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Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the exte... | Butyrylcholinesterase deficiency | c1283400 | 4,500 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=132 | 2021-01-23T18:27:20 | {"gard": ["7482"], "mesh": ["C537417"], "omim": ["617936"], "umls": ["C1283400"], "synonyms": ["Pseudocholinesterase deficiency"]} |
A number sign (#) is used with this entry because cri-du-chat syndrome is a well-described partial aneusomy resulting from deletion of the short arm of chromosome 5. There is a high probability that deletion of multiple genes is responsible for the phenotype as well as evidence that deletion of the telomerase reverse... | CRI-DU-CHAT SYNDROME | c0010314 | 4,501 | omim | https://www.omim.org/entry/123450 | 2019-09-22T16:42:39 | {"doid": ["12580"], "mesh": ["D003410"], "omim": ["123450"], "icd-9": ["758.31"], "icd-10": ["Q93.4"], "orphanet": ["281"], "synonyms": ["Alternative titles", "CAT CRY SYNDROME", "CHROMOSOME 5p DELETION SYNDROME"]} |
Mental disorder involving paranoid delusions and mistrust of others
Not to be confused with paranoid schizophrenia.
Paranoid personality disorder
SpecialtyPsychiatry, clinical psychology
Personality disorders
Cluster A (odd)
* Paranoid
* Schizoid
* Schizotypal
Cluster B (dramatic)
* Anti... | Paranoid personality disorder | c0030477 | 4,502 | wikipedia | https://en.wikipedia.org/wiki/Paranoid_personality_disorder | 2021-01-18T18:38:36 | {"mesh": ["D010260"], "umls": ["C0030477"], "icd-10": ["F60.0"], "wikidata": ["Q747735"]} |
For a phenotypic description and a discussion of genetic heterogeneity of attention deficit-hyperactivity disorder, see 143465.
Mapping
Ogdie et al. (2003) performed linkage analyses on 270 affected sib pairs with ADHD. Multipoint linkage analysis identified suggestive linkage for 17p11 (maximum lod score of 2.... | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2 | c1837152 | 4,503 | omim | https://www.omim.org/entry/608904 | 2019-09-22T16:07:05 | {"omim": ["608904"], "synonyms": ["Alternative titles", "ADHD2"]} |
## Description
The International Headache Society (1988) classifies headache associated with sexual activity (HSA) as an idiopathic headache under 'miscellaneous headaches unassociated with structural lesions.' Based on initial descriptions, 3 subtypes are differentiated: type 1 is a dull ache in the head and neck ... | HEADACHE ASSOCIATED WITH SEXUAL ACTIVITY | c0393754 | 4,504 | omim | https://www.omim.org/entry/607504 | 2019-09-22T16:09:06 | {"omim": ["607504"], "icd-9": ["339.82"], "icd-10": ["G44.82"], "synonyms": ["Alternative titles", "BENIGN SEXUAL HEADACHE"]} |
Beet vascular necrosis
Scientific classification
Domain:
Bacteria
Phylum:
Proteobacteria
Class:
Gammaproteobacteria
Order:
Enterobacteriales
Family:
Pectobacteriaceae
Genus:
Pectobacterium
Species:
P. carotovorum
Subspecies:
P. c. subsp. betavasculorum
Trinomial nam... | Beet vascular necrosis | None | 4,505 | wikipedia | https://en.wikipedia.org/wiki/Beet_vascular_necrosis | 2021-01-18T19:10:26 | {"wikidata": ["Q16975133"]} |
A number sign (#) is used with this entry because hypogonadotropic hypogonadism-11 with or without anosmia (HH11) can be caused by homozygous mutation in the TACR3 gene (162332) on chromosome 4q24.
Description
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or inc... | HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA | c0162809 | 4,506 | omim | https://www.omim.org/entry/614840 | 2019-09-22T15:54:05 | {"doid": ["0090071"], "mesh": ["D017436"], "omim": ["614840"], "orphanet": ["432", "478"], "synonyms": ["Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "Normosmic idiopathic hypogonadotropic hypogonadism", "nIHH"], "genereviews": ["NBK1334"]} |
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and worsen over time. Severity of symptoms and rate of progression can vary. Symptoms may include delayed motor development, learning difficul... | Hypomyelination with atrophy of basal ganglia and cerebellum | c2676244 | 4,507 | gard | https://rarediseases.info.nih.gov/diseases/10917/hypomyelination-with-atrophy-of-basal-ganglia-and-cerebellum | 2021-01-18T17:59:53 | {"mesh": ["C567314"], "omim": ["612438"], "orphanet": ["139441"], "synonyms": ["HABC", "HLD6", "Leukodystrophy, hypomyelinating, 6", "H-ABC", "Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum"]} |
Set of medical signs and symptoms experienced by U.S. and Canadian embassy staff, reported in Cuba and China.
Havana syndrome
The Hotel Nacional in Havana is one of the locations where the syndrome occurred.[1]
SymptomsHearing strange grating noises, headache, hearing loss, memory loss, and nausea
CausesLikely... | Havana syndrome | None | 4,508 | wikipedia | https://en.wikipedia.org/wiki/Havana_syndrome | 2021-01-18T18:45:21 | {"wikidata": ["Q42915945"]} |
A number sign (#) is used with this entry because of evidence that short QT syndrome-1 (SQT1) is caused by heterozygous mutation in the KCNH2 gene (152427) on chromosome 7q36.
Description
Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. P... | SHORT QT SYNDROME 1 | c1865020 | 4,509 | omim | https://www.omim.org/entry/609620 | 2019-09-22T16:05:47 | {"doid": ["0050793"], "mesh": ["C566506"], "omim": ["609620"], "orphanet": ["51083"], "synonyms": ["SQTS"]} |
A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the lit... | Upington disease | c1860596 | 4,510 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3408 | 2021-01-23T17:40:26 | {"gard": ["5421"], "mesh": ["C536472"], "omim": ["191520"], "umls": ["C1860596"], "icd-10": ["M91.8"], "synonyms": ["Hip dysplasia-enchondromata-ecchondroma syndrome"]} |
A number sign (#) is used with this entry because of evidence that methylmalonyl-CoA epimerase deficiency is caused by homozygous mutation in the MCEE gene (608419) on chromosome 2p13.
Clinical Features
Methylmalonic aciduria III, previously thought to be distinct from the other forms and to be due to deficiency of... | METHYLMALONYL-CoA EPIMERASE DEFICIENCY | c1855100 | 4,511 | omim | https://www.omim.org/entry/251120 | 2019-09-22T16:25:13 | {"mesh": ["C565386"], "omim": ["251120"], "orphanet": ["308425"], "synonyms": ["Alternative titles", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "METHYLMALONIC ACIDURIA III, FORMERLY"], "genereviews": ["NBK1231"]} |
Benzodiazepine dependence
Other namesBenzodiazepine addiction
SpecialtyAddiction Medicine
Benzodiazepine dependence is when one has developed one or more of either tolerance, withdrawal symptoms, drug seeking behaviors, such as continued use despite harmful effects, and maladaptive pattern of substance use, ... | Benzodiazepine dependence | c0338768 | 4,512 | wikipedia | https://en.wikipedia.org/wiki/Benzodiazepine_dependence | 2021-01-18T18:31:54 | {"icd-9": ["304.1"], "icd-10": ["F13"], "wikidata": ["Q380409"]} |
Presence of blood in ejaculation
Hematospermia
The ejaculatory output of a man with severe hematospermia.
SpecialtyUrology
Hematospermia (also known as haematospermia, hemospermia, or haemospermia) is the presence of blood in ejaculation. It is most often a benign symptom.[1] Among men age 40 or older, ... | Hematospermia | c0149707 | 4,513 | wikipedia | https://en.wikipedia.org/wiki/Hematospermia | 2021-01-18T19:00:05 | {"mesh": ["D051516"], "icd-9": ["608.82"], "icd-10": ["N50.1"], "wikidata": ["Q2077117"]} |
A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD2B) is caused by homozygous mutation in the PEX5 gene (600414) on chromosome 12p13.3. Mutations in the PEX5 gene also cause Zellweger syndrome (PBD2A; 214110).
Description
The overlapping phenotypes of neonatal adr... | PEROXISOME BIOGENESIS DISORDER 2B | c0282527 | 4,514 | omim | https://www.omim.org/entry/202370 | 2019-09-22T16:31:25 | {"mesh": ["D052919"], "omim": ["202370"], "orphanet": ["772", "44"], "genereviews": ["NBK1448"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional m... | Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome | None | 4,515 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508476 | 2021-01-23T17:35:36 | {"synonyms": ["Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome", "Hyaluronidase 2 deficiency"]} |
A number sign (#) is used with this entry because of evidence that Gitelman syndrome (GTLMNS) is caused by homozygous or compound heterozygous mutation in the (SLC12A3; 600968) on chromosome 16q13.
Description
Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalem... | GITELMAN SYNDROME | c0268450 | 4,516 | omim | https://www.omim.org/entry/263800 | 2019-09-22T16:23:17 | {"doid": ["0050450"], "mesh": ["D053579"], "omim": ["263800"], "orphanet": ["358"], "synonyms": ["Alternative titles", "HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA", "POTASSIUM AND MAGNESIUM DEPLETION"]} |
A number sign (#) is used with this entry because of evidence that mirror movements-2 (MRMV2) is caused by heterozygous mutation in the RAD51 gene (179617) on chromosome 15q15.
Description
Mirror movements are involuntary movements of a side of the body that mirror intentional movements on the opposite side. Mild m... | MIRROR MOVEMENTS 2 | c3281089 | 4,517 | omim | https://www.omim.org/entry/614508 | 2019-09-22T15:55:02 | {"omim": ["614508"], "orphanet": ["238722"], "synonyms": ["Familial congenital controlateral synkinesia", "Hereditary congenital controlateral synkinesia", "Hereditary congenital mirror movements", "Isolated congenital controlateral synkinesia", "Isolated congenital mirror movements"], "genereviews": ["NBK279760"]} |
Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.
... | Fuchs heterochromic iridocyclitis | c0016782 | 4,518 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263479 | 2021-01-23T18:26:21 | {"gard": ["6791"], "umls": ["C0016782"], "icd-10": ["H20.8"], "synonyms": ["FHI"]} |
Saito et al. (1989) described 2 sibs, a male and female born of a nonconsanguineous, relatively young couple, with a lethal acrorenal developmental complex. Both died of respiratory failure in the neonatal period. Radiologic features were symmetric mesomelic shortness of the limbs, fibular agenesis, oligosyndactyly, ... | FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES | c1856727 | 4,519 | omim | https://www.omim.org/entry/228940 | 2019-09-22T16:27:50 | {"mesh": ["C537226"], "omim": ["228940"], "orphanet": ["2256"]} |
Fear of submerged man-made objects
Submechanophobia
SpecialtyPsychology
Submechanophobia (from Latin sub 'under'; from English mechano; and from Ancient Greek φόβος (phóbos) 'fear') is a fear of submerged man-made objects, either partially or entirely underwater.[1][2]
## See also[edit]
Look up submechanoph... | Submechanophobia | None | 4,520 | wikipedia | https://en.wikipedia.org/wiki/Submechanophobia | 2021-01-18T19:01:25 | {"wikidata": ["Q97173234"]} |
## Clinical Features
Mendoza-Londono et al. (2005) described the clinical characterization, molecular analysis, and genetic mapping of a distinct genetic disorder, designated by the acronym CDAGS, which summarizes its most prominent features: 'C' stands for craniosynostosis and clavicular hypoplasia; 'D' stands... | CDAGS SYNDROME | c1864186 | 4,521 | omim | https://www.omim.org/entry/603116 | 2019-09-22T16:13:20 | {"mesh": ["C536789"], "omim": ["603116"], "orphanet": ["85199"], "synonyms": ["Alternative titles", "CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS", "CAP SYNDROME"]} |
A number sign (#) is used with this entry because perinatal lethal Gaucher disease is caused by homozygous or compound heterozygous mutation in the glucocerebrosidase gene (GBA; 606463) on chromosome 1q22.
Description
Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (2... | GAUCHER DISEASE, PERINATAL LETHAL | c1842704 | 4,522 | omim | https://www.omim.org/entry/608013 | 2019-09-22T16:08:29 | {"doid": ["0110960"], "mesh": ["C564306"], "omim": ["608013"], "orphanet": ["85212", "355"], "synonyms": ["Alternative titles", "GAUCHER DISEASE, COLLODION TYPE"], "genereviews": ["NBK1269"]} |
## Summary
### Clinical characteristics.
ANKRD26-related thrombocytopenia is characterized by lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding. Som... | ANKRD26-Related Thrombocytopenia | None | 4,523 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK507664/ | 2021-01-18T21:45:20 | {"synonyms": ["Thrombocytopenia 2 (THC2)"]} |
## Clinical Features
Shprintzen and Goldberg (1979) described a 'new' autosomal dominant malformation syndrome characterized by mildly dysmorphic facies, omphalocele, scoliosis, learning disabilities, and pharyngeal and laryngeal hypoplasia. A father and 3 daughters were affected; one of the daughters died in infan... | SHPRINTZEN OMPHALOCELE SYNDROME | c1866958 | 4,524 | omim | https://www.omim.org/entry/182210 | 2019-09-22T16:34:51 | {"mesh": ["C537329"], "omim": ["182210"], "orphanet": ["3164"], "synonyms": ["Alternative titles", "OMPHALOCELE WITH HYPOPLASIA OF PHARYNX AND LARYNX, LEARNING DISABILITY, DYSMORPHIC FACIES, AND SCOLIOSIS", "PHARYNX AND LARYNX HYPOPLASIA WITH OMPHALOCELE"]} |
## Cloning and Expression
Nagayama et al. (1989) isolated a TSHR cDNA from a human thyroid cDNA library. The deduced 764-amino acid protein has a molecular mass of 86.8 kD and contains a signal peptide, 7 transmembrane regions, 5 potential glycosylation sites, and a short intracytoplasmic region. The TSHR cDNA enco... | THYROID-STIMULATING HORMONE RECEPTOR | c1863961 | 4,525 | omim | https://www.omim.org/entry/603372 | 2019-09-22T16:13:06 | {"mesh": ["C566386"], "omim": ["603372"], "synonyms": ["Alternative titles", "THYROTROPIN RECEPTOR", "LGR3"]} |
Abortion in Pennsylvania is legal. 51% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.
The number of abortion clinics in Pennsylvania has declined over the years, with 114 in 1982, 81 in 1992 and twenty in 2014. There were 32,126 legal abortions in 2014, and 31... | Abortion in Pennsylvania | None | 4,526 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Pennsylvania | 2021-01-18T18:43:53 | {"wikidata": ["Q64876950"]} |
A number sign (#) is used with this entry because the disorder is associated with mutations in the PRNP gene (176640).
Clinical Features
Nitrini et al. (1997) studied a Brazilian family in which 9 members had clinically demonstrated prion disease characterized by autosomal dominant presenile dementia with a rap... | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES | c1847650 | 4,527 | omim | https://www.omim.org/entry/606688 | 2019-09-22T16:10:17 | {"mesh": ["C564678"], "omim": ["606688"]} |
Leiomyoma
Other namesleiomyomas, leiomyomata
Uterine lipoleiomyoma, a type of leiomyoma. H&E stain.
SpecialtyOncology
A leiomyoma, also known as fibroids, is a benign smooth muscle tumor that very rarely becomes cancer (0.1%). They can occur in any organ, but the most common forms occur in the uterus, smal... | Leiomyoma | c0023267 | 4,528 | wikipedia | https://en.wikipedia.org/wiki/Leiomyoma | 2021-01-18T18:56:37 | {"mesh": ["D007889"], "umls": ["C0023267"], "icd-9": ["218"], "icd-10": ["D21", "D25"], "wikidata": ["Q4667534"]} |
A number sign (#) is used with this entry because of evidence that preaxial polydactyly I (PPD1) is caused by homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. One such family has been reported.
Homozygous mutation in the GLI1 gene has also been reported to cause postaxial polydactyly type A8 (P... | POLYDACTYLY, PREAXIAL I | c1395852 | 4,529 | omim | https://www.omim.org/entry/174400 | 2019-09-22T16:36:03 | {"mesh": ["C536332"], "omim": ["174400"], "icd-10": ["Q69.1"], "orphanet": ["93339"], "synonyms": ["Alternative titles", "POLYDACTYLY, PREAXIAL", "THUMB POLYDACTYLY"]} |
## Clinical Features
In the son and daughter of consanguineous Arab parents, Lubani et al. (1991) observed cystic fibrosis and gastritis associated with Helicobacter pylori, folate deficiency, megaloblastic anemia, and subnormal mentality. Warren and Marshall (1983) first identified Helicobacter pylori (previously ... | CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND MENTAL RETARDATION | c2931402 | 4,530 | omim | https://www.omim.org/entry/219721 | 2019-09-22T16:29:01 | {"mesh": ["C537039"], "omim": ["219721"], "orphanet": ["2575"]} |
Irvine–Gass Syndrome
Other namesPseudophakic cystoid macular edema, Postcataract CME
SpecialtyOphthalmology
Irvine–Gass syndrome, pseudophakic cystoid macular edema or postcataract CME is one of the most common causes of visual loss after cataract surgery.[1][2] The syndrome is named in honor of S. Rodman Ir... | Irvine–Gass syndrome | c0271178 | 4,531 | wikipedia | https://en.wikipedia.org/wiki/Irvine%E2%80%93Gass_syndrome | 2021-01-18T18:33:30 | {"mesh": ["D008269"], "umls": ["C0271178"], "wikidata": ["Q19597605"]} |
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short midd... | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | c3549874 | 4,532 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2504 | 2021-01-23T17:36:13 | {"gard": ["3568"], "omim": ["156510"], "icd-10": ["Q77.8"]} |
Microdamage in bone can be caused by the various loads to which bones are subjected during normal daily activity. It occurs in two different types mainly depending on the load: diffuse damage and microcracks.
## References[edit]
* Burr, D.B.; Allen, M.R. (2013). Basic and Applied Bone Biology. Elsevier Science. p... | Microdamage in bone | None | 4,533 | wikipedia | https://en.wikipedia.org/wiki/Microdamage_in_bone | 2021-01-18T18:36:29 | {"wikidata": ["Q6839441"]} |
Essex-Lopresti fracture
SpecialtyOrthopaedics
SymptomsDislocation of the forearm
ComplicationsMal-Union
TreatmentOpen reduction and internal fixation with plates
PrognosisGood if treated early
DeathsRare
The Essex-Lopresti fracture is a fracture of the radial head with concomitant dislocation of ... | Essex-Lopresti fracture | c2711658 | 4,534 | wikipedia | https://en.wikipedia.org/wiki/Essex-Lopresti_fracture | 2021-01-18T18:57:23 | {"umls": ["C2711658"], "wikidata": ["Q1368814"]} |
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
## Epidemiology
It has been described in two brothers.
## Clinical description
Testicular biopsy revealed germinal aplasi... | Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome | c2931285 | 4,535 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2234 | 2021-01-23T18:22:31 | {"gard": ["4899"], "mesh": ["C536679"], "omim": ["307500"], "umls": ["C2931285"], "icd-10": ["Q87.8"], "synonyms": ["Sohval-Soffer syndrome"]} |
Bowen–Conradi syndrome
Other namesBCS[1] or BWCNS[2]
Bowen–Conradi syndrome is a disease in humans that can affect children.[2] The disease is due to an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly.[1][3] The preponderance of diagnoses has been ... | Bowen–Conradi syndrome | c1859405 | 4,536 | wikipedia | https://en.wikipedia.org/wiki/Bowen%E2%80%93Conradi_syndrome | 2021-01-18T18:30:59 | {"gard": ["5950"], "mesh": ["C537081"], "umls": ["C1859405"], "orphanet": ["1270"], "wikidata": ["Q18553398"]} |
A number sign (#) is used with this entry because the Finkel type of late-onset autosomal dominant spinal muscular atrophy (SMAFK) is caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB; 605704) on chromosome 20q13.
Description
Spinal muscular atrophy ... | SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE | c1866777 | 4,537 | omim | https://www.omim.org/entry/182980 | 2019-09-22T16:34:34 | {"doid": ["0111194"], "mesh": ["C566672"], "omim": ["182980"], "orphanet": ["209335"], "synonyms": ["Alternative titles", "FINKEL LATE-ADULT TYPE SMA", "SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT"]} |
Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female).... | Epilepsy-microcephaly-skeletal dysplasia syndrome | c2931579 | 4,538 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1948 | 2021-01-23T19:07:30 | {"gard": ["836"], "mesh": ["C537662"], "omim": ["601352"], "umls": ["C2931579"], "icd-10": ["Q87.8"], "synonyms": ["Battaglia-Neri syndrome"]} |
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the e... | Blepharophimosis, ptosis, and epicanthus inversus syndrome | c1862263 | 4,539 | medlineplus | https://medlineplus.gov/genetics/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/ | 2021-01-27T08:25:18 | {"gard": ["23"], "mesh": ["C566222"], "omim": ["110100"], "synonyms": []} |
A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
*[v]: View this template
*[t]: Discuss t... | Atelosteogenesis type II | c1850554 | 4,540 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=56304 | 2021-01-23T18:51:33 | {"gard": ["8329"], "mesh": ["C535395"], "omim": ["256050"], "umls": ["C0432203", "C1850554", "C1850555"], "icd-10": ["Q77.5"], "synonyms": ["AO2", "AOII", "Atelosteogenesis type 2", "De la Chapelle dysplasia", "Neonatal osseous dysplasia type 1"]} |
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MURCS association
Other namesMüllerian duct a... | MURCS association | c1832817 | 4,541 | wikipedia | https://en.wikipedia.org/wiki/MURCS_association | 2021-01-18T19:04:02 | {"gard": ["5513"], "mesh": ["C537371"], "umls": ["C1832817"], "icd-10": ["Q87.8"], "orphanet": ["2578"], "wikidata": ["Q9161215"]} |
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to ... | Hutchinson-Gilford progeria syndrome | c0033300 | 4,542 | medlineplus | https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/ | 2021-01-27T08:24:49 | {"gard": ["7467"], "mesh": ["D011371"], "omim": ["176670"], "synonyms": []} |
Sign of a few neurodegenerative disorders
Rosenthal fibers.
H&E staining showing these elongated eosinophilic structures in a case of pilocytic astrocytoma. Magnification 400x
A Rosenthal fiber is a thick, elongated, worm-like or "corkscrew" eosinophilic (pink) bundle that is found on staining of brain tissue in ... | Rosenthal fiber | None | 4,543 | wikipedia | https://en.wikipedia.org/wiki/Rosenthal_fiber | 2021-01-18T18:37:34 | {"umls": ["C0333731"], "wikidata": ["Q1541620"]} |
Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. Affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired... | Neuronal ceroid lipofuscinosis 3 | c0751383 | 4,544 | gard | https://rarediseases.info.nih.gov/diseases/5897/neuronal-ceroid-lipofuscinosis-3 | 2021-01-18T17:58:44 | {"mesh": ["D009472"], "omim": ["204200"], "orphanet": ["79264"], "synonyms": ["Juvenile neuronal ceroid lipofuscinosis", "Vogt Spielmeyer disease", "Spielmeyer Sjogren disease", "CLN3 disease, juvenile "]} |
A number sign (#) is used with this entry because of evidence that achondrogenesis type IA (ACG1A) is caused by homozygous or compound heterozygous mutation in the TRIP11 gene (604505) on chromosome 14q32.
Description
The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia i... | ACHONDROGENESIS, TYPE IA | c0001079 | 4,545 | omim | https://www.omim.org/entry/200600 | 2019-09-22T16:31:40 | {"doid": ["0080054"], "mesh": ["C579878"], "omim": ["200600"], "orphanet": ["932", "93299"], "synonyms": ["Alternative titles", "ACHONDROGENESIS, HOUSTON-HARRIS TYPE"]} |
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. (August 2014) (Learn how and when to remove this template message)
Congenital amputation is ... | Congenital amputation | c1857583 | 4,546 | wikipedia | https://en.wikipedia.org/wiki/Congenital_amputation | 2021-01-18T18:37:31 | {"gard": ["3254", "1471"], "mesh": ["C565682"], "umls": ["C1857583"], "wikidata": ["Q5160408"]} |
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: "Facial weakness" – news · newspapers ·... | Facial weakness | c0427055 | 4,547 | wikipedia | https://en.wikipedia.org/wiki/Facial_weakness | 2021-01-18T18:55:11 | {"mesh": ["D005158"], "umls": ["C0427055"], "wikidata": ["Q5428572"]} |
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (... | Intellectual disability-seizures-macrocephaly-obesity syndrome | None | 4,548 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369950 | 2021-01-23T18:47:34 | {"icd-10": ["Q87.8"], "synonyms": ["Der(8)t(8;12)"]} |
Disease caused by Nipah virus
Nipah virus infection
Structure of a Henipavirus
SpecialtyInfectious disease
SymptomsNone, fever, cough, headache, confusion[1]
ComplicationsInflammation of the brain, seizures[2]
Usual onset5 to 14 days after exposure[1]
CausesNipah virus (spread by direct contact)[3]
Dia... | Nipah virus infection | c1535917 | 4,549 | wikipedia | https://en.wikipedia.org/wiki/Nipah_virus_infection | 2021-01-18T19:10:46 | {"mesh": ["D045464"], "orphanet": ["99825"], "synonyms": ["Nipah encephalitis", "Nipah fever"], "wikidata": ["Q53926008"]} |
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and con... | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | c4014540 | 4,550 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424099 | 2021-01-23T17:26:28 | {"omim": ["615877"], "icd-10": ["Q87.5"], "synonyms": ["Microphthalmia-coloboma-rhizomelic skeletal dysplasia"]} |
A number sign (#) is used with this entry because generalized epilepsy with febrile seizures plus, type 7 (GEFSP7) and familial febrile seizures-3B (FEB3B) are both caused by heterozygous mutation in the SCN9A gene (603415) on chromosome 2q24.
See also GEFS+, type 2 and FEB3A (604403), which are both caused by mutat... | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 | c3502809 | 4,551 | omim | https://www.omim.org/entry/613863 | 2019-09-22T15:57:09 | {"doid": ["0060170", "0111295"], "mesh": ["C565808"], "omim": ["613863"], "orphanet": ["36387"], "synonyms": ["Alternative titles", "GEFS+, TYPE 7"]} |
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemogl... | X-linked sideroblastic anemia | c0221018 | 4,552 | gard | https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia | 2021-01-18T17:57:02 | {"omim": ["300751"], "umls": ["C0221018"], "orphanet": ["75563"], "synonyms": ["Sideroblastic anemia X-linked", "XLSA", "Anemia sex-linked hypochromic sideroblastic", "ANH1", "Congenital sideroblastic anemia", "Erythroid 5-aminolevulinate synthase deficiency", "Hereditary iron-loading anemia", "X chromosome-linked side... |
Visual disorder where eyes work independently
For the similar condition, where the eyes deviate inward (rather than outward), see esotropia.
Exotropia
Other namesDivergent squint, wall eyes
Exotropia of the right eye
SpecialtyOphthalmology
Exotropia is a form of strabismus where the eyes are deviated out... | Exotropia | c0015310 | 4,553 | wikipedia | https://en.wikipedia.org/wiki/Exotropia | 2021-01-18T18:32:13 | {"mesh": ["D005099"], "umls": ["C0015310"], "wikidata": ["Q2556242"]} |
This article is about the precancerous change in cells and tissues. For the clinical condition affecting the hip joint, see Hip dysplasia.
Not to be confused with Dyscrasia.
Normal squamous cells
Dysplastic cells
Dysplasia is any of various types of abnormal growth or development of cells (microscopic scale) ... | Dysplasia | c0334044 | 4,554 | wikipedia | https://en.wikipedia.org/wiki/Dysplasia | 2021-01-18T18:44:44 | {"mesh": ["D002471"], "umls": ["C0334044"], "wikidata": ["Q1128996"]} |
Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system, which regulates involuntary body processes such as blood pressure and breathing rate. PAF affects only the peripheral autonomic nervous system, which means it does not involve the brain and spinal cord (the central nervou... | Pure autonomic failure | c0393911 | 4,555 | gard | https://rarediseases.info.nih.gov/diseases/10428/pure-autonomic-failure | 2021-01-18T17:58:03 | {"mesh": ["D054970"], "umls": ["C0393911"], "orphanet": ["441"], "synonyms": ["Bradbury Eggleston syndrome", "Bradbury-Eggleston syndrome", "Orthostatic hypotension (a symptom)", "Idiopathic orthostatic hypotension (a symptom)"]} |
PAPA syndrome
Other namesPyogenic arthritis-pyoderma gangrenosum-acne syndrome[1]
PAPA syndrome is inherited in an autosomal dominant pattern.
PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne. It is a rare genetic disorder characterised by its effects on skin and joints.[2][3... | PAPA syndrome | c1858361 | 4,556 | wikipedia | https://en.wikipedia.org/wiki/PAPA_syndrome | 2021-01-18T19:04:17 | {"gard": ["9176"], "mesh": ["C536253"], "umls": ["C1858361"], "orphanet": ["69126"], "wikidata": ["Q7118181"]} |
Leukoencephalopathy (leukodystrophy-like diseases) is all of the brain white matter diseases, whether their molecular cause is known or not.[1] It can refer specifically to any of these diseases:
* Progressive multifocal leukoencephalopathy
* Toxic leukoencephalopathy
* Leukoencephalopathy with vanishing w... | Leukoencephalopathy | c0270612 | 4,557 | wikipedia | https://en.wikipedia.org/wiki/Leukoencephalopathy | 2021-01-18T18:48:16 | {"mesh": ["D056784"], "umls": ["C0270612"], "wikidata": ["Q3237081"]} |
SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis). As a result of hyperostosis, bones throughout the body are denser and wider than normal, particularly the bones of the skull. Affected individuals typically have an enlarged jaw with misa... | SOST-related sclerosing bone dysplasia | c4551483 | 4,558 | medlineplus | https://medlineplus.gov/genetics/condition/sost-related-sclerosing-bone-dysplasia/ | 2021-01-27T08:24:44 | {"gard": ["2833", "4771"], "omim": ["269500", "239100"], "synonyms": []} |
A number sign (#) is used with this entry because susceptibility to this form of renal disease, referred to here as focal segmental glomerulosclerosis-4 (FSGS4), is conferred by variation in the APOL1 gene (603743) on chromosome 22q12. These APOL1 variants confer protection against infection with T. b. rhodesiense, a... | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO | c2675525 | 4,559 | omim | https://www.omim.org/entry/612551 | 2019-09-22T16:01:15 | {"omim": ["612551"], "orphanet": ["84271"], "synonyms": ["Alternative titles", "END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED", "Sporadic idiopathic nephrosis"]} |
A number sign (#) is used with this entry because hypermanganesemia with dystonia-1 (HMNDYT1) is caused by homozygous mutation in the SLC30A10 gene (611146) on chromosome 1q41.
Description
Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, moto... | HYPERMANGANESEMIA WITH DYSTONIA 1 | c2750442 | 4,560 | omim | https://www.omim.org/entry/613280 | 2019-09-22T15:59:07 | {"doid": ["0080536"], "mesh": ["C548016"], "omim": ["613280"], "orphanet": ["309854"], "synonyms": ["Alternative titles", "HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS"], "genereviews": ["NBK100241"]} |
Fungal infection of the skin
"Ringworm" redirects here. For the band, see Ringworm (band).
"Tinea" redirects here. For the moth genus, see Tinea (moth).
Not to be confused with Ringed worm or Taenia (cestode).
Dermatophytosis
Other namesRingworm, tinea
Ringworm on a human leg
SpecialtyDermatology
Symptoms... | Dermatophytosis | c0011636 | 4,561 | wikipedia | https://en.wikipedia.org/wiki/Dermatophytosis | 2021-01-18T18:44:45 | {"umls": ["C0011636"], "wikidata": ["Q1909343"]} |
Soft, non-cancerous growth resulting from the tertiary stage of syphilis
Gumma (pathology)
Gumma of nose due to a long-standing tertiary syphilitic infection.
SpecialtyInfectious disease
Hepatic gumma
Moulage of a gumma in syphilis for training students. University of Tübingen.
A gumma (plural gummata... | Gumma (pathology) | None | 4,562 | wikipedia | https://en.wikipedia.org/wiki/Gumma_(pathology) | 2021-01-18T18:41:52 | {"icd-9": ["090.5", "102.6", "094.9", "095"], "icd-10": ["A52.3", "A52.7"], "wikidata": ["Q2466723"]} |
A number sign (#) is used with this entry because autosomal recessive Charcot-Marie-Tooth disease type 4F (CMT4F) is caused by homozygous or compound heterozygous mutation in the periaxin gene (PRX; 605725) on chromosome 19q13.
Description
Charcot-Marie-Tooth disease type 4F is an autosomal recessive demyelinat... | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F | c3540453 | 4,563 | omim | https://www.omim.org/entry/614895 | 2019-09-22T15:53:48 | {"doid": ["0110193"], "omim": ["614895"], "orphanet": ["99952"], "synonyms": ["CMT4F"]} |
Fiddler's neck
Other namesViolin hickey, viola love bite
SpecialtyOccupational health
Fiddler's neck is an occupational disease that affects violin and viola players.[1]
It is a cutaneous condition usually characterized by redness, thickening, and inflammation on the left side of the neck below the angle of... | Fiddler's neck | c0406180 | 4,564 | wikipedia | https://en.wikipedia.org/wiki/Fiddler%27s_neck | 2021-01-18T18:37:29 | {"wikidata": ["Q9352582"]} |
Synchysis scintillans
Human eye (vitreous humor in the middle)
SpecialtyOphthalmology
Synchysis scintillans is a degenerative condition of the eye resulting in liquefied vitreous humor and the accumulation of cholesterol crystals within the vitreous. It is also known as cholesterolosis bulbi. The vitreou... | Synchysis scintillans | c0271407 | 4,565 | wikipedia | https://en.wikipedia.org/wiki/Synchysis_scintillans | 2021-01-18T18:45:38 | {"umls": ["C0271407"], "icd-10": ["H43.8"], "wikidata": ["Q9081129"]} |
For a discussion of genetic heterogeneity of multiple sclerosis (MS), see MS1 (126200).
Mapping
In a multistage genomewide association study involving a total of 1,540 MS family trios, 2,322 case subjects, and 5,418 control subjects, the International Multiple Sclerosis Genetics Consortium (2007) identified 2 S... | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2 | c2675478 | 4,566 | omim | https://www.omim.org/entry/612594 | 2019-09-22T16:01:01 | {"omim": ["612594"]} |
Influenza caused by viruses adapted to birds
For the H5N1 subtype of Avian influenza, see Influenza A virus subtype H5N1.
Influenza (Flu)
Types
* Avian
* A/H5N1 subtype
* Canine
* Equine
* Swine
* A/H1N1 subtype
Vaccines
* 2009 pandemic
* Pandemrix
* Live attenuated
* Seasona... | Avian influenza | c0016627 | 4,567 | wikipedia | https://en.wikipedia.org/wiki/Avian_influenza | 2021-01-18T18:54:22 | {"mesh": ["D005585"], "umls": ["C0016627"], "icd-9": ["488.0488.0"], "icd-10": ["J09.009.0"], "orphanet": ["454836"], "wikidata": ["Q43987"]} |
A syndrome marked by sensory neuropathy induced from acute overdose, or chronic supplementation, of vitamin b6
Megavitamin-B6 syndrome
Other namesVitamin B6 Excess, Hypervitaminosis B6, Vitamin B6 Toxicity[1][2]
SpecialtyNeurology, toxicology
SymptomsPeripheral sensory neuropathy
Usual onsetGradual onset... | Megavitamin-B6 syndrome | c0238176 | 4,568 | wikipedia | https://en.wikipedia.org/wiki/Megavitamin-B6_syndrome | 2021-01-18T19:08:38 | {"icd-10": ["E67.2"], "wikidata": ["Q82684153"]} |
Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dys... | Spondyloperipheral dysplasia | c0796173 | 4,569 | medlineplus | https://medlineplus.gov/genetics/condition/spondyloperipheral-dysplasia/ | 2021-01-27T08:24:34 | {"gard": ["4994"], "mesh": ["C535799"], "omim": ["271700"], "synonyms": []} |
An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form.
## Clinical description... | Thrombotic thrombocytopenic purpura | c0034155 | 4,570 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54057 | 2021-01-23T17:35:04 | {"mesh": ["D011697"], "omim": ["274150"], "umls": ["C0034155"], "icd-10": ["M31.1"], "synonyms": ["Moschcowitz disease", "TTP"]} |
Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune d... | Immunodeficiency due to MASP-2 deficiency | c3151085 | 4,571 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=331187 | 2021-01-23T17:59:02 | {"mesh": ["C565360"], "omim": ["613791"], "umls": ["C3151085"], "icd-10": ["D84.1"]} |
A number sign (#) is used with this entry because severe congenital neutropenia-2 (SCN2) is caused by heterozygous mutation in the GFI1 gene (600871) on chromosome 1p22.
For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).
Clinical Features
Per... | NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT | c2751288 | 4,572 | omim | https://www.omim.org/entry/613107 | 2019-09-22T15:59:38 | {"mesh": ["C567748"], "omim": ["613107", "202700"], "orphanet": ["486"], "synonyms": []} |
Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.
## Epidemiology
Prevalence is not known.
## Clinical description
The syndrome typical... | Hinman syndrome | c1997362 | 4,573 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=84085 | 2021-01-23T18:30:43 | {"icd-10": ["N32.8"], "synonyms": ["HAS", "HS", "Hinman-Allen syndrome", "Non-neurogenic neurogenic bladder", "Occult neuropathic bladder"]} |
A number sign (#) is used with this entry because some cases of megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) have been found to have somatic mutations in the PIK3CA gene (171834) on chromosome 3q26.
Description
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is character... | MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME | c1865285 | 4,574 | omim | https://www.omim.org/entry/602501 | 2019-09-22T16:13:38 | {"mesh": ["C536142"], "omim": ["602501"], "orphanet": ["60040"], "synonyms": ["Alternative titles", "MACROCEPHALY-CAPILLARY MALFORMATION", "MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME", "MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA", "MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA"], "genereviews... |
Epidermolysis bullosa simplex (EBS), generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common featu... | Epidermolysis bullosa simplex, generalized | c0079299 | 4,575 | gard | https://rarediseases.info.nih.gov/diseases/2147/epidermolysis-bullosa-simplex-generalized | 2021-01-18T18:00:41 | {"mesh": ["D016110"], "omim": ["131900"], "umls": ["C0079299"], "synonyms": ["EBS, generalized", "Generalized EBS", "Epidermolysis bullosa simplex, Koebner type", "EBS-K", "Epidermolysis bullosa simplex, generalized non-Dowling-Meara"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to accelerated tumor formation is associated with variation in the MDM2 gene (164785) on chromosome 12q15.
Mapping
Susceptibility to accelerated tumor formation was associated by Bond et al. (2004) with a polymorphism in the MDM2 gene... | ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO | c3280690 | 4,576 | omim | https://www.omim.org/entry/614401 | 2019-09-22T15:55:24 | {"omim": ["614401"]} |
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional f... | 11p15.4 microduplication syndrome | None | 4,577 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300305 | 2021-01-23T19:10:33 | {"icd-10": ["Q92.3"], "synonyms": ["Dup(11)p(15.4)", "Trisomy 11p15.4"]} |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor deve... | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | c3809008 | 4,578 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363412 | 2021-01-23T18:30:20 | {"omim": ["615281"], "icd-10": ["E75.2"], "synonyms": ["HBSL"]} |
Congenital erosive and vesicular dermatosis
SpecialtyDermatology
Congenital erosive and vesicular dermatosis is a cutaneous condition characterized by generalized erosions, vesicles, crusting and ‘scalded skin-like’ erythematous areas affecting up to 75% of the body surface area.[1]
## See also[edit]
* Mel... | Congenital erosive and vesicular dermatosis | None | 4,579 | wikipedia | https://en.wikipedia.org/wiki/Congenital_erosive_and_vesicular_dermatosis | 2021-01-18T18:52:39 | {"umls": ["CL942357"], "wikidata": ["Q5160429"]} |
Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that ofte... | Chromosome 1q deletion | c0795799 | 4,580 | gard | https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion | 2021-01-18T18:01:23 | {"synonyms": ["Deletion 1q", "Monosomy 1q", "1q deletion", "1q monosomy", "Partial monosomy 1q"]} |
A number sign (#) is used with this entry because of evidence that Kaiser-type neurogenic scapuloperoneal syndrome (SCPNK) is caused by heterozygous mutation in the DES gene (125660) on chromosome 2q35.
Clinical Features
Peroneal atrophy is accompanied by bilateral foot drop and talipes equinovarus. Following atrop... | SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE | c1867005 | 4,581 | omim | https://www.omim.org/entry/181400 | 2019-09-22T16:34:59 | {"mesh": ["C566695"], "omim": ["181400"], "orphanet": ["85146"], "synonyms": ["Alternative titles", "KAESER SYNDROME", "STARK-KAESER SYNDROME", "SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER"]} |
Onychophosis is a localized or diffuse hyperkeratotic tissue that develops on the lateral or proximal nailfolds, within the space between the nailfolds and the nail plate, and is a common finding in the elderly.[1]:784 Onychophosis may involve the subungual area, as a direct result of repeated minor trauma, and most ... | Onychophosis | c0423812 | 4,582 | wikipedia | https://en.wikipedia.org/wiki/Onychophosis | 2021-01-18T19:05:47 | {"umls": ["CL548940"], "wikidata": ["Q7095156"]} |
A number sign (#) is used with this entry because of evidence that familial hypertrophic cardiomyopathy-16 (CMH16) is caused by heterozygous mutation in the MYOZ2 gene (605602) on chromosome 4q26.
For a phenotypic description and a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see ... | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 | c3151204 | 4,583 | omim | https://www.omim.org/entry/613838 | 2019-09-22T15:57:16 | {"omim": ["613838"], "genereviews": ["NBK1768"]} |
## Summary
### Clinical characteristics.
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease, both disorders of progressive bone overgrowth due to increased bone formation.
The major clinical features of sclerosteosis are progressive skeletal overgrowth, most pronounced in the skul... | SOST-Related Sclerosing Bone Dysplasias | None | 4,584 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1228/ | 2021-01-18T20:58:36 | {"synonyms": []} |
Lupus vasculitis is a complication of Systemic Lupus Erythematosus in which the autoimmune response causes the deposition of immune complexes, such as rheumatoid factor, within the blood vessels. It may manifest in as high as 56% of lupus patients throughout their life, in contrast to antiphospholipid syndrome which ... | Lupus vasculitis | c0343205 | 4,585 | wikipedia | https://en.wikipedia.org/wiki/Lupus_vasculitis | 2021-01-18T18:51:03 | {"umls": ["C0343205"], "wikidata": ["Q25339307"]} |
A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
... | Stevens-Johnson syndrome | c0038325 | 4,586 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36426 | 2021-01-23T18:44:42 | {"gard": ["7700"], "mesh": ["D013262"], "omim": ["608579"], "umls": ["C0038325"], "icd-10": ["L51.1"], "synonyms": ["Dermatostomatitis, Stevens Johnson type"]} |
Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood.
... | Fibrochondrogenesis | c3278138 | 4,587 | medlineplus | https://medlineplus.gov/genetics/condition/fibrochondrogenesis/ | 2021-01-27T08:24:56 | {"gard": ["2321"], "omim": ["228520", "614524"], "synonyms": []} |
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is know... | Mosaic variegated aneuploidy syndrome | c1850343 | 4,588 | medlineplus | https://medlineplus.gov/genetics/condition/mosaic-variegated-aneuploidy-syndrome/ | 2021-01-27T08:24:39 | {"gard": ["3007"], "mesh": ["C536987"], "omim": ["257300", "614114"], "synonyms": []} |
"PTSD" redirects here. For other uses, see PTSD (disambiguation).
"Post traumatic" redirects here. For the album, see Post Traumatic.
mental disorder that can develop after experiencing or witnessing a terrifying or life-threatening event
Post-traumatic stress disorder
Art therapy project created by a U.S. Marin... | Post-traumatic stress disorder | c0038436 | 4,589 | wikipedia | https://en.wikipedia.org/wiki/Post-traumatic_stress_disorder | 2021-01-18T18:47:02 | {"mesh": ["D013313"], "umls": ["C0038436"], "wikidata": ["Q202387"]} |
Granulomatous mastitis
SpecialtyGynecology
Granulomatous mastitis can be divided into idiopathic granulomatous mastitis (also known as granular lobular mastitis[1]) and granulomatous mastitis occurring as a rare secondary complication of a great variety of other conditions such as tuberculosis and other in... | Granulomatous mastitis | c0405469 | 4,590 | wikipedia | https://en.wikipedia.org/wiki/Granulomatous_mastitis | 2021-01-18T18:42:57 | {"mesh": ["D058890"], "umls": ["C0405469"], "orphanet": ["64722"], "wikidata": ["Q5596838"]} |
"Skipped beat" redirects here. For other uses, see Skipped beat (disambiguation).
Premature atrial contraction
Other namesSupraventricular extra systole (SVES)
Two PACs as seen on a rhythm strip
SpecialtyCardiology
Premature atrial contractions (PACs), also known as atrial premature complexes (APC) or... | Premature atrial contraction | c0033036 | 4,591 | wikipedia | https://en.wikipedia.org/wiki/Premature_atrial_contraction | 2021-01-18T18:39:58 | {"mesh": ["D018880"], "umls": ["C0033036"], "icd-9": ["427.61"], "icd-10": ["I49.1"], "wikidata": ["Q7240236"]} |
Fraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the ge... | Fraser syndrome | c0265233 | 4,592 | medlineplus | https://medlineplus.gov/genetics/condition/fraser-syndrome/ | 2021-01-27T08:24:46 | {"gard": ["6465"], "mesh": ["D058497"], "omim": ["219000"], "synonyms": []} |
Pharynx cancer that is located in the oropharynx
Oropharyngeal cancer
3D medical illustration showing the cancer formation in the tissues of the oropharynx
SpecialtyOncology, head and neck surgery
SymptomsSore or blister in back of mouth, difficulty with speech, swallowing or breathing, swelling in neck, loss ... | Oropharyngeal cancer | c0153388 | 4,593 | wikipedia | https://en.wikipedia.org/wiki/Oropharyngeal_cancer | 2021-01-18T18:43:19 | {"umls": ["C0153388", "C0153389", "C0153390", "C0153382"], "wikidata": ["Q2031424"]} |
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations i... | 11-beta-hydroxylase deficiency | c0268292 | 4,594 | gard | https://rarediseases.info.nih.gov/diseases/5658/11-beta-hydroxylase-deficiency | 2021-01-18T18:02:28 | {"mesh": ["C535978"], "omim": ["202010"], "umls": ["C0268292"], "orphanet": ["90795"], "synonyms": ["Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "Adrenal hyperplasia IV", "Adrenal hyperplasia 4", "Steroid 11-beta-hydroxylase deficiency", "Adrenal hyperplasia hypertensive form", "P450c11b1 def... |
Cracked tooth syndrome
Other namesCracked cusp syndrome,[1] split tooth syndrome,[1] incomplete fracture of posterior teeth[1]
Cross-section of a posterior tooth.
SpecialtyDentistry
Cracked tooth syndrome (CTS)[2] is where a tooth has incompletely cracked but no part of the tooth has yet broken off. Someti... | Cracked tooth syndrome | c0010261 | 4,595 | wikipedia | https://en.wikipedia.org/wiki/Cracked_tooth_syndrome | 2021-01-18T18:34:59 | {"mesh": ["D003387"], "umls": ["C0010261"], "icd-9": ["521.81"], "wikidata": ["Q497584"]} |
Fibroepithelial neoplasms
Fibroepithelial neoplasm (Phyllodes tumor).
SpecialtyOncology
A fibroepithelial neoplasm (or tumor) is a biphasic tumor. They consist of epithelial tissue, and stromal or mesenchymal tissue. They may be benign or malignant.[1]
Examples include:
* Brenner tumor of the ovary
... | Fibroepithelial neoplasm | c0206649 | 4,596 | wikipedia | https://en.wikipedia.org/wiki/Fibroepithelial_neoplasm | 2021-01-18T18:32:40 | {"mesh": ["D018225"], "umls": ["C0206649"], "wikidata": ["Q5446462"]} |
Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur... | Chromosome 7q duplication | c0795821 | 4,597 | gard | https://rarediseases.info.nih.gov/diseases/5357/chromosome-7q-duplication | 2021-01-18T18:01:20 | {"mesh": ["C537821"], "umls": ["C0795821"], "synonyms": ["Duplication 7q", "Trisomy 7q", "7q duplication", "7q trisomy", "Partial trisomy 7q"]} |
Primary lateral sclerosis (PLS) is a rare neuromuscular disease that affects the nerve cells that control the voluntary muscles. Problems in the legs (such as weakness, stiffness, spasticity, and balance problems) are often observed first, but hand clumsiness and changes in speech can be early symptoms, as well. The ... | Primary lateral sclerosis | c0154682 | 4,598 | gard | https://rarediseases.info.nih.gov/diseases/10684/primary-lateral-sclerosis | 2021-01-18T17:58:11 | {"mesh": ["D016472"], "omim": ["611637"], "umls": ["C0154682"], "orphanet": ["35689"], "synonyms": ["Adult-onset PLS", "Adult-onset primary lateral sclerosis"]} |
This article needs to be updated. Please update this article to reflect recent events or newly available information. (December 2020)
Ongoing COVID-19 viral pandemic in Sweden
COVID-19 pandemic in Sweden
Map of confirmed cases in Sweden
(per 100,000 residents)[1]
Map of confirmed cases in Sweden
(... | COVID-19 pandemic in Sweden | None | 4,599 | wikipedia | https://en.wikipedia.org/wiki/COVID-19_pandemic_in_Sweden | 2021-01-18T18:37:56 | {"wikidata": ["Q84081576"]} |
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