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A number sign (#) is used with this entry because of evidence that distal hereditary motor neuronopathy type IX (HMN9) is caused by heterozygous mutation in the WARS gene (WARS1; 191050) on chromosome 14q32.
Description
HMN9 is an autosomal dominant neurologic disorder characterized by juvenile onset of slowly ... | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX | c4540265 | 600 | omim | https://www.omim.org/entry/617721 | 2019-09-22T15:45:00 | {"omim": ["617721"], "synonyms": ["Alternative titles", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX"]} |
## Clinical Features
Van Steensel et al. (2002) reported a mother and daughter with a syndrome of hypotrichosis, striate palmoplantar keratoderma, onychogryphosis, periodontitis, acroosteolysis, and psoriasis-like skin lesions. The syndrome resembled Papillon-Lefevre syndrome (245000), characterized by palmoplantar... | HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME | c1843285 | 601 | omim | https://www.omim.org/entry/607658 | 2019-09-22T16:08:58 | {"mesh": ["C564357"], "omim": ["607658"], "orphanet": ["307936"], "synonyms": ["Alternative titles", "HOPP SYNDROME"]} |
An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.
## Epidemiology
DSRCT is extrem... | Desmoplastic small round cell tumor | c0281508 | 602 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83469 | 2021-01-23T18:44:38 | {"gard": ["6265"], "mesh": ["D058405"], "umls": ["C0281508"], "icd-10": ["C48.2"], "synonyms": ["DSRCT"]} |
Gastric volvulus
Other namesVolvulus of stomach
SpecialtyGeneral surgery
Gastric volvulus or volvulus of stomach is a twisting of all or part of the stomach by more than 180 degrees with obstruction of the flow of material through the stomach, variable loss of blood supply and possible tissue death. The twis... | Gastric volvulus | c0038359 | 603 | wikipedia | https://en.wikipedia.org/wiki/Gastric_volvulus | 2021-01-18T18:40:29 | {"mesh": ["D013277"], "icd-9": ["537.89"], "icd-10": ["K31.8"], "wikidata": ["Q5526795"]} |
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with system... | Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | c3151209 | 604 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363694 | 2021-01-23T17:24:09 | {"omim": ["613845"], "icd-10": ["N15.8"], "synonyms": ["HUPRA syndrome"]} |
Rare X-linked dominant genetic disorder
Not to be confused with Incontinentia pigmenti achromians.
Incontinentia pigmenti
Other namesBloch–Siemens syndrome, Bloch–Sulzberger disease, Bloch–Sulzberger syndrome, nelanoblastosis cutis, nevus pigmentosus systematicus[1]
This condition is inherited in an X-linked do... | Incontinentia pigmenti | c0021171 | 605 | wikipedia | https://en.wikipedia.org/wiki/Incontinentia_pigmenti | 2021-01-18T18:38:43 | {"gard": ["6778"], "mesh": ["D007184"], "umls": ["C0021171"], "icd-9": ["757.33"], "orphanet": ["464"], "wikidata": ["Q884590"]} |
Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II.
People with hyperprolinemia type I oft... | Hyperprolinemia | c0268529 | 606 | medlineplus | https://medlineplus.gov/genetics/condition/hyperprolinemia/ | 2021-01-27T08:24:37 | {"gard": ["6710"], "omim": ["239500", "239510"], "synonyms": []} |
Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lacta... | Stimmler syndrome | c1859965 | 607 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3199 | 2021-01-23T16:56:17 | {"gard": ["5026"], "mesh": ["C565968"], "omim": ["202900"]} |
Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people de... | Biotin-thiamine-responsive basal ganglia disease | c1843807 | 608 | gard | https://rarediseases.info.nih.gov/diseases/10237/biotin-thiamine-responsive-basal-ganglia-disease | 2021-01-18T18:01:47 | {"mesh": ["C537658"], "omim": ["607483"], "umls": ["C1843807"], "orphanet": ["65284"], "synonyms": ["Biotin-responsive basal ganglia disease", "BBGD"]} |
For the band, see Downy Mildew (band).
Downy mildew
Example of downy mildew (left) along with powdery mildew on a grape leaf
Causal agentsoomycetes
Hostsplants
Downy mildew refers to any of several types of oomycete microbes that are obligate parasites of plants. Downy mildews exclusively belong to ... | Downy mildew | None | 609 | wikipedia | https://en.wikipedia.org/wiki/Downy_mildew | 2021-01-18T18:56:01 | {"wikidata": ["Q1394849"]} |
Venous ulcer
Other namesVenous insufficiency ulceration, stasis ulcer, stasis dermatitis, varicose ulcer, ulcus cruris, crural ulceration
Venous ulcer on the back of the right leg.
SpecialtyDermatology
Venous ulcers are wounds that are thought to occur due to improper functioning of venous valves, usua... | Venous ulcer | c0042344 | 610 | wikipedia | https://en.wikipedia.org/wiki/Venous_ulcer | 2021-01-18T18:57:53 | {"mesh": ["D014647"], "icd-9": ["454.0"], "icd-10": ["I83.2", "I83.0"], "wikidata": ["Q1573613"]} |
Pneumococcal infection
Other namesPneumococcosis
SpecialtyRespirology, neurology
A pneumococcal infection is an infection caused by the bacterium Streptococcus pneumoniae, which is also called the pneumococcus. S. pneumoniae is a common member of the bacterial flora colonizing the nose and throat of 5–10... | Pneumococcal infection | c0032269 | 611 | wikipedia | https://en.wikipedia.org/wiki/Pneumococcal_infection | 2021-01-18T18:31:53 | {"mesh": ["D011008"], "wikidata": ["Q4366062"]} |
Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans c... | Langerhans cell histiocytosis | c0019621 | 612 | medlineplus | https://medlineplus.gov/genetics/condition/langerhans-cell-histiocytosis/ | 2021-01-27T08:25:25 | {"gard": ["6858"], "mesh": ["D006646"], "omim": ["604856"], "synonyms": []} |
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable ... | Female restricted epilepsy with intellectual disability | c1848137 | 613 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101039 | 2021-01-23T18:53:59 | {"gard": ["10806"], "mesh": ["C564715"], "omim": ["300088"], "umls": ["C1848137"], "synonyms": ["EFMR", "Juberg-Hellman syndrome"]} |
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such ... | Autosomal dominant optic atrophy plus syndrome | c1832466 | 614 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1215 | 2021-01-23T18:07:49 | {"gard": ["5243"], "mesh": ["C535351"], "omim": ["125250", "165199", "616648"], "umls": ["C1832466"], "icd-10": ["H47.2"], "synonyms": ["DOA+", "Optic atrophy-deafness-polyneuropathy-myopathy syndrome", "Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome"]} |
Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 1... | Spinal arteriovenous metameric syndrome | c0346068 | 615 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53721 | 2021-01-23T17:34:19 | {"gard": ["11892"], "umls": ["C0346068"], "icd-10": ["Q27.3"], "synonyms": ["Cobb syndrome", "Cutaneomeningospinal angiomatosis", "SAMS 1-31"]} |
Ochoa syndrome is a very rare condition that causes unusual facial expressions and problems with urination. People with this condition have a characteristic frown-like facial expression when they try to smile or laugh, often described as "inversion" of facial expression. Urinary tract problems may include the inabili... | Ochoa syndrome | c0403555 | 616 | gard | https://rarediseases.info.nih.gov/diseases/104/ochoa-syndrome | 2021-01-18T17:58:39 | {"mesh": ["C536480"], "omim": ["236730"], "umls": ["C0403555"], "orphanet": ["2704"], "synonyms": ["Hydronephrosis with peculiar facial expression", "Urofacial syndrome", "Inverted smile and occult neuropathic bladder", "Partial facial palsy with urinary abnormalities", "Urofacial Ochoa's syndrome", "UFS"]} |
The examples and perspective in this article deal primarily with the United Kingdom and do not represent a worldwide view of the subject. You may improve this article, discuss the issue on the talk page, or create a new article, as appropriate. (March 2018) (Learn how and when to remove this template message)
Al... | Alabama rot | None | 617 | wikipedia | https://en.wikipedia.org/wiki/Alabama_rot | 2021-01-18T18:41:07 | {"wikidata": ["Q16826773"]} |
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
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. (May... | Helsmoortel-Van der Aa syndrome | c4014538 | 618 | wikipedia | https://en.wikipedia.org/wiki/Helsmoortel-Van_der_Aa_syndrome | 2021-01-18T18:36:30 | {"gard": ["12931"], "umls": ["C4014538"], "orphanet": ["404448"], "wikidata": ["Q50349632"]} |
A number sign (#) is used with this entry because of evidence that alpha-thalassemia is caused by mutations in the alpha-globin genes (HBA1, 141800; HBA2, 141850).
Sequences 30 to 50 kb upstream from the alpha-globin gene cluster, referred to as the locus control region alpha (LCRA; 152422), have been found to be de... | ALPHA-THALASSEMIA | c0002312 | 619 | omim | https://www.omim.org/entry/604131 | 2019-09-22T16:12:27 | {"doid": ["1099"], "mesh": ["D017085"], "omim": ["604131"], "icd-9": ["282.43"], "icd-10": ["D56.0"], "orphanet": ["846"], "genereviews": ["NBK1435"]} |
This article is about the personality trait characterizing highly sensitive persons (HSPs). For the distinct but similarly-named disorder, see Sensory processing disorder.
Characteristics of SPS as graphically summarized by Greven et al. (review article, 2019)[1] A person with a high measure of SPS is said to be a h... | Sensory processing sensitivity | None | 620 | wikipedia | https://en.wikipedia.org/wiki/Sensory_processing_sensitivity | 2021-01-18T18:33:05 | {"wikidata": ["Q16261057"]} |
A number sign (#) is used with this entry because of evidence that vitiligo-associated multiple autoimmune disease susceptibility mapping to chromosome 17p13 can be accounted for by variants in the NALP1 gene (NLRP1; 606636), which encodes NACHT leucine-rich repeat protein-1, a regulator of the innate immune system.
... | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 | c1847835 | 621 | omim | https://www.omim.org/entry/606579 | 2019-09-22T16:10:20 | {"omim": ["606579"], "synonyms": ["Alternative titles", "VITILIGO", "SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED"]} |
Nutrient deficiency
A young cabbage plant exhibiting nitrogen deficiency.
All plants require sufficient supplies of macronutrients for healthy growth, and nitrogen (N) is a nutrient that is commonly in limited supply. Nitrogen deficiency in plants can occur when organic matter with high carbon content, such as sawd... | Nitrogen deficiency | None | 622 | wikipedia | https://en.wikipedia.org/wiki/Nitrogen_deficiency | 2021-01-18T18:29:42 | {"wikidata": ["Q923534"]} |
This article is about calluses and corns of human skin. For other uses, see Callus (disambiguation).
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article needs additional citations for verification.... | Callus | c0376154 | 623 | wikipedia | https://en.wikipedia.org/wiki/Callus | 2021-01-18T18:31:51 | {"mesh": ["D002145"], "icd-9": ["700"], "icd-10": ["L84"], "wikidata": ["Q2197452"]} |
Cholera is an infection of the small intestines that is caused by the bacterium Vibrio cholera. The condition can range from mild to severe and many affected people may have no obvious signs or symptoms. Approximately 5-10% of infected people will have severe disease with watery diarrhea and vomiting leading to r... | Cholera | c0008354 | 624 | gard | https://rarediseases.info.nih.gov/diseases/6043/cholera | 2021-01-18T18:01:28 | {"mesh": ["D002771"], "umls": ["C0008354"], "orphanet": ["173"], "synonyms": ["Vibrio cholerae infection"]} |
Pityriasis alba
SpecialtyDermatology
Pityriasis alba is a skin condition, a type of dermatitis,[1] commonly seen in children and young adults as dry, fine-scaled, pale patches on the face. It is self-limiting and usually only requires use of moisturizer creams.[2]
The condition is so named for the fine scaly ... | Pityriasis alba | c0085657 | 625 | wikipedia | https://en.wikipedia.org/wiki/Pityriasis_alba | 2021-01-18T18:43:55 | {"umls": ["C0085657"], "icd-9": ["696.5"], "icd-10": ["L30.5"], "wikidata": ["Q766511"]} |
A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger an... | Syndactyly type 8 | c1839728 | 626 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2498 | 2021-01-23T17:55:27 | {"gard": ["3559"], "mesh": ["C564100"], "omim": ["309630"], "umls": ["C1839728"], "icd-10": ["Q70.0"], "synonyms": ["Fusion of metacarpals 4 and 5"]} |
## Prevalence[edit]
Madagascar is among very few countries in Sub-Saharan Africa with an opportunity to slow the human immunodeficiency virus epidemic and avert the socioeconomic destruction that is evident in high-prevalence areas. With the internal and external migration of workforce to keep up with the labor need... | HIV/AIDS in Madagascar | None | 627 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Madagascar | 2021-01-18T18:34:19 | {"wikidata": ["Q5629858"]} |
A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transie... | Mosaic genome-wide paternal uniparental disomy | None | 628 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329813 | 2021-01-23T18:41:55 | {"synonyms": ["Androgenetic/biparental mosaicism", "Genome-wide paternal uniparental disomy mosaicism", "Mosaic genome-wide paternal UPD"]} |
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young type 3 (MODY3) is caused by mutation in the hepatocyte nuclear factor-1-alpha gene (142410), which maps to chromosome 12q24.2.
MODY is a form of familial noninsulin-dependent diabetes mellitus (NIDDM; 125853) and ... | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 | c0342276 | 629 | omim | https://www.omim.org/entry/600496 | 2019-09-22T16:16:10 | {"doid": ["0111102"], "mesh": ["C562772"], "omim": ["600496"], "orphanet": ["552"], "synonyms": ["Alternative titles", "MODY, TYPE 3"], "genereviews": ["NBK500456"]} |
Tourist experience of being overwhelmed by finally visiting Paris
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: "Paris syndrome" – news · newspapers · books · schola... | Paris syndrome | None | 630 | wikipedia | https://en.wikipedia.org/wiki/Paris_syndrome | 2021-01-18T18:40:33 | {"wikidata": ["Q1462780"]} |
Not to be confused with Tietze syndrome.
Tietz syndrome
Other namesHypopigmentation-deafness syndrome
Tietz syndrome has an autosomal dominant pattern of inheritance.
SpecialtyPediatrics
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz,[1] is an autosomal ... | Tietz syndrome | c0391816 | 631 | wikipedia | https://en.wikipedia.org/wiki/Tietz_syndrome | 2021-01-18T18:33:08 | {"gard": ["7772"], "mesh": ["C536919"], "umls": ["C0391816"], "icd-10": ["E70.3"], "orphanet": ["42665"], "wikidata": ["Q7801152"]} |
A number sign (#) is used with this entry because of evidence that lissencephaly-5 (LIS5) is caused by homozygous or compound heterozygous mutation in the LAMB1 gene (150240) on chromosome 7q31.
Description
Lissencephaly-5 is an autosomal recessive brain malformation characterized by cobblestone changes in the ... | LISSENCEPHALY 5 | c3554657 | 632 | omim | https://www.omim.org/entry/615191 | 2019-09-22T15:52:57 | {"doid": ["0050453"], "omim": ["615191"], "orphanet": ["352682"], "synonyms": ["Cobblestone lissencephaly without muscular or eye involvement", "Lissencephaly type 2 without muscular or eye involvement", "Lissencephaly type 2 without muscular or ocular involvement"]} |
## Clinical Features
In 2 half brothers with the same mother, Chitayat et al. (1991) described the Robin sequence and facial and digital anomalies. Both sons, aged 6 months and 4 years, had normal psychomotor development. The digital features consisted of tapering fingers, hyperconvex nails, clinodactyly of the fif... | PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES | c2931064 | 633 | omim | https://www.omim.org/entry/311895 | 2019-09-22T16:17:27 | {"mesh": ["C564078"], "omim": ["311895"], "orphanet": ["2888"]} |
## Summary
### Clinical characteristics.
CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infertility (NSMI) or the deafness-infertility syndrome (DIS) when associated with non-progressive prelingual sensorineural hearing loss. Males with NSMI ... | CATSPER-Related Male Infertility | None | 634 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK22925/ | 2021-01-18T21:38:44 | {"synonyms": []} |
Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. "Spondylo"refers to the spine (vertebrae), "metaphysis" refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and "dysplasia" means abnor... | Spondylometaphyseal dysplasia, Kozlowski type | c0265280 | 635 | gard | https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type | 2021-01-18T17:57:31 | {"mesh": ["C535797"], "omim": ["184252"], "orphanet": ["93314"], "synonyms": ["Dysmorphism arthrogryposis skeletal maturation advanced", "Jequier-Kozlowski syndrome", "Skeletal dysplasia Jequier-Kozlowski type", "SMD Kozlowski type", "Jequier Kozlowski skeletal dysplasia"]} |
Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre... | Wrinkly skin syndrome | c0406587 | 636 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2834 | 2021-01-23T19:10:52 | {"gard": ["273"], "mesh": ["C536750"], "omim": ["278250"], "umls": ["C0406587"], "icd-10": ["Q82.8"], "synonyms": ["WSS", "Wrinkled skin syndrome"]} |
Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located a... | Periventricular heterotopia | c1842563 | 637 | medlineplus | https://medlineplus.gov/genetics/condition/periventricular-heterotopia/ | 2021-01-27T08:25:04 | {"gard": ["12724"], "mesh": ["C564292"], "omim": ["608097", "300049", "608098", "617201"], "synonyms": []} |
Dopamine-responsive dystonia
Other namesSegawa syndrome, Segawa's disease, Segawa's dystonia, hereditary progressive dystonia with diurnal fluctuation
SpecialtyNeurology, medical genetics
Dopamine-responsive dystonia (DRD) also known as Segawa syndrome (SS), is a genetic movement disorder which usually manif... | Dopamine-responsive dystonia | c1851920 | 638 | wikipedia | https://en.wikipedia.org/wiki/Dopamine-responsive_dystonia | 2021-01-18T19:02:55 | {"gard": ["9817"], "mesh": ["C538007"], "umls": ["C1851920"], "icd-10": ["G24.1"], "orphanet": ["255"], "wikidata": ["Q689777"]} |
A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, viti... | Combined immunodeficiency with granulomatosis | c2673536 | 639 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157949 | 2021-01-23T17:43:52 | {"mesh": ["C567115"], "omim": ["233650"], "umls": ["C2673536"], "icd-10": ["D81.1"], "synonyms": ["CID due to RAG 1/2 deficiency", "Combined immunodeficiency due to RAG 1/2 deficiency"]} |
A number sign (#) is used with this entry because of evidence that presynaptic congenital myasthenic syndrome-7 (CMS7) is caused by heterozygous mutation in the SYT2 gene (600104) on chromosome 1q32.
Description
Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular jun... | MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC | c0751884 | 640 | omim | https://www.omim.org/entry/616040 | 2019-09-22T15:50:10 | {"doid": ["0110659"], "mesh": ["D020294"], "omim": ["616040"], "orphanet": ["98914", "590"], "synonyms": ["Alternative titles", "MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTOR NEUROPATHY"], "genereviews": ["NBK1168"]} |
Rare genetic disorder of the white matter of the brain
Alexander disease
Brain of a 4-year-old boy with Alexander disease showing macroencephaly and periventricular leukomalacia (note brownish discoloration around the cerebral ventricles)
SpecialtyEndocrinology, neurology
Alexander disease is a very rare au... | Alexander disease | c0270726 | 641 | wikipedia | https://en.wikipedia.org/wiki/Alexander_disease | 2021-01-18T19:03:04 | {"gard": ["5774"], "mesh": ["D038261"], "umls": ["C0270726"], "icd-9": ["331.89"], "icd-10": ["E75.2"], "orphanet": ["58"], "wikidata": ["Q567820"]} |
Lisch epithelial corneal dystrophy
Other namesBand-shaped and whorled microcystic dystrophy of the corneal epithelium
X-linked recessive is the inheritance pattern of this condition
SpecialtyOphthalmology
Lisch epithelial corneal dystrophy (LECD), also known as band-shaped and whorled microcystic dystr... | Lisch epithelial corneal dystrophy | c2749050 | 642 | wikipedia | https://en.wikipedia.org/wiki/Lisch_epithelial_corneal_dystrophy | 2021-01-18T18:57:34 | {"mesh": ["C567588"], "umls": ["C2749050"], "orphanet": ["98955"], "wikidata": ["Q4162391"]} |
Immune reconstitution inflammatory syndrome
SpecialtyImmunology
Immune reconstitution inflammatory syndrome (IRIS) is a condition seen in some cases of AIDS or immunosuppression, in which the immune system begins to recover, but then responds to a previously acquired opportunistic infection with an overwhe... | Immune reconstitution inflammatory syndrome | c1619738 | 643 | wikipedia | https://en.wikipedia.org/wiki/Immune_reconstitution_inflammatory_syndrome | 2021-01-18T19:02:18 | {"mesh": ["D054019"], "wikidata": ["Q539986"]} |
Luo et al. (1995) performed affected-sib-pair analyses in 104 Caucasian families to map genes predisposed to insulin-dependent diabetes mellitus (IDDM; see 222100). They observed linkage for D6S446 (maximum lod = 2.8) and for D6S264 (maximum lod = 2.0) on 6q25-q27. Together with a previously reported data set, linkag... | DIABETES MELLITUS, INSULIN-DEPENDENT, 8 | c1833218 | 644 | omim | https://www.omim.org/entry/600883 | 2019-09-22T16:15:44 | {"mesh": ["C563433"], "omim": ["600883"], "synonyms": ["Alternative titles", "INSULIN-DEPENDENT DIABETES MELLITUS 8"]} |
A number sign (#) is used with this entry because transient neonatal diabetes mellitus-1 (TNDM1; '6q diabetes') is caused by overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 (603044) and HYMAI (606546).
Some TNMD1 cases are caused by homoz... | DIABETES MELLITUS, TRANSIENT NEONATAL, 1 | c1832386 | 645 | omim | https://www.omim.org/entry/601410 | 2019-09-22T16:14:53 | {"doid": ["0060334"], "mesh": ["C563322"], "omim": ["601410"], "orphanet": ["99886"], "synonyms": ["Alternative titles", "6q24-RELATED DIABETES MELLITUS", "TNDM", "DMTN"], "genereviews": ["NBK1534"]} |
A number sign (#) is used with this entry because individuals heterozygous for mutation in the ABCC6 gene (603234) in the overwhelming majority of cases express limited manifestations of the pseudoxanthoma elasticum phenotype. In rare cases heterozygosity for mutations in the ABCC6 gene appears to result in expressio... | PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE | c0033847 | 646 | omim | https://www.omim.org/entry/177850 | 2019-09-22T16:35:34 | {"doid": ["2738"], "mesh": ["D011561"], "omim": ["177850"], "orphanet": ["758"], "genereviews": ["NBK1113"]} |
Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last sec... | Paroxysmal extreme pain disorder | c1833661 | 647 | medlineplus | https://medlineplus.gov/genetics/condition/paroxysmal-extreme-pain-disorder/ | 2021-01-27T08:25:03 | {"gard": ["12854"], "mesh": ["C563475"], "omim": ["167400"], "synonyms": []} |
## Clinical Features
Temtamy and McKusick (1978) observed a mother and son with double nails on the little toes--one on top of the other. The woman's grandson through an unaffected daughter had postaxial polydactyly.
Limbs \- Double nails on fifth toes Inheritance \- Autosomal dominant ▲ Close
*[v]: View thi... | DOUBLE NAIL FOR FIFTH TOE | c1852023 | 648 | omim | https://www.omim.org/entry/126500 | 2019-09-22T16:42:10 | {"mesh": ["C565090"], "omim": ["126500"]} |
Opioid use disorder
Other namesOpioid addiction,[1] problematic opioid use,[1] opioid abuse,[2] opioid dependence[3]
Molecular structure of morphine
SpecialtyAddiction Medicine, Psychiatry
SymptomsStrong desire to use opioids, increased tolerance to opioids, failure to meet obligations, trouble with reducing ... | Opioid use disorder | c0029095 | 649 | wikipedia | https://en.wikipedia.org/wiki/Opioid_use_disorder | 2021-01-18T18:57:46 | {"mesh": ["D009293"], "umls": ["C0029095"], "wikidata": ["Q1639178"]} |
## Description
Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has... | MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME | c0431648 | 650 | omim | https://www.omim.org/entry/277000 | 2019-09-22T16:21:25 | {"mesh": ["C537371"], "omim": ["277000"], "orphanet": ["247775", "3109"], "synonyms": ["Alternative titles", "MRKH SYNDROME", "MULLERIAN APLASIA/DYSGENESIS", "VON MAYER-ROKITANSKY-KUSTER ANOMALY", "MRKH ANOMALY", "MRK ANOMALY", "UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA", "CONGENITAL ABSENCE OF UTERUS A... |
Meth mouth
The mouth of a person with symptoms similar to those caused by long-term use of methamphetamine
Meth mouth is severe tooth decay and tooth loss, as well as tooth fracture, acid erosion, and other oral problems, potentially symptomatic of extended use of the drug methamphetamine. The condition is tho... | Meth mouth | None | 651 | wikipedia | https://en.wikipedia.org/wiki/Meth_mouth | 2021-01-18T18:54:20 | {"wikidata": ["Q956605"]} |
## Description
Malpositioning, or ectopic placement, of teeth is believed to result from a disturbance of the tooth developmental structure. Various forms of the disorder tend to be associated with one another and with hypodontia. It is important to recognize any associations of tooth anomalies as early diagnos... | MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA | c2752157 | 652 | omim | https://www.omim.org/entry/189490 | 2019-09-22T16:32:29 | {"omim": ["189490"], "synonyms": ["Alternative titles", "ECTOPIC ERUPTION OF TEETH"]} |
Perlman syndrome is a rare condition that affects the kidneys. People with this condition are generally born with renal abnormalities and have an increased risk for Wilms tumor, a rare kidney cancer that primarily affects children. Other signs and symptoms include a large birth size, low-muscle tone, characteristic f... | Perlman syndrome | c0796113 | 653 | gard | https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome | 2021-01-18T17:58:22 | {"mesh": ["C536399"], "omim": ["267000"], "umls": ["C0796113"], "orphanet": ["2849"], "synonyms": ["Nephroblastomatosis fetal ascites macrosomia and wilms tumor", "Renal hamartomas, nephroblastomatosis, and fetal gigantism"]} |
## Summary
### Clinical characteristics.
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families.
* Liver diseas... | Wilson Disease | c0019202 | 654 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1512/ | 2021-01-18T20:49:28 | {"mesh": ["D006527"], "synonyms": ["Hepatolenticular Degeneration"]} |
Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.
## Epidemiology
FMPP is a very rare con... | Familial male-limited precocious puberty | c0342549 | 655 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3000 | 2021-01-23T18:54:57 | {"gard": ["4475"], "mesh": ["C536961"], "omim": ["176410"], "umls": ["C0342549", "C1504412"], "icd-10": ["E30.1"], "synonyms": ["FMPP", "Familial gonadotropin-independent male-limited sexual precocity", "Male-limited precocious puberty", "Testotoxicosis"]} |
This article needs editing for compliance with Wikipedia's Manual of Style. In particular, it has problems with not using MEDMOS. Please help improve it if you can. (July 2017) (Learn how and when to remove this template message)
Estrogen insensitivity syndrome
Other namesEIS; Complete estrogen insensitivity s... | Estrogen insensitivity syndrome | c3809250 | 656 | wikipedia | https://en.wikipedia.org/wiki/Estrogen_insensitivity_syndrome | 2021-01-18T18:58:31 | {"umls": ["C3809250"], "orphanet": ["785"], "wikidata": ["Q5401847"]} |
A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-14 with polydactyly (SRTD14) is caused by homozygous mutation in the KIAA0586 gene (610178) on chromosome 14q23.
Description
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autoso... | SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY | c4225286 | 657 | omim | https://www.omim.org/entry/616546 | 2019-09-22T15:48:33 | {"doid": ["0110096"], "omim": ["616546"], "orphanet": ["397715"], "synonyms": ["JBTS with JATD", "Joubert syndrome with JATD"]} |
A rare syndrome characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linke... | Atkin-Flaitz syndrome | c0796206 | 658 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1193 | 2021-01-23T17:12:03 | {"gard": ["3537"], "mesh": ["C538195"], "omim": ["300431"], "umls": ["C0796206"], "icd-10": ["Q87.8"], "synonyms": ["X-linked intellectual disability, Atkin type"]} |
Becker's nevus
Becker's nevus on the left shoulder
SpecialtyUnknown
Becker's nevus (also known as "Becker's melanosis", "Becker's pigmentary hamartoma", "nevoid melanosis", and "pigmented hairy epidermal nevus"[1]) is a skin disorder predominantly affecting males.[2]:687 The nevus can be present at birth, bu... | Becker's nevus | c0263579 | 659 | wikipedia | https://en.wikipedia.org/wiki/Becker%27s_nevus | 2021-01-18T19:00:26 | {"gard": ["3856", "5901"], "mesh": ["C565735"], "umls": ["C0263579", "C1858042"], "icd-9": ["216"], "icd-10": ["D22.5"], "orphanet": ["64755"], "wikidata": ["Q813705"]} |
Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals typically have shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis typically have short stature. Most people with the condition also have an a... | Léri-Weill dyschondrosteosis | c0152441 | 660 | medlineplus | https://medlineplus.gov/genetics/condition/leri-weill-dyschondrosteosis/ | 2021-01-27T08:25:38 | {"gard": ["3224"], "mesh": ["C562398"], "omim": ["127300"], "synonyms": []} |
Disseminated superficial actinic porokeratosis
A porokeratosis lesion in a patient with disseminated superficial actinic porokeratosis.
SpecialtyDermatology
Disseminated superficial actinic porokeratosis (DSAP) is a non-contagious skin condition with apparent genetic origin in the SART3 gene.[1]:533 It most ... | Disseminated superficial actinic porokeratosis | c0162839 | 661 | wikipedia | https://en.wikipedia.org/wiki/Disseminated_superficial_actinic_porokeratosis | 2021-01-18T19:01:36 | {"gard": ["10983"], "mesh": ["D017499"], "umls": ["C0162839", "C0265970"], "orphanet": ["79152"], "wikidata": ["Q5282749"]} |
A number sign (#) is used with this entry because of evidence that 46,XX male sex reversal can be caused by genomic duplications or deletions in the SOX3 (313430) regulatory region on chromosome Xq26.
Clinical Features
Sutton et al. (2011) studied 3 46,XX SRY (480000)-negative male sex reversal patients. Patien... | 46,XX SEX REVERSAL 3 | c0432475 | 662 | omim | https://www.omim.org/entry/300833 | 2019-09-22T16:19:32 | {"omim": ["300833"], "orphanet": ["393"], "synonyms": ["Alternative titles", "CHROMOSOME Xq26 DUPLICATION SYNDROME", "46,XX SEX REVERSAL, SOX3-RELATED"]} |
disease of humans caused by mites
"Rat mite dermatitis" redirects here. For similar conditions, see Acariasis.
Rodent mite dermatitis
Other namesRat mite dermatitis
SpecialtyDermatology
Rodent mite dermatitis (also known as rat mite dermatitis) is an often unrecognized ectoparasitosis occurring after human... | Rodent mite dermatitis | None | 663 | wikipedia | https://en.wikipedia.org/wiki/Rodent_mite_dermatitis | 2021-01-18T18:38:20 | {"wikidata": ["Q56289962"]} |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (ar... | Arrhythmogenic right ventricular cardiomyopathy | c1862511 | 664 | medlineplus | https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/ | 2021-01-27T08:24:44 | {"gard": ["5847"], "mesh": ["C566254"], "omim": ["107970", "610193", "610476", "611528", "615616", "600996", "602086", "602087", "604400", "604401", "607450", "609040"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-2B (DFNA2B) is caused by mutation in the GJB3 gene (603324) on chromosome 1p34.3
See also DFNA2A (600101), which is caused by mutation in the KCNQ4 gene (603537) on chromosome 1p34.2.
Clinical Features
Xia et al. (1998) ... | DEAFNESS, AUTOSOMAL DOMINANT 2B | c2675236 | 665 | omim | https://www.omim.org/entry/612644 | 2019-09-22T16:00:55 | {"doid": ["0110559"], "mesh": ["C567214"], "omim": ["612644"], "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... |
Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life.
Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in th... | Hepatic veno-occlusive disease with immunodeficiency | c1856128 | 666 | medlineplus | https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/ | 2021-01-27T08:25:10 | {"gard": ["10083"], "mesh": ["C537257"], "omim": ["235550"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that familial adult myoclonic epilepsy-6 (FAME6) is caused by a heterozygous 5-bp repeat expansion (TTTCA(n)) in the TNRC6A gene (610739) on chromosome 16p12. One such family has been reported.
For a phenotypic description and a discussion of genetic hete... | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 | None | 667 | omim | https://www.omim.org/entry/618074 | 2019-09-22T15:43:46 | {"omim": ["618074"], "synonyms": ["Alternative titles", "BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 6", "CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 6"]} |
A number sign (#) is used with this entry because of evidence that sessile serrated polyposis cancer syndrome (SSPCS) is caused by heterozygous mutation in the RNF43 gene (612482) on chromosome 17q22.
Description
Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of ... | SESSILE SERRATED POLYPOSIS CANCER SYNDROME | c4310714 | 668 | omim | https://www.omim.org/entry/617108 | 2019-09-22T15:46:53 | {"omim": ["617108"], "orphanet": ["157798"], "synonyms": ["Serrated polyposis"]} |
EEM syndrome
EEM syndrome has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics
EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome)[1] is an autosomal recessive[2] congenital malformation disorder affecting tissues associated with the ectoderm (skin, hai... | EEM syndrome | c1857041 | 669 | wikipedia | https://en.wikipedia.org/wiki/EEM_syndrome | 2021-01-18T18:52:56 | {"gard": ["2078"], "mesh": ["C536190"], "umls": ["C1857041"], "icd-9": ["757.31"], "icd-10": ["Q82.4"], "orphanet": ["1897"], "wikidata": ["Q5322931"]} |
Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.
*[v]: View this template
*[t]... | Preeclampsia | c0032914 | 670 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275555 | 2021-01-23T17:00:22 | {"mesh": ["D011225"], "omim": ["189800", "609402", "609403", "609404", "614595"], "umls": ["C0032914"], "icd-10": ["O14.0", "O14.1", "O14.2", "O14.9"]} |
A number sign (#) is used with this entry because of evidence that extraoral halitosis due to methanethiol oxidase deficiency (EHMTO) is caused by homozygous or compound heterozygous mutations in the SELENBP1 gene (604188) on chromosome 1q21.
Clinical Features
Pol et al. (2018) identified 4 patients from 3 families... | EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY | None | 671 | omim | https://www.omim.org/entry/618148 | 2019-09-22T15:43:22 | {"omim": ["618148"], "synonyms": ["Alternative titles", "METHANETHIOL OXIDASE DEFICIENCY", "MTO DEFICIENCY", "EXTRAORAL HALITOSIS WITH DIMETHYLSULFOXIDURIA"]} |
Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, sh... | Autoimmune myocarditis | c1608389 | 672 | gard | https://rarediseases.info.nih.gov/diseases/9519/autoimmune-myocarditis | 2021-01-18T18:01:58 | {"umls": ["C1608389"], "synonyms": []} |
Byers et al. (1978) studied a family in which 4 members of 3 generations had spondyloepiphyseal dysplasia (SED) and a punctate dystrophy of the full depth of the corneal stroma. The corneal dystrophy did not interfere with vision. The pedigree pattern was consistent with autosomal dominant inheritance but no male-to-... | SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY | c1866727 | 673 | omim | https://www.omim.org/entry/183850 | 2019-09-22T16:34:25 | {"mesh": ["C566660"], "omim": ["183850"], "orphanet": ["163673"]} |
Form of arthritis caused by degeneration of joints
Osteoarthritis
Other namesDegenerative arthritis, degenerative joint disease, osteoarthrosis
The formation of hard knobs at the middle finger joints (known as Bouchard's nodes) and at the farthest joints of the fingers (known as Heberden's nodes) are a common fe... | Osteoarthritis | c0029408 | 674 | wikipedia | https://en.wikipedia.org/wiki/Osteoarthritis | 2021-01-18T18:39:28 | {"mesh": ["D010003"], "umls": ["C0157946", "C0029408"], "icd-9": ["715715"], "icd-10": ["M47", "M19", "M15"], "wikidata": ["Q62736"]} |
Partial hydatiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accom... | Partial hydatidiform mole | c0334529 | 675 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254693 | 2021-01-23T17:58:31 | {"mesh": ["D006828"], "umls": ["C0334529"], "icd-10": ["O01.1"], "synonyms": ["Incomplete hydatidiform mole", "Incomplete molar pregnancy", "Partial molar pregnancy"]} |
Balantidiasis
Balantidium coli as seen in a wet mount of a stool specimen. The organism is surrounded by cilia.
SpecialtyInfectious disease
Balantidiasis is a protozoan infection caused by infection with Balantidium coli.[1]
## Contents
* 1 Symptoms and signs
* 2 Transmission
* 3 Morphology
* 4 Dia... | Balantidiasis | c0004692 | 676 | wikipedia | https://en.wikipedia.org/wiki/Balantidiasis | 2021-01-18T18:33:51 | {"gard": ["809"], "mesh": ["D001447"], "umls": ["C0004692"], "wikidata": ["Q2447562"]} |
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: "Oligoastrocytoma" – news · newspapers · books · scholar · JSTOR (May 2011) (Learn how and when to remove this templ... | Oligoastrocytoma | c0280793 | 677 | wikipedia | https://en.wikipedia.org/wiki/Oligoastrocytoma | 2021-01-18T18:48:46 | {"gard": ["9769"], "mesh": ["D009837"], "orphanet": ["251656"], "wikidata": ["Q1938668"]} |
Vitamin K deficiency
SpecialtyEndocrinology
Symptomsbruising, petechiae, hematomas, oozing of blood at surgical or puncture sites, stomach pains, cartilage calcification, and severe malformation of developing bone or deposition of insoluble calcium salts in the walls of arteries.
Causesinsufficient dietary ... | Vitamin K deficiency | c0042880 | 678 | wikipedia | https://en.wikipedia.org/wiki/Vitamin_K_deficiency | 2021-01-18T18:58:48 | {"mesh": ["D014813"], "umls": ["C0042880"], "wikidata": ["Q4138767"]} |
A number sign (#) is used with this entry because of evidence that O'Donnell-Luria-Rodan syndrome (ODLURO) is caused by heterozygous mutation in the KMT2E gene (608444) on chromosome 7q22.
Description
O'Donnell-Luria-Rodan syndrome (ODLURO) is a neurodevelopmental disorder characterized by global developmental ... | O'DONNELL-LURIA-RODAN SYNDROME | None | 679 | omim | https://www.omim.org/entry/618512 | 2019-09-22T15:41:36 | {"omim": ["618512"]} |
MECP2 duplication syndrome
Other namesX-linked intellectual disability-hypotonia-recurrent Infections syndrome
This condition is due to MECP2 overexpression
SpecialtyMedical genetics
MECP2 duplication syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired mot... | MECP2 duplication syndrome | c1846058 | 680 | wikipedia | https://en.wikipedia.org/wiki/MECP2_duplication_syndrome | 2021-01-18T18:39:53 | {"gard": ["9781"], "mesh": ["C537723"], "umls": ["C1846058"], "orphanet": ["85281"], "wikidata": ["Q24975607"]} |
## Summary
### Clinical characteristics.
Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. Disease manifestations occur during infancy or childhood and with similar frequency in females and males. Individuals with HEP are... | Hepatoerythropoietic Porphyria | c0162569 | 681 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK169003/ | 2021-01-18T21:21:58 | {"mesh": ["D017121"], "synonyms": []} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities.
... | Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome | None | 682 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77300 | 2021-01-23T17:08:56 | {"icd-10": ["Q87.0"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-50 (MRT50) is caused by homozygous mutation in the EDC3 gene (609842) on chromosome 15q24. One such family has been reported.
Clinical Features
Ahmed et al. (2015) reported 2 sibs, born of consanguineous Syrian... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 | c4225319 | 683 | omim | https://www.omim.org/entry/616460 | 2019-09-22T15:48:52 | {"omim": ["616460"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-56 (RP56) is caused by homozygous mutation in the gene encoding interphotoreceptor matrix proteoglycan-2 (IMPG2; 607056) on chromosome 3q12.
For a general phenotypic description and a discussion of genetic heterogeneity of retini... | RETINITIS PIGMENTOSA 56 | c0035334 | 684 | omim | https://www.omim.org/entry/613581 | 2019-09-22T15:58:14 | {"doid": ["0110371"], "mesh": ["D012174"], "omim": ["613581"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
A number sign (#) is used with this entry because X-linked atrophic macular degeneration can be caused by mutation in the RPGR gene (312610).
Clinical Features
Ayyagari et al. (2002) described a family in which 10 males had primarily macular atrophy causing progressive loss of visual acuity with minimal peripheral ... | MACULAR DEGENERATION, X-LINKED ATROPHIC | c3489532 | 685 | omim | https://www.omim.org/entry/300834 | 2019-09-22T16:19:30 | {"mesh": ["D000071700"], "omim": ["120970", "300834"], "orphanet": ["1872"], "synonyms": []} |
A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.
## Epidemiology
Less than 60 cases have been described in the literature so far.
## Clinical description
The facial dys... | Microcephalic osteodysplastic primordial dwarfism types I and III | c1859452 | 686 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2636 | 2021-01-23T17:54:28 | {"gard": ["5120"], "mesh": ["C537577"], "omim": ["210710", "210730"], "icd-10": ["Q87.1"], "synonyms": ["MOPD types I and III", "Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type", "Primordial microcephalic dwarfism, Crachami type", "Taybi-Linder syndrome"]} |
A number sign (#) is used with this entry because hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is caused by homozygous or compound heterozygous mutation in the DARS gene (DARS1; 603084) on chromosome 2q21.
Description
Hypomyelination with brainstem and spinal cord involvement... | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY | c3809008 | 687 | omim | https://www.omim.org/entry/615281 | 2019-09-22T15:52:40 | {"omim": ["615281"], "orphanet": ["363412"], "synonyms": ["ASPARTYL-tRNA SYNTHETASE DEFICIENCY", "HBSL", "Alternative titles"]} |
Peroneal nerve paralysis
Other namesPeroneal nerve palsy, Zenker’s paralysis
Location of peroneal nerve on foot
SpecialtyNeurology
Peroneal nerve paralysis is a paralysis on common fibular nerve that affects patient’s ability to lift the foot at the ankle. The condition was named after Friedrich Albert von... | Peroneal nerve paralysis | c0270810 | 688 | wikipedia | https://en.wikipedia.org/wiki/Peroneal_nerve_paralysis | 2021-01-18T18:46:00 | {"mesh": ["D020427"], "wikidata": ["Q3895159"]} |
Herpes gladiatorum is one of the most infectious of herpes-caused diseases, and is transmissible by skin-to-skin contact. The disease was first described in the 1960s in the New England Journal of Medicine. It is caused by contagious infection with human herpes simplex virus type 1 (HSV-1),[1] which more commonly... | Herpes gladiatorum | c2030860 | 689 | wikipedia | https://en.wikipedia.org/wiki/Herpes_gladiatorum | 2021-01-18T18:38:15 | {"wikidata": ["Q17155680"]} |
Antineoplastic resistance, often used interchangeably with chemotherapy resistance, is the resistance of neoplastic (cancerous) cells, or the ability of cancer cells to survive and grow despite anti-cancer therapies.[1] In some cases, cancers can evolve resistance to multiple drugs, called multiple drug resistanc... | Antineoplastic resistance | None | 690 | wikipedia | https://en.wikipedia.org/wiki/Antineoplastic_resistance | 2021-01-18T18:54:25 | {"mesh": ["D019008"], "wikidata": ["Q13416904"]} |
A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granula... | Epidermolytic palmoplantar keratoderma | c1721006 | 691 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2199 | 2021-01-23T18:44:08 | {"gard": ["2826"], "mesh": ["D053546"], "omim": ["144200"], "umls": ["C0343110", "C1721006", "C2931735"], "icd-10": ["Q82.8"], "synonyms": ["Diffuse erythrodermic palmoplantar keratoderma, Voerner type", "Diffuse erythrodermic palmoplantar keratoderma, Vörner type", "EPPK", "Epidermolytic palmoplantar keratoderma of Vo... |
Hyperpathia is a clinical symptom of certain neurological disorders wherein nociceptive stimuli evoke exaggerated levels of pain. This should not be confused with allodynia, where normally non-painful stimuli evoke pain.
## Mechanism[edit]
Hyperpathia describes the neuropathic pain which the pain threshold on one h... | Hyperpathia | c0020429 | 692 | wikipedia | https://en.wikipedia.org/wiki/Hyperpathia | 2021-01-18T18:42:36 | {"mesh": ["D006930"], "wikidata": ["Q536517"]} |
Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.
## Epidemiology
Exact incidence data are not available. The disorder occurs in 10% to 20% of children born to mothers with myasthenia... | Transient neonatal myasthenia gravis | c0495465 | 693 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391504 | 2021-01-23T18:18:39 | {"mesh": ["D020941"], "umls": ["C0158982", "C0495465"], "icd-10": ["P94.0"], "synonyms": ["NMG", "Neonatal myasthenia gravis", "Transient neonatal acquired myasthenia", "Transient neonatal autoimmune myasthenia gravis"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see (600669).
Clinical Features
Kinirons et al. (2008) identified 20 French Canadian families with autosomal dominant generalized epilepsy.
Mapping
By linkage analysis in a large French Canadian fami... | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5 | c2677808 | 694 | omim | https://www.omim.org/entry/611934 | 2019-09-22T16:02:41 | {"omim": ["611934"], "synonyms": ["Alternative titles", "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 10"]} |
A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.
## Epidemiolo... | Alpha-heavy chain disease | c0021071 | 695 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100025 | 2021-01-23T17:59:04 | {"mesh": ["D007161"], "umls": ["C0021071"], "icd-10": ["C88.3"], "synonyms": ["Alpha-HCD", "IPSID", "Immunoproliferative small intestinal disease", "Mediterranean lymphoma"]} |
"NTOS" redirects here. For the Windows NT microkernel used in computing, see Windows NT kernel.
Thoracic outlet syndrome
The right brachial plexus, viewed from in front.
SpecialtyVascular surgery, thoracic surgery
SymptomsPain, weakness, loss of muscle at the base of the thumb, swelling, paleness, bluish color... | Thoracic outlet syndrome | c0039984 | 696 | wikipedia | https://en.wikipedia.org/wiki/Thoracic_outlet_syndrome | 2021-01-18T18:30:36 | {"gard": ["7759"], "mesh": ["D013901"], "umls": ["C0039984"], "icd-9": ["353.0"], "orphanet": ["97330"], "wikidata": ["Q665207"]} |
Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).
## Epidemiology
Prevalence is unknown.
## Clinical description
Skin lesions appear during adolescence or more often at the age of 30-40 years; they are r... | Familial benign chronic pemphigus | c0085106 | 697 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2841 | 2021-01-23T19:05:26 | {"gard": ["6559"], "mesh": ["D016506"], "omim": ["169600"], "umls": ["C0085106"], "icd-10": ["Q82.8"], "synonyms": ["Benign chronic familial pemphigus of Hailey-Hailey", "Hailey-Hailey disease"]} |
Activated protein C resistance (APCR)
Protein C Anticoagulant Pathway: Thrombin escaping from a site of vascular injury binds to its receptor thrombomodulin (TM) on the intact cell surface. As a result, thrombin loses its procoagulant properties and instead becomes a potent activator of protein C. Activated protein... | Activated protein C resistance | c1861171 | 698 | wikipedia | https://en.wikipedia.org/wiki/Activated_protein_C_resistance | 2021-01-18T19:05:45 | {"mesh": ["D020016", "C566056"], "umls": ["C1861171"], "icd-9": ["289.81"], "wikidata": ["Q296104"]} |
Sialectasis (also termed sialectasia, or siadochiectasis)[1] is cystic dilation of the ducts of salivary glands.[2] It may be caused by salivary duct strictures or stones (sialolithiasis).[3] It can also rarely be congenital.[4]
## See also[edit]
* Bronchiectasis
## References[edit]
1. ^ "Radiopedia".
2... | Sialectasis | c0266996 | 699 | wikipedia | https://en.wikipedia.org/wiki/Sialectasis | 2021-01-18T18:44:43 | {"umls": ["C0266996"], "wikidata": ["Q25339405"]} |
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