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Duca et al. (1981) described mother and her 3 daughters with short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with deafness. See Wettke-Schafer and Kantner (1983) for discussion of possible X-linked dominant inheritance with lethality in hemizygous males.
Joints \- Hip dislocat... | COXOAURICULAR SYNDROME | c1852513 | 1,900 | omim | https://www.omim.org/entry/122780 | 2019-09-22T16:42:48 | {"mesh": ["C565148"], "omim": ["122780"], "orphanet": ["1508"]} |
Injection site reactions are allergic reactions that result in cutaneous necrosis that may occur at sites of medication injection, typically presenting in one of two forms, (1) those associated with intravenous infusion or (2) those related to intramuscular injection.[1]:123–4 Intra muscular injections may produce a ... | Injection site reaction | c0151735 | 1,901 | wikipedia | https://en.wikipedia.org/wiki/Injection_site_reaction | 2021-01-18T19:10:00 | {"mesh": ["D000075662"], "umls": ["C0151735"], "wikidata": ["Q6034307"]} |
Abortion in Cameroon is only legal if the abortion will save the woman's life, the pregnancy gravely endangers the woman's physical or mental health, or the pregnancy is a result of rape.[1]
## Statistics[edit]
In 1997, a survey in Yaoundé found 20 percent of women aged 20–29 had had at least one abortion.[2][3... | Abortion in Cameroon | None | 1,902 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Cameroon | 2021-01-18T18:34:08 | {"wikidata": ["Q24896140"]} |
## Description
Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).
Clinical Features
Elejalde et al. (1977) de... | ACROCEPHALOPOLYDACTYLOUS DYSPLASIA | c1860157 | 1,903 | omim | https://www.omim.org/entry/200995 | 2019-09-22T16:31:37 | {"mesh": ["C536203"], "omim": ["200995"], "orphanet": ["221054"], "synonyms": ["Alternative titles", "ELEJALDE SYNDROME"]} |
Black heel and palm
Other namesCalcaneal petechiae, Chromidrose plantaire, Post-traumatic punctate intraepidermal hemorrhage, Tache noir,[1] and Talon noir
SpecialtyDermatology
Black heel and palm is a skin condition characterized by a sudden shower of minute, black, punctate macules occurring most often on ... | Black heel and palm | None | 1,904 | wikipedia | https://en.wikipedia.org/wiki/Black_heel_and_palm | 2021-01-18T18:47:11 | {"umls": ["C0406178"], "wikidata": ["Q4922335"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is caused by homozygous mutation in the TDP1 gene (607198) on chromosome 14q31. One such family has been reported.
Description
Spinocerebellar ataxia with axonal neuropa... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 | c1846574 | 1,905 | omim | https://www.omim.org/entry/607250 | 2019-09-22T16:09:29 | {"doid": ["0090115"], "mesh": ["C537313"], "omim": ["607250"], "orphanet": ["94124"]} |
Alpha-gal allergy
Other namesRed meat allergy
Mammalian Meat Allergy (MMA)
SymptomsSymptoms
Durationunknown
Causesbites from certain species of ticks. (Predominantly the Lone Star tick.)
TreatmentDesensitization
Alpha-gal allergy — or mammalian meat allergy (MMA)[1] — is a type of red-meat allergy ch... | Alpha-gal allergy | None | 1,906 | wikipedia | https://en.wikipedia.org/wiki/Alpha-gal_allergy | 2021-01-18T18:50:34 | {"wikidata": ["Q16242785"]} |
PUNLMP (Papillary Urothelial Neoplasm of Low Malignant Potential)
Micrograph of a PUNLMP. Intermediate magnification. H&E stain.
SpecialtyUrology, pathology
Papillary urothelial neoplasm of low malignant potential (PUNLMP) is an exophytic (outward growing), (microscopically) nipple-shaped (or papillary) ... | Papillary urothelial neoplasm of low malignant potential | c1266010 | 1,907 | wikipedia | https://en.wikipedia.org/wiki/Papillary_urothelial_neoplasm_of_low_malignant_potential | 2021-01-18T19:01:56 | {"umls": ["C1266010", "C1518358"], "wikidata": ["Q7132990"]} |
This article is about the condition currently classified as CHED. For the condition previously classified as CHED1, see posterior polymorphous corneal dystrophy.
Congenital hereditary endothelial dystrophy
Other namesMaumenee corneal dystrophy[1]
A markedly opaque cornea due to corneal edema secondary to defecti... | Congenital hereditary endothelial dystrophy | c1857569 | 1,908 | wikipedia | https://en.wikipedia.org/wiki/Congenital_hereditary_endothelial_dystrophy | 2021-01-18T18:37:06 | {"gard": ["6196"], "mesh": ["C536439"], "umls": ["C1857569"], "orphanet": ["293603"], "wikidata": ["Q4127191"]} |
A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
*[v]: Vie... | Marshall syndrome | c0265235 | 1,909 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=560 | 2021-01-23T18:07:50 | {"gard": ["6984"], "mesh": ["C536025"], "omim": ["154780"], "umls": ["C0265235"], "icd-10": ["Q87.0"]} |
A number sign (#) is used with this entry because of evidence that combined pituitary hormone deficiency-3 (CPHD3) is caused by homozygous mutation in the LHX3 gene (601538) on chromosome 9q34.
For a discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).
Cli... | PITUITARY HORMONE DEFICIENCY, COMBINED, 3 | c3489787 | 1,910 | omim | https://www.omim.org/entry/221750 | 2019-09-22T16:28:52 | {"doid": ["9406"], "mesh": ["C536710"], "omim": ["221750"], "orphanet": ["231720"], "synonyms": ["DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM", "Alternative titles", "PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE", "Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spin... |
Barakat syndrome, also known as HDR syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal (kidney) disease. However, specific symptoms and severity can vary. About 65% of people with Barakat syndrome have all three of these features, while the others have various... | Barakat syndrome | c1840333 | 1,911 | gard | https://rarediseases.info.nih.gov/diseases/2911/barakat-syndrome | 2021-01-18T18:01:53 | {"mesh": ["C537907"], "omim": ["146255"], "umls": ["C1840333"], "orphanet": ["2237"], "synonyms": ["Hypoparathyroidism, sensorineural deafness, and renal dysplasia", "HDR syndrome", "Nephrosis, nerve deafness, and hypoparathyroidism"]} |
Anomalous left coronary artery from the pulmonary artery
Other namesBland-White-Garland syndrome
Possible communication between left coronary artery and pulmonary artery in a 45-year-old woman with Bland-White-Garland syndrome.
SpecialtyMedical genetics
Anomalous left coronary artery from the pulmonary art... | Anomalous left coronary artery from the pulmonary artery | c1735886 | 1,912 | wikipedia | https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery | 2021-01-18T19:00:30 | {"mesh": ["D063748"], "icd-10": ["Q24.5"], "wikidata": ["Q881480"]} |
Break in a rib bone
Rib fracture
Other namesBroken rib, cracked rib
An X ray showing multiple old fractured ribs of the person's left side as marked by the oval.
SpecialtyEmergency medicine
SymptomsChest pain that is worse with breathing in[1]
ComplicationsPulmonary contusion, pneumothorax, pneumonia[1... | Rib fracture | c0035522 | 1,913 | wikipedia | https://en.wikipedia.org/wiki/Rib_fracture | 2021-01-18T19:02:59 | {"mesh": ["D012253"], "icd-9": ["807.1", "807.0"], "icd-10": ["S22.3", "S22.4"], "wikidata": ["Q1974017"]} |
Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a... | Oligoastrocytoma | c0280793 | 1,914 | gard | https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma | 2021-01-18T17:58:37 | {"mesh": ["D009837"], "umls": ["C0280793"], "orphanet": ["251656"], "synonyms": []} |
For a general phenotypic description and a discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300).
Mapping
Anttila et al. (2008) provided evidence for a migraine susceptibility locus on chromosome 10q22-q23. The authors used alternative migraine phenotyping methods, including latent-class anal... | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12 | c2673676 | 1,915 | omim | https://www.omim.org/entry/611706 | 2019-09-22T16:03:03 | {"omim": ["611706"]} |
Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
## Epidemiology
Prevalence of this form of the dis... | Vitamin B12-unresponsive methylmalonic acidemia type mut- | c1855114 | 1,916 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79312 | 2021-01-23T17:51:02 | {"mesh": ["C565390"], "omim": ["251000"], "icd-10": ["E71.1"], "synonyms": ["Partial deficiency of methylmalonyl-CoA mutase", "Vitamin B12-unresponsive methylmalonic aciduria type mut-"]} |
## Cloning and Expression
Kobilka et al. (1987) reported the cloning and complete nucleotide sequence of the cDNA for human beta-2-adrenergic receptor. The deduced amino acid sequence (413 residues) encodes a protein containing 7 clusters of hydrophobic amino acids suggestive of membrane-spanning domains. While the... | BETA-2-ADRENERGIC RECEPTOR | c1862282 | 1,917 | omim | https://www.omim.org/entry/109690 | 2019-09-22T16:44:28 | {"omim": ["109690"], "synonyms": ["Alternative titles", "BETA-ADRENERGIC RECEPTOR", "BETA-2-ADRENOCEPTOR", "ADRB2R"]} |
A number sign (#) is used with this entry because of evidence that bronchiectasis with or without elevated sweat chloride (BESC3) can be caused by mutation in the gene encoding the gamma subunit of the epithelial sodium channel (SCNN1G; 600761).
For discussion of genetic heterogeneity of bronchiectasis with or witho... | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 | c0339985 | 1,918 | omim | https://www.omim.org/entry/613071 | 2019-09-22T15:59:53 | {"doid": ["9563", "0080528"], "omim": ["613071"], "orphanet": ["60033"], "synonyms": ["Alternative titles", "CYSTIC FIBROSIS-LIKE SYNDROME"]} |
A number sign (#) is used with this entry because hemochromatosis type 1 (HFE1) is caused by homozygous or compound heterozygous mutation in the HFE gene (613609) on chromosome 6p22.
Description
Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron... | HEMOCHROMATOSIS, TYPE 1 | c3469186 | 1,919 | omim | https://www.omim.org/entry/235200 | 2019-09-22T16:27:12 | {"doid": ["0111029"], "omim": ["235200"], "icd-9": ["275.01"], "icd-10": ["E83.110"], "orphanet": ["465508"], "synonyms": ["HEMOCHROMATOSIS", "Symptomatic form of classic hemochromatosis", "HEMOCHROMATOSIS, HEREDITARY", "Symptomatic form of HFE-related hereditary hemochromatosis", "Alternative titles"], "genereviews": ... |
A number sign (#) is used with this entry because of evidence that familial cold autoinflammatory syndrome-4 (FCAS4) is caused by heterozygous mutation in the NLRC4 gene (606831) on chromosome 2p22. One such family has been reported.
For a phenotypic description and a discussion of genetic heterogeneity of familial ... | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 | c0343068 | 1,920 | omim | https://www.omim.org/entry/616115 | 2019-09-22T15:49:57 | {"doid": ["0090065"], "mesh": ["D056587"], "omim": ["616115"], "orphanet": ["47045"]} |
Pulmonary sequestration
Other namesBronchopulmonary sequestration or cystic lung lesion
SpecialtyPulmonology
A pulmonary sequestration is a medical condition wherein a piece of tissue that ultimately develops into lung tissue is not attached to the pulmonary arterial blood supply, as is the case in normally ... | Pulmonary sequestration | c0006288 | 1,921 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary_sequestration | 2021-01-18T18:35:51 | {"gard": ["4593"], "mesh": ["D001998"], "umls": ["C0006288"], "icd-9": ["748.5"], "icd-10": ["Q33.2"], "orphanet": ["3161"], "wikidata": ["Q688890"]} |
Group of inherited metabolic disorders
This article is about the medical condition. For other uses, see Porphyry (disambiguation).
Not to be confused with Porphyra.
Porphyria
Left figure is urine on the first day while the right figure is urine after three days of sun exposures showing the classic change in ... | Porphyria | c0235387 | 1,922 | wikipedia | https://en.wikipedia.org/wiki/Porphyria | 2021-01-18T18:43:36 | {"gard": ["10353"], "mesh": ["D011164"], "umls": ["C0235387"], "orphanet": ["738"], "wikidata": ["Q271759"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (April 2015)
An atrioventricular fistula is a fistula between an atrium and a ventricle of the heart.
Formation of an AVF is a potential complication... | Atrioventricular fistula | c0340330 | 1,923 | wikipedia | https://en.wikipedia.org/wiki/Atrioventricular_fistula | 2021-01-18T19:04:00 | {"umls": ["C0340330"], "icd-10": ["Q21.2"], "wikidata": ["Q4817566"]} |
Duodenal cancer
Endoscopic image of adenocarcinoma of duodenum seen in the post-bulbar duodenum
SpecialtyGastroenterology, general surgery, oncology
Symptomsvomiting blood, blood in the stool
Duodenal cancer is a cancer in the first section of the small intestine known as the duodenum. Cancer of the du... | Duodenal cancer | c0541912 | 1,924 | wikipedia | https://en.wikipedia.org/wiki/Duodenal_cancer | 2021-01-18T18:43:59 | {"mesh": ["D004379"], "umls": ["C0541912", "C0153426"], "wikidata": ["Q1266395"]} |
A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth def... | Obesity due to prohormone convertase I deficiency | c1833053 | 1,925 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71528 | 2021-01-23T18:28:14 | {"mesh": ["C563423"], "omim": ["600955"], "icd-10": ["E66.8"], "synonyms": ["PCI deficiency"]} |
Cerebellar hypoplasia with endosteal sclerosis appears to have been described first by Stoll et al. (1986). The parents in this case were consanguineous.
Charrow et al. (1991) described a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented w... | CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS | c1859301 | 1,926 | omim | https://www.omim.org/entry/213002 | 2019-09-22T16:29:52 | {"mesh": ["C535353"], "omim": ["213002"], "orphanet": ["85186"]} |
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such ... | Non-distal monosomy 10q | None | 1,927 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1581 | 2021-01-23T17:48:47 | {"icd-10": ["Q93.5"], "synonyms": ["Non-distal deletion 10q", "Non-telomeric monosomy 10q"]} |
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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.... | Conjunctival concretion | c0155162 | 1,928 | wikipedia | https://en.wikipedia.org/wiki/Conjunctival_concretion | 2021-01-18T18:31:03 | {"umls": ["C0155162"], "wikidata": ["Q1410676"]} |
Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordinat... | Combined oxidative phosphorylation defect type 15 | c3554182 | 1,929 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319524 | 2021-01-23T17:16:36 | {"omim": ["614947"], "icd-10": ["E88.8"], "synonyms": ["COXPD15"]} |
PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
## Epidemiology
Estimated prevalence at birth of PFIC types 1-3 varies between 1/50,000 and 1/100,0... | Progressive familial intrahepatic cholestasis type 1 | c4551898 | 1,930 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79306 | 2021-01-23T18:27:32 | {"gard": ["9802"], "mesh": ["C535933"], "omim": ["211600"], "icd-10": ["K76.8"], "synonyms": ["Byler disease", "FIC1 deficiency", "PFIC1"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (April 2014)
Coronal Image of a TOFI and a Normal Control
TOFI[1][2] (thin-outside-fat-inside) is used to describe lean individuals with a disproportiona... | TOFI | None | 1,931 | wikipedia | https://en.wikipedia.org/wiki/TOFI | 2021-01-18T18:35:50 | {"wikidata": ["Q7670962"]} |
International Convention against Doping in SportTypeDoping in sport
Drafted19 October 2005
Signed19 October 2005
LocationParis, France
Effective1 February 2007
Condition30 ratifications
Parties189[1]
DepositaryDirector-General of UNESCO
LanguagesArabic, English, French, Russian, and Spanish
The I... | International Convention against Doping in Sport | None | 1,932 | wikipedia | https://en.wikipedia.org/wiki/International_Convention_against_Doping_in_Sport | 2021-01-18T18:40:49 | {"wikidata": ["Q15991223"]} |
Tachyphylaxis (Greek ταχύς, tachys, "rapid", and φύλαξις, phylaxis, "protection") is a medical term describing an acute, sudden decrease in response to a drug after its administration;[1] i.e. a rapid and short-term onset of drug tolerance. It can occur after an initial dose or after a series of small doses. Increasi... | Tachyphylaxis | None | 1,933 | wikipedia | https://en.wikipedia.org/wiki/Tachyphylaxis | 2021-01-18T18:48:39 | {"mesh": ["D013618"], "wikidata": ["Q2464757"]} |
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
## Epidemiology
Annual incidence is between 1/100,000 and 1/1,000,000 live births depending on the population.
... | T-B+ severe combined immunodeficiency due to JAK3 deficiency | c1833275 | 1,934 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35078 | 2021-01-23T17:54:35 | {"mesh": ["C563440"], "omim": ["600802"], "icd-10": ["D81.2"], "synonyms": ["T-B+ SCID due to JAK3 deficiency"]} |
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
## Epidemiology
The exact prevalence remains unknown.
## Clinical description
In the majority of cases, the disease manifests in childhood a... | Genetic recurrent myoglobinuria | c1849386 | 1,935 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99845 | 2021-01-23T18:44:56 | {"mesh": ["C564832"], "omim": ["268200", "550500"], "icd-10": ["R82.1"]} |
Myiasis is a parasitic infestation caused by larvae of several fly species. Diagnosis and treatment are generally quite simple. This infestation is, however, rarely seen in the vulvar area. Infestation of vulvar area with larvae and maggots is called vulvar myiasis. Very few cases have been described in literature.[1... | Vulvar myiasis | None | 1,936 | wikipedia | https://en.wikipedia.org/wiki/Vulvar_myiasis | 2021-01-18T18:32:00 | {"wikidata": ["Q7943638"]} |
A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.
## Epidemiology
To date, m... | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | c4225208 | 1,937 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369891 | 2021-01-23T18:44:30 | {"omim": ["616789"], "icd-10": ["Q87.8"], "synonyms": ["MED13L-related intellectual disability syndrome"]} |
A number sign (#) is used with this entry because susceptibility to this platelet-type bleeding disorder (BDPLT13) is conferred by heterozygous mutation in the gene encoding the thromboxane A2 receptor (TBXA2R; 188070) on chromosome 19p13.
Description
Susceptibility to platelet-type bleeding disorder-13 is due to a... | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO | c3279614 | 1,938 | omim | https://www.omim.org/entry/614009 | 2019-09-22T15:56:46 | {"omim": ["614009"], "orphanet": ["220443"], "synonyms": ["Alternative titles", "BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR"]} |
An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.
## Epidemiology
The prevalence is unknown. This form accounts for approximately 60% of AxD cases.
##... | Alexander disease type I | c0270726 | 1,939 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363717 | 2021-01-23T17:56:02 | {"mesh": ["D038261"], "omim": ["203450"], "icd-10": ["E75.2"], "synonyms": ["AxD type I"]} |
For a phenotypic description and a discussion of genetic heterogeneity of abdominal aortic aneurysm, see AAA1 (100070).
Mapping
Bown et al. (2011) performed a genomewide association study in 1,866 patients with abdominal aortic aneurysm (AAA) and 5,435 controls, and performed replication analysis of 9 promising sig... | AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 4 | c0162871 | 1,940 | omim | https://www.omim.org/entry/614375 | 2019-09-22T15:55:27 | {"doid": ["7693"], "mesh": ["D017544"], "omim": ["100070", "614375"], "orphanet": ["86"], "synonyms": []} |
Codependency is a concept that attempts to characterize imbalanced relationships where one person enables another person's addiction, poor mental health, immaturity, irresponsibility, or under-achievement.[1] Definitions of codependency vary, but typically include high self-sacrifice, a focus on others' needs, suppre... | Codependency | c0086025 | 1,941 | wikipedia | https://en.wikipedia.org/wiki/Codependency | 2021-01-18T18:51:26 | {"mesh": ["D017004"], "wikidata": ["Q21109"]} |
Epidermolysis bullosa simplex due to exophilin 5 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hy... | Epidermolysis bullosa simplex due to exophilin 5 deficiency | c3554367 | 1,942 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=412189 | 2021-01-23T19:02:35 | {"omim": ["615028"], "icd-10": ["Q81.0"], "synonyms": ["EBS-AR exophilin 5"]} |
Phytophotodermatitis
Phytophotodermatitis caused by lime
SpecialtyDermatology
Phytophotodermatitis, also known as berloque dermatitis[1][2][3] or margarita photodermatitis,[4][5] is a cutaneous phototoxic inflammatory reaction resulting from contact with a light-sensitizing botanical agent followed by exposu... | Phytophotodermatitis | c0521480 | 1,943 | wikipedia | https://en.wikipedia.org/wiki/Phytophotodermatitis | 2021-01-18T18:35:42 | {"umls": ["CL505184"], "icd-10": ["L56.2"], "wikidata": ["Q1660485"]} |
Feline cognitive dysfunction (FCD) is a cognitive disease prevalent in cats, directly related to the brain aging, leading to changes in awareness, deficits in learning and memory, and decreased responsiveness to stimuli. It is also known as cognitive dysfunction syndrome (CDS). Alzheimer's disease and dementia in... | Feline cognitive dysfunction | None | 1,944 | wikipedia | https://en.wikipedia.org/wiki/Feline_cognitive_dysfunction | 2021-01-18T18:49:44 | {"wikidata": ["Q28456883"]} |
Anesthesia dolorosa or anaesthesia dolorosa or deafferentation pain is pain felt in an area (usually of the face) which is completely numb to touch. The pain is described as constant, burning, aching or severe. It can be a side effect of surgery involving any part of the trigeminal system, and occurs after 1–4% of pe... | Anesthesia dolorosa | c0474367 | 1,945 | wikipedia | https://en.wikipedia.org/wiki/Anesthesia_dolorosa | 2021-01-18T18:59:15 | {"mesh": ["D061221"], "umls": ["C0474367"], "wikidata": ["Q483872"]} |
Isosporiasis (also known as cystoisosporiasis) is an exclusively human parasitosis occurring mainly in the tropics and subtropics, due to infection with Isospora belli (through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limitin... | Isosporiasis | c0311386 | 1,946 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=472 | 2021-01-23T17:17:18 | {"gard": ["3033"], "mesh": ["D021865"], "umls": ["C0311386"], "icd-10": ["A07.3"], "synonyms": ["Cystoisosporiasis"]} |
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: "Botryomycosis" – news · newspapers · books · scholar · JSTOR (October 2008) (Learn how and when to remove this template... | Botryomycosis | c2937266 | 1,947 | wikipedia | https://en.wikipedia.org/wiki/Botryomycosis | 2021-01-18T19:00:36 | {"umls": ["C2937266"], "wikidata": ["Q4948827"]} |
Saddle sore
SpecialtySports medicine
SymptomsSkin abrasion
CausesHorse riding or cycling
PreventionReducing friction
This article needs additional citations for verification. Relevant discussion may be found on the talk page. Please help improve this article by adding citations to reliable sources. Unsou... | Saddle sore | c0263557 | 1,948 | wikipedia | https://en.wikipedia.org/wiki/Saddle_sore | 2021-01-18T19:04:52 | {"umls": ["C0263557"], "wikidata": ["Q2612029"]} |
Psychological disorder proposed by professor Makoto Natsume
A waitress at a restaurant is expected to exhibit positivity, such as smiling and expressing positive emotion towards customers
Smile mask syndrome (Japanese: スマイル仮面症候群, Hepburn: sumairu kamen shōkōgun), abbreviated SMS, is a psychological disorder propose... | Smile mask syndrome | None | 1,949 | wikipedia | https://en.wikipedia.org/wiki/Smile_mask_syndrome | 2021-01-18T18:38:46 | {"wikidata": ["Q7544659"]} |
Ischial bursitis (also known as weaver's bottom) is inflammation of the synovial bursa located between gluteus maximus muscle and ischial tuberosity.[1]
It is usually caused by prolonged sitting on a hard surface.
## References[edit]
1. ^ Fauci, Anthony (2010). Harrison's Rheumatology, Second Edition. McGraw-Hil... | Ischial bursitis | c0410076 | 1,950 | wikipedia | https://en.wikipedia.org/wiki/Ischial_bursitis | 2021-01-18T18:45:30 | {"wikidata": ["Q6079234"]} |
Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.
*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adre... | Phakomatosis pigmentokeratotica | c2931658 | 1,951 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2874 | 2021-01-23T17:11:27 | {"gard": ["4311"], "mesh": ["C537893"], "umls": ["C2931658"], "icd-10": ["Q85.8"]} |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare condition which causes joint abnormalities that begin at birth or during early childhood. The name comes from the main symptoms, including permanent bending of the fingers (camptodactyly), joint disease (arthropathy), and changes in the hip jo... | Camptodactyly arthropathy coxa vara pericarditis syndrome | c1859690 | 1,952 | gard | https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome | 2021-01-18T18:01:39 | {"mesh": ["C537560"], "omim": ["208250"], "umls": ["C1859690"], "orphanet": ["2848"], "synonyms": ["Arthropathy camptodactyly syndrome", "Pericarditis arthropathy camptodactyly syndrome", "PAC syndrome", "Fibrosing serositis, familial", "Camptodactyly arthropathy pericarditis syndrome", "Congenital familial hypertrophi... |
Congenital lip pit
SpecialtyOral & Maxillofacial Surgery
Usual onsetAt birth
TreatmentFistulectomy
PrognosisExcellent
A congenital lip pit or lip sinus is a congenital disorder characterized by the presence of pits and possibly associated fistulas in the lips. They are often hereditary, and may occur alo... | Congenital lip pit | c0158670 | 1,953 | wikipedia | https://en.wikipedia.org/wiki/Congenital_lip_pit | 2021-01-18T18:43:20 | {"umls": ["C0158670", "C0341059"], "wikidata": ["Q5160444"]} |
Phimosis
An erect penis with a case of phimosis
Pronunciation
* /fɪˈmoʊsɪs/ or /faɪˈmoʊsɪs/[1][2]
SpecialtyUrology
SymptomsUnable to pull the foreskin back past the glans[3]
ComplicationsBalanitis,[3] penile cancer, urinary retention
Usual onsetNormal at birth[3]
DurationTypically resolves b... | Phimosis | c0031538 | 1,954 | wikipedia | https://en.wikipedia.org/wiki/Phimosis | 2021-01-18T18:58:33 | {"mesh": ["D010688"], "umls": ["C0031538"], "wikidata": ["Q382641"]} |
Diastrophic dysplasia is a disorder of cartilage and bone development. Diastrophic dysplasia is characterized by shortened arms and legs, spinal deformities, hitchhiker thumbs, joint contractures, and joint pain (osteoarthritis). Joint contractures and spinal deformity tend to worsen with age. Mental development ... | Diastrophic dysplasia | c0220726 | 1,955 | gard | https://rarediseases.info.nih.gov/diseases/6275/diastrophic-dysplasia | 2021-01-18T18:00:53 | {"mesh": ["C536170"], "omim": ["222600"], "orphanet": ["628"], "synonyms": ["DTD", "DD", "Diastrophic dwarfism"]} |
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns wit... | Proteus syndrome | c0085261 | 1,956 | medlineplus | https://medlineplus.gov/genetics/condition/proteus-syndrome/ | 2021-01-27T08:24:35 | {"gard": ["7475"], "mesh": ["D016715"], "omim": ["176920"], "synonyms": []} |
Autoimmune gastrointestinal dysmotility (AGID) is a type of dysautonomia that may be idiopathic (cause unknown) or associated with cancer elsewhere in the body, most commonly small cell lung cancer. Signs and symptoms may include early satiety (feeling full quickly), nausea, vomiting, bloating, diarrhea, constipation... | Autoimmune gastrointestinal dysmotility | None | 1,957 | gard | https://rarediseases.info.nih.gov/diseases/12063/autoimmune-gastrointestinal-dysmotility | 2021-01-18T18:01:59 | {"synonyms": ["AGID"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to epidermodysplasia verruciformis-1 (EV1) is conferred by homozygous or compound heterozygous mutation in the TMC6 gene (605828) on chromosome 17q25.
Description
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associate... | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 | c0014522 | 1,958 | omim | https://www.omim.org/entry/226400 | 2019-09-22T16:28:12 | {"mesh": ["D004819"], "omim": ["226400"], "orphanet": ["302"], "synonyms": ["Alternative titles", "EPIDERMODYSPLASIA VERRUCIFORMIS"]} |
Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
## Epidemiology
To date, it has been reported in 4 patients from... | Combined immunodeficiency due to STIM1 deficiency | c2748557 | 1,959 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317430 | 2021-01-23T17:43:59 | {"mesh": ["C557827"], "omim": ["612783"], "icd-10": ["D81.8"], "synonyms": ["CID due to STIM1 deficiency"]} |
Progressive pseudorheumatoid disyplasia (PPD) is a disorder of bone and cartilage that affects many joints. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger... | Progressive pseudorheumatoid dysplasia | c0432215 | 1,960 | gard | https://rarediseases.info.nih.gov/diseases/9184/progressive-pseudorheumatoid-dysplasia | 2021-01-18T17:58:08 | {"mesh": ["C535387"], "omim": ["208230"], "orphanet": ["1159"], "synonyms": ["Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome", "Progressive pseudorheumatoid arthropathy of childhood", "PPAC", "Spondyloepiphyseal dysplasia tarda - progressive arthropathy", "PPD", "SEDT-PA", "Arthropathy, progressive... |
Excessive internet use that causes psychological disorders.
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... | Internet addiction disorder | None | 1,961 | wikipedia | https://en.wikipedia.org/wiki/Internet_addiction_disorder | 2021-01-18T18:35:19 | {"wikidata": ["Q831735"]} |
A number sign (#) is used with this entry because of evidence that chitotriosidase deficiency (CHITD) is caused by homozygous or compound heterozygous mutation in the CHIT1 gene (600031) on chromosome 1q32.
Clinical Features
Hollak et al. (1994) observed absent plasma chitotriosidase activity in 3 control subjects ... | CHITOTRIOSIDASE DEFICIENCY | c3279902 | 1,962 | omim | https://www.omim.org/entry/614122 | 2019-09-22T15:56:27 | {"omim": ["614122"]} |
A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degenerat... | Autosomal dominant neovascular inflammatory vitreoretinopathy | c0242852 | 1,963 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329211 | 2021-01-23T18:21:23 | {"mesh": ["D018630"], "omim": ["193235"], "icd-10": ["H35.2"], "synonyms": ["ADNIV"]} |
Eye disease involving splitting of the retina
Retinoschisis
This condition is usually inherited in an X-linked recessive manner.
SpecialtyOphthalmology
Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory layers, usually in the outer plexiform layer. Retinosch... | Retinoschisis | c0152439 | 1,964 | wikipedia | https://en.wikipedia.org/wiki/Retinoschisis | 2021-01-18T18:38:55 | {"mesh": ["D041441"], "umls": ["C0152439"], "wikidata": ["Q1049881"]} |
Lipoid congenital adrenal hyperplasia
Other namesCongenital lipoid adrenal hyperplasia due to StAR deficency[1]
Lipoid congenital adrenal hyperplasia is inherited in an autosomal recessive manner
Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal for... | Lipoid congenital adrenal hyperplasia | c0342474 | 1,965 | wikipedia | https://en.wikipedia.org/wiki/Lipoid_congenital_adrenal_hyperplasia | 2021-01-18T18:45:38 | {"mesh": ["C537027"], "orphanet": ["90790"], "wikidata": ["Q4262866"]} |
Copropraxia is a tic consisting of involuntarily performing obscene or forbidden gestures, or inappropriate touching.[1] Copropraxia comes from the Greek κόπρος (kópros), meaning "feces", and πρᾶξις (prâxis), meaning "action". Copropraxia is a rare characteristic of Tourette syndrome.[1]
Related terms are coprol... | Copropraxia | None | 1,966 | wikipedia | https://en.wikipedia.org/wiki/Copropraxia | 2021-01-18T18:40:37 | {"wikidata": ["Q1428295"]} |
Opsismodysplasia
Other namesOPSMD [1]
SpecialtyOrthopedic
Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development) first described by Zonana and associates in 1977, and designated under its current name by Maroteaux (1984). Derived from the Greek opsismos ("... | Opsismodysplasia | c0432219 | 1,967 | wikipedia | https://en.wikipedia.org/wiki/Opsismodysplasia | 2021-01-18T19:00:57 | {"gard": ["4098"], "mesh": ["C537122"], "umls": ["C0432219"], "icd-10": ["Q77.8"], "orphanet": ["2746"], "wikidata": ["Q7098730"]} |
Hypophysitis
Pituitary gland is located at the base of the human brain.
SpecialtyEndocrinology
Hypophysitis refers to an inflammation of the pituitary gland. Hypophysitis is rare and not fully understood.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
... | Hypophysitis | c0342409 | 1,968 | wikipedia | https://en.wikipedia.org/wiki/Hypophysitis | 2021-01-18T18:34:31 | {"mesh": ["D000072659"], "umls": ["C0342409"], "wikidata": ["Q4120169"]} |
## Clinical Features
Kuang et al. (2001) identified a novel bleeding disorder inherited as an autosomal dominant trait in a family from East Texas. The disorder was characterized clinically by easy bruising, life-threatening bleeding with trauma or surgery, and menorrhagia in affected women. Laboratory studies ... | BLEEDING DISORDER, EAST TEXAS TYPE | c1853831 | 1,969 | omim | https://www.omim.org/entry/605913 | 2019-09-22T16:10:50 | {"mesh": ["C565275"], "omim": ["605913"], "orphanet": ["391320"], "synonyms": ["Alternative titles", "BDET"]} |
A number sign (#) is used with this entry because of evidence that atelosteogenesis type III (AO3) is caused by heterozygous mutation in the FLNB gene (603381), which encodes filamin B, on chromosome 3p14.3.
For a discussion of genetic heterogeneity of atelosteogenesis, see AO1 (108720).
Clinical Features
Stern et... | ATELOSTEOGENESIS, TYPE III | c3668942 | 1,970 | omim | https://www.omim.org/entry/108721 | 2019-09-22T16:44:42 | {"doid": ["0050648"], "mesh": ["C579928"], "omim": ["108721"], "orphanet": ["56305"], "synonyms": ["Alternative titles", "AOIII"], "genereviews": ["NBK2534"]} |
Chronic active EBV infection
Other namesCAEBV
Chronic active EBV infection or in its expanded form, chronic active Epstein–Barr virus infection is a very rare and often fatal complication of Epstein–Barr virus (EBV) infection that most often occurs in children or adolescents of Asian or South American lineage,... | Chronic active EBV infection | c4289792 | 1,971 | wikipedia | https://en.wikipedia.org/wiki/Chronic_active_EBV_infection | 2021-01-18T19:09:26 | {"umls": ["CL504910"], "wikidata": ["Q17148477"]} |
A saphena varix, or a saphenous varix is a dilation of the saphenous vein at its junction with the femoral vein in the groin. It is a common surgical problem, and patients may present with groin swelling.
## Clinical features[edit]
It displays a cough impulse and may be mistaken for a femoral hernia. However it has... | Saphena varix | None | 1,972 | wikipedia | https://en.wikipedia.org/wiki/Saphena_varix | 2021-01-18T18:49:26 | {"wikidata": ["Q7420955"]} |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this templat... | External auditory canal atresia-vertical talus-hypertelorism syndrome | c2930867 | 1,973 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3023 | 2021-01-23T18:33:33 | {"gard": ["4638"], "mesh": ["C535290"], "omim": ["133705"], "umls": ["C2930867"], "icd-10": ["Q87.8"], "synonyms": ["Rasmussen-Johnsen-Thomsen syndrome"]} |
Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.
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... | Neutropenia-monocytopenia-deafness syndrome | None | 1,974 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2690 | 2021-01-23T18:02:12 | {"gard": ["3982"], "icd-10": ["D82.8"], "synonyms": ["Neutropenia-monocytopenia-hearing loss syndrome"]} |
Eosinophilic granulomatosis with polyangiitis (EGPA)
Other namesChurg–Strauss syndrome, allergic angiitis and granulomatosis.[1]
Micrograph showing an eosinophilic vasculitis consistent with eosinophilic granulomatosis with polyangiitis. H&E stain. One of the American College of Rheumatology criteria for EGPA is ... | Eosinophilic granulomatosis with polyangiitis | c0008728 | 1,975 | wikipedia | https://en.wikipedia.org/wiki/Eosinophilic_granulomatosis_with_polyangiitis | 2021-01-18T18:57:32 | {"gard": ["5776", "6111"], "mesh": ["D015267"], "umls": ["C0008728"], "icd-9": ["447.6"], "orphanet": ["183"], "wikidata": ["Q32811"]} |
## Description
Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
### Genetic Heterogeneity of Susceptibil... | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 | c0205747 | 1,976 | omim | https://www.omim.org/entry/155600 | 2019-09-22T16:38:29 | {"mesh": ["D004416"], "omim": ["155600"], "icd-9": ["172.9", "172"], "icd-10": ["C43", "C43.9"], "orphanet": ["404560", "618"], "synonyms": ["Alternative titles", "MELANOMA, CUTANEOUS MALIGNANT", "MELANOMA, MALIGNANT", "FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME", "MELANOMA, FAMILIAL", "DYSPLASTIC NEVUS SYNDROM... |
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: "Synaptopathy" – news · newspapers · books · scholar · JSTOR (November 2012) (Learn how and when to remove this template... | Synaptopathy | None | 1,977 | wikipedia | https://en.wikipedia.org/wiki/Synaptopathy | 2021-01-18T18:31:43 | {"wikidata": ["Q7662053"]} |
Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can ... | Ankyrin-B syndrome | c1833154 | 1,978 | medlineplus | https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome/ | 2021-01-27T08:25:10 | {"gard": ["13294"], "mesh": ["C563428"], "omim": ["600919"], "synonyms": []} |
A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.
## Epidemiology
Less than ten cases have been reported so far.
## Clinical description
Main clinical features include craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hyperteloris... | Osteoglosphonic dysplasia | c0432283 | 1,979 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2645 | 2021-01-23T17:52:02 | {"gard": ["4142"], "mesh": ["C536050"], "omim": ["166250"], "umls": ["C0432283"], "icd-10": ["Q87.1"], "synonyms": ["Osteoglophonic dwarfism"]} |
Pyridoxine-dependent epilepsy
Other namesPyridoxine-dependent seizure (PDS), vitamin B6 responsive epilepsy
Pyridoxine
SpecialtyNeurology
Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder characterized by intractable seizures in the prenatal and neonatal period. The disorder was first recogniz... | Pyridoxine-dependent epilepsy | c1849508 | 1,980 | wikipedia | https://en.wikipedia.org/wiki/Pyridoxine-dependent_epilepsy | 2021-01-18T18:30:16 | {"gard": ["9298"], "mesh": ["C536254"], "umls": ["C1849508", "C1291560"], "orphanet": ["3006"], "wikidata": ["Q7263591"]} |
This article is about the psychedelic experience. For the 2020 comedy film, see Bad Trip (film).
Part of a series on
Psychedelia
Arts
* Psychedelic art
* Algorithmic art
* Cyberdelic
* Diffraction
* Fractal art
* Liquid light show
* LSD art
* Paisley
* Phosphene
* Psychedeli... | Bad trip | None | 1,981 | wikipedia | https://en.wikipedia.org/wiki/Bad_trip | 2021-01-18T18:55:14 | {"icd-9": ["305.3"], "icd-10": ["F16.0"], "wikidata": ["Q622106"]} |
This article's lead section may be too short to adequately summarize its key points. Please consider expanding the lead to provide an accessible overview of all important aspects of the article. (December 2015)
Chronic neutrophilic leukemia
Other namesCNL[1]
SpecialtyHematology and oncology
Chronic ... | Chronic neutrophilic leukemia | c0023481 | 1,982 | wikipedia | https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia | 2021-01-18T19:02:56 | {"gard": ["10585"], "mesh": ["D015467"], "umls": ["C0023481"], "icd-9": ["205.1"], "orphanet": ["86829"], "wikidata": ["Q1088057"]} |
Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other par... | Lissencephaly with cerebellar hypoplasia | c0796089 | 1,983 | medlineplus | https://medlineplus.gov/genetics/condition/lissencephaly-with-cerebellar-hypoplasia/ | 2021-01-27T08:24:59 | {"gard": ["3277"], "mesh": ["C537848"], "omim": ["257320", "611603"], "synonyms": []} |
Deep dyslexia is a form of dyslexia that disrupts reading processes. Deep dyslexia may occur as a result of a head injury, stroke, disease, or operation.[1] This injury results in the occurrence of semantic errors during reading and the impairment of nonword reading.[2][3]
The term dyslexia comes from the Greek wor... | Deep dyslexia | c0454592 | 1,984 | wikipedia | https://en.wikipedia.org/wiki/Deep_dyslexia | 2021-01-18T18:56:50 | {"umls": ["C0454592"], "wikidata": ["Q5250381"]} |
Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions.
## Epidemiology
Prevalence is unknown and only a few cases, both sporadic and familial, have been described in the literature.
## Clinical description
The disease manifests duri... | Bullous lichen planus | c0023648 | 1,985 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33408 | 2021-01-23T18:27:21 | {"umls": ["C0023648"], "icd-10": ["L43.1"]} |
Pulled hamstring
Two images of the same strain. One of the pictures was shot through a mirror.
Straining of the hamstring, also known as a pulled hamstring, is defined as an excessive stretch or tear of muscle fibers and related tissues. Hamstring injuries are common in athletes participating in many sports. T... | Pulled hamstring | c0434423 | 1,986 | wikipedia | https://en.wikipedia.org/wiki/Pulled_hamstring | 2021-01-18T18:54:09 | {"umls": ["C0434423"], "wikidata": ["Q359090"]} |
A number sign (#) is used with this entry because of evidence that craniolenticulosutural dysplasia (CLSD) is caused by homozygous mutation in the SEC23A gene (610511) on chromosome 14q21.
Description
Craniolenticulosutural dysplasia is an autosomal recessive disorder characterized by facial dysmorphism, late-c... | CRANIOLENTICULOSUTURAL DYSPLASIA | c1843042 | 1,987 | omim | https://www.omim.org/entry/607812 | 2019-09-22T16:08:43 | {"doid": ["0070307"], "mesh": ["C564332"], "omim": ["607812"], "orphanet": ["50814"], "synonyms": ["Alternative titles", "BOYADJIEV-JABS SYNDROME"]} |
Von Graefe's sign
Differential diagnosisexophthalmic goiter
Von Graefe's sign is the lagging of the upper eyelid on downward rotation of the eye, indicating exophthalmic goiter (Graves' Disease).[1] It is a dynamic sign, whereas lid lag is a static sign which may also be present in cicatricial eyelid retractio... | Von Graefe's sign | c0278217 | 1,988 | wikipedia | https://en.wikipedia.org/wiki/Von_Graefe%27s_sign | 2021-01-18T18:37:25 | {"wikidata": ["Q913912"]} |
Lysosomal acid lipase deficiency
Other namesWolman disease
LAL-D has an autosomal recessive pattern of inheritance.
SpecialtyMedical Genetics, Hepatology
Lysosomal acid lipase deficiency (LAL deficiency or LAL-D), is an autosomal recessive inborn error of metabolism that results in the body not produci... | Lysosomal acid lipase deficiency | c0043208 | 1,989 | wikipedia | https://en.wikipedia.org/wiki/Lysosomal_acid_lipase_deficiency | 2021-01-18T19:10:18 | {"gard": ["7899"], "mesh": ["D015223"], "umls": ["C0043208"], "icd-9": ["272.7"], "orphanet": ["75233"], "wikidata": ["Q6710283"]} |
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abn... | Norrie disease | c0266526 | 1,990 | gard | https://rarediseases.info.nih.gov/diseases/7224/norrie-disease | 2021-01-18T17:58:40 | {"mesh": ["C537849"], "omim": ["310600"], "orphanet": ["649"], "synonyms": ["Atrophia bulborum hereditaria", "Pseudoglioma", "Episkopi blindness", "Norrie syndrome", "Norrie-Warburg syndrome", "Anderson-Warburg syndrome", "NDP", "Fetal iritis syndrome"]} |
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be chall... | Thrombotic storm | None | 1,991 | wikipedia | https://en.wikipedia.org/wiki/Thrombotic_storm | 2021-01-18T18:45:46 | {"wikidata": ["Q7798346"]} |
Index of articles associated with the same name
This article includes a list of related items that share the same name (or similar names).
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Ductal carcinoma
Micrograph of breast tissue with d... | Ductal carcinoma | c1176475 | 1,992 | wikipedia | https://en.wikipedia.org/wiki/Ductal_carcinoma | 2021-01-18T18:49:56 | {"mesh": ["D044584"], "wikidata": ["Q5311598"]} |
A number sign (#) is used with this entry because of evidence that early-onset vitamin B6-dependent epilepsy (EPVB6D) is caused by homozygous or compound heterozygous mutation in the PROSC gene (PLPBP; 604436) on chromosome 8p11.
Description
Early-onset vitamin B6-dependent epilepsy is an autosomal recessive ne... | EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT | c1291560 | 1,993 | omim | https://www.omim.org/entry/617290 | 2019-09-22T15:46:16 | {"omim": ["617290"], "orphanet": ["3006"]} |
A number sign (#) is used with this entry because it represents a contiguous gene duplication syndrome.
A locus for autism-7 (AUTS7; 610676) has been mapped to chromosome 17q21. See also chromosome 17q21.31 deletion syndrome (610443).
Clinical Features
Kirchhoff et al. (2007) reported a 10-year-old Moroccan girl w... | CHROMOSOME 17q21.31 DUPLICATION SYNDROME | c3150787 | 1,994 | omim | https://www.omim.org/entry/613533 | 2019-09-22T15:58:20 | {"doid": ["0060434"], "omim": ["613533"], "orphanet": ["217340"], "synonyms": ["Dup(17)(q21.31)", "Trisomy 17q21.31"]} |
Central nervous system primitive neuroectodermal tumor
Primitive neuroectodermal tumor of the central nervous system in a 5-year-old
A central nervous system primitive neuroectodermal tumor, often abbreviated as PNET, supratentorial PNET, or CNS-PNET,[1] is one of the 3 types of embryonal central nervous syste... | Central nervous system primitive neuroectodermal tumor | c3887678 | 1,995 | wikipedia | https://en.wikipedia.org/wiki/Central_nervous_system_primitive_neuroectodermal_tumor | 2021-01-18T18:36:11 | {"umls": ["C3887678"], "wikidata": ["Q18553662"]} |
Hyper IgM syndrome type 4
Immunoglobulin M
SpecialtyHematology
TypesHyper-IgM syndrome type 1,2,3,4 and 5[1][2][3][4][5]
Diagnostic methodMRI, Chest radiography and genetic testing[6]
TreatmentAllogeneic hematopoietic cell transplantation[7]
Hyper-IgM syndrome type 4 is a form of Hyper IgM syndrome whi... | Hyper-IgM syndrome type 4 | c1842413 | 1,996 | wikipedia | https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_4 | 2021-01-18T18:44:31 | {"gard": ["10580"], "mesh": ["C564277"], "icd-9": ["279.05"], "orphanet": ["101091", "183666"], "wikidata": ["Q5957524"]} |
## Description
Familial idiopathic basal ganglia calcification (IBGC) is characterized by bilateral basal ganglia calcification and has been associated with a variety of neurologic, cognitive, and psychiatric abnormalities. However, some affected individuals may be clinically asymptomatic (summary by Volpato et... | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2 | c0393590 | 1,997 | omim | https://www.omim.org/entry/606656 | 2019-09-22T16:10:16 | {"doid": ["0060230"], "omim": ["606656"], "orphanet": ["1980"], "genereviews": ["NBK1421"]} |
X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers.
This rapid growth is caused by an abnormality of ... | X-linked acrogigantism | c3891556 | 1,998 | medlineplus | https://medlineplus.gov/genetics/condition/x-linked-acrogigantism/ | 2021-01-27T08:24:41 | {"gard": ["6506"], "omim": ["300942"], "synonyms": []} |
Fear or hatred of books
Qin Shi Huangdi, the first Chinese emperor, ordered a mass destruction of books for fear of the Confucian ideas that they contained.
Bibliophobia is the fear or hatred of books.[1] Such fear often arises from fear of the effect books can have on society or culture.[2]:2 Bibliophobia is a com... | Bibliophobia | None | 1,999 | wikipedia | https://en.wikipedia.org/wiki/Bibliophobia | 2021-01-18T18:44:34 | {"wikidata": ["Q18169108"]} |
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