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Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.
## Epidemiology
Prevalence is unknown but 19 cases have been reported to date.
## Clinical description
Onset... | Epidermolysis bullosa simplex, autosomal recessive K14 | c3715082 | 4,900 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=89838 | 2021-01-23T19:02:40 | {"omim": ["601001"], "icd-10": ["Q81.0"], "synonyms": ["EBS, autosomal recessive K14", "EBS-AR KRT14", "KRT14-related autosomal recessive EBS", "KRT14-related autosomal recessive epidermolysis bullosa simplex"]} |
Sever's disease
Other namesApophysitis of the Calcaneus
X-ray of the foot of an 11-year-old child,showing sclerosis and fragmentation of the calcaneal apophysis. This is a sign of low sensitivity and specificity of Sever's disease, because those with Sever's disease may not have it, and it is commonly present in ... | Sever's disease | c0264097 | 4,901 | wikipedia | https://en.wikipedia.org/wiki/Sever%27s_disease | 2021-01-18T18:55:40 | {"icd-10": ["M92.6"], "wikidata": ["Q1415326"]} |
An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.
## Epidemiology
Spinocerebellar ataxia type 35 (SCA35) has been reported worldwide in les... | Spinocerebellar ataxia type 35 | c3888031 | 4,902 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276193 | 2021-01-23T17:28:45 | {"gard": ["12366"], "omim": ["613908"], "icd-10": ["G11.8"], "synonyms": ["SCA35"]} |
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.
## Epidemiology
It has been described in two males.
## Clinical description
Additional features included bilateral inguinal hernias, undescended testes, and... | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | c1863878 | 4,903 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2250 | 2021-01-23T18:40:42 | {"mesh": ["C537429"], "omim": ["603457"], "icd-10": ["Q87.0"], "synonyms": ["Bosma arhinia-microphthalmia syndrome", "Bosma-Henkin-Christiansen syndrome"]} |
A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysp... | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | None | 4,904 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436144 | 2021-01-23T17:33:50 | {"icd-10": ["Q87.1"]} |
Bare lymphocyte syndrome
SpecialtyHematology
Bare lymphocyte syndrome is a condition caused by mutations in certain genes of the major histocompatibility complex or involved with the processing and presentation of MHC molecules. It is a form of severe combined immunodeficiency.[1]
## Contents
* 1 Presentat... | Bare lymphocyte syndrome | c0242583 | 4,905 | wikipedia | https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome | 2021-01-18T18:44:29 | {"gard": ["8427"], "mesh": ["D016511"], "icd-10": ["D81.6"], "wikidata": ["Q3508735"]} |
Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephroti... | Non-amyloid fibrillary glomerulopathy | c4273674 | 4,906 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97566 | 2021-01-23T17:48:57 | {"gard": ["12740"], "icd-10": ["N03.6"], "synonyms": ["Congo red-negative amyloidosis-like glomerulopathy", "Non-amyloid fibrillary glomerulonephritis"]} |
Hemicrania continua
SpecialtyNeurology
Hemicrania continua (HC) is a persistent unilateral headache that responds to indomethacin. It is usually unremitting, but rare cases of remission have been documented.[1] Hemicrania continua is considered a primary headache disorder, meaning that it is not caused by anot... | Hemicrania continua | c2349425 | 4,907 | wikipedia | https://en.wikipedia.org/wiki/Hemicrania_continua | 2021-01-18T18:57:04 | {"gard": ["10795"], "icd-9": ["339.41"], "icd-10": ["G44.80"], "orphanet": ["443070"], "synonyms": [], "wikidata": ["Q973425"]} |
## Summary
### Clinical characteristics.
SLC39A14 deficiency is characterized by evidence between ages six months and three years of delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance). Early in the disease course, children show axial hypotonia followed by dystonia, spastic... | SLC39A14 Deficiency | None | 4,908 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK431123/ | 2021-01-18T20:58:41 | {"synonyms": ["SLC39A14-Related Early-Onset Dystonia-Parkinsonism"]} |
Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after ... | Achondrogenesis | c0265273 | 4,909 | medlineplus | https://medlineplus.gov/genetics/condition/achondrogenesis/ | 2021-01-27T08:24:47 | {"gard": ["2882"], "mesh": ["C536015"], "omim": ["200600", "600972", "200610"], "synonyms": []} |
A number sign (#) is used with this entry because autosomal dominant dyskeratosis congenita-3 (DKCA3) is caused by heterozygous mutation in the TINF2 gene (604319) on chromosome 14q12.
Description
Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal l... | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 | c1846142 | 4,910 | omim | https://www.omim.org/entry/613990 | 2019-09-22T15:56:47 | {"doid": ["0070018"], "mesh": ["C536068"], "omim": ["613990"], "orphanet": ["3322", "1775"], "genereviews": ["NBK22301"]} |
Buchheit et al. (1969) described 2 sisters with idiopathic intracranial hypertension with papilledema (pseudotumor cerebri). Traviesa et al. (1976) described 3 affected sisters. The patients are typically young females who are obese and may be pregnant or suffering from chronic dysfunctional uterine bleeding. Johnsto... | INTRACRANIAL HYPERTENSION, IDIOPATHIC | c0033845 | 4,911 | omim | https://www.omim.org/entry/243200 | 2019-09-22T16:26:17 | {"doid": ["11459"], "mesh": ["D011559"], "omim": ["243200"], "icd-9": ["348.2"], "icd-10": ["G93.2"], "orphanet": ["238624"], "synonyms": ["Alternative titles", "PSEUDOTUMOR CEREBRI"]} |
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (June 2009) (Learn how and when to remove this template message)
Conorenal syndrome
Other namesMainzer-Saldino syndrome or Saldino-Mainzer d... | Conorenal syndrome | c1849437 | 4,912 | wikipedia | https://en.wikipedia.org/wiki/Conorenal_syndrome | 2021-01-18T18:44:17 | {"gard": ["8600"], "mesh": ["C535463"], "umls": ["C1849437"], "orphanet": ["140969"], "wikidata": ["Q5162309"]} |
A rare idiopathic interstitial pneumonia characterized by temporally uniform alveolar and interstitial mononuclear cell inflammation (cellular type) and/or fibrosis of the alveolar walls (fibrotic type) with preserved alveolar architecture. Other types of interstitial lung disease must be excluded. Symptoms are n... | Non-specific interstitial pneumonia | c1290344 | 4,913 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91364 | 2021-01-23T17:40:25 | {"umls": ["C1290344"], "icd-10": ["J84.8"], "synonyms": ["NSIP", "Non-specific idiopathic interstitial pneumonia"]} |
Experience one may have when moving to a cultural environment which is different from one's own
For other uses, see Culture shock (disambiguation).
The encounter with the conquerors with steel and horses shocked the Aztecs, so they confused the Europeans with prophets from the east.
Traveler from Australia visitin... | Culture shock | c0221521 | 4,914 | wikipedia | https://en.wikipedia.org/wiki/Culture_shock | 2021-01-18T18:31:41 | {"wikidata": ["Q268586"]} |
Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy, a neurodegenerative disorder. Signs and symptoms typically begin during childhood or adolescence and worsen over time. Early symptoms include involuntary muscle jerking or twitching (stimulus-sensitive myoclonus) and tonic-c... | Unverricht-Lundborg disease | c0751785 | 4,915 | gard | https://rarediseases.info.nih.gov/diseases/3876/unverricht-lundborg-disease | 2021-01-18T17:57:14 | {"mesh": ["D020194"], "omim": ["254800"], "umls": ["C0751785"], "orphanet": ["308"], "synonyms": ["Myoclonus progressive epilepsy of Unverricht and Lundborg", "EPM1", "Epilepsy, progressive myoclonus 1", "Progressive myoclonus epilepsy baltic myoclonic epilepsy", "Myoclonic epilepsy of Unverricht and Lundborg", "Epilep... |
A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically ... | Acute bilirubin encephalopathy | c0155685 | 4,916 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=529799 | 2021-01-23T19:00:08 | {"synonyms": ["ABE", "Acute kernicterus"]} |
## Clinical Features
Figuera et al. (2002) described a 4-generation Mexican family with camptodactyly, distinctive facial features, spinal defects, thin hands and feet, and mild mental retardation. Facial features included flat facies, telecanthus, simplified ears, retrognathia, and symblepharon pterygium. Other cl... | CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III | c2677809 | 4,917 | omim | https://www.omim.org/entry/611929 | 2019-09-22T16:02:36 | {"mesh": ["C567455"], "omim": ["611929"], "orphanet": ["488434"], "synonyms": []} |
Anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow
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... | Aplastic anemia | c0002874 | 4,918 | wikipedia | https://en.wikipedia.org/wiki/Aplastic_anemia | 2021-01-18T19:05:59 | {"gard": ["5836"], "mesh": ["D000741"], "umls": ["C0178416", "C0002874"], "orphanet": ["182040"], "wikidata": ["Q846316"]} |
In psychology and psychiatry, clanging refers to a mode of speech characterized by association of words based upon sound rather than concepts. For example, this may include compulsive rhyming or alliteration without apparent logical connection between words. This is associated with the irregular thinking apparent... | Clanging | c0233658 | 4,919 | wikipedia | https://en.wikipedia.org/wiki/Clanging | 2021-01-18T18:29:44 | {"umls": ["C0233658"], "wikidata": ["Q5125787"]} |
## Clinical Features
Neuhauser et al. (1983) described 2 unrelated families in which a total of 5 members had recurrent encephalopathy affecting cerebellar and extrapyramidal structures. Affected individuals had onset in infancy or early childhood of acute encephalopathic episodes following presumably viral infecti... | ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD | c1851708 | 4,920 | omim | https://www.omim.org/entry/130950 | 2019-09-22T16:41:41 | {"mesh": ["C536407"], "omim": ["130950"], "orphanet": ["2672"]} |
Not to be confused with Hoarding (animal behavior).
Animal hoarding of rabbits
Animal hoarding is keeping a higher-than-usual number of animals as domestic pets without ability to properly house or care for them, while at the same time denying this inability. Compulsive hoarding can be characterized as a symptom of... | Animal hoarding | None | 4,921 | wikipedia | https://en.wikipedia.org/wiki/Animal_hoarding | 2021-01-18T19:08:02 | {"wikidata": ["Q489499"]} |
Placentitis
Gross pathology of severe intervillositis, with dark red and soggy tissue.
SpecialtyOB/GYN
Histopathology of acute subchorionic intervillositis, with neutrophils in Langhan’s layer of fibrinoid (by the fetal surface, at the base of a chorionic villus, seen at top right).
Placentitis is an in... | Placentitis | c0032059 | 4,922 | wikipedia | https://en.wikipedia.org/wiki/Placentitis | 2021-01-18T19:05:41 | {"umls": ["C0032059"], "wikidata": ["Q2099131"]} |
Bacterial infection of the prostate gland
Chronic Bacterial Prostatitis
SpecialtyUrology
Chronic bacterial prostatitis is a bacterial infection of the prostate gland. It should be distinguished from other forms of prostatitis such as acute bacterial prostatitis and chronic pelvic pain syndrome (CPPS).[1]
... | Chronic bacterial prostatitis | c1720797 | 4,923 | wikipedia | https://en.wikipedia.org/wiki/Chronic_bacterial_prostatitis | 2021-01-18T18:53:48 | {"mesh": ["D011472"], "icd-9": ["601.1"], "icd-10": ["N41.1"], "wikidata": ["Q5248740"]} |
Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement h... | Warfarin sensitivity | c0750384 | 4,924 | medlineplus | https://medlineplus.gov/genetics/condition/warfarin-sensitivity/ | 2021-01-27T08:24:40 | {"gard": ["12639"], "mesh": ["C563039"], "omim": ["122700"], "synonyms": []} |
## Clinical Features
Sconyers et al. (1983) described male and female offspring of nonconsanguineous parents who died in the neonatal period with a severe skeletal dysplasia that radiologically and histologically resembled Kniest syndrome but differed in clinical course and inheritance. Kniest syndrome (156550) is ... | KNIEST-LIKE DYSPLASIA, LETHAL | c1855605 | 4,925 | omim | https://www.omim.org/entry/245190 | 2019-09-22T16:26:04 | {"mesh": ["C537208"], "omim": ["245190"], "orphanet": ["2347"]} |
Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term "Goodpasture syndrome" for the findings of glomerulonephritis and pulmonary hemorrhage and ... | Goodpasture syndrome | c0403529 | 4,926 | gard | https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome | 2021-01-18T18:00:14 | {"mesh": ["D019867"], "omim": ["233450"], "orphanet": ["375"], "synonyms": ["Rapidly progressive glomerulonephritis with pulmonary hemorrhage", "Anti-glomerular basement membrane antibody disease", "Glomerulonephritis - pulmonary hemorrhage", "Pulmonary renal syndrome"]} |
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Lattice degeneration" – news · newspapers · books · scholar · JSTOR (July 2020)
Lattice degeneration
T... | Lattice degeneration | c0154856 | 4,927 | wikipedia | https://en.wikipedia.org/wiki/Lattice_degeneration | 2021-01-18T19:00:11 | {"umls": ["C0154856"], "wikidata": ["Q17139523"]} |
11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]:... | 11q22.2q22.3 microdeletion syndrome | None | 4,928 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444002 | 2021-01-23T16:52:32 | {"icd-10": ["Q93.5"], "synonyms": ["Del(11)(q22.2q22.3)", "Monosomy 11q22.2q22.3"]} |
For the joint inflammation condition, see Synovitis.
Inflammation of the mucous membrane that lines the sinuses resulting in symptoms
Sinusitis
Other namesSinus infection, rhinosinusitis
A CT scan showing sinusitis of the ethmoid sinus
SpecialtyOtorhinolaryngology
SymptomsThick nasal mucus, plugged nose, pa... | Sinusitis | c0037199 | 4,929 | wikipedia | https://en.wikipedia.org/wiki/Sinusitis | 2021-01-18T19:03:07 | {"mesh": ["D012852"], "umls": ["C0037199"], "wikidata": ["Q183344"]} |
Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Ba... | Amoebiasis due to free-living amoebae | None | 4,930 | gard | https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae | 2021-01-18T18:02:09 | {"synonyms": []} |
A number sign (#) is used with this entry because variation in the IRAKM gene (604459) has been associated with susceptibility to asthma-related traits linked to the chromosome 12q13-q24 region.
Description
Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial... | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 | c1970224 | 4,931 | omim | https://www.omim.org/entry/611064 | 2019-09-22T16:03:42 | {"omim": ["611064"], "synonyms": ["Alternative titles", "ASRT5"]} |
This article is missing information about causes of condition. Please expand the article to include this information. Further details may exist on the talk page. (April 2020)
Penoscrotal transposition (PST) is a group of congenital defects involving an abnormal spatial arrangement of penis and scrotum.
## Conte... | Penoscrotal transposition | c1868854 | 4,932 | wikipedia | https://en.wikipedia.org/wiki/Penoscrotal_transposition | 2021-01-18T18:36:12 | {"gard": ["4273"], "mesh": ["C536650"], "umls": ["C1868854"], "orphanet": ["2842"], "wikidata": ["Q55786963"]} |
Myelophthisic anemia
SpecialtyHematology
Myelophthisic anemia (or myelophthisis) is a severe type of anemia found in some people with diseases that affect the bone marrow. Myelophthisis refers to the displacement of hemopoietic bone-marrow tissue[1] by fibrosis, tumors, or granulomas. The word comes from t... | Myelophthisic anemia | c0002890 | 4,933 | wikipedia | https://en.wikipedia.org/wiki/Myelophthisic_anemia | 2021-01-18T18:46:27 | {"mesh": ["D000750"], "umls": ["C0002890"], "icd-9": ["284.2"], "wikidata": ["Q3331923"]} |
Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum py... | Mitochondrial myopathy-lactic acidosis-deafness syndrome | c1855033 | 4,934 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2597 | 2021-01-23T17:18:49 | {"gard": ["3682"], "mesh": ["C537476"], "omim": ["251950"], "umls": ["C1855033"], "icd-10": ["G71.3"], "synonyms": ["Mitochondrial myopathy-lactic acidosis-hearing loss syndrome"]} |
A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.
## Epidemiology
Whilst about 66 cases have been described to... | Umbilical cord ulceration-intestinal atresia syndrome | c2931371 | 4,935 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3405 | 2021-01-23T17:46:37 | {"gard": ["5403"], "mesh": ["C536938"], "umls": ["C2931371"]} |
Familial Partial Lipodystrophy, Dunnigan Type
Autosomal dominant is the manner of inheritance of this condition
Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the ... | Dunnigan familial partial lipodystrophy | c1720860 | 4,936 | wikipedia | https://en.wikipedia.org/wiki/Dunnigan_familial_partial_lipodystrophy | 2021-01-18T18:50:51 | {"mesh": ["D052496"], "orphanet": ["2348"], "wikidata": ["Q5315596"]} |
Continued use of cannabis despite clinically significant impairment
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... | Cannabis use disorder | c0006870 | 4,937 | wikipedia | https://en.wikipedia.org/wiki/Cannabis_use_disorder | 2021-01-18T18:46:45 | {"mesh": ["D002189"], "umls": ["C0006870"], "wikidata": ["Q3743620"]} |
A number sign (#) is used with this entry because of evidence that recurrent infections associated with encephalopathy, hepatic dysfunction, and cardiovascular malformations is caused by homozygous mutation in the FADD gene (602457) on chromosome 11q13.3.
Clinical Features
Bolze et al. (2010) studied a large co... | INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS | c3151062 | 4,938 | omim | https://www.omim.org/entry/613759 | 2019-09-22T15:57:34 | {"omim": ["613759"], "orphanet": ["306550"], "synonyms": ["FADD DEFICIENCY", "Alternative titles"]} |
A number sign (#) is used with this entry because of evidence that cavitary optic disc anomalies (CODA) is caused by heterozygous mutation in the MMP19 gene (601807) on chromosome 12q13.
Clinical Features
Honkanen et al. (2007) reported a 4-generation family, descended from a Russian immigrant who settled in the mi... | CAVITARY OPTIC DISC ANOMALIES | c1969063 | 4,939 | omim | https://www.omim.org/entry/611543 | 2019-09-22T16:03:09 | {"mesh": ["C566924"], "omim": ["611543"], "orphanet": ["464760"], "synonyms": ["Familial CODA"]} |
Melanistic black eastern grey squirrel
Melanistic guinea pigs are rare, and are used in rituals by Andean curanderos.[1]
The term melanism refers to black pigment and is derived from the Greek: μελανός.[2] Melanism is the increased development of the dark-colored pigment melanin in the skin or hair.
Pseudomelanism... | Melanism | c0025209 | 4,940 | wikipedia | https://en.wikipedia.org/wiki/Melanism | 2021-01-18T19:01:37 | {"mesh": ["D008548"], "wikidata": ["Q725450"]} |
Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity. GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures, which are triggered by a high fever, and recurrent seizures (epilepsy) of other types, including seizures that are no... | Genetic epilepsy with febrile seizures plus | c2751604 | 4,941 | medlineplus | https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus/ | 2021-01-27T08:25:44 | {"gard": ["10430", "2169"], "omim": ["613060", "607681", "604233", "604403", "613863", "616172"], "synonyms": []} |
A coronary occlusion is the partial or complete obstruction of blood flow in a coronary artery. This condition may cause a heart attack.
In some patients coronary occlusion causes only mild pain, tightness or vague discomfort which may be ignored; however, the myocardium, the muscle tissue of the heart, may be damag... | Coronary occlusion | c0151814 | 4,942 | wikipedia | https://en.wikipedia.org/wiki/Coronary_occlusion | 2021-01-18T18:41:25 | {"mesh": ["D054059"], "wikidata": ["Q5172192"]} |
Personality disorder
Haltlose personality disorder
Other names\- Willenlosen Psychopath[1][2][3]
\- Unstable psychopath[4]
\- Unstable drifter[5][6][7]
\- Disinhibited Personality[8]
SpecialtyPsychiatry
Usual onsetEarly adulthood[9]
DurationLong term
Causes\- Maternal indolence (proposed)[10] ... | Haltlose personality disorder | None | 4,943 | wikipedia | https://en.wikipedia.org/wiki/Haltlose_personality_disorder | 2021-01-18T18:41:33 | {"icd-10": ["F60.8"], "wikidata": ["Q5643617"]} |
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnorm... | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | c1832466 | 4,944 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1171 | 2021-01-23T18:56:17 | {"gard": ["1188"], "mesh": ["C535351"], "omim": ["601338"], "umls": ["C1832466"], "icd-10": ["G11.0"], "synonyms": ["CAPOS syndrome", "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome"]} |
Aspect of human sexuality
Spinal cord injury affects sexual function, but many people with the condition have fulfilling relationships and sex lives.
Although spinal cord injury (SCI) often causes sexual dysfunction, many people with SCI are able to have satisfying sex lives. Physical limitations acquired from SCI ... | Sexuality after spinal cord injury | None | 4,945 | wikipedia | https://en.wikipedia.org/wiki/Sexuality_after_spinal_cord_injury | 2021-01-18T18:39:05 | {"wikidata": ["Q21452236"]} |
Soff et al. (1981) reported 4 families with combined deficiency of coagulation factors VIII, IX and XI. Family 1 had several persons with dislocations, e.g., of patella and hips, and several who had possible hemarthrosis related to trauma. Other probands were referred because of the finding of prolonged partial throm... | FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF | c1851375 | 4,946 | omim | https://www.omim.org/entry/134520 | 2019-09-22T16:41:14 | {"mesh": ["C565023"], "omim": ["134520"], "synonyms": ["Alternative titles", "FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY V", "MULTIPLE COAGULATION FACTOR DEFICIENCY V"]} |
Congenital disorder of nervous system
Zellweger syndrome
Other namesCerebrohepatorenal syndrome
Zellweger syndrome is inherited in an autosomal recessive manner
SpecialtyMedical genetics
Complicationspneumonia and respiratory distress.
Zellweger syndrome is a rare congenital disorder characterized by th... | Zellweger syndrome | c0043459 | 4,947 | wikipedia | https://en.wikipedia.org/wiki/Zellweger_syndrome | 2021-01-18T19:04:16 | {"gard": ["7917"], "mesh": ["D015211"], "umls": ["C0043459"], "icd-9": ["277.86", "759.8"], "orphanet": ["912", "1271"], "wikidata": ["Q189167"]} |
Nail-patella syndrome causes changes in the nails, elbows, kneecaps (patellae), and hip bone. The most common symptom of the syndrome is having missing or underdeveloped fingernails and toenails. Other symptoms may include having small or missing kneecaps, underdeveloped elbows, and an extra small piece of bone o... | Nail-patella syndrome | c0027341 | 4,948 | gard | https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome | 2021-01-18T17:58:48 | {"mesh": ["D009261"], "omim": ["161200"], "umls": ["C0027341"], "orphanet": ["2614"], "synonyms": ["NPS 1", "Onychoosteodysplasia", "Turner-Kieser syndrome", "Fong disease", "Osteo-Onychodysplasia", "Arthro-Onychodysplasia"]} |
A number sign (#) is used with this entry because of evidence that the disorder can be caused by mutation in several mitochondrial genes, including MTTL1 (590050), MTTE (590025), and MTTK (590060).
The most common mutation is a 3243A-G transition in the MTTL1 gene (590050.0001).
Description
Maternally inherited di... | DIABETES AND DEAFNESS, MATERNALLY INHERITED | c0342289 | 4,949 | omim | https://www.omim.org/entry/520000 | 2019-09-22T16:16:49 | {"mesh": ["C536246"], "omim": ["520000"], "orphanet": ["225"], "synonyms": ["Alternative titles", "DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED", "BALLINGER-WALLACE SYNDROME", "DIABETES MELLITUS, TYPE II, WITH DEAFNESS", "NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESS", "NIDDM WITH DEAFNESS"]} |
Zinc deficiency
Zinc
SpecialtyEndocrinology
Causesa diet high in phytate-containing whole grains
Zinc deficiency is defined either as insufficient zinc to meet the needs of the body, or as a serum zinc level below the normal range. However, since a decrease in the serum concentration is only detectable aft... | Zinc deficiency | c0235950 | 4,950 | wikipedia | https://en.wikipedia.org/wiki/Zinc_deficiency | 2021-01-18T18:59:10 | {"umls": ["C0235950"], "icd-9": ["269.3"], "icd-10": ["E60"], "wikidata": ["Q8072298"]} |
A number sign (#) is used with this entry because of evidence that isolated microphthalmia and/or coloboma (MCOPCB10) is caused by heterozygous mutation in the RBP4 gene (180250) on chromosome 10q23.
Clinical Features
Chou et al. (2015) studied a 7-generation pedigree in which 11 family members had microphthalm... | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 | c2931501 | 4,951 | omim | https://www.omim.org/entry/616428 | 2019-09-22T15:48:55 | {"mesh": ["C537463"], "omim": ["616428"], "orphanet": ["98938"]} |
Facioscapulohumeral muscular dystrophy
Other namesLandouzy–Dejerine muscular dystrophy, FSHMD, FSH
A diagram showing in red the muscles commonly involved in FSHD
Pronunciation
* /fæʃiːoʊskæpjəloʊˈhjumərəl/
SpecialtyNeurology, neuromuscular medicine
SymptomsFacial weakness, scapular winging, foot dro... | Facioscapulohumeral muscular dystrophy | c0238288 | 4,952 | wikipedia | https://en.wikipedia.org/wiki/Facioscapulohumeral_muscular_dystrophy | 2021-01-18T18:44:04 | {"gard": ["9941"], "mesh": ["D020391"], "umls": ["C0238288"], "icd-9": ["359.1"], "wikidata": ["Q1399182"]} |
Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.
## Epidemiology
It affects around 1/500 000 individuals. Patients are mostly male (68-78% of cases) and adolescen... | Kleine-Levin syndrome | c0206085 | 4,953 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33543 | 2021-01-23T18:29:27 | {"gard": ["3117"], "mesh": ["D017593"], "omim": ["148840"], "umls": ["C0206085"], "icd-10": ["G47.8"]} |
Vitiligo ponctué
SpecialtyDermatology
Vitiligo ponctué is a cutaneous condition, an unusual form of vitiligo, characterized by small confetti-like or tiny, discrete macules that may occur on otherwise normal or unusually darkened skin.[1]
## See also[edit]
* Quadrichrome vitiligo
* List of cutaneous cond... | Vitiligo ponctué | None | 4,954 | wikipedia | https://en.wikipedia.org/wiki/Vitiligo_ponctu%C3%A9 | 2021-01-18T18:56:43 | {"wikidata": ["Q7937094"]} |
A number sign (#) is used with this entry because of evidence that pyridoxamine 5-prime-phosphate oxidase deficiency (PNPOD) is caused by homozygous or compound heterozygous mutation in the PNPO gene (603287) on chromosome 17q21.
Description
PNPOD is an autosomal recessive inborn error of metabolism resulting i... | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | c1864723 | 4,955 | omim | https://www.omim.org/entry/610090 | 2019-09-22T16:05:11 | {"doid": ["0111329"], "mesh": ["C566449"], "omim": ["610090"], "orphanet": ["79096"], "synonyms": ["Alternative titles", "PNPO DEFICIENCY", "SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE", "EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED"]} |
Folic acid plays an important role in normal human growth, development, and function. Insufficient folate levels appear to be a risk factor for neural tube defects (see 601634), as well as for vascular disease of later life. To estimate the relative contribution of genetic and nongenetic factors to variation in folat... | FOLATE LEVEL IN ERYTHROCYTES | c1866295 | 4,956 | omim | https://www.omim.org/entry/601775 | 2019-09-22T16:14:21 | {"omim": ["601775"]} |
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline n... | Cat-eye syndrome | c0265493 | 4,957 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=195 | 2021-01-23T18:43:34 | {"gard": ["26"], "mesh": ["C535918"], "omim": ["115470"], "umls": ["C0265493"], "icd-10": ["Q92.8"], "synonyms": ["CES"]} |
A number sign (#) is used with this entry because of evidence that Prader-Willi syndrome (PWS) is in effect a contiguous gene syndrome resulting from deletion of the paternal copies of the imprinted SNRPN gene (182279), the NDN gene (602117), and possibly other genes within the chromosome region 15q11-q13.
Descripti... | PRADER-WILLI SYNDROME | c0032897 | 4,958 | omim | https://www.omim.org/entry/176270 | 2019-09-22T16:35:51 | {"doid": ["11983"], "mesh": ["D011218"], "omim": ["176270"], "icd-9": ["759.81"], "icd-10": ["Q87.1"], "orphanet": ["739"], "synonyms": ["Alternative titles", "PRADER-LABHART-WILLI SYNDROME"], "genereviews": ["NBK1330"]} |
## Description
Glucose is the major source of energy in humans, with levels in vivo determined by a balance of glucose absorption via the gut, production primarily by the liver, and utilization by both insulin-sensitive and insulin-insensitive tissues. Blood and plasma fasting glucose levels are tightly regulated w... | FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1 | c2677501 | 4,959 | omim | https://www.omim.org/entry/612108 | 2019-09-22T16:02:20 | {"omim": ["612108"]} |
Occurs when a reservoir population causes an epidemic in a novel host population
Spillover infection, also known as pathogen spillover and spillover event, occurs when a reservoir population with a high pathogen prevalence comes into contact with a novel host population. The pathogen is transmitted from the reservoi... | Spillover infection | None | 4,960 | wikipedia | https://en.wikipedia.org/wiki/Spillover_infection | 2021-01-18T19:08:49 | {"wikidata": ["Q16000336"]} |
Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertensio... | Idiopathic/heritable pulmonary arterial hypertension | c4552070 | 4,961 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=422 | 2021-01-23T18:25:42 | {"mesh": ["D065627"], "omim": ["178600", "265400", "615342", "615343", "615344"], "icd-10": ["I27.0"], "synonyms": ["Idiopathic and/or familial pulmonary arterial hypertension"]} |
Rapid, irregular beating of the atria of the heart
Atrial fibrillation
Other namesAuricular fibrillation[1]
Leads V4 and V5 of an electrocardiogram showing atrial fibrillation with somewhat irregular intervals between heart beats, no P waves, and a heart rate of about 150 beats per minute.
SpecialtyCardiology ... | Atrial fibrillation | c0004238 | 4,962 | wikipedia | https://en.wikipedia.org/wiki/Atrial_fibrillation | 2021-01-18T19:05:01 | {"mesh": ["D001281"], "umls": ["C0004238"], "wikidata": ["Q815819"]} |
Rolando fracture
SpecialtyHand surgery
The Rolando fracture is a comminuted intra-articular fracture through the base of the first metacarpal bone (the first bone forming the thumb[1]). It was first described in 1910 by Silvio Rolando.[2] This is a fracture consisting of 3 distinct fragments; it is typical... | Rolando fracture | None | 4,963 | wikipedia | https://en.wikipedia.org/wiki/Rolando_fracture | 2021-01-18T18:47:10 | {"umls": ["CL427952"], "icd-10": ["S62.2"], "wikidata": ["Q7360596"]} |
Gallstone ileus
SpecialtyGastroenterology
Gallstone ileus is a rare form of small bowel obstruction caused by an impaction of a gallstone within the lumen of the small intestine. Such a gallstone enters the bowel via a cholecysto-enteric fistula. The presence of large stones, >2.5 cm in diameter, within th... | Gallstone ileus | c0156156 | 4,964 | wikipedia | https://en.wikipedia.org/wiki/Gallstone_ileus | 2021-01-18T19:00:54 | {"umls": ["C0156156"], "icd-10": ["K56.3"], "wikidata": ["Q1492299"]} |
Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.
## Epidemio... | Cleft palate-lateral synechia syndrome | c0795898 | 4,965 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2016 | 2021-01-23T17:33:10 | {"gard": ["1391"], "mesh": ["C563047"], "omim": ["119550"], "umls": ["C0795898"], "icd-10": ["Q87.8"], "synonyms": ["CPLS syndrome"]} |
## Mapping
Liu et al. (2009) tested 379,319 SNPs in 1,000 unrelated Caucasian individuals and found that 2 intronic SNPs within the TRHR gene (188545) on chromosome 8q23, rs16892496 and rs7832552, were significantly associated with lean body mass (LBM; corrected p = 7.55 x 10(-8) and 7.58 x 10(-8), respectively). I... | LEAN BODY MASS QUANTITATIVE TRAIT LOCUS 1 | c2674799 | 4,966 | omim | https://www.omim.org/entry/612729 | 2019-09-22T16:00:41 | {"omim": ["612729"]} |
Fletcher et al. (1997) mapped to mouse chromosome 11 a leucine zipper protein gene (Cdr3) that shows considerable homology to cerebellar degeneration-related autoantigen-2 (CDR2; 117340). From the location of the Cdr3 gene on chromosome 11, the homologous human gene, CDR3, was predicted to be located on 17q25.
... | CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 | c1865782 | 4,967 | omim | https://www.omim.org/entry/602197 | 2019-09-22T16:13:53 | {"omim": ["602197"], "synonyms": ["Alternative titles", "CDR3"]} |
This article is about infection of the tip of the finger. For infection at the side or base of the fingernail, see Paronychia. For other uses, see Whitlow (disambiguation).
Infection of the fingertip
A whitlow or felon is an infection of the tip of the finger.[1][2][a] Herpetic whitlow and melanotic whitlow (subung... | Whitlow | c0152448 | 4,968 | wikipedia | https://en.wikipedia.org/wiki/Whitlow | 2021-01-18T18:52:17 | {"umls": ["C0152448"], "icd-9": ["681.01"], "wikidata": ["Q659001"]} |
Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous impro... | Ichthyosis-prematurity syndrome | c1837610 | 4,969 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88621 | 2021-01-23T18:25:35 | {"gard": ["9886"], "mesh": ["C536271"], "omim": ["608649"], "umls": ["C1837610"], "synonyms": ["Congenital ichthyosis type 4", "IPS"]} |
Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.
## Epidemiology
To date, 7 cases of GCM have been described in the world litera... | Gorlin-Chaudhry-Moss syndrome | c0345382 | 4,970 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2095 | 2021-01-23T18:58:22 | {"gard": ["66"], "mesh": ["C537290"], "omim": ["612289"], "umls": ["C0345382"], "icd-10": ["Q87.0"], "synonyms": ["Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome", "Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome", "Dental and eye anomalies-patent ductus arteriosus-normal ... |
A number sign (#) is used with this entry because CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy (HACD59) is caused by homozygous mutation in the CD59 gene (107271) on chromosome 11p13.
Description
CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal rece... | HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY | c2676767 | 4,971 | omim | https://www.omim.org/entry/612300 | 2019-09-22T16:01:52 | {"mesh": ["C567355"], "omim": ["612300"], "orphanet": ["169464"], "synonyms": ["Alternative titles", "CD59 DEFICIENCY"]} |
BENTA disease (B cell Expansion with NF-κB and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr viru... | BENTA disease | c4551967 | 4,972 | gard | https://rarediseases.info.nih.gov/diseases/13339/benta-disease | 2021-01-18T18:01:49 | {"synonyms": ["B-cell expansion with NF-kB and T-cell anergy disease", "B-cell expansion with NFKB and T-cell anergy"]} |
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Hameed et al. (2001) reported a 6-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals had pigmentary retinopathy associ... | RETINITIS PIGMENTOSA 29 | c0035334 | 4,973 | omim | https://www.omim.org/entry/612165 | 2019-09-22T16:02:16 | {"doid": ["0110378"], "mesh": ["D012174"], "omim": ["612165"], "orphanet": ["791"]} |
Renal disease occurs in 40 to 75% of systemic lupus erythematosus (SLE; 152700) patients and significantly contributes to morbidity and mortality (Garcia et al., 1996). Quintero-Del-Rio et al. (2002) explored the impact of the American College of Rheumatology's renal criterion for SLE classification on genetic linkag... | SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2 | c1842756 | 4,974 | omim | https://www.omim.org/entry/607966 | 2019-09-22T16:08:29 | {"omim": ["607966"]} |
Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision. Signs and symptoms of MAR may include night blindness; photopsia (presence of perceived flashes of light); and progressive, painless vision loss. MAR occurs ... | Melanoma-associated retinopathy | c0730308 | 4,975 | gard | https://rarediseases.info.nih.gov/diseases/12041/melanoma-associated-retinopathy | 2021-01-18T17:59:10 | {"mesh": ["D059545"], "synonyms": []} |
Twelve cases of short, absent or partially fused radius and ulna and abnormalities of the digits were found in 3 generations by Stiles and Dougan (1940).
Limbs \- Short, absent or partially fused radius and ulna \- Abnormal digits Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discu... | ARMS, MALFORMATION OF | c1862534 | 4,976 | omim | https://www.omim.org/entry/107900 | 2019-09-22T16:44:46 | {"mesh": ["C566258"], "omim": ["107900"]} |
Brazilian purpuric fever
SpecialtyInfectious disease
Brazilian purpuric fever (BPF) is an illness of children caused by the bacterium Haemophilus influenzae biogroup aegyptius which is ultimately fatal due to sepsis. BPF was first recognized in the São Paulo state of Brazil in 1984. At this time, young childre... | Brazilian purpuric fever | c0275703 | 4,977 | wikipedia | https://en.wikipedia.org/wiki/Brazilian_purpuric_fever | 2021-01-18T18:52:09 | {"umls": ["C0275703"], "icd-10": ["A48.4"], "wikidata": ["Q4958908"]} |
A number sign (#) is used with this entry because nephronophthisis-14 (NPHP14) is caused by homozygous mutation in the ZNF423 gene (604557) on chromosome 16. Heterozygous mutation in the ZNF423 gene causes Joubert syndrome-19 (JBTS19).
For a general phenotypic description and a discussion of genetic heterogeneit... | NEPHRONOPHTHISIS 14 | c1855675 | 4,978 | omim | https://www.omim.org/entry/614844 | 2019-09-22T15:54:03 | {"doid": ["0111122"], "mesh": ["C537430"], "omim": ["614844"], "orphanet": ["2318"], "genereviews": ["NBK368475", "NBK1325"]} |
A number sign (#) is used with this entry because of evidence that progressive familial heart block type IB (PFHB1B) is caused by heterozygous mutation in the TRPM4 gene (606936) on chromosome 19q13.
For a phenotypic description and a discussion of genetic heterogeneity of progressive familial heart block type I, se... | PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB | c1879286 | 4,979 | omim | https://www.omim.org/entry/604559 | 2019-09-22T16:11:55 | {"doid": ["0111076"], "mesh": ["C566873"], "omim": ["604559"], "orphanet": ["871"], "synonyms": ["Alternative titles", "PFHBIB"]} |
Not to be confused with Daydream, Fantasy (psychology), or Maladaptive daydreaming.
A fixed fantasy – also known as a "dysfunctional schema" – is a belief or system of beliefs held by a single individual to be genuine, but that cannot be verified in reality. The term is typically applied to individuals suffering fro... | Fixed fantasy | None | 4,980 | wikipedia | https://en.wikipedia.org/wiki/Fixed_fantasy | 2021-01-18T18:28:34 | {"wikidata": ["Q5456364"]} |
Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin... | Localized scleroderma | c0036420 | 4,981 | gard | https://rarediseases.info.nih.gov/diseases/7058/localized-scleroderma | 2021-01-18T17:59:20 | {"mesh": ["D012594"], "umls": ["C0036420"], "orphanet": ["90289"], "synonyms": ["Scleroderma, localized", "Localized fibrosing scleroderma"]} |
Milk-alkali syndrome
Other namesCalcium-alkali syndrome[1]
In medicine, milk-alkali syndrome is characterized by high blood calcium and metabolic alkalosis caused by taking in too much calcium and absorbable alkali; common sources of calcium and alkali are dietary supplements taken to prevent osteoporosis and ... | Milk-alkali syndrome | c0026141 | 4,982 | wikipedia | https://en.wikipedia.org/wiki/Milk-alkali_syndrome | 2021-01-18T18:31:47 | {"mesh": ["D006934"], "icd-9": ["275.42"], "wikidata": ["Q441094"]} |
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dy... | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | c4014821 | 4,983 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370022 | 2021-01-23T17:13:53 | {"omim": ["615960"], "icd-10": ["G11.1"], "synonyms": ["Poretti-Boltshauser syndrome"]} |
An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.
## Epidemiology
Like other globin gene disorders, alpha-thalassemia is highly prevalent in all tropical and subtropical regions (around 1/10,00... | Alpha-thalassemia | c0002312 | 4,984 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=846 | 2021-01-23T17:47:55 | {"gard": ["621"], "mesh": ["D017085"], "omim": ["604131"], "umls": ["C0002312", "C1456873"], "icd-10": ["D56.0"]} |
Heterotopic pregnancy
Play media
Ruptured heterotopic pregnancy on ultrasound[1]
SpecialtyObstetrics
A heterotopic pregnancy is a rare[2][3] complication of pregnancy in which both extra-uterine (ectopic pregnancy) and intrauterine pregnancy occur simultaneously.[4] It may also be referred to as a co... | Heterotopic pregnancy | c0269291 | 4,985 | wikipedia | https://en.wikipedia.org/wiki/Heterotopic_pregnancy | 2021-01-18T19:10:39 | {"mesh": ["D063192"], "icd-9": ["633.8"], "icd-10": ["O00.8"], "wikidata": ["Q3117073"]} |
Spina bifida is a type of neural tube defect in which the neural tube (the structure in an embryo that becomes the brain and spinal cord) does not completely close during development in the womb. This may result in part of the spinal cord sticking out through an opening in the spine, leading to permanent nerve da... | Spina bifida | c0080178 | 4,986 | gard | https://rarediseases.info.nih.gov/diseases/7673/spina-bifida | 2021-01-18T17:57:38 | {"mesh": ["D016135"], "orphanet": ["823"], "synonyms": ["Spinal dysraphism", "Cleft spine", "Open spine", "Rachischisis", "Isolated spina bifida"]} |
A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.
## Epidemiology
Prevalence is unknown but around 200 cases have been reported in the literature so far.
## Clinical description
Onset is insidious, usually occurring at around 50 y... | Multicentric reticulohistiocytosis | c0311284 | 4,987 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139436 | 2021-01-23T18:39:11 | {"gard": ["7103"], "umls": ["C0311284"], "icd-10": ["D76.3"], "synonyms": ["Giant cell histiocytomatosis", "Lipoid dermatoarthritis"]} |
Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart b... | Digitalis poisoning | c0274726 | 4,988 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=31828 | 2021-01-23T18:35:33 | {"icd-10": ["T46.0"]} |
A number sign (#) is used with this entry because of evidence that Carpenter syndrome-2 (CRPT2) is caused by homozygous or compound heterozygous mutation in the MEGF8 gene (604267) on chromosome 19q13.
Description
Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized... | CARPENTER SYNDROME 2 | c1275078 | 4,989 | omim | https://www.omim.org/entry/614976 | 2019-09-22T15:53:42 | {"doid": ["0060234"], "mesh": ["C563187"], "omim": ["614976"], "orphanet": ["65759"]} |
A number sign (#) is used with this entry because choreoacanthocytosis can be caused by homozygous or compound heterozygous mutation in the VPS13A gene (605978), which encodes chorein, on chromosome 9q21.
Description
Choreoacanthocytosis (CHAC) is a rare disorder characterized by progressive neurodegeneration and r... | CHOREOACANTHOCYTOSIS | c0393576 | 4,990 | omim | https://www.omim.org/entry/200150 | 2019-09-22T16:31:42 | {"doid": ["0050766"], "mesh": ["D054546"], "omim": ["200150"], "orphanet": ["2388"], "synonyms": ["Alternative titles", "LEVINE-CRITCHLEY SYNDROME", "ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER", "NEUROACANTHOCYTOSIS", "CHOREA-ACANTHOCYTOSIS"], "genereviews": ["NBK1387"]} |
Pericardial cyst is an abnormal dilatation of pericardium of the heart.
## Contents
* 1 Types
* 2 Clinical features
* 3 Diagnosis
* 4 References
## Types[edit]
Pericardial cyst can be simple or complex. Simple pericardial cyst are usually more prevalent with water, blood, or necrotic content. Complex cyst... | Pericardial cyst | c0031038 | 4,991 | wikipedia | https://en.wikipedia.org/wiki/Pericardial_cyst | 2021-01-18T19:05:25 | {"mesh": ["D008476"], "umls": ["C0031038"], "wikidata": ["Q9360143"]} |
A number sign (#) is used with this entry because methylmalonic aciduria (MMA) of the complementation group 'mut' is caused by mutation in the gene encoding methylmalonyl-CoA mutase (MUT; 609058).
Description
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vi... | METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY | c1855114 | 4,992 | omim | https://www.omim.org/entry/251000 | 2019-09-22T16:25:15 | {"doid": ["0060740"], "mesh": ["C565390"], "omim": ["251000"], "orphanet": ["79312", "289916", "27"], "synonyms": ["Vitamin B12-unresponsive methylmalonic aciduria type mut-", "Alternative titles", "METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MMA DUE TO MCM DEFICIENCY", "METHYLMALONIC ACIDURIA, mu... |
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Find sources: "Atypical trigeminal neuralgia" – news · newspapers · books · scholar · JSTOR (March 2015) (Learn how and when to remove... | Atypical trigeminal neuralgia | None | 4,993 | wikipedia | https://en.wikipedia.org/wiki/Atypical_trigeminal_neuralgia | 2021-01-18T18:49:50 | {"icd-9": ["350.1"], "icd-10": ["G50.0"], "wikidata": ["Q758292"]} |
Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symp... | Self-healing papular mucinosis | None | 4,994 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90397 | 2021-01-23T17:14:45 | {"icd-10": ["L98.5"]} |
## Clinical Features
Okamoto et al. (1997) reported what they believed to be a new MCA/MR syndrome in a 2-year-old Japanese girl and an unrelated 15-month-old Japanese boy. Manifestations included congenital hydronephrosis, severe mental retardation, growth failure, generalized floppiness, and cleft palate. The fac... | HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES, HYPOTONIA, AND MENTAL RETARDATION | c1858043 | 4,995 | omim | https://www.omim.org/entry/604916 | 2019-09-22T16:11:41 | {"mesh": ["C565736"], "omim": ["604916"], "orphanet": ["2729"], "synonyms": ["OKAMOTO SYNDROME", "Alternative titles"]} |
Marinesco-Sjögren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjögren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) an... | Marinesco-Sjögren syndrome | c0024814 | 4,996 | medlineplus | https://medlineplus.gov/genetics/condition/marinesco-sjogren-syndrome/ | 2021-01-27T08:25:45 | {"gard": ["8341"], "mesh": ["D013132"], "omim": ["248800"], "synonyms": []} |
Turner syndrome is a sporadic disorder of females in which all or part of one X chromosome is deleted. Characteristic features include short stature with somatic features such as broad, 'shield-like' chest, webbed neck, low-set ears, and gonadal dysgenesis. The cytogenetically full-blown form is characterized by 45 c... | COGNITIVE FUNCTION 1, SOCIAL | c1848140 | 4,997 | omim | https://www.omim.org/entry/300082 | 2019-09-22T16:20:54 | {"omim": ["300082"], "synonyms": ["Alternative titles", "SOCIAL COGNITION"]} |
A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There ha... | Spastic paraplegia-neuropathy-poikiloderma syndrome | c1866851 | 4,998 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2821 | 2021-01-23T17:29:36 | {"gard": ["4921"], "mesh": ["C536870"], "omim": ["182815"], "umls": ["C1866851"], "synonyms": ["Antinolo-Nieto-Borrego syndrome"]} |
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-8 (CSS8) is caused by heterozygous mutation in the SMARCC2 gene (601734) on chromosome 12q13.
Description
Coffin-Siris syndrome-8 is characterized by variable degrees of impaired intellectual development including speech impair... | COFFIN-SIRIS SYNDROME 8 | c0265338 | 4,999 | omim | https://www.omim.org/entry/618362 | 2019-09-22T15:42:18 | {"mesh": ["C536436"], "omim": ["618362"], "orphanet": ["1465"]} |
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