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Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible la... | Charcot-Marie-Tooth disease type 1D | c1843247 | 6,700 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101084 | 2021-01-23T18:12:17 | {"gard": ["9189"], "mesh": ["C537985"], "omim": ["607678"], "umls": ["C1843247"], "icd-10": ["G60.0"], "synonyms": ["CMT1D"]} |
Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see t... | NK-cell enteropathy | c4509932 | 6,701 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263665 | 2021-01-23T17:52:40 | {"icd-10": ["K63.8"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (February 2013)
HL23V was reputedly a type C RNA tumor virus first isolated in 1975 from cultured human acute myelogenous leukaemia peripheral blood leuko... | HL23V | None | 6,702 | wikipedia | https://en.wikipedia.org/wiki/HL23V | 2021-01-18T19:05:11 | {"wikidata": ["Q5630028"]} |
A number sign (#) is used with this entry because of evidence that multiple synostoses syndrome-1 (SYNS1) is caused by heterozygous mutation in the NOG gene (602991) on chromosome 17q22.
Description
Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conduct... | MULTIPLE SYNOSTOSES SYNDROME 1 | c0175700 | 6,703 | omim | https://www.omim.org/entry/186500 | 2019-09-22T16:32:58 | {"doid": ["0050794"], "omim": ["186500"], "orphanet": ["3237"], "synonyms": ["Alternative titles", "SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY", "SYMPHALANGISM-BRACHYDACTYLY SYNDROME", "WL SYNDROME", "DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN", "FACIOAUDIOSYMPHALANGISM SYNDROME"]} |
Skin disease of unknown pathology
Morgellons
Pseudomedical diagnosis
RisksNocebo
This article is part of a series on
Alternative medicine
General information
* Alternative medicine
* Alternative veterinary medicine
* Quackery (Health fraud)
* History of alternative medicine
* Rise of modern m... | Morgellons | c2350431 | 6,704 | wikipedia | https://en.wikipedia.org/wiki/Morgellons | 2021-01-18T18:42:09 | {"gard": ["9805"], "mesh": ["D055535"], "wikidata": ["Q41398"]} |
Increase in the number of monocytes circulating in the blood
Monocytosis
SpecialtyHematology
Monocytosis is an increase in the number of monocytes circulating in the blood.[1] Monocytes are white blood cells that give rise to macrophages and dendritic cells in the immune system.
In humans, monocytosis oc... | Monocytosis | c0085702 | 6,705 | wikipedia | https://en.wikipedia.org/wiki/Monocytosis | 2021-01-18T18:42:12 | {"icd-9": ["288.8"], "icd-10": ["D72.8"], "wikidata": ["Q1682044"]} |
## Clinical Features
Goodman et al. (1972) described this combination in 2 sisters and a brother from unaffected first-cousin, Iranian-Jewish parents. The brother was referred at age 19 for possible Marfan syndrome. At age 7 patent ductus arteriosus (see 607411) was ligated. The nose in all 3 affected sibs was ... | CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA | c1859357 | 6,706 | omim | https://www.omim.org/entry/211930 | 2019-09-22T16:30:17 | {"mesh": ["C537974"], "omim": ["211930"], "orphanet": ["1321"]} |
Second infection on top of a previous one
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: ... | Superinfection | c0038826 | 6,707 | wikipedia | https://en.wikipedia.org/wiki/Superinfection | 2021-01-18T18:33:27 | {"mesh": ["D015163"], "umls": ["C0038826"], "wikidata": ["Q1563808"]} |
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: "Oophoritis" – news · newspapers · books · scholar · JSTOR (October 2018) (Learn how and when to remove this templat... | Oophoritis | c0029051 | 6,708 | wikipedia | https://en.wikipedia.org/wiki/Oophoritis | 2021-01-18T18:52:52 | {"mesh": ["D009869"], "umls": ["C0029051"], "icd-9": ["614.2", "Grave enfermedad crónica que sufre Eric."], "wikidata": ["Q2851545"]} |
Type of human birthmark
Nevus of Ota[dubious – discuss]
Other namesCongenital melanosis bulbi,[1] nevus fuscoceruleus ophthalmomaxillaris, oculodermal melanocytosis,[2]:700 oculomucodermal melanocytosis[1]
SpecialtyOncology
Nevus of Ota is a blue[dubious – discuss] hyperpigmentation[3] that occurs on th... | Nevus of Ota | c0027961 | 6,709 | wikipedia | https://en.wikipedia.org/wiki/Nevus_of_Ota | 2021-01-18T18:30:15 | {"mesh": ["D009507"], "umls": ["C0027961"], "icd-10": ["D22.3"], "orphanet": ["263425"], "wikidata": ["Q2053690"]} |
An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
## Epidemiology
The prevalence of WS2 is unknown; the worldwide prevalence of WS is estimated at around 1/40,000. WS2 is one ... | Waardenburg syndrome type 2 | c2700265 | 6,710 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=895 | 2021-01-23T19:12:30 | {"gard": ["5520"], "mesh": ["C536463"], "omim": ["193510", "600193", "606662", "608890", "611584"], "umls": ["C2700265"], "icd-10": ["E70.3"], "synonyms": ["WS2", "Waardenburg syndrome type II"]} |
A number sign (#) is used with this entry because MASA syndrome, also known as spastic paraplegia-1 (SPG1), is caused by mutation in the gene encoding the L1 cell adhesion molecule (L1CAM; 308840).
X-linked aqueductal stenosis or hydrocephalus (HSAS; 307000) is an allelic disorder.
Description
The hereditary spast... | MASA SYNDROME | c0795953 | 6,711 | omim | https://www.omim.org/entry/303350 | 2019-09-22T16:18:31 | {"doid": ["0060246"], "mesh": ["C536029"], "omim": ["303350"], "orphanet": ["2466", "275543"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS", "SPASTIC PARAPLEGIA 1, X-LINKED", "CLASPED THUMB AND MENTAL RETARDATION", "THUMB, CONGENITAL CLASPED, WITH MENTAL RETARDAT... |
Single transverse palmar crease
Other namesSimian crease, simian line
Single transverse palmar crease on an infant's hand
SpecialtyMedical genetics
In humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases (known... | Single transverse palmar crease | c0424731 | 6,712 | wikipedia | https://en.wikipedia.org/wiki/Single_transverse_palmar_crease | 2021-01-18T18:38:33 | {"icd-9": ["757.2"], "wikidata": ["Q1934946"]} |
49,XXXXY syndrome is a type of chromosome abnormality characterized by the presence of 3 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe. Signs and symptoms of 49,XXXXY syndrome can vary but may i... | 49, XXXXY syndrome | c0265499 | 6,713 | gard | https://rarediseases.info.nih.gov/diseases/5679/49-xxxxy-syndrome | 2021-01-18T17:58:42 | {"mesh": ["D007713"], "orphanet": ["96264"], "synonyms": ["XXXXY syndrome", "49,XXXXY"]} |
## Description
Synesthesia is broadly defined as the experience of involuntary sensory crossactivation in which the presentation of a particular stimulus elicits a secondary sensory-perceptual experience (Barnett et al., 2008). Although this phenomenon can be acquired or transient due to trauma or drugs, there is a... | SYNESTHESIA | c0233778 | 6,714 | omim | https://www.omim.org/entry/612759 | 2019-09-22T16:00:40 | {"mesh": ["C562460"], "omim": ["612759"], "synonyms": ["Alternative titles", "SYNSTH"]} |
Monosomy 9p
Other names9p deletion syndrome
SpecialtyMedical genetics
Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of chromosome 9. Symptoms include microgenitalia, intellectual disability with microcephaly and dys... | Monosomy 9p | c0795830 | 6,715 | wikipedia | https://en.wikipedia.org/wiki/Monosomy_9p | 2021-01-18T18:51:07 | {"mesh": ["C538024"], "umls": ["C0265425", "C0795830"], "orphanet": ["261112"], "wikidata": ["Q3321253"]} |
A number sign (#) is used with this entry because of evidence that telomere-related pulmonary fibrosis and/or bone marrow failure-4 (PFBMFT4) is caused by heterozygous mutation in the PARN gene (604212) on chromosome 16p13.
For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or b... | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 | c0085786 | 6,716 | omim | https://www.omim.org/entry/616371 | 2019-09-22T15:49:03 | {"mesh": ["D011658"], "omim": ["616371"], "orphanet": ["2032"]} |
Overview about the lesions of visual pathways
Visual pathway lesions
Visual pathway lesions
From top to bottom:
1\. Complete loss of vision in the right eye
2\. Bitemporal hemianopia
3\. Homonymous hemianopia
4\. Quadrantanopia
5.& 6\. Quadrantanopia with macular sparing
SpecialtyOphthalmology, Neuro... | Visual pathway lesions | None | 6,717 | wikipedia | https://en.wikipedia.org/wiki/Visual_pathway_lesions | 2021-01-18T18:27:59 | {"wikidata": ["Q96414061"]} |
Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.
*[v]: View this template
*[t]: Discuss this template
*[e]:... | Hepatocellular carcinoma | c2239176 | 6,718 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88673 | 2021-01-23T18:30:28 | {"mesh": ["D006528"], "omim": ["114550"], "umls": ["C2239176"], "icd-10": ["C22.0"], "synonyms": ["HCC"]} |
Candida hypersensitivity
systemic candidiasis, chronic candidiasis
Pseudomedical diagnosis
RisksNocebo
This article is part of a series on
Alternative medicine
General information
* Alternative medicine
* Alternative veterinary medicine
* Quackery (Health fraud)
* History of alternative medici... | Candida hypersensitivity | None | 6,719 | wikipedia | https://en.wikipedia.org/wiki/Candida_hypersensitivity | 2021-01-18T18:30:20 | {"wikidata": ["Q2570534"]} |
Cortisone reductase deficiency
Other namesHSD 11b1 deficiency [1]
11β-hydroxysteroid dehydrogenase type 1
SpecialtyMedical genetics
Cortisone reductase deficiency is caused by dysregulation of the 11β-hydroxysteroid dehydrogenase type 1 enzyme (11β-HSD1), otherwise known as cortisone reductase, a bi-di... | Cortisone reductase deficiency | c1291245 | 6,720 | wikipedia | https://en.wikipedia.org/wiki/Cortisone_reductase_deficiency | 2021-01-18T18:40:55 | {"mesh": ["C536447"], "wikidata": ["Q17084678"]} |
An asynclitic birth or asynclitism refers to the position of a fetus in the uterus such that the head of the baby is presenting first and is tilted to the shoulder,[1] causing the fetal head to no longer be in line with the birth canal (vagina).[2] Asynclitic presentation is significantly different from a shoulde... | Asynclitic birth | None | 6,721 | wikipedia | https://en.wikipedia.org/wiki/Asynclitic_birth | 2021-01-18T19:02:57 | {"wikidata": ["Q2232871"]} |
A number sign (#) is used with this entry because it does not represent an additional gene locus. It contains a list of variant hemoglobins for which the precise gene carrying the mutation is unknown or uncertain.
Inheritance \- Autosomal dominant Heme \- Deficient synthesis of alpha-1 and/or alpha-2 chains (e.g.... | HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN | c1840647 | 6,722 | omim | https://www.omim.org/entry/142309 | 2019-09-22T16:40:19 | {"omim": ["142309"]} |
Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.
Myoclonus is a term used to describe episodes of sudden, involu... | Lafora progressive myoclonus epilepsy | c0751783 | 6,723 | medlineplus | https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy/ | 2021-01-27T08:25:46 | {"gard": ["8214"], "mesh": ["D020192"], "omim": ["254780"], "synonyms": []} |
## Clinical Features
The incisors are hollowed out on their lingual surface, creating a resemblance to a shovel or a sugar scoop. The lateral incisors are more often or more markedly affected than the middle incisors. The trait is particularly frequent in East Asian and Native American populations (Kimura et al., 2... | INCISORS, SHOVEL-SHAPED | c1409763 | 6,724 | omim | https://www.omim.org/entry/147400 | 2019-09-22T16:39:26 | {"omim": ["147400"], "synonyms": ["Alternative titles", "SINODONTY"]} |
Bandemia
SpecialtyHematology
Bandemia refers to an excess or increased levels of band cells (immature white blood cells) released by the bone marrow into the blood. It thus overlaps with the concept of left shift—bandemia is a principal type of left shift and many (perhaps most) clinical mentions of the latter... | Bandemia | c0741439 | 6,725 | wikipedia | https://en.wikipedia.org/wiki/Bandemia | 2021-01-18T18:45:26 | {"umls": ["C0741439"], "icd-9": ["288.66"], "wikidata": ["Q4854514"]} |
Abnormal narrowing of a blood vessel or other tubular organ or structure
Stenosis
Other namesStenoses
CT scan of a bronchial stenosis (arrow) that resulted from tracheobronchial injury
Pronunciation
* /stəˈnoʊsɪs/[1][2]
A stenosis (from Ancient Greek στενός, "narrow") is an abnormal narrowing in ... | Stenosis | c1261287 | 6,726 | wikipedia | https://en.wikipedia.org/wiki/Stenosis | 2021-01-18T19:03:28 | {"mesh": ["D003251"], "wikidata": ["Q2343082"]} |
A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior,... | 2q37 microdeletion syndrome | c2931817 | 6,727 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1001 | 2021-01-23T19:09:33 | {"gard": ["10202"], "mesh": ["C538317"], "omim": ["600430"], "umls": ["C2931817"], "icd-10": ["Q93.5"], "synonyms": ["Albright hereditary osteodystrophy type 3", "Albright hereditary osteodystrophy-like syndrome", "Brachydactyly-intellectual disability syndrome", "Del(2)(q37)", "Deletion 2q37", "Monosomy 2q37qter"]} |
Limb–mammary syndrome
Other namesLMS[1]
SpecialtyMedical genetics
Limb–mammary syndrome is a cutaneous condition characterized by p63 mutations.[2]
## Contents
* 1 See also
* 2 References
* 3 Further reading
* 4 External links
## See also[edit]
* List of cutaneous conditions
## References[edit... | Limb–mammary syndrome | c1863753 | 6,728 | wikipedia | https://en.wikipedia.org/wiki/Limb%E2%80%93mammary_syndrome | 2021-01-18T18:45:49 | {"gard": ["10051"], "mesh": ["C535903"], "umls": ["C1863753"], "icd-10": ["Q82.4"], "orphanet": ["69085"], "wikidata": ["Q6549091"]} |
Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment... | Bradyopsia | c1842073 | 6,729 | medlineplus | https://medlineplus.gov/genetics/condition/bradyopsia/ | 2021-01-27T08:25:05 | {"gard": ["12299"], "mesh": ["C564243"], "omim": ["608415"], "synonyms": []} |
Pre-eclampsia characterized by the presence of seizures
Eclampsia
SpecialtyObstetrics
SymptomsSeizures, high blood pressure[1]
ComplicationsAspiration pneumonia, cerebral hemorrhage, kidney failure, cardiac arrest[1]
Usual onsetAfter 20 weeks of pregnancy[1]
Risk factorsPre-eclampsia[1]
PreventionAspirin... | Eclampsia | c0013537 | 6,730 | wikipedia | https://en.wikipedia.org/wiki/Eclampsia | 2021-01-18T18:36:57 | {"gard": ["6316"], "mesh": ["D004461"], "umls": ["C0013537"], "icd-9": ["642.6"], "wikidata": ["Q552348"]} |
Osteonecrosis of the jaws
Other namesOsteonecrosis of the mandible
Osteonecrosis of the jaw of the upper left jaw in a patient diagnosed with chronic venous insufficiency
SpecialtyRheumatology
Osteonecrosis of the jaw (ONJ) is a severe bone disease (osteonecrosis) that affects the jaws (the maxilla and... | Osteonecrosis of the jaw | c2711248 | 6,731 | wikipedia | https://en.wikipedia.org/wiki/Osteonecrosis_of_the_jaw | 2021-01-18T19:05:19 | {"umls": ["C2711248"], "icd-9": ["733.45"], "orphanet": ["399293"], "wikidata": ["Q2377991"]} |
Maladjustment is a term used in psychology to refer the "inability to react successfully and satisfactorily to the demand of one's environment".[1] The term maladjustment can be refer to a wide range of social, biological and psychological conditions.[2]
Maladjustment can be both intrinsic or extrinsic. Intrinsi... | Maladjustment | c0281902 | 6,732 | wikipedia | https://en.wikipedia.org/wiki/Maladjustment | 2021-01-18T18:45:53 | {"umls": ["C0281902"], "wikidata": ["Q55621848"]} |
A small proportion of humans show partial or apparently complete inborn resistance to HIV, the virus that causes AIDS.[1] The main mechanism is a mutation of the gene encoding CCR5, which acts as a co-receptor for HIV. It is estimated that the proportion of people with some form of resistance to HIV is under 10%.[2][... | Innate resistance to HIV | None | 6,733 | wikipedia | https://en.wikipedia.org/wiki/Innate_resistance_to_HIV | 2021-01-18T18:40:23 | {"wikidata": ["Q19760783"]} |
Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.
## Epidemiology
The prevalence is unknown but it accounts for approximately 3% of gastrointestinal tumors and 10-15% of all hepatobiliary malignancies.
## Cl... | Cholangiocarcinoma | c0206698 | 6,734 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70567 | 2021-01-23T18:53:45 | {"gard": ["9304"], "mesh": ["D018281", "D001650"], "omim": ["615619"], "umls": ["C0206698", "C0740277"], "icd-10": ["C22.1", "C24.0", "C24.8", "C24.9"], "synonyms": ["Bile duct cancer", "CCA"]} |
Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails.
## Epidemiology
Prevalence is unknown. Approximately ten families have been reported to date. However, this varian... | Dominant dystrophic epidermolysis bullosa, nails only | None | 6,735 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158676 | 2021-01-23T18:30:15 | {"icd-10": ["Q81.2"], "synonyms": ["Nails-only DDEB"]} |
Human disease
Histoplasmosis
Other namesCave disease,[1] Darling's disease,[1] Ohio valley disease,[1] Reticuloendotheliosis,[1] Spelunker's lung and Caver's disease
Histoplasma capsulatum. Methenamine silver stain showing histopathologic changes in histoplasmosis
SpecialtyInfectious disease
Histoplasmosi... | Histoplasmosis | c0019655 | 6,736 | wikipedia | https://en.wikipedia.org/wiki/Histoplasmosis | 2021-01-18T18:39:14 | {"mesh": ["D006660"], "umls": ["C0019655", "C0035288"], "icd-9": ["115115"], "icd-10": ["B3939."], "orphanet": ["390"], "wikidata": ["Q627625"]} |
Jamaican vomiting sickness
SpecialtyToxicology
Jamaican vomiting sickness (also known as toxic hypoglycemic syndrome (THS),[1] acute ackee fruit intoxication,[2] or ackee poisoning[1]) is an acute illness caused by the toxins hypoglycin A and hypoglycin B, which are present in fruit of the ackee tree. Whil... | Jamaican vomiting sickness | c0274888 | 6,737 | wikipedia | https://en.wikipedia.org/wiki/Jamaican_vomiting_sickness | 2021-01-18T19:08:28 | {"gard": ["9299"], "mesh": ["C537562"], "umls": ["C0274888"], "icd-10": ["T62.2"], "orphanet": ["73423"], "wikidata": ["Q784988"]} |
Amor et al. (2001) described 2 sisters with onset of progressive cerebellar ataxia at the age of 16 and 32 years, respectively, and secondary amenorrhea due to hypergonadotropic hypogonadism. Sensorineural deafness with vestibular hypofunction and peripheral sensory impairment were also present. Intellect was nor... | CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM | c1859305 | 6,738 | omim | https://www.omim.org/entry/605672 | 2019-09-22T16:11:07 | {"mesh": ["C565870"], "omim": ["605672"], "orphanet": ["1173"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-15B (IMD15B) is caused by homozygous mutation in the IKBKB gene (603258) on chromosome 8p11.
Heterozygous mutation in IKBKB results in IMD15A (618204), a less severe immunodeficiency with later onset.
Description
Immunodeficiency-1... | IMMUNODEFICIENCY 15B | c3810043 | 6,739 | omim | https://www.omim.org/entry/615592 | 2019-09-22T15:51:33 | {"omim": ["615592"], "orphanet": ["397787"], "synonyms": ["SCID due to IKK2 deficiency"]} |
Megaduodenum
Other namesHereditary hollow visceral myopathy
SpecialtyGastroenterology
Megaduodenum is a congenital or acquired dilation and elongation of the duodenum with hypertrophy of all layers that presents as a feeling of gastric fullness, abdominal pain, belching, heartburn, and nausea with vomiting s... | Megaduodenum | c0266177 | 6,740 | wikipedia | https://en.wikipedia.org/wiki/Megaduodenum | 2021-01-18T19:00:34 | {"mesh": ["C536139"], "umls": ["C0266177"], "wikidata": ["Q15056772"]} |
Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also... | Costello syndrome | c0587248 | 6,741 | gard | https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome | 2021-01-18T18:01:04 | {"mesh": ["D056685"], "omim": ["218040"], "umls": ["C0587248"], "orphanet": ["3071"], "synonyms": ["Faciocutaneoskeletal syndrome", "FCS syndrome"]} |
Cutler et al. (1978) described brother and sister with renal, neurologic, and thyroid disease. Both had thrombocytopenia. Mentality was normal. The girl presented at age 1 year with chronic renal disease. She died at age 10. The brother presented at age 3 with renal disease. At 13 years of age, he became increasingly... | THYROCEREBRORETINAL SYNDROME | c1848813 | 6,742 | omim | https://www.omim.org/entry/274240 | 2019-09-22T16:21:42 | {"mesh": ["C536908"], "omim": ["274240"], "orphanet": ["3327"]} |
Bosma et al. (1967) studied a condition in which, because of sensory problem in the mouth, the patient remains infantile in oral configuration and function. The 'labial gate' remains infantile with drooling, and nipple (suckle) feeding only is practiced, even in the adult. One expects the labial gate function to deve... | ORAL SENSIBILITY, DISTURBANCE OF | c1850269 | 6,743 | omim | https://www.omim.org/entry/258800 | 2019-09-22T16:24:05 | {"omim": ["258800"]} |
Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp.,... | Dracunculiasis | c0013100 | 6,744 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231 | 2021-01-23T17:53:52 | {"gard": ["6286"], "mesh": ["D004320"], "umls": ["C0013100"], "icd-10": ["B72"], "synonyms": ["Dracunculosis", "Guinea worm disease", "Medina worm disease", "Medinensis"]} |
Tetrahydrobiopterin (BH4) deficiency causes the body to build up an abnormally high level of phenylalanine, one of the building blocks of proteins. In addition, BH4 deficiency leads to low levels of certain neurotransmitters, chemical messengers that control many body functions. Symptoms can range from very mild to s... | Tetrahydrobiopterin deficiency | c0751436 | 6,745 | gard | https://rarediseases.info.nih.gov/diseases/7751/tetrahydrobiopterin-deficiency | 2021-01-18T17:57:23 | {"mesh": ["D010661"], "orphanet": ["238583"], "synonyms": ["BH4 deficiency", "Hyperphenylalaninemia caused by a defect in biopterin metabolism", "Hyperphenylalaninemia, non-phenylketonuric", "Non-phenylketonuric hyperphenylalaninemia", "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency", "Hyperphenylalaninemi... |
## Summary
### Clinical characteristics.
Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities) to mild CCD to isolated dental... | Cleidocranial Dysplasia Spectrum Disorder | c0008928 | 6,746 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1513/ | 2021-01-18T21:34:39 | {"mesh": ["D002973"], "synonyms": ["Cleidocranial Dysostosis"]} |
Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in ... | Propionic acidemia | c0268579 | 6,747 | medlineplus | https://medlineplus.gov/genetics/condition/propionic-acidemia/ | 2021-01-27T08:25:06 | {"gard": ["467"], "mesh": ["D056693"], "omim": ["606054"], "synonyms": []} |
Aversion to happiness
Other namesCherophobia
SpecialtyPsychology
Aversion to happiness, also called cherophobia and fear of happiness, is an attitude towards happiness in which individuals may deliberately avoid experiences that invoke positive emotions or happiness.[1][2][3]
One of several reasons why cher... | Aversion to happiness | None | 6,748 | wikipedia | https://en.wikipedia.org/wiki/Aversion_to_happiness | 2021-01-18T18:38:23 | {"wikidata": ["Q18209757"]} |
Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.
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*[t]: Dis... | Chronic Epstein-Barr virus infection syndrome | c4016741 | 6,749 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2566 | 2021-01-23T19:00:59 | {"gard": ["9534"], "omim": ["226990"], "icd-10": ["B27.0"], "synonyms": ["CAEBV syndrome", "Chronic EBV infection syndrome"]} |
A rare ophthalmic disorder characterized by intraocular inflammation with the anterior chamber as the predominant site of inflammation, without any identifiable etiology. Presenting symptoms are pain, redness, photophobia, and sometimes blurred vision. Signs on examination include anterior chamber cell and flare, lim... | Idiopathic anterior uveitis | c0339315 | 6,750 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280914 | 2021-01-23T18:25:37 | {"umls": ["C0339315"], "icd-10": ["H20.0", "H20.1", "H20.2", "H20.8", "H20.9"]} |
A number sign (#) is used with this entry because 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), also referred to as 3-methylglutaconic aciduria type VI (MGCA6), is caused by homozygous or compound heterozygous mutation in the SERAC1 gene (614725) on chromosome 6q25.
Des... | 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME | c3553597 | 6,751 | omim | https://www.omim.org/entry/614739 | 2019-09-22T15:54:22 | {"doid": ["0110001"], "omim": ["614739"], "orphanet": ["352328"], "synonyms": ["3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome", "Alternative titles", "3-METHYLGLUTACONIC ACIDURIA, TYPE VI", "3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SY... |
A type of arthritis in which there is long term inflammation of the joints of the spine
Ankylosing spondylitis
Other namesBekhterev's disease, Bechterew's disease, morbus Bechterew, Bekhterev–Strümpell–Marie disease, Marie's disease, Marie–Strümpell arthritis, Pierre–Marie's disease[1]
A 6th-century skeleton sho... | Ankylosing spondylitis | c0038013 | 6,752 | wikipedia | https://en.wikipedia.org/wiki/Ankylosing_spondylitis | 2021-01-18T19:02:07 | {"gard": ["9518"], "mesh": ["D013167"], "umls": ["C0038013"], "orphanet": ["825"], "wikidata": ["Q52849"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Intraretinal microvascular abnormalities" – news · newspapers · books · scholar · JSTOR (February 2018) (Learn how and when to remove... | Intraretinal microvascular abnormalities | c0154836 | 6,753 | wikipedia | https://en.wikipedia.org/wiki/Intraretinal_microvascular_abnormalities | 2021-01-18T18:36:13 | {"umls": ["C0154836"], "icd-9": ["362.17"], "orphanet": ["71213"], "wikidata": ["Q6058536"]} |
A number sign (#) is used with this entry because glycogen storage disease X (GSD10) is caused by homozygous or compound heterozygous mutation in the PGAM2 gene (612931), which encodes muscle phosphoglycerate mutase, on chromosome 7p13.
Clinical Features
DiMauro et al. (1981) studied a 52-year-old who had onset... | GLYCOGEN STORAGE DISEASE X | c0268149 | 6,754 | omim | https://www.omim.org/entry/261670 | 2019-09-22T16:23:30 | {"mesh": ["C536176"], "omim": ["261670"], "orphanet": ["97234"], "synonyms": ["Alternative titles", "GSD X", "PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF", "MYOPATHY DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY", "PGAMM DEFICIENCY"]} |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse ey... | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | c4310801 | 6,755 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=459061 | 2021-01-23T16:52:33 | {"omim": ["616901"], "synonyms": ["Developmental delay-short stature-dysmorphic features-sparse hair syndrome", "Loucks-Innes syndrome"]} |
A number sign (#) is used with this entry because of evidence that the variant form of Vohwinkel syndrome, mutilating keratoderma with ichthyosis, is caused by heterozygous mutation in the gene encoding loricrin (152445), a component of the epidermal differentiation complex (EDC), on chromosome 1q21.
Classic Vohwink... | VOHWINKEL SYNDROME, VARIANT FORM | c1858805 | 6,756 | omim | https://www.omim.org/entry/604117 | 2019-09-22T16:12:28 | {"mesh": ["C565826"], "omim": ["604117"], "orphanet": ["79395"], "synonyms": ["Alternative titles", "VOHWINKEL SYNDROME WITH ICHTHYOSIS", "MUTILATING KERATODERMA WITH ICHTHYOSIS", "LORICRIN KERATODERMA"]} |
A number sign (#) is used with this entry because of evidence that oculocutaneous albinism-3 is caused by homozygous or compound heterozygous mutation in tyrosinase-related protein-1 (TYRP1; 115501) on chromosome 9p23.
For a discussion of genetic heterogeneity of OCA, see OCA1A (203100).
Nomenclature
This form of ... | ALBINISM, OCULOCUTANEOUS, TYPE III | c0342683 | 6,757 | omim | https://www.omim.org/entry/203290 | 2019-09-22T16:31:19 | {"doid": ["0070097"], "mesh": ["C537189"], "omim": ["203290"], "orphanet": ["79433"], "synonyms": ["Alternative titles", "OCULOCUTANEOUS ALBINISM, TYPE III", "ALBINISM III", "RUFOUS OCULOCUTANEOUS ALBINISM", "XANTHISM"]} |
A number sign (#) is used with this entry because of evidence that pituitary adenoma-4 (PITA4) is caused by somatic mutation in the USP8 gene (603158) on chromosome 15q21.
Description
Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or ... | PITUITARY ADENOMA 4, ACTH-SECRETING | c0010481 | 6,758 | omim | https://www.omim.org/entry/219090 | 2019-09-22T16:29:13 | {"doid": ["7004"], "mesh": ["D003480"], "omim": ["219090"], "icd-10": ["E24.0"], "orphanet": ["96253"], "synonyms": ["Alternative titles", "CUSHING DISEASE, PITUITARY"], "genereviews": ["NBK97965"]} |
A rare disease characterized by malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukaemia.
## Epidemiology
About 3,000 children in the United States and 5,000 children in Europe are diagnosed with ALL per year.
## Clinical descri... | Acute lymphoblastic leukemia | c0023449 | 6,759 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=513 | 2021-01-23T18:37:00 | {"gard": ["522"], "omim": ["247640", "613065", "613067"], "umls": ["C0023449"], "icd-10": ["C91.0"], "synonyms": ["ALL", "Acute lymphoblastic leukemia/lymphoma", "Acute lymphocytic leukemia", "Precursor lymphoid neoplasm"]} |
Patterson syndrome
Other namesPseudoleprechaunism syndrome, Patterson type
Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue Syndrome (also known as Leprechaunism).
It is named for Dr. Joseph Hanan Patterson.[1] It was described by Patterson and Watk... | Patterson syndrome | c1868546 | 6,760 | wikipedia | https://en.wikipedia.org/wiki/Patterson_syndrome | 2021-01-18T18:36:18 | {"gard": ["4259"], "mesh": ["C536310"], "umls": ["C1868546"], "orphanet": ["2976"], "wikidata": ["Q7148484"]} |
Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a pro... | Familial Alzheimer-like prion disease | c4303482 | 6,761 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280397 | 2021-01-23T19:04:49 | {"icd-10": ["A81.8"]} |
A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short h... | Diffuse intrinsic pontine glioma | c2986658 | 6,762 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=497188 | 2021-01-23T18:38:40 | {"synonyms": ["DIPG"]} |
A number sign (#) is used with this entry because of evidence that intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) is caused by heterozygous mutation in the CDKN1C gene (600856) on chromosome 11p15.
A recessive form of IMAGE with immunodeficiency (I... | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES | c1846009 | 6,763 | omim | https://www.omim.org/entry/614732 | 2019-09-22T15:54:22 | {"doid": ["0050885"], "mesh": ["C564543"], "omim": ["614732"], "orphanet": ["85173"], "synonyms": ["Alternative titles", "IMAGE SYNDROME"], "genereviews": ["NBK190103"]} |
## Description
Hereditary benign intraepithelial dyskeratosis (HBID) is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes. The bulbar conjunctiva is involved, especially in the nasal and temporal perilimbal region. Dilated superficial vessels in association with the ... | DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL | c0265966 | 6,764 | omim | https://www.omim.org/entry/127600 | 2019-09-22T16:42:04 | {"mesh": ["C562551"], "omim": ["127600"], "orphanet": ["352657"], "synonyms": ["Alternative titles", "DKBI"]} |
A clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).
## Epidemiology
Prevalence and annual incidence are not known. AS... | Antisynthetase syndrome | c2609059 | 6,765 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=81 | 2021-01-23T17:29:37 | {"gard": ["735"], "mesh": ["C537778"], "umls": ["C2609059"], "icd-10": ["M35.8"], "synonyms": ["AS syndrome", "Anti-Jo1 syndrome"]} |
## Clinical Features
Flex et al. (2003) reported a 3-generation Italian family in which 15 members were affected with autosomal dominant nonsyndromic sensorineural deafness. The hearing loss, which was bilateral and symmetrical, began in the second decade of life, progressing from moderate to profound loss and ulti... | DEAFNESS, AUTOSOMAL DOMINANT 43 | c1842108 | 6,766 | omim | https://www.omim.org/entry/608394 | 2019-09-22T16:07:52 | {"doid": ["0110568"], "mesh": ["C564246"], "omim": ["608394"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolate... |
## Summary
### Clinical characteristics.
HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. HEX A is necessary for degr... | HEXA Disorders | None | 6,767 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1218/ | 2021-01-18T21:22:23 | {"synonyms": ["Beta-Hexosaminidase A Deficiency; GM2 Gangliosidosis", "Type I; Tay-Sachs Disease"]} |
Hutchinson's mask is a patient's sensation that the face is covered with a mask or a gauzy network like cobwebs. This medical sign is associated with tabes dorsalis[1] affecting the trigeminal nerve (fifth cranial nerve CN V). It is named in honour of the English physician Sir Jonathan Hutchinson (1828–1913).
> Subj... | Hutchinson's mask | c0686769 | 6,768 | wikipedia | https://en.wikipedia.org/wiki/Hutchinson%27s_mask | 2021-01-18T18:52:02 | {"wikidata": ["Q28403848"]} |
A number sign (#) is used with this entry because glycogen storage disease VI (GSD6) is caused by homozygous or compound heterozygous mutation in the PYGL gene (613741), which encodes liver glycogen phosphorylase, on chromosome 14.
Clinical Features
The clinical picture in glycogen storage disease VI is one of mild... | GLYCOGEN STORAGE DISEASE VI | c0017925 | 6,769 | omim | https://www.omim.org/entry/232700 | 2019-09-22T16:27:25 | {"doid": ["2754"], "mesh": ["D006013"], "omim": ["232700"], "icd-10": ["E74.09"], "orphanet": ["369"], "synonyms": ["Alternative titles", "GSD VI", "HERS DISEASE", "PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER"], "genereviews": ["NBK5941"]} |
A number sign (#) is used with this entry because of evidence that long QT syndrome-15 (LQT15) is caused by heterozygous mutation in the CALM2 gene (114182) on chromosome 2p21.
For a general phenotypic description and discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).
Clinical Features
Cro... | LONG QT SYNDROME 15 | c1141890 | 6,770 | omim | https://www.omim.org/entry/616249 | 2019-09-22T15:49:28 | {"doid": ["0110656"], "omim": ["616249"], "orphanet": ["768", "101016"], "genereviews": ["NBK1129"]} |
Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of... | Synovial Chondromatosis | c0008476 | 6,771 | gard | https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis | 2021-01-18T17:57:27 | {"mesh": ["D015838"], "umls": ["C0008476"], "synonyms": ["Synovial osteochondromatosis"]} |
2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.
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*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
... | 2,4-Dienoyl-CoA reductase deficiency | c1857252 | 6,772 | gard | https://rarediseases.info.nih.gov/diseases/10327/24-dienoyl-coa-reductase-deficiency | 2021-01-18T18:02:26 | {"mesh": ["C565624"], "omim": ["222745"], "umls": ["C1857252"], "orphanet": ["42641"], "synonyms": ["Dienoyl-CoA reductase deficiency", "2,4-alpha dienoyl-CoA reductase deficiency"]} |
This article is about the thalidomide scandal and birth defect crisis. For the drug, see thalidomide.
Phocomelia
Cases of severe thalidomide-induced phocomelia.
Baby born to a mother who had taken thalidomide while pregnant
In the late 1950s and early 1960s, the use of thalidomide in pregnant women in 46 cou... | Thalidomide scandal | c0432365 | 6,773 | wikipedia | https://en.wikipedia.org/wiki/Thalidomide_scandal | 2021-01-18T18:41:09 | {"gard": ["2313"], "umls": ["C0432365"], "orphanet": ["3312"], "wikidata": ["Q875992"]} |
Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory ... | Choanal atresia, bilateral | None | 6,774 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137920 | 2021-01-23T18:01:02 | {"icd-10": ["Q30.0"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-46 (RP46) is caused by homozygous mutation in the isocitrate dehydrogenase 3B gene (IDH3B; 604526) on chromosome 20p13.
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
... | RETINITIS PIGMENTOSA 46 | c0035334 | 6,775 | omim | https://www.omim.org/entry/612572 | 2019-09-22T16:01:09 | {"doid": ["0110409"], "mesh": ["D012174"], "omim": ["612572"], "orphanet": ["791"], "synonyms": ["Alternative titles", "RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE, IDH3B-RELATED"], "genereviews": ["NBK1417"]} |
Paroxysmal hand hematoma
Other namesAchenbach syndrome
Paroxysmal hand hematoma Achenbach syndrome; it appears often on the internal surface of the finger and rather under the middle finger or forefinger at the joints of the first or second phalanx.
SpecialtyDermatology
SymptomsAchenbach's is of unknown etiol... | Paroxysmal hand hematoma | c0473563 | 6,776 | wikipedia | https://en.wikipedia.org/wiki/Paroxysmal_hand_hematoma | 2021-01-18T18:51:18 | {"umls": ["C0473563"], "wikidata": ["Q1728132"]} |
A rare biliary tract disease characterized by external compression and subsequent obstruction of an extrahepatic biliary duct by one or more gallstones in the cystic duct or the gallbladder. Patients may present with acute or chronic cholecystitis with right upper abdominal pain, nausea, and vomiting, jaundice, o... | Mirizzi syndrome | c0267878 | 6,777 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=521219 | 2021-01-23T18:28:11 | {"mesh": ["D057792"], "synonyms": ["Extrinsic biliary compression syndrome"]} |
Glassy cell carcinoma of the cervix
Other namesGlassy cell carcinoma
Micrograph of a glassy cell carcinoma of the cervix. H&E stain.
SpecialtyOncology
Glassy cell carcinoma of the cervix, also glassy cell carcinoma, is a rare aggressive malignant tumour of the uterine cervix.[1] The tumour gets its name fr... | Glassy cell carcinoma of the cervix | c2012072 | 6,778 | wikipedia | https://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix | 2021-01-18T19:02:08 | {"gard": ["8437"], "mesh": ["C536823"], "icd-10": ["C53"], "orphanet": ["213833"], "synonyms": [], "wikidata": ["Q5567200"]} |
Paraneoplastic syndrome
POEMS syndrome
Other namesCrow–Fukase syndrome
SpecialtyOncology
POEMS syndrome (also termed osteosclerotic myeloma, Crow–Fukase syndrome, Takatsuki disease, or PEP syndrome) is a rare paraneoplastic syndrome caused by a clone of aberrant plasma cells. The name POEMS is an acrony... | POEMS syndrome | c3898068 | 6,779 | wikipedia | https://en.wikipedia.org/wiki/POEMS_syndrome | 2021-01-18T19:01:35 | {"gard": ["7411"], "mesh": ["D016878"], "umls": ["C3898068"], "icd-9": ["273.8"], "icd-10": ["D47.7"], "orphanet": ["2627", "2905"], "wikidata": ["Q2553422"]} |
Nausea caused by exposure to a VR environment
Virtual reality sickness occurs when exposure to a virtual environment causes symptoms that are similar to motion sickness symptoms.[1] The most common symptoms are general discomfort, headache, stomach awareness, nausea, vomiting, pallor, sweating, fatigue, drowsine... | Virtual reality sickness | None | 6,780 | wikipedia | https://en.wikipedia.org/wiki/Virtual_reality_sickness | 2021-01-18T18:29:00 | {"wikidata": ["Q4219957"]} |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-29 (SPGF29) is caused by homozygous mutation in the SPINK2 gene (605753) on chromosome 4q12. One such family has been reported.
Description
Spermatogenic failure-29 is characterized by nonobstructive azoospermia or oligozoo... | SPERMATOGENIC FAILURE 29 | None | 6,781 | omim | https://www.omim.org/entry/618091 | 2019-09-22T15:43:39 | {"omim": ["618091"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Ectopia" medicine – news · newspapers · books · scholar · JSTOR (May 2019) (Learn how and when to remove this template message)
An e... | Ectopia (medicine) | None | 6,782 | wikipedia | https://en.wikipedia.org/wiki/Ectopia_(medicine) | 2021-01-18T18:32:58 | {"wikidata": ["Q10480798"]} |
Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condi... | Meier-Gorlin syndrome | c4552001 | 6,783 | medlineplus | https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/ | 2021-01-27T08:25:54 | {"gard": ["2033"], "omim": ["224690", "613800", "613803", "613804", "613805"], "synonyms": []} |
Deficit of micronutrients, vine.
Physiological plant disorders are caused by non-pathological conditions such as poor light, adverse weather, water-logging, phytotoxic compounds or a lack of nutrients, and affect the functioning of the plant system. Physiological disorders are distinguished from plant diseases cause... | Physiological plant disorder | None | 6,784 | wikipedia | https://en.wikipedia.org/wiki/Physiological_plant_disorder | 2021-01-18T18:52:53 | {"wikidata": ["Q8294850"]} |
Konigsmark et al. (1970) described congenital moderate neural hearing loss in 3 sibships with apparent recessive inheritance. They concluded that this type had not been described previously.
Inheritance \- Autosomal recessive Ears \- Neural hearing loss \- Congenital hearing loss ▲ Close
*[v]: View this te... | DEAFNESS, NEURAL, CONGENITAL MODERATE | c1857337 | 6,785 | omim | https://www.omim.org/entry/221500 | 2019-09-22T16:28:54 | {"mesh": ["C565640"], "omim": ["221500"]} |
Scrotodynia
SpecialtyDermatology
Scrotodynia is a condition characterized by dysesthesia of the scrotum.[1]
## See also[edit]
* Vulvodynia
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mos... | Scrotodynia | None | 6,786 | wikipedia | https://en.wikipedia.org/wiki/Scrotodynia | 2021-01-18T18:40:41 | {"wikidata": ["Q7439312"]} |
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
## Epidemiology
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome (ADCA-DN) has been reported in more tha... | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | c3807295 | 6,787 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314404 | 2021-01-23T18:26:39 | {"gard": ["12372"], "omim": ["604121"], "icd-10": ["G11.0"], "synonyms": ["ADCA-DN syndrome", "Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome"]} |
Melanosis
SpecialtyDermatology
Melanosis is a form of hyperpigmentation associated with increased melanin.[1]
It can also refer to:
* Melanism
* Ocular melanosis
* Smoker's melanosis
* Oral melanosis
* Riehl melanosis
## See also[edit]
Look up melanosis in Wiktionary, the free dictionary.
... | Melanosis | c0016689 | 6,788 | wikipedia | https://en.wikipedia.org/wiki/Melanosis | 2021-01-18T18:49:33 | {"mesh": ["D008548"], "wikidata": ["Q6811539"]} |
## Summary
### Clinical characteristics.
Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Add... | Trichohepatoenteric Syndrome | c1857276 | 6,789 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK475802/ | 2021-01-18T20:52:12 | {"mesh": ["C565627"], "synonyms": ["Phenotypic Diarrhea of Infancy", "Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome (SD/THE)", "THES"]} |
Play media
Alcohol and health (two minute video)
Alcohol (also known as ethanol) has a number of effects on health. Short-term effects of alcohol consumption include intoxication and dehydration. Long-term effects of alcohol consumption include changes in the metabolism of the liver and brain and alcoholism. Alcoho... | Alcohol and health | c0236970 | 6,790 | wikipedia | https://en.wikipedia.org/wiki/Alcohol_and_health | 2021-01-18T18:44:58 | {"mesh": ["D020751"], "icd-10": ["F10"], "wikidata": ["Q11290178"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (July 2016)
This scientific article needs additional citations to secondary or tertiary sources such as review articles, monographs, or textbooks. Ple... | Compulsive decluttering | None | 6,791 | wikipedia | https://en.wikipedia.org/wiki/Compulsive_decluttering | 2021-01-18T18:43:00 | {"wikidata": ["Q25338549"]} |
Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine pa... | Infective dermatitis associated with HTLV-1 | None | 6,792 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289347 | 2021-01-23T18:25:24 | {"icd-10": ["L30.3"], "synonyms": ["IDH", "Infective dermatitis associated with human T-lymphotropic virus type 1", "Infective dermatitis associated with human T-lymphotropic virus type I"]} |
Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this con... | Trichorhinophalangeal syndrome type 1 | c0432233 | 6,793 | gard | https://rarediseases.info.nih.gov/diseases/7800/trichorhinophalangeal-syndrome-type-1 | 2021-01-18T17:57:18 | {"mesh": ["C536820"], "omim": ["190350"], "umls": ["C0432233"], "orphanet": ["77258"], "synonyms": ["TRPS1", "Giedion syndrome"]} |
Malignant edema (or malignant oedema[1]) is an acute, generally rapidly fatal wound infection (toxemia) most common in grazing animals. It affects cattle, horses, sheep, goats, pigs, and deer. It is caused by one or more species of bacteria in the genus Clostridium.[2][3]
"A similar infection in humans is not uncomm... | Malignant edema | c0017105 | 6,794 | wikipedia | https://en.wikipedia.org/wiki/Malignant_edema | 2021-01-18T19:08:44 | {"mesh": ["D005738"], "wikidata": ["Q6743505"]} |
A number sign (#) is used with this entry because mitochondrial DNA depletion syndrome-3 (MTDPS3) is caused by homozygous or compound heterozygous mutation in the DGUOK gene (601465) on chromosome 2p13.
Biallelic mutation in the DGUOK gene can also cause adult-onset PEOB4 (617070).
Description
Mitochondrial DN... | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | c3151513 | 6,795 | omim | https://www.omim.org/entry/251880 | 2019-09-22T16:25:05 | {"doid": ["0080121"], "omim": ["251880"], "orphanet": ["279934"], "synonyms": [], "genereviews": ["NBK7040", "NBK487393"]} |
A rare disorder characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease.
## Epidemiology
Exact incidence is unknown as there are many potential causes.
## Clinical description
The age of onset, signs and symptoms, severity and clinical course (monophasic or... | Secondary acute transverse myelitis | None | 6,796 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139420 | 2021-01-23T18:31:19 | {"icd-10": ["G37.3"], "synonyms": ["Disease-associated transverse myelitis"]} |
Flat-chested kitten syndrome (FCKS) is a disorder in cats wherein kittens develop a compression of the thorax (chest/ribcage) caused by lung collapse. This is a soft-tissue problem and is not caused by vertebral or bony malformation. However lung collapse can be a secondary symptom caused by bony deformity affecting ... | Flat-chested kitten syndrome | None | 6,797 | wikipedia | https://en.wikipedia.org/wiki/Flat-chested_kitten_syndrome | 2021-01-18T18:57:45 | {"wikidata": ["Q5457689"]} |
A number sign (#) is used with this entry because some patients with benign hereditary chorea (BHC or BCH) have mutations in the NKX2-1 gene (600635) encoding thyroid transcription factor-1 (TITF1).
See also choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), an allelic disorder w... | CHOREA, BENIGN HEREDITARY | c0393584 | 6,798 | omim | https://www.omim.org/entry/118700 | 2019-09-22T16:43:21 | {"doid": ["12859"], "mesh": ["D002819"], "omim": ["118700"], "orphanet": ["1429"], "synonyms": ["Alternative titles", "BCH", "HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA"], "genereviews": ["NBK185066"]} |
Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.
## Epidemiology
Fewer than 150 cases have been reported in the literature to date.
## Clinical description
DPL manifests during adulthood and is pre... | Disseminated peritoneal leiomyomatosis | c0267785 | 6,799 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71274 | 2021-01-23T18:35:50 | {"gard": ["12843"], "icd-10": ["D20.1"], "synonyms": ["DPL", "Diffuse peritoneal leiomyomatosis", "LPD", "Leiomyomatosis peritonealis disseminate"]} |
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