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Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.
The signs and symptoms o... | Trichothiodystrophy | c1866504 | 1,300 | medlineplus | https://medlineplus.gov/genetics/condition/trichothiodystrophy/ | 2021-01-27T08:25:34 | {"gard": ["12109"], "mesh": ["D054463"], "omim": ["601675", "234050"], "synonyms": []} |
Childhood cancer
Other namesPediatric cancer
A girl trying out hats to wear after chemotherapy against a Wilms' tumor[1]
SpecialtyPediatrics, oncology
Childhood cancer is cancer in a child. In the United States, an arbitrarily adopted standard of the ages used are 0–14 years inclusive, that is, up to 14 ye... | Childhood cancer | c0278704 | 1,301 | wikipedia | https://en.wikipedia.org/wiki/Childhood_cancer | 2021-01-18T18:59:26 | {"umls": ["C0278704"], "wikidata": ["Q5097977"]} |
Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Add... | Autosomal recessive spastic paraplegia type 45 | c3888209 | 1,302 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=320396 | 2021-01-23T17:01:50 | {"omim": ["613162"], "icd-10": ["G11.4"], "synonyms": ["Autosomal recessive spastic paraplegia type 65", "SPG45", "SPG65"]} |
Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c... | Melhem-Fahl syndrome | c2931453 | 1,303 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2482 | 2021-01-23T17:44:24 | {"gard": ["3462"], "mesh": ["C537238"], "umls": ["C2931453"], "icd-10": ["Q76.4"]} |
Erythema multiforme minor
Other namesEM
SpecialtyDermatology
Erythema multiforme is usually a reaction of the skin and mucous membranes that occurs suddenly. It appears as a symmetrical rash and may include the mucous membrane lesions. This means that the body is sensitive to something that causes the skin a... | Erythema multiforme minor | c0857751 | 1,304 | wikipedia | https://en.wikipedia.org/wiki/Erythema_multiforme_minor | 2021-01-18T18:58:31 | {"umls": ["C0857751"], "icd-9": ["695.11"], "wikidata": ["Q5396393"]} |
Lymphomatoid granulomatosis is a rare disorder characterized by an overproduction of white blood cells known as B lymphocytes. These B cells can build up in the tissues of the body, causing damage to the blood vessels. In many cases of lymphomatoid granulomatosis, the abnormal B cells contain the Epstein-Barr vir... | Lymphomatoid granulomatosis | c0024307 | 1,305 | gard | https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis | 2021-01-18T17:59:17 | {"mesh": ["D008230"], "umls": ["C0024307"], "synonyms": []} |
Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal... | Porencephaly-microcephaly-bilateral congenital cataract syndrome | c3151000 | 1,306 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306547 | 2021-01-23T17:03:08 | {"omim": ["613730"]} |
Distal monosomy 4q is a partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic fe... | Distal monosomy 4q | None | 1,307 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96145 | 2021-01-23T18:15:28 | {"icd-10": ["Q93.5"], "synonyms": ["Distal deletion 4q", "Monosomy 4qter", "Telomeric deletion 4q"]} |
Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroi... | Malignant sex cord stromal tumor of ovary | c1334609 | 1,308 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35808 | 2021-01-23T16:53:09 | {"icd-10": ["C56"], "synonyms": ["Malignant ovarian SCST", "Malignant ovarian sex cord-stromal tumor"]} |
Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudativ... | Vasoproliferative tumor of the retina | None | 1,309 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353356 | 2021-01-23T17:13:33 | {"icd-10": ["D31.2"], "synonyms": ["Retinal vasoproliferative tumor", "VPTR", "Vasoproliferative tumor of the ocular fundus"]} |
## Summary
The goals of this overview on urea cycle disorders are the following:
### Goal 1.
To define the urea cycle and to describe the clinical characteristics of urea cycle disorders
### Goal 2.
To review the causes of urea cycle disorders and their prevalence
### Goal 3.
To provide an evaluation strategy ... | Urea Cycle Disorders Overview | None | 1,310 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1217/ | 2021-01-18T20:51:11 | {"synonyms": []} |
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ri... | Sterile multifocal osteomyelitis with periostitis and pustulosis | c2748507 | 1,311 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=210115 | 2021-01-23T18:31:23 | {"gard": ["10516"], "mesh": ["C557815"], "omim": ["612852"], "umls": ["C2748507"], "synonyms": ["Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency", "DIRA", "Interleukin-1 receptor antagonist deficiency", "OMPP"]} |
A number sign (#) is used with this entry because mutation in the ABCB1 gene (171050) has been found to cause colchicine resistance.
Chamla et al. (1980) described variants of human cells with altered colchicine sensitivity. These cell lines showed cross-resistance to daunomycin, emetine, vinblastine, and vincristin... | COLCHICINE RESISTANCE | c1861502 | 1,312 | omim | https://www.omim.org/entry/120080 | 2019-09-22T16:43:06 | {"omim": ["120080"], "orphanet": ["529825"], "synonyms": ["Alternative titles", "COLCHICINE SENSITIVITY"]} |
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by... | Congenital hyperinsulinism | c3888018 | 1,313 | medlineplus | https://medlineplus.gov/genetics/condition/congenital-hyperinsulinism/ | 2021-01-27T08:25:08 | {"gard": ["3947"], "mesh": ["D044903"], "omim": ["256450", "601820", "602485", "609975", "609968", "606762", "610021"], "synonyms": []} |
Treacher Collins syndrome
Other namesTreacher Collins–Franceschetti syndrome,[1] mandibulofacial dysostosis,[2] Franceschetti-Zwalen-Klein syndrome[3]
Child with Treacher Collins syndrome[4]
SpecialtyMedical genetics
SymptomsDeformities of the ears, eyes, cheekbones, chin[5]
ComplicationsBreathing problems,... | Treacher Collins syndrome | c0265241 | 1,314 | wikipedia | https://en.wikipedia.org/wiki/Treacher_Collins_syndrome | 2021-01-18T19:07:36 | {"gard": ["9124"], "mesh": ["D008342"], "umls": ["C0265241"], "icd-9": ["756.0"], "orphanet": ["861"], "wikidata": ["Q744790"]} |
Jellyfish dermatitis
Jellyfish dermatitis in back abdominal skin. Jellyfish of Mediterranean sea.
SpecialtyDermatology
Jellyfish dermatitis is a cutaneous condition caused by stings from a jellyfish.[1]:430[2]
## See also[edit]
* List of cutaneous conditions
* Skin condition
* Stingray injury
##... | Jellyfish dermatitis | c0413135 | 1,315 | wikipedia | https://en.wikipedia.org/wiki/Jellyfish_dermatitis | 2021-01-18T18:46:33 | {"umls": ["C0413135"], "icd-9": ["989.5"], "icd-10": ["T63.6"], "wikidata": ["Q6176926"]} |
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs... | Calpain-3-related limb-girdle muscular dystrophy R1 | c1869123 | 1,316 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=267 | 2021-01-23T19:00:42 | {"gard": ["1057"], "mesh": ["C535895"], "omim": ["253600", "618129"], "umls": ["C1869123"], "icd-10": ["G71.0"], "synonyms": ["Autosomal recessive limb-girdle muscular dystrophy type 2A", "Calpain-3-related LGMD R1", "LGMD type 2A", "LGMD2A", "Limb-girdle muscular dystrophy due to calpain deficiency", "Limb-girdle musc... |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 3q29.
Clinical Features
Willatt et al. (2005) reported the identification of 6 patients with 3q29 microdeletion syndrome. The clinical phenotype was variable despite an almost identical deletion size. T... | CHROMOSOME 3q29 DELETION SYNDROME | c2674949 | 1,317 | omim | https://www.omim.org/entry/609425 | 2019-09-22T16:06:05 | {"doid": ["0060419"], "mesh": ["C567184"], "omim": ["609425"], "orphanet": ["65286"], "synonyms": ["Alternative titles", "MICRODELETION 3q29 SYNDROME"], "genereviews": ["NBK385289"]} |
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.
## Epidemiology
The prevalence is unknown; about 50 cases have been reported to date.
## Clinical de... | DOORS syndrome | c0795927 | 1,318 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79500 | 2021-01-23T18:58:14 | {"gard": ["1685"], "mesh": ["C538204"], "omim": ["220500"], "umls": ["C0795927"], "icd-10": ["Q87.8"], "synonyms": ["Autosomal recessive deafness-onychodystrophy syndrome", "Autosomal recessive hearing loss-onychodystrophy syndrome", "DOOR syndrome", "Deafness-onychodystrophy-osteodystrophy-intellectual disability synd... |
A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occ... | Frontonasal dysplasia | c1876203 | 1,319 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=250 | 2021-01-23T18:00:44 | {"gard": ["2392"], "mesh": ["C538065"], "umls": ["C0432106", "C1876203"], "icd-10": ["Q75.8"], "synonyms": ["Median cleft face syndrome"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (February 2018)
Tracheobronchopathia osteochondroplastica
Other namesTracheopathia osteoplastica
Tracheobronchopathia osteochondroplastica is inherite... | Tracheobronchopathia osteochondroplastica | c0520538 | 1,320 | wikipedia | https://en.wikipedia.org/wiki/Tracheobronchopathia_osteochondroplastica | 2021-01-18T19:06:29 | {"gard": ["5235"], "mesh": ["C536977"], "umls": ["C0520538"], "icd-10": ["J98.0"], "orphanet": ["3348"], "wikidata": ["Q4338645"]} |
Jestico et al. (1985) described 2 brothers and 3 of their maternal uncles who developed neuropathic deformities and ulceration of the feet in the first and second decades of life with slow progression over many years. In this form of hereditary sensory and autonomic neuropathy, there was minimal tendon reflex imp... | NEUROPATHY, HEREDITARY SENSORY, X-LINKED | c1839602 | 1,321 | omim | https://www.omim.org/entry/310470 | 2019-09-22T16:17:33 | {"mesh": ["C564090"], "omim": ["310470"]} |
Rubeosis iridis
Other namesNeovascularization of the iris
SpecialtyOphthalmology
Rubeosis iridis, is a medical condition of the iris of the eye in which new abnormal blood vessels (formed by neovascularization) are found on the surface of the iris.[1]
## Contents
* 1 Causes
* 2 Pathophysiology
* 3 Tr... | Rubeosis iridis | c0154916 | 1,322 | wikipedia | https://en.wikipedia.org/wiki/Rubeosis_iridis | 2021-01-18T18:50:17 | {"umls": ["C0154916"], "icd-10": ["H21.1"], "wikidata": ["Q3297012"]} |
## Description
Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is a... | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I | c1866784 | 1,323 | omim | https://www.omim.org/entry/182960 | 2019-09-22T16:34:34 | {"doid": ["0111200"], "mesh": ["C566675"], "omim": ["182960"], "orphanet": ["139518"], "synonyms": ["Alternative titles", "HMN I", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE I", "SPINAL MUSCULAR ATROPHY, DISTAL, JUVENILE, AUTOSOMAL DOMINANT, I", "CHARCOT-MARIE-TOOTH DISEASE, SPINAL, I"]} |
A number sign (#) is used with this entry because of evidence that neonatal inflammatory skin and bowel disease-2 (NISBD2) is caused by homozygous mutation in the EGFR gene (131550) on chromosome 7p11. One such family has been reported.
For a discussion of genetic heterogeneity of neonatal inflammatory skin and bowe... | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 | c4015130 | 1,324 | omim | https://www.omim.org/entry/616069 | 2019-09-22T15:50:00 | {"omim": ["616069"], "orphanet": ["294023"], "synonyms": []} |
A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bila... | Klüver-Bucy syndrome | c0270707 | 1,325 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157823 | 2021-01-23T18:29:18 | {"gard": ["6840"], "mesh": ["D020232"], "umls": ["C0270707"]} |
Windblown hand is a hand deformity that is present from birth. The cause of this deformity is unknown. People with windblown hand have flexion contractures of the joints at the base of each finger that prevents normal mobility of their hand and causes their fingers to bend toward their "little" finger (i.e., ulnar dr... | Windblown hand | c0431875 | 1,326 | gard | https://rarediseases.info.nih.gov/diseases/10276/windblown-hand | 2021-01-18T17:57:05 | {"umls": ["C0431875"], "synonyms": ["Congenital ulnar drift", "Windswept hand", "Congenital contractures of the digits"]} |
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia,... | Lissencephaly due to LIS1 mutation | c0431375 | 1,327 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95232 | 2021-01-23T18:10:17 | {"mesh": ["D054221"], "omim": ["607432"], "icd-10": ["Q04.3"], "synonyms": ["PAFAH1B1-related lissencephaly"]} |
Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weaknes... | Osteochondritis dissecans | c0029421 | 1,328 | gard | https://rarediseases.info.nih.gov/diseases/12703/osteochondritis-dissecans | 2021-01-18T17:58:33 | {"mesh": ["D010008"], "orphanet": ["2764"], "synonyms": ["Kônig disease", "König disease"]} |
A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-20 (DBA20) is caused by heterozygous mutation in the RPS15A gene (603674) on chromosome 16p. One such family has been reported.
For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan a... | DIAMOND-BLACKFAN ANEMIA 20 | c1260899 | 1,329 | omim | https://www.omim.org/entry/618313 | 2019-09-22T15:42:31 | {"mesh": ["D029503"], "omim": ["618313"], "orphanet": ["124"], "genereviews": ["NBK7047"]} |
A number sign (#) is used with this entry because X-linked dyskeratosis congenita (DKCX) is caused by mutation in the (DKC1; 300126) gene on chromosome Xq28.
Description
Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It i... | DYSKERATOSIS CONGENITA, X-LINKED | c1846142 | 1,330 | omim | https://www.omim.org/entry/305000 | 2019-09-22T16:18:27 | {"doid": ["0070025"], "mesh": ["C536068"], "omim": ["305000"], "orphanet": ["3322", "1775"], "synonyms": ["Alternative titles", "ZINSSER-COLE-ENGMAN SYNDROME"], "genereviews": ["NBK22301"]} |
A fear of children
Fear of children
Other namesPedophobia, paedophobia, pediaphobia
SpecialtyPsychiatry
Fear of children, hatred of children, or occasionally called pedophobia, is fear triggered by the presence or thinking of children or infants. It is an emotional state of fear, disdain, aversion, or preju... | Fear of children | None | 1,331 | wikipedia | https://en.wikipedia.org/wiki/Fear_of_children | 2021-01-18T19:00:58 | {"wikidata": ["Q2157065"]} |
A number sign (#) is used with this entry because of evidence that familial candidiasis-9 (CANDF9) is caused by homozygous mutation in the IL17RC gene (610925) on chromosome 3p25.
For a general description and a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 (114580).
Clinical Features
... | CANDIDIASIS, FAMILIAL, 9 | c0006845 | 1,332 | omim | https://www.omim.org/entry/616445 | 2019-09-22T15:48:53 | {"doid": ["2058"], "mesh": ["D002178"], "omim": ["616445"], "orphanet": ["1334"]} |
A number sign (#) is used with this entry because of evidence that holoprosencephaly-3 (HPE3) is caused by heterozygous mutation in the SHH gene (600725), which encodes the human Sonic hedgehog homolog, on chromosome 7q36.
For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, s... | HOLOPROSENCEPHALY 3 | c0079541 | 1,333 | omim | https://www.omim.org/entry/142945 | 2019-09-22T16:40:10 | {"doid": ["0110875"], "mesh": ["D016142"], "omim": ["142945"], "orphanet": ["2162"], "synonyms": ["Alternative titles", "HLP3"], "genereviews": ["NBK1378", "NBK1530"]} |
Reactive hypoglycemia
Other namesPostprandial hypoglycemia, sugar crash
SymptomsClumsiness, difficulty talking, confusion, loss of consciousness, and other symptoms related to hypoglycemia
Usual onsetWithin 4 hours of a high carbohydrate meal
CausesGastric bypass surgery, over-secretion of insulin
Diagnosti... | Reactive hypoglycemia | c0271710 | 1,334 | wikipedia | https://en.wikipedia.org/wiki/Reactive_hypoglycemia | 2021-01-18T18:46:33 | {"mesh": ["D007003"], "icd-9": ["251.2"], "wikidata": ["Q1408148"]} |
A number sign (#) is used with this entry because of evidence that pontocerebellar hypoplasia type 1A (PCH1A) is caused by homozygous mutation in the VRK1 gene (602168) on chromosome 14q32.
Description
Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and ... | PONTOCEREBELLAR HYPOPLASIA, TYPE 1A | c1843504 | 1,335 | omim | https://www.omim.org/entry/607596 | 2019-09-22T16:09:01 | {"doid": ["0060265"], "mesh": ["C548069"], "omim": ["607596"], "orphanet": ["2254"], "synonyms": ["Alternative titles", "PCH1", "PONTOCEREBELLAR HYPOPLASIA WITH INFANTILE SPINAL MUSCULAR ATROPHY", "PONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL DISEASE"]} |
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys gener... | 48,XYYY syndrome | c4518082 | 1,336 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99329 | 2021-01-23T19:08:06 | {"gard": ["11985"], "icd-10": ["Q98.8"]} |
Pneumocytic hyperplasia is an hyperplasia of pneumocytes lining pulmonary alveoli.
## Types[edit]
* Pulmonary atypical adenomatous hyperplasia
* Multifocal micronodular pneumocyte hyperplasia[1][2][3][4][5]
## References[edit]
1. ^ Behnes, C. L.; Schütze, G; Engelke, C; Bremmer, F; Gunawan, B; Radzun, H. J.... | Pneumocytic hyperplasia | None | 1,337 | wikipedia | https://en.wikipedia.org/wiki/Pneumocytic_hyperplasia | 2021-01-18T18:39:45 | {"wikidata": ["Q16886592"]} |
A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiph... | Schwartz-Jampel syndrome | c0036391 | 1,338 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=800 | 2021-01-23T19:00:20 | {"gard": ["250"], "mesh": ["D010009"], "omim": ["255800"], "umls": ["C0036391"], "icd-10": ["G71.1", "Q78.8"], "synonyms": ["Aberfeld syndrome", "Burton skeletal dysplasia", "Burton syndrome", "Catel-Hempel syndrome", "Dysostosis enchondralis metaepiphysaria, Catel-Hempel type", "Myotonic chondrodystrophy", "Myotonic m... |
Desmoplastic trichoepithelioma is a benign neoplasm with follicular differentiation. It was described as a distinctive clinicopathologic entity by Brownstein and Shapiro (1976, 1977) and MacDonald et al. (1977). Brownstein and Shapiro (1976) described desmoplastic trichoepitheliomas as 'a variant of solitary trichoep... | TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC | c1860849 | 1,339 | omim | https://www.omim.org/entry/190345 | 2019-09-22T16:32:22 | {"mesh": ["C566034"], "omim": ["190345"]} |
A number sign (#) is used with this entry because of evidence that capillary malformation-arteriovenous malformation-1 (CMAVM1) is caused by heterozygous mutation in the RASA1 gene (139150) on chromosome 5q14.
Description
Capillary malformation-arteriovenous malformation-1 is an autosomal dominant disorder characte... | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | c0022739 | 1,340 | omim | https://www.omim.org/entry/608354 | 2019-09-22T16:07:56 | {"mesh": ["D007715"], "omim": ["608354"], "orphanet": ["2346", "90307", "137667"], "synonyms": ["Alternative titles", "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION"], "genereviews": ["NBK52764"]} |
Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.
... | Pseudo-von Willebrand disease | c1280798 | 1,341 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=52530 | 2021-01-23T17:06:41 | {"gard": ["8312"], "mesh": ["C536458"], "omim": ["177820"], "umls": ["C1280798"], "icd-10": ["D69.8"], "synonyms": ["PT-VWD", "Platelet type-von Willebrand disease", "Pseudo-von Willebrand disease type 2B"]} |
A number sign (#) is used with this entry because the Duffy blood group system (Fy) is based on variation in the ACKR1 gene (613665) on chromosome 1q23.
Complete resistance to infection by the malarial parasite Plasmodium vivax (see 611162) is associated with the Duffy phenotype Fy(a-b-), which results from a polymo... | BLOOD GROUP, DUFFY SYSTEM | c1970105 | 1,342 | omim | https://www.omim.org/entry/110700 | 2019-09-22T16:44:23 | {"omim": ["110700"], "synonyms": ["Alternative titles", "DUFFY BLOOD GROUP SYSTEM"]} |
Not to be confused with Serotonin syndrome.
Antidepressant discontinuation syndrome
Other namesAntidepressant withdrawal syndrome[1]
SpecialtyPsychiatry
SymptomsFlu-like symptoms, trouble sleeping, nausea, poor balance, sensory changes[2]
Usual onsetWithin 3 days[2]
DurationFew weeks to months[3][4]
Caus... | Antidepressant discontinuation syndrome | c4509470 | 1,343 | wikipedia | https://en.wikipedia.org/wiki/Antidepressant_discontinuation_syndrome | 2021-01-18T18:57:53 | {"umls": ["CL777146"], "wikidata": ["Q175918"]} |
A number sign (#) is used with this entry because congenital dyserythropoietic anemia type Ib (CDAN1B) is caused by homozygous mutation in the C15ORF41 gene (615626) on chromosome 15q14.
Description
Congenital dyserythropoietic anemia type I is an autosomal recessive hematologic disorder characterized by congen... | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | c0271933 | 1,344 | omim | https://www.omim.org/entry/615631 | 2019-09-22T15:51:23 | {"doid": ["1338"], "mesh": ["D000742"], "omim": ["615631"], "orphanet": ["98869"], "synonyms": ["Alternative titles", "CDA, TYPE Ib"], "genereviews": ["NBK5313"]} |
A number sign (#) is used with this entry because inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD1) is caused by heterozygous mutation in the VCP gene (601023) on chromosome 9p13.
See also amyotrophic lateral sclerosis-14 with or without frontotemporal dementia (ALS14; 613954), which i... | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 | c1833662 | 1,345 | omim | https://www.omim.org/entry/167320 | 2019-09-22T16:36:46 | {"doid": ["0050881"], "mesh": ["C563476"], "omim": ["167320"], "orphanet": ["52430"], "synonyms": ["Alternative titles", "MULTISYSTEM PROTEINOPATHY 1", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE", "PAGETOID AMYOTROPHIC LATERAL SCLEROSIS", "PAGETOID NEUROSKELETAL SYNDROME", "LOWER MOTOR NEURON DEGENERA... |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-73 (EIEE73) is caused by heterozygous mutation in the RNF13 gene (609247) on chromosome 3q25.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see 308350.
Clinical Featu... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73 | None | 1,346 | omim | https://www.omim.org/entry/618379 | 2019-09-22T15:42:13 | {"omim": ["618379"]} |
Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.
## Epidemiology
Prevalence and incidence ar... | Choreoacanthocytosis | c0393576 | 1,347 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2388 | 2021-01-23T18:12:28 | {"gard": ["3956"], "mesh": ["D054546"], "omim": ["200150"], "umls": ["C0393576"], "icd-10": ["E78.6"], "synonyms": ["ChAc", "Chorea-acanthocytosis", "Levine-Critchley syndrome"]} |
Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutatio... | Muckle-Wells syndrome | c0268390 | 1,348 | gard | https://rarediseases.info.nih.gov/diseases/8472/muckle-wells-syndrome | 2021-01-18T17:58:57 | {"mesh": ["D056587"], "omim": ["191900"], "umls": ["C0268390"], "orphanet": ["575"], "synonyms": ["Urticaria, deafness and amyloidosis", "Urticaria-deafness-amyloidosis syndrome", "UDA syndrome", "Muckle Wells syndrome"]} |
Rectal pain
SpecialtyGeneral surgery
Rectal pain is the symptom of pain in the area of the rectum. A number of different causes (68) have been documented.[1]
## Contents
* 1 Differential diagnosis
* 1.1 Anal fissures
* 1.2 LAS and proctalgia fugax
* 1.3 Anorectal abscess
* 1.4 Infections
... | Rectal pain | c0034886 | 1,349 | wikipedia | https://en.wikipedia.org/wiki/Rectal_pain | 2021-01-18T19:00:15 | {"umls": ["C0034886"], "wikidata": ["Q7303135"]} |
Trauma in children
Other namesPediatric trauma
A gunshot wound to the left thigh showing entry and exit wound of a 3 year old girl.
SpecialtyEmergency medicine
Trauma in children, also known as pediatric trauma, refers to a traumatic injury that happens to an infant, child or adolescent. Because of ana... | Trauma in children | None | 1,350 | wikipedia | https://en.wikipedia.org/wiki/Trauma_in_children | 2021-01-18T18:55:37 | {"wikidata": ["Q7159235"]} |
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 2013) (Learn how and when to remove this template message)
Cuterebriasis is a ... | Cuterebriasis | None | 1,351 | wikipedia | https://en.wikipedia.org/wiki/Cuterebriasis | 2021-01-18T19:04:44 | {"wikidata": ["Q4249499"]} |
Ectopia lentis
Ectopia Lentis in Marfan syndrome. Zonular fibers are being seen.
SpecialtyMedical genetics
Anterior lens luxation in a dog
Anterior lens luxation with cataract formation in a cat
Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location. A partia... | Ectopia lentis | c0013581 | 1,352 | wikipedia | https://en.wikipedia.org/wiki/Ectopia_lentis | 2021-01-18T18:52:09 | {"mesh": ["D004479"], "icd-9": ["743.37"], "icd-10": ["H27.1", "Q12.1"], "orphanet": ["1885"], "wikidata": ["Q1827028"]} |
Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, co... | Sternal cleft | c2931507 | 1,353 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2017 | 2021-01-23T17:33:08 | {"gard": ["5012"], "mesh": ["C537489"], "umls": ["C0265696", "C2931507"], "icd-10": ["Q76.7"], "synonyms": ["Cleft sternum", "Sternum bifidum"]} |
Dense deposit disease (DDD) is a condition that primarily affects kidney function. Signs and symptoms usually start between the ages of 5 and 15 but may also begin in adulthood. The major features of DDD are due to kidney malfunction, and often include proteinuria; hematuria; reduced amounts of urine; low levels of p... | Dense deposit disease | c0268743 | 1,354 | gard | https://rarediseases.info.nih.gov/diseases/8555/dense-deposit-disease | 2021-01-18T18:00:56 | {"mesh": ["D015432"], "omim": ["609814"], "orphanet": ["93571"], "synonyms": ["Glomerulonephritis membranoproliferative type 2", "Mesangiocapillary glomerulonephritis type 2", "MPGN 2", "Membranoproliferative glomerulonephritis type II", "DDD", "Membranoproliferative glomerulonephritis type 2"]} |
Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly Hymenolepis nana, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, di... | Hymenolepiasis | c0020413 | 1,355 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401 | 2021-01-23T17:21:24 | {"gard": ["2787"], "mesh": ["D006925"], "umls": ["C0020413"], "icd-10": ["B71.0"]} |
Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.
## Epidemiology
The various types of isolated brachydactyly are rare, except for types A3 and D.
## Clinical description
Br... | Dysostosis with brachydactyly | None | 1,356 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69028 | 2021-01-23T17:41:12 | {"icd-10": ["Q73.8"]} |
Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.
*[v]: View th... | Neonatal iodine exposure | None | 1,357 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238688 | 2021-01-23T18:18:31 | {"icd-10": ["P72.2"]} |
Mast cell activation syndrome (MCAS), is an immunological condition in which mast cells mistakenly release too many chemical mediators, resulting in several chronic symptoms involving the skin, gastrointestinal tract, heart, respiratory, and neurologic systems. Mast cells are present throughout most of our bodies and... | Mast cell activation syndrome | c0024899 | 1,358 | gard | https://rarediseases.info.nih.gov/diseases/12981/mast-cell-activation-syndrome | 2021-01-18T17:59:13 | {"mesh": ["D008415"], "icd-10": ["D89.40 "], "synonyms": ["MCAS"]} |
Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of wor... | Heavy metal poisoning | c0274869 | 1,359 | gard | https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning | 2021-01-18T18:00:08 | {"mesh": ["D000075322"], "umls": ["C0274869"], "synonyms": ["Chronic heavy metal poisoning", "Heavy Metal Toxicity"]} |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and,... | Subaortic stenosis-short stature syndrome | c0795947 | 1,360 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3191 | 2021-01-23T18:12:40 | {"gard": ["405"], "mesh": ["C537749"], "omim": ["271960"], "umls": ["C0795947"], "synonyms": ["Onat syndrome"]} |
Auricular hypertrichosis
SpecialtyOtology
Auricular hypertrichosis (hypertrichosis lanuginosa acquisita, hypertrichosis pinnae auris) is a genetic condition expressed as long and strong hairs growing from the helix of the pinna.[1][page needed]
## Contents
* 1 Presentation
* 2 Genetics
* 3 See also
*... | Auricular hypertrichosis | c0263482 | 1,361 | wikipedia | https://en.wikipedia.org/wiki/Auricular_hypertrichosis | 2021-01-18T18:44:51 | {"mesh": ["C562484"], "umls": ["C0263482"], "wikidata": ["Q9003892"]} |
Lymphocytic meningoradiculitis
Other namesBannwarth Syndrome
Lymphocytic meningoradiculitis, also known as Bannwarth syndrome, is a neurological disease characterized as intense nerve pain radiating from the spine.[1] The disease is caused by an infection of Borrelia burgdorferi, a tick-borne spirochete bacter... | Lymphocytic meningoradiculitis | None | 1,362 | wikipedia | https://en.wikipedia.org/wiki/Lymphocytic_meningoradiculitis | 2021-01-18T18:41:54 | {"umls": ["CL512094"], "wikidata": ["Q806910"]} |
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
## Epidemiology
The prevalence is unknown but is very rare. At least 100 patients with sulfite oxidase deficiency have been reported with approximately 7... | Encephalopathy due to sulfite oxidase deficiency | c1854988 | 1,363 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=833 | 2021-01-23T18:51:04 | {"mesh": ["C565372"], "omim": ["252150", "252160", "272300", "615501"], "icd-10": ["E72.1"]} |
Type of lymphoma
Diffuse large B cell lymphoma
Other namesDLBCL or DLBL
Micrograph (Field stain) of a diffuse large B cell lymphoma.
SpecialtyHematology, oncology, dermatology
Diffuse large B-cell lymphoma (DLBCL) is a cancer of B cells, a type of lymphocyte that is responsible for producing antibodies. I... | Diffuse large B-cell lymphoma | c0079744 | 1,364 | wikipedia | https://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma | 2021-01-18T18:46:55 | {"gard": ["3178"], "mesh": ["D016403"], "umls": ["C0079744"], "icd-10": ["C83.3"], "orphanet": ["544"], "wikidata": ["Q2626074"]} |
Disease caused by Rinderpest morbillivirus
Rinderpest morbillivirus
Virus classification
(unranked): Virus
Realm: Riboviria
Kingdom: Orthornavirae
Phylum: Negarnaviricota
Class: Monjiviricetes
Order: Mononegavirales
Family: Paramyxoviridae
Genus: Morbillivirus
Species:
Rinderpest mor... | Rinderpest | c0035637 | 1,365 | wikipedia | https://en.wikipedia.org/wiki/Rinderpest | 2021-01-18T18:35:58 | {"mesh": ["D012301"], "wikidata": ["Q157008"]} |
An AV fistula.
A Cimino fistula, also Cimino-Brescia fistula, surgically created arteriovenous fistula and (less precisely) arteriovenous fistula (often abbreviated AV fistula or AVF), is a type of vascular access for hemodialysis. It is typically a surgically created connection between an artery and a vein in t... | Cimino fistula | None | 1,366 | wikipedia | https://en.wikipedia.org/wiki/Cimino_fistula | 2021-01-18T18:28:01 | {"mesh": ["D001166"], "wikidata": ["Q1092122"]} |
Human disease caused by West Nile virus infection
This article is about the disease. For the virus, see West Nile virus.
West Nile fever
West Nile virus
SpecialtyInfectious disease
SymptomsNone, fever, headache, vomiting or diarrhea and muscle aches rash[1]
ComplicationsEncephalitis, meningitis[1]
Usual o... | West Nile fever | c0043124 | 1,367 | wikipedia | https://en.wikipedia.org/wiki/West_Nile_fever | 2021-01-18T18:36:23 | {"mesh": ["D014901"], "umls": ["C0043124"], "icd-9": ["066.3"], "icd-10": ["A92.3"], "wikidata": ["Q11627066"]} |
A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients w... | Aspergillosis | c0004030 | 1,368 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1163 | 2021-01-23T17:14:08 | {"gard": ["5856"], "mesh": ["D001228"], "omim": ["614079"], "umls": ["C0004030"], "icd-10": ["B44.0", "B44.1", "B44.2", "B44.7", "B44.8", "B44.9"]} |
A number sign (#) is used with this entry because of evidence that B-cell expansion with NFKB and T-cell anergy (BENTA) is caused by heterozygous mutation in the CARD11 gene (607210) on chromosome 7p22.
Description
B-cell expansion with NFKB and T-cell anergy is an autosomal dominant disorder characterized by onset... | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | c4551967 | 1,369 | omim | https://www.omim.org/entry/616452 | 2019-09-22T15:48:51 | {"omim": ["616452"], "orphanet": ["464336"], "synonyms": ["B-cell expansion with NF-kB and T-cell anergy disease"]} |
Absence of a menstrual period in a woman of reproductive age
Amenorrhea
Other namesAmenorrhea, amenorrhœa
SpecialtyGynecology
Amenorrhea is the absence of a menstrual period in a woman of reproductive age.[1] Physiological states of amenorrhoea are seen, most commonly, during pregnancy and lactation (breast... | Amenorrhea | c0002453 | 1,370 | wikipedia | https://en.wikipedia.org/wiki/Amenorrhea | 2021-01-18T18:41:00 | {"mesh": ["D000568"], "umls": ["C0002453", "C2219717"], "wikidata": ["Q334655"]} |
A number sign (#) is used with this entry because the genetic defect in leukocyte adhesion deficiency (also known as LFA-1 immunodeficiency and by several other designations) has been shown to reside in the gene encoding the beta-2 integrin chain (ITGB2; 600065), a subunit that is common to 3 cell adhesion molecu... | LEUKOCYTE ADHESION DEFICIENCY, TYPE I | c0242597 | 1,371 | omim | https://www.omim.org/entry/116920 | 2019-09-22T16:43:36 | {"doid": ["0110910"], "mesh": ["D018370"], "omim": ["116920"], "orphanet": ["2968", "99842"], "synonyms": ["Alternative titles", "LAD1", "LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN 1 IMMUNODEFICIENCY", "LFA1 IMMUNODEFICIENCY"]} |
## Summary
### Clinical characteristics.
Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney ... | Dent Disease | c0878681 | 1,372 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK99494/ | 2021-01-18T21:31:03 | {"mesh": ["D057973"], "synonyms": []} |
Factor XII deficiency
Other namesHageman factor deficiency
SpecialtyHematology, medical genetics
Factor XII deficiency is a deficiency in the production of factor XII (FXII), a plasma glycoprotein and clotting factor that participates in the coagulation cascade and activates factor XI. FXII appears to be not... | Factor XII deficiency | c0015526 | 1,373 | wikipedia | https://en.wikipedia.org/wiki/Factor_XII_deficiency | 2021-01-18T18:31:28 | {"gard": ["6558"], "mesh": ["D005175"], "umls": ["C0015526"], "orphanet": ["330"], "wikidata": ["Q2841213"]} |
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sp... | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | c3150706 | 1,374 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306542 | 2021-01-23T18:00:44 | {"gard": ["12640"], "omim": ["613456"], "synonyms": ["ALX1-related frontonasal dysplasia", "Frontonasal dysplasia type 3"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spastic paraplegia-78 (SPG78) is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene (610513) on chromosome 1p36.
Description
Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative di... | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE | c4310662 | 1,375 | omim | https://www.omim.org/entry/617225 | 2019-09-22T15:46:25 | {"omim": ["617225"], "orphanet": ["513436"], "synonyms": ["SPG78"]} |
Post-LASIK ectasia is a condition similar to keratoconus where the cornea starts to bulge forwards at a variable time after LASIK, PRK, or SMILE corneal laser eye surgery.[1]
## Risk factors[edit]
Before corneal refractive surgery such as LASIK, SMILE, and PRK, people must be examined for possible risk factors such... | Post-LASIK ectasia | c1531855 | 1,376 | wikipedia | https://en.wikipedia.org/wiki/Post-LASIK_ectasia | 2021-01-18T18:45:44 | {"umls": ["C1531855"], "wikidata": ["Q25312769"]} |
## Clinical Features
Cranial and facial hyperostosis results in a characteristic clinical and radiographic appearance. The diaphyses of the bones are generally expanded. Halliday (1949) and Stransky et al. (1962) reported isolated cases with similar findings. Facial and cranial thickening and distortion are par... | CRANIODIAPHYSEAL DYSPLASIA | c0410539 | 1,377 | omim | https://www.omim.org/entry/218300 | 2019-09-22T16:29:17 | {"doid": ["0080032"], "mesh": ["C562940"], "omim": ["218300"], "orphanet": ["1513"]} |
Not to be confused with Potter sequence.
Doege–Potter syndrome
The structure of IGF-2, responsible for the hypoglycemia associated with Doege–Potter syndrome
SpecialtyOncology
Doege–Potter syndrome (DPS) is a paraneoplastic syndrome[1] in which hypoglycemia is associated with solitary fibrous tumors. The hy... | Doege–Potter syndrome | None | 1,378 | wikipedia | https://en.wikipedia.org/wiki/Doege%E2%80%93Potter_syndrome | 2021-01-18T18:42:05 | {"wikidata": ["Q1234529"]} |
A number sign (#) is used with this entry because Dyggve-Melchior-Clausen disease (DMC) is caused by homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. Mutations in the same gene cause Smith-McCort dysplasia-1 (607326).
Clinical Features
Among the children from an uncle-n... | DYGGVE-MELCHIOR-CLAUSEN DISEASE | c0265286 | 1,379 | omim | https://www.omim.org/entry/223800 | 2019-09-22T16:28:35 | {"doid": ["0111167"], "mesh": ["C535726"], "omim": ["223800"], "orphanet": ["239"]} |
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-... | Osteopetrosis autosomal recessive 1 | c1850127 | 1,380 | gard | https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1 | 2021-01-18T17:58:31 | {"mesh": ["C564915"], "omim": ["259700"], "umls": ["C1850127"], "synonyms": ["OPTB1", "Autosomal recessive osteopetrosis type 1", "Osteopetrosis infantile malignant 1", "Marble bones autosomal recessive"]} |
## Summary
### Clinical characteristics.
Troyer syndrome is characterized by progressive spastic paraparesis, dysarthria, pseudobulbar palsy, distal amyotrophy, short stature, and subtle skeletal abnormalities. Most affected children exhibit delays in walking and speech and difficulty in managing oral secretions, f... | Troyer Syndrome | c0393559 | 1,381 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1382/ | 2021-01-18T20:52:07 | {"mesh": ["C536858"], "synonyms": ["SPG20"]} |
Vibratory angioedema
SpecialtyDermatology
Vibratory angioedema is a form of physical urticaria that may be an inherited autosomal dominant trait,[1] or may be acquired after prolonged exposure to occupational vibration.[2]:155[3]
## See also[edit]
* Urticaria
* Skin lesion
* List of cutaneous condition... | Vibratory angioedema | c0473546 | 1,382 | wikipedia | https://en.wikipedia.org/wiki/Vibratory_angioedema | 2021-01-18T19:06:10 | {"mesh": ["C536347"], "umls": ["C0473546"], "orphanet": ["493348"], "wikidata": ["Q7924673"]} |
A ganglioglioma is a rare type of brain tumor, accounting for approximately 1% of all brain tumors. Gangliogliomas occur when a single cell in the brain starts to divide into more cells, forming a tumor. This can occur when the cell randomly acquires changes (mutations) in genes that regulate how a cell divides. ... | Ganglioglioma | c0206716 | 1,383 | gard | https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma | 2021-01-18T18:00:22 | {"mesh": ["D018303"], "umls": ["C0206716"], "synonyms": ["Mixed cell tumors containing both neural ganglionic cells and neural glial cell components"]} |
Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.
## Epidemiology
LAD-II is extremely rare: less than 10 cases have been reported so far.
## Clinical description
The first signs usua... | Leukocyte adhesion deficiency type II | c0398739 | 1,384 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99843 | 2021-01-23T18:37:04 | {"gard": ["4634"], "mesh": ["C535755"], "omim": ["266265"], "umls": ["C0398739"], "icd-10": ["D84.8"], "synonyms": ["CDG syndrome type IIc", "CDG-IIc", "CDG2C", "LAD-II", "Rambam-Hasharon syndrome", "SLC35C1-CDG"]} |
Fibromatosis colli (also known as sternomastoid tumor of infancy) is a benign proliferation of fibrous tissue infiltrating the lower third of the sternocleidomastoid, (SCM) and is the most common cause of neonatal torticollis.[1]
The mass, also known as a hematoma of the sternocleidomastoid, is firm and hard on palp... | Fibromatosis colli | c0549175 | 1,385 | wikipedia | https://en.wikipedia.org/wiki/Fibromatosis_colli | 2021-01-18T18:53:02 | {"umls": ["C0549175"], "wikidata": ["Q5446471"]} |
## Clinical Features
Tranebjaerg et al. (1988) described 4 males, the sons of 2 sisters, with a syndrome of mental retardation, seizures, and psoriasis. Normal levels of steroid sulfatase excluded X-linked ichthyosis, which the lesions resembled somewhat at certain stages of their evolution.
Inheritance \- ... | MENTAL RETARDATION AND PSORIASIS | c2931381 | 1,386 | omim | https://www.omim.org/entry/309480 | 2019-09-22T16:17:52 | {"mesh": ["C536978"], "omim": ["309480"], "orphanet": ["3052"]} |
A number sign (#) is used with this entry because of evidence that osteogenesis imperfecta type V (OI5) is caused by heterozygous mutation in the IFITM5 gene (614757), encoding interferon-induced transmembrane protein-5, on chromosome 11p15.
Description
Osteogenesis imperfecta is a connective tissue disorder charac... | OSTEOGENESIS IMPERFECTA, TYPE V | c2931093 | 1,387 | omim | https://www.omim.org/entry/610967 | 2019-09-22T16:03:52 | {"doid": ["0110344"], "mesh": ["C567042", "C536046"], "omim": ["610967"], "orphanet": ["216828", "666"], "synonyms": ["Alternative titles", "OI, TYPE V"]} |
A number sign (#) is used with this entry because combined oxidative phosphorylation deficiency-15 (COXPD15) is caused by homozygous or compound heterozygous mutation in the MTFMT gene (611766) on chromosome 15q22.
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1... | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 | c3554182 | 1,388 | omim | https://www.omim.org/entry/614947 | 2019-09-22T15:53:34 | {"doid": ["0060286"], "omim": ["614947"], "orphanet": ["319524"], "synonyms": ["COXPD15"]} |
In Chinese alchemy, elixir poisoning refers to the toxic effects from elixirs of immortality that contained metals and minerals such as mercury and arsenic. The official Twenty-Four Histories record numerous Chinese emperors, nobles, and officials who died from taking elixirs in order to prolong their lifespans. The ... | Chinese alchemical elixir poisoning | None | 1,389 | wikipedia | https://en.wikipedia.org/wiki/Chinese_alchemical_elixir_poisoning | 2021-01-18T18:38:37 | {"wikidata": ["Q28419338"]} |
Hori's nevus
SpecialtyDermatology
Hori's nevus (also known as "Acquired bilateral nevus of Ota-like macules"[1]) is a cutaneous condition characterized by multiple brown–gray to brown–blue macules, primarily in the malar region of the face.[1]
## See also[edit]
* Nevus of Ota
* List of cutaneous conditio... | Hori's nevus | None | 1,390 | wikipedia | https://en.wikipedia.org/wiki/Hori%27s_nevus | 2021-01-18T18:38:38 | {"wikidata": ["Q16910705"]} |
## Summary
### Clinical characteristics.
The MPPH syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviation... | MPPH Syndrome | c4302893 | 1,391 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK396098/ | 2021-01-18T21:13:03 | {"synonyms": ["Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome", "Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome"]} |
This article is about the disease. For the parasite, see Loa loa.
"Eye worm" redirects here. For another parasitic nematode known as "eye worm", see Thelazia.
Loa loa
Other namesloiasis, loaiasis, Calabar swellings, fugitive swelling, tropical swelling,[1]:439 African eyeworm
Loa loa microfilaria in thin blood ... | Loa loa filariasis | c0023968 | 1,392 | wikipedia | https://en.wikipedia.org/wiki/Loa_loa_filariasis | 2021-01-18T18:30:33 | {"gard": ["3283"], "mesh": ["D008118"], "umls": ["C0023968"], "orphanet": ["2404"], "wikidata": ["Q1760607"]} |
A number sign (#) is used with this entry because of evidence that familial MTC occurs from mutation in the RET gene (164761) on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene (191315) located on 1q21-q22.
Description
Medullary thyroid carcinoma (MTC) is a malignant tumor of the c... | THYROID CARCINOMA, FAMILIAL MEDULLARY | c1833921 | 1,393 | omim | https://www.omim.org/entry/155240 | 2019-09-22T16:38:30 | {"doid": ["0050547"], "mesh": ["C536911"], "omim": ["155240"], "orphanet": ["99361", "653"], "synonyms": ["Alternative titles", "FMTC", "MTC1"], "genereviews": ["NBK1257"]} |
Berdon syndrome
Other namesMegacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH syndrome, MMIHS
Berdon syndrome has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics
Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome),[1] ... | Berdon syndrome | c1608393 | 1,394 | wikipedia | https://en.wikipedia.org/wiki/Berdon_syndrome | 2021-01-18T19:10:57 | {"gard": ["3442"], "mesh": ["C536138"], "umls": ["C1608393"], "orphanet": ["2241"], "wikidata": ["Q4891136"]} |
Hippocampal sclerosis
Mesial Temporal Sclerosis
SpecialtyNeurology
Hippocampal sclerosis (HS) is a neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus, specifically in the CA-1 (Cornu Ammonis area 1) and subiculum of the hippocampus. It was first described in 1880 by... | Hippocampal sclerosis | c1504404 | 1,395 | wikipedia | https://en.wikipedia.org/wiki/Hippocampal_sclerosis | 2021-01-18T19:00:22 | {"wikidata": ["Q4421929"]} |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.
*[v]: View this template
*[t... | Congenital hereditary facial paralysis-variable hearing loss syndrome | c1858717 | 1,396 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306530 | 2021-01-23T17:05:20 | {"mesh": ["C536386"], "omim": ["604185", "614744"], "icd-10": ["Q87.0"], "synonyms": ["Congenital hereditary facial palsy with variable deafness", "Congenital hereditary facial palsy with variable hearing loss", "Congenital hereditary facial paralysis with variable deafness", "Congenital hereditary facial paralysis-var... |
C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the b... | C3 glomerulopathy | c3553720 | 1,397 | medlineplus | https://medlineplus.gov/genetics/condition/c3-glomerulopathy/ | 2021-01-27T08:25:38 | {"gard": ["8555", "6516"], "omim": ["614809", "609814"], "synonyms": []} |
## Description
Electrocardiographic (ECG) early repolarization, defined as an elevation of the QRS-ST junction (J-point) of at least 1.0 mm (0.1 mV) from baseline in the inferior or lateral lead, manifest as QRS slurring or notching, is a common ECG finding that is generally considered to be benign but may be assoc... | EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION | c3150852 | 1,398 | omim | https://www.omim.org/entry/613601 | 2019-09-22T15:58:10 | {"omim": ["613601"], "synonyms": ["Alternative titles", "EARLY REPOLARIZATION SYNDROME"]} |
Green nails may be (1) due to a Pseudomonas aeruginosa infection causing a green nail syndrome or (2) the result of copper in tap water.[1]:791
## Pseudomonas aeruginosa[edit]
Main article: Pseudomonas aeruginosa
Pseudomonas aeruginosa is a common bacterium that can cause disease in animals, including humans. It ... | Green nails | None | 1,399 | wikipedia | https://en.wikipedia.org/wiki/Green_nails | 2021-01-18T18:32:32 | {"wikidata": ["Q5603561"]} |
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