text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
values | source_url stringlengths 33 155 | retrieved_date timestamp[s] | classification_map stringlengths 2 1.45k |
|---|---|---|---|---|---|---|---|
Neurofibromatosis type 3
Other namesNeurofibromatosis mixed type
SpecialtyNeurosurgery
Neurofibromatosis type 3 (also known as "Neurofibromatosis mixed type") resembles von Recklinghausen's disease, but also presents with cutaneous neurofibromas.[1]:552
## See also[edit]
* Neurofibromatosis
* Skin lesi... | Neurofibromatosis type 3 | c0917817 | 5,100 | wikipedia | https://en.wikipedia.org/wiki/Neurofibromatosis_type_3 | 2021-01-18T18:28:38 | {"mesh": ["D017253"], "wikidata": ["Q16929881"]} |
Pulp necrosis is a clinical diagnostic category indicating the death of cells and tissues in the pulp chamber of a tooth with or without bacterial invasion.[1] It is often the end result of many cases of dental trauma, caries and irreversible pulpitis.
In the initial stage of the infection, the pulp chamber is p... | Pulp necrosis | c0011407 | 5,101 | wikipedia | https://en.wikipedia.org/wiki/Pulp_necrosis | 2021-01-18T19:07:23 | {"mesh": ["D003790"], "umls": ["C0011407"], "wikidata": ["Q2507106"]} |
A number sign (#) is used with this entry because frontometaphyseal dysplasia-1 (FMD1) is caused by gain-of-function mutations in the gene encoding filamin A (FLNA; 300017) on chromosome Xq28.
Description
Frontometaphyseal dysplasia-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. Th... | FRONTOMETAPHYSEAL DYSPLASIA 1 | c0265293 | 5,102 | omim | https://www.omim.org/entry/305620 | 2019-09-22T16:18:19 | {"mesh": ["C538064"], "omim": ["305620"], "orphanet": ["1826"], "synonyms": ["Alternative titles", "FMD"], "genereviews": ["NBK1393"]} |
In the ts546 temperature-sensitive rodent cell line, the arrest of cell division, when the cells are grown at nonpermissive temperatures, is in metaphase (Ming, 1984). Baserga et al. (1982) showed that the complementing human gene is on chromosome 6.
*[v]: View this template
*[t]: Discuss this template
*[e... | TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546 | c1861243 | 5,103 | omim | https://www.omim.org/entry/187330 | 2019-09-22T16:32:48 | {"omim": ["187330"]} |
A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-13 (CLN13) is caused by homozygous or compound heterozygous mutation in the CTSF gene (603539) on chromosome 11q13.
Description
Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adu... | CEROID LIPOFUSCINOSIS, NEURONAL, 13 | c0022797 | 5,104 | omim | https://www.omim.org/entry/615362 | 2019-09-22T15:52:28 | {"doid": ["0110727"], "mesh": ["D009472"], "omim": ["615362"], "orphanet": ["352709", "79262"], "synonyms": ["Alternative titles", "CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE"]} |
A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c... | Tall stature-intellectual disability-facial dysmorphism syndrome | c4014545 | 5,105 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=404443 | 2021-01-23T17:58:17 | {"omim": ["615879"], "icd-10": ["Q87.3"], "synonyms": ["DNMT3A-related overgrowth syndrome", "Tatton-Brown-Rahman overgrowth syndrome"]} |
B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosom... | B4GALT1-CDG | c2931009 | 5,106 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79332 | 2021-01-23T19:08:48 | {"gard": ["9841"], "mesh": ["C535753"], "omim": ["607091"], "umls": ["C2931009"], "icd-10": ["E77.8"], "synonyms": ["Beta-1,4-galactosyltransferase deficiency", "CDG syndrome type IId", "CDG-IId", "CDG2D", "Carbohydrate deficient glycoprotein syndrome type IId", "Congenital disorder of glycosylation type 2d", "Congenit... |
Aquadynia
SpecialtyDermatology
Aquadynia is a variant of aquagenic pruritus, and characterized by a widespread burning pain that lasts 15 to 45 minutes after water exposure.[1]:56
## See also[edit]
* Aquagenic pruritus
* Pruritus
* Skin lesion
## References[edit]
1. ^ James, William; Berger, Timoth... | Aquadynia | None | 5,107 | wikipedia | https://en.wikipedia.org/wiki/Aquadynia | 2021-01-18T19:04:42 | {"wikidata": ["Q4782671"]} |
Fear of the sea or large open water
Thalassophobia
The Atlantic Ocean depicted as a deep body of water.
SpecialtyClinical Psychology
DurationMore than six months
TreatmentSystemic Desensitisation, Exposure Therapy, Counselling, Cognitive Behavioural Therapy (CBT), Medication
Thalassophobia (Greek: θ... | Thalassophobia | None | 5,108 | wikipedia | https://en.wikipedia.org/wiki/Thalassophobia | 2021-01-18T18:28:42 | {"wikidata": ["Q3656219"]} |
"ESUS" redirects here. For other uses, see ESUS (disambiguation).
Embolic stroke of undetermined source (ESUS) is a type of ischemic stroke with an unknown origin, defined as a non-lacunar brain infarct without proximal arterial stenosis or cardioembolic sources.[1] As such, it forms a subset of cryptogenic stroke, ... | Embolic stroke of undetermined source | c3888970 | 5,109 | wikipedia | https://en.wikipedia.org/wiki/Embolic_stroke_of_undetermined_source | 2021-01-18T19:01:15 | {"umls": ["C3888970"], "wikidata": ["Q55610805"]} |
Median arcuate ligament syndrome (MALS) is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of... | Median arcuate ligament syndrome | c1861783 | 5,110 | gard | https://rarediseases.info.nih.gov/diseases/12308/median-arcuate-ligament-syndrome | 2021-01-18T17:59:11 | {"mesh": ["D000074742"], "synonyms": ["MALS", "Celiac artery compression syndrome", "Celiac axis syndrome", "Dunbar syndrome"]} |
Dental fear
Other namesDental anxiety, dental phobia, odontophobia
Cycle of dental fear
Dental fear is a normal emotional reaction to one or more specific threatening stimuli in the dental situation.[1][2] However, dental anxiety is indicative of a state of apprehension that something dreadful is going to ha... | Dental fear | None | 5,111 | wikipedia | https://en.wikipedia.org/wiki/Dental_fear | 2021-01-18T18:28:19 | {"mesh": ["D016854"], "wikidata": ["Q143472"]} |
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrener... | Mitochondrial DNA-related dystonia | None | 5,112 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254851 | 2021-01-23T18:01:53 | {"icd-10": ["E88.8"], "synonyms": ["Maternally-inherited mitochondrial dystonia", "mtDNA-related dystonia"]} |
Nervous system disease located in nerves or nerve cells
Not to be confused with Nephropathy or Neuropathology.
Peripheral neuropathy
Micrograph showing a vasculitic peripheral neuropathy; plastic embedded; Toluidine blue stain
SpecialtyNeurology
Peripheral neuropathy, often shortened to neuropathy, is a ge... | Peripheral neuropathy | c0031117 | 5,113 | wikipedia | https://en.wikipedia.org/wiki/Peripheral_neuropathy | 2021-01-18T18:55:46 | {"mesh": ["D010523"], "umls": ["C0031117", "C1335029", "C0442874"], "icd-9": ["356.0", "356.8"], "icd-10": ["G64", "G90.0"], "orphanet": ["98496"], "wikidata": ["Q945238"]} |
## Description
Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intesti... | CELIAC DISEASE, SUSCEPTIBILITY TO, 11 | c2677603 | 5,114 | omim | https://www.omim.org/entry/612009 | 2019-09-22T16:02:30 | {"omim": ["612009"], "synonyms": ["Alternative titles", "GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 11"]} |
A rare renal disease characterized by excess urinary calcium excretion in the absence of an underlying systemic disease. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures.
*[v]: View this t... | Idiopathic hypercalciuria | c0543800 | 5,115 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2197 | 2021-01-23T18:20:21 | {"omim": ["143870", "607258"], "umls": ["C0543800"], "icd-10": ["E83.5"]} |
A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestina... | Paratyphoid fever | c0030528 | 5,116 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=443227 | 2021-01-23T17:55:01 | {"mesh": ["D010284"], "umls": ["C0030528"], "icd-10": ["A01.1", "A01.2", "A01.3", "A01.4"]} |
Bladder sphincter dyssynergia
Urodynamic trace of detrusor sphincter dyssynergia
SpecialtyUrology
Bladder sphincter dyssynergia (also known as detrusor sphincter dyssynergia (DSD) (the ICS standard terminology agreed 1998)[1] and neurogenic detrusor overactivity (NDO)) is a consequence of a neurological path... | Bladder sphincter dyssynergia | c0341747 | 5,117 | wikipedia | https://en.wikipedia.org/wiki/Bladder_sphincter_dyssynergia | 2021-01-18T19:01:10 | {"umls": ["C0341747"], "wikidata": ["Q13629899"]} |
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial po... | Orofaciodigital syndrome type 11 | c2752048 | 5,118 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141000 | 2021-01-23T18:17:30 | {"gard": ["4118"], "mesh": ["C557821"], "omim": ["612913"], "umls": ["C2752048"], "icd-10": ["Q87.0"], "synonyms": ["OFD11", "Oral-facial-digital syndrome type 11", "Oral-facial-digital syndrome, Gabrielli type", "Orofaciodigital syndrome, Gabrielli type"]} |
Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.
The s... | Xeroderma pigmentosum | c0268135 | 5,119 | medlineplus | https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum/ | 2021-01-27T08:25:11 | {"gard": ["7910"], "omim": ["278700", "610651", "278720", "278730", "278740", "278760", "278780", "278750"], "synonyms": []} |
Selective IgM deficiency (SIgMD) is a rare immune disorder in which a person has no immunoglobulin M (IgM) antibodies, or too little IgM, with normal levels of IgG and IgA antibodies. IgM is the first antibody the immune system makes to fight a new infection. Therefore, when a person does not have enough IgM, the bod... | Selective IgM deficiency | c0154275 | 5,120 | gard | https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency | 2021-01-18T17:57:46 | {"icd-10": ["D80.4"], "orphanet": ["331235"], "synonyms": ["Selective immunoglobulin M deficiency", "SIgMD"]} |
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydro... | Autosomal dominant spondylocostal dysostosis | c4083048 | 5,121 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1797 | 2021-01-23T17:03:20 | {"gard": ["12806"], "omim": ["122600"], "icd-10": ["Q76.4"], "synonyms": ["Autosomal dominant spondylocostal dysplasia"]} |
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1JJ (CMD1JJ) is caused by heterozygous mutation in the LAMA4 gene (600133) on chromosome 6q21.
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Molec... | CARDIOMYOPATHY, DILATED, 1JJ | c0340427 | 5,122 | omim | https://www.omim.org/entry/615235 | 2019-09-22T15:52:46 | {"doid": ["0110438"], "mesh": ["C536231"], "omim": ["615235"], "orphanet": ["154"]} |
Paratyphoid fever
Other namesParatyphoid
Rose colored spots on the chest of a person with typhoid fever which are similar to those of paratyphoid
SpecialtyInfectious disease
SymptomsFever, headache, rash, weakness[1][2]
Usual onset6–30 days post exposure[1][3]
DurationWeeks to months[1]
CausesSalmonella... | Paratyphoid fever | c0030528 | 5,123 | wikipedia | https://en.wikipedia.org/wiki/Paratyphoid_fever | 2021-01-18T18:34:22 | {"mesh": ["D010284"], "umls": ["C0343375", "C0030528", "C0343376", "C0343377"], "orphanet": ["443227"], "wikidata": ["Q705906"]} |
Early changes of acroosteolysis can be detected by x-ray. In this radiograph there is dissolution and fragmentation of the bone in several of the terminal phalanges.~CDC
Acroosteolysis is resorption of the distal bony phalanges. Acroosteolysis has two patterns of resorption in adults: diffuse and bandlike.
The ... | Acroosteolysis | c0917990 | 5,124 | wikipedia | https://en.wikipedia.org/wiki/Acroosteolysis | 2021-01-18T19:08:19 | {"mesh": ["D030981"], "wikidata": ["Q4676384"]} |
Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by abnormal blinking or spasms of the eyelids. It is a form of dystonia, a group of movement disorders involving uncontrolled tensing of the muscles (contractions), rhythmic shaking (tremors), and other involuntary movements... | Benign essential blepharospasm | c4692845 | 5,125 | gard | https://rarediseases.info.nih.gov/diseases/5909/benign-essential-blepharospasm | 2021-01-18T18:01:50 | {"omim": ["606798"], "orphanet": ["93955"], "synonyms": ["BEB", "OBSOLETE: Benign essential blepharospasm", "Primary blepharospasm", "Blepharospasm"]} |
A number sign (#) is used with this entry because immunodeficiency-32A (IMD32A) is caused by heterozygous mutation in the IRF8 gene (601565) on chromosome 16q24.1.
Immunodeficiency-32B (IMD32B; 614894), an autosomal recessive disorder, is allelic.
Description
Autosomal dominant IRF8 deficiency, or IMD32A, causes a... | IMMUNODEFICIENCY 32A | c3808589 | 5,126 | omim | https://www.omim.org/entry/614893 | 2019-09-22T15:53:47 | {"omim": ["614893"], "orphanet": ["319600"], "synonyms": ["CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT", "MSMD due to partial interferon regulatory factor 8 deficiency", "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency", "Alterna... |
Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.
## Epidemiology
It may occur sporadically or as an inherited disease, but less than 30 kindre... | Primary erythromelalgia | c0014805 | 5,127 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90026 | 2021-01-23T16:58:24 | {"gard": ["6377"], "mesh": ["D004916"], "omim": ["133020"], "umls": ["C0014805"], "icd-10": ["I73.8"], "synonyms": ["Primary erythermalgia"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to migraine with aura-13 (MGR13) is conferred by heterozygous mutation in the KCNK18 gene (613655) on chromosome 10q25.
Clinical Features
Lafreniere et al. (2010) reported a large 4-generation family in which migraine with aura was tr... | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 | c3150908 | 5,128 | omim | https://www.omim.org/entry/613656 | 2019-09-22T15:58:01 | {"omim": ["613656"]} |
Usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa. Sensorineural hearing means it is caused by abnormalities of the inner ear. Retinitis pigmentosa is an eye disease that affects the layer of light-sensitive tissue at t... | Usher syndrome type 3A | c1568248 | 5,129 | gard | https://rarediseases.info.nih.gov/diseases/5442/usher-syndrome-type-3a | 2021-01-18T17:57:13 | {"mesh": ["D052245"], "omim": ["276902"], "umls": ["C1568248"], "synonyms": ["USH3A", "USH3"]} |
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: "Omphalitis of newborn" – news · newspapers · books · scholar · JSTOR (November 2011) (Learn how and when to remove this... | Omphalitis of newborn | c0158947 | 5,130 | wikipedia | https://en.wikipedia.org/wiki/Omphalitis_of_newborn | 2021-01-18T18:37:49 | {"icd-9": ["771.4"], "icd-10": ["P38"], "wikidata": ["Q586878"]} |
A number sign (#) is used with this entry because of evidence that Wilms tumor-2 (WT2) is caused by mutation of the H19/IGF2-imprinting control region (ICR1; 616186) on chromosome 11p15. ICR1 controls imprinted expression of H19 (103280) and IGF2 (147470).
ICR1 and a neighboring imprinted gene cluster are implic... | WILMS TUMOR 2 | c0027708 | 5,131 | omim | https://www.omim.org/entry/194071 | 2019-09-22T16:31:46 | {"mesh": ["D009396"], "omim": ["194071"], "orphanet": ["654"], "genereviews": ["NBK1294"]} |
Childhood hepatocellular carcinoma (childhood HCC) is a rare type of malignant (cancerous) tumor that forms in the cells and tissues of the liver. Childhood HCC is usually found in older children and adolescents (10-14 years), but has been found in children younger than 5. Symptoms may include a mass in the abdomen, ... | Childhood hepatocellular carcinoma | c0279606 | 5,132 | gard | https://rarediseases.info.nih.gov/diseases/9331/childhood-hepatocellular-carcinoma | 2021-01-18T18:01:29 | {"omim": ["114550"], "umls": ["C0279606"], "orphanet": ["33402"], "synonyms": ["Childhood Carcinoma of Liver Cell", "Childhood Hepatoma", "Childhood Liver Cell Carcinoma", "Pediatric Carcinoma of Liver Cell", "Pediatric Hepatocellular Carcinoma", "Pediatric Hepatoma", "Pediatric Liver Cell Carcinoma"]} |
Granulocytosis
SpecialtyHematology
In medicine, granulocytosis is the presence of an increased number of granulocytes in the peripheral blood. Often, the word refers to an increased neutrophil granulocyte count (neutrophilia), but granulocytosis formally refers to the combination of neutrophilia, eosinophilia,... | Granulocytosis | c1282609 | 5,133 | wikipedia | https://en.wikipedia.org/wiki/Granulocytosis | 2021-01-18T18:54:46 | {"umls": ["C0861145", "C1282609"], "wikidata": ["Q3775781"]} |
A number sign (#) is used with this entry because Griscelli syndrome type 2 (GS2), which is characterized by hypomelanosis with immunologic abnormalities with or without neurologic impairment, is caused by mutation in the RAB27A gene (603868).
For a discussion of phenotypic and genetic heterogeneity of Griscelli... | GRISCELLI SYNDROME, TYPE 2 | c1868679 | 5,134 | omim | https://www.omim.org/entry/607624 | 2019-09-22T16:08:59 | {"doid": ["0060833"], "mesh": ["C537302"], "omim": ["607624"], "orphanet": ["79477", "381"], "synonyms": ["Alternative titles", "GRISCELLI SYNDROME WITH HEMOPHAGOCYTIC SYNDROME", "PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME", "PAID 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: "Mucopolysaccharidosis" – news · newspapers · books · scholar · JSTOR (November 2008) (Learn how and when to remove this... | Mucopolysaccharidosis | c0026703 | 5,135 | wikipedia | https://en.wikipedia.org/wiki/Mucopolysaccharidosis | 2021-01-18T19:01:41 | {"gard": ["7065"], "mesh": ["D009083"], "umls": ["C0026703"], "orphanet": ["79213"], "wikidata": ["Q1479681"]} |
Griscelli syndrome type 2
Other namesHypopigmentation-immunodeficiency with or without neurologic impairment syndrome
This condition is inherited in an autosomal recessive manner
Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome char... | Griscelli syndrome type 2 | c1868679 | 5,136 | wikipedia | https://en.wikipedia.org/wiki/Griscelli_syndrome_type_2 | 2021-01-18T18:39:45 | {"gard": ["4483"], "mesh": ["C537302"], "umls": ["C1868679"], "orphanet": ["79477"], "wikidata": ["Q5609615"]} |
Insulitis is an inflammation of the islets of Langerhans, a collection of endocrine tissue located in the pancreas.[1][2][3] The islets containing the pancreatic β-cells, and in some cases, the exocrine tissues, become infiltrated by T and B lymphocytes, macrophages and dendritic cells.[4][5][6] This innate immun... | Insulitis | c3686577 | 5,137 | wikipedia | https://en.wikipedia.org/wiki/Insulitis | 2021-01-18T18:36:23 | {"wikidata": ["Q922215"]} |
Running injuries
Other namesRunning-related injuries (RRI)
SpecialtySports medicine
Running injuries (or running-related injuries, RRI) affect about half of runners annually. The frequencies of various RRI depend on the type of running, such as speed and mileage. Some injuries are acute, caused by sudden... | Running injuries | None | 5,138 | wikipedia | https://en.wikipedia.org/wiki/Running_injuries | 2021-01-18T18:50:12 | {"wikidata": ["Q30314084"]} |
The clinical manifestations of mental retardation, spastic diplegia, and congenital deafness in various degrees are known as the neurologic type of endemic cretinism, which occurs in countries with high goiter endemicity. Maternal iodine deficiency has been established as a major cause. On the basis of studies of... | FETAL IODINE DEFICIENCY DISORDER | c0342200 | 5,139 | omim | https://www.omim.org/entry/228355 | 2019-09-22T16:27:53 | {"mesh": ["D003409"], "omim": ["228355"], "icd-10": ["E00.1"], "orphanet": ["1910"], "synonyms": ["Alternative titles", "ENDEMIC CRETINISM"]} |
Motor speech disorder cause by damage to motor systems
Dysarthria
SpecialtyNeurology, neuropsychology
Dysarthria is a motor speech disorder resulting from neurological injury of the motor component of the motor–speech system[1] and is characterized by poor articulation of phonemes.[2] In other words, it is a ... | Dysarthria | c0013362 | 5,140 | wikipedia | https://en.wikipedia.org/wiki/Dysarthria | 2021-01-18T18:33:59 | {"mesh": ["D004401"], "umls": ["C0013362"], "icd-9": ["784.5"], "icd-10": ["R47.1"], "wikidata": ["Q225957"]} |
A number sign (#) is used with this entry because of evidence that calcification of joints and arteries (CALJA) is caused by homozygous or compound heterozygous mutation in the NT5E gene (129190) on chromosome 6q14.
Description
Adult-onset calcification of the lower extremity arteries, including the iliac, femoral,... | CALCIFICATION OF JOINTS AND ARTERIES | c1859372 | 5,141 | omim | https://www.omim.org/entry/211800 | 2019-09-22T16:30:16 | {"mesh": ["C565891"], "omim": ["211800"], "orphanet": ["289601"], "synonyms": ["Alternative titles", "ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73", "Calcification of joints and arteries", "CALJA"]} |
A number sign (#) is used with this entry because Usher syndrome type IIIA (USH3A) is caused by homozygous or compound heterozygous mutation in the CLRN1 gene (606397) on chromosome 3q25.
Mutation in the same gene can cause a form of nonsyndromic retinitis pigmentosa (RP61; 614180).
Description
Usher syndrome type... | USHER SYNDROME, TYPE IIIA | c0271097 | 5,142 | omim | https://www.omim.org/entry/276902 | 2019-09-22T16:21:25 | {"doid": ["0110841"], "mesh": ["D052245"], "omim": ["276902"], "orphanet": ["886", "231183"], "synonyms": ["Alternative titles", "USHER SYNDROME, TYPE III"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Aggressive fibromatosis" – news · newspape... | Aggressive fibromatosis | c0079218 | 5,143 | wikipedia | https://en.wikipedia.org/wiki/Aggressive_fibromatosis | 2021-01-18T18:36:55 | {"gard": ["1820"], "mesh": ["D018222"], "umls": ["C0079218"], "icd-10": ["D48.1"], "wikidata": ["Q475086"]} |
A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms imp... | Brody myopathy | c1832918 | 5,144 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53347 | 2021-01-23T18:33:16 | {"gard": ["9158"], "mesh": ["C536607"], "omim": ["601003"], "umls": ["C1832918"], "icd-10": ["G71.8"]} |
Not to be confused with Cytokine release syndrome.
highly morbid or fatal immune reaction
A cytokine storm, also called hypercytokinemia, is a physiological reaction in humans and other animals in which the innate immune system causes an uncontrolled and excessive release of pro-inflammatory signaling molecules cal... | Cytokine storm | c0919747 | 5,145 | wikipedia | https://en.wikipedia.org/wiki/Cytokine_storm | 2021-01-18T18:31:17 | {"umls": ["C0919747"], "wikidata": ["Q1076369"]} |
A number sign (#) is used with this entry because Bernard-Soulier syndrome (BSS) has been found to be caused by mutation in the GP1BA gene (606672), the GP1BB gene (138720), or the GP9 gene (173515); the forms of BSS caused by homozygous or compound heterozygous mutation in these genes are here referred to as types A... | BERNARD-SOULIER SYNDROME | c0005129 | 5,146 | omim | https://www.omim.org/entry/231200 | 2019-09-22T16:27:34 | {"doid": ["2217"], "mesh": ["D001606"], "omim": ["231200"], "orphanet": ["274"], "synonyms": ["Alternative titles", "BLEEDING DISORDER, PLATELET-TYPE, 1", "PLATELET GLYCOPROTEIN Ib DEFICIENCY", "GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF", "VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY"]} |
L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. It includes several conditions, some more severe than others: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) - the most s... | L1 syndrome | c0795953 | 5,147 | gard | https://rarediseases.info.nih.gov/diseases/12524/l1-syndrome | 2021-01-18T17:59:32 | {"mesh": ["C536029"], "orphanet": ["275543"], "synonyms": ["Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome", "CRASH syndrome", "L1CAM syndrome"]} |
Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.
*[v]: View this template
*[t]: Discuss this templ... | Pseudopelade of Brocq | c0086873 | 5,148 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=129 | 2021-01-23T16:54:21 | {"gard": ["4536"], "mesh": ["C531609", "D000505"], "umls": ["C0086873"], "icd-10": ["L66.0"]} |
A number sign (#) is used with this entry because Joubert syndrome-15 (JBTS15) is caused by homozygous mutation in the CEP41 gene (610523) on chromosome 7q32. Digenic inheritance has also been reported; see MOLECULAR GENETICS.
Description
Joubert syndrome-15 is an autosomal recessive developmental disorder characte... | JOUBERT SYNDROME 15 | c3280897 | 5,149 | omim | https://www.omim.org/entry/614464 | 2019-09-22T15:55:10 | {"doid": ["0110984"], "omim": ["614464", "213300"], "orphanet": ["475", "220493"], "synonyms": ["Cerebelloparenchymal disorder IV", "JS-O", "Classic Joubert syndrome", "Joubert-Boltshauser syndrome", "Joubert syndrome type A", "CPD IV", "Pure Joubert syndrome", "Joubert syndrome with retinopathy"], "genereviews": ["NBK... |
## Clinical Features
The typical setting-sun phenomenon consists of a downward rotation of the eyes with upper eyelid retraction and a rim of sclera visual above each iris. Haverkamp and Weimann (1995) described a family with 2 affected sisters and with 2 affected males and an affected female in a sibship related a... | SETTING-SUN PHENOMENON, FAMILIAL BENIGN | c1833577 | 5,150 | omim | https://www.omim.org/entry/600598 | 2019-09-22T16:16:02 | {"mesh": ["C563470"], "omim": ["600598"]} |
## Description
Craniometadiaphyseal dysplasia (CRMDD) is characterized clinically by macrocephaly with frontal prominence, dental hypoplasia, and increased bone fragility. Diagnostic radiologic features include thin bones in the superior part of calvaria with prominent wormian bones, diaphyseal widening of the long... | CRANIOMETADIAPHYSEAL DYSPLASIA | c0265292 | 5,151 | omim | https://www.omim.org/entry/269300 | 2019-09-22T16:22:28 | {"mesh": ["C537519"], "omim": ["269300"], "orphanet": ["85184"], "synonyms": []} |
negative attitudes and discrimination toward vegetarian and vegan people
Part of a series on
Discrimination
General forms
* Age
* Class (Caste)
* Physical Disability
* Education
* Economic
* Employment
* Genetics
* Hair texture
* Height
* Housing
* Language
* Looks
* Race / Ethnicit... | Vegaphobia | None | 5,152 | wikipedia | https://en.wikipedia.org/wiki/Vegaphobia | 2021-01-18T18:57:03 | {"wikidata": ["Q40800461"]} |
A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occ... | Mid-dermal elastolysis | None | 5,153 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228299 | 2021-01-23T17:23:44 | {} |
A number sign (#) is used with this entry because of evidence that Reis-Bucklers corneal dystrophy (CDRB, or CDB1) is caused by heterozygous mutation in the TGFBI gene (601692) on chromosome 5q31.
The TGFBI gene is mutant in several other forms of corneal dystrophy, including Thiel-Behnke corneal dystrophy (CDTB, or... | CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE | c0339278 | 5,154 | omim | https://www.omim.org/entry/608470 | 2019-09-22T16:07:49 | {"doid": ["0060453"], "mesh": ["C535476"], "omim": ["608470"], "orphanet": ["98961"], "synonyms": ["Alternative titles", "REIS-BUCKLERS CORNEAL DYSTROPHY", "CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I", "CORNEAL DYSTROPHY, GEOGRAPHIC", "GRANULAR CORNEAL DYSTROPHY, TYPE III"]} |
A number sign (#) is used with this entry because of evidence that Townes-Brocks syndrome-1 (TBS1) is caused by heterozygous mutation in the gene encoding the SALL1 putative transcription factor (602218) on chromosome 16q12.
There is also evidence that a Townes-Brocks-branchiootorenal-like syndrome is caused by hete... | TOWNES-BROCKS SYNDROME 1 | c0265246 | 5,155 | omim | https://www.omim.org/entry/107480 | 2019-09-22T16:44:54 | {"doid": ["0050887"], "mesh": ["C536974"], "omim": ["107480"], "orphanet": ["857"], "synonyms": ["Alternative titles", "RENAL-EAR-ANAL-RADIAL SYNDROME", "REAR SYNDROME", "ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES", "DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES"], "genereviews": ["NBK14... |
A number sign (#) is used with this entry because of evidence that rare cases of primary bile acid malabsorption (PBAM) are caused by compound heterozygous mutation in the SLC10A2 gene (601295) on chromosome 13q33.
Description
Primary bile acid malabsorption is an intestinal disorder associated with chronic watery ... | BILE ACID MALABSORPTION, PRIMARY | c2750087 | 5,156 | omim | https://www.omim.org/entry/613291 | 2019-09-22T15:59:04 | {"mesh": ["C567652"], "omim": ["613291"]} |
For the pupillary defect, see Marcus Gunn pupil.
Marcus Gunn phenomenon
Other namesMarcus Gunn jaw-winking or Trigemino-oculomotor synkinesis
Nerves of the orbit, and the ciliary ganglion. Side view. (Trigeminal nerve and oculomotor nerve both visible)
SpecialtyOphthalmology neurology
Marcus Gunn phenomen... | Marcus Gunn phenomenon | c0266521 | 5,157 | wikipedia | https://en.wikipedia.org/wiki/Marcus_Gunn_phenomenon | 2021-01-18T19:09:03 | {"gard": ["6972"], "mesh": ["C535908"], "umls": ["C0266521"], "orphanet": ["91412"], "wikidata": ["Q1476789"]} |
Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia). Most often Alpers syndrome is caused b... | Alpers syndrome | c0205710 | 5,158 | gard | https://rarediseases.info.nih.gov/diseases/5783/alpers-syndrome | 2021-01-18T18:02:11 | {"mesh": ["D002549"], "omim": ["203700"], "orphanet": ["726"], "synonyms": ["Alpers disease", "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis", "Alpers progressive infantile poliodystrophy", "Poliodystrophia cerebri progressiva", "Progressive cerebral poliodystrophy", "Diffuse cerebral degen... |
## Description
The atherogenic lipoprotein phenotype (ALP) is a common heritable trait characterized by a preponderance of small, dense low density lipoprotein (LDL) particles (subclass pattern B), increased levels of triglyceride-rich lipoproteins, reduction in high density lipoprotein, and a 3-fold increased risk... | ATHEROSCLEROSIS SUSCEPTIBILITY | c1531719 | 5,159 | omim | https://www.omim.org/entry/108725 | 2019-09-22T16:44:40 | {"omim": ["108725"], "synonyms": ["Alternative titles", "ATHEROGENIC LIPOPROTEIN PHENOTYPE"]} |
## Clinical Features
Richards and Rundle (1959) described a family in which 5 of 13 offspring of a marriage of first cousins once removed had mental retardation, underdevelopment of secondary sex characteristics, deafness, ataxia, and peripheral muscle wasting. The onset of deafness and ataxia was in early infancy,... | RICHARDS-RUNDLE SYNDROME | c0796136 | 5,160 | omim | https://www.omim.org/entry/245100 | 2019-09-22T16:26:05 | {"mesh": ["C535674"], "omim": ["245100"], "orphanet": ["1399"], "synonyms": ["Alternative titles", "ATAXIA-DEAFNESS-MENTAL RETARDATION SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 7 (MC1DN7) is caused by homozygous mutation in the NDUFV2 gene (600532) on chromosome 18p11.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Clinical Featur... | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | c2936907 | 5,161 | omim | https://www.omim.org/entry/618229 | 2019-09-22T15:43:02 | {"mesh": ["C537475"], "omim": ["618229"], "orphanet": ["2609", "255241"]} |
## Summary
### Clinical characteristics.
Citrullinemia type I (CTLN1) presents as a clinical spectrum that includes an acute neonatal form (the "classic" form), a milder late-onset form (the "non-classic" form), a form without symptoms or hyperammonemia, and a form in which women have onset of severe symptoms durin... | Citrullinemia Type I | c0175683 | 5,162 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1458/ | 2021-01-18T21:34:49 | {"mesh": ["D020159"], "synonyms": ["Argininosuccinate Synthetase Deficiency", "Argininosuccinic Acid Synthetase Deficiency", "ASS Deficiency", "Classic Citrullinemia", "CTLN1"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Streff syndrome" – news · newspapers · boo... | Streff syndrome | None | 5,163 | wikipedia | https://en.wikipedia.org/wiki/Streff_syndrome | 2021-01-18T18:29:17 | {"wikidata": ["Q7623169"]} |
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.
## Epidemiology
Prevalence is unknown, but more than 40 cases have been reported to date.
## Clinical d... | Epidermolysis bullosa simplex with muscular dystrophy | c2931072 | 5,164 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=257 | 2021-01-23T19:02:44 | {"gard": ["2137"], "mesh": ["C535955"], "omim": ["226670"], "umls": ["C2931072"], "icd-10": ["Q81.0"], "synonyms": ["EBS-MD", "Limb-girdle muscular dystrophy with epidermolysis bullosa simplex"]} |
Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.
## Epidemiology
It affects between 1 in 13,000 and 1 in 15,000 newborns.
## Clinical description
Red and green vision is unaffected.
## Etiology
It is associated with a deficiency or absence of blue-... | Tritanopia | c0155017 | 5,165 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88629 | 2021-01-23T18:46:38 | {"mesh": ["D003117"], "omim": ["190900"], "umls": ["C0155017"], "icd-10": ["H53.5"], "synonyms": ["Blue colour blindness", "Congenital tritanopia", "Tritan colour blindness"]} |
## Clinical Features
In 2 generations of a Northern Ireland family, Graham et al. (1988, 1991) described 7 males with clinical anophthalmia, of whom 3 were deceased at the time of study. The pattern was consistent with X-linked recessive inheritance, and multipoint linkage analysis suggested that gene was localized... | MICROPHTHALMIA, SYNDROMIC 4 | c1844948 | 5,166 | omim | https://www.omim.org/entry/301590 | 2019-09-22T16:18:47 | {"mesh": ["C564457"], "omim": ["301590"], "orphanet": ["85275"], "synonyms": ["Alternative titles", "MICROPHTHALMIA WITH ANKYLOBLEPHARON AND MENTAL RETARDATION", "ANOP1, FORMERLY"]} |
## Summary
The purpose of this overview on hereditary dystonia is to help clinicians determine if an individual has a hereditary dystonia in order to provide information regarding recurrence risk and evaluation of relatives at risk.
### Goal 1.
Describe the clinical characteristics of dystonia.
### Goal 2.
Revie... | Hereditary Dystonia Overview | None | 5,167 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1155/ | 2021-01-18T21:21:06 | {"synonyms": []} |
A number sign (#) is used with this entry because the Cromer blood group system is based on homozygous mutation in the CD55 gene (CD55; 125240) on chromosome 1q32.
Description
The Cromer blood group system (CROM) consists of 12 high-prevalence and 3 low-prevalence antigens that reside on decay-accelerating factor (... | BLOOD GROUP, CROMER SYSTEM | None | 5,168 | omim | https://www.omim.org/entry/613793 | 2019-09-22T15:57:31 | {"omim": ["613793"], "synonyms": ["Alternative titles", "CROMER BLOOD GROUP SYSTEM"]} |
A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal p... | Acute zonal occult outer retinopathy | c0730298 | 5,169 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284454 | 2021-01-23T18:26:37 | {"gard": ["8640"], "mesh": ["C538223"], "umls": ["C0730298"], "synonyms": ["AZOOR"]} |
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: "Cryptorchidism" – news · newspapers · books · scholar · JSTOR (November 2010) (Learn how and when to remove this templa... | Cryptorchidism | c0010417 | 5,170 | wikipedia | https://en.wikipedia.org/wiki/Cryptorchidism | 2021-01-18T19:07:36 | {"mesh": ["D003456"], "umls": ["C0010417"], "wikidata": ["Q966052"]} |
Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disor... | Nuclear gene-encoded Leigh syndrome | None | 5,171 | gard | https://rarediseases.info.nih.gov/diseases/12941/nuclear-gene-encoded-leigh-syndrome | 2021-01-18T17:58:39 | {"synonyms": []} |
## Clinical Features
Fred et al. (1962) described acute pulmonary edema precipitated in some persons at high altitude. Their 2 patients were both physicians who on one or more occasions were near death from pulmonary edema that developed when skiing at altitudes of 6,000 to 10,000 feet. The father of one of these, ... | PULMONARY EDEMA OF MOUNTAINEERS, SUSCEPTIBILITY TO | c0340552 | 5,172 | omim | https://www.omim.org/entry/178400 | 2019-09-22T16:35:24 | {"mesh": ["C535833"], "omim": ["178400"], "synonyms": ["Alternative titles", "HIGH ALTITUDE PULMONARY HYPERTENSION"]} |
This article is about the neurological syndrome. For the congenital disorder, see split hand.
Split hand syndrome
SpecialtyNeurological
In medicine, split hand syndrome is a neurological syndrome in which the hand muscles on the side of the thumb (lateral, thenar eminence) appear wasted, whereas the muscles o... | Split hand syndrome | None | 5,173 | wikipedia | https://en.wikipedia.org/wiki/Split_hand_syndrome | 2021-01-18T18:35:51 | {"wikidata": ["Q7578690"]} |
Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed f... | Type A insulin resistance syndrome | c0342278 | 5,174 | medlineplus | https://medlineplus.gov/genetics/condition/type-a-insulin-resistance-syndrome/ | 2021-01-27T08:25:36 | {"gard": ["3008"], "mesh": ["C562710"], "omim": ["610549"], "synonyms": []} |
Shwachman-Diamond syndrome (SDS) affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. Symptoms include the inability to digest food due to missing digestive enzymes, low muscle tone, and anemia. Other symptoms include skeletal findings and intellectual disability. Children with... | Shwachman-Diamond syndrome | c0272170 | 5,175 | gard | https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome | 2021-01-18T17:57:43 | {"mesh": ["C537330"], "omim": ["260400"], "umls": ["C0272170"], "orphanet": ["811"], "synonyms": ["SDS", "Pancreatic insufficiency and bone marrow dysfunction", "Shwachman-Bodian syndrome", "Lipomatosis of pancreas, congenital", "Congenital lipomatosis of pancreas"]} |
AIDS dysmorphic syndrome, also called HIV embryopathy, is a cluster of facial malformations seen in children with perinatal HIV infection. Its status as a syndrome is disputed by the research community. Common symptoms of perinatal HIV infection include candidiasis, lymphocytic interstitial pneumonitis, hepatosplenom... | AIDS dysmorphic syndrome | None | 5,176 | wikipedia | https://en.wikipedia.org/wiki/AIDS_dysmorphic_syndrome | 2021-01-18T18:34:39 | {"gard": ["5765"], "wikidata": ["Q24975595"]} |
Hypokalemic sensory overstimulation
Hypokalemic sensory overstimulation is characterized by a subjective experience of sensory overload and a relative resistance to lidocaine local anesthesia. The sensory overload is treatable with oral potassium gluconate. Individuals with this condition are sometimes diagnosed... | Hypokalemic sensory overstimulation | None | 5,177 | wikipedia | https://en.wikipedia.org/wiki/Hypokalemic_sensory_overstimulation | 2021-01-18T19:09:26 | {"wikidata": ["Q48837404"]} |
Papillomatosis
SpecialtyDermatology
Papillomatosis of skin is skin surface elevation caused by hyperplasia and enlargement of contiguous dermal papillae.[1] These papillary projections of the epidermis form an undulating surface under microscopic examination.
## See also[edit]
* Skin lesion
* Skin di... | Papillomatosis | c0205875 | 5,178 | wikipedia | https://en.wikipedia.org/wiki/Papillomatosis | 2021-01-18T18:57:33 | {"mesh": ["D010212"], "wikidata": ["Q1223924"]} |
De Vries et al. (1962) presented evidence, based on 3 extensively studied families, that uric acid urolithiasis can be inherited as an autosomal dominant trait independent of gout. In these families no gout or hyperuricemia was found. Cases of this type had rather long been recognized and had been referred to by ... | UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT | c2674049 | 5,179 | omim | https://www.omim.org/entry/191700 | 2019-09-22T16:32:07 | {"omim": ["191700"], "synonyms": ["Alternative titles", "NEPHROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT"]} |
Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.
Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line that goes over the h... | Muenke syndrome | c1864436 | 5,180 | medlineplus | https://medlineplus.gov/genetics/condition/muenke-syndrome/ | 2021-01-27T08:24:51 | {"gard": ["7097"], "mesh": ["C537369"], "omim": ["602849"], "synonyms": []} |
Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.
The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underd... | Genitopatellar syndrome | c1853566 | 5,181 | medlineplus | https://medlineplus.gov/genetics/condition/genitopatellar-syndrome/ | 2021-01-27T08:25:43 | {"gard": ["10994"], "mesh": ["C565255"], "omim": ["606170"], "synonyms": []} |
A number sign (#) is used with this entry because encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1) is caused by heterozygous mutation in the DNM1L gene (603850), encoding the dynamin-1-like protein, on chromosome 12p. Some patients have compound heterozygous DNM1L mutations.
Descriptio... | ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 | c3280660 | 5,182 | omim | https://www.omim.org/entry/614388 | 2019-09-22T15:55:26 | {"omim": ["614388"], "orphanet": ["330050"], "synonyms": ["Alternative titles", "EMPF"]} |
A rare disorder of the anterior segment of the eye characterized by spontaneous separation of the anterior layer of the iris stroma from the posterior stroma and muscle layers. The anterior layer then splits into strands, and the free ends float freely in the anterior chamber. The condition usually affects patients i... | Isolated iridoschisis | None | 5,183 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=519392 | 2021-01-23T17:21:28 | {"icd-10": ["H21.2"]} |
Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).
## Epidemiology
MSA-p is observed predominantly in patients from the Western Hemisp... | Multiple system atrophy, parkinsonian type | None | 5,184 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98933 | 2021-01-23T16:52:59 | {"icd-10": ["G23.2"], "synonyms": ["MSA, parkinsonian type", "MSA-p"]} |
A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse ... | Autosomal recessive epidermolytic ichthyosis | c4225407 | 5,185 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=512103 | 2021-01-23T17:20:34 | {"synonyms": ["AREI"]} |
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglyc... | Short-chain acyl-CoA dehydrogenase deficiency | c0342783 | 5,186 | medlineplus | https://medlineplus.gov/genetics/condition/short-chain-acyl-coa-dehydrogenase-deficiency/ | 2021-01-27T08:25:28 | {"gard": ["4822"], "mesh": ["C537596"], "omim": ["201470"], "synonyms": []} |
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
## Epidemiology
HHRH has been described in several kindreds and in a few sporadic cases from Europe, North... | Hereditary hypophosphatemic rickets with hypercalciuria | c1853271 | 5,187 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157215 | 2021-01-23T17:57:45 | {"mesh": ["C562793"], "omim": ["241530"], "umls": ["C1853271"], "icd-10": ["E83.3"], "synonyms": ["HHRH"]} |
Comedown or crashing is a phase of drug withdrawal that involves the deterioration in mood and energy that occurs when a psychoactive drug, typically a stimulant,[1] clears from the blood. The improvement and deterioration of mood (euphoria and dysphoria) are represented in the cognitive schema as high and low elevat... | Comedown (drugs) | None | 5,188 | wikipedia | https://en.wikipedia.org/wiki/Comedown_(drugs) | 2021-01-18T18:42:46 | {"wikidata": ["Q5151412"]} |
Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid... | Aceruloplasminemia | c0878682 | 5,189 | gard | https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia | 2021-01-18T18:02:23 | {"mesh": ["C536004"], "omim": ["604290"], "orphanet": ["48818"], "synonyms": ["Ceruloplasmin deficiency", "Familial apoceruloplasmin deficiency", "Hereditary ceruloplasmin deficiency", "Hypoceruloplasminemia", "Systemic hemosiderosis due to aceruloplasminemia"]} |
Canine subvalvular aortic stenosis (SAS) is an abnormal, congenital heart murmur caused by subaortic stenosis (SAS). There is a high incidence of this condition identified in large and giant breed dogs like the Rottweiler, Newfoundland, Golden Retriever, Boxer, German Shepherd, English Bulldog, Great Dane, German Sho... | Subvalvular aortic stenosis (canine) | c0340375 | 5,190 | wikipedia | https://en.wikipedia.org/wiki/Subvalvular_aortic_stenosis_(canine) | 2021-01-18T18:32:15 | {"gard": ["5052"], "mesh": ["D001020"], "umls": ["C0340375"], "wikidata": ["Q7632441"]} |
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
## Epidemiology
The s... | Spondyloepimetaphyseal dysplasia, Irapa type | c0432213 | 5,191 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93351 | 2021-01-23T17:14:47 | {"mesh": ["C562958"], "omim": ["271650"], "umls": ["C0432213"], "icd-10": ["Q77.7"], "synonyms": ["SEMD, Irapa type"]} |
Pure red cell aplasia (PRCA) is a rare condition that affects the bone marrow. Bone marrow contains stem cells which develop into the red blood cells that carry oxygen through the body, the white blood cells that fight infections, and the platelets that help with blood clotting. In people with PRCA, the bone marrow m... | Pure red cell aplasia | c0034902 | 5,192 | gard | https://rarediseases.info.nih.gov/diseases/7504/pure-red-cell-aplasia | 2021-01-18T17:58:02 | {"mesh": ["D012010"], "umls": ["C0034902"], "synonyms": ["PRCA"]} |
## Description
Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the ... | LYMPHATIC MALFORMATION 5 | c0238261 | 5,193 | omim | https://www.omim.org/entry/153200 | 2019-09-22T16:38:46 | {"doid": ["0070213"], "mesh": ["C562467"], "omim": ["153200"], "orphanet": ["90186"], "synonyms": ["Alternative titles", "MEIGE DISEASE", "MEIGE LYMPHEDEMA", "LYMPHEDEMA, LATE-ONSET", "LYMPHEDEMA PRAECOX", "LYMPHEDEMA, HEREDITARY, II, FORMERLY"]} |
This form appears to be distinct from the two types that are inherited as autosomal recessives (254780, 254800). Unlike those forms, no Lafora bodies were found at autopsy and only diffuse atrophy was present.
Neuro \- Myoclonic epilepsy Lab \- No Lafora bodies at autopsy \- only diffuse atrophy Inheritance \- Au... | MYOCLONIC EPILEPSY, HARTUNG TYPE | c1834581 | 5,194 | omim | https://www.omim.org/entry/159600 | 2019-09-22T16:37:47 | {"mesh": ["C563550"], "omim": ["159600"]} |
A number sign (#) is used with this entry because of evidence that DFNA9 is caused by heterozygous mutation in the cochlin gene (COCH; 603196) on chromosome 14q12.
Description
DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (s... | DEAFNESS, AUTOSOMAL DOMINANT 9 | c1832425 | 5,195 | omim | https://www.omim.org/entry/601369 | 2019-09-22T16:14:57 | {"doid": ["0110593"], "mesh": ["C563335"], "omim": ["601369"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolate... |
Tinea imbricata (TI) produces a superficial skin infection with unmistakable clinical appearance. It is a chronic disorder common in parts of Papua New Guinea and Oceania. It has also been reported in Mexico and South America. A familial pattern suggested to Serjeantson and Lawrence (1977) autosomal recessive inherit... | TINEA IMBRICATA, SUSCEPTIBILITY TO | c0276742 | 5,196 | omim | https://www.omim.org/entry/275240 | 2019-09-22T16:21:40 | {"mesh": ["D014006"], "omim": ["275240"], "icd-10": ["B35.0"]} |
## Description
The XG blood group system is the only blood group system assigned to the X chromosome. The system consists of 2 antigens, Xg(a) and CD99, which are encoded by 2 adjacent genes, XG and CD99 (313470). Xg(a) may be expressed only on red blood cells, whereas CD99 is expressed on all tissue cells. The exp... | BLOOD GROUP, XG SYSTEM | None | 5,197 | omim | https://www.omim.org/entry/314700 | 2019-09-22T16:17:04 | {"omim": ["314700"], "synonyms": ["Alternative titles", "XG BLOOD GROUP SYSTEM"]} |
Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are know... | Distal myopathy 2 | c3807521 | 5,198 | medlineplus | https://medlineplus.gov/genetics/condition/distal-myopathy-2/ | 2021-01-27T08:24:57 | {"gard": ["1887"], "omim": ["606070"], "synonyms": []} |
Paraphilia involving a sexual fixation on non-human animal
For plant pollination carried by animals, see Zoophily.
Roman oil lamp depicting a zoophilic act, 1st–3rd century A.D.
Pan having sex with a goat, statue from Villa of the Papyri, Herculaneum (catalogued 1752)
Zoophilia is a paraphilia involving a sexual ... | Zoophilia | c0152186 | 5,199 | wikipedia | https://en.wikipedia.org/wiki/Zoophilia | 2021-01-18T19:08:33 | {"umls": ["C0152186"], "wikidata": ["Q8392"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.