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 |
|---|---|---|---|---|---|---|---|
The neutrality of this article is disputed. Relevant discussion may be found on the talk page. Please do not remove this message until conditions to do so are met. (November 2018) (Learn how and when to remove this template message)
This article needs additional citations for verification. Please help improve th... | Health effects of tattoos | c2732997 | 7,200 | wikipedia | https://en.wikipedia.org/wiki/Health_effects_of_tattoos | 2021-01-18T19:00:16 | {"umls": ["C2732997"], "wikidata": ["Q7688463"]} |
## Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discus... | MYOPIA 14 | c1853196 | 7,201 | omim | https://www.omim.org/entry/610320 | 2019-09-22T16:04:43 | {"mesh": ["C565202"], "omim": ["610320"]} |
Laugier–Hunziker syndrome
SpecialtyDermatology
Laugier–Hunziker syndrome (/ˈloʊʒieɪ ˈhʊntsɪkər/) is a cutaneous condition characterized by hyperpigmentation of the oral mucosa,[1] longitudinal melanonychia,[1] and genital melanosis.[2]
The hyperpigmentation presented in Laugier-Hunziker syndrome is benign and... | Laugier–Hunziker syndrome | c0406425 | 7,202 | wikipedia | https://en.wikipedia.org/wiki/Laugier%E2%80%93Hunziker_syndrome | 2021-01-18T18:29:29 | {"gard": ["9669"], "umls": ["C0406425"], "wikidata": ["Q6498240"]} |
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: "Recurrent miscarriage" – news · newspapers · books · scholar · JSTOR (May 2016) (Learn how and when to remove this ... | Recurrent miscarriage | c0000809 | 7,203 | wikipedia | https://en.wikipedia.org/wiki/Recurrent_miscarriage | 2021-01-18T18:56:46 | {"mesh": ["D000026"], "icd-9": ["629.9"], "icd-10": ["N96"], "wikidata": ["Q25787"]} |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to... | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | c1837073 | 7,204 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85167 | 2021-01-23T17:04:44 | {"gard": ["10647"], "mesh": ["C563825"], "omim": ["608940"], "umls": ["C1837073"], "icd-10": ["Q77.8"], "synonyms": ["SMD-CRD"]} |
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
## Epidemiology
Prevalence is estimated at 1/500,000.
## Clinical description
Symptoms commonly occur after the age o... | Scheie syndrome | c0026708 | 7,205 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93474 | 2021-01-23T17:24:43 | {"gard": ["12561"], "mesh": ["D008059"], "omim": ["607016"], "icd-10": ["E76.0"], "synonyms": ["MPS1S", "MPSIS", "Mucopolysaccharidosis type 1S", "Mucopolysaccharidosis type IS"]} |
Genital trauma is trauma to the genitalia.
## Contents
* 1 History of studying genital trauma
* 2 Vaginal trauma from consensual and non-consensual intercourse
* 2.1 Why does vaginal trauma occur?
* 2.2 Types of vaginal trauma
* 2.3 Treatment of vaginal trauma
* 3 Vulvar trauma
* 4 Vaginal traum... | Genital trauma | c0560637 | 7,206 | wikipedia | https://en.wikipedia.org/wiki/Genital_trauma | 2021-01-18T18:31:38 | {"umls": ["C0560637"], "wikidata": ["Q25111475"]} |
Wagner's disease
Other namesWagner’s hyaloid retinal degeneration, Wagner’s vitreoretinal degeneration, Wagner syndrome
Wagner's disease is inherited in an autosomal dominant manner
Wagner's disease is a familial disease of the eye that can cause reduced visual acuity.[1] Wagner's disease was originally desc... | Wagner's disease | c1840452 | 7,207 | wikipedia | https://en.wikipedia.org/wiki/Wagner%27s_disease | 2021-01-18T18:49:02 | {"gard": ["7871"], "mesh": ["C536075"], "umls": ["C0339540", "C1840452"], "icd-10": ["H35.5"], "orphanet": ["898"], "wikidata": ["Q2470609"]} |
Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this te... | Pulmonary arterial hypertension associated with congenital heart disease | c3697119 | 7,208 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275803 | 2021-01-23T18:10:20 | {"icd-10": ["I27.2"], "synonyms": ["PAH associated with congenital heart disease"]} |
Intrauterine epidermal necrosis
SpecialtyDermatology
Intrauterine epidermal necrosis is a cutaneous condition that is rapidly fatal, characterized by skin erosions and ulcerations only.[1]
## See also[edit]
* Congenital erosive and vesicular dermatosis
* List of cutaneous conditions
## References[edit]
... | Intrauterine epidermal necrosis | None | 7,209 | wikipedia | https://en.wikipedia.org/wiki/Intrauterine_epidermal_necrosis | 2021-01-18T18:38:46 | {"wikidata": ["Q16902909"]} |
A number sign (#) is used with this entry because of evidence that this form of neurodegeneration with brain iron accumulation (NBIA), here designated 'NBIA3,' is caused by heterozygous mutation in the FTL gene (134790) on chromosome 19q13. See NOMENCLATURE section.
For a general phenotypic description and a dis... | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 | c1853578 | 7,210 | omim | https://www.omim.org/entry/606159 | 2019-09-22T16:10:40 | {"doid": ["0110737"], "mesh": ["C548080"], "omim": ["606159"], "orphanet": ["157846"], "synonyms": ["Alternative titles", "NEUROFERRITINOPATHY", "BASAL GANGLIA DISEASE, ADULT-ONSET"], "genereviews": ["NBK1141"]} |
A pool party
"Wetlook" describes the appearance of fabric which is shiny and thus appears to be wet.[citation needed] It may also describe the act of getting wet while wearing clothes, and enjoyment of doing so or of watching others do so,[1] as a form of sexual excitement.
## Contents
* 1 As sexual stimuli
* ... | Wetlook | None | 7,211 | wikipedia | https://en.wikipedia.org/wiki/Wetlook | 2021-01-18T18:44:51 | {"wikidata": ["Q1890008"]} |
In the large kindred reported by Edwards and Gale (1972) brachydactyly involved the hands and the feet in combination with congenital flexion contractures of the fingers. Syndactyly, polydactyly, septate vagina and urinary incontinence were present in some. Two severely affected children of affected first cousins... | CAMPTOBRACHYDACTYLY | c1861963 | 7,212 | omim | https://www.omim.org/entry/114150 | 2019-09-22T16:43:52 | {"mesh": ["C537967"], "omim": ["114150"], "orphanet": ["1319"]} |
A laryngeal cleft is a rare malformation involving the larynx (known as the voice box) and the esophagus (known as the food pipe). Normally, when the larynx develops, it is completely separate from the esophagus so that swallowed foods travel directly through the esophagus into the stomach. A laryngeal cleft occurs w... | Laryngeal cleft | c1859083 | 7,213 | gard | https://rarediseases.info.nih.gov/diseases/3188/laryngeal-cleft | 2021-01-18T17:59:31 | {"mesh": ["C537851"], "omim": ["215800"], "orphanet": ["2004"], "synonyms": ["LC", "Laryngotracheoesophageal cleft", "Anterior submucous laryngeal cleft (subtype)", "Laryngo-tracheo-esophageal diastema", "Laryngotracheal cleft", "Laryngo-tracheo-esophageal cleft", "LTEC", "Posterior laryngeal cleft (PLC)"]} |
JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatenin... | JAK3-deficient severe combined immunodeficiency | c1833275 | 7,214 | medlineplus | https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency/ | 2021-01-27T08:25:29 | {"gard": ["7628"], "mesh": ["C563440"], "omim": ["600802"], "synonyms": []} |
A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.
... | Autosomal dominant progressive nephropathy with hypertension | c0403443 | 7,215 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88659 | 2021-01-23T17:04:22 | {"mesh": ["C562889"], "omim": ["161900"], "icd-10": ["I15.1"]} |
An ovarian sex cord tumor with annular tubules (SCTAT) is a tumor that grows from cells in the ovaries known as sex cord cells. As these cells grow, they form tube-like shapes in the tumor. SCTATs can develop in one or both ovaries, and may cause symptoms such as puberty at an exceptionally young age (precocious pube... | Ovarian sex cord tumor with annular tubules | c1519276 | 7,216 | gard | https://rarediseases.info.nih.gov/diseases/12285/ovarian-sex-cord-tumor-with-annular-tubules | 2021-01-18T17:58:29 | {"synonyms": ["Ovarian sex cord-stromal tumor"]} |
Parkes Weber syndrome
Parkes Weber syndrome is inherited in an autosomal dominant manner.
SpecialtyMedical genetics
Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare condition, and its exact prevalence is unknown.[1][2][3] It is named after British dermatolo... | Parkes Weber syndrome | c0038505 | 7,217 | wikipedia | https://en.wikipedia.org/wiki/Parkes_Weber_syndrome | 2021-01-18T19:10:38 | {"gard": ["9787"], "mesh": ["D013341"], "icd-9": ["759.6"], "orphanet": ["90307"], "wikidata": ["Q7138441"]} |
A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing los... | Acrocraniofacial dysostosis | c1860145 | 7,218 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=949 | 2021-01-23T18:46:01 | {"gard": ["3075"], "mesh": ["C536892"], "omim": ["201050"], "umls": ["C1860145"], "icd-10": ["Q87.0"], "synonyms": ["Kaplan-Plauchu-Fitch syndrome"]} |
Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles characterized by persistent muscle cramping and twitching (fasciculations) in otherwise healthy individuals. This can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve ... | Cramp-fasciculation syndrome | c0751381 | 7,219 | gard | https://rarediseases.info.nih.gov/diseases/6205/cramp-fasciculation-syndrome | 2021-01-18T18:01:03 | {"mesh": ["D009468"], "umls": ["C0751381"], "synonyms": []} |
This article is about ischemia of the small bowel. For ischemia of the large bowel, see ischemic colitis.
Restriction of blood flow to the small intestine resulting in injury
Mesenteric ischemia
Other namesMesenteric ischaemia, mesenteric vascular disease
Computed tomography (CT) showing dilated loops of small ... | Mesenteric ischemia | c0267412 | 7,220 | wikipedia | https://en.wikipedia.org/wiki/Mesenteric_ischemia | 2021-01-18T19:01:28 | {"mesh": ["D065666"], "umls": ["C0267412"], "icd-9": ["557.9"], "icd-10": ["K55.9"], "wikidata": ["Q221463"]} |
Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal ... | Glucocorticoid-remediable aldosteronism | c1260386 | 7,221 | gard | https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism | 2021-01-18T18:00:17 | {"mesh": ["C563177"], "omim": ["103900"], "orphanet": ["403"], "synonyms": ["Familial hyperaldosteronism type 1", "Hyperaldosteronism, familial type 1", "Dexamethasone sensitive hypertension", "Glucocorticoid sensitive hypertension"]} |
Quadrichrome vitiligo
SpecialtyDermatology
Quadrichrome vitiligo is another variant of vitiligo, a cutaneous condition, which reflects the presence of a fourth color (dark brown) at sites of perifollicular repigmentation.[1]
## See also[edit]
* ABCD syndrome
* List of cutaneous conditions
* Trichrome v... | Quadrichrome vitiligo | None | 7,222 | wikipedia | https://en.wikipedia.org/wiki/Quadrichrome_vitiligo | 2021-01-18T18:31:34 | {"wikidata": ["Q7268396"]} |
A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent un... | Retiform hemangioendothelioma | c1304512 | 7,223 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=458763 | 2021-01-23T17:13:55 | {"icd-10": ["D18.0"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (November 2011) (Learn how and when to remove this template message)
A personality developme... | Personality development disorder | None | 7,224 | wikipedia | https://en.wikipedia.org/wiki/Personality_development_disorder | 2021-01-18T19:09:00 | {"wikidata": ["Q430947"]} |
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral a... | Macrocephaly-developmental delay syndrome | c3810225 | 7,225 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397612 | 2021-01-23T18:28:40 | {"omim": ["615637"], "icd-10": ["Q75.3"]} |
Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesi... | Rapid-onset dystonia parkinsonism | c1868681 | 7,226 | medlineplus | https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism/ | 2021-01-27T08:24:44 | {"gard": ["9628"], "mesh": ["C538001"], "omim": ["128235"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB) is caused by homozygous mutation in the TRAPPC2L gene (610970) on chromosome 16q24.
Clinical Features
Milev et al. (2018) reported 2 unrelated girls who presented at 9 and 1... | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS | None | 7,227 | omim | https://www.omim.org/entry/618331 | 2019-09-22T15:42:28 | {"omim": ["618331"]} |
A number sign (#) is used with this entry because of evidence that Watson syndrome (WTSN) is caused by heterozygous mutation in the NF1 gene (613113) on chromosome 17q11.
Description
Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual abil... | WATSON SYNDROME | c0553586 | 7,228 | omim | https://www.omim.org/entry/193520 | 2019-09-22T16:31:57 | {"mesh": ["D009456"], "omim": ["193520"], "orphanet": ["3444"], "synonyms": ["Alternative titles", "PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS", "CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS"]} |
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (June 2014) (Learn how and when to remove this template message)
Bigeminy
Other namesbigemini
Bigeminy as seen on a 12 lead ECG
Pronunci... | Bigeminy | c3714585 | 7,229 | wikipedia | https://en.wikipedia.org/wiki/Bigeminy | 2021-01-18T18:33:57 | {"wikidata": ["Q184855"]} |
A number sign (#) is used with this entry because autosomal dominant Parkinson disease-4 (PARK4) is caused by heterozygous triplication of the alpha-synuclein gene (SNCA; 163890) on chromosome 4q22.
See also PD1 (168601) and Lewy body dementia (DLB; 127750), which are also caused by mutation in the SNCA gene and... | PARKINSON DISEASE 4, AUTOSOMAL DOMINANT | c1854182 | 7,230 | omim | https://www.omim.org/entry/605543 | 2019-09-22T16:11:23 | {"doid": ["0060895"], "mesh": ["C565324"], "omim": ["605543"], "orphanet": ["411602"], "synonyms": ["Alternative titles", "Autosomal dominant late-onset Parkinson disease", "LOPD", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY"]} |
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be chall... | Speech disorder | c0037822 | 7,231 | wikipedia | https://en.wikipedia.org/wiki/Speech_disorder | 2021-01-18T19:04:14 | {"mesh": ["D013064"], "umls": ["C0037822"], "icd-9": ["307.0", "784.5"], "icd-10": ["R47", "F98.6", "F98.5"], "wikidata": ["Q1282114"]} |
Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying caus... | Lipodermatosclerosis | c0406500 | 7,232 | gard | https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis | 2021-01-18T17:59:21 | {"mesh": ["C537026"], "umls": ["C0406500"], "synonyms": ["Acute lipodermatosclerosis", "Hypodermitis sclerodermaformis", "Sclerosing panniculitis"]} |
A number sign (#) is used with this entry because atransferrinemia is caused by homozygous or compound heterozygous mutation in the structural gene for transferrin (TF; 190000) on chromosome 3q22. Variation in the TF gene also affects serum transferrin levels.
Variation in the HFE gene (613609.0001) also affects ser... | ATRANSFERRINEMIA | c0521802 | 7,233 | omim | https://www.omim.org/entry/209300 | 2019-09-22T16:30:38 | {"doid": ["0050649"], "mesh": ["C538259"], "omim": ["209300"], "orphanet": ["1195"], "synonyms": ["Alternative titles", "HYPOTRANSFERRINEMIA, FAMILIAL"]} |
Ladda et al. (1993) described the cases of 2 brothers with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal, and molecular studies using DNA markers showed no evidenc... | ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY | c1844935 | 7,234 | omim | https://www.omim.org/entry/301815 | 2019-09-22T16:18:45 | {"mesh": ["C535465"], "omim": ["301815"], "orphanet": ["1484"]} |
Lung disease
Eosinophilic pneumonia
SpecialtyRespirology
Eosinophilic pneumonia is a disease in which an eosinophil, a type of white blood cell, accumulates in the lungs. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. Several different kinds of e... | Eosinophilic pneumonia | c1527407 | 7,235 | wikipedia | https://en.wikipedia.org/wiki/Eosinophilic_pneumonia | 2021-01-18T18:40:41 | {"gard": ["107"], "mesh": ["D011657"], "umls": ["C1527407"], "wikidata": ["Q32540"]} |
A number sign (#) is used with this entry because mutations in several genes are associated with lung cancer. Both germline and somatic mutations have been identified in the EGFR (131550) and p53 (TP53; 191170) genes, and somatic mutations have been identified in the KRAS (190070), BRAF (164757), ERBB2 (164870), ... | LUNG CANCER | c0007120 | 7,236 | omim | https://www.omim.org/entry/211980 | 2019-09-22T16:30:09 | {"doid": ["1324"], "mesh": ["D002282"], "omim": ["211980"]} |
Bleeding canker of horse chestnut is a common canker of horse chestnut trees (Aesculus hippocastanum, also known as conker trees) that is known to be caused by infection with several different pathogens.
Infections by the gram-negative fluorescent bacterium Pseudomonas syringae pathovar aesculi are a new phenomenon,... | Bleeding canker of horse chestnut | None | 7,237 | wikipedia | https://en.wikipedia.org/wiki/Bleeding_canker_of_horse_chestnut | 2021-01-18T18:29:02 | {"wikidata": ["Q4925900"]} |
A number sign (#) is used with this entry because of evidence that ataxia with vitamin E deficiency (AVED) is caused by homozygous or compound heterozygous mutation in the TTPA gene (600415) on chromosome 8q12.
Clinical Features
Harding et al. (1985) described a young woman with spinocerebellar degeneration thought... | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | c1848533 | 7,238 | omim | https://www.omim.org/entry/277460 | 2019-09-22T16:21:13 | {"doid": ["0090028"], "mesh": ["C535393"], "omim": ["277460"], "orphanet": ["96"], "synonyms": ["Alternative titles", "ATAXIA, FRIEDREICH-LIKE, WITH SELECTIVE VITAMIN E DEFICIENCY", "FRIEDREICH-LIKE ATAXIA"], "genereviews": ["NBK1241"]} |
Itchy skin rash usually affecting the genitals
Lichen sclerosus
Other namesBalanitis xerotica obliterans, lichen sclerosus et atrophicus,[1] lichen plan atrophique, lichen plan scléreux, Kartenblattförmige Sklerodermie, Weissflecken Dermatose, lichen albus, lichen planus sclerosus et atrophicus, dermatitis licheno... | Lichen sclerosus | c0023652 | 7,239 | wikipedia | https://en.wikipedia.org/wiki/Lichen_sclerosus | 2021-01-18T18:29:21 | {"gard": ["6905"], "mesh": ["D018459"], "umls": ["C0023652"], "icd-9": ["701.0"], "icd-10": ["L90.0"], "orphanet": ["33409"], "wikidata": ["Q1641400"]} |
A number sign (#) is used with this entry because this form of congenital muscular dystrophy (MDC) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; 150330) on chromosome 1q22.
See also Emery-Dreifuss muscular dystrophy-2 (EDMD2; 181350), an allelic disorder with overlapping features.
Cli... | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED | c2750785 | 7,240 | omim | https://www.omim.org/entry/613205 | 2019-09-22T15:59:21 | {"doid": ["0110640"], "mesh": ["C567708"], "omim": ["613205"], "orphanet": ["157973"], "synonyms": ["Alternative titles", "MDCL"]} |
A number sign (#) is used with this entry because of evidence that X-linked spermatogenic failure-2 (SPGFX2) is caused by hemizygous mutation in the TEX11 gene (300311) on chromosome Xq13.
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Cl... | SPERMATOGENIC FAILURE, X-LINKED, 2 | c1839841 | 7,241 | omim | https://www.omim.org/entry/309120 | 2019-09-22T16:17:53 | {"doid": ["0070185"], "omim": ["309120"], "orphanet": ["399805"], "synonyms": ["Alternative titles", "MALE INFERTILITY FROM DEFECT IN MEIOSIS"]} |
This article is about molybdenum deficiency in humans. For the same deficiency in plants, see Molybdenum deficiency (plant disorder).
Molybdenum deficiency
Molybdenum
SpecialtyEndocrinology
Molybdenum deficiency refers to the clinical consequences of inadequate supplies of molybdenum in the diet.
The amoun... | Molybdenum deficiency | c0342928 | 7,242 | wikipedia | https://en.wikipedia.org/wiki/Molybdenum_deficiency | 2021-01-18T18:42:59 | {"umls": ["C0342928"], "icd-10": ["E61.5"], "wikidata": ["Q6896947"]} |
Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.
## Epidemiology
Nipah virus disease is endemic to south Asia, where sporadic outbreaks have been noted in Mala... | Nipah virus disease | None | 7,243 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99825 | 2021-01-23T17:52:39 | {"icd-10": ["A98.8"], "synonyms": ["Nipah encephalitis", "Nipah fever"]} |
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting. This condition is classified as either partial or severe based on the degree of deficiency of the factor XI protein. However, regardless of the severity of ... | Factor XI deficiency | c0015523 | 7,244 | medlineplus | https://medlineplus.gov/genetics/condition/factor-xi-deficiency/ | 2021-01-27T08:25:41 | {"gard": ["9670"], "mesh": ["D005173"], "omim": ["612416"], "synonyms": []} |
Paragraphia is a condition which results in the use of unintended letters or phonemes, words or syllables when writing. This is typically an acquired disorder derived from brain damage and it results in a diminished ability to effectively use written expression.[1]
Paragraphias can be classified as function of the t... | Paragraphia | c0234492 | 7,245 | wikipedia | https://en.wikipedia.org/wiki/Paragraphia | 2021-01-18T19:07:25 | {"wikidata": ["Q48999477"]} |
## Clinical Features
Al-Gazali et al. (1994) reported 2 sibs, born of consanguineous Sudanese parents, with multiple congenital abnormalities including prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease, and earl... | AL-GAZALI SYNDROME | c1836121 | 7,246 | omim | https://www.omim.org/entry/609465 | 2019-09-22T16:06:01 | {"mesh": ["C536817"], "omim": ["609465"], "orphanet": ["2725"], "synonyms": ["Al Gazali-Al Talabani syndrome", "Al Gazali-Lytle syndrome"]} |
Hemosuccus pancreaticus
Other namesPseudohematobilia, Wirsungorrhage
SpecialtyGastroenterology
Hemosuccus pancreaticus is a rare cause of hemorrhage in the gastrointestinal tract. It is caused by a bleeding source in the pancreas, pancreatic duct, or structures adjacent to the pancreas, such as the splenic a... | Hemosuccus pancreaticus | None | 7,247 | wikipedia | https://en.wikipedia.org/wiki/Hemosuccus_pancreaticus | 2021-01-18T18:56:52 | {"icd-9": ["577"], "icd-10": ["K86"], "wikidata": ["Q5712583"]} |
Amelanotic melanoma
Amelanotic melanoma on dog's toe
SpecialtyOncology, dermatology
Amelanotic melanoma is a type of skin cancer in which the cells do not make any melanin.[1]:696[2] They can be pink, red, purple or of normal skin color, and are therefore difficult to diagnose correctly. They can occur a... | Amelanotic melanoma | c0206735 | 7,248 | wikipedia | https://en.wikipedia.org/wiki/Amelanotic_melanoma | 2021-01-18T19:10:09 | {"mesh": ["D018328"], "umls": ["C0206735"], "icd-10": ["C43"], "wikidata": ["Q4742183"]} |
Enchondromatosis
SpecialtyMedical genetics
Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas.
Ollier disease can be considered a synonym for enchondromatosis.[1] Maffucci syndrome is enchondromatosis with hemangiomatosis.[2]
## References[edit]
1. ^ "... | Enchondromatosis | c0014084 | 7,249 | wikipedia | https://en.wikipedia.org/wiki/Enchondromatosis | 2021-01-18T18:30:00 | {"mesh": ["D004687"], "icd-9": ["756.4"], "icd-10": ["Q78.4"], "orphanet": ["296"], "wikidata": ["Q5375429"]} |
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dy... | Multiple mitochondrial dysfunctions syndrome | c3276432 | 7,250 | medlineplus | https://medlineplus.gov/genetics/condition/multiple-mitochondrial-dysfunctions-syndrome/ | 2021-01-27T08:24:38 | {"gard": ["12632"], "omim": ["605711", "614299", "615330"], "synonyms": []} |
Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cas... | Ovarian cancer | c2676676 | 7,251 | medlineplus | https://medlineplus.gov/genetics/condition/ovarian-cancer/ | 2021-01-27T08:25:23 | {"gard": ["7295"], "omim": ["604370", "612555", "613399", "614291", "167000", "607893"], "synonyms": []} |
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to ... | Parkinsonian-pyramidal syndrome | c1850100 | 7,252 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171695 | 2021-01-23T18:10:08 | {"gard": ["9175"], "mesh": ["C538104"], "omim": ["168100", "168601", "260300"], "umls": ["C1850100"], "icd-10": ["G20"], "synonyms": ["Pallidopyramidal syndrome"]} |
Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or le... | Charcot-Marie-Tooth disease | c0007959 | 7,253 | gard | https://rarediseases.info.nih.gov/diseases/6034/charcot-marie-tooth-disease | 2021-01-18T18:01:32 | {"mesh": ["D002607"], "orphanet": ["166"], "synonyms": ["CMT", "Hereditary motor and sensory neuropathy", "HMSN", "Charcot Marie Tooth disease"]} |
Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclus... | Mandibular arteriovenous malformation | c3839452 | 7,254 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141174 | 2021-01-23T18:13:31 | {"icd-10": ["Q27.3"], "synonyms": ["Arteriovenous malformation of mandible"]} |
A number sign (#) is used with this entry because of evidence that visceral myopathy (VSCM) is caused by heterozygous mutation in the ACTG2 gene (102545) on chromosome 2p13.
Description
Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric ... | VISCERAL MYOPATHY | c1835084 | 7,255 | omim | https://www.omim.org/entry/155310 | 2019-09-22T16:38:29 | {"doid": ["0060610"], "mesh": ["C563597"], "omim": ["155310"], "orphanet": ["2604"], "synonyms": ["Alternative titles", "MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME", "INFANTILE VISCERAL MYOPATHY", "MEGADUODENUM AND/OR MEGACYSTIS", "BERDON SYNDROME", "PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL"], "generevie... |
A rare disorder of the anterior segment of the eye characterized by unilateral or bilateral, chronic and recurrent inflammation affecting the upper tarsal and bulbar conjunctiva, as well as the superior limbus, manifesting as a papillary reaction on the upper tarsal conjunctiva, thickening and folding of redundant su... | Superior limbic keratoconjunctivitis | c0339229 | 7,256 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88633 | 2021-01-23T17:38:09 | {"gard": ["10940"], "umls": ["C0339229"], "icd-10": ["H16.2"], "synonyms": ["SLK", "Theodore superior limbic keratoconjunctivitis", "Theodore syndrome"]} |
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: "Carrion's disease" – news · newspapers · b... | Carrion's disease | c0029307 | 7,257 | wikipedia | https://en.wikipedia.org/wiki/Carrion%27s_disease | 2021-01-18T18:52:53 | {"mesh": ["D001474"], "umls": ["C0029307", "C0348974"], "icd-9": ["088"], "icd-10": ["A44.800", "A44.0"], "orphanet": ["64692"], "wikidata": ["Q1750104"]} |
A number sign (#) is used with this entry because hereditary fructose intolerance is caused by homozygous or compound heterozygous mutation in the gene encoding aldolase B (ALDOB; 612724) on chromosome 9q31.
Description
Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or su... | FRUCTOSE INTOLERANCE, HEREDITARY | c0016751 | 7,258 | omim | https://www.omim.org/entry/229600 | 2019-09-22T16:27:45 | {"doid": ["9869"], "mesh": ["D005633"], "omim": ["229600"], "icd-9": ["271.2"], "icd-10": ["E74.12"], "orphanet": ["469"], "synonyms": ["Alternative titles", "FRUCTOSEMIA", "FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY", "FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY", "ALDOLASE B DEFICIENCY", "ALDOB DEFICIENCY"], "gener... |
Campomelic dysplasia is a rare genetic disorder that affects the development of the skeleton, reproductive system, and face. Symptoms of campomelic dysplasia may include bowing of the legs, dislocated hips, small lungs and chest, and external genitalia that do not look clearly male or clearly female (ambiguous genita... | Campomelic dysplasia | c1861922 | 7,259 | gard | https://rarediseases.info.nih.gov/diseases/10027/campomelic-dysplasia | 2021-01-18T18:01:39 | {"mesh": ["D055036"], "omim": ["114290"], "orphanet": ["140"], "synonyms": ["CMPD", "CMPD1", "CMD1", "CMPD1/SRA1"]} |
HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive disease of the nervous system that affects less than 2% of people with HTLV-1 infection. Signs and symptoms vary but may include slowly progressive weakness and spasticity of one or both legs, exaggerated reflexes, muscle contraction... | HTLV-1 associated myelopathy/tropical spastic paraparesis | c0030481 | 7,260 | gard | https://rarediseases.info.nih.gov/diseases/8208/htlv-1-associated-myelopathytropical-spastic-paraparesis | 2021-01-18T17:59:58 | {"mesh": ["D015493"], "umls": ["C0030481"], "synonyms": ["HAM/TSP", "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis", "Tropical spastic paraparesis (formerly)"]} |
Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.
## Epidemiology
Incidence is estimated at 1/15,000 births. Males are more frequently affected than females (sex ratio of 2:1) and the frequency of trigonocephalic twins is unexpectedly hig... | Isolated trigonocephaly | c0265535 | 7,261 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3366 | 2021-01-23T17:40:13 | {"mesh": ["D003398"], "omim": ["190440", "614485"], "umls": ["C0265535"], "icd-10": ["Q75.0"], "synonyms": ["Non-syndromic metopic craniosynostosis"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-32 (MRD32) is caused by heterozygous mutation in the KAT6A gene (601408) on chromosome 8p11.
Clinical Features
Arboleda et al. (2015) reported 4 unrelated children, ranging from 2 years, 11 months to 5 years of ... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | c4225396 | 7,262 | omim | https://www.omim.org/entry/616268 | 2019-09-22T15:49:26 | {"doid": ["0070062"], "omim": ["616268"], "orphanet": ["457193"], "synonyms": []} |
Acrotomophilia (from the Greek ἀκρότομος "having the top cut off" (from ἄκρον akron "extremity" and -τομος -tomos from τέμνω temno "I cut") and φιλία philia "love") is a paraphilia in which an individual expresses strong sexual interest in amputees. It is a counterpart to apotemnophilia, the sexual interest in being ... | Acrotomophilia | None | 7,263 | wikipedia | https://en.wikipedia.org/wiki/Acrotomophilia | 2021-01-18T18:39:17 | {"wikidata": ["Q461925"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970.
Mapping
Warburg et al. (1991) described a 20-year-old man with mental retardation and electrophysiologically demonstrated cone-rod dystrophy since childhood. He had hypogonadism and a central... | CONE-ROD DYSTROPHY 1 | c3489532 | 7,264 | omim | https://www.omim.org/entry/600624 | 2019-09-22T16:16:02 | {"doid": ["0111009"], "mesh": ["D000071700"], "omim": ["120970", "600624"], "orphanet": ["1872"], "synonyms": ["Alternative titles", "CRD1"]} |
Fourth disease
Other namesFilatov-Dukes' disease
SpecialtyInfectious disease
See also: Scarlet fever
Dukes' disease, named after Clement Dukes,[1] also known as fourth disease[2] or Filatov-Dukes' disease (after Nil Filatov),[3] is an exanthem. It is distinguished from measles or forms of rubella, though it... | Dukes' disease | None | 7,265 | wikipedia | https://en.wikipedia.org/wiki/Dukes%27_disease | 2021-01-18T18:55:35 | {"icd-9": ["057.8"], "icd-10": ["B09"], "wikidata": ["Q3281270"]} |
Systemic-onset juvenile idiopathic arthritis
Other namesSystemic juvenile idiopathic arthritis
SpecialtyPediatrics/rheumatology
Systemic-onset juvenile idiopathic arthritis (or the juvenile onset form of Still's disease[1]) is a type of juvenile idiopathic arthritis (JIA) with extra-articular manifestati... | Systemic-onset juvenile idiopathic arthritis | c0087031 | 7,266 | wikipedia | https://en.wikipedia.org/wiki/Systemic-onset_juvenile_idiopathic_arthritis | 2021-01-18T19:09:05 | {"gard": ["10966"], "mesh": ["D001171"], "umls": ["C0087031", "C1384600"], "icd-10": ["M08.2"], "orphanet": ["85414"], "wikidata": ["Q17148432"]} |
Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed a... | Chronic actinic dermatitis | c1510437 | 7,267 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=330064 | 2021-01-23T18:43:02 | {"mesh": ["D010787"], "umls": ["C0282309", "C1510437"], "icd-10": ["L57.8"], "synonyms": ["Actinic reticuloid", "Chronic photosensitivity dermatitis"]} |
Bulging of the eye anteriorly out of the orbit
"Proptosis" redirects here. For the condition of drooping of the eyelid, see Ptosis (eyelid).
This article is about proptosis. For the weevils, see Exophthalmus.
This article needs additional citations for verification. Please help improve this article by adding citat... | Exophthalmos | c0015300 | 7,268 | wikipedia | https://en.wikipedia.org/wiki/Exophthalmos | 2021-01-18T19:05:08 | {"mesh": ["D005094"], "umls": ["C1837760", "C1848490", "C1862425", "C0015300"], "wikidata": ["Q684383"]} |
## Clinical Features
Gilmartin et al. (1977) reported an inbred Mennonite kindred in which 5 sibships had children who succumbed to a neonatal radiculoneuropathy. One parent of each of the 5 sibships was a member of 1 sibship (i.e., the 5 sibships were related as first cousins). In addition, the other parents i... | RADICULONEUROPATHY, FATAL NEONATAL | c1849471 | 7,269 | omim | https://www.omim.org/entry/266250 | 2019-09-22T16:22:57 | {"mesh": ["C564857"], "omim": ["266250"]} |
Elephantiasis
A woman with enlarged legs due to Elephantiasis tropica
SpecialtyInfectious disease, general surgery
SymptomsSwelling of the skin
Elephantiasis is the enlargement and hardening of limbs or body parts due to tissue swelling.[1][2] It is characterised by edema, hypertrophy, and fibrosis of skin... | Elephantiasis | c0013882 | 7,270 | wikipedia | https://en.wikipedia.org/wiki/Elephantiasis | 2021-01-18T19:06:25 | {"mesh": ["D004604"], "umls": ["C0013882"], "wikidata": ["Q16775468"]} |
Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (dysarthria... | Spinocerebellar ataxia 28 | c1853249 | 7,271 | gard | https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28 | 2021-01-18T17:57:36 | {"mesh": ["C537205"], "omim": ["610246"], "umls": ["C1853249"], "orphanet": ["101109"], "synonyms": ["SCA28", "Spinocerebellar ataxia type 28"]} |
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: "Hyperprolactinaemia" – news · newspapers ·... | Hyperprolactinaemia | c0020514 | 7,272 | wikipedia | https://en.wikipedia.org/wiki/Hyperprolactinaemia | 2021-01-18T18:37:01 | {"gard": ["6037"], "mesh": ["D006966"], "umls": ["C0008043", "C0020514"], "icd-9": ["253.1"], "orphanet": ["397685"], "wikidata": ["Q1433936"]} |
## Clinical Features
Ayers (1899) reported a 3-month-old black fetus with 'pithecoid' ears, involving the presence of a Darwinian point on the outer helix that was more prominent on the left than the right. In addition, the author described a trough extending from the external edge of the helical border forward... | DARWINIAN TUBERCLE OF PINNA | c2751189 | 7,273 | omim | https://www.omim.org/entry/124300 | 2019-09-22T16:42:35 | {"omim": ["124300"], "synonyms": ["Alternative titles", "DARWINIAN POINT OF PINNA"]} |
Anagen effluvium
SpecialtyDermatology
Anagen effluvium is the pathologic loss of anagen or growth-phase hairs. Classically, it is caused by radiation therapy to the head and systemic chemotherapy, especially with alkylating agents.[1][2]:753–4
## See also[edit]
* Telogen effluvium
* Noncicatricial alopec... | Anagen effluvium | c0263519 | 7,274 | wikipedia | https://en.wikipedia.org/wiki/Anagen_effluvium | 2021-01-18T19:03:46 | {"icd-10": ["L65.100", "L65.1"], "wikidata": ["Q4750829"]} |
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
## Epidemiology
The disease has been reported worldwide, but is more frequent in Ashkenazi Jewish population. The incidence of the severe f... | Severe Canavan disease | c0751664 | 7,275 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314911 | 2021-01-23T18:19:06 | {"mesh": ["D017825"], "omim": ["271900"], "umls": ["C0751664", "C0751666"], "icd-10": ["E75.2"], "synonyms": ["Infantile Canavan disease", "Neonatal Canavan disease"]} |
Pulmonary enteric adenocarcinoma
SpecialtyOncology/pulmonology
Pulmonary enteric adenocarcinoma is rare subtype of pulmonary adenocarcinoma.[1][2]
## Contents
* 1 Presentation
* 2 Histology
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 References
## Presentation[... | Pulmonary enteric adenocarcinoma | None | 7,276 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary_enteric_adenocarcinoma | 2021-01-18T18:28:50 | {"wikidata": ["Q16866907"]} |
Thrombophlebitis
Other namesPhlebitis[1]
Ultrasonographic image showing thrombosis of the great saphenous vein.
SpecialtyCardiology
SymptomsSkin redness[1]
Risk factorsSmoking, Lupus[1]
Diagnostic methodDoppler ultrasound, Venography[1]
TreatmentBlood thinners, Pain medication[1]
Thrombophlebit... | Thrombophlebitis | c0040046 | 7,277 | wikipedia | https://en.wikipedia.org/wiki/Thrombophlebitis | 2021-01-18T19:02:32 | {"mesh": ["D013924"], "umls": ["C0265057", "C0040046"], "wikidata": ["Q377978"]} |
Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 5... | Mosaic variegated aneuploidy syndrome | c1850343 | 7,278 | gard | https://rarediseases.info.nih.gov/diseases/3007/mosaic-variegated-aneuploidy-syndrome | 2021-01-18T17:58:58 | {"mesh": ["C536987"], "omim": ["257300", "614114"], "orphanet": ["1052"], "synonyms": ["MVA syndrome", "Warburton-Anyane-Yeboa syndrome"]} |
Graves (1921) found that about 54% of persons have a convex vertebral border, about 26% have a straight vertebral border, and about 20% have a concave border.
Skel \- Vertebral border contour of scapula Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edi... | SCAPULA, CONTOUR OF VERTEBRAL BORDER OF | c1867019 | 7,279 | omim | https://www.omim.org/entry/181300 | 2019-09-22T16:35:05 | {"omim": ["181300"]} |
Febrile infection-related epilepsy syndrome
Other namesAcute encephalitis with refractory, repetitive partial seizures (AERRPS), new-onset refractory status epilepticus (NORSE), devastating epilepsy in school-aged children (DESC).
SymptomsPrior febrile illness with or without upper respiratory tract infection and... | Febrile infection-related epilepsy syndrome | c4049262 | 7,280 | wikipedia | https://en.wikipedia.org/wiki/Febrile_infection-related_epilepsy_syndrome | 2021-01-18T18:43:23 | {"gard": ["11005"], "icd-10": ["G40.5"], "orphanet": ["163703"], "synonyms": ["AERRPS", "Acute encephalitis with refractory repetitive partial seizures", "Acute non-herpetic encephalitis with severe refractory status epilepticus", "DESC syndrome", "Devastating epileptic encephalopathy in school-aged children", "FIRES",... |
Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that vis... | Spinocerebellar ataxia 7 | c0752125 | 7,281 | gard | https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7 | 2021-01-18T17:57:36 | {"mesh": ["D020754"], "omim": ["164500"], "orphanet": ["94147"], "synonyms": ["SCA7", "Spinocerebellar ataxia type 7", "Olivopontocerebellar atrophy 3", "OPCA3", "Autosomal dominant cerebellar ataxia type 2", "OPCA with retinal degeneration", "OPCA with macular degeneration and external ophthalmoplegia", "OPCA III", "A... |
A number sign (#) is used with this entry because of evidence that 2,4-dienoyl-CoA reductase deficiency (DECRD) is caused by homozygous mutation in the NADK2 gene (615787) on chromosome 5p13. One such patient has been reported.
Description
DECR deficiency is a rare autosomal recessive inborn error of metabolism res... | 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY | c1857252 | 7,282 | omim | https://www.omim.org/entry/616034 | 2019-09-22T15:50:07 | {"mesh": ["C565624"], "omim": ["616034"], "orphanet": ["431361"]} |
For other uses, see Epiphora (disambiguation).
Epiphora (medicine)
SpecialtyOphthalmology
Epiphora is an overflow of tears onto the face, other than caused by normal crying. It is a clinical sign or condition that constitutes insufficient tear film drainage from the eyes, in that tears will drain down the fac... | Epiphora (medicine) | c0152227 | 7,283 | wikipedia | https://en.wikipedia.org/wiki/Epiphora_(medicine) | 2021-01-18T18:40:01 | {"mesh": ["D007766"], "umls": ["C0152227"], "wikidata": ["Q1347256"]} |
Alveolar rhabdomyosarcoma
SpecialtyOncology
Alveolar rhabdomyosarcoma (ARMS) is a sub-type of the rhabdomyosarcoma soft tissue cancer family whose lineage is from mesenchymal cells and are related to skeletal muscle cells.[1] ARMS tumors resemble the alveoli tissue that can be found in the lungs.[1] Tumor ... | Alveolar rhabdomyosarcoma | c0206655 | 7,284 | wikipedia | https://en.wikipedia.org/wiki/Alveolar_rhabdomyosarcoma | 2021-01-18T18:36:46 | {"gard": ["4701"], "mesh": ["D018232"], "umls": ["C0206655"], "orphanet": ["780", "99756"], "wikidata": ["Q4737958"]} |
The hand of benediction, also known as benediction sign or preacher's hand, occurs as a result of prolonged compression or injury of the median nerve at the forearm or elbow.[1][2]
## Cause[edit]
The term "hand of benediction" refers to damage of the median nerve. However, the name is misleading as the patients... | Hand of benediction | None | 7,285 | wikipedia | https://en.wikipedia.org/wiki/Hand_of_benediction | 2021-01-18T19:07:11 | {"wikidata": ["Q5647184"]} |
A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia g... | Autoimmune polyendocrinopathy type 4 | c3266026 | 7,286 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=227990 | 2021-01-23T17:23:13 | {"icd-10": ["E31.0"], "synonyms": ["APS type 4", "APS4", "Autoimmune polyendocrine syndrome type 4", "Autoimmune polyglandular syndrome type 4"]} |
A number sign (#) is used with this entry because Hartnup disorder (HND) is caused by homozygous or compound heterozygous mutation in the SLC6A19 gene (608893) on chromosome 5p15.
Clinical Features
First described by Baron et al. (1956), this disorder is characterized by a pellagra-like light-sensitive rash, cerebe... | HARTNUP DISORDER | c0018609 | 7,287 | omim | https://www.omim.org/entry/234500 | 2019-09-22T16:27:19 | {"doid": ["1060"], "mesh": ["D006250"], "omim": ["234500"], "icd-10": ["E72.02"], "orphanet": ["2116"], "synonyms": ["Alternative titles", "HARTNUP DISEASE"]} |
Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresi... | Ring chromosome 18 syndrome | c0265475 | 7,288 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1442 | 2021-01-23T17:10:25 | {"gard": ["6077"], "mesh": ["C538304"], "umls": ["C0265475", "C2931809"], "icd-10": ["Q93.2"], "synonyms": ["Ring 18", "Ring chromosome 18"]} |
Abnormal fatigue of unknown origin that persists for at least 6 months
This page does not refer to self-reported fatigue, fatigue caused by chronic fatigue syndrome or another medical condition.
Idiopathic Chronic Fatigue
Other namesICF, Asthenia[1]
SpecialtyFamily medicine, Internal medicine, Musculoskeletal ... | Idiopathic chronic fatigue | None | 7,289 | wikipedia | https://en.wikipedia.org/wiki/Idiopathic_chronic_fatigue | 2021-01-18T19:07:59 | {"icd-10": ["R53"], "wikidata": ["Q96199399"]} |
Disease of lymph nodes
Lymphadenopathy
Other namesAdenopathy, swollen lymph nodes
A CT scan of axillary lymphadenopathy in a 57-year-old man with multiple myeloma.
SpecialtyInfectious disease
Lymphadenopathy or adenopathy is a disease of the lymph nodes, in which they are abnormal in size or consisten... | Lymphadenopathy | c0497156 | 7,290 | wikipedia | https://en.wikipedia.org/wiki/Lymphadenopathy | 2021-01-18T18:32:46 | {"mesh": ["D000072281"], "umls": ["C0497156"], "icd-9": ["785.6", "289.3", "289.1", "683"], "icd-10": ["L04", "I88", "R59.1"], "wikidata": ["Q847726"]} |
Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episod... | Dopamine beta-hydroxylase deficiency | c0342687 | 7,291 | medlineplus | https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency/ | 2021-01-27T08:24:50 | {"gard": ["1903"], "mesh": ["C535600"], "omim": ["223360"], "synonyms": []} |
Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pac... | Progressive familial heart block | c1861984 | 7,292 | medlineplus | https://medlineplus.gov/genetics/condition/progressive-familial-heart-block/ | 2021-01-27T08:25:25 | {"gard": ["10005"], "mesh": ["C566186"], "omim": ["113900", "604559", "140400"], "synonyms": []} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
To identify genetic variants influencing adult human height, Weedon et al. (2008) used genomewide association data from 13,665 individuals and genotyped 39 variants in an additional 16,482 samples.... | STATURE QUANTITATIVE TRAIT LOCUS 13 | c2677131 | 7,293 | omim | https://www.omim.org/entry/612226 | 2019-09-22T16:02:13 | {"omim": ["612226"]} |
Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavi... | Hyperlysinemia | c0936256 | 7,294 | gard | https://rarediseases.info.nih.gov/diseases/2828/hyperlysinemia | 2021-01-18T17:59:54 | {"mesh": ["D020167"], "omim": ["238700"], "orphanet": ["2203"], "synonyms": ["Lysine alpha-ketoglutarate reductase deficiency", "Alpha-aminoadipic semialdehyde synthase deficiency", "L-lysine NAD-oxido-reductase deficiency", "Lysine intolerance"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-10 (ARCI10) is caused by homozygous or compound heterozygous mutation in the PNPLA1 gene (612121) on chromosome 6p21.
Description
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of ... | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 | c0079154 | 7,295 | omim | https://www.omim.org/entry/615024 | 2019-09-22T15:53:27 | {"doid": ["0060719"], "mesh": ["D017490"], "omim": ["615024"], "orphanet": ["79394"]} |
Most common type of primary brain cancer in children
Medulloblastoma
CT scan, showing a tumorous mass in the posterior fossa, giving rise to obstructive hydrocephalus, in a six-year-old girl
Pronunciation
* /məˌdʌloʊblæˈstoʊmə/
SpecialtyOncology, neurosurgery
Medulloblastoma is the most common typ... | Medulloblastoma | c0206663 | 7,296 | wikipedia | https://en.wikipedia.org/wiki/Medulloblastoma | 2021-01-18T19:07:25 | {"gard": ["3963", "7005"], "mesh": ["D018242", "D008527"], "umls": ["C1334410", "C0206663", "C0025149"], "orphanet": ["616"], "wikidata": ["Q1333608"]} |
Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and l... | Bardet-Biedl syndrome 1 | c2936862 | 7,297 | gard | https://rarediseases.info.nih.gov/diseases/820/bardet-biedl-syndrome-1 | 2021-01-18T18:01:53 | {"mesh": ["C537909"], "omim": ["209900"], "umls": ["C2936862"], "orphanet": ["110"], "synonyms": ["BBS1", "Bardet-Biedl syndrome", "BBS"]} |
Schwartz–Jampel syndrome
Other namesMyotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Schwartz–Jampel syndrome is inherited in an autosomal recessive manner.
SpecialtyOrthopedic
Schwartz–Jampel syndrome (SJS) is a rare gen... | Schwartz–Jampel syndrome | c0036391 | 7,298 | wikipedia | https://en.wikipedia.org/wiki/Schwartz%E2%80%93Jampel_syndrome | 2021-01-18T18:58:48 | {"gard": ["250"], "mesh": ["D010009"], "umls": ["C0036391"], "orphanet": ["800"], "wikidata": ["Q9390341"]} |
A number sign (#) is used with this entry because cerebral creatine deficiency syndrome-3 (CCDS3), also known as arginine:glycine amidinotransferase (AGAT) deficiency, is caused by homozygous mutation in the GATM gene (602360) on chromosome 15q21.
Description
Cerebral creatine deficiency syndrome-3 is an autoso... | CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | c2675179 | 7,299 | omim | https://www.omim.org/entry/612718 | 2019-09-22T16:00:42 | {"doid": ["0050712"], "mesh": ["C567192"], "omim": ["612718"], "orphanet": ["35704"], "synonyms": ["Alternative titles", "ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY", "AGAT DEFICIENCY", "GATM DEFICIENCY", "CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY"], "genereviews": ["NBK3794"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.