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## Clinical Features
D'Arcy et al. (1978) studied the family of a girl who between ages 8 and 11 rapidly developed hip pain and stiffness with flexion contractures and protrusio acetabuli. The mother and a brother had limitation of hip motion, while radiologic criteria for protrusio were present in the mother and 4... | PROTRUSIO ACETABULI | c0409495 | 7,000 | omim | https://www.omim.org/entry/177050 | 2019-09-22T16:35:38 | {"omim": ["177050"], "icd-10": ["M24.7"]} |
By study of mouse-human hybrid cells, Wright and Shows (1978) assigned to chromosome 10 a human gene that in combination with the murine genome induces formation of multinucleate cells in rat cell line.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Ad... | POLYKARYOCYTOSIS INDUCER | c3887935 | 7,001 | omim | https://www.omim.org/entry/174750 | 2019-09-22T16:36:01 | {"omim": ["174750"]} |
Liebenberg syndrome is a condition that involves abnormal development of the arms, resulting in characteristic arm malformations that can vary in severity. In people with this condition, bones and other tissues in the elbows, forearms, wrists, and hands have characteristics of related structures in the lower limbs. F... | Liebenberg syndrome | c1861313 | 7,002 | medlineplus | https://medlineplus.gov/genetics/condition/liebenberg-syndrome/ | 2021-01-27T08:25:09 | {"gard": ["966"], "mesh": ["C566090"], "omim": ["186550"], "synonyms": []} |
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This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to im... | Lethal yellowing | None | 7,003 | wikipedia | https://en.wikipedia.org/wiki/Lethal_yellowing | 2021-01-18T18:53:06 | {"wikidata": ["Q6533266"]} |
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This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to im... | ROSAH syndrome | c3554278 | 7,004 | wikipedia | https://en.wikipedia.org/wiki/ROSAH_syndrome | 2021-01-18T18:38:45 | {"umls": ["C3554278"], "orphanet": ["313800"], "wikidata": ["Q55784422"]} |
Postencephalitic trophic ulcer is an ulceration of the nose similar to trigeminal trophic lesions, and has been reported following epidemic encephalitis and herpes zoster of the trigeminal nerve.[1]:65
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Tim... | Postencephalitic trophic ulcer | None | 7,005 | wikipedia | https://en.wikipedia.org/wiki/Postencephalitic_trophic_ulcer | 2021-01-18T19:11:01 | {"wikidata": ["Q7234154"]} |
LIG4 syndrome
Other namesLigase IV syndrome
Person at age 12 showing dysmorphic features
LIG4 syndrome (also known as Ligase IV syndrome) is an extremely rare condition caused by mutations in the DNA Ligase IV (LIG4) gene. Some mutations in this gene are associated with a resistance against multiple myel... | LIG4 syndrome | c1847827 | 7,006 | wikipedia | https://en.wikipedia.org/wiki/LIG4_syndrome | 2021-01-18T18:30:47 | {"mesh": ["C564694"], "umls": ["C1847827"], "orphanet": ["99812"], "wikidata": ["Q6458655"]} |
Danon disease
Other namesLysosomal glycogen storage disease with normal acid maltase activity, GSD due to LAMP-2 deficiency
This condition is inherited via X-linked recessive manner
SpecialtyEndocrinology
Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder.[1] Danon disease is ... | Danon disease | c0878677 | 7,007 | wikipedia | https://en.wikipedia.org/wiki/Danon_disease | 2021-01-18T18:29:03 | {"gard": ["9730"], "mesh": ["D052120"], "umls": ["C0878677"], "icd-10": ["E74.0"], "orphanet": ["34587"], "wikidata": ["Q5220984"]} |
A number sign (#) is used with this entry because polymorphisms in several genes are believed to predispose to nicotine dependence and smoking behavior, including the gene encoding G protein-coupled receptor-51 (GPR51; 607340) on chromosome 9q22.
Li et al. (2006) found evidence of significant linkage of chromoso... | TOBACCO ADDICTION, SUSCEPTIBILITY TO | c1861063 | 7,008 | omim | https://www.omim.org/entry/188890 | 2019-09-22T16:32:31 | {"omim": ["188890"], "synonyms": ["Alternative titles", "CIGARETTE HABITUATION, SUSCEPTIBILITY TO", "SMOKING HABIT, SUSCEPTIBILITY TO", "NICOTINE DEPENDENCE, SUSCEPTIBILITY TO", "NICOTINE ADDICTION, SUSCEPTIBILITY TO", "NICOTINE DEPENDENCE, PROTECTION AGAINST"]} |
"Montezuma's revenge" and "Delhi belly" redirect here. For the film, see Delhi Belly (film). For other uses, see Montezuma's revenge (disambiguation).
stomach and intestinal infection
Travelers' diarrhea
Other namesTravellers' diarrhoea, tourist diarrhea,[1] traveler's dysentery[1]
The bacterium E. coli, the mo... | Travelers' diarrhea | c0277528 | 7,009 | wikipedia | https://en.wikipedia.org/wiki/Travelers%27_diarrhea | 2021-01-18T18:59:32 | {"icd-9": ["009.2"], "icd-10": ["A09"], "wikidata": ["Q138885"]} |
A number sign (#) is used with this entry because Robinow-Sorauf syndrome is caused by heterozygous mutation in the TWIST gene (601622.0009). Some authors (e.g., Reardon and Winter, 1994) have suggested that the disorder is not distinct, but part of the phenotypic spectrum of Saethre-Chotzen syndrome (101400), wh... | ROBINOW-SORAUF SYNDROME | c1867146 | 7,010 | omim | https://www.omim.org/entry/180750 | 2019-09-22T16:35:06 | {"mesh": ["C537183"], "omim": ["180750"], "orphanet": ["3106"], "synonyms": ["Alternative titles", "CRANIOSYNOSTOSIS-BIFID HALLUX SYNDROME", "ACROCEPHALOSYNDACTYLY, ROBINOW-SORAUF TYPE"]} |
Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently ... | Antiphospholipid syndrome | c2930802 | 7,011 | medlineplus | https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome/ | 2021-01-27T08:24:42 | {"gard": ["5824", "9820"], "mesh": ["C531622"], "omim": ["107320"], "synonyms": []} |
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with i... | Brachydactyly-elbow wrist dysplasia syndrome | c1861313 | 7,012 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1275 | 2021-01-23T18:40:16 | {"gard": ["966"], "mesh": ["C566090"], "omim": ["186550"], "icd-10": ["Q73.8"], "synonyms": ["Brachydactyly-joint dysplasia syndrome", "Liebenberg syndrome"]} |
Orphan disease
TEMPI syndrome
Other namesTelangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome
TEMPI Syndrome is an orphan disease where the patients share five characteristics from which the acronym is derived: telangiectasias, elevated erythropoie... | TEMPI syndrome | c3854394 | 7,013 | wikipedia | https://en.wikipedia.org/wiki/TEMPI_syndrome | 2021-01-18T18:50:20 | {"gard": ["10962"], "umls": ["C3854394"], "orphanet": ["284227"], "wikidata": ["Q7698379"]} |
Skin disorders are among the most common health problems in dogs, and have many causes. The condition of a dog's skin and coat are also an important indicator of its general health. Skin disorders of dogs vary from acute, self-limiting problems to chronic or long-lasting problems requiring life-time treatment. Sk... | Dog skin disorders | None | 7,014 | wikipedia | https://en.wikipedia.org/wiki/Dog_skin_disorders | 2021-01-18T19:02:08 | {"wikidata": ["Q5288286"]} |
Unilateral hearing loss
Other namesSingle-sided deafness (SSD)
SpecialtyAudiology, ear, nose, and throat
Unilateral hearing loss (UHL) is a type of hearing impairment where there is normal hearing in one ear and impaired hearing in the other ear.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 ... | Unilateral hearing loss | c2607947 | 7,015 | wikipedia | https://en.wikipedia.org/wiki/Unilateral_hearing_loss | 2021-01-18T18:50:54 | {"mesh": ["D046088"], "umls": ["C2607947"], "icd-10": ["H90.7", "H90.1", "H90.4"], "wikidata": ["Q3813334"]} |
A number sign (#) is used with this entry because autosomal dominant erythrocytosis-7 (ECYT7) can be caused by heterozygous mutation in the alpha-globin genes (HBA1, 141800 or HBA2, 141850) that result in a high oxygen affinity hemoglobin.
Description
Familial erythrocytosis-7 is characterized by an increased o... | ERYTHROCYTOSIS, FAMILIAL, 7 | c4693823 | 7,016 | omim | https://www.omim.org/entry/617981 | 2019-09-22T15:44:12 | {"omim": ["617981"], "synonyms": ["Alternative titles", "ERYTHROCYTOSIS, ALPHA-GLOBIN TYPE", "POLYCYTHEMIA, ALPHA-GLOBIN TYPE"]} |
Task-specific focal dystonia is a movement disorder that interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrol... | Task-specific focal dystonia | c1969807 | 7,017 | medlineplus | https://medlineplus.gov/genetics/condition/task-specific-focal-dystonia/ | 2021-01-27T08:25:20 | {"gard": ["6458"], "mesh": ["C566973"], "omim": ["611284"], "synonyms": []} |
Shulman et al. (1976) described a Mexican-American family in which 3 of 5 sibs had severe laryngomalacia requiring neonatal tracheostomy. Histologic studies of tracheal cartilage showed hypercellularity and tinctorial peculiarities of the matrix. The mother had experienced respiratory difficulties in the first year o... | LARYNGOMALACIA | c0345160 | 7,018 | omim | https://www.omim.org/entry/150280 | 2019-09-22T16:39:04 | {"omim": ["150280"], "orphanet": ["2373"]} |
Infectious disease
For other uses, see Scarlet fever (disambiguation).
Scarlet fever
Other namesScarlatina,[1] scarletina[2]
Strawberry tongue seen in scarlet fever
SpecialtyInfectious disease
SymptomsSore throat, fever, headaches, swollen lymph nodes, characteristic rash[1]
ComplicationsGlomerulonephriti... | Scarlet fever | c0036285 | 7,019 | wikipedia | https://en.wikipedia.org/wiki/Scarlet_fever | 2021-01-18T18:58:51 | {"mesh": ["D012541"], "umls": ["C0036285", "C0343487"], "orphanet": ["36235"], "wikidata": ["Q180266"]} |
## Description
Kantaputra mesomelic dysplasia (MMDK) is a rare, autosomal dominant skeletal disease characterized by symmetric marked shortening of the upper and lower limbs. The ulnae are very short and the radii are bowed. The distal humerus has a dumbbell shape, whereas the hands are relatively normal but sh... | MESOMELIC DYSPLASIA, KANTAPUTRA TYPE | c1835009 | 7,020 | omim | https://www.omim.org/entry/156232 | 2019-09-22T16:38:17 | {"mesh": ["C535547"], "omim": ["156232"], "orphanet": ["1836"], "synonyms": ["Alternative titles", "MDK", "MESOMELIC DYSPLASIA WITH ANKLE, CARPAL, AND TARSAL SYNOSTOSIS", "MESOMELIC DYSPLASIA, THAI TYPE"]} |
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Find sources: "Photodermatosis" – news · newspapers · books · scholar · JSTOR (December 2009) (Learn how and when to remove this template message)
... | Photodermatosis | c0920193 | 7,021 | wikipedia | https://en.wikipedia.org/wiki/Photodermatosis | 2021-01-18T18:59:49 | {"umls": ["C0920193"], "icd-10": ["L56.8"], "orphanet": ["79390"], "wikidata": ["Q2986815"]} |
A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
## Epidemiology
Prevalence is estimated at 1/250,000 worldwide, but the syndrome is more common in Sweden due to a founder effect.
## Clinical descripti... | Sjögren-Larsson syndrome | c0037231 | 7,022 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=816 | 2021-01-23T18:36:11 | {"gard": ["7654"], "mesh": ["D016111"], "omim": ["270200"], "umls": ["C0037231"], "icd-10": ["Q87.1"], "synonyms": ["Fatty acid alcohol oxidoreductase deficiency"]} |
Bacteriuria
Other namesBacteruria
Multiple rod-shaped bacteria shown between the larger white blood cells at urinary microscopy from a person with urinary tract infection.
SpecialtyEmergency medicine, Infectious disease
TypesAsymptomatic, symptomatic[1][2]
Diagnostic methodUrinalysis, urine culture[3]
Dif... | Bacteriuria | c0004659 | 7,023 | wikipedia | https://en.wikipedia.org/wiki/Bacteriuria | 2021-01-18T19:04:10 | {"mesh": ["D001437"], "umls": ["C0004659"], "wikidata": ["Q632522"]} |
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread ro... | Retinal macular dystrophy type 2 | c0339512 | 7,024 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319640 | 2021-01-23T17:57:07 | {"mesh": ["C562746"], "omim": ["608051"], "umls": ["C0339512"], "icd-10": ["H35.5"], "synonyms": ["MCDR2"]} |
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
## Epidemiology
Prevalence of clinical biotinidase deficiency (BD) is estimated t... | Biotinidase deficiency | c0220754 | 7,025 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79241 | 2021-01-23T18:50:37 | {"gard": ["894"], "mesh": ["D028921"], "omim": ["253260"], "umls": ["C0220754", "C1854698"], "icd-10": ["E53.8"], "synonyms": ["Juvenile-onset multiple carboxylase deficiency", "Late-onset multiple carboxylase deficiency"]} |
Ramos-Arroyo syndrome
Other namesCorneal anesthesia-deafness-intellectual disability syndrome
Ramos-Arroyo syndrome is inherited in an autosomal dominant manner
Ramos-Arroyo syndrome is marked by corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral senso... | Ramos-Arroyo syndrome | c2930866 | 7,026 | wikipedia | https://en.wikipedia.org/wiki/Ramos-Arroyo_syndrome | 2021-01-18T19:08:50 | {"gard": ["4636"], "mesh": ["C535286"], "umls": ["C2930866", "C1852543"], "orphanet": ["1051"], "wikidata": ["Q7289967"]} |
Paraphilic infantilism, also known as autonepiophilia,[1] psychosexual infantilism[2] and adult baby syndrome,[3] is a sexual fetish that involves role-playing a regression to an infant-like state.[4][5] Behaviors may include drinking from a bottle or wearing diapers (diaper fetishism).[3][6] Individuals may enga... | Paraphilic infantilism | None | 7,027 | wikipedia | https://en.wikipedia.org/wiki/Paraphilic_infantilism | 2021-01-18T18:30:08 | {"wikidata": ["Q181757"]} |
ATR-16 syndrome
Other namesAlpha thalassemia-intellectual disability syndrome, deletion type, Alpha thalassemia-mental retardation syndrome
Chromosome 16 is linked to this condition
ATR-16 syndrome, also called Alpha-Thalassemia-Intellectual disability syndrome is a rare disease characterized by monosomy... | ATR-16 syndrome | c0475813 | 7,028 | wikipedia | https://en.wikipedia.org/wiki/ATR-16_syndrome | 2021-01-18T19:00:46 | {"gard": ["10853"], "mesh": ["C563050"], "umls": ["C0475813"], "orphanet": ["98791"], "wikidata": ["Q3508561"]} |
Sphingolipidoses
Other namesSphingolipidosis
Diagram showing some of the sphingolipidoses
SpecialtyMedical genetics
Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain cera... | Sphingolipidoses | c0037899 | 7,029 | wikipedia | https://en.wikipedia.org/wiki/Sphingolipidoses | 2021-01-18T18:59:25 | {"gard": ["7672"], "mesh": ["D013106"], "umls": ["C0037899"], "icd-9": ["272.7"], "orphanet": ["79225"], "wikidata": ["Q2309612"]} |
For other uses, see Anemia (disambiguation).
Medical condition
Anemia
Other namesAnaemia
Blood smear from a person with iron-deficiency anemia. Note the red cells are small and pale.
Pronunciation
* /əˈniːmiə/
SpecialtyHematology
SymptomsFeeling tired, pale skin, weakness, shortness of breath,... | Anemia | c0002871 | 7,030 | wikipedia | https://en.wikipedia.org/wiki/Anemia | 2021-01-18T19:09:02 | {"mesh": ["D000740"], "umls": ["C0002871"], "orphanet": ["108997"], "wikidata": ["Q5445"]} |
A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
## Epidemiology
The prevalence is unknown, but Bannayan-Riley-Ruvalcaba syndrome (BRRS) is generally considered as a rare disease.
## Clinical description
BRRS ... | Bannayan-Riley-Ruvalcaba syndrome | c0265326 | 7,031 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=109 | 2021-01-23T19:08:19 | {"gard": ["5887"], "mesh": ["D006223"], "omim": ["158350"], "umls": ["C0265326"], "icd-10": ["Q87.8"], "synonyms": ["BRRS", "Myhre-Riley-Smith syndrome"]} |
Thoracic aorta injury
Anatomy of the thoracic aorta
Injury of the thoracic aorta refers to any injury which affects the portion of the aorta which lies within the chest cavity. Injuries of the thoracic aorta are usually the result of physical trauma; however, they can also be the result of a pathological proce... | Thoracic aorta injury | c0160690 | 7,032 | wikipedia | https://en.wikipedia.org/wiki/Thoracic_aorta_injury | 2021-01-18T19:02:29 | {"icd-9": ["901.0", "441"], "icd-10": ["S25.0"], "wikidata": ["Q7796109"]} |
"Dermatochalasia" redirects here. For the medical condition affecting eyelids, see Dermatochalasis.
Cutis laxa
Other namesChalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized elastolysis, Generalized elastorrhexis
Cutis laxa in an infant
SpecialtyMedical genetics
Cutis laxa [1] or p... | Cutis laxa | c0010495 | 7,033 | wikipedia | https://en.wikipedia.org/wiki/Cutis_laxa | 2021-01-18T18:42:08 | {"gard": ["6227"], "mesh": ["D003483"], "umls": ["C0010495"], "icd-9": ["756.83", "701.8"], "orphanet": ["209"], "wikidata": ["Q2735907"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800).
Mapping
Working from the hypothesis that coinheritance of low-risk variants contributes to the 2-fold increased risk of glioma in relatives of individuals with primary brain tumors, Shete et al. (2009) c... | GLIOMA SUSCEPTIBILITY 5 | c0017638 | 7,034 | omim | https://www.omim.org/entry/613030 | 2019-09-22T15:59:56 | {"mesh": ["D005910"], "omim": ["613030"], "orphanet": ["182067"]} |
A number sign (#) is used with this entry because beta-mannosidosis (MANSB) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-mannosidase (MANBA; 609489) on chromosome 4q.
Description
Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism c... | MANNOSIDOSIS, BETA A, LYSOSOMAL | c2931893 | 7,035 | omim | https://www.omim.org/entry/248510 | 2019-09-22T16:25:36 | {"doid": ["3633"], "omim": ["248510"], "orphanet": ["118"], "synonyms": ["Alternative titles", "BETA-MANNOSIDOSIS", "LYSOSOMAL BETA-MANNOSIDASE DEFICIENCY", "BETA-MANNOSIDASE DEFICIENCY"]} |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointe... | Goldberg-Shprintzen megacolon syndrome | c1836123 | 7,036 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=66629 | 2021-01-23T18:10:45 | {"gard": ["9849"], "mesh": ["C537279"], "omim": ["609460"], "umls": ["C1836123"], "icd-10": ["Q87.8"], "synonyms": ["GOSHS", "Megacolon-microcephaly syndrome"]} |
A number sign (#) is used with this entry because multiple types of cataract (CTRCT3) are caused by heterozygous mutation in the beta-B2-crystallin gene (CRYBB2; 123620) on chromosome 22q11.
Description
Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as con... | CATARACT 3, MULTIPLE TYPES | c1861829 | 7,037 | omim | https://www.omim.org/entry/601547 | 2019-09-22T16:14:37 | {"doid": ["0110269"], "mesh": ["C538287"], "omim": ["601547"], "icd-10": ["Q12.0"], "orphanet": ["91492", "1377", "98994"], "synonyms": ["Alternative titles", "CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA", "CATARACT, CONGENITAL, CERULEAN TYPE, 2"]} |
Situs ambiguus
Other namesSitus ambiguous, heterotaxy, heterotaxia
SpecialtyCardiology
Situs ambiguus is a rare congenital defect in which the major visceral organs are distributed abnormally within the chest and abdomen. Heterotaxy in general refers to any defect of left-right laterality and arrangement of ... | Situs ambiguus | c0266642 | 7,038 | wikipedia | https://en.wikipedia.org/wiki/Situs_ambiguus | 2021-01-18T18:32:07 | {"mesh": ["D059446"], "wikidata": ["Q83851589"]} |
Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mism... | Fetal and neonatal alloimmune thrombocytopenia | c3854603 | 7,039 | gard | https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia | 2021-01-18T18:00:30 | {"orphanet": ["853"], "synonyms": ["NAIT"]} |
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakn... | Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome | c4310711 | 7,040 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=496686 | 2021-01-23T18:18:08 | {"omim": ["617114"]} |
Fuchs' dystrophy
Other namesFuchs endothelial corneal dystrophy (FECD)
Fuchs corneal dystrophy. Light microscopic appearance of the cornea showing numerous excrescences (guttae) on the posterior surface of Descemet's membrane and the presence of cysts in the corneal epithelium beneath ectopically placed intraepit... | Fuchs' dystrophy | c0016781 | 7,041 | wikipedia | https://en.wikipedia.org/wiki/Fuchs%27_dystrophy | 2021-01-18T18:44:30 | {"gard": ["10018"], "mesh": ["D005642"], "umls": ["C0016781"], "orphanet": ["98974"], "wikidata": ["Q1464888"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-31 (JBTS31) is caused by homozygous or compound heterozygous mutation in the CEP120 gene (613446) on chromosome 5q23.
Biallelic mutations in the CEP120 gene have also been reported in patients with short-rib thoracic dysplasia-13... | JOUBERT SYNDROME 31 | c4551568 | 7,042 | omim | https://www.omim.org/entry/617761 | 2019-09-22T15:44:55 | {"doid": ["0080277"], "mesh": ["C536293"], "omim": ["213300", "617761"], "orphanet": ["475"], "synonyms": ["CPD IV", "Cerebelloparenchymal disorder IV", "Classic Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "Pure Joubert syndrome"], "genereviews": ["NBK1325"]} |
## Summary
### Clinical characteristics.
The disorder dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease is characterized by the following:
* A movement disorder resulting from manganese accumulation in the basal ganglia
* Whole-blood manganese concentrations that often exceed 2... | Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | None | 7,043 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK100241/ | 2021-01-18T21:29:50 | {"synonyms": []} |
Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.
Most individuals with Bohring-Opitz syndrome have profound to severe intellectual disability, developmental delay, and seizures. Most affected individuals have a normal head shape and size with no brain abnormalities; ... | Bohring-Opitz syndrome | c0796232 | 7,044 | medlineplus | https://medlineplus.gov/genetics/condition/bohring-opitz-syndrome/ | 2021-01-27T08:25:37 | {"gard": ["10140"], "mesh": ["C537419"], "omim": ["605039"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-2 (SCAR2) is caused by homozygous or compound heterozygous mutation in the PMPCA gene (613036) on chromosome 9q34.
Description
Autosomal recessive spinocerebellar ataxia-2 is an neurologic disorder characte... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 | c1859298 | 7,045 | omim | https://www.omim.org/entry/213200 | 2019-09-22T16:29:51 | {"doid": ["0080061"], "mesh": ["C565865"], "omim": ["213200"], "orphanet": ["1170"], "synonyms": ["Alternative titles", "CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE", "CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL", "CEREBELLOPARENCHYMAL DISORDER III", "CPD III"]} |
Selenium deficiency
Selenium
SpecialtyEndocrinology
Causescompromised intestinal function
Selenium deficiency occurs when an organism lacks the required levels of selenium, a critical nutrient in many species. Deficiency, although relatively rare in healthy well-nourished individuals,[1] can have significa... | Selenium deficiency | c0238421 | 7,046 | wikipedia | https://en.wikipedia.org/wiki/Selenium_deficiency | 2021-01-18T18:46:26 | {"umls": ["C0238421"], "icd-9": ["269.3"], "icd-10": ["E59"], "wikidata": ["Q1322302"]} |
Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of m... | Mucinous adenocarcinoma of the appendix | c1706832 | 7,047 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391723 | 2021-01-23T17:23:16 | {"umls": ["C1706832"], "icd-10": ["C18.1"], "synonyms": ["Appendiceal mucinous adenocarcinoma"]} |
See also: Perianal gland tumor
Cytology of an anal sac adenocarcinoma
An anal sac adenocarcinoma is an uncommon and aggressive malignant tumor found in dogs that arises from the apocrine glandular tissue of anal sac. The disease exists in cats as well, but is much less common in that species.[1] They are the second... | Anal sac adenocarcinoma | c3670773 | 7,048 | wikipedia | https://en.wikipedia.org/wiki/Anal_sac_adenocarcinoma | 2021-01-18T18:55:53 | {"wikidata": ["Q4751004"]} |
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: "Total anterior circulation infarct" – news · newspapers · books · scholar · JSTOR (May 2008) (Learn how and when to rem... | Total anterior circulation infarct | None | 7,049 | wikipedia | https://en.wikipedia.org/wiki/Total_anterior_circulation_infarct | 2021-01-18T19:07:20 | {"icd-9": ["433.1"], "wikidata": ["Q524620"]} |
A number sign (#) is used with this entry because of evidence that the Paris-Trousseau type of thrombocytopenia (TCPT) is a contiguous gene deletion syndrome.
Clinical Features
Favier et al. (1993) reported the cases of a 30-year-old woman and her 1-year-old son with chronic thrombocytopenia associated with mil... | THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE | c1956093 | 7,050 | omim | https://www.omim.org/entry/188025 | 2019-09-22T16:32:46 | {"mesh": ["D054868"], "omim": ["188025"], "orphanet": ["851"], "synonyms": ["Alternative titles", "CHROMOSOME 11q23 DELETION SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that prune belly syndrome (PBS) is caused by homozygous mutation in the CHRM3 gene (118494) on chromosome 1q43. One such family has been reported.
Description
In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged blad... | PRUNE BELLY SYNDROME | c0033770 | 7,051 | omim | https://www.omim.org/entry/100100 | 2019-09-22T16:45:33 | {"doid": ["0060889"], "mesh": ["D011535"], "omim": ["100100"], "icd-9": ["756.71"], "icd-10": ["Q79.4"], "orphanet": ["2970"], "synonyms": ["Alternative titles", "ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM", "EAGLE-BARRETT SYNDROME"]} |
A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.
## Epidemiology
Less than 50 cases have been described to date.
## Clinical description
Presentation is typically pr... | Congenital sodium diarrhea | c0267663 | 7,052 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=103908 | 2021-01-23T18:30:03 | {"mesh": ["C562576"], "omim": ["270420", "616868"], "umls": ["C0267663"], "icd-10": ["P78.3"], "synonyms": ["Na-H exchange deficiency", "Non-syndromic congenital sodium diarrhea"]} |
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions i... | Aplasia cutis congenita-intestinal lymphangiectasia syndrome | c1859753 | 7,053 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1116 | 2021-01-23T18:33:11 | {"gard": ["753"], "mesh": ["C537788"], "omim": ["207731"], "umls": ["C1859753"], "synonyms": ["Bronspiegel-Zelnick syndrome"]} |
A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.
*[v]: View this template
*[t]: Discuss this temp... | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation | None | 7,054 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435819 | 2021-01-23T17:30:15 | {"icd-10": ["G60.0"], "synonyms": ["CMT2 due to TFG mutation"]} |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory... | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D | c4015029 | 7,055 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435998 | 2021-01-23T17:11:02 | {"omim": ["616039"], "icd-10": ["G60.0"], "synonyms": ["RI-CMT type D"]} |
Coronary artery aneurysm
Coronary arteries
SpecialtyCardiology
Causesatherosclerosis, Kawasaki disease, coronary catheterization.
Diagnostic methodcoronary angiography
Treatmentmedical management, surgical excision, coronary bypass grafting (CABG), and percutaneous coronary interventions[1]
Coronary ar... | Coronary artery aneurysm | c0010051 | 7,056 | wikipedia | https://en.wikipedia.org/wiki/Coronary_artery_aneurysm | 2021-01-18T19:01:05 | {"gard": ["6200"], "mesh": ["D003323"], "umls": ["C0010051"], "wikidata": ["Q5172183"]} |
A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics... | Refractory anemia with excess blasts in transformation | c0002894 | 7,057 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168960 | 2021-01-23T18:00:01 | {"mesh": ["D000754"], "umls": ["C0002894", "C0280028"], "icd-10": ["D46.3"], "synonyms": ["RAEB-t"]} |
Peeling skin syndrome
SpecialtyMedical genetics
Peeling skin syndrome (also known as "acral peeling skin syndrome", "continual peeling skin syndrome", "familial continual skin peeling", "idiopathic deciduous skin", and "keratolysis exfoliativa congenita"[1]) is an autosomal recessive disorder characterized by ... | Peeling skin syndrome | c2751314 | 7,058 | wikipedia | https://en.wikipedia.org/wiki/Peeling_skin_syndrome | 2021-01-18T18:50:49 | {"gard": ["7347"], "umls": ["C2751314"], "orphanet": ["263543", "817"], "wikidata": ["Q17120550"]} |
Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal ca... | Liposarcoma | c0023827 | 7,059 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69078 | 2021-01-23T17:37:09 | {"gard": ["6913"], "mesh": ["D008080"], "omim": ["613488"], "umls": ["C0023827"], "icd-10": ["C49.9"]} |
A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with adult onset, slowly progressive, mild proximal muscle weakness.
## Epidemiology
The average prevalence at birth of proximal spinal musc... | Proximal spinal muscular atrophy type 4 | c1838230 | 7,060 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83420 | 2021-01-23T17:04:57 | {"mesh": ["C563948"], "omim": ["271150"], "umls": ["C1838230"], "icd-10": ["G12.1"], "synonyms": ["SMA type 4", "SMA type IV", "SMA-IV", "SMA4", "Spinal muscular atrophy, adult form"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial progressive myopathy with congenital cataract, hearing loss, and developmental delay is caused by homozygous mutation in the GFER gene (600924) on chromosome 16p13. One such family has been reported.
Clinical Features
Di Fonzo et al. (... | MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY | c2751320 | 7,061 | omim | https://www.omim.org/entry/613076 | 2019-09-22T15:59:46 | {"mesh": ["C567769"], "omim": ["613076"], "orphanet": ["330054"], "synonyms": ["Alternative titles", "MYOPATHY WITH CATARACT AND COMBINED RESPIRATORY CHAIN DEFICIENCY", "MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED"]} |
A number sign (#) is used with this entry because Aland Island eye disease is caused by mutation in the CACNA1F gene (300110). X-linked incomplete congenital stationary night blindness (CSNB2A; 300071), which has a similar phenotype, is caused by mutations in the same gene.
Description
Aland Island eye disease (AIE... | ALAND ISLAND EYE DISEASE | c0268505 | 7,062 | omim | https://www.omim.org/entry/300600 | 2019-09-22T16:20:04 | {"doid": ["0050630"], "mesh": ["C562664"], "omim": ["300600"], "orphanet": ["178333"], "synonyms": ["Alternative titles", "FORSIUS-ERIKSSON TYPE OCULAR ALBINISM"]} |
A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature ... | Adult T-cell leukemia/lymphoma | c0023493 | 7,063 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86875 | 2021-01-23T18:11:41 | {"mesh": ["D015459"], "umls": ["C0023493"], "icd-10": ["C91.5"], "synonyms": ["ATLL"]} |
Talaromycosis
SpecialtyInfectious disease
Talaromycosis (formerly known as penicilliosis or penicillosis) is an infection caused by Talaromyces marneffei.[1][2][3]
## Contents
* 1 Symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 References
* 6 External links
## Symptoms[edit]
The most ... | Talaromycosis | None | 7,064 | wikipedia | https://en.wikipedia.org/wiki/Talaromycosis | 2021-01-18T18:36:25 | {"icd-9": ["117.3"], "icd-10": ["B48.4"], "wikidata": ["Q3080319"]} |
A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing n... | Vegetative pyoderma gangrenosum | None | 7,065 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=538872 | 2021-01-23T18:00:42 | {"icd-10": ["L88"], "synonyms": ["Granulomatous pyoderma gangrenosum"]} |
A number sign (#) is used with this entry because Stormorken syndrome (STRMK) is caused by heterozygous mutation in the STIM1 gene (605921) on chromosome 11p15.
Heterozygous mutation in the STIM1 gene can also cause isolated tubular aggregate myopathy-1 (TAM1; 160565).
Description
Stormorken syndrome is an autosom... | STORMORKEN SYNDROME | c1861451 | 7,066 | omim | https://www.omim.org/entry/185070 | 2019-09-22T16:34:07 | {"doid": ["0060354"], "mesh": ["C566108"], "omim": ["185070"], "orphanet": ["3204"], "synonyms": ["Alternative titles", "THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS", "YORK PLATELET SYNDROME"]} |
Postoperative nausea and vomiting
SpecialtyAnesthesia
Postoperative nausea and vomiting (PONV) is the phenomenon of nausea, vomiting, or retching experienced by a patient in the postanesthesia care unit (PACU) or within 24 hours following a surgical procedure. It is an unpleasant complication that affects abou... | Postoperative nausea and vomiting | c0520909 | 7,067 | wikipedia | https://en.wikipedia.org/wiki/Postoperative_nausea_and_vomiting | 2021-01-18T18:30:26 | {"mesh": ["D020250"], "wikidata": ["Q1658731"]} |
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene an... | Char syndrome | c1868570 | 7,068 | gard | https://rarediseases.info.nih.gov/diseases/1237/char-syndrome | 2021-01-18T18:01:32 | {"mesh": ["C566815"], "omim": ["169100"], "umls": ["C1868570"], "orphanet": ["46627"], "synonyms": ["CHAR", "Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits"]} |
Autophony
Other namesTympanophony
Autophony is the unusually loud hearing of a person's own voice.
Possible causes are:
* The "occlusion effect", caused by an object, such as an unvented hearing aid or a plug of ear wax, blocking the ear canal and reflecting sound vibration back towards the eardrum.[1]
*... | Autophony | c0877395 | 7,069 | wikipedia | https://en.wikipedia.org/wiki/Autophony | 2021-01-18T18:44:27 | {"umls": ["C0877395"], "icd-9": ["388.40"], "wikidata": ["Q684088"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to hereditary essential tremor-1 (ETM1) is conferred by variation in the DRD3 gene (126451) on chromosome 3q13.
Description
Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postu... | TREMOR, HEREDITARY ESSENTIAL, 1 | c1860861 | 7,070 | omim | https://www.omim.org/entry/190300 | 2019-09-22T16:32:28 | {"mesh": ["C536545"], "omim": ["190300"], "synonyms": ["Alternative titles", "TREMOR, FAMILIAL ESSENTIAL, 1"]} |
Septal panniculitis
Septal panniculitis is a condition of the subcutaneous fat affecting the layer of adipose tissue that lies between the dermis and underlying fascia, of which there are two forms: acute erythema nodosum and chronic erythema nodosum.[1]:487–9
## See also[edit]
* Erythema nodosum
* List of... | Septal panniculitis | c0263011 | 7,071 | wikipedia | https://en.wikipedia.org/wiki/Septal_panniculitis | 2021-01-18T18:54:59 | {"umls": ["C0263011"], "wikidata": ["Q7452045"]} |
Gyrate atrophy of the choroid and retina is an inherited disorder of protein metabolism characterized by progressive vision loss. Symptoms such as nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision develop during childhood. Over time, the field of visi... | Gyrate atrophy of choroid and retina | c0599035 | 7,072 | gard | https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina | 2021-01-18T18:00:11 | {"mesh": ["D015799"], "omim": ["258870"], "orphanet": ["414"], "synonyms": ["Ornithine aminotransferase deficiency", "Ornithine ketoacid aminotransferase deficiency", "Gyrate atrophy", "OAT deficiency", "OKT deficiency", "Hyperornithinemia with gyrate atrophy of choroid and retina", "HOGA", "Girate atrophy of the retin... |
Condition in which an individual cannot voluntarily visualize imagery
Aphantasia is a condition characterized by an inability to voluntarily visualize mental imagery.[1] Many people with aphantasia also report an inability to recall sounds, smells, or sensations of touch. Some also report prosopagnosia, the inabilit... | Aphantasia | None | 7,073 | wikipedia | https://en.wikipedia.org/wiki/Aphantasia | 2021-01-18T18:56:05 | {"wikidata": ["Q20707611"]} |
Brown et al. (1972) described a physically and mentally retarded child with dibasicaminoaciduria and hyperammonemia. Oral loading tests showed diminished capacity for absorbing lysine. Fasting blood arginine and lysine concentrations were low. Postprandial hyperammonemia was thought to be due to deficiency of arg... | HYPERLYSINURIA WITH HYPERAMMONEMIA | c0268555 | 7,074 | omim | https://www.omim.org/entry/238750 | 2019-09-22T16:26:51 | {"mesh": ["D020167"], "omim": ["238750"], "synonyms": ["Alternative titles", "HYPERLYSINEMIA, PERIODIC"]} |
## Cloning and Expression
From a rat genomic library, Ingvarsson et al. (1988) isolated a new member of the MYC family, designated BMYC because its highest expression was found in brain and because it was highly homologous to MYC (190080).
Mapping
Ingvarsson et al. (1988) used a fragment of the cloned BMYC gene t... | ONCOGENE BMYC | c1833829 | 7,075 | omim | https://www.omim.org/entry/165210 | 2019-09-22T16:37:06 | {"omim": ["165210"]} |
Rare, extreme form of the movement disorder chorea
This article may need to be rewritten to comply with Wikipedia's quality standards. You can help. The talk page may contain suggestions. (May 2009)
Hemiballismus
Other namesBallismus or Ballism
SpecialtyNeurology
Hemiballismus or hemiballism is a basal... | Hemiballismus | c0221169 | 7,076 | wikipedia | https://en.wikipedia.org/wiki/Hemiballismus | 2021-01-18T19:10:06 | {"mesh": ["D020820"], "umls": ["C0221169"], "icd-9": ["333.5"], "icd-10": ["G25.5"], "wikidata": ["Q946041"]} |
This article is written like a personal reflection, personal essay, or argumentative essay that states a Wikipedia editor's personal feelings or presents an original argument about a topic. Please help improve it by rewriting it in an encyclopedic style. (April 2014) (Learn how and when to remove this template me... | Emotional eating | None | 7,077 | wikipedia | https://en.wikipedia.org/wiki/Emotional_eating | 2021-01-18T18:36:05 | {"wikidata": ["Q17010564"]} |
A number sign (#) is used with this entry because the papillorenal syndrome (PAPRS) is caused by heterozygous mutation in the PAX2 gene (167409) on chromosome 10q24.
Description
Papillorenal syndrome is an autosomal dominant disorder characterized by both ocular and renal anomalies. Less common findings include... | PAPILLORENAL SYNDROME | c1852759 | 7,078 | omim | https://www.omim.org/entry/120330 | 2019-09-22T16:43:06 | {"doid": ["0090006"], "mesh": ["C537168"], "omim": ["120330"], "orphanet": ["1475"], "synonyms": ["Alternative titles", "RENAL-COLOBOMA SYNDROME", "OPTIC NERVE COLOBOMA WITH RENAL DISEASE", "COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE", "OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES", "RENAL-COLOBOMA SYNDRO... |
A number sign (#) is used with this entry because of evidence that poikiloderma with neutropenia (PN) is caused by homozygous or compound heterozygous mutation in the C16ORF57 gene (USB1; 613276) on chromosome 16q21.
Clinical Features
Erickson (1999) provided a review of an apparently unique genodermatosis first de... | POIKILODERMA WITH NEUTROPENIA | c1858723 | 7,079 | omim | https://www.omim.org/entry/604173 | 2019-09-22T16:12:26 | {"doid": ["0060551"], "mesh": ["C565820"], "omim": ["604173"], "orphanet": ["221046"], "synonyms": ["Alternative titles", "POIKILODERMA WITH NEUTROPENIA, CLERICUZIO-TYPE"], "genereviews": ["NBK459118"]} |
Rimoin (1969) and Fox et al. (1976) described 2 sisters with an identical malformation of the nose consisting mainly of hypoplasia and coloboma of the alar cartilages. Both also showed telecanthus. The parents and other relatives were unaffected and no parental consanguinity was reported. This remains a unique observ... | FRONTONASAL DYSPLASIA WITH ALAR CLEFTS | c1859964 | 7,080 | omim | https://www.omim.org/entry/203000 | 2019-09-22T16:31:21 | {"mesh": ["C535967"], "omim": ["203000"], "orphanet": ["2007"], "synonyms": ["Alternative titles", "ALAR-NASAL CARTILAGES, COLOBOMA OF, WITH TELECANTHUS"]} |
Kairo cancer
SpecialtyDermatology/oncology
Kairo cancer is a cutaneous condition that may develop due to hydrocarbon-fueled heat exposure from coal-fired clothing warmers.[1]
## See also[edit]
* Kangri ulcer
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.;... | Kairo cancer | None | 7,081 | wikipedia | https://en.wikipedia.org/wiki/Kairo_cancer | 2021-01-18T18:29:54 | {"wikidata": ["Q6348271"]} |
Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2)... | Otopalatodigital syndrome spectrum disorder | c2748918 | 7,082 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=364541 | 2021-01-23T18:07:44 | {"mesh": ["C567577"], "umls": ["C2748918"], "synonyms": ["OPD spectrum disorder", "OPSD"]} |
Glutaric acidemia type I (also called glutaric aciduria type I) is an inherited disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of... | Glutaric acidemia type I | c0268595 | 7,083 | medlineplus | https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i/ | 2021-01-27T08:25:50 | {"gard": ["6522"], "mesh": ["C536833"], "omim": ["231670"], "synonyms": []} |
Nodular sclerosis
Nodular sclerosis. The distinct nodules on the cut surface of this lymph node strongly suggest the diagnosis.
SpecialtyOncology
Nodular sclerosis (or "NSHL") is a form of Hodgkin's lymphoma[1] that is the most common subtype of HL in developed countries. It affects females slightly more tha... | Nodular sclerosis | c0152268 | 7,084 | wikipedia | https://en.wikipedia.org/wiki/Nodular_sclerosis | 2021-01-18T19:07:10 | {"umls": ["C0152268"], "icd-10": ["C81.1"], "wikidata": ["Q17126784"]} |
A number sign (#) is used with this entry because of evidence that this form of congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency, referred to here as CBAS2, is caused by homozygous or compound heterozygous mutation in the AKR1D1 gene (604741) on chromosome 7q33.
For... | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 | c1856127 | 7,085 | omim | https://www.omim.org/entry/235555 | 2019-09-22T16:27:09 | {"doid": ["0111069"], "mesh": ["C535443"], "omim": ["235555"], "orphanet": ["79303"], "synonyms": ["Alternative titles", "CHOLESTASIS WITH DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY"]} |
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.
Profound biotinidase defici... | Biotinidase deficiency | c0220754 | 7,086 | medlineplus | https://medlineplus.gov/genetics/condition/biotinidase-deficiency/ | 2021-01-27T08:25:34 | {"gard": ["894"], "mesh": ["D028921"], "omim": ["253260"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that primary lymphedema with myelodysplasia is caused by heterozygous mutation in the GATA2 gene (137295) on chromosome 3q21.
Immunodeficiency-21 (IMD21; 614172) is an allelic disorder with overlapping clinical features.
Clinical Features
Emberger et al... | LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA | c3279664 | 7,087 | omim | https://www.omim.org/entry/614038 | 2019-09-22T15:56:43 | {"mesh": ["D000077428"], "omim": ["614038"], "orphanet": ["3226"], "synonyms": ["Emberger syndrome", "Alternative titles", "EMBERGER SYNDROME"]} |
Heijbel and Jagell (1981) described 3 sibs (2 males, 1 female) with what they considered to be a new syndrome of spastic paraplegia, glaucoma, and mental retardation. Another related female was also affected. The 3 sibs had 4 other sibs with essential myoclonus. Chenevix-Trench et al. (1986) described a second sibshi... | SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION | c1849113 | 7,088 | omim | https://www.omim.org/entry/270850 | 2019-09-22T16:22:13 | {"mesh": ["C564809"], "omim": ["270850"], "orphanet": ["2818"]} |
Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
## Epidemiology
HH type 4 is less rare than the other rare forms of HH, hemochromatosis type 2 or type 3... | Hemochromatosis type 4 | c1853733 | 7,089 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139491 | 2021-01-23T18:32:17 | {"gard": ["10094"], "mesh": ["C537249"], "omim": ["606069"], "umls": ["C1853733"], "icd-10": ["E83.1"], "synonyms": ["Autosomal dominant hereditary hemochromatosis", "Ferroportin disease", "Hemochromatosis due to defect in ferroportin"]} |
Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be tr... | Startle epilepsy | c4706527 | 7,090 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166427 | 2021-01-23T16:56:49 | {"icd-10": ["G40.5"]} |
Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifest... | Schistosomiasis | c0036323 | 7,091 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1247 | 2021-01-23T18:53:27 | {"gard": ["9687"], "mesh": ["D012552"], "omim": ["181460"], "umls": ["C0036323"], "icd-10": ["B65.0", "B65.1", "B65.2", "B65.3", "B65.8", "B65.9"], "synonyms": ["Bilharziasis"]} |
A transfusion transmitted infection (TTI) is a virus, parasite, or other potential pathogen that can be transmitted in donated blood through a transfusion to a recipient. The term is usually limited to known pathogens, but also sometimes includes agents such as Simian foamy virus which are not known to cause disease.... | Transfusion transmitted infection | c4505499 | 7,092 | wikipedia | https://en.wikipedia.org/wiki/Transfusion_transmitted_infection | 2021-01-18T18:40:20 | {"mesh": ["D065227"], "wikidata": ["Q7834211"]} |
A number sign (#) is used with this entry because pseudo-von Willebrand disease is caused by mutation in the gene encoding the alpha subunit (GP1BA; 606672) of the GP Ib platelet membrane von Willebrand factor (VWF; 613160) receptor. Mutations in the GP Ib receptor also cause Bernard-Soulier syndrome (231200).
D... | PSEUDO-VON WILLEBRAND DISEASE | c1280798 | 7,093 | omim | https://www.omim.org/entry/177820 | 2019-09-22T16:35:31 | {"doid": ["0111056"], "mesh": ["C536458"], "omim": ["177820"], "orphanet": ["52530"], "synonyms": ["Alternative titles", "BLEEDING DISORDER, PLATELET-TYPE, 3", "VON WILLEBRAND DISEASE, PLATELET-TYPE"]} |
Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities.
The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected ... | Craniofacial-deafness-hand syndrome | c1852510 | 7,094 | medlineplus | https://medlineplus.gov/genetics/condition/craniofacial-deafness-hand-syndrome/ | 2021-01-27T08:24:59 | {"gard": ["1571"], "mesh": ["C536453"], "omim": ["122880"], "synonyms": []} |
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).
## Epidemiology
Prevalence is unknown but to date about 50 cases have been reported in the literature.
## Clinical descrip... | Brain-lung-thyroid syndrome | c1970269 | 7,095 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209905 | 2021-01-23T18:37:20 | {"gard": ["12163"], "mesh": ["C567034"], "omim": ["610978"], "umls": ["C1970269"], "icd-10": ["E03.1"], "synonyms": ["Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome"]} |
Devi et al. (1995) reported the cases of 2 unrelated male infants with similar findings of communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. Both mothers reported an upper respiratory infection during the first trimester of pregnancy, which was further complicated by polyhydramn... | HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS | c1833607 | 7,096 | omim | https://www.omim.org/entry/600559 | 2019-09-22T16:16:03 | {"mesh": ["C535855"], "omim": ["600559"], "orphanet": ["2119"], "synonyms": ["Alternative titles", "HEC SYNDROME"]} |
Vesiculobullous disease
Diagram showing cross section of vesicles (left) and bullae (right) on skin.
SpecialtyDermatology
A vesiculobullous disease is a type of mucocutaneous disease characterized by vesicles and bullae (i.e. blisters). Both vesicles and bullae are fluid-filled lesions, and they are distingu... | Vesiculobullous disease | c0037275 | 7,097 | wikipedia | https://en.wikipedia.org/wiki/Vesiculobullous_disease | 2021-01-18T19:10:07 | {"mesh": ["D012872"], "umls": ["C0037275"], "wikidata": ["Q7923229"]} |
Rare neurodegenerative disease
Parts of this article (those related to see PMID 27042904 and PMID 28410663) need to be updated. Please update this article to reflect recent events or newly available information. (March 2018)
Corticobasal degeneration (CBD) is a rare neurodegenerative disease involving the c... | Corticobasal degeneration | c0393570 | 7,098 | wikipedia | https://en.wikipedia.org/wiki/Corticobasal_degeneration | 2021-01-18T18:49:29 | {"gard": ["46"], "umls": ["C0393570"], "icd-9": ["331.6"], "orphanet": ["454887"], "wikidata": ["Q1755684"]} |
A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-8 with or without polydactyly (SRTD8) is caused by compound heterozygous mutation in the WDR60 gene (615462) on chromosome 7q36.
Description
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a... | SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY | c0432197 | 7,099 | omim | https://www.omim.org/entry/615503 | 2019-09-22T15:51:53 | {"doid": ["0110094"], "mesh": ["C537602"], "omim": ["615503"], "orphanet": ["93271"], "synonyms": ["Alternative titles", "SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI"]} |
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