndrome", "Pudendal algia", "Pudendal nerve entrapment syndrome", "Pudendal neuralgia by pudendal nerve entrapment", "Pudendalgia"]} |
Pneumoconiosis caused by inhalation of silica, quartz or slate particles
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: "Silicosis" – news · newspapers · books · scho... | Silicosis | c0037116 | 3,304 | wikipedia | https://en.wikipedia.org/wiki/Silicosis | 2021-01-18T18:57:46 | {"gard": ["7647"], "mesh": ["D012829"], "umls": ["C0037116"], "wikidata": ["Q653318"]} |
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also f... | Oculodentodigital dysplasia | c0812437 | 3,305 | medlineplus | https://medlineplus.gov/genetics/condition/oculodentodigital-dysplasia/ | 2021-01-27T08:25:19 | {"gard": ["7239"], "mesh": ["C563160"], "omim": ["164200"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that acromicric dysplasia (ACMICD) is caused by heterozygous mutation in exon 41 or 42 of the FBN1 gene (134797) on chromosome 15q21.
Description
Acromicric dysplasia is an autosomal dominant disorder characterized by severe short stature, short hands an... | ACROMICRIC DYSPLASIA | c0265287 | 3,306 | omim | https://www.omim.org/entry/102370 | 2019-09-22T16:45:25 | {"doid": ["0111243"], "mesh": ["C535662"], "omim": ["102370"], "orphanet": ["969"]} |
Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.
## Epidemiology
The syndrome has been described in less than 10 families... | Endosteal hyperostosis, Worth type | c0432273 | 3,307 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2790 | 2021-01-23T18:47:14 | {"gard": ["390"], "mesh": ["C536748"], "omim": ["144750"], "umls": ["C0432273", "C2931308"], "icd-10": ["Q78.2"], "synonyms": ["Autosomal dominant osteosclerosis, Worth type", "Worth syndrome"]} |
Contagious equine metritis (CEM) is a type of metritis (uterine inflammation) in horses that is caused by a sexually transmitted infection. It is thus an equine venereal disease of the genital tract of horses, brought on by the Taylorella equigenitalis bacteria and spread through sexual contact. The disease was first... | Contagious equine metritis | c0276037 | 3,308 | wikipedia | https://en.wikipedia.org/wiki/Contagious_equine_metritis | 2021-01-18T18:29:19 | {"wikidata": ["Q473340"]} |
GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
Signs and symptoms of the AB variant become apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows ... | GM2-gangliosidosis, AB variant | c0268275 | 3,309 | medlineplus | https://medlineplus.gov/genetics/condition/gm2-gangliosidosis-ab-variant/ | 2021-01-27T08:25:19 | {"gard": ["2522"], "mesh": ["D049290"], "omim": ["272750"], "synonyms": []} |
Atypical pulmonary carcinoid tumour
Atypical pulmonary carcinoid. H&E stain.
SpecialtyOncology
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Atypical pulmonary carcinoid tumo... | Atypical pulmonary carcinoid tumour | c4072942 | 3,310 | wikipedia | https://en.wikipedia.org/wiki/Atypical_pulmonary_carcinoid_tumour | 2021-01-18T18:52:10 | {"umls": ["C4072942", "C1708766"], "wikidata": ["Q3658375"]} |
Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the bo... | Familial acute myeloid leukemia with mutated CEBPA | c0023467 | 3,311 | medlineplus | https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/ | 2021-01-27T08:25:33 | {"mesh": ["D015470"], "omim": ["601626"], "synonyms": []} |
Collagenous gastritis (CG) is a rare condition that primarily affects the digestive system. People with CG have increased buildup of collagen in the subepithelial layer of the stomach. This condition typically affects children and young adults up to 22 years, or older adults over 35 years of age. Signs and symptoms a... | Collagenous gastritis | c4040043 | 3,312 | gard | https://rarediseases.info.nih.gov/diseases/10961/collagenous-gastritis | 2021-01-18T18:01:13 | {"synonyms": []} |
Inflammatory myofibroblastic tumour
Other namesInflammatory fibrosarcoma[1]
Micrograph of an inflammatory myofibroblastic tumour of the kidney. Kidney biopsy. H&E stain.
Inflammatory myofibroblastic tumour is a lesional pattern of inflammatory pseudotumour, as plasma cell granuloma.[2] It is abbreviated IMT.... | Inflammatory myofibroblastic tumour | c0334121 | 3,313 | wikipedia | https://en.wikipedia.org/wiki/Inflammatory_myofibroblastic_tumour | 2021-01-18T18:35:31 | {"gard": ["7146"], "mesh": ["D006104"], "umls": ["C0334121"], "orphanet": ["178342"], "wikidata": ["Q6030100"]} |
A number sign (#) is used with this entry because X-linked thrombocytopenia with or without dyserythropoietic anemia (XLTDA) is caused by mutation in the GATA1 gene (305371) on chromosome Xp11.
Description
XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platele... | THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA | c1845837 | 3,314 | omim | https://www.omim.org/entry/300367 | 2019-09-22T16:20:24 | {"doid": ["1588"], "mesh": ["C564525"], "omim": ["300367"], "orphanet": ["67044"], "genereviews": ["NBK1364"]} |
Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected in... | Factor XIII deficiency | c0015530 | 3,315 | gard | https://rarediseases.info.nih.gov/diseases/10766/factor-xiii-deficiency | 2021-01-18T18:00:37 | {"mesh": ["D005177"], "omim": ["613225", "613235"], "orphanet": ["331"], "synonyms": ["Congenital Factor XIII deficiency", "Fibrin stabilizing factor deficiency"]} |
Stranger anxiety is a form of distress that children feel when exposed to strangers.
Crying is a common sign of anxiety in children
Stranger anxiety is a form of distress that children experience when exposed to strangers. Stranger anxiety and stranger fear are two interchangeable terms. Stranger anxiety is a typic... | Stranger anxiety | None | 3,316 | wikipedia | https://en.wikipedia.org/wiki/Stranger_anxiety | 2021-01-18T18:30:43 | {"wikidata": ["Q511454"]} |
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. (March 2012) (Learn how and when to remove this template message)
Smooth muscle tumor of unce... | Smooth muscle tumor of uncertain malignant potential | c0206658 | 3,317 | wikipedia | https://en.wikipedia.org/wiki/Smooth_muscle_tumor_of_uncertain_malignant_potential | 2021-01-18T19:08:17 | {"mesh": ["D018235"], "wikidata": ["Q7394858"]} |
A disorder that is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (tha... | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | c2936858 | 3,318 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90794 | 2021-01-23T17:39:37 | {"gard": ["12665"], "mesh": ["C535979"], "omim": ["201910"], "umls": ["C2936858"], "icd-10": ["E25.0"], "synonyms": ["Classic 21-OHD CAH"]} |
Rain scald (also known as dermatophilosis, tufailosis, rain rot or streptothricosis[1]) is a dermatological disease affecting cattle and horses. Once in the skin, the bacterium Dermatophilus congolensis causes inflammation of the skin as well as the appearance of scabs and lesions.
## Contents
* 1 Symptoms
* 2 ... | Rain scald | c0275572 | 3,319 | wikipedia | https://en.wikipedia.org/wiki/Rain_scald | 2021-01-18T18:39:31 | {"umls": ["C0275572"], "wikidata": ["Q4564484"]} |
For a phenotypic description and a discussion of genetic heterogeneity of noninsulin-dependent diabetes mellitus (NIDDM), see 125853.
Mapping
Ghosh et al. (1999) conducted a genome scan at an average resolution of 10 cM for type II diabetes (125853) susceptibility genes in 716 affected sib pairs from 477 Finnish fa... | DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3 | c1863594 | 3,320 | omim | https://www.omim.org/entry/603694 | 2019-09-22T16:12:43 | {"mesh": ["C566342"], "omim": ["603694"], "synonyms": ["Alternative titles", "NIDDM3", "NONINSULIN-DEPENDENT DIABETES MELLITUS 3"]} |
Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.
## Etiology
These forms of beta-thalassemia are not related to defects in the beta-globin gene cluster but to mutations either in the gene encoding the transcription factor TFIIH (beta-thal... | Beta-thalassemia with other manifestations | None | 3,321 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231386 | 2021-01-23T18:57:07 | {"icd-10": ["D58.2"]} |
Diffuse large B-cell lymphoma (DLBCL), a form of non-Hodgkin lymphoma, is the most common blood cancer. Lymphomas occur when cells of the immune system, known as B lymphocytes, grow and multiply uncontrollably. DLBCL occurs mostly in adults and is a fast-growing (aggressive) lymphoma. It can start in the lymph nodes ... | Diffuse Large B-Cell Lymphoma | c0079744 | 3,322 | gard | https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-b-cell-lymphoma | 2021-01-18T18:00:52 | {"mesh": ["D016403"], "umls": ["C0079744"], "orphanet": ["544"], "synonyms": ["DLBCL"]} |
Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corn... | Isolated distichiasis | c0423848 | 3,323 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99177 | 2021-01-23T17:24:16 | {"omim": ["126300"], "umls": ["C0423848"], "icd-10": ["Q10.3"]} |
Luzzatto et al. (1979) concluded that an X-chromosomal gene affects growth of hemopoietic cells. The conclusion was based on study of a Nigerian family segregating for a G6PD variant called Ilesha. In heterozygous females one or the other allele was almost exclusively expressed. The data were consistent with random i... | HEMOPOIETIC PROLIFERATION | c1844026 | 3,324 | omim | https://www.omim.org/entry/306930 | 2019-09-22T16:18:14 | {"omim": ["306930"]} |
A number sign (#) is used with this entry because of evidence that MASP2 deficiency is caused by homozygous mutation in the MASP2 gene (605102) on chromosome 1p36.
Description
MASP2 deficiency, classically defined as MASP2 protein level of less than 100 ng/ml, occurs in about 4% of Caucasians and up to 18% of some ... | MASP2 DEFICIENCY | c3151085 | 3,325 | omim | https://www.omim.org/entry/613791 | 2019-09-22T15:57:31 | {"mesh": ["C565360"], "omim": ["613791"], "orphanet": ["331187"], "synonyms": ["Alternative titles", "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2"]} |
A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected vi... | Morning glory disc anomaly | c0549307 | 3,326 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35737 | 2021-01-23T18:57:45 | {"omim": ["120430"], "umls": ["C0549307"], "icd-10": ["Q14.2"], "synonyms": ["Ectasic coloboma", "Morning glory syndrome"]} |
Idiopathic CD4 positive T-lymphocytopenia (ICL) is a rare disorder of the immune system. People with ICL have low levels of a type of white blood cell, called a CD4+ T cell. These low levels can not be explained by other causes of immunodeficiency, including HIV infection. T cells have many jobs in our immune system,... | Idiopathic CD4 positive T-lymphocytopenia | c3809768 | 3,327 | gard | https://rarediseases.info.nih.gov/diseases/12375/idiopathic-cd4-positive-t-lymphocytopenia | 2021-01-18T17:59:50 | {"omim": ["615518"], "orphanet": ["228000"], "synonyms": ["IMMUNODEFICIENCY 13", "IMD13", "ICL", "Idiopathic CD4 lymphocytopenia", "IDIOPATHIC CD4 LYMPHOPENIA"]} |
A number sign (#) is used with this entry because of evidence that osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is caused by homozygous mutation in the CHST11 gene (610128) on chromosome 12q23. One such family has been reported.
Description
Osteochondrodysplasia, brachydactyly, and... | OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS | None | 3,328 | omim | https://www.omim.org/entry/618167 | 2019-09-22T15:43:18 | {"omim": ["618167"]} |
A number sign (#) is used with this entry because of evidence that open angle glaucoma-1F (GLC1F) is caused by heterozygous mutation in the ASB10 gene (615054) on chromosome 7q36.
Clinical Features
Wirtz et al. (1999) reported a family in which 10 members in 4 generations showed evidence of primary open angle glauc... | GLAUCOMA 1, OPEN ANGLE, F | c1863926 | 3,329 | omim | https://www.omim.org/entry/603383 | 2019-09-22T16:13:05 | {"mesh": ["C566383"], "omim": ["603383"], "synonyms": ["Alternative titles", "GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET"]} |
Collapse or closure of a lung resulting in reduced or absent gas exchange
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: "Atelectasis" – news · newspapers · books · s... | Atelectasis | c0004144 | 3,330 | wikipedia | https://en.wikipedia.org/wiki/Atelectasis | 2021-01-18T18:42:42 | {"mesh": ["D001261"], "umls": ["C0004144"], "icd-9": ["518.0"], "icd-10": ["J98.1"], "wikidata": ["Q754031"]} |
A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
## Epidemiology
The incidence and prevalence are u... | Autosomal recessive spondylocostal dysostosis | c0265343 | 3,331 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2311 | 2021-01-23T18:34:10 | {"gard": ["6798"], "mesh": ["C537565", "C535781"], "omim": ["277300", "608681", "609813", "613686", "616566"], "umls": ["C0265343", "C2931020"], "icd-10": ["Q76.8"], "synonyms": ["Jarcho-Levin syndrome"]} |
Posterior urethral valve
Vesiculæ seminales and ampullæ of ductus deferentes, seen from the front. Posterior urethral valves are at the dorsal aspect (back) of the prostatic urethra.
SpecialtyUrology
Posterior urethral valve (PUV) disorder is an obstructive developmental anomaly in the urethra and genitourin... | Posterior urethral valve | c0238506 | 3,332 | wikipedia | https://en.wikipedia.org/wiki/Posterior_urethral_valve | 2021-01-18T18:39:56 | {"gard": ["7439"], "umls": ["C0238506", "C0542520"], "orphanet": ["93110"], "wikidata": ["Q2500550"]} |
A number sign (#) is used with this entry because primary pigmented nodular adrenocortical disease-4 (PPNAD4) is caused by a duplication on chromosome 19p13 that includes the PRKACA gene (601639). A recurrent somatic mutation in the PRKACA gene has been found in up to 70% of cortisol-secreting adrenocortical aden... | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 | c4014425 | 3,333 | omim | https://www.omim.org/entry/615830 | 2019-09-22T15:50:52 | {"doid": ["0060280"], "omim": ["615830"], "orphanet": ["189439"], "synonyms": ["CUSHING SYNDROME, ADRENAL, DUE TO PPNAD4", "Primary pigmented nodular adrenal dysplasia", "Alternative titles", "CHROMOSOME 19p13 DUPLICATION SYNDROME", "PPNAD"]} |
## Description
Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and s... | PSEUDOHYPOALDOSTERONISM, TYPE IIA | c1449844 | 3,334 | omim | https://www.omim.org/entry/145260 | 2019-09-22T16:39:53 | {"mesh": ["D011546"], "omim": ["145260"], "orphanet": ["757", "88938"], "synonyms": ["Alternative titles", "HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL", "HYPERTENSIVE HYPERKALEMIA, FAMILIAL", "GORDON HYPERKALEMIA-HYPERTENSION SYNDROME"], "genereviews": ["NBK65707"]} |
## Description
Rock et al. (2008) provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; 271630) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characte... | BRACHYOLMIA TYPE 1, HOBAEK TYPE | c1849055 | 3,335 | omim | https://www.omim.org/entry/271530 | 2019-09-22T16:22:13 | {"doid": ["0050690"], "mesh": ["C537099"], "omim": ["271530"], "orphanet": ["93301", "448242"], "synonyms": ["Alternative titles", "BRACHYOLMIA, RECESSIVE TYPE OF HOBAEK", "SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA"]} |
Healthy Samoyed dog
Samoyed hereditary glomerulopathy (SHG) is a hereditary, X-linked, noninflammatory disease of the renal glomeruli, occurring in the Samoyed breed of dog. The disease has been shown to be a model for hereditary nephritis (HN) in humans[1] in that the disease resembles that of the human disease. Be... | Samoyed hereditary glomerulopathy | None | 3,336 | wikipedia | https://en.wikipedia.org/wiki/Samoyed_hereditary_glomerulopathy | 2021-01-18T19:01:30 | {"wikidata": ["Q7410058"]} |
A number sign (#) is used with this entry because of evidence that polycystic liver disease-3 with or without kidney cysts (PCLD3) is caused by heterozygous mutation in the ALG8 gene (608103) on chromosome 11q14.
Description
PCLD3 is an autosomal dominant disorder characterized by the development of multiple liver ... | POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS | c4693472 | 3,337 | omim | https://www.omim.org/entry/617874 | 2019-09-22T15:44:36 | {"omim": ["617874"]} |
Condition characterized by an abnormal bone growth in the middle ear
Otosclerosis
Other namesOtospongiosis
Chain of ossicles and their ligaments. (Stapes visible near center right.)
SpecialtyOtorhinolaryngology
Otosclerosis is a condition of the inner ear where one or more foci of irregularly laid spongy ... | Otosclerosis | c0029899 | 3,338 | wikipedia | https://en.wikipedia.org/wiki/Otosclerosis | 2021-01-18T18:30:33 | {"mesh": ["D010040"], "umls": ["C0029696", "C0029899"], "orphanet": ["2794"], "wikidata": ["Q756610"]} |
"YSS" redirects here. For other uses, see YSS (disambiguation).
Young–Simpson syndrome
Other namesHypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson syndrome
This condition is inherited via autosomal dominant manner
Young–Simpson syndrom... | Young–Simpson syndrome | c1863557 | 3,339 | wikipedia | https://en.wikipedia.org/wiki/Young%E2%80%93Simpson_syndrome | 2021-01-18T19:07:04 | {"mesh": ["C536717"], "umls": ["C1863557"], "orphanet": ["3047"], "wikidata": ["Q8058422"]} |
Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms... | Metaphyseal chondrodysplasia Schmid type | c0265289 | 3,340 | gard | https://rarediseases.info.nih.gov/diseases/7029/metaphyseal-chondrodysplasia-schmid-type | 2021-01-18T17:59:07 | {"mesh": ["C537352"], "omim": ["156500"], "umls": ["C0265289"], "orphanet": ["174"], "synonyms": ["MCDS"]} |
Human disease
Burning mouth syndrome
Other namesglossodynia,[1] orodynia,[2] oral dysaesthesia,[3] glossopyrosis,[3] stomatodynia,[1] burning tongue,[4] stomatopyrosis,[3] sore tongue,[3] burning tongue syndrome,[5] burning mouth,[3] or sore mouth[6]
SpecialtyOral medicine
Burning mouth syndrome (BMS) is a ... | Burning mouth syndrome | c2930806 | 3,341 | wikipedia | https://en.wikipedia.org/wiki/Burning_mouth_syndrome | 2021-01-18T18:33:17 | {"gard": ["5974"], "mesh": ["C531639", "D002054"], "umls": ["C2930806"], "icd-9": ["529.6"], "icd-10": ["K14.6"], "orphanet": ["353253"], "wikidata": ["Q230047"]} |
Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.
There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency.
People w... | Lactate dehydrogenase deficiency | c2931743 | 3,342 | medlineplus | https://medlineplus.gov/genetics/condition/lactate-dehydrogenase-deficiency/ | 2021-01-27T08:25:27 | {"gard": ["3160", "3161", "3159"], "mesh": ["C538133"], "omim": ["612933", "614128"], "synonyms": []} |
X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typicall... | X-linked myopathy with postural muscle atrophy | c2678055 | 3,343 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178461 | 2021-01-23T19:11:11 | {"mesh": ["C567480"], "omim": ["300696"], "umls": ["C2678055"], "icd-10": ["G71.0"], "synonyms": ["XMPMA"]} |
Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms... | Dermatitis herpetiformis | c0011608 | 3,344 | gard | https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis | 2021-01-18T18:00:55 | {"mesh": ["D003874"], "omim": ["601230"], "umls": ["C0011608"], "orphanet": ["1656"], "synonyms": ["Duhring Brocq disease", "Brocq-Duhring disease ", "Duhring's disease", "DH", "Duhring-Brocq disease"]} |
A number sign (#) is used with this entry because of evidence that familial hyperaldosteronism type III (HALD3) is caused by heterozygous mutation in the KCNJ5 gene (600734) on chromosome 11q24.
For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see HALD1 (... | HYPERALDOSTERONISM, FAMILIAL, TYPE III | c3150933 | 3,345 | omim | https://www.omim.org/entry/613677 | 2019-09-22T15:57:54 | {"doid": ["446"], "omim": ["613677"], "orphanet": ["251274"], "synonyms": ["FH-III", "Alternative titles", "Familial hyperaldosteronism type 3", "FH III", "FH3"]} |
A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
## Epidemiology
The exact prevalence is unknown. More than 100 cases have been described in the literature to date, with most of the patients being reporte... | Langer mesomelic dysplasia | c0432230 | 3,346 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2632 | 2021-01-23T18:19:50 | {"gard": ["3553"], "mesh": ["C537267"], "omim": ["249700"], "umls": ["C0432230"], "icd-10": ["Q87.1"], "synonyms": ["Mesomelic dwarfism, Langer type"]} |
## Description
Human herpesvirus-8 (HHV-8) is the etiologic agent of Kaposi sarcoma, primary effusion lymphoma, and some forms of multicentric Castleman disease (Pedergnana et al., 2012). See 148000 for general phenotypic information on these diseases, as well as information on HHV-8-associated pathogenesis.
Mappi... | HUMAN HERPESVIRUS 8, SUSCEPTIBILITY TO | c3553840 | 3,347 | omim | https://www.omim.org/entry/614836 | 2019-09-22T15:54:05 | {"omim": ["614836"], "synonyms": ["Alternative titles", "HHV-8, SUSCEPTIBILITY TO"]} |
A number sign (#) is used with this entry because of evidence that syndromic microphthalmia-3 (MCOPS3) is caused by heterozygous mutation in the SOX2 gene (184429) on chromosome 3q26.
Description
Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects ... | MICROPHTHALMIA, SYNDROMIC 3 | c1859773 | 3,348 | omim | https://www.omim.org/entry/206900 | 2019-09-22T16:30:57 | {"doid": ["10629"], "mesh": ["C565948"], "omim": ["206900"], "orphanet": ["77298"], "synonyms": ["Alternative titles", "MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME", "ANOPHTHALMIA, CLINICAL, WITH ASSOCIATED ANOMALIES", "ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME", "AEG SYNDROME"], "genereviews": ["NBK1378", "NBK1300"]... |
For background information on susceptibility and resistance to Mycobacterium tuberculosis, see 607948.
Description
The tuberculin skin test (TST), or Mantoux test, measures induration of the skin after intradermal inoculation of M. tuberculosis purified protein derivative and thereby detects M. tuberculosis-infecte... | TUBERCULIN SKIN TEST REACTIVITY QUANTITATIVE TRAIT LOCUS | c3150893 | 3,349 | omim | https://www.omim.org/entry/613637 | 2019-09-22T15:58:03 | {"omim": ["613637"], "synonyms": ["Alternative titles", "TST REACTIVITY QUANTITATIVE TRAIT LOCUS", "TST2"]} |
Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.
## Epidemiology
Prevalence and annual incidence of OM are not known. Estimates are difficult to determine because of low recognition levels of this form... | Overlap myositis | None | 3,350 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206572 | 2021-01-23T18:11:33 | {"synonyms": ["Adult-onset overlap myositis", "Non-specific myositis"]} |
A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.
## Epidemiology
At least 3 ped... | Autosomal dominant vitreoretinochoroidopathy | c3888099 | 3,351 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3086 | 2021-01-23T18:11:32 | {"gard": ["5507"], "mesh": ["C536352"], "omim": ["193220"], "umls": ["C3888099"], "icd-10": ["H35.5"], "synonyms": ["ADVIRC"]} |
Schamberg's disease
Rust-colored spots typical of Schamberg disease on the lower left leg and left foot of a 26-year-old Caucasian male.
SpecialtyDermatology
Schamberg's disease, (also known as "progressive pigmentary dermatosis of Schamberg",[1] "purpura pigmentosa progressiva" (PPP),[1] and "Schamberg's pu... | Schamberg disease | c0036305 | 3,352 | wikipedia | https://en.wikipedia.org/wiki/Schamberg_disease | 2021-01-18T18:37:26 | {"mesh": ["D010859"], "icd-9": ["709.09"], "icd-10": ["L81.7"], "wikidata": ["Q3281296"]} |
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: "Hay fever in Japan" – news · newspapers · books · scholar · JSTOR (June 2016) (Learn how and when to remove this te... | Hay fever in Japan | None | 3,353 | wikipedia | https://en.wikipedia.org/wiki/Hay_fever_in_Japan | 2021-01-18T18:33:11 | {"wikidata": ["Q15662673"]} |
A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar sy... | Autoimmune encephalopathy with parasomnia and obstructive sleep apnea | c4707562 | 3,354 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420789 | 2021-01-23T17:29:36 | {"icd-10": ["G04.8"], "synonyms": ["Anti-IgLON5 disease", "Anti-IgLON5 syndrome"]} |
A number sign (#) is used with this entry because Van Maldergem syndrome-2 (VMLDS2) is caused by homozygous or compound heterozygous mutation in the FAT4 gene (612411) on chromosome 4q28.
Biallelic mutation in the FAT4 gene can also cause Hennekam lymphangiectasia-lymphedema syndrome-2 (HKLLS2; 616006), a distinct d... | VAN MALDERGEM SYNDROME 2 | c1832390 | 3,355 | omim | https://www.omim.org/entry/615546 | 2019-09-22T15:51:50 | {"doid": ["0080586"], "mesh": ["C536530"], "omim": ["615546"], "orphanet": ["314679"]} |
Beighton (1981) reported a kindred in which 20 members in at least 3 generations had opalescent teeth, blue sclerae, wormian bones, and normal height. In the 6 affected individuals who had skeletal surveys, moderate generalized osteoporosis was noted; the older individuals had mild flattening and biconcavity of the v... | OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES | c0023931 | 3,356 | omim | https://www.omim.org/entry/166230 | 2019-09-22T16:37:01 | {"doid": ["0110335"], "mesh": ["D010013"], "omim": ["166230", "166200"], "orphanet": ["216796", "666"], "synonyms": ["Adair-Dighton syndrome", "Mild osteogenesis imperfecta", "Non-deforming osteogenesis imperfecta", "OI type 1", "Van der Hoeve syndrome"]} |
Protein S deficiency
Protein S structure
SpecialtyHematology
SymptomsPurpura fulminans[1]
CausesVitamin K deficiency[1]
Diagnostic methodCoagulation test[1]
TreatmentHeparin, Warfarin[2]
Protein S deficiency is a disorder associated with increased risk of venous thrombosis.[1] Protein S, a vitamin K-... | Protein S deficiency | c0242666 | 3,357 | wikipedia | https://en.wikipedia.org/wiki/Protein_S_deficiency | 2021-01-18T18:55:35 | {"gard": ["4524"], "mesh": ["D018455"], "umls": ["C0242666"], "icd-9": ["289.81"], "wikidata": ["Q3043153"]} |
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.
## Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births and the severe congenital form might represent 10-20... | Severe congenital nemaline myopathy | c3711389 | 3,358 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171430 | 2021-01-23T17:11:17 | {"gard": ["12821"], "mesh": ["C579880"], "omim": ["161800", "256030", "615348", "615731", "616165"], "icd-10": ["G71.2"]} |
## Summary
### Clinical characteristics.
Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation.
* Leigh syndrome (or ... | Mitochondrial DNA-Associated Leigh Syndrome and NARP | None | 3,359 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1173/ | 2021-01-18T21:11:35 | {"synonyms": ["mtDNA-Associated Leigh Syndrome and NARP"]} |
Reis-Bücklers corneal dystrophy
Other namesCorneal dystrophy of Bowman layer, type I
Reis-Bücklers corneal dystrophy. Reticular opacity in the superficial cornea
SpecialtyOphthalmology
Reis-Bücklers corneal dystrophy, is a rare, corneal dystrophy of unknown cause, in which the Bowman's layer of the cornea ... | Reis–Bucklers corneal dystrophy | c0339278 | 3,360 | wikipedia | https://en.wikipedia.org/wiki/Reis%E2%80%93Bucklers_corneal_dystrophy | 2021-01-18T18:58:05 | {"gard": ["9276"], "mesh": ["C535476"], "umls": ["C0339278"], "orphanet": ["98961"], "wikidata": ["Q4162390"]} |
A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well... | Adenocarcinoma of the anal canal | c1332259 | 3,361 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424016 | 2021-01-23T18:26:46 | {"icd-10": ["C21.1"]} |
GNAO1 encephalopathy is a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involunt... | GNAO1 encephalopathy | c3809606 | 3,362 | gard | https://rarediseases.info.nih.gov/diseases/13378/gnao1-encephalopathy | 2021-01-18T18:00:14 | {"omim": ["615473"], "synonyms": ["Early infantile epileptic encephalopathy-17"]} |
Acyl-CoA oxidase deficiency
Other namesACOX1 deficiency
Acyl CoA oxidase enzyme
SpecialtyMedical genetics
Acyl-CoA oxidase deficiency is a rare disorder that leads to significant damage and deterioration of nervous system functions (neurodegeneration).[1] It is caused by pathogenic variants in ACOX1, which... | Acyl-CoA oxidase deficiency | c1849678 | 3,363 | wikipedia | https://en.wikipedia.org/wiki/Acyl-CoA_oxidase_deficiency | 2021-01-18T18:43:28 | {"gard": ["4543"], "mesh": ["C536662"], "umls": ["C0342871"], "orphanet": ["2971"], "wikidata": ["Q18553481"]} |
Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate c... | Autosomal recessive spastic paraplegia type 53 | c3539494 | 3,364 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319199 | 2021-01-23T17:01:52 | {"omim": ["614898"], "icd-10": ["G11.4"], "synonyms": ["SPG53"]} |
Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but... | Andersen-Tawil syndrome | c1563715 | 3,365 | medlineplus | https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome/ | 2021-01-27T08:24:48 | {"gard": ["9453"], "mesh": ["D050030"], "omim": ["170390"], "synonyms": []} |
Haemophilia C
Other namesPlasma thromboplastin antecedent (PTA) deficiency, Rosenthal syndrome
Haemophilia C caused by deficiency in Factor XI[1]
SpecialtyHaematology
SymptomsOral bleeding[2]
CausesDeficiency of coagulation factor XI[1]
Diagnostic methodProthrombin time[1]
PreventionPhysical activity pr... | Haemophilia C | c0015523 | 3,366 | wikipedia | https://en.wikipedia.org/wiki/Haemophilia_C | 2021-01-18T18:34:17 | {"gard": ["9670"], "mesh": ["D005173"], "umls": ["C0015523"], "orphanet": ["329"], "wikidata": ["Q1393718"]} |
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features ... | Microcornea-myopic chorioretinal atrophy-telecanthus syndrome | c3809567 | 3,367 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369970 | 2021-01-23T17:26:38 | {"omim": ["615458"], "icd-10": ["Q15.8"], "synonyms": ["MMCAT syndrome"]} |
Ankle fracture
Other namesBroken ankle[1]
Fracture of both sides of the ankle with dislocation as seen on anteroposterior X-ray. (1) fibula, (2) tibia, (arrow) medial malleolus, (arrowhead) lateral malleolus
SpecialtyOrthopedics
SymptomsPain, swelling, bruising, inability to walk[1]
ComplicationsHigh ankle ... | Ankle fracture | c0435907 | 3,368 | wikipedia | https://en.wikipedia.org/wiki/Ankle_fracture | 2021-01-18T18:48:08 | {"mesh": ["D064386"], "wikidata": ["Q2314265"]} |
A number sign (#) is used with this entry because of evidence that Stargardt disease-1 (STGD1) is caused by homozygous or compound heterozygous mutation in the ABCA4 gene (601691) on chromosome 1p22.
Stargardt disease-3 (STGD3; 600110) is caused by mutation in the ELOVL4 gene (605512) on chromosome 6q14, and Sta... | STARGARDT DISEASE 1 | c0271093 | 3,369 | omim | https://www.omim.org/entry/248200 | 2019-09-22T16:25:43 | {"doid": ["0050817"], "mesh": ["C535804"], "omim": ["248200"], "icd-10": ["H35.53"], "orphanet": ["827"], "synonyms": ["Alternative titles", "STGD", "MACULAR DEGENERATION, JUVENILE", "MACULAR DYSTROPHY WITH FLECKS, TYPE 1"]} |
Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ... | Non-distal trisomy 10q | c2936831 | 3,370 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1695 | 2021-01-23T17:48:46 | {"mesh": ["C537804"], "umls": ["C2936831"], "icd-10": ["Q92.3"], "synonyms": ["Non-distal duplication 10q", "Non-telomeric trisomy 10q"]} |
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).
... | Generalized epilepsy with febrile seizures-plus | c3502809 | 3,371 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36387 | 2021-01-23T18:54:59 | {"mesh": ["C565808"], "omim": ["604233", "604403", "609800", "611277", "612279", "613060", "613828", "613863", "616172", "618482"], "umls": ["C3502809"], "icd-10": ["G40.3"], "synonyms": ["GEFS+", "Genetic epilepsy with febrile seizures-plus"]} |
Uniparental disomy
Play media
Animation of uniparental isodisomy
SpecialtyMedical genetics
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent.[1] UPD can be the result of heterodisomy, in whi... | Uniparental disomy | c0949628 | 3,372 | wikipedia | https://en.wikipedia.org/wiki/Uniparental_disomy | 2021-01-18T18:39:19 | {"mesh": ["D024182"], "icd-10": ["Q99.8"], "wikidata": ["Q1207929"]} |
Generalized trichoepithelioma
SpecialtyDermatology
Generalized trichoepitheliomas are characterized histologically by replacement of the hair follicles by trichoepithelioma-like epithelial proliferations associated with hyperplastic sebaceous glands.[1]:578
## See also[edit]
* Skin lesion
* List of c... | Generalized trichoepithelioma | None | 3,373 | wikipedia | https://en.wikipedia.org/wiki/Generalized_trichoepithelioma | 2021-01-18T18:33:06 | {"wikidata": ["Q5532517"]} |
A number sign (#) is used with this entry because of evidence that multiple genes are involved in the causation of systemic lupus erythematosus.
Description
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell sur... | SYSTEMIC LUPUS ERYTHEMATOSUS | c0024141 | 3,374 | omim | https://www.omim.org/entry/152700 | 2019-09-22T16:38:49 | {"doid": ["9074"], "mesh": ["D008180"], "omim": ["152700"], "icd-9": ["710.0"], "icd-10": ["M32.9", "M32"]} |
Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.
*[v]: View this template
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*[e]: Edit thi... | Isochromosomy Yq | None | 3,375 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98798 | 2021-01-23T17:27:53 | {"icd-10": ["Q98.6"]} |
## Summary
### Clinical characteristics.
Multiple endocrine neoplasia type 2 (MEN 2) includes the following phenotypes: MEN 2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN 2A), and MEN 2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC... | Multiple Endocrine Neoplasia Type 2 | c0025268 | 3,376 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1257/ | 2021-01-18T21:10:14 | {"mesh": ["D018813"], "synonyms": ["MEN 2", "MEN 2 Syndrome"]} |
Gram-negative folliculitis
SpecialtyDermatology
Gram-negative folliculitis occurs in patients who have had moderately inflammatory acne for long periods and have been treated with long-term antibiotics, mainly tetracyclines, a disease in which cultures of lesions usually reveals a species of Klebsiella, Escher... | Gram-negative folliculitis | c0406101 | 3,377 | wikipedia | https://en.wikipedia.org/wiki/Gram-negative_folliculitis | 2021-01-18T18:34:03 | {"icd-10": ["L08.8"], "wikidata": ["Q5593571"]} |
Verloes et al. (1997) suggested the existence of an autosomal dominant coloboma-obesity-hypogenitalism-mental retardation syndrome. (See the Biemond syndrome II (210350) for an autosomal recessive form.) Cavallacci (1937) reported a mother with bilateral noncolobomatous microphthalmia, unilateral cataract, atypic... | COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME | c1866256 | 3,378 | omim | https://www.omim.org/entry/601794 | 2019-09-22T16:14:18 | {"mesh": ["C566623"], "omim": ["601794"], "orphanet": ["363741"]} |
Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition can be caused by ... | Steatocystoma multiplex | c0259771 | 3,379 | gard | https://rarediseases.info.nih.gov/diseases/5003/steatocystoma-multiplex | 2021-01-18T17:57:31 | {"mesh": ["D062685"], "omim": ["184500"], "orphanet": ["841"], "synonyms": ["Multiple sebaceous cysts", "Sebocystomatosis", "Multiplex steatocystoma"]} |
Infantile convulsions and choreoathetosis
Other namesParoxysmal kinesigenic dyskinesia and infantile convulsions
Infantile convulsions and choreoathetosis is inherited via an autosomal dominant manner
Infantile convulsions and choreoathetosis (ICCA) syndrome is a neurological genetic disorder with an autosom... | Infantile convulsions and choreoathetosis | c1865926 | 3,380 | wikipedia | https://en.wikipedia.org/wiki/Infantile_convulsions_and_choreoathetosis | 2021-01-18T18:36:34 | {"gard": ["8553"], "mesh": ["C535522"], "umls": ["C1865926"], "orphanet": ["31709"], "wikidata": ["Q6029036"]} |
A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.
## Epidemiology
The birth prevalence of Noonan syndrome (NS) is estimated between 1:1000 to 1:2500.
... | Noonan syndrome | c0028326 | 3,381 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=648 | 2021-01-23T17:36:30 | {"gard": ["10955"], "mesh": ["D009634"], "omim": ["163950", "605275", "609942", "610733", "611553", "613224", "613706", "615355", "616559", "616564", "618499", "618624"], "umls": ["C0028326"], "icd-10": ["Q87.1"]} |
Adams–Nance syndrome
SpecialtyCardiology
Adams–Nance syndrome is a medical condition consisting of persistent tachycardia, paroxysmal hypertension and seizures. It is associated with hyperglycinuria, dominantly inherited microphthalmia and cataracts. It is thought to be caused by a disturbance in glycine metab... | Adams–Nance syndrome | None | 3,382 | wikipedia | https://en.wikipedia.org/wiki/Adams%E2%80%93Nance_syndrome | 2021-01-18T19:10:36 | {"wikidata": ["Q4680535"]} |
Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and ... | Spinocerebellar ataxia type 1 | c0752120 | 3,383 | medlineplus | https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-1/ | 2021-01-27T08:24:58 | {"gard": ["4071"], "mesh": ["D020754"], "omim": ["164400"], "synonyms": []} |
A number sign (#) is used with this entry because Smith-McCort dysplasia-2 (SMC2) is caused by homozygous or compound heterozygous mutation in the RAB33B gene (605950) on chromosome 4q31.
Description
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism wit... | SMITH-MCCORT DYSPLASIA 2 | c1846431 | 3,384 | omim | https://www.omim.org/entry/615222 | 2019-09-22T15:52:55 | {"doid": ["0060247"], "mesh": ["C564589"], "omim": ["615222"], "orphanet": ["178355"]} |
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two ad... | Esophageal atresia/tracheoesophageal fistula | c1861028 | 3,385 | medlineplus | https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/ | 2021-01-27T08:25:54 | {"gard": ["7792"], "mesh": ["C531835"], "omim": ["189960"], "synonyms": []} |
Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity.
## Epidemiology
Peritoneal mesothelioma accounts for 10 to 30% of all malignant mesotheliomas. The annual incidence is approximately 1/500,000 in France but reaches 1/200,000 in... | Malignant peritoneal mesothelioma | c0346109 | 3,386 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168811 | 2021-01-23T18:35:52 | {"umls": ["C0346109"], "icd-10": ["C45.1"], "synonyms": ["Diffuse malignant peritoneal mesothelioma", "Primary malignant peritoneal mesothelioma"]} |
## Description
In moyamoya disease, stenosis of the intracranial portion of the internal carotid artery leads to secondary establishment of intracranial compensatory anastomoses at different levels (leptomeninges, basal ganglia, and transdural) (summary by Sakurai et al., 2004).
For a general phenotypic descriptio... | MOYAMOYA DISEASE 3 | c0026654 | 3,387 | omim | https://www.omim.org/entry/608796 | 2019-09-22T16:07:08 | {"doid": ["13099"], "mesh": ["D009072"], "omim": ["608796"], "orphanet": ["2573"]} |
Hume fracture
SpecialtyOrthopedic
The Hume fracture is an injury of the elbow comprising a fracture of the olecranon with an associated anterior dislocation of the radial head which occurs in children. It was originally described as an undisplaced olecranon fracture,[1] but more recently includes displaced fra... | Hume fracture | None | 3,388 | wikipedia | https://en.wikipedia.org/wiki/Hume_fracture | 2021-01-18T18:54:36 | {"wikidata": ["Q5940646"]} |
Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic ago... | Hemoglobin C disease | c0019021 | 3,389 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2132 | 2021-01-23T18:19:18 | {"gard": ["2640"], "mesh": ["D006445"], "umls": ["C0019021"], "icd-10": ["D58.2"]} |
Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often oc... | Chromosome 5q deletion | c3888961 | 3,390 | gard | https://rarediseases.info.nih.gov/diseases/10840/chromosome-5q-deletion | 2021-01-18T18:01:21 | {"synonyms": ["Deletion 5q", "Monosomy 5q", "5q deletion", "5q monosomy", "Partial monosomy 5q"]} |
Fibromyalgia is a common condition characterized by long-lasting (chronic) pain affecting many areas of the body. The pain is associated with tenderness that occurs with touch or pressure on the muscles, joints, or skin. Some affected individuals also report numbness, tingling, or a burning sensation (paresthesia) in... | Fibromyalgia | c0016053 | 3,391 | medlineplus | https://medlineplus.gov/genetics/condition/fibromyalgia/ | 2021-01-27T08:24:55 | {"mesh": ["D005356"], "synonyms": []} |
A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities.
Leigh syndrome
Other namesjuvenile subacute necrotizing encephalomyelopathy, Leigh disease, infantile subacute necrotizing encephalomyelopathy, subacute necrotizing encephalomyelopathy (SNEM)[1]
Detection of nu... | Leigh syndrome | c0023264 | 3,392 | wikipedia | https://en.wikipedia.org/wiki/Leigh_syndrome | 2021-01-18T18:33:01 | {"gard": ["6877"], "mesh": ["D007888"], "umls": ["C0023264"], "orphanet": ["506"], "wikidata": ["Q1815019"]} |
A xanthochromistic and normal Argentine horned frog
Xanthochromism (also called xanthochroism or xanthism) is an unusually yellow pigmentation in an animal. It is often associated with the lack of usual red pigmentation and its replacement with yellow. The cause is usually genetic but may also be related to the ... | Xanthochromism | None | 3,393 | wikipedia | https://en.wikipedia.org/wiki/Xanthochromism | 2021-01-18T18:48:35 | {"wikidata": ["Q2597715"]} |
Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous ... | Scleroderma | c0011644 | 3,394 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=801 | 2021-01-23T17:22:00 | {"mesh": ["D012594"], "umls": ["C0011644", "C0852007"]} |
Nuclear factor-kappa B Essential Modulator (NEMO) deficiency syndrome is a rare type of primary immunodeficiency disease that has a highly variable set of symptoms and prognoses. It mainly affects the skin and immune system but has the potential to affect all parts of the body, including the lungs, urinary tract and ... | NEMO deficiency syndrome | c2931839 | 3,395 | wikipedia | https://en.wikipedia.org/wiki/NEMO_deficiency_syndrome | 2021-01-18T18:28:42 | {"gard": ["12915"], "mesh": ["C538399"], "umls": ["C2931839"], "wikidata": ["Q24885766"]} |
Worsening of neurologic symptoms in multiple sclerosis
Uhthoff's phenomenon
SpecialtyNeurology
Differential diagnosisdegeneration of condition of Multiple sclerosis
Uhthoff's phenomenon (also known as Uhthoff's syndrome, Uhthoff's sign, and Uhthoff's symptom) is the worsening of neurologic symptoms in multi... | Uhthoff's phenomenon | c1610071 | 3,396 | wikipedia | https://en.wikipedia.org/wiki/Uhthoff%27s_phenomenon | 2021-01-18T18:35:03 | {"umls": ["C1610071"], "wikidata": ["Q1066143"]} |
Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.
*[v]: View this template
*[t]: Discu... | Desmoplastic/nodular medulloblastoma | c0751291 | 3,397 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251863 | 2021-01-23T18:44:54 | {"mesh": ["D008527"], "omim": ["155255"], "umls": ["C0751291"], "icd-10": ["C71.6"]} |
A number sign (#) is used with this entry because of evidence that fibular hypoplasia and complex brachydactyly is caused by homozygous or compound heterozygous mutation in the GDF5 gene (601146) on chromosome 20q11.
Clinical Features
Fibular hypoplasia and complex brachydactyly was probably first described by Du P... | FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY | c1856738 | 3,398 | omim | https://www.omim.org/entry/228900 | 2019-09-22T16:27:51 | {"doid": ["0050790"], "mesh": ["C537931"], "omim": ["228900"], "orphanet": ["2639"], "synonyms": ["Alternative titles", "DU PAN SYNDROME"]} |
Anal stricture or anal stenosis is a narrowing of the anal canal.[1] It can be caused by a number of surgical procedures including: hemorrhoid removal and following anorectal wart treatment.[2]
## References[edit]
1. ^ Ehrenpreis, Eli D. (2003). Anal and rectal diseases explained. London: Remedica Group. pp. 53. ... | Anal stricture | c0156183 | 3,399 | wikipedia | https://en.wikipedia.org/wiki/Anal_stricture | 2021-01-18T18:37:54 | {"mesh": ["D000071056"], "umls": ["C0156183"], "wikidata": ["Q41091"]} |
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