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 |
|---|---|---|---|---|---|---|---|
A number sign (#) is used with this entry because of evidence that Leri-Weill dyschondrosteosis (LWD) is caused by heterozygous defects in the pseudoautosomal genes SHOX (312865) or SHOXY (400020) or by deletion of the SHOX downstream regulatory domain.
Because the mutation occurs in the pseudoautosomal region of th... | LERI-WEILL DYSCHONDROSTEOSIS | c0265309 | 8,500 | omim | https://www.omim.org/entry/127300 | 2019-09-22T16:42:06 | {"doid": ["0060847"], "mesh": ["C537119"], "omim": ["127300"], "icd-9": ["755.54"], "icd-10": ["Q74.0"], "orphanet": ["240", "35688"], "synonyms": ["Alternative titles", "DYSCHONDROSTEOSIS"], "genereviews": ["NBK1215"]} |
Abnormal sensation that bugs are crawling on or under the skin
Not to be confused with Fornication.
Formication
SpecialtyPsychiatry, neurology
Formication is the sensation that resembles that of small insects crawling on (or under) the skin when there is nothing there. It is one specific form of a set of sen... | Formication | c0016579 | 8,501 | wikipedia | https://en.wikipedia.org/wiki/Formication | 2021-01-18T18:55:09 | {"mesh": ["D010292"], "umls": ["C0016579"], "wikidata": ["Q5470185"]} |
A number sign (#) is used with this entry because of evidence that fetal akinesia deformation sequence-1 (FADS1) is caused by homozygous mutation in the MUSK gene (601296) on chromosome 9q31.
Mutation in the MUSK gene can also cause a form of congenital myasthenic syndrome (CMS9; 616325).
Description
The fetal... | FETAL AKINESIA DEFORMATION SEQUENCE 1 | c1276035 | 8,502 | omim | https://www.omim.org/entry/208150 | 2019-09-22T16:30:44 | {"mesh": ["C536647"], "omim": ["208150"], "orphanet": ["994"], "synonyms": ["Alternative titles", "FETAL AKINESIA DEFORMATION SEQUENCE", "PENA-SHOKEIR SYNDROME, TYPE I", "FETAL AKINESIA SEQUENCE", "ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA"]} |
IgA nephropathy is a kidney disorder that occurs when IgA (immunoglobulin A), a protein that helps the body fight infections, settles in the kidneys. IgA nephropathy can occur at any age, even in childhood. After many years, deposits of IgA may cause the kidneys to leak blood and sometimes protein in the urine. In th... | IgA nephropathy | c0017661 | 8,503 | gard | https://rarediseases.info.nih.gov/diseases/863/iga-nephropathy | 2021-01-18T17:59:49 | {"mesh": ["D005922"], "omim": ["161950"], "umls": ["C0017661"], "orphanet": ["34145"], "synonyms": ["Nephritis, IGA type", "IGAN", "Glomerulonephritis, IGA", "Berger's disease", "Berger disease"]} |
Punctate inner choroiditis
SpecialtyOphthalmology
Punctate inner choroiditis (PIC) is an inflammatory choroiditis which occurs mainly in young women. Symptoms include blurred vision and scotomata. Yellow lesions are mainly present in the posterior pole and are between 100 and 300 micrometres in size. PIC is on... | Punctate inner choroiditis | c0730321 | 8,504 | wikipedia | https://en.wikipedia.org/wiki/Punctate_inner_choroiditis | 2021-01-18T19:00:08 | {"gard": ["7503"], "umls": ["C0730321"], "wikidata": ["Q7260022"]} |
For a discussion of the genetic heterogeneity in age at natural menopause, see MENOQ1 (300488).
Mapping
In a genomewide association study of 17,438 women, He et al. (2009) found significant association with age at natural menopause for 5 SNPs on chromosome 5q35.2: rs365132 (p = 8.4 x 10(-14)), rs7718874 (p = 1.3 x ... | MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 4 | c2752066 | 8,505 | omim | https://www.omim.org/entry/612886 | 2019-09-22T16:00:24 | {"omim": ["612886"]} |
Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
*[v]: View thi... | Familial omphalocele syndrome with facial dysmorphism | None | 8,506 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280403 | 2021-01-23T18:45:36 | {} |
Anopsia
Other namesAnopia
Scheme showing central connections of the optic nerves and optic tracts. (Lesions at different locations relate to different types of anopsias.)
SpecialtyNeurology
An anopsia is a defect in the visual field. If the defect is only partial, then the portion of the field with the def... | Anopsia | c3887875 | 8,507 | wikipedia | https://en.wikipedia.org/wiki/Anopsia | 2021-01-18T18:29:39 | {"umls": ["C3887875"], "icd-9": ["368.4"], "icd-10": ["H53.4"], "wikidata": ["Q4770152"]} |
A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalange... | Fetal hydantoin syndrome | c0265372 | 8,508 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1912 | 2021-01-23T18:31:53 | {"gard": ["6435"], "mesh": ["C537922"], "umls": ["C0265372"], "icd-10": ["Q86.1"], "synonyms": ["Fetal dihydantoin syndrome", "Phenytoin embryofetopathy"]} |
Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry a... | Primary intraosseous venous malformation | c1847197 | 8,509 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140436 | 2021-01-23T17:56:42 | {"mesh": ["C564648"], "omim": ["606893"], "umls": ["C1847197"], "icd-10": ["D18.0"], "synonyms": ["Intraosseous hemangioma", "Osseous venous malformation"]} |
A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by secretion of abnormal light and heavy chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition most frequently occurs in association ... | Light and heavy chain deposition disease | None | 8,510 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93557 | 2021-01-23T17:49:29 | {"icd-10": ["D89.8"], "synonyms": ["LHCDD"]} |
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. (November 2019)
Bone malrotation
Other namesBone malalignment
SpecialtyOrthopedics
ComplicationsOsteoarthritis
TypesMain occurrences are femoral a... | Bone malrotation | None | 8,511 | wikipedia | https://en.wikipedia.org/wiki/Bone_malrotation | 2021-01-18T18:59:25 | {"wikidata": ["Q85748175"]} |
Blood cancer characterised by overproduction of lymphoblasts
Acute lymphoblastic leukemia
Other namesAcute lymphocytic leukemia, acute lymphoid leukemia
Bone marrow aspirate smear from a person with precursor B-cell ALL. The large purple cells are lymphoblasts.
SpecialtyHematology, oncology
SymptomsFeeli... | Acute lymphoblastic leukemia | c0023449 | 8,512 | wikipedia | https://en.wikipedia.org/wiki/Acute_lymphoblastic_leukemia | 2021-01-18T18:30:17 | {"gard": ["522"], "umls": ["C0023449"], "orphanet": ["513"], "wikidata": ["Q180664"]} |
An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, ren... | Acrocephalopolydactyly | c1860157 | 8,513 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221054 | 2021-01-23T18:51:20 | {"gard": ["2096"], "mesh": ["C536203"], "omim": ["200995"], "umls": ["C1860157", "C3495588"], "icd-10": ["Q87.0"], "synonyms": ["Acrocephalopolydactylous dysplasia", "Elejalde syndrome"]} |
Oldest conjoined twins
Ronnie and Donnie Galyon
Born
Ronald Galyon
Donald Galyon
(1951-10-28)October 28, 1951
Dayton, Ohio
DiedJuly 4, 2020(2020-07-04) (aged 68)
Dayton, Ohio
OccupationSideshow attractions, reality TV personalities
Known forOldest living set of conjoined twins
Ronn... | Ronnie and Donnie Galyon | None | 8,514 | wikipedia | https://en.wikipedia.org/wiki/Ronnie_and_Donnie_Galyon | 2021-01-18T19:06:48 | {"wikidata": ["Q1987602"]} |
Small intestine adenocarcinoma is one type of small bowel cancer, usually occurring in the duodenum or jejunum, that begins in the gland cells. The small intestine is part of the body’s digestive system, which also includes the esophagus, stomach, and large intestine. The exact cause is still unknown, but it may be d... | Small Intestinal Adenocarcinoma | c0278803 | 8,515 | gard | https://rarediseases.info.nih.gov/diseases/13090/small-intestinal-adenocarcinoma | 2021-01-18T17:57:40 | {"orphanet": ["104075"], "synonyms": ["Adenocarcinoma of small instestine", "Adenocarcinoma of the small bowel", "Adenocarcinoma of the small instestine", "Adenocarcinoma of Small Bowel", "Small bowel adenocarcinoma"]} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is caused by homozygous or compound heterozygous mutation in the CACNA1B gene (601012) on chromosome 9q34.
Description
Neurodevelopmental disorder with seizur... | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS | None | 8,516 | omim | https://www.omim.org/entry/618497 | 2019-09-22T15:41:39 | {"omim": ["618497"]} |
Pleural empyema
Other namesPyothorax, purulent pleuritis, lung empyema
CT chest showing large right sided hydro-pneumothorax from pleural empyema. Arrows A: air, B: fluid
SpecialtyPulmonology, cardiothoracic surgery
SymptomsFever, chest pain with breathing in, cough, shortness of breath
CausesBacteria (ofte... | Pleural empyema | c0014013 | 8,517 | wikipedia | https://en.wikipedia.org/wiki/Pleural_empyema | 2021-01-18T18:33:40 | {"mesh": ["D016724"], "umls": ["C0014013"], "orphanet": ["449266"], "wikidata": ["Q200781"]} |
A number sign (#) is used with this entry because of evidence that microcephaly, short stature, and impaired glucose metabolism-2 (MSSGM2) is caused by homozygous mutation in the PPP1R15B gene (613257) on chromosome 1q32.
Another syndrome involving microcephaly, short stature, and impaired glucose metabolism (MS... | MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 | c4225195 | 8,518 | omim | https://www.omim.org/entry/616817 | 2019-09-22T15:47:49 | {"omim": ["616817"], "orphanet": ["391408"], "synonyms": []} |
Common and highly contagious viral infection of the eye
Acute phase with conjunctival inflammation
Adenoviral keratoconjunctivitis, also known as Keratoconjunctivitis epidemica is a common and highly contagious viral infection of the eye.
The clinical course of (AKC) should be divided into an acute phase with conj... | Adenoviral keratoconjunctivitis | c0014493 | 8,519 | wikipedia | https://en.wikipedia.org/wiki/Adenoviral_keratoconjunctivitis | 2021-01-18T19:05:11 | {"umls": ["C0014493"], "icd-10": ["B30.0"], "wikidata": ["Q769741"]} |
Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.
## Epidemiology
The prevalence is unknown.
## Clinical description
Affected infants present with digestive problems, fever and periodic irritability. Visual disturbances have also been re... | Blue diaper syndrome | c0268478 | 8,520 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94086 | 2021-01-23T18:54:47 | {"gard": ["5939"], "mesh": ["C536239"], "omim": ["211000"], "umls": ["C0268478"], "icd-10": ["E70.8"], "synonyms": ["Drummond syndrome", "Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"]} |
Allan-Herndon-Dudley syndrome is a disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have speech and a limited ability to communicate, they ... | Allan-Herndon-Dudley syndrome | c0795889 | 8,521 | gard | https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome | 2021-01-18T18:02:12 | {"mesh": ["C537047"], "omim": ["300523"], "umls": ["C0795889"], "orphanet": ["59"], "synonyms": ["AHDS", "Allan-Herndon syndrome", "Monocarboxylate transporter-8 deficiency", "Triiodothyronine resistence", "T3 resisitence", "Intellectual disability and muscular atrophy", "X-linked intellectual disability with hypotonia... |
A number sign (#) is used with this entry because of evidence that pretibial dystrophic epidermolysis bullosa (DEB) is caused by heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1; 120120) on chromosome 3p21.
Pretibial epidermolysis bullosa is allelic to autosomal dominant (DDEB; 13... | EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL | c0432321 | 8,522 | omim | https://www.omim.org/entry/131850 | 2019-09-22T16:41:32 | {"mesh": ["C535494"], "omim": ["131850"], "orphanet": ["79410"], "synonyms": ["Alternative titles", "DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL", "DEB, PRETIBIAL", "EPIDERMOLYSIS BULLOSA, PRETIBIAL"], "genereviews": ["NBK1304"]} |
## Description
Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bona... | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1 | c1876177 | 8,523 | omim | https://www.omim.org/entry/102300 | 2019-09-22T16:45:26 | {"omim": ["102300"], "synonyms": ["Alternative titles", "ACROMELALGIA, HEREDITARY", "EKBOM SYNDROME"]} |
Acute severe asthma
Other namesStatus asthmaticus, asthmatic status
SpecialtyRespirology
SymptomsAnxiety, panic, laboring to breath, tightened neck and chest muscles, difficulty performing normal daily activities[1]
Usual onsetSilent chest, worsening symptoms despite use of medication.[1]
Acute severe as... | Acute severe asthma | c0038218 | 8,524 | wikipedia | https://en.wikipedia.org/wiki/Acute_severe_asthma | 2021-01-18T18:54:28 | {"mesh": ["D013224"], "umls": ["C0038218"], "icd-10": ["J46"], "wikidata": ["Q826759"]} |
A number sign (#) is used with this entry because of evidence that Steel syndrome (STLS) is caused by homozygous or compound heterozygous mutation in the COL27A1 gene (608461) on chromosome 9q32.
Description
Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coali... | STEEL SYNDROME | c3554594 | 8,525 | omim | https://www.omim.org/entry/615155 | 2019-09-22T15:53:01 | {"omim": ["615155"], "orphanet": ["438117"], "synonyms": ["DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, AND SHORT STATURE", "Alternative titles", "Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome"]} |
A gemistocyte (/dʒɛˈmɪstəsaɪt/ jem-ISS-tə-syte; from Greek γέμιζω (gemizo) 'to fill up') is a swollen, reactive astrocyte.[1] These cells usually appear during acute injury; after that, they gradually shrink in size.
Astrocytes participating in gliosis are referred to as reactive astrocytes. They have a large cytopl... | Gemistocyte | c0334581 | 8,526 | wikipedia | https://en.wikipedia.org/wiki/Gemistocyte | 2021-01-18T19:05:01 | {"mesh": ["D001254"], "umls": ["C0334581"], "orphanet": ["251604"], "wikidata": ["Q5530682"]} |
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: "Adipose tissue neoplasm" – news · news... | Adipose tissue neoplasm | c0206631 | 8,527 | wikipedia | https://en.wikipedia.org/wiki/Adipose_tissue_neoplasm | 2021-01-18T18:56:30 | {"mesh": ["D018205"], "umls": ["C0206631"], "wikidata": ["Q4682941"]} |
A number sign (#) is used with this entry because Marinesco-Sjogren syndrome (MSS) is caused by homozygous or compound heterozygous mutation in the SIL1 gene (608005) on chromosome 5q31.
Description
Marinesco-Sjogren syndrome is an autosomal recessive disorder characterized primarily by congenital cataracts, ce... | MARINESCO-SJOGREN SYNDROME | c0024814 | 8,528 | omim | https://www.omim.org/entry/248800 | 2019-09-22T16:25:32 | {"doid": ["0080195"], "mesh": ["D013132"], "omim": ["248800"], "orphanet": ["559"], "genereviews": ["NBK1192"]} |
Anticonvulsant hypersensitivity syndrome
Anticonvulsant/sulfonamide hypersensitivity syndrome is a potentially serious hypersensitivity reaction that can be seen with medications with an aromatic amine chemical structure, such as aromatic anticonvulsants (e.g. diphenylhydantoin, phenobarbital, phenytoin, carbama... | Anticonvulsant hypersensitivity syndrome | c3810813 | 8,529 | wikipedia | https://en.wikipedia.org/wiki/Anticonvulsant_hypersensitivity_syndrome | 2021-01-18T18:34:42 | {"icd-9": ["E936"], "icd-10": ["Y46"], "wikidata": ["Q4774650"]} |
Hysteria
This article is about the alleged poisoning. For the Tito & Tarantula album, see Tarantism (album).
Lycosa tarantula carrying her offspring
Tarantism is a form of hysteric behaviour, popularly believed to result from the bite of the wolf spider Lycosa tarantula (distinct from the broad class of spider... | Tarantism | None | 8,530 | wikipedia | https://en.wikipedia.org/wiki/Tarantism | 2021-01-18T18:41:24 | {"wikidata": ["Q2754884"]} |
Agrammatism is a characteristic of non-fluent aphasia. Individuals with agrammatism present with speech that is characterized by containing mainly content words, with a lack of function words. For example, when asked to describe a picture of children playing in the park, the affected individual responds with, "tr... | Agrammatism | c0003550 | 8,531 | wikipedia | https://en.wikipedia.org/wiki/Agrammatism | 2021-01-18T18:47:17 | {"mesh": ["D001039"], "wikidata": ["Q2423084"]} |
A number sign (#) is used with this entry because of evidence that permanent neonatal diabetes mellitus can be caused by homozygous mutation in the glucokinase gene (GCK; 138079), by heterozygous mutation in the KCNJ11 (600937) gene, or by heterozygous or homozygous mutation in the ABCC8 (600509) and INS (176730) gen... | DIABETES MELLITUS, PERMANENT NEONATAL | c1853564 | 8,532 | omim | https://www.omim.org/entry/606176 | 2019-09-22T16:10:36 | {"doid": ["0060639"], "mesh": ["C565253"], "omim": ["606176"], "orphanet": ["79134", "99885"], "synonyms": ["Alternative titles", "DIABETES MELLITUS, PERMANENT, OF INFANCY"], "genereviews": ["NBK1447"]} |
Chilaiditi syndrome is a medical condition in which a portion of the colon is abnormally positioned between the liver and the diaphragm. Symptoms vary, but may include abdominal pain, nausea, vomiting, and small bowel obstruction. In many cases, there are no symptoms and the interposition is an incidental finding. Wh... | Chilaiditi syndrome | c0267494 | 8,533 | gard | https://rarediseases.info.nih.gov/diseases/10685/chilaiditi-syndrome | 2021-01-18T18:01:29 | {"mesh": ["D059269"], "umls": ["C0267494"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Parkinson disease-17 (PARK17) is caused by heterozygous mutation in the VPS35 gene (601501) on chromosome 16q11.
Description
Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic ... | PARKINSON DISEASE 17 | c3280133 | 8,534 | omim | https://www.omim.org/entry/614203 | 2019-09-22T15:56:11 | {"doid": ["0060897"], "omim": ["614203"], "orphanet": ["411602"], "synonyms": ["Autosomal dominant late-onset Parkinson disease", "LOPD"], "genereviews": ["NBK447258", "NBK1223"]} |
A number sign (#) is used with this entry because Papillon-Lefevre syndrome (PALS) is caused by homozygous or compound heterozygous mutation in the cathepsin C gene (CTSC, or DPPI; 602365) on chromosome 11q14.
Mutations in the CTSC gene also cause Haim-Munk syndrome (HMS; 245010) and aggressive periodontitis-1 (1706... | PAPILLON-LEFEVRE SYNDROME | c0030360 | 8,535 | omim | https://www.omim.org/entry/245000 | 2019-09-22T16:26:05 | {"doid": ["3389"], "mesh": ["D010214"], "omim": ["245000"], "orphanet": ["678"], "synonyms": ["Alternative titles", "PLS", "KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA"]} |
Pontocerebellar hypoplasia type 1 (PCH1) is a genetic disease that affects the development of the brain. Babies and children with this disease have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop pr... | Pontocerebellar hypoplasia type 1 | c1843504 | 8,536 | gard | https://rarediseases.info.nih.gov/diseases/10704/pontocerebellar-hypoplasia-type-1 | 2021-01-18T17:58:15 | {"mesh": ["C548069"], "omim": ["607596"], "umls": ["C1843504"], "orphanet": ["2254"], "synonyms": ["Pontocerebellar hypoplasia with infantile spinal muscular atrophy", "Pontocerebellar hypoplasia with anterior horn cell disease"]} |
Self and Matthews (1968) described a family in which multiple members in 5 generations showed hyperextensible skin and a defect in fibrinolytic activity as indicated clinically by excessive bruising on minor trauma and spontaneous hematomas. Joints were not excessively mobile. The fibrinolytic defect was demonstrated... | FIBRINOLYTIC DEFECT | c1851184 | 8,537 | omim | https://www.omim.org/entry/134900 | 2019-09-22T16:41:12 | {"mesh": ["C565017"], "omim": ["134900"]} |
Congenital stationary night blindness
Malfunction in transmission from the photoreceptors in the outer nuclear layer to bipolar cells in the inner nuclear layer underlies CSNB.
SpecialtyOphthalmology
Congenital stationary night blindness (CSNB) is a rare non-progressive retinal disorder. People with CSNB oft... | Congenital stationary night blindness | c0339535 | 8,538 | wikipedia | https://en.wikipedia.org/wiki/Congenital_stationary_night_blindness | 2021-01-18T19:03:44 | {"gard": ["3995"], "mesh": ["C536122"], "icd-9": ["368.61"], "icd-10": ["H53.6"], "wikidata": ["Q8041552"]} |
A number sign (#) is used with this entry because of evidence that cognitive impairment with or without cerebellar ataxia is caused by heterozygous mutation in the SCN8A gene (600702) on chromosome 12q13.
Clinical Features
Trudeau et al. (2006) reported a family of Swedish and Norwegian origin with highly varia... | COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA | c3280415 | 8,539 | omim | https://www.omim.org/entry/614306 | 2019-09-22T15:55:43 | {"omim": ["614306"], "genereviews": ["NBK379665"]} |
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical... | Chédiak-Higashi syndrome | c0007965 | 8,540 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=167 | 2021-01-23T18:07:10 | {"gard": ["6035"], "mesh": ["D002609"], "omim": ["214500"], "umls": ["C0007965"], "icd-10": ["E70.3"], "synonyms": ["Chédiak-Higashi disease", "Chédiak-Higashi-Steinbrink syndrome"]} |
Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic in... | Benign infantile focal epilepsy with midline spikes and waves during sleep | None | 8,541 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166308 | 2021-01-23T19:01:57 | {"synonyms": ["BIMSE"]} |
A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as u... | Combined immunodeficiency due to CD27 deficiency | c3554540 | 8,542 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238505 | 2021-01-23T18:40:01 | {"omim": ["615122"], "icd-10": ["D47.9"], "synonyms": ["Autosomal recessive lymphoproliferative disease due to CD27 deficiency", "CD27 deficiency"]} |
Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.
## Epidemiology
The prevalence of neonatal diabetes is esti... | Transient neonatal diabetes mellitus | c1832386 | 8,543 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99886 | 2021-01-23T17:32:19 | {"gard": ["1839"], "mesh": ["C563322"], "omim": ["601410", "610374", "610582"], "umls": ["C1832386"], "icd-10": ["P70.2"], "synonyms": ["TNDM"]} |
This article may require cleanup to meet Wikipedia's quality standards. No cleanup reason has been specified. Please help improve this article if you can. (December 2009) (Learn how and when to remove this template message)
Neuroendocrine carcinoma of the cervix is best defined separately:Neuroendocrine: Of, rel... | Neuroendocrine carcinoma of the cervix | None | 8,544 | wikipedia | https://en.wikipedia.org/wiki/Neuroendocrine_carcinoma_of_the_cervix | 2021-01-18T18:57:24 | {"gard": ["7189"], "wikidata": ["Q16254348"]} |
A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pr... | Giant cell tumor of bone | c0206638 | 8,545 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363976 | 2021-01-23T18:58:32 | {"mesh": ["D018212"], "umls": ["C0206638"], "icd-10": ["D48.0"], "synonyms": ["GCT of bone", "Osteoclastoma"]} |
Not to be confused with PDNOS or Persistent Depressive Disorder.
Pervasive developmental disorder not otherwise specified (PDD-NOS), (including atypical autism)
SpecialtyClinical psychology, psychiatry, pediatrics, occupational medicine
A pervasive developmental disorder not otherwise specified (Including aty... | Pervasive developmental disorder not otherwise specified | None | 8,546 | wikipedia | https://en.wikipedia.org/wiki/Pervasive_developmental_disorder_not_otherwise_specified | 2021-01-18T18:47:44 | {"icd-9": ["299.9"], "icd-10": ["F84.9"], "wikidata": ["Q3288122"]} |
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: "Phoenix abscess" – news · newspapers · books · scholar · JSTOR (May 2014) (Learn how and when to remove this templa... | Phoenix abscess | c1290649 | 8,547 | wikipedia | https://en.wikipedia.org/wiki/Phoenix_abscess | 2021-01-18T18:44:15 | {"umls": ["C1290649"], "wikidata": ["Q7187021"]} |
A number sign (#) is used with this entry because of evidence that X-linked recessive chondrodysplasia punctata (CDPX1) is caused by mutation in the arylsulfatase E gene (ARSE; 300180) on chromosome Xp22.
For a general phenotypic description and a discussion of genetic heterogeneity of CDP, see CDPX2 (302960).
... | CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | c1844853 | 8,548 | omim | https://www.omim.org/entry/302950 | 2019-09-22T16:18:42 | {"doid": ["0060292"], "mesh": ["C535941"], "omim": ["302950"], "orphanet": ["79345"], "synonyms": ["Alternative titles", "CPXR", "CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC"], "genereviews": ["NBK1544"]} |
Porokeratotic eccrine ostial and dermal duct nevus is a skin lesion that resembles a comedonal nevus, but it occurs on the palms and soles where pilosebaceous follicles are normally absent.[1] It is probably transmitted by paradominant transmission.[2]
## See also[edit]
* Prominent inferior labial artery
* List... | Porokeratotic eccrine ostial and dermal duct nevus | c0473579 | 8,549 | wikipedia | https://en.wikipedia.org/wiki/Porokeratotic_eccrine_ostial_and_dermal_duct_nevus | 2021-01-18T18:39:55 | {"umls": ["C0473579"], "wikidata": ["Q7230265"]} |
Fleck corneal dystrophy
Appearance of the cornea by slit-lamp biomicroscopy (left image) and by confocal microscopy (right image) (Courtesy Dr. Charles N. McGhee)
SpecialtyOphthalmology
Fleck corneal dystrophy, also known as Francois-Neetens speckled corneal dystrophy, is a rare form of corneal dystrophy... | Fleck corneal dystrophy | c1562113 | 8,550 | wikipedia | https://en.wikipedia.org/wiki/Fleck_corneal_dystrophy | 2021-01-18T18:28:08 | {"mesh": ["C563256"], "umls": ["C1562113"], "orphanet": ["98970"], "wikidata": ["Q4237691"]} |
Acute bronchitis
Other namesChest cold
Figure A shows the location of the lungs and bronchial tubes. Figure B is an enlarged view of a normal bronchial tube. Figure C is an enlarged view of a bronchial tube with bronchitis.
SpecialtyPulmonology
SymptomsCough with sputum, wheezing, shortness of breath, fev... | Acute bronchitis | c0149514 | 8,551 | wikipedia | https://en.wikipedia.org/wiki/Acute_bronchitis | 2021-01-18T18:56:50 | {"icd-9": ["466"], "icd-10": ["J21", "J20"], "wikidata": ["Q1900400"]} |
Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (s... | Erythromelalgia | c0014805 | 8,552 | gard | https://rarediseases.info.nih.gov/diseases/6377/erythromelalgia | 2021-01-18T18:00:39 | {"mesh": ["D004916"], "omim": ["133020"], "orphanet": ["90026"], "synonyms": ["Primary erythermalgia", "Mitchell disease (formerly)", "Primary erythromelalgia"]} |
A rare acquired skin disease characterized by a benign, etiologically variable lymphoproliferative process of the skin mimicking cutaneous lymphoma clinically and/or histologically, while not fulfilling criteria for the diagnosis of a specific disease. Depending on the predominant cell type in the infiltrate, T- and ... | Cutaneous pseudolymphoma | c0311220 | 8,553 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=451607 | 2021-01-23T16:55:20 | {"umls": ["C0311220"], "icd-10": ["L98.6"]} |
Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling... | Generalized peeling skin syndrome | c1849193 | 8,554 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263543 | 2021-01-23T18:54:44 | {"gard": ["12862"], "mesh": ["C564818"], "omim": ["270300", "616265"], "icd-10": ["Q80.8"], "synonyms": ["Generalized PSS", "Generalized deciduous skin"]} |
Adams-Oliver syndrome (AOS) is a rare disease characterized by an abnormality of skin development (areas of missing skin on the scalp called aplasia cutis congenita) and malformations of the hands and feet (terminal transverse limbs defects). The aplasia cutis may involve only the skin or include the skull under the ... | Adams-Oliver syndrome | c0265268 | 8,555 | gard | https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome | 2021-01-18T18:02:17 | {"omim": ["100300"], "umls": ["C0265268"], "orphanet": ["974"], "synonyms": ["Limb scalp and skull defects", "AOS", "Congenital scalp defects with distal limb anomalies", "Congenital scalp defects with distal limb reduction anomalies", "Limb, scalp and skull defects", "Adams Oliver syndrome"]} |
Mesoamerican nephropathy
Other namesCreatinina
SpecialtyNephrology
Mesoamerican nephropathy (MeN) is a currently unexplained epidemic of chronic kidney disease of unknown origin (CKDu),[1] prevalent in the Pacific Ocean coastal low lands of the Mesoamerican region, including southern Mexico, Guatemala, El Sa... | Mesoamerican nephropathy | None | 8,556 | wikipedia | https://en.wikipedia.org/wiki/Mesoamerican_nephropathy | 2021-01-18T19:07:06 | {"wikidata": ["Q17163917"]} |
Levin et al. (1973) described monozygotic female twins with a syndrome of hypoplasia or interruption of the transverse aortic arch, facial weakness involving particularly the depressor anguli oris, and bilateral retinal coloboma. Marden and Venters (1966) described macular coloboma and coarctation of the aorta in... | AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA | c1862681 | 8,557 | omim | https://www.omim.org/entry/107550 | 2019-09-22T16:44:57 | {"mesh": ["C566271"], "omim": ["107550"]} |
A number sign (#) is used with this entry because of evidence that postaxial polydactyly type A7 (PAPA7) is caused by homozygous mutation in the IQCE gene (617631) on chromosome 7p22. One such family has been reported.
Description
PAPA7 is characterized by postaxial polydactyly restricted to the feet, with well-dev... | POLYDACTYLY, POSTAXIAL, TYPE A7 | c4539976 | 8,558 | omim | https://www.omim.org/entry/617642 | 2019-09-22T15:45:17 | {"omim": ["617642"]} |
Nephrotoxicity is toxicity in the kidneys. It is a poisonous effect of some substances, both toxic chemicals and medications, on kidney function.[1] There are various forms,[2] and some drugs may affect kidney function in more than one way. Nephrotoxins are substances displaying nephrotoxicity.
Nephrotoxicity should... | Nephrotoxicity | c0595916 | 8,559 | wikipedia | https://en.wikipedia.org/wiki/Nephrotoxicity | 2021-01-18T19:02:37 | {"umls": ["C0595916"], "icd-10": ["N14"], "wikidata": ["Q1468324"]} |
Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the p... | Papular xanthoma | c4707373 | 8,560 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158008 | 2021-01-23T17:59:17 | {"icd-10": ["D76.3"]} |
## Mapping
Eriksson et al. (2006) studied whether either of 2 polymorphisms in the promoter of the SHBG gene on chromosome 17p13, a (TAAAA)n microsatellite and the rs1799941 SNP, are associated with serum levels of SHBG, sex steroids, or bone mineral density (BMD) in men. In both cohorts, (TAAAA)n and rs1799941 gen... | SEX HORMONE-BINDING GLOBULIN CIRCULATING LEVEL QUANTITATIVE TRAIT LOCUS | c3150748 | 8,561 | omim | https://www.omim.org/entry/613498 | 2019-09-22T15:58:32 | {"omim": ["613498"], "synonyms": ["Alternative titles", "TESTOSTERONE CIRCULATING LEVEL QUANTITATIVE TRAIT LOCUS, DUE TO SEX HORMONE-BINDING GLOBULIN"]} |
A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a varia... | Generalized eruptive histiocytosis | c0347404 | 8,562 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157991 | 2021-01-23T18:54:19 | {"icd-10": ["D76.3"], "synonyms": ["Generalized eruptive histiocytoma"]} |
A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. As such, the recommended trea... | Sacrococcygeal Teratoma | c0559459 | 8,563 | gard | https://rarediseases.info.nih.gov/diseases/319/sacrococcygeal-teratoma | 2021-01-18T17:57:50 | {"umls": ["C0559459"], "synonyms": []} |
Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. There are four types of COX deficiency differentiated by symptoms and age of onset: benign infantile mitochondrial type, French-Canadian type, infantile mit... | Cytochrome c oxidase deficiency | c0268237 | 8,564 | gard | https://rarediseases.info.nih.gov/diseases/48/cytochrome-c-oxidase-deficiency | 2021-01-18T18:00:59 | {"mesh": ["D030401"], "omim": ["220110"], "umls": ["C0268237"], "synonyms": ["Mitochondrial complex IV deficiency", "Complex 4 mitochondrial respiratory chain deficiency", "Deficiency of mitochondrial respiratory chain complex4", "COX deficiency", "Complex IV deficiency"]} |
Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.
## Epidemiology
Prevalence of homozygous forms is estimated at 1/1,000,000. Both sexes are equally affected.
## Clinical description
Congenital FV d... | Congenital factor V deficiency | c0015499 | 8,565 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=326 | 2021-01-23T17:59:12 | {"gard": ["2237"], "mesh": ["D005166"], "omim": ["227400"], "umls": ["C0015499"], "icd-10": ["D68.2"], "synonyms": ["Owren disease", "Parahemophilia", "Proaccelerin deficiency"]} |
## Description
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually ... | FRIEDREICH ATAXIA 2 | c0016719 | 8,566 | omim | https://www.omim.org/entry/601992 | 2019-09-22T16:14:06 | {"doid": ["12705", "0111219"], "mesh": ["D005621"], "omim": ["601992"], "orphanet": ["95"]} |
Bone development disease
For other uses, see Clubfoot (disambiguation).
Clubfoot
Other namesClubfeet, congenital talipes equinovarus (CTEV)[1]
Bilateral clubfeet
SpecialtyOrthopedics, podiatry
SymptomsFoot that is rotated inwards and downwards[2]
Usual onsetDuring early pregnancy[1]
CausesUnknown[1]
R... | Clubfoot | c0009081 | 8,567 | wikipedia | https://en.wikipedia.org/wiki/Clubfoot | 2021-01-18T18:50:44 | {"gard": ["5112"], "mesh": ["D003025"], "umls": ["C0009081"], "orphanet": ["199315", "293150", "293144"], "wikidata": ["Q1162164"]} |
Soemmering ring
SpecialtyOphthalmology
Soemmering ring is an annular swelling of the periphery of the lens capsule.[1] In 1928, Samuel Sömmerring observed posterior capsule opacification and then described Soemmering's ring as deposits of retained equatorial lens epithelial cells which continue to prolifer... | Soemmering ring | c0152260 | 8,568 | wikipedia | https://en.wikipedia.org/wiki/Soemmering_ring | 2021-01-18T18:38:54 | {"umls": ["C0152260"], "wikidata": ["Q50936730"]} |
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often inte... | Cherubism | c0008029 | 8,569 | medlineplus | https://medlineplus.gov/genetics/condition/cherubism/ | 2021-01-27T08:25:32 | {"gard": ["6036"], "mesh": ["D002636"], "omim": ["118400"], "synonyms": []} |
A number sign (#) is used with this entry because Li-Fraumeni syndrome is caused by heterozygous mutation in the p53 gene (TP53; 191170) on chromosome 17p13.
Description
Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. LFS is characterized by autosomal dominant inh... | LI-FRAUMENI SYNDROME | c0085390 | 8,570 | omim | https://www.omim.org/entry/151623 | 2019-09-22T16:38:51 | {"doid": ["3012"], "mesh": ["D016864"], "omim": ["151623"], "orphanet": ["524"], "synonyms": ["Alternative titles", "SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI", "SBLA SYNDROME"], "genereviews": ["NBK1294", "NBK1311"]} |
"Agyria" redirects here. It is not to be confused with Argyria.
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: "Lissencephaly" – news · newspapers · books · scholar ·... | Lissencephaly | c0266463 | 8,571 | wikipedia | https://en.wikipedia.org/wiki/Lissencephaly | 2021-01-18T19:06:25 | {"gard": ["12291"], "mesh": ["D054082"], "umls": ["C0266463", "C1879312", "C0266483"], "orphanet": ["102009", "48471"], "wikidata": ["Q1544416"]} |
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 o... | Osteopetrosis autosomal recessive 3 | c0345407 | 8,572 | gard | https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 | 2021-01-18T17:58:31 | {"mesh": ["C536058"], "omim": ["259730"], "umls": ["C0345407"], "orphanet": ["2785"], "synonyms": ["OPTB3", "Autosomal recessive osteopetrosis type 3", "Osteopetrosis with renal tubular acidosis", "Guibaud Vainsel syndrome", "Marble brain disease", "Carbonic anhydrase 2 deficiency"]} |
Macular edema
Other namesMacular oedema,[1] familial macular edema
A 61-year-old man with medical history of type 2 diabetes that presents a macular edema, evidenced by an OCT (the edema marked with arrows). The central image is a 3D reconstruction of the retinal thickness (the edema is coloured in red).
Specia... | Macular edema | c0271051 | 8,573 | wikipedia | https://en.wikipedia.org/wiki/Macular_edema | 2021-01-18T19:04:27 | {"mesh": ["D008269"], "umls": ["C0271051"], "icd-9": ["362.01", "362.53"], "icd-10": ["H35.8"], "wikidata": ["Q1813737"]} |
Eye disease in which high intraocular pressure damages the optic nerve
Glaucoma
Acute angle closure glaucoma of the person's right eye (shown at left). Note the mid-sized pupil, which was non-reactive to light, and redness of the white part of the eye.
SpecialtyOphthalmology, Optometry
SymptomsVision loss,... | Glaucoma | c0017601 | 8,574 | wikipedia | https://en.wikipedia.org/wiki/Glaucoma | 2021-01-18T18:58:33 | {"mesh": ["D005901"], "umls": ["C0017601"], "icd-9": ["365365"], "icd-10": ["H4040.-H4242."], "wikidata": ["Q159701"]} |
Cancer of the myeloid line of blood cells
Acute myeloid leukemia
Other namesAcute myelogenous leukemia, acute nonlymphocytic leukemia (ANLL), acute myeloblastic leukemia, acute granulocytic leukemia[1]
Bone marrow aspirate showing acute myeloid leukemia, arrows indicate Auer rods
SpecialtyHematology, oncol... | Acute myeloid leukemia | c1879321 | 8,575 | wikipedia | https://en.wikipedia.org/wiki/Acute_myeloid_leukemia | 2021-01-18T18:43:16 | {"gard": ["537", "12757"], "mesh": ["D015470"], "umls": ["C1879321"], "orphanet": ["519"], "wikidata": ["Q264118"]} |
A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.
## Epidemiology
It represents less than 10... | Aggressive systemic mastocytosis | c1112486 | 8,576 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98850 | 2021-01-23T18:05:11 | {"mesh": ["D034721"], "umls": ["C1112486"], "icd-10": ["C96.2"]} |
Idiopathic craniofacial erythema is a medical condition characterised by severe, uncontrollable, and frequently unprovoked, facial blushing.
Blushing can occur at any time and is frequently triggered by even mundane events, such as, talking to friends, paying for goods in a shop, asking for directions or even simply... | Idiopathic craniofacial erythema | None | 8,577 | wikipedia | https://en.wikipedia.org/wiki/Idiopathic_craniofacial_erythema | 2021-01-18T18:35:01 | {"wikidata": ["Q5988870"]} |
A number sign (#) is used with this entry because Dent disease-2 is caused by mutation in the OCRL gene (300535) on chromosome Xq26.
For a phenotypic description and a discussion of genetic heterogeneity of Dent disease, see 300009.
See also Lowe oculocerebrorenal syndrome (OCRL; 309000), an allelic disorder with a... | DENT DISEASE 2 | c1839874 | 8,578 | omim | https://www.omim.org/entry/300555 | 2019-09-22T16:20:07 | {"doid": ["0050699"], "mesh": ["C545036"], "omim": ["300555"], "orphanet": ["1652", "93623"], "genereviews": ["NBK99494"]} |
Diabetic myonecrosis is a complication of diabetes. It is caused by infarcted muscle tissue, usually in the thigh.[1]
## Contents
* 1 Epidemiology
* 2 Investigations and diagnosis
* 3 Treatment
* 4 Pathophysiology
* 5 Differential Diagnosis
* 6 References
* 7 Footnotes
## Epidemiology[edit]
The mean... | Diabetic myonecrosis | None | 8,579 | wikipedia | https://en.wikipedia.org/wiki/Diabetic_myonecrosis | 2021-01-18T18:28:19 | {"wikidata": ["Q5270136"]} |
Renal vein thrombosis
Other namesBlood clot in the renal vein[1]
The anterior surfaces of the kidneys, showing the areas of contact of neighboring viscera.
SpecialtyNephrology
Renal vein thrombosis (RVT) is the formation of a clot in the vein that drains blood from the kidneys, ultimately leading to a ... | Renal vein thrombosis | c0238457 | 8,580 | wikipedia | https://en.wikipedia.org/wiki/Renal_vein_thrombosis | 2021-01-18T18:36:05 | {"umls": ["C0238457"], "icd-9": ["453.3"], "icd-10": ["I82.3"], "wikidata": ["Q546176"]} |
Arsenical keratosis
SpecialtyDermatology
An arsenical keratosis is a growth of keratin on the skin caused by arsenic,[1]:725 which occurs naturally in the earth's crust and is widely distributed in the environment,[2] Arsenical compounds are used in industrial, agricultural, and medicinal substances. Arsen... | Arsenical keratosis | c0854707 | 8,581 | wikipedia | https://en.wikipedia.org/wiki/Arsenical_keratosis | 2021-01-18T18:42:37 | {"umls": ["C0854707"], "wikidata": ["Q4796468"]} |
Schinzel and Bernasconi (1990) reported the cases of a 13-year-old boy and his 28-year-old sister who had short stature, obesity, and a pattern of minor anomalies including a sloping, narrow forehead; small ears; narrow nose with prominent bridge and long septum; receding mandible; and short limbs with brachydactyly ... | SHORT STATURE-OBESITY SYNDROME | c1849235 | 8,582 | omim | https://www.omim.org/entry/269870 | 2019-09-22T16:22:28 | {"mesh": ["C564821"], "omim": ["269870"]} |
## Clinical Features
Braddock et al. (1993) reported 4 cases of sagittal craniosynostosis and the Dandy-Walker malformation (posterior fossa cyst, hypoplasia of the cerebellar vermis and often hydrocephalus) and suggested that they represented an autosomal dominant multiple malformation syndrome distinct from other... | HYDROCEPHALUS, AUTOSOMAL DOMINANT | c1838347 | 8,583 | omim | https://www.omim.org/entry/123155 | 2019-09-22T16:42:43 | {"doid": ["10908"], "mesh": ["C563973"], "omim": ["123155"], "orphanet": ["1538"], "synonyms": ["Braddock-Jones-Superneau syndrome"]} |
Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
... | Paris-Trousseau thrombocytopenia | c1956093 | 8,584 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=851 | 2021-01-23T17:55:01 | {"gard": ["4224"], "mesh": ["D054868", "C538617"], "omim": ["188025", "617443"], "umls": ["C1861178", "C1956093"], "icd-10": ["D69.4"]} |
Aagenaes syndrome
Other namesAagenæs syndrome, Cholestasis-lymphedema syndrome
Aagenaes syndrome is inherited in an autosomal recessive manner
Aagenaes syndrome is a syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and... | Aagenaes syndrome | c0268314 | 8,585 | wikipedia | https://en.wikipedia.org/wiki/Aagenaes_syndrome | 2021-01-18T18:28:29 | {"gard": ["370"], "mesh": ["C535330"], "umls": ["C0268314"], "orphanet": ["1414"], "wikidata": ["Q300801"]} |
Fournier et al. (1963) observed a family in which 4 of 5 children had clinical and/or autopsy evidence of pulmonary stenosis and congenital nephrotic syndrome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde ... | PULMONIC STENOSIS AND CONGENITAL NEPHROSIS | c0403552 | 8,586 | omim | https://www.omim.org/entry/265600 | 2019-09-22T16:23:00 | {"mesh": ["C562895"], "omim": ["265600"]} |
Shashi-Pena syndrome is a rare neurologic disease characterized by delayed psychologic and motor development, variable intellectual disability, and poor muscle tone (hypotonia). Described features include tall stature, a large head (macrocephaly), deep palmar creases, and distinct facial features. These features incl... | Shashi-Pena syndrome | c4310672 | 8,587 | gard | https://rarediseases.info.nih.gov/diseases/13495/shashi-pena-syndrome | 2021-01-18T17:57:44 | {"omim": ["617190"], "synonyms": ["ASXL2/Shashi-Pena Syndrome"]} |
Pain asymbolia, also called pain dissociation, is a condition in which pain is experienced without unpleasantness. This usually results from injury to the brain, lobotomy, cingulotomy or morphine analgesia. Preexisting lesions of the insula may abolish the aversive quality of painful stimuli while preserving the loca... | Pain asymbolia | c0563625 | 8,588 | wikipedia | https://en.wikipedia.org/wiki/Pain_asymbolia | 2021-01-18T18:39:17 | {"mesh": ["D000377"], "umls": ["C0563625"], "wikidata": ["Q2868696"]} |
CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid t... | CLIPPERS | c3854437 | 8,589 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284448 | 2021-01-23T17:48:01 | {"gard": ["10779"], "umls": ["C3854437"], "synonyms": ["Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids"]} |
Wobbly hedgehog syndrome (WHS) is a progressive, degenerative, neurological disease of the African pygmy hedgehog.[1][2] The cause is believed to be genetic.[3] Nearly 10 percent of pet African pygmy hedgehogs are affected,[2] due to their limited bloodlines.[4]
## Symptoms[edit]
The disease slowly degrades the hed... | Wobbly hedgehog syndrome | None | 8,590 | wikipedia | https://en.wikipedia.org/wiki/Wobbly_hedgehog_syndrome | 2021-01-18T18:45:32 | {"wikidata": ["Q8028961"]} |
## Description
Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease (232300), neurofibromatosis (162200), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome (130650).
Inheritance
Macroglossia was reported as an isolated hereditary trait, a... | MACROGLOSSIA | c0009677 | 8,591 | omim | https://www.omim.org/entry/153630 | 2019-09-22T16:38:38 | {"mesh": ["C531735"], "omim": ["153630"], "icd-10": ["K14.8"], "orphanet": ["2430"]} |
Enthesitis
Typical joint showing the entheses
SpecialtyRheumatology
This section needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (October 2019) (Learn how and when to remove this template ... | Enthesitis | c1282952 | 8,592 | wikipedia | https://en.wikipedia.org/wiki/Enthesitis | 2021-01-18T18:50:05 | {"umls": ["C1282952"], "wikidata": ["Q3055079"]} |
A number sign (#) is used with this entry because of evidence that autoimmune interstitial lung, joint, and kidney disease (AILJK) is caused by heterozygous mutation in the COPA gene (601924) on chromosome 1q23.
Description
Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemi... | AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE | c4225334 | 8,593 | omim | https://www.omim.org/entry/616414 | 2019-09-22T15:48:56 | {"omim": ["616414"], "orphanet": ["444092"], "synonyms": ["COPA syndrome"]} |
From their own experience and from the literature, Griffiths et al. (1983) collected 3 patients with duodenal carcinoid tumor in association with neurofibromatosis and pheochromocytoma and 4 patients with duodenal carcinoid with either von Recklinghausen disease or pheochromocytoma. The duodenal carcinoids had an unu... | NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME | c1834232 | 8,594 | omim | https://www.omim.org/entry/162240 | 2019-09-22T16:37:36 | {"mesh": ["C563522"], "omim": ["162240"], "synonyms": ["Alternative titles", "NPDC SYNDROME", "DUODENAL CARCINOID SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-13 (BBS13) is caused by compound heterozygous mutation in the MKS1 gene (609883) on chromosome 17q22.
Description
BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitc... | BARDET-BIEDL SYNDROME 13 | c0752166 | 8,595 | omim | https://www.omim.org/entry/615990 | 2019-09-22T15:50:19 | {"doid": ["0110135"], "mesh": ["D020788"], "omim": ["615990"], "orphanet": ["110"]} |
Cone-rod dystrophy 2 (CORD2) is an inherited eye disorder that affects the rod and cone cells in the retina. These cells process light and allow people to see the accurate shape and color of objects. Initial signs and symptoms of CORD2 usually occur in early childhood or late adolescence and include decreased sharpne... | Cone-rod dystrophy 2 | c0035334 | 8,596 | gard | https://rarediseases.info.nih.gov/diseases/6145/cone-rod-dystrophy-2 | 2021-01-18T18:01:12 | {"mesh": ["D012174"], "omim": ["120970"], "umls": ["C0035334"], "synonyms": ["CORD2", "Cone-rod retinal dystrophy 2", "CRD2", "Retinal cone-rod dystrophy 2", "RCRD2"]} |
Rachitic rosary
Rachitic rosary on chest radiograph
The prominent knobs of bone at the costochondral joints of rickets patients are known as a rachitic rosary or beading of the ribs. The knobs create the appearance of large beads under the skin of the rib cage, hence the name by analogy with the beads of a Cat... | Rachitic rosary | c0426824 | 8,597 | wikipedia | https://en.wikipedia.org/wiki/Rachitic_rosary | 2021-01-18T18:39:26 | {"umls": ["C0426824"], "wikidata": ["Q7279537"]} |
"Angiomyxoma" redirects here. For the tumor sometimes called "Angiomyoma", see Angioleiomyoma.
Angiomyxoma
Micrograph of an aggressive angiomyxoma. Core biopsy. H&E stain.
SpecialtyVascular system
Angiomyxoma is a myxoid tumor involving the blood vessels.
It can affect the vulva[1] and other parts of t... | Aggressive angiomyxoma | c1306242 | 8,598 | wikipedia | https://en.wikipedia.org/wiki/Aggressive_angiomyxoma | 2021-01-18T18:43:19 | {"umls": ["CL329980"], "icd-9": ["215.6"], "icd-10": ["D17.5"], "wikidata": ["Q3617384"]} |
A number sign (#) is used with this entry because Cornelia de Lange syndrome-4 (CDLS4) is caused by heterozygous mutation in the RAD21 gene (606462), which encodes a component of the cohesin complex, on chromosome 8q24.
For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange s... | CORNELIA DE LANGE SYNDROME 4 | c0270972 | 8,599 | omim | https://www.omim.org/entry/614701 | 2019-09-22T15:54:29 | {"doid": ["0080508"], "mesh": ["D003635"], "omim": ["614701"], "orphanet": ["199"], "genereviews": ["NBK1104"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.