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 |
|---|---|---|---|---|---|---|---|
Acquired perforating dermatosis
Other namesAcquired perforating collagenosis
SpecialtyDermatology
Acquired perforating dermatosis is clinically and histopathologically similar to perforating folliculitis, also associated with chronic kidney failure, with or without hemodialysis or peritoneal dialysis, and/or... | Acquired perforating dermatosis | c1274760 | 30,600 | wikipedia | https://en.wikipedia.org/wiki/Acquired_perforating_dermatosis | 2021-01-18T19:09:17 | {"umls": ["C1274760"], "wikidata": ["Q1363662"]} |
Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of hist... | Reticulohistiocytoma | c0035290 | 30,601 | gard | https://rarediseases.info.nih.gov/diseases/12967/reticulohistiocytoma | 2021-01-18T17:57:57 | {"mesh": ["D015616"], "synonyms": ["Solitary reticulohistiocytosis", "Solitary histiocytoma"]} |
A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepa... | Combined immunodeficiency due to CD70 deficiency | None | 30,602 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=538958 | 2021-01-23T17:44:07 | {"omim": ["618261"], "icd-10": ["D81.1"], "synonyms": ["CID due to CD70 deficiency"]} |
Dislike or fear of Catholicism, hostility or prejudice towards Catholics
For observations made about the current or historic Catholic Church, see Criticism of the Catholic Church.
A famous 1876 editorial cartoon by Thomas Nast which portrays bishops as crocodiles who are attacking public schools, with the connivanc... | Anti-Catholicism | None | 30,603 | wikipedia | https://en.wikipedia.org/wiki/Anti-Catholicism | 2021-01-18T19:03:18 | {"wikidata": ["Q1063123"]} |
Medical condition leading to loss of voice
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 sour... | Aphonia | c0003564 | 30,604 | wikipedia | https://en.wikipedia.org/wiki/Aphonia | 2021-01-18T19:08:57 | {"mesh": ["D001044"], "umls": ["C0003564"], "icd-9": ["784.41"], "icd-10": ["R49.1"], "wikidata": ["Q514686"]} |
Smokeless tobacco keratosis
Other namesSnuff dippers' keratosis,[1] smokeless tobacco-associated keratosis,[2] snuff pouch,[3] snuff dipper's lesion,[3] tobacco pouch keratosis,[3] spit tobacco keratosis[3]
SpecialtyDentistry
Smokeless tobacco keratosis (STK)[4] is a condition which develops on the oral muco... | Smokeless tobacco keratosis | c0685919 | 30,605 | wikipedia | https://en.wikipedia.org/wiki/Smokeless_tobacco_keratosis | 2021-01-18T19:04:27 | {"umls": ["C0685919"], "wikidata": ["Q25312963"]} |
Lennox-Gastaut syndrome is a severe condition characterized by recurrent seizures (epilepsy) that begin early in life. Affected individuals have multiple types of seizures, a particular pattern of brain activity (called slow spike-and-wave) measured by a test called an electroencephalogram (EEG), and impaired men... | Lennox-Gastaut syndrome | c3807541 | 30,606 | medlineplus | https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome/ | 2021-01-27T08:24:59 | {"gard": ["9912"], "omim": ["606369"], "synonyms": []} |
For a phenotypic description and a discussion of genetic heterogeneity of infantile hypertrophic pyloric stenosis (IHPS), see 179010.
Mapping
Everett et al. (2008) performed a genomewide single-nucleotide polymorphism (SNP)-based density linkage scan of 81 IHPS pedigrees. Nonparametric and parametric linkage analys... | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4 | c2678037 | 30,607 | omim | https://www.omim.org/entry/300711 | 2019-09-22T16:19:44 | {"mesh": ["C567472"], "omim": ["300711"]} |
Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with d... | Microcephaly-complex motor and sensory axonal neuropathy syndrome | None | 30,608 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=423894 | 2021-01-23T17:30:58 | {"icd-10": ["G60.0"]} |
For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 (127700).
Mapping
Developmental dyslexia is defined as a specific and significant impairment in reading ability that cannot be explained by deficits in intelligence, learning opportunity, motivation,... | DYSLEXIA, SUSCEPTIBILITY TO, 6 | c1847757 | 30,609 | omim | https://www.omim.org/entry/606616 | 2019-09-22T16:10:18 | {"omim": ["606616"]} |
The number of adults and children living with HIV/AIDS in Benin in 2003 was estimated by the Joint United Nations Programme for HIV/AIDS (UNAIDS) to range between 38,000 and 120,000, with nearly equal numbers of males and females. A recent study conducted by the National AIDS Control Program estimated the number of p... | HIV/AIDS in Benin | None | 30,610 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Benin | 2021-01-18T18:41:15 | {"wikidata": ["Q5629820"]} |
Rhabdomyoma
Surgically excised cardiac rhabdomyoma (unfixed)
SpecialtyOncology
A rhabdomyoma is a benign tumor of striated muscle. Rhabdomyomas may be either "cardiac" or "extra cardiac" (occurring outside the heart). Extracardiac forms of rhabdomyoma are sub classified into three distinct types: adult t... | Rhabdomyoma | c0035411 | 30,611 | wikipedia | https://en.wikipedia.org/wiki/Rhabdomyoma | 2021-01-18T18:50:23 | {"mesh": ["D012207"], "umls": ["C0035411"], "icd-9": ["215"], "icd-10": ["D21"], "wikidata": ["Q2147401"]} |
This article may contain excessive or improper use of non-free material. Please review the use of non-free content according to policy and guidelines and correct any violations. The talk page may have details. (September 2020) (Learn how and when to remove this template message)
Ductopenia refers to a reduct... | Ductopenia | c4021591 | 30,612 | wikipedia | https://en.wikipedia.org/wiki/Ductopenia | 2021-01-18T18:50:39 | {"umls": ["C4021591", "C3830376"], "wikidata": ["Q5311612"]} |
A garlic bulb next to a clove crushed in a garlic press
Garlic allergy or allergic contact dermatitis to garlic is a common inflammatory skin condition caused by contact with garlic oil or dust. It mostly affects people who cut and handle fresh garlic, such as chefs,[1] and presents on the tips of the thumb, ind... | Garlic allergy | None | 30,613 | wikipedia | https://en.wikipedia.org/wiki/Garlic_allergy | 2021-01-18T18:40:58 | {"wikidata": ["Q3232749"]} |
Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral P... | Peeling skin syndrome | c0406357 | 30,614 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=817 | 2021-01-23T18:59:46 | {"gard": ["7347"], "umls": ["C0343064", "C0406357", "C1849193"], "icd-10": ["Q80.8"], "synonyms": ["Deciduous skin", "Familial continuous skin peeling syndrome", "Idiopathic deciduous skin", "Keratosis exfoliativa congenita", "PSS", "Peeling skin disease"]} |
Not to be confused with Joint lock.
In medicine, joint locking is a symptom of pathology in a joint. It is a complaint by a person when they are unable to fully flex or fully extend a joint. This term is also used to describe the mechanism of lower limb joints held in full extension without much muscular effort when... | Joint locking (medicine) | c0547000 | 30,615 | wikipedia | https://en.wikipedia.org/wiki/Joint_locking_(medicine) | 2021-01-18T18:51:03 | {"umls": ["C0547000"], "wikidata": ["Q6269528"]} |
Huskins (1930) described an English family with affected members of at least 3 generations. He specifically stated that there was 'no evidence of any other defective condition being associated with this dental anomaly.' There was 1 affected female in the family.
Inheritance \- X-linked Teeth \- Absent central... | CENTRAL INCISORS, ABSENCE OF | c1844886 | 30,616 | omim | https://www.omim.org/entry/302400 | 2019-09-22T16:18:41 | {"omim": ["302400"]} |
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
## Epidemiology
It has been reported in four unrelated patients.
## Clinical description
A mask-like facial appearance is the most characteristic feature with blepha... | 8q22.1 microdeletion syndrome | c1842464 | 30,617 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178303 | 2021-01-23T19:06:30 | {"gard": ["4722"], "mesh": ["C536110"], "omim": ["608156"], "umls": ["C1842464"], "icd-10": ["Q93.5"], "synonyms": ["Monosomy 8q22.1", "Nablus mask-like facial syndrome"]} |
Delayed blisters are a cutaneous condition observed weeks to months after the initial healing of second-degree thermal burns, donor sites of split-thickness skin grafts, and recipient sites of split-thickness skin grafts.[1]
## See also[edit]
* Coma blister
* List of cutaneous conditions
## References[edit]
... | Delayed blister | c2939080 | 30,618 | wikipedia | https://en.wikipedia.org/wiki/Delayed_blister | 2021-01-18T18:40:43 | {"umls": ["C2939080"], "wikidata": ["Q5253492"]} |
A number sign (#) is used with this entry because of evidence that nemaline myopathy-1 (NEM1) is caused by heterozygous, homozygous, or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3; 191030) on chromosome 1q21. Cap myopathy-1 (CAPM1), an overlapping disorder, is also caused by heterozygous ... | NEMALINE MYOPATHY 1 | c0546125 | 30,619 | omim | https://www.omim.org/entry/609284 | 2019-09-22T16:06:19 | {"doid": ["0110926"], "mesh": ["D017696"], "omim": ["609284"], "orphanet": ["171439", "171881", "171433"], "genereviews": ["NBK1288"]} |
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and... | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | None | 30,620 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=521411 | 2021-01-23T17:03:22 | {"synonyms": ["Autosomal recessive axonal CMT due to copper metabolism defect"]} |
A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-13 with or without polydactyly (SRTD13) is caused by homozygous mutation in the CEP120 gene (613446) on chromosome 5q23.
Biallelic mutations in the CEP120 gene have also been reported in patients with Joubert syndrome (JB... | SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY | c0265275 | 30,621 | omim | https://www.omim.org/entry/616300 | 2019-09-22T15:49:19 | {"doid": ["0110093"], "mesh": ["C537571"], "omim": ["616300"], "orphanet": ["474"]} |
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospa... | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome | c1867397 | 30,622 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2252 | 2021-01-23T18:00:07 | {"gard": ["258"], "mesh": ["C536262"], "omim": ["179250"], "umls": ["C1867397", "C2931274"], "icd-10": ["Q87.2"], "synonyms": ["Schmitt-Gillenwater-Kelly syndrome"]} |
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type II, the more severe type of the disorder, is further divided ... | Sialidosis, type II | c0268228 | 30,623 | gard | https://rarediseases.info.nih.gov/diseases/7183/sialidosis-type-ii | 2021-01-18T17:57:43 | {"mesh": ["C537366"], "omim": ["256550"], "orphanet": ["87876"], "synonyms": ["Mucolipidosis type 1", "Neuraminidase deficiency", "Lipomucopolysaccharidosis", "Sialidase deficiency", "Glycoprotein neuraminidase deficiency", "ML1", "NEUG deficiency", "Neuraminidase 1 deficiency", "NEU 1 deficiency"]} |
A number sign (#) is used with this entry because of evidence that cardiofaciocutaneous syndrome-4 (CFC4) is caused by heterozygous mutation in the MAPK2K2 gene (601263) on chromosome 19p13.
For a general phenotypic description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 (115... | CARDIOFACIOCUTANEOUS SYNDROME 4 | c1275081 | 30,624 | omim | https://www.omim.org/entry/615280 | 2019-09-22T15:52:42 | {"doid": ["0060233"], "mesh": ["C535579"], "omim": ["615280"], "orphanet": ["1340"], "genereviews": ["NBK1186"]} |
Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.
Pr... | Osteoglophonic dysplasia | c0432283 | 30,625 | medlineplus | https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia/ | 2021-01-27T08:25:33 | {"gard": ["4142"], "mesh": ["C536050"], "omim": ["166250"], "synonyms": []} |
Callus on the forehead of some Muslims
A pilgrim with prayer bump photographed outside Masjid al-Haram.
A zebibah (Arabic: زبيبة zabība, "raisin"), also known as a zabiba or zebiba, or prayer bump, is a mark on the forehead of some Muslims, due to the friction generated by repeated contact of the forehead with the... | Prayer bump | None | 30,626 | wikipedia | https://en.wikipedia.org/wiki/Prayer_bump | 2021-01-18T18:58:07 | {"wikidata": ["Q1131143"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to hypogonadotropic hypogonadism-15 with or without anosmia (HH15) can be conferred by variation in the HS6ST1 gene (604846) on chromosome 2q14, sometimes in association with mutations in other genes, e.g., FGFR1 (136350) and NELF (6081... | HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA | c0162809 | 30,627 | omim | https://www.omim.org/entry/614880 | 2019-09-22T15:53:50 | {"doid": ["0090075"], "mesh": ["D017436"], "omim": ["614880"], "orphanet": ["432", "478"], "synonyms": ["Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "Normosmic idiopathic hypogonadotropic hypogonadism", "nIHH"], "genereviews": ["NBK1334"]} |
## Summary
### Clinical characteristics.
Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, ... | Junctional Epidermolysis Bullosa | c0079301 | 30,628 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1125/ | 2021-01-18T21:16:54 | {"mesh": ["D016109"], "synonyms": []} |
This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.
## Epidemiology
So far, it has been described in two families.
## Etiology
All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein.
*[v]: View this tem... | Autosomal recessive spastic paraplegia type 39 | c2677586 | 30,629 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139480 | 2021-01-23T17:02:59 | {"gard": ["4924"], "mesh": ["C567433"], "omim": ["612020"], "umls": ["C2677586"], "icd-10": ["G11.4"], "synonyms": ["SPG39", "Spastic paraplegia due to NTE mutation", "Spastic paraplegia due to neuropathy target esterase mutation"]} |
Little League Elbow
Repetitive overhead throwing motions, like those in baseball, can lead to this medical condition.
Little League elbow is a condition that is caused by repetitive throwing motions, especially in children who play sports that involve an overhand throw. "Little Leaguer's elbow" was coined by B... | Little League elbow | c3839969 | 30,630 | wikipedia | https://en.wikipedia.org/wiki/Little_League_elbow | 2021-01-18T19:10:15 | {"icd-9": ["718.82"], "wikidata": ["Q6650677"]} |
A number sign (#) is used with this entry because neurodegeneration with brain iron accumulation-5 (NBIA5) is caused by de novo heterozygous or hemizygous mutation in the WDR45 (300526) gene on chromosome Xp11.
Description
NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneratio... | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | c3550973 | 30,631 | omim | https://www.omim.org/entry/300894 | 2019-09-22T16:19:17 | {"doid": ["0110739"], "omim": ["300894"], "orphanet": ["329284"], "synonyms": ["STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD", "Static encephalopathy of childhood with neurdegeneration in adulthood", "BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION", "NBIA5", "SENDA", "Alternative titles",... |
In medicine, Garrod's tetrad is a term named for British physician Archibald Garrod, who introduced the phrase "inborn errors of metabolism" in a lecture in 1908.[1]
The tetrad comprises four inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and pentosuria.[2] Trick to learn PACA. ( Pentosuria, albin... | Garrod's tetrad | None | 30,632 | wikipedia | https://en.wikipedia.org/wiki/Garrod%27s_tetrad | 2021-01-18T18:31:50 | {"wikidata": ["Q5524075"]} |
Steatohepatitis
Micrograph of steatohepatitis. Liver biopsy. Trichrome stain
SpecialtyGastroenterology
Steatohepatitis is a type of fatty liver disease, characterized by inflammation of the liver with concurrent fat accumulation in liver. Mere deposition of fat in the liver is termed steatosis, and toget... | Steatohepatitis | c2711227 | 30,633 | wikipedia | https://en.wikipedia.org/wiki/Steatohepatitis | 2021-01-18T19:02:41 | {"mesh": ["D005234"], "icd-9": ["571.8", "571.0"], "icd-10": ["K76.0", "K70.1"], "wikidata": ["Q2335423"]} |
Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
## Epidemiology
To date, only nine cases have been reported.
## Clinical description
Ocular findings... | Mietens syndrome | c0265249 | 30,634 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2557 | 2021-01-23T17:41:38 | {"gard": ["3524"], "mesh": ["C537444"], "omim": ["249600"], "umls": ["C0265249"], "icd-10": ["Q87.8"], "synonyms": ["Intellectual disability, Mietens-Weber type"]} |
Bifurcated rib
Other namesBifurcated rib, sternum bifidum
Bifid rib at the right side seen on chest radiograph. The fourth rib splits in two towards the sternal end.
SpecialtyMedical genetics
A bifid rib is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2... | Bifid rib | c0265695 | 30,635 | wikipedia | https://en.wikipedia.org/wiki/Bifid_rib | 2021-01-18T19:04:48 | {"icd-9": ["756.3"], "icd-10": ["Q76.7"], "wikidata": ["Q1440680"]} |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing... | Megalencephalic leukoencephalopathy with subcortical cysts | c1858854 | 30,636 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2478 | 2021-01-23T16:52:36 | {"gard": ["3445"], "mesh": ["C536141"], "omim": ["604004", "613925", "613926"], "umls": ["C1858854"], "icd-10": ["E75.2"], "synonyms": ["MLC", "Megalencephalic leukodystrophy", "Megalencephaly-cystic leukodystrophy syndrome", "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts", "Van der Knaap syndr... |
Blue nevus
Other namesBlue neuronevus
Micrograph of a blue nevus showing the characteristic pigmented melanocytes between bundles of collagen. H&E stain.
SpecialtyOncology, dermatology
Various differential diagnoses of pigmented skin lesions, by relative incidence and malignancy potential, including "Blue ... | Blue nevus | c0206736 | 30,637 | wikipedia | https://en.wikipedia.org/wiki/Blue_nevus | 2021-01-18T18:49:02 | {"mesh": ["D018329"], "umls": ["C0206736"], "icd-10": ["D22"], "wikidata": ["Q2006470"]} |
## Summary
### Clinical characteristics.
Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are typically precipitated by coffee, tea, or alcohol; they can also be triggered by excitement, stress, or fatigue, or can be spontaneous. Att... | Familial Paroxysmal Nonkinesigenic Dyskinesia | c4551506 | 30,638 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1221/ | 2021-01-18T21:26:13 | {"mesh": ["C537181"], "synonyms": ["Paroxysmal Dystonic Choreoathetosis", "Paroxysmal Nonkinesigenic Dyskinesia", "PNKD"]} |
"Dysmorphia" redirects here. For the butterfly genus, see Dismorphia.
Mental disorder
Body dysmorphic disorder
Other namesBody dysmorphia, dysmorphic syndrome, dysmorphophobia
A cartoon of a patient with body dysmorphia looking in a mirror, seeing a distorted image of himself
SpecialtyPsychiatry, clinical psy... | Body dysmorphic disorder | c0005887 | 30,639 | wikipedia | https://en.wikipedia.org/wiki/Body_dysmorphic_disorder | 2021-01-18T18:38:41 | {"mesh": ["D057215"], "icd-9": ["300.7"], "icd-10": ["F45.2"], "wikidata": ["Q844590"]} |
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapill... | EEM syndrome | c1857041 | 30,640 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1897 | 2021-01-23T18:57:57 | {"gard": ["2078"], "mesh": ["C536190"], "omim": ["225280"], "umls": ["C1857041"], "icd-10": ["Q87.8"], "synonyms": ["Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"]} |
Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.
## Epidemiology
Exact prevalence is unknown. Prevalence of endogenous CS is estimated at around 1/26,000, with CD representing ... | Cushing disease | c0010481 | 30,641 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96253 | 2021-01-23T17:07:38 | {"gard": ["12867"], "mesh": ["D047748", "D003480"], "omim": ["219090"], "umls": ["C0010481", "C0221406"], "icd-10": ["D35.2", "E24.0"], "synonyms": ["Corticotroph pituitary adenoma", "Pituitary corticotroph micro-adenoma", "Pituitary-dependent Cushing syndrome"]} |
A number sign (#) is used with this entry because CMT4B1 is caused by mutation in the gene encoding the myotubularin-related protein-2 (MTMR2; 603557).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).
Clinica... | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 | c1832399 | 30,642 | omim | https://www.omim.org/entry/601382 | 2019-09-22T16:14:54 | {"doid": ["0110191"], "mesh": ["C535420"], "omim": ["601382"], "orphanet": ["99955"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B1", "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4... |
A rare non-infectious posterior uveitis characterized by usually bilateral, chronic, progressive, recurrent inflammation of the choroid, retinal pigment epithelium, and choriocapillaris. In the classic or peripapillary geographic type of the disease, infiltrates originating in the peripapillary region progress in an ... | Serpiginous choroiditis | c0729842 | 30,643 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35686 | 2021-01-23T18:42:10 | {"gard": ["31"], "umls": ["C0729842"], "icd-10": ["H30.8"], "synonyms": ["Geographic helicoid peripapillary choroidopathy"]} |
A number sign (#) is used with this entry because the phenotype is caused by duplication of one or more genes within the chromosome 1q21.1 region (chr1: 145.0-146.4 Mb, NCBI36). The reciprocal deletion has been identified (612474).
Clinical Features
Among 8 patients with duplication of an approximately 1.35-Mb regi... | CHROMOSOME 1q21.1 DUPLICATION SYNDROME | c2675891 | 30,644 | omim | https://www.omim.org/entry/612475 | 2019-09-22T16:01:24 | {"doid": ["0060435"], "mesh": ["C567290"], "omim": ["612475"], "orphanet": ["250994"]} |
A number sign (#) is used with this entry because Weill-Marchesani syndrome-2 (WMS2) is caused by heterozygous mutation in the FBN1 gene (134797) on chromosome 15q21.
Weill-Marchesani syndrome-2 is allelic to geleophysic dysplasia-2 (614185) and acromicric dysplasia (102370), the skeletal and joint features of which... | WEILL-MARCHESANI SYNDROME 2 | c1869115 | 30,645 | omim | https://www.omim.org/entry/608328 | 2019-09-22T16:07:57 | {"doid": ["0050475"], "mesh": ["D056846"], "omim": ["608328"], "orphanet": ["2084", "3449"], "synonyms": ["Alternative titles", "WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT", "SPHEROPHAKIA-BRACHYMORPHIA SYNDROME", "MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL", "GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNES... |
Diabetic cheiroarthropathy
Other namesLimited Joint Mobility, or LJM
SpecialtyDermatology
Diabetic cheiroarthropathy, also known as Diabetic stiff hand syndrome or limited joint mobility syndrome, is a cutaneous condition characterized by waxy, thickened skin and limited joint mobility of the hands and finge... | Diabetic cheiroarthropathy | c0406685 | 30,646 | wikipedia | https://en.wikipedia.org/wiki/Diabetic_cheiroarthropathy | 2021-01-18T18:56:38 | {"wikidata": ["Q5270135"]} |
A number sign (#) is used with this entry because of evidence that this form of common variable immunodeficiency, referred to here as CVID6, is caused by homozygous mutation in the CD81 gene (186845) on chromosome 11p. One such patient has been reported.
For a general description and a discussion of genetic hete... | IMMUNODEFICIENCY, COMMON VARIABLE, 6 | c0009447 | 30,647 | omim | https://www.omim.org/entry/613496 | 2019-09-22T15:58:30 | {"doid": ["12177"], "mesh": ["D017074"], "omim": ["613496"], "orphanet": ["1572"], "synonyms": ["Alternative titles", "ANTIBODY DEFICIENCY DUE TO CD81 DEFECT"]} |
Illustration showing the position of the parietal lobe of the brain, the site of damage related to visual extinction.
Visual extinction is a neurological disorder which occurs following damage to the parietal lobe of the brain. It is similar to, but distinct from, hemispatial neglect. Visual extinction has the chara... | Visual extinction | None | 30,648 | wikipedia | https://en.wikipedia.org/wiki/Visual_extinction | 2021-01-18T18:55:04 | {"wikidata": ["Q7936596"]} |
Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part... | Congenital hypoplasia of thumb | None | 30,649 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=294988 | 2021-01-23T17:34:48 | {"icd-10": ["Q71.3"], "synonyms": ["Congenital absence/hypoplasia of thumb", "Thumb hypodactyly", "Thumb oligodactyly"]} |
A number sign (#) is used with this entry because autosomal dominant distal hereditary motor neuronopathy type VIIa (HMN7A) is caused by heterozygous mutation in the SLC5A7 gene (608761) on chromosome 2q12.
See also HMN7B (607641), caused by mutation in the DCTN1 gene (601143) on chromosome 2p13.
Description
Dista... | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA | c1834703 | 30,650 | omim | https://www.omim.org/entry/158580 | 2019-09-22T16:37:57 | {"doid": ["0111201"], "mesh": ["C563562"], "omim": ["158580"], "orphanet": ["139589"], "synonyms": ["HARPER-YOUNG MYOPATHY", "SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS", "Alternative titles", "Distal spinal muscular atrophy with vocal cord paralysis", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA", "... |
Opioid-induced hyperalgesia[1] (OIH) or opioid-induced abnormal pain sensitivity,[2] also called paradoxical hyperalgesia,[3] is a phenomenon associated with the long-term use of opioids such as morphine,[4] oxycodone,[5] and methadone.[6][7] OIH is characterized as generalized pain that is not necessarily confined t... | Opioid-induced hyperalgesia | None | 30,651 | wikipedia | https://en.wikipedia.org/wiki/Opioid-induced_hyperalgesia | 2021-01-18T18:51:59 | {"wikidata": ["Q17146561"]} |
Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to devel... | Chapare hemorrhagic fever | c4274434 | 30,652 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319244 | 2021-01-23T18:12:22 | {"icd-10": ["A96.8"]} |
Spectrum of mood disorders
Not to be confused with Bipolar spectrum.
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: "Affective spectrum" – news · newspapers · books ... | Affective spectrum | None | 30,653 | wikipedia | https://en.wikipedia.org/wiki/Affective_spectrum | 2021-01-18T18:35:58 | {"wikidata": ["Q9089591"]} |
Bowenoid papulosis
SpecialtyDermatology
Bowenoid papulosis is a cutaneous condition characterized by the presence of pigmented verrucous papules on the body of the penis.[1]:730[2]:408 They are associated with human papillomavirus, the causative agent of genital warts.[3] The lesions have a typical dysplas... | Bowenoid papulosis | c0334106 | 30,654 | wikipedia | https://en.wikipedia.org/wiki/Bowenoid_papulosis | 2021-01-18T18:39:18 | {"gard": ["5951"], "umls": ["C0334106"], "wikidata": ["Q895414"]} |
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults w... | Beckwith-Wiedemann syndrome | c0004903 | 30,655 | medlineplus | https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome/ | 2021-01-27T08:25:42 | {"gard": ["3343"], "mesh": ["D001506"], "omim": ["130650"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that ectodermal dysplasia-12 (ECTD12) is caused by heterozygous mutation in the KDF1 gene (616758) on chromosome 1p36. One such family has been reported.
Description
Some ectodermal dysplasias are here classified as congenital disorders characterized by ... | ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE | c0265331 | 30,656 | omim | https://www.omim.org/entry/617337 | 2019-09-22T15:46:05 | {"omim": ["617337"], "orphanet": ["1810"]} |
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: "Fibro-adipose vascular anomaly" – news · n... | Fibro-adipose vascular anomaly | None | 30,657 | wikipedia | https://en.wikipedia.org/wiki/Fibro-adipose_vascular_anomaly | 2021-01-18T18:30:50 | {"wikidata": ["Q25111303"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.