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Cervical spine disorder
Cervical vertebrate
Cervical spine disorders are illnesses that affect the cervical spine, which is made up of the upper first seven vertebrae, encasing and shielding the spinal cord. This fragment of the spine starts from the region above the shoulder blades and ends by supporting and ... | Cervical spine disorder | c1290145 | 8,300 | wikipedia | https://en.wikipedia.org/wiki/Cervical_spine_disorder | 2021-01-18T18:55:05 | {"umls": ["C1290145"], "wikidata": ["Q5065358"]} |
A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major... | Toxocariasis | c0040553 | 8,301 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3343 | 2021-01-23T17:29:01 | {"mesh": ["D014120"], "umls": ["C0040553"], "icd-10": ["B83.0"]} |
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: "Allergic reactions to anesthesia" – news · newspapers · books · scholar · JSTOR (January 2009) (Learn how and when to r... | Allergic reactions to anesthesia | None | 8,302 | wikipedia | https://en.wikipedia.org/wiki/Allergic_reactions_to_anesthesia | 2021-01-18T18:45:00 | {"wikidata": ["Q4732120"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-15 (SCAR15) is caused by homozygous mutation in the KIAA0226 gene (RUBCN; 613516) on chromosome 3q29. One such family has been reported.
Clinical Features
Assoum et al. (2010) reported a consanguineous ... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 | c3810326 | 8,303 | omim | https://www.omim.org/entry/615705 | 2019-09-22T15:51:14 | {"doid": ["0080057"], "omim": ["615705"], "orphanet": ["404499"], "synonyms": ["Salih ataxia", "SCAR15", "Autosomal recessive spinocerebellar ataxia type 15", "Alternative titles", "SALIH ATAXIA"]} |
Rosselli–Gulienetti syndrome
Other namesZlotogora–Ogur syndrome
This condition is inherited in an autosomal recessive manner[1]
Rosselli–Gulienetti syndrome,[2] also known as Zlotogora–Ogur syndrome[3] and Bowen–Armstrong syndrome,[4] is a type of congenital ectodermal dysplasia syndrome. The syndrome is rel... | Rosselli–Gulienetti syndrome | c0796139 | 8,304 | wikipedia | https://en.wikipedia.org/wiki/Rosselli%E2%80%93Gulienetti_syndrome | 2021-01-18T19:00:15 | {"mesh": ["C563117"], "umls": ["C0796139"], "orphanet": ["90339"], "wikidata": ["Q7369769"]} |
Food intolerances
SpecialtyGastroenterology, immunology
Food intolerance is a detrimental reaction, often delayed, to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems, but generally refers to reactions other than food allergy. Food hy... | Food intolerance | c0149696 | 8,305 | wikipedia | https://en.wikipedia.org/wiki/Food_intolerance | 2021-01-18T18:45:10 | {"mesh": ["D000073923"], "icd-9": ["V69.1"], "icd-10": ["K90.4", "Z71.3"], "wikidata": ["Q1727229"]} |
A number sign (#) is used with this entry because of evidence that Seckel syndrome-8 (SCKL8) is caused by homozygous mutation in the DNA2 gene (601810) on chromosome 10q21. One such family has been reported.
Description
Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth reta... | SECKEL SYNDROME 8 | c0265202 | 8,306 | omim | https://www.omim.org/entry/615807 | 2019-09-22T15:51:03 | {"doid": ["0070009"], "omim": ["615807"], "orphanet": ["808"]} |
A number sign (#) is used with this entry because UV-sensitive syndrome-3 (UVSS3) can be caused by homozygous mutation in the UVSSA gene (614632) on chromosome 4p16.
Description
UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without... | UV-SENSITIVE SYNDROME 3 | c1833561 | 8,307 | omim | https://www.omim.org/entry/614640 | 2019-09-22T15:54:38 | {"doid": ["0060240"], "mesh": ["C563466"], "omim": ["614640"], "orphanet": ["178338"]} |
Torlontano et al. (1979) suggested that hereditary elliptocytosis (HE) falls into four categories: (1) HE without clinical hemolysis; (2) HE with hemolysis and sometimes anemia; (3) hereditary hemolytic ovalocytosis (166900); and (4) defective erythropoiesis and incomplete response to splenectomy. They studied 4 fami... | OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS | c1833689 | 8,308 | omim | https://www.omim.org/entry/166910 | 2019-09-22T16:36:49 | {"mesh": ["C563479"], "omim": ["166910"]} |
Poikiloderma with neutropenia (PN) is a disorder that mainly affects the skin and the immune system. This condition begins with a bumpy rash that usually appears between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades, and the affected chil... | Poikiloderma with neutropenia | c1858723 | 8,309 | medlineplus | https://medlineplus.gov/genetics/condition/poikiloderma-with-neutropenia/ | 2021-01-27T08:25:14 | {"gard": ["4085"], "mesh": ["C565820"], "omim": ["604173"], "synonyms": []} |
Cytomegalovirus colitis
Other namesCMV colitis
Micrograph of CMV colitis. H&E stain.
SpecialtyInfectious disease
Cytomegalovirus colitis, also known as CMV colitis, is an inflammation of the colon.
## Contents
* 1 Causes
* 1.1 Risk factors
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 Refere... | Cytomegalovirus colitis | c0341335 | 8,310 | wikipedia | https://en.wikipedia.org/wiki/Cytomegalovirus_colitis | 2021-01-18T18:56:05 | {"wikidata": ["Q5201361"]} |
Thymus hyperplasia
Other namesThymic hyperplasia
SpecialtyImmunology
Thymus hyperplasia refers to an enlargement ("hyperplasia") of the thymus.[1]
It is not always a disease state. The size of the thymus usually peaks during adolescence and atrophies in the following decades. Before the immune function ... | Thymus hyperplasia | c0040115 | 8,311 | wikipedia | https://en.wikipedia.org/wiki/Thymus_hyperplasia | 2021-01-18T18:46:04 | {"mesh": ["D013952"], "umls": ["C0040115"], "icd-9": ["254.0"], "icd-10": ["E32.0"], "wikidata": ["Q7799652"]} |
A number sign (#) is used with this entry because of evidence that craniofrontonasal syndrome (CFNS) is caused by mutation in the EFNB1 gene (300035) on chromosome Xq13.
Description
Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females... | CRANIOFRONTONASAL SYNDROME | c0220767 | 8,312 | omim | https://www.omim.org/entry/304110 | 2019-09-22T16:18:28 | {"doid": ["14737"], "mesh": ["C536456"], "omim": ["304110"], "orphanet": ["1520"], "synonyms": ["Alternative titles", "CRANIOFRONTONASAL DYSPLASIA", "CRANIOFRONTONASAL DYSOSTOSIS"]} |
Birth at less than a specified gestational age
Preterm birth
Other namesPremature birth, preemies, premmies
Intubated preterm baby in an incubator
SpecialtyNeonatology, Pediatrics, Obstetrics
SymptomsBirth of a baby at younger than 37 weeks' gestational age[1]
ComplicationsCerebral palsy, delays in develop... | Preterm birth | c0151526 | 8,313 | wikipedia | https://en.wikipedia.org/wiki/Preterm_birth | 2021-01-18T19:08:33 | {"mesh": ["D047928"], "icd-9": ["765", "644"], "icd-10": ["O60.1"], "wikidata": ["Q625506"]} |
Ogden syndrome
Other namesPremature aging appearance-developmental delay-cardiac arrhythmia syndrome, N-terminal acetyltransferase deficiency
Ogden Syndrome, also known as N-terminal acetyltransferase deficiency (NATD),[1] is an X-linked disorder of infancy comprising a distinct combination of distinctive ... | Ogden syndrome | c3275447 | 8,314 | wikipedia | https://en.wikipedia.org/wiki/Ogden_syndrome | 2021-01-18T18:46:36 | {"umls": ["C3275447"], "orphanet": ["276432"], "wikidata": ["Q17144188"]} |
Poisoning caused by mercury chemicals
For the song by Graham Parker, see Mercury Poisoning.
Mercury poisoning
Other namesMercury toxicity, mercury overdose, mercury intoxication, hydrargyria, mercurialism
The bulb of a mercury-in-glass thermometer
SpecialtyToxicology
SymptomsMuscle weakness, poor coordi... | Mercury poisoning | c0025427 | 8,315 | wikipedia | https://en.wikipedia.org/wiki/Mercury_poisoning | 2021-01-18T18:37:38 | {"gard": ["7021"], "mesh": ["D008630"], "umls": ["C0025427"], "icd-9": ["985.0"], "icd-10": ["T56.1"], "orphanet": ["330021"], "wikidata": ["Q408089"]} |
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.
... | X-linked intellectual disability-plagiocephaly syndrome | c2931516 | 8,316 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2898 | 2021-01-23T17:23:56 | {"gard": ["2765"], "mesh": ["C537512"], "omim": ["300064"], "umls": ["C2931516"], "icd-10": ["Q87.0"], "synonyms": ["Hyde Forster-McCarthy-Berry syndrome"]} |
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such ... | Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome | c1858420 | 8,317 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228190 | 2021-01-23T17:22:46 | {"mesh": ["C565782"], "omim": ["604381"], "umls": ["C1858420"], "icd-10": ["Q87.2"], "synonyms": ["Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome"]} |
A number sign (#) is used with this entry because selective complement component C1s deficiency can be caused by homozygous mutation in the C1S gene (120580) on chromosome 12p13.
Clinical Features
Inoue et al. (1998) reported a patient with a systemic lupus erythematosus-like syndrome and chronic glomerulonephritis... | COMPLEMENT COMPONENT C1s DEFICIENCY | c3151078 | 8,318 | omim | https://www.omim.org/entry/613783 | 2019-09-22T15:57:32 | {"mesh": ["C565170"], "omim": ["613783"], "orphanet": ["169147"], "synonyms": ["Immunodeficiency due to C1, C4, or C2 component complement deficiency", "Alternative titles", "Immunodeficiency due to an early component of complement deficiency", "C1s DEFICIENCY"]} |
A number sign (#) is used with this entry because of evidence that Shukla-Vernon syndrome (SHUVER) is caused by hemizygous mutation in the BCORL1 gene (300688) on chromosome Xq25.
Description
Shukla-Vernon syndrome (SHUVER) is an X-linked recessive neurodevelopmental disorder characterized by global developmental d... | SHUKLA-VERNON SYNDROME | None | 8,319 | omim | https://www.omim.org/entry/301029 | 2019-09-22T16:18:52 | {"omim": ["301029"]} |
Fear or disgust of objects with irregular patterns of holes or bumps
The holes in lotus seedheads elicit feelings of discomfort or repulsion in some people.[1][2]
Trypophobia is an aversion to the sight of irregular patterns or clusters of small holes or bumps.[3][4] It is not officially recognized as a mental diso... | Trypophobia | None | 8,320 | wikipedia | https://en.wikipedia.org/wiki/Trypophobia | 2021-01-18T18:51:16 | {"wikidata": ["Q560107"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-55 (RP55) is caused by homozygous mutation in the ARL6 gene (608845) on chromosome 3q11. One such family has been reported.
Mutation in the ARL6 gene can also cause a form of Bardet-Biedl syndrome (BBS3; see 209900), in which... | RETINITIS PIGMENTOSA 55 | c0035334 | 8,321 | omim | https://www.omim.org/entry/613575 | 2019-09-22T15:58:16 | {"doid": ["0110370"], "mesh": ["D012174"], "omim": ["613575"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
In medicine, a stinger,[1][2] also called a burner or nerve pinch injury, is a neurological injury suffered by athletes, mostly in high-contact sports such as ice hockey, rugby, American football, and wrestling. The spine injury is characterized by a shooting or stinging pain that travels down one arm, followed by nu... | Stinger (medicine) | None | 8,322 | wikipedia | https://en.wikipedia.org/wiki/Stinger_(medicine) | 2021-01-18T18:55:05 | {"icd-10": ["S14.3"], "wikidata": ["Q7617424"]} |
A number sign (#) is used with this entry because of evidence that microvillus inclusion disease is caused by homozygous or compound heterozygous mutation in the MYO5B (606540) gene on chromosome 18q21.
Description
Microvillus inclusion disease (MVID) is characterized by onset of intractable life-threatening watery... | DIARRHEA 2, WITH MICROVILLUS ATROPHY | c0341306 | 8,323 | omim | https://www.omim.org/entry/251850 | 2019-09-22T16:25:12 | {"doid": ["0060775"], "mesh": ["C537470"], "omim": ["251850"], "orphanet": ["2290"], "synonyms": ["Alternative titles", "MICROVILLUS INCLUSION DISEASE", "MICROVILLUS ATROPHY, CONGENITAL", "DAVIDSON DISEASE", "CONGENITAL FAMILIAL PROTRACTED DIARRHEA WITH ENTEROCYTE BRUSH-BORDER ABNORMALITIES", "INTRACTABLE DIARRHEA OF I... |
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
## Epidemiology
Prevalence is estimated to be 1-2 in 100,000 with significa... | Spinocerebellar ataxia type 1 | c0752120 | 8,324 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98755 | 2021-01-23T17:31:54 | {"gard": ["4071"], "mesh": ["D020754"], "omim": ["164400"], "umls": ["C0752120"], "icd-10": ["G11.8"], "synonyms": ["SCA1"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant spastic paraplegia-73 (SPG73) is caused by heterozygous mutation in the CPT1C gene (608846) on chromosome 19q13. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of a... | SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT | c4225387 | 8,325 | omim | https://www.omim.org/entry/616282 | 2019-09-22T15:49:25 | {"doid": ["0110818"], "omim": ["616282"], "orphanet": ["444099"], "synonyms": ["SPG73"]} |
This article needs to be updated. Please update this article to reflect recent events or newly available information. (March 2019)
Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally. To be considered a primary immunodeficiency (PID), the ca... | Primary immunodeficiency | c0021051 | 8,326 | wikipedia | https://en.wikipedia.org/wiki/Primary_immunodeficiency | 2021-01-18T18:28:15 | {"mesh": ["D007153", "D000081207"], "umls": ["C0021051"], "orphanet": ["101997"], "wikidata": ["Q3043160"]} |
Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.
## Epidemiology
FAP has a birth incidence of about 1/8,300, manifests equally in both sexes, and accounts for less than 1% of colorectal cancer ... | Familial adenomatous polyposis | c0032580 | 8,327 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=733 | 2021-01-23T19:05:07 | {"gard": ["6408"], "mesh": ["D011125"], "omim": ["175100"], "umls": ["C0032580"], "icd-10": ["D12.6"], "synonyms": ["Colorectal adenomatous polyposis", "FAP", "Familial polyposis coli"]} |
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), ass... | Mitochondrial DNA depletion syndrome, hepatocerebrorenal form | c1849096 | 8,328 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363534 | 2021-01-23T17:19:13 | {"mesh": ["C535523"], "omim": ["271245"], "icd-10": ["E88.8"], "synonyms": ["mtDNA depletion syndrome, hepatocerebrorenal form"]} |
Foster Kennedy syndrome
Other namesGowers–Paton–Kennedy syndrome, Kennedy's phenomenon, Kennedy's syndrome
Frontal lobe (on the right)
SpecialtyNeurology
Foster Kennedy syndrome is a constellation of findings associated with tumors of the frontal lobe.[1]
Although Foster Kennedy syndrome is sometimes call... | Foster Kennedy syndrome | c0152112 | 8,329 | wikipedia | https://en.wikipedia.org/wiki/Foster_Kennedy_syndrome | 2021-01-18T18:54:43 | {"mesh": ["D009901"], "umls": ["C0152112"], "wikidata": ["Q751261"]} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 6q.
Description
The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well ... | CHROMOSOME 6q11-q14 DELETION SYNDROME | c3150790 | 8,330 | omim | https://www.omim.org/entry/613544 | 2019-09-22T15:58:20 | {"omim": ["613544"]} |
A number sign (#) is used with this entry because of evidence that fast-channel congenital myasthenic syndrome-3B (CMS3B) is caused by homozygous or compound heterozygous mutation in the CHRND gene (100720) on chromosome 2q37.
Mutation in the CHRND gene can also cause slow-channel congenital myasthenic syndrome (CMS... | MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL | c0751882 | 8,331 | omim | https://www.omim.org/entry/616322 | 2019-09-22T15:49:13 | {"doid": ["0110665"], "mesh": ["D020294"], "omim": ["616322"], "orphanet": ["98913", "590"], "synonyms": [], "genereviews": ["NBK1168"]} |
Mastocytosis
Other namesClonal bone marrow disorder
Micrograph of mastocytosis. Skin biopsy. H&E stain.
SpecialtyOncology, allergology, hematology
Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused by the accumulation of functionally defective mast cells... | Mastocytosis | c0024899 | 8,332 | wikipedia | https://en.wikipedia.org/wiki/Mastocytosis | 2021-01-18T18:55:03 | {"gard": ["6987"], "mesh": ["D008415"], "umls": ["C0024899"], "icd-9": ["202.6", "757.33"], "orphanet": ["98292"], "wikidata": ["Q112670"]} |
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connec... | High myopia-sensorineural deafness syndrome | c3806275 | 8,333 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363396 | 2021-01-23T17:40:27 | {"gard": ["12844"], "omim": ["221200"], "icd-10": ["H90.5"], "synonyms": ["High myopia-sensorineural hearing loss syndrome"]} |
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
## Epidemiology
To date, fewer than 30 unrelated gen... | Autosomal recessive sideroblastic anemia | c4225428 | 8,334 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=260305 | 2021-01-23T17:18:15 | {"omim": ["182170", "205950"], "icd-10": ["D64.0"], "synonyms": ["ARSA", "Congenital sideroblastic anemia"]} |
Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects,... | Dobrow syndrome | None | 8,335 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3262 | 2021-01-23T17:58:17 | {"gard": ["5092"], "synonyms": ["Syngnathia-multiple anomalies syndrome"]} |
A number sign (#) is used with this entry because myoclonic epilepsy of Unverricht and Lundborg (ULD), also known as progressive myoclonic epilepsy-1A (EPM1A), is caused by mutation in the cystatin B gene (CSTB; 601145) on chromosome 21q22.
Description
Myoclonic epilepsy of Unverricht and Lundborg is an autosomal r... | MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG | c0751785 | 8,336 | omim | https://www.omim.org/entry/254800 | 2019-09-22T16:24:39 | {"doid": ["3535"], "mesh": ["D020194"], "omim": ["254800"], "orphanet": ["308"], "synonyms": ["Alternative titles", "ULD", "EPILEPSY, PROGRESSIVE MYOCLONIC, 1A", "EPILEPSY, PROGRESSIVE MYOCLONIC, 1", "PROGRESSIVE MYOCLONIC EPILEPSY", "BALTIC MYOCLONIC EPILEPSY"], "genereviews": ["NBK1142"]} |
natural fear typical of most mammals
For other uses, see Fear of falling (disambiguation).
530 feet above the streets of Calgary
The fear of falling (FOF), also referred to as basophobia (or basiphobia), is a natural fear and is typical of most humans and mammals, in varying degrees of extremity. It differs from a... | Fear of falling | c0877040 | 8,337 | wikipedia | https://en.wikipedia.org/wiki/Fear_of_falling | 2021-01-18T18:36:08 | {"umls": ["C0877040"], "wikidata": ["Q5439393"]} |
Florida keratopathy, also known as Florida spots, is an eye condition characterized by the presence of multiple spots within both corneas.[1] It is most commonly seen in dogs and cats, but is also rarely seen in horses and birds.[2] The disease is found in the southeastern parts of the United States.[2] In other part... | Florida keratopathy | c4523781 | 8,338 | wikipedia | https://en.wikipedia.org/wiki/Florida_keratopathy | 2021-01-18T18:36:04 | {"wikidata": ["Q3201122"]} |
Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly... | Heart-hand syndrome | c0265264 | 8,339 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228184 | 2021-01-23T18:24:29 | {"mesh": ["C535326"], "umls": ["C0265264"], "icd-10": ["Q87.2"], "synonyms": ["Atriodigital dysplasia"]} |
A number sign (#) is used with this entry because of evidence that leukoencephalopathy with ataxia (LKPAT) is caused by homozygous or compound heterozygous mutation in the CLCN2 gene (600570) on chromosome 3q27.
Description
Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a charact... | LEUKOENCEPHALOPATHY WITH ATAXIA | c3810242 | 8,340 | omim | https://www.omim.org/entry/615651 | 2019-09-22T15:51:21 | {"omim": ["615651"], "orphanet": ["363540"], "synonyms": [], "genereviews": ["NBK326661"]} |
A number sign (#) is used with this entry because of evidence that premature ovarian failure-10 (POF10) is caused by homozygous mutation in the MCM8 gene (608187) on chromosome 20p.
Description
Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian ... | PREMATURE OVARIAN FAILURE 10 | c2752067 | 8,341 | omim | https://www.omim.org/entry/612885 | 2019-09-22T16:00:24 | {"omim": ["612885"]} |
A number sign (#) is used with this entry because Farber lipogranulomatosis (FRBRL) is caused by homozygous or compound heterozygous mutation in the gene encoding acid ceramidase (ASAH1; 613468) on chromosome 8p.
Description
Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterize... | FARBER LIPOGRANULOMATOSIS | c0268255 | 8,342 | omim | https://www.omim.org/entry/228000 | 2019-09-22T16:27:57 | {"doid": ["0050464"], "mesh": ["D055577"], "omim": ["228000"], "orphanet": ["333"], "synonyms": ["Alternative titles", "FARBER DISEASE", "CERAMIDASE DEFICIENCY", "ACID CERAMIDASE DEFICIENCY", "AC DEFICIENCY", "N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY"], "genereviews": ["NBK488189"]} |
Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typi... | Lysinuric protein intolerance | c0268647 | 8,343 | medlineplus | https://medlineplus.gov/genetics/condition/lysinuric-protein-intolerance/ | 2021-01-27T08:24:45 | {"gard": ["3335"], "mesh": ["C562687"], "omim": ["222700"], "synonyms": []} |
Not to be confused with Allergies to cats.
See also: Cat health § Food allergy
A cat showing extreme signs of pruritus.
Cats exposed to allergens may develop allergies or allergic reactions. Allergies tend to become evident and intensify over extended periods of time and can take years to develop.[1] Some allergic... | Allergies in cats | None | 8,344 | wikipedia | https://en.wikipedia.org/wiki/Allergies_in_cats | 2021-01-18T18:57:44 | {"wikidata": ["Q48801082"]} |
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time.
MPAN commonly begins with difficulty walking. As the condition progresses, affected individuals usually develop ot... | Mitochondrial membrane protein-associated neurodegeneration | c3280371 | 8,345 | medlineplus | https://medlineplus.gov/genetics/condition/mitochondrial-membrane-protein-associated-neurodegeneration/ | 2021-01-27T08:25:08 | {"gard": ["12569"], "omim": ["614298"], "synonyms": []} |
Amobarbital normally undergoes two hydroxylations, leading to 3-prime-hydroxyamobarbital (C-OH) and N-hydroxyamobarbital (N-OH). Kalow et al. (1977) described a kindred in which 2 mothers who were identical twins showed a gross deficiency of N-OH in the urine. Family data suggested that the twins were homozygous for ... | AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF | c1859816 | 8,346 | omim | https://www.omim.org/entry/204800 | 2019-09-22T16:31:08 | {"mesh": ["C565959"], "omim": ["204800"]} |
This condition must be distinguished from myotonia congenita and from the Debre-Semelaigne syndrome of congenital hypothyroidism. Poch et al. (1971) described a well-documented family with male-to-male transmission. Striking hypertrophy of the calf muscles and less constantly of the masseter muscles was found.
Mu... | HYPERTROPHIA MUSCULORUM VERA | c1840361 | 8,347 | omim | https://www.omim.org/entry/145800 | 2019-09-22T16:39:46 | {"mesh": ["C564152"], "omim": ["145800"]} |
Degloving
A Morel-Lavallée lesion is a closed traumatic soft-tissue degloving injury, caused by separation of the hypodermis from the underlying fascia.[1] It most frequently occurs in the peritrochanteric region along the proximal lateral thigh,[1] such as in this CT scan.
A degloving injury is a type of avul... | Degloving | c0433122 | 8,348 | wikipedia | https://en.wikipedia.org/wiki/Degloving | 2021-01-18T19:03:11 | {"mesh": ["D000069836"], "umls": ["C0433122"], "wikidata": ["Q786854"]} |
Variant Creutzfeldt-Jakob disease (vCJD) is a type of Creutzfeldt-Jakob disease (CJD) characterized by early psychiatric symptoms and cognitive decline. All forms of CJD belong to a rare family of progressive neurodegenerative disorders that affect both humans and animals, called prion diseases. The term "prion" ... | Variant Creutzfeldt-Jakob disease | c0376329 | 8,349 | gard | https://rarediseases.info.nih.gov/diseases/9550/variant-creutzfeldt-jakob-disease | 2021-01-18T17:57:11 | {"mesh": ["D007562"], "umls": ["C0376329"], "synonyms": ["Variant Creutzfeldt-Jacob disease", "VCJD", "Variant CJD", "New variant of CJD", "Nv-CJD"]} |
A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-ar... | Fatty acyl-CoA reductase 1 deficiency | c4015344 | 8,350 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=438178 | 2021-01-23T18:39:16 | {"omim": ["616154"], "icd-10": ["E71.3"], "synonyms": ["FAR1 deficiency", "PFCRD", "Peroxisomal fatty acyl-CoA reductase 1 disorder"]} |
Pacman dysplasia
Other namesEpiphyseal stippling with osteoclastic hyperplasia
Pacman dysplasia is inherited in an autosomal recessive manner
Pacman dysplasia is a lethal autosomal recessive skeletal dysplasia. The dysplasia is present during fetal development.[1]
## References[edit]
1. ^ http://www.omim... | Pacman dysplasia | c1833676 | 8,351 | wikipedia | https://en.wikipedia.org/wiki/Pacman_dysplasia | 2021-01-18T19:04:12 | {"gard": ["4189"], "mesh": ["C538095"], "umls": ["C1833676"], "orphanet": ["1952"], "wikidata": ["Q7123066"]} |
Manganese poisoning
Manganism
SpecialtyOccupational medicine
Manganism or manganese poisoning is a toxic condition resulting from chronic exposure to manganese.[1] It was first identified in 1837 by James Couper.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
... | Manganism | c0677050 | 8,352 | wikipedia | https://en.wikipedia.org/wiki/Manganism | 2021-01-18T18:39:50 | {"mesh": ["D020149"], "umls": ["C0677050"], "icd-9": ["985.2"], "icd-10": ["T57.2"], "orphanet": ["306682"], "wikidata": ["Q2480013"]} |
A number sign (#) is used with this entry because of evidence that central precocious puberty-2 (CPPB2) is caused by heterozygous mutation on the paternal allele of the MKRN3 gene (603856) on chromosome 15q11.
Description
Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-depend... | PRECOCIOUS PUBERTY, CENTRAL, 2 | c0342543 | 8,353 | omim | https://www.omim.org/entry/615346 | 2019-09-22T15:52:29 | {"mesh": ["D011629"], "omim": ["615346"], "orphanet": ["759"]} |
Benign hyperplasia of fibrous connective tissue
Epulis fissuratum
Other namesInflammatory fibrous hyperplasia,[1] Denture-induced fibrous inflammatory hyperplasia,[2] Denture injury tumor,[1] Denture epulis,[1] Denture induced granuloma,[3] and Granuloma fissuratum[4]:808)
Epulis fissuratum is a benign hyperp... | Epulis fissuratum | c0399495 | 8,354 | wikipedia | https://en.wikipedia.org/wiki/Epulis_fissuratum | 2021-01-18T18:43:14 | {"umls": ["C0399495"], "wikidata": ["Q5384044"]} |
Prevalence of HIV/AIDS in Africa, total (% of population ages 15–49), in 2011 (World Bank)
over 15%
5-15%
2-5%
1-2%
0.5-1%
0.1-0.5%
not available
HIV/AIDS originated in Africa in the early 20th century and is a major public health concern and cause of death in many African countries. AIDS rates vary d... | HIV/AIDS in Africa | None | 8,355 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Africa | 2021-01-18T19:02:58 | {"wikidata": ["Q1358589"]} |
A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.
## Epidemiology
Exact prevalence is unknown. To... | Adult intestinal botulism | c4289991 | 8,356 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178487 | 2021-01-23T18:16:50 | {"icd-10": ["A05.1"], "synonyms": ["Adult intestinal colonization botulism", "Adult intestinal toxemia botulism", "Adult intestinal toxin-mediated botulism", "Infant-like botulism"]} |
A number sign (#) is used with this entry because of evidence that hypomyelinating leukodystrophy-8 (HLD8) is caused by compound heterozygous mutation in the POLR3B gene (614366) on chromosome 12q23.
Description
Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early ch... | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM | c2676243 | 8,357 | omim | https://www.omim.org/entry/614381 | 2019-09-22T15:55:27 | {"doid": ["0060797"], "mesh": ["C567313"], "omim": ["614381"], "orphanet": ["88637"], "genereviews": ["NBK99167", "NBK1334"]} |
PIK3CA-related overgrowth spectrum (PROS) is a group of rare disorders that cause overgrowth of parts of the body, due to mutations in the PIK3CA gene. Specific disorders in this spectrum include:
* Fibroadipose hyperplasia (also called fibroadipose overgrowth)
* CLOVES syndrome
* Megalencephaly-capillary ma... | PIK3CA-related overgrowth spectrum | None | 8,358 | gard | https://rarediseases.info.nih.gov/diseases/12182/pik3ca-related-overgrowth-spectrum | 2021-01-18T17:58:19 | {"synonyms": ["PIK3CA-associated segmental overgrowth"]} |
Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P... | Immunodeficiency with thymoma | c0221027 | 8,359 | gard | https://rarediseases.info.nih.gov/diseases/8622/immunodeficiency-with-thymoma | 2021-01-18T17:59:49 | {"umls": ["C0221027"], "orphanet": ["169105"], "synonyms": ["Thymoma-immunodeficiency syndrome", "Good syndrome"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-39 (EIEE39) is caused by homozygous mutation in the SLC25A12 gene (603667) on chromosome 2q31.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Clini... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39 | c2751855 | 8,360 | omim | https://www.omim.org/entry/612949 | 2019-09-22T16:00:12 | {"doid": ["0080349"], "mesh": ["C567847"], "omim": ["612949"], "orphanet": ["353217"], "synonyms": ["AGC1 deficiency", "HYPOMYELINATION, GLOBAL CEREBRAL", "ASPARTATE-GLUTAMATE CARRIER 1 DEFICIENCY", "Alternative titles", "Mitochondrial aspartate-glutamate carrier 1 deficiency", "AGC1 DEFICIENCY"]} |
Goblet cell carcinoid (GCC) is a rare tumor normally occurring in the appendix which displays features of both a neuroendocrine tumor and a more aggressive form of cancer known as an adenocarcinoma. It is usually diagnosed in people over the age of 50. People with this tumor may develop acute appendicitis, abdominal ... | Goblet cell carcinoid | c0205695 | 8,361 | gard | https://rarediseases.info.nih.gov/diseases/10414/goblet-cell-carcinoid | 2021-01-18T18:00:14 | {"mesh": ["D002276"], "orphanet": ["329984"], "synonyms": ["Goblet cell carcinoma", "Mucinous carcinoid", "GCC", "Goblet cell adenocarcinoid", "Goblet cell tumor"]} |
A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women be... | Fowler urethral sphincter dysfunction syndrome | c2931462 | 8,362 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2795 | 2021-01-23T18:04:49 | {"gard": ["2365"], "mesh": ["C537271"], "umls": ["C2931462"], "synonyms": ["Fowler syndrome", "Fowler-Christmas-Chapple syndrome"]} |
An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no f... | Ankyloblepharon filiforme adnatum-imperforate anus syndrome | None | 8,363 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1074 | 2021-01-23T17:33:07 | {"gard": ["697"], "icd-10": ["Q87.8"], "synonyms": ["Aughton-Hufnagle syndrome"]} |
Not to be confused with Ectropion.
Cervical Ectropion
Other namesCervical eversion
Cervical ectropion
SpecialtyGynecology
Cervical ectropion is a condition in which the cells from the 'inside' of the cervical canal, known as glandular cells (or columnar epithelium), are present on the 'outside' of the vag... | Cervical ectropion | c0269189 | 8,364 | wikipedia | https://en.wikipedia.org/wiki/Cervical_ectropion | 2021-01-18T18:40:02 | {"mesh": ["D002579"], "umls": ["C0269189", "C0007869"], "icd-10": ["N86"], "wikidata": ["Q720523"]} |
Stratton-Parker Syndrome
Other namesMullerian aplasia with hypoplastic thumbs
SpecialtyOrthopedic
Michels Caskey syndrome is a rare disorder that combines spinal and skeletal abnormalities, especially of the thumbs, with abnormal or absent female reproductive organs. Examples include the absence of a cer... | Michels Caskey syndrome | c2931537 | 8,365 | wikipedia | https://en.wikipedia.org/wiki/Michels_Caskey_syndrome | 2021-01-18T18:33:25 | {"gard": ["3590"], "mesh": ["C537576"], "umls": ["C2931537"], "icd-9": [], "icd-10": [], "wikidata": ["Q6837318"]} |
L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
## Epidemiology
Less than 20 patients have been described with AGAT deficiency to date.
## Clinical description
AGAT de... | L-Arginine:glycine amidinotransferase deficiency | c2675179 | 8,366 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35704 | 2021-01-23T18:20:02 | {"gard": ["10323"], "mesh": ["C567192"], "omim": ["612718"], "umls": ["C2675179"], "icd-10": ["E72.8"], "synonyms": ["AGAT deficiency"]} |
Macrozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).
In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male's genetic information ... | Macrozoospermia | c0403812 | 8,367 | medlineplus | https://medlineplus.gov/genetics/condition/macrozoospermia/ | 2021-01-27T08:25:09 | {"gard": ["12385"], "mesh": ["C562903"], "omim": ["243060"], "synonyms": []} |
A number sign (#) is used with this entry because Bloom syndrome (BLM), also referred to here as microcephaly, growth restriction, and increased sister chromatid exchange-1 (MGRISCE1), is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein-like-3 (RECQL3; 604610) on c... | BLOOM SYNDROME | c0005859 | 8,368 | omim | https://www.omim.org/entry/210900 | 2019-09-22T16:30:22 | {"doid": ["2717"], "mesh": ["D001816"], "omim": ["210900"], "orphanet": ["125"], "synonyms": ["Alternative titles", "BS", "MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1"], "genereviews": ["NBK1294", "NBK1398"]} |
A number sign (#) is used with this entry because of evidence that Heimler syndrome-1 (HMLR1) is caused by homozygous or compound heterozygous mutations in the PEX1 gene (602136) on chromosome 7q21.
Description
Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spect... | HEIMLER SYNDROME 1 | c1856186 | 8,369 | omim | https://www.omim.org/entry/234580 | 2019-09-22T16:27:22 | {"mesh": ["C535994"], "omim": ["234580"], "orphanet": ["3220"], "synonyms": ["Alternative titles", "HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS", "PEROXISOME BIOGENESIS DISORDER 1C"]} |
A number sign (#) is used with this entry because of evidence that familial adenomatous polyposis-4 (FAP4) is caused by compound heterozygous mutation in the MSH3 gene (600887) on chromosome 5q11.
Description
Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by t... | FAMILIAL ADENOMATOUS POLYPOSIS 4 | c4310719 | 8,370 | omim | https://www.omim.org/entry/617100 | 2019-09-22T15:46:55 | {"doid": ["0080412"], "omim": ["617100"], "orphanet": ["480536"], "synonyms": ["MSH3-related AFAP", "MSH3-related attenuated FAP", "MSH3-related attenuated familial polyposis coli"]} |
Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a person’s immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency can’t get rid of germs or protect themselves from new germs as well as they should. Primary... | Immunodeficiency with hyper IgM type 1 | c0398689 | 8,371 | gard | https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1 | 2021-01-18T17:59:49 | {"mesh": ["D053307"], "omim": ["308230", "605258", "606843", "608106", "608184"], "orphanet": ["101088"], "synonyms": ["X-linked hyper IgM syndrome", "Hyper IgM immunodeficiency, x-linked", "Hyper IgM syndrome", "Hyper IgM syndrome 1", "XHIM", "HIGM", "IHIS", "HIGM1"]} |
For the medical journal, see Childhood Obesity (journal).
Childhood obesity
Children with varying degrees of body fat
SpecialtyEndocrinology, pediatrics, bariatrics
Part of a series on
Human body weight
General concepts
* Obesity (Epidemiology)
* Overweight
* Underweight
* Body shape
* Weight... | Childhood obesity | c2362324 | 8,372 | wikipedia | https://en.wikipedia.org/wiki/Childhood_obesity | 2021-01-18T18:51:39 | {"mesh": ["D063766"], "icd-9": ["278"], "icd-10": ["E66"], "wikidata": ["Q3241451"]} |
Type of hemorrhage
Cephalhematoma
Other namesCephalhematoma
Newborn scalp haematomata
SpecialtyPediatrics
A cephalohaematoma is a hemorrhage of blood between the skull and the periosteum of any age human, including a newborn baby secondary to rupture of blood vessels crossing the periosteum. Because t... | Cephalohematoma | c0007722 | 8,373 | wikipedia | https://en.wikipedia.org/wiki/Cephalohematoma | 2021-01-18T18:48:48 | {"umls": ["C0007722"], "icd-9": ["767.19"], "icd-10": ["P12"], "wikidata": ["Q419938"]} |
Chronic intestinal pseudo-obstruction (CIPO) is a rare disease characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contraction... | Chronic intestinal pseudoobstruction | c0238062 | 8,374 | gard | https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction | 2021-01-18T18:01:18 | {"orphanet": ["2978"], "synonyms": ["CIPO"]} |
A number sign (#) is used with this entry because the slow and fast acetylation phenotypes are due to polymorphisms in the gene encoding N-acetyltransferase-2 (NAT2; 612182).
Clinical Features
The antituberculosis agent isoniazid (INH) is rendered therapeutically inactive by acetylation. Most or perhaps all populat... | ACETYLATION, SLOW | c2673470 | 8,375 | omim | https://www.omim.org/entry/243400 | 2019-09-22T16:26:16 | {"omim": ["243400"], "synonyms": ["Alternative titles", "SLOW ACETYLATOR PHENOTYPE", "ISONIAZID INACTIVATION, SLOW", "INH INACTIVATION, SLOW"]} |
Poikiloderma
People with varying manifestations of poikiloderma
SpecialtyDermatology
Poikiloderma is a skin condition that consists of areas of hypopigmentation, hyperpigmentation, telangiectasias and atrophy. Poikiloderma of Civatte is most frequently seen on the chest or the neck, characterized by red colo... | Poikiloderma | c0392777 | 8,376 | wikipedia | https://en.wikipedia.org/wiki/Poikiloderma | 2021-01-18T18:59:17 | {"wikidata": ["Q1307866"]} |
Central neurocytoma
Axial T1-weighted gadolinium-enhanced MRI image showing an enhancing mass with cystic changes consistent with central neurocytoma in the right lateral ventricle.
SpecialtyOncology, neurosurgery
Central neurocytoma (CNC) is an extremely rare, ordinarily benign intraventricular brain tu... | Central neurocytoma | c0206719 | 8,377 | wikipedia | https://en.wikipedia.org/wiki/Central_neurocytoma | 2021-01-18T18:28:56 | {"gard": ["10641"], "mesh": ["D018306"], "umls": ["C0206719"], "orphanet": ["73256"], "wikidata": ["Q5062123"]} |
Sebaceoma
Sebaceous epithelioma
SpecialtyDermatology
Sebaceoma (also known as a "sebaceous epithelioma") is a cutaneous condition that appears as a yellow or orange papule.[1]:662
## See also[edit]
* Sebaceous carcinoma
* Sebaceous adenoma
* Skin lesion
## References[edit]
1. ^ James, William... | Sebaceoma | c2939441 | 8,378 | wikipedia | https://en.wikipedia.org/wiki/Sebaceoma | 2021-01-18T18:34:35 | {"umls": ["C2939441", "C1275210"], "wikidata": ["Q7442318"]} |
For a discussion of the genetic heterogeneity in age at menarche, see MENAQ1 (610873).
Mapping
Perry et al. (2009) conducted a metaanalysis of 17,510 females from 8 different population-based cohorts and found significant association with rs7759938 on chromosome 6q21, within a recombination interval that includ... | MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 2 | c2752070 | 8,379 | omim | https://www.omim.org/entry/612882 | 2019-09-22T16:00:25 | {"omim": ["612882"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive primary microcephaly-23 (MCPH23) is caused by homozygous mutation in the NCAPH gene (602332) on chromosome 2q11. One such patient has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of... | MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE | c4693843 | 8,380 | omim | https://www.omim.org/entry/617985 | 2019-09-22T15:44:08 | {"omim": ["617985"]} |
Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydro... | Choroid plexus carcinoma | c0431109 | 8,381 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251899 | 2021-01-23T17:56:28 | {"gard": ["8238"], "mesh": ["C562943"], "omim": ["260500"], "umls": ["C0431109"], "icd-10": ["C71.7"]} |
Microcystic adnexal carcinoma
A microscopic view of microcystic adnexal carcinoma
SpecialtyDermatology/oncology
Microcystic adnexal carcinoma (MAC) is a rare sweat gland cancer,[1] which often appears as a yellow spot or bump in the skin. It usually occurs in the neck or head, although cases have been docume... | Microcystic adnexal carcinoma | c0346027 | 8,382 | wikipedia | https://en.wikipedia.org/wiki/Microcystic_adnexal_carcinoma | 2021-01-18T18:29:18 | {"gard": ["10438"], "umls": ["C0346027"], "wikidata": ["Q6839434"]} |
A number sign (#) is used with this entry because autosomal dominant bone marrow failure syndrome-1 (BMFS1) is caused by heterozygous mutation in the SRP72 gene (602122) on chromosome 4q12.
### Genetic Heterogeneity of Bone Marrow Failure Syndrome
See also BMFS2 (615715), caused by mutation in the ERCC6L2 gene ... | BONE MARROW FAILURE SYNDROME 1 | c3808553 | 8,383 | omim | https://www.omim.org/entry/614675 | 2019-09-22T15:54:33 | {"mesh": ["C536572"], "omim": ["614675"], "orphanet": ["314399"], "synonyms": ["Autosomal dominant aplastic anemia and myelodysplasia"]} |
Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, l... | Isolated bilateral hemispheric cerebellar hypoplasia | None | 8,384 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=269221 | 2021-01-23T17:27:38 | {"icd-10": ["Q04.3"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant hypercarotenemia and vitamin A deficiency (HCVAD) is caused by heterozygous mutation in the BCMO1 gene (BCO1; 605748) on chromosome 16q23. One such patient has been reported.
See also 277350 for possible autosomal recessive inherit... | HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT | c2676023 | 8,385 | omim | https://www.omim.org/entry/115300 | 2019-09-22T16:43:41 | {"mesh": ["C567296"], "omim": ["115300"], "orphanet": ["199285"], "synonyms": []} |
Persistent aura without infarction
SpecialtyNeurology, Neuro-ophthalmology
Differential diagnosisVisual snow
Persistent aura without infarction (PAWOI) is a little-known condition, first described under the designation prolonged migraine aura status,[1] that is not yet fully understood. PAWOI is said to be a... | Persistent aura without infarction | c2349465 | 8,386 | wikipedia | https://en.wikipedia.org/wiki/Persistent_aura_without_infarction | 2021-01-18T18:56:55 | {"umls": ["C2349465"], "icd-9": ["346.5"], "icd-10": ["G43.5"], "wikidata": ["Q7170403"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to dilated cardiomyopathy is associated with variation in the desmoglein-2 gene (DSG2; 125671).
For a phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200).
Molecular Genetics... | CARDIOMYOPATHY, DILATED, 1BB | c0340427 | 8,387 | omim | https://www.omim.org/entry/612877 | 2019-09-22T16:00:26 | {"doid": ["0110458"], "mesh": ["C536231"], "omim": ["612877"], "orphanet": ["154"], "genereviews": ["NBK1309"]} |
This article may require cleanup to meet Wikipedia's quality standards. The specific problem is: Writing style needs fixing Please help improve this article if you can. (October 2012) (Learn how and when to remove this template message)
Brain delivery trauma
Position of the child is important for normal birthi... | Birth trauma (physical) | c0005604 | 8,388 | wikipedia | https://en.wikipedia.org/wiki/Birth_trauma_(physical) | 2021-01-18T18:31:37 | {"mesh": ["D001720"], "icd-9": ["767"], "icd-10": ["P10-P15"], "wikidata": ["Q1235888"]} |
For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300.
Mapping
In an extended multiplex family, ascertained in a population-based study of early-onset AD in the northern Netherlands, Rademakers et al. (2005) obtained conclusive evidence of linkage of AD wit... | ALZHEIMER DISEASE 10 | c0276496 | 8,389 | omim | https://www.omim.org/entry/609636 | 2019-09-22T16:05:45 | {"doid": ["0110043"], "mesh": ["D000544"], "omim": ["609636"], "orphanet": ["1020"], "synonyms": ["Alternative titles", "ALZHEIMER DISEASE, FAMILIAL, 10", "AD10"]} |
A rare diving disorder caused by inhaling a mist of seawater
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Salt water aspirati... | Salt water aspiration syndrome | None | 8,390 | wikipedia | https://en.wikipedia.org/wiki/Salt_water_aspiration_syndrome | 2021-01-18T18:36:47 | {"wikidata": ["Q7406013"]} |
## Description
Intracranial berry aneurysms are saccular outpouchings of the intracranial arteries, most commonly at arterial bifurcations, characterized by arterial wall remodeling. Most cases of ruptured intracranial berry aneurysms result in a subarachnoid hemorrhage, associated with high morbidity and morta... | ANEURYSM, INTRACRANIAL BERRY, 2 | c1837894 | 8,391 | omim | https://www.omim.org/entry/608542 | 2019-09-22T16:07:40 | {"doid": ["0060228"], "mesh": ["C536360"], "omim": ["608542", "105800"], "orphanet": ["231160"], "synonyms": ["Familial berry aneurysm", "Familial intracranial saccular aneurysm"]} |
## Description
Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs (Bisceglia et al., 2010).
For a phenotypic description and a discussion of genetic heterogeneity of autosoma... | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H | c3150786 | 8,392 | omim | https://www.omim.org/entry/613530 | 2019-09-22T15:58:21 | {"doid": ["0110303"], "omim": ["613530"], "orphanet": ["238755"], "synonyms": ["LGMD1H"]} |
Ameloblastoma
Micrograph of an ameloblastoma showing the characteristic palisading and stellate reticulum. H&E stain.
SpecialtyOncology, oral and maxillofacial surgery
Ameloblastoma is a rare, benign tumor of odontogenic epithelium (ameloblasts, or outside portion, of the teeth during development) much more ... | Ameloblastoma | c0002448 | 8,393 | wikipedia | https://en.wikipedia.org/wiki/Ameloblastoma | 2021-01-18T18:32:49 | {"gard": ["5747"], "mesh": ["D000564"], "umls": ["C0002448"], "icd-9": ["213.1"], "icd-10": ["D16.5"], "orphanet": ["314419"], "wikidata": ["Q461857"]} |
Subacromial bursitis
Shoulder joint
SpecialtyRheumatology
Subacromial bursitis is a condition caused by inflammation of the bursa that separates the superior surface of the supraspinatus tendon (one of the four tendons of the rotator cuff) from the overlying coraco-acromial ligament, acromion, and coraco... | Subacromial bursitis | c0546953 | 8,394 | wikipedia | https://en.wikipedia.org/wiki/Subacromial_bursitis | 2021-01-18T18:39:44 | {"icd-9": ["726.19"], "icd-10": ["M75.5"], "wikidata": ["Q7630699"]} |
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
## Epidemiology
To date, fifteen patients have been reported.
## Clinical description
Dy... | 2q23.1 microdeletion syndrome | c1969562 | 8,395 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228402 | 2021-01-23T19:09:42 | {"gard": ["10998"], "mesh": ["C566947"], "omim": ["156200"], "icd-10": ["Q93.5"], "synonyms": ["Del(2)(q23.1)", "Monosomy 2q23.1", "Pseudo-Angelman syndrome"]} |
A number sign (#) is used with this entry because of evidence that X-linked deafness-7 (DFNX7) is caused by hemizygous mutation in the GPRASP2 gene (300969) on chromosome Xq26. One such family has been reported.
Description
DFNX7 is a congenital form of bilateral mixed or conductive hearing loss, which may be progr... | DEAFNESS, X-LINKED 7 | None | 8,396 | omim | https://www.omim.org/entry/301018 | 2019-09-22T16:19:00 | {"omim": ["301018"], "orphanet": ["500188"], "synonyms": []} |
This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.
## Epidemiology
It has been described in three newborns born to consanguineous parents.
## Clinical description
Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic car... | Hypotonia with lactic acidemia and hyperammonemia | c2673642 | 8,397 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137908 | 2021-01-23T17:16:41 | {"mesh": ["C567126"], "omim": ["611719"], "umls": ["C2673642"], "icd-10": ["E88.8"], "synonyms": ["COXPD5", "Combined oxidative phosphorylation defect type 5"]} |
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-app... | Complete androgen insensitivity syndrome | c0039585 | 8,398 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99429 | 2021-01-23T19:00:45 | {"gard": ["10597"], "mesh": ["D013734"], "omim": ["300068", "300274"], "icd-10": ["E34.5"], "synonyms": ["CAIS", "Complete androgen resistance syndrome"]} |
Fregoli delusion
SpecialtyNeuropsychiatry
The Fregoli delusion is a rare disorder in which a person holds a delusional belief that different people are in fact a single person who changes appearance or is in disguise. The syndrome may be related to a brain lesion[1][2] and is often of a paranoid nature, with t... | Fregoli delusion | None | 8,399 | wikipedia | https://en.wikipedia.org/wiki/Fregoli_delusion | 2021-01-18T18:59:37 | {"icd-9": ["297.8"], "icd-10": ["F22"], "wikidata": ["Q1453767"]} |
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