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Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.
## Epidemiology... | Hereditary folate malabsorption | c0342705 | 2,800 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90045 | 2021-01-23T17:57:50 | {"gard": ["12983"], "mesh": ["C562799"], "omim": ["229050"], "umls": ["C0342705"], "icd-10": ["D52.8"], "synonyms": ["Congenital folate malabsorption"]} |
A number sign (#) is used with this entry because of evidence that familial Behcet-like autoinflammatory syndrome (AISBL) is caused by heterozygous mutation in the TNFAIP3 gene (191163) on chromosome 6q23.
Description
Familial Behcet-like autoinflammatory syndrome is an autosomal dominant disorder characterized by ... | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE | c4225218 | 2,801 | omim | https://www.omim.org/entry/616744 | 2019-09-22T15:48:03 | {"omim": ["616744"], "orphanet": ["476102"], "synonyms": ["Behçet-like disease due to HA20", "Behçet-like disease due to haploinsufficiency of A20"]} |
Type of trauma experienced in World War One
For other uses, see Shellshock.
Shell shock
Other namesBullet wind, soldier's heart, battle fatigue, operational exhaustion[1]
This particular soldier is one example of shell shock, of which a dazed expression and a steady stare are two common manifestations.
Specia... | Shell shock | c2930747 | 2,802 | wikipedia | https://en.wikipedia.org/wiki/Shell_shock | 2021-01-18T18:50:32 | {"mesh": ["D003130"], "umls": ["C2930747"], "icd-9": ["308.9"], "icd-10": ["F43.0"], "wikidata": ["Q15061465"]} |
Retroperitoneal fibrosis is a slowly progressive disorder in which the tubes that carry urine from the kidneys to the bladder (ureters) and other abdominal organs or vessels become blocked by a fibrous mass and inflammation in the back of the abdomen. The disorder may cause pain in the abdomen that worsens with time,... | Retroperitoneal fibrosis | c0035357 | 2,803 | gard | https://rarediseases.info.nih.gov/diseases/9568/retroperitoneal-fibrosis | 2021-01-18T17:57:55 | {"mesh": ["D012185"], "umls": ["C0035357"], "orphanet": ["49041"], "synonyms": ["Idiopathic retroperitoneal fibrosis", "Ormond's disease", "IgG4-related retroperitoneal fibrosis", "Ormond disease"]} |
A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal m... | Isolated cytochrome C oxidase deficiency | c0268237 | 2,804 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254905 | 2021-01-23T17:24:29 | {"gard": ["48"], "mesh": ["D030401"], "omim": ["220110"], "umls": ["C0268237"], "icd-10": ["E88.8"], "synonyms": ["Isolated COX deficiency", "Isolated mitochondrial respiratory chain complex IV deficiency"]} |
X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibrator... | X-linked spastic paraplegia type 34 | c2677897 | 2,805 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171607 | 2021-01-23T17:01:57 | {"mesh": ["C567465"], "omim": ["300750"], "umls": ["C2677897"], "icd-10": ["G11.4"], "synonyms": ["SPG34"]} |
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular a... | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | c1855466 | 2,806 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2196 | 2021-01-23T18:42:53 | {"gard": ["3451"], "mesh": ["C565423"], "omim": ["248190"], "umls": ["C1855466", "C2931121"], "icd-10": ["E83.4"], "synonyms": ["FHHNC with severe ocular involvement", "Hypercalciuria-bilateral macular coloboma syndrome", "Meier-Blumberg-Imahorn syndrome"]} |
A number sign (#) is used with this entry because tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) B (HPABH4B) is caused by mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225). An autosomal recessive form of dopa-responsive dystonia with or without hyperphenylalaninemia is caused by mutat... | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B | c0751436 | 2,807 | omim | https://www.omim.org/entry/233910 | 2019-09-22T16:27:19 | {"mesh": ["D010661"], "omim": ["233910"], "orphanet": ["238583", "2102"], "synonyms": ["Alternative titles", "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY", "GTP CYCLOHYDROLASE I DEFICIENCY"]} |
Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak h... | Donnai-Barrow syndrome | c1857277 | 2,808 | medlineplus | https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome/ | 2021-01-27T08:25:38 | {"gard": ["1899"], "mesh": ["C536390"], "omim": ["222448"], "synonyms": []} |
A number sign (#) is used with this entry because spinocerebellar ataxia-2 (SCA2) is caused by an expanded (CAG)n trinucleotide repeat in the gene encoding ataxin-2 (ATXN2; 601517). Unaffected individuals have 13 to 31 CAG repeats, whereas affected individuals have 32 to 79 repeats, with some in the range of 500 repe... | SPINOCEREBELLAR ATAXIA 2 | c0752121 | 2,809 | omim | https://www.omim.org/entry/183090 | 2019-09-22T16:34:31 | {"doid": ["0050955"], "mesh": ["D020754"], "omim": ["183090"], "orphanet": ["98756"], "synonyms": ["Alternative titles", "SPINOCEREBELLAR ATROPHY II", "OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE", "OLIVOPONTOCEREBELLAR ATROPHY II", "SPINOCEREBELLAR ATAXIA, CUBAN TYPE", "CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS",... |
De Yebenes et al. (1988) described a syndrome of branchial myoclonus, spastic paraparesis, and cerebellar ataxia in 6 members of 2 generations of a family that lived in the province of Toledo in Spain. Male-to-male transmission occurred. Rhythmic myoclonus involving the palate, pharynx, larynx, and face was followed ... | BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA | c1862071 | 2,810 | omim | https://www.omim.org/entry/113610 | 2019-09-22T16:43:56 | {"mesh": ["C566188"], "omim": ["113610"]} |
Condition of possessing an extremely detailed autobiographical memory
"HSAM" redirects here. For the Hierarchical Sequential Access Method, see HSAM (computing).
Hyperthymesia
Other nameshyperthymestic syndrome,[1] highly superior autobiographical memory[2]
SpecialtyPsychology Psychiatry, neurology
Hypert... | Hyperthymesia | None | 2,811 | wikipedia | https://en.wikipedia.org/wiki/Hyperthymesia | 2021-01-18T19:06:39 | {"wikidata": ["Q45320"]} |
Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that oft... | Chromosome 6p deletion | None | 2,812 | gard | https://rarediseases.info.nih.gov/diseases/10843/chromosome-6p-deletion | 2021-01-18T18:01:21 | {"synonyms": ["Deletion 6p", "Monosomy 6p", "6p deletion", "6p monosomy", "Partial monosomy 6p"]} |
Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions.
## Epidemiology
PNS are rare, affecting less than 1/10,000 patients with cancer.
## Clinical description
Only the Lambert-... | Paraneoplastic neurologic syndrome | c0393534 | 2,813 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36388 | 2021-01-23T17:59:20 | {"gard": ["7326"], "mesh": ["D020362"], "umls": ["C0393534", "C0751911", "C3267031"], "synonyms": ["PCD", "PNS", "Paraneoplastic cerebellar degeneration"]} |
Renal segmental hypoplasia
Other namesAsk-Upmark kidney
SpecialtyNephrology
Renal segmental hypoplasia is a kidney with a partially developed or atrophic renal cortex.[1]
## Contents
* 1 Presentation
* 2 Cause
* 3 See also
* 4 References
* 5 External links
## Presentation[edit]
Ask-Upmark kidne... | Renal segmental hypoplasia | None | 2,814 | wikipedia | https://en.wikipedia.org/wiki/Renal_segmental_hypoplasia | 2021-01-18T18:50:21 | {"icd-9": ["15.1"], "icd-10": ["Q60.5"], "wikidata": ["Q3932946"]} |
Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial... | Moebius syndrome | c0853240 | 2,815 | gard | https://rarediseases.info.nih.gov/diseases/8549/moebius-syndrome | 2021-01-18T17:59:01 | {"mesh": ["C531747"], "omim": ["157900"], "orphanet": ["570"], "synonyms": ["Mobius syndrome", "Congenital facial diplegia", "Congenital facial diplegia syndrome", "Congenital oculofacial paralysis", "Moebius sequence", "MBS", "Absence or underdevelopment of the 6th and 7th cranial nerves"]} |
Digestive disease caused by an inflammation of a herniating pouch (diverticulum)
Diverticulitis
Other namesColonic diverticulitis
Section of the large bowel (sigmoid colon) showing multiple pouches (diverticula). The diverticula appear on either side of the longitudinal muscle bundle (taenium) which runs horizon... | Diverticulitis | c0012813 | 2,816 | wikipedia | https://en.wikipedia.org/wiki/Diverticulitis | 2021-01-18T19:03:43 | {"mesh": ["D004238"], "umls": ["C0012813"], "icd-9": ["562"], "icd-10": ["K57"], "wikidata": ["Q1066061"]} |
A number sign (#) is used with this entry because of evidence that elliptocytosis-2 (EL2) is caused by heterozygous mutation in the alpha-spectrin gene (SPTA1; 182860) on chromosome 1q23.
For a general description and a discussion of genetic heterogeneity of elliptocytosis (HE), see EL1 (611804).
Clinical Featu... | ELLIPTOCYTOSIS 2 | c0013902 | 2,817 | omim | https://www.omim.org/entry/130600 | 2019-09-22T16:41:45 | {"doid": ["2373"], "mesh": ["D004612"], "omim": ["130600"], "orphanet": ["288"], "synonyms": ["Alternative titles", "ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE"]} |
A number sign (#) is used with this entry because X-linked ichthyosis (XLI), which results from steroid sulfatase deficiency, is caused by mutation or deletion of the STS gene (300747) on chromosome Xp22. Most patients (90%) have deletions of the STS gene.
Some patients have larger deletions at Xp22.3 that encompass... | ICHTHYOSIS, X-LINKED | c2720163 | 2,818 | omim | https://www.omim.org/entry/308100 | 2019-09-22T16:18:09 | {"doid": ["1700"], "mesh": ["D016114"], "omim": ["308100"], "icd-10": ["Q80.1"], "orphanet": ["461", "281090"], "synonyms": ["Alternative titles", "STEROID SULFATASE DEFICIENCY", "STS DEFICIENCY", "PLACENTAL STEROID SULFATASE DEFICIENCY", "STEROID SULFATASE DEFICIENCY DISEASE"]} |
A number sign (#) is used with this entry because of evidence that male-limited precocious puberty can be caused by constitutively activating mutations in the luteinizing hormone receptor gene (LHCGR; 152790).
See 139320.0019 for testotoxicosis in paradoxical combination with pseudohypoparathyroidism type Ia, due to... | PRECOCIOUS PUBERTY, MALE-LIMITED | c0342549 | 2,819 | omim | https://www.omim.org/entry/176410 | 2019-09-22T16:35:44 | {"mesh": ["C536961"], "omim": ["176410"], "orphanet": ["3000"], "synonyms": ["Alternative titles", "SEXUAL PRECOCITY, FAMILIAL, GONADOTROPIN-INDEPENDENT", "TESTOTOXICOSIS, FAMILIAL"]} |
Prolactinoma is a tumor of the pituitary gland that causes increased levels of the hormone prolactin. This hormone normally stimulates breast development and milk production in women. Prolactinoma can affect men or women. In women, the symptoms may include unusual milk production (galactorrhea) when not pregnant or n... | Prolactinoma | c0033375 | 2,820 | gard | https://rarediseases.info.nih.gov/diseases/4508/prolactinoma | 2021-01-18T17:58:08 | {"mesh": ["D015175"], "omim": ["600634"], "umls": ["C0033375"], "orphanet": ["2965"], "synonyms": ["Lactotroph adenoma", "Pituitary lactotrophic adenoma", "PRL-secreting pituitary adenoma", "PRLoma", "Prolactin-secreting pituitary adenoma", "Forbes-Albright syndrome (formerly)", "Prolactin-Producing Pituitary Gland Ade... |
Futcher line is a linear discontinuity in intensity of pigmentation on the upper arm and deltoid area of blacks. It is located on the lateral aspect of the arm and marks the junction between the dorsal and ventral parts of the extremity. Futcher (1938, 1940) found it bilaterally in 17.5% of blacks regardless of age, ... | FUTCHER LINE | c1850937 | 2,821 | omim | https://www.omim.org/entry/137000 | 2019-09-22T16:40:53 | {"omim": ["137000"]} |
A number sign (#) is used with this entry because of evidence that this form of type A1 brachydactyly (BDA1D) is caused by heterozygous mutation in the BMPR1B gene (603248) on chromosome 4q22.
Mutation in the BMPR1B gene has also been reported to cause type A2 brachydactyly (BDA2; 112600).
For a general phenotypic ... | BRACHYDACTYLY, TYPE A1, D | c1862151 | 2,822 | omim | https://www.omim.org/entry/616849 | 2019-09-22T15:47:44 | {"doid": ["0110978"], "mesh": ["C537088"], "omim": ["616849"], "orphanet": ["93388"]} |
## Summary
### Clinical characteristics.
Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. An... | Spinocerebellar Ataxia Type 7 | c0752125 | 2,823 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1256/ | 2021-01-18T20:54:55 | {"mesh": ["D020754"], "synonyms": ["SCA7"]} |
Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.
## Epidemiology
Mixed AIHA occurs in less than 10% of... | Mixed-type autoimmune hemolytic anemia | None | 2,824 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90036 | 2021-01-23T17:17:16 | {"icd-10": ["D59.1"], "synonyms": ["Mixed AIHA"]} |
Mantle cell lymphoma
Micrograph showing mantle cell lymphoma (bottom of image) in a biopsy of the terminal ileum. H&E stain.
SpecialtyHematology and oncology
Mantle cell lymphoma (MCL) is a type of non-Hodgkin's lymphoma (NHL), comprising about 6% of NHL cases.[1][2] There are only about 15,000 patients pres... | Mantle cell lymphoma | c0334634 | 2,825 | wikipedia | https://en.wikipedia.org/wiki/Mantle_cell_lymphoma | 2021-01-18T18:45:01 | {"gard": ["6969"], "mesh": ["D020522"], "umls": ["C0334634", "C0555202"], "icd-9": ["200.4"], "icd-10": ["C85.7"], "orphanet": ["52416"], "wikidata": ["Q268713"]} |
Schwartz Jampel syndrome (SJS) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle stiffness and weakness; joint deformities that affect mobility (contractures); short stature; small "fixed" facial features; and eye abnormalities. Previously, SJS was divided into type... | Schwartz Jampel syndrome | c0036391 | 2,826 | gard | https://rarediseases.info.nih.gov/diseases/250/schwartz-jampel-syndrome | 2021-01-18T17:57:49 | {"mesh": ["D010009"], "omim": ["255800"], "umls": ["C0036391"], "orphanet": ["800"], "synonyms": ["Aberfeld syndrome", "Burton skeletal dysplasia", "Burton syndrome", "Catel-Hempel syndrome", "Dysostosis enchondralis metaepiphysaria, Catel-Hempel type", "Osteochondromuscular dystrophy", "Schwartz-Jampel syndrome", "Sch... |
Heart defect – round face – congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellec... | Congenital heart defect-round face-developmental delay syndrome | c0796162 | 2,827 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1355 | 2021-01-23T17:05:26 | {"gard": ["4905"], "mesh": ["C536680"], "omim": ["270460"], "umls": ["C0796162"], "icd-10": ["Q87.8"], "synonyms": ["Sonoda syndrome"]} |
## Summary
### Clinical characteristics.
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some cases) that results in non-scarring blisters and erosions caused by minor mechanical trauma. The current classification of epidermolysis bullosa (EB) includes two maj... | Epidermolysis Bullosa Simplex | c0079298 | 2,828 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1369/ | 2021-01-18T21:28:35 | {"mesh": ["D016110"], "synonyms": []} |
Beta-mannosidosis
Other namesBeta-mannosidase deficiency, MANSB
This condition is autosomal recessive in inheritance
SpecialtyMedical genetics
SymptomsRespiratory infections, Hearing loss and Intellectual disability.[1]
CausesMutations in the MANBA gene[2]
Diagnostic methodUrine test[3]
TreatmentBased o... | Beta-mannosidosis | c2931893 | 2,829 | wikipedia | https://en.wikipedia.org/wiki/Beta-mannosidosis | 2021-01-18T18:54:53 | {"mesh": ["D044905"], "umls": ["C0342849"], "icd-10": ["Q77.1"], "orphanet": ["118"], "wikidata": ["Q291617"]} |
Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atri... | Premature closure of the arterial duct | None | 2,830 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95486 | 2021-01-23T17:00:09 | {"icd-10": ["Q25.8"], "synonyms": ["Premature closure of the patent ductus arteriosus"]} |
LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.
Early-onset LAMA2-related muscular dystrophy is apparent at birth or within the f... | LAMA2-related muscular dystrophy | c1263858 | 2,831 | medlineplus | https://medlineplus.gov/genetics/condition/lama2-related-muscular-dystrophy/ | 2021-01-27T08:25:08 | {"gard": ["3843"], "mesh": ["C537384"], "omim": ["607855"], "synonyms": []} |
Not to be confused with Ectromelia virus.
Ectromelia
SpecialtyOrthopedic
Ectromelia is a congenital condition where long bones are missing or underdeveloped.[1]Examples include:
* Amelia
* Hemimelia
* Phocomelia
* Sirenomelia
## References[edit]
1. ^ "ectromelia" at Dorland's Medical Dictionary
... | Ectromelia | c0013589 | 2,832 | wikipedia | https://en.wikipedia.org/wiki/Ectromelia | 2021-01-18T18:45:47 | {"mesh": ["D004480"], "icd-9": ["755.30", "755.4", "755.20"], "icd-10": ["Q73.8"], "wikidata": ["Q1323724"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of hot water epilepsy, see HWE1 (613339).
Clinical Features
Ratnapriya et al. (2009) reported a 4-generation family from southern India in which 10 individuals had hot water epilepsy. All had complex partial seizures precipitated by ... | EPILEPSY, HOT WATER, 2 | c3150536 | 2,833 | omim | https://www.omim.org/entry/613340 | 2019-09-22T15:59:04 | {"omim": ["613340", "613339"], "orphanet": ["166412"], "synonyms": []} |
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: "Premature heart beat" – news · newspapers · books · scholar · JSTOR (March 2015) (Learn how and when to remove this tem... | Premature heart beat | c0340464 | 2,834 | wikipedia | https://en.wikipedia.org/wiki/Premature_heart_beat | 2021-01-18T18:51:55 | {"mesh": ["D005117"], "umls": ["C0340464"], "icd-9": ["427.6"], "wikidata": ["Q840646"]} |
Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of termina... | Autosomal recessive spastic paraplegia type 61 | c3810294 | 2,835 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401780 | 2021-01-23T17:00:55 | {"omim": ["615685"], "icd-10": ["G11.4"], "synonyms": ["SPG61"]} |
Familial aortic dissection
Other namesCystic medial necrosis of aorta, Annuloaortic ectasia
Aorta
Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch, ascending or descending portions. FAD is thought to be passed down as an autosomal dominant disease and once... | Familial aortic dissection | c0392775 | 2,836 | wikipedia | https://en.wikipedia.org/wiki/Familial_aortic_dissection | 2021-01-18T18:43:37 | {"mesh": ["C536230"], "orphanet": ["229"], "wikidata": ["Q5432930"]} |
A number sign (#) is used with this entry because properdin deficiency, also known as complement factor properdin deficiency (CFPD), is caused by mutation in the PFC gene (CFP; 300383).
Description
Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune... | PROPERDIN DEFICIENCY, X-LINKED | c0398762 | 2,837 | omim | https://www.omim.org/entry/312060 | 2019-09-22T16:17:41 | {"omim": ["312060"], "orphanet": ["2966"], "synonyms": ["Alternative titles", "PROPERDIN P FACTOR DEFICIENCY", "COMPLEMENT FACTOR PROPERDIN DEFICIENCY", "PROPERDIN DEFICIENCY, TYPE I"]} |
Sessile serrated lesion
Other namesSessile serrated polyp (SSP)
Sessile serrated adenoma (SSA)
Micrograph of a sessile serrated lesion. H&E stain.
SpecialtyGastroenterology
SymptomsAsymptomatic
ComplicationsColorectal cancer
Diagnostic methodColonoscopy
TreatmentPolypectomy
A sessile serrated les... | Sessile serrated lesion | c2732618 | 2,838 | wikipedia | https://en.wikipedia.org/wiki/Sessile_serrated_lesion | 2021-01-18T18:46:51 | {"umls": ["C2732618"], "wikidata": ["Q15730674"]} |
Bladder exstrophy
Other namesEctopia vesicae
Female baby with classical bladder exstrophy
SpecialtyMedical genetics
Bladder exstrophy is a congenital anomaly that exists along the spectrum of the exstrophy-epispadias complex, and most notably involves protrusion of the urinary bladder through a defect ... | Bladder exstrophy | c0005689 | 2,839 | wikipedia | https://en.wikipedia.org/wiki/Bladder_exstrophy | 2021-01-18T18:50:36 | {"gard": ["6398"], "mesh": ["D001746"], "umls": ["C0005689"], "icd-10": ["Q64.1"], "orphanet": ["93930"], "wikidata": ["Q258858"]} |
A number sign (#) is used with this entry because familial hypertrophic cardiomyopathy-4 (CMH4) is caused by heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3; 600958) on chromosome 11p11.
For a phenotypic description and a discussion of gen... | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 | c1861862 | 2,840 | omim | https://www.omim.org/entry/115197 | 2019-09-22T16:43:43 | {"mesh": ["C566169"], "omim": ["115197"], "genereviews": ["NBK1768"]} |
Congenital disorder in which the pituitary stalk and pituitary are hypoplastic
Pituitary stalk interruption syndrome (PSIS)
Other namesEctopic neurohypophysis
The location of the pituitary gland within the skull (indicated in orange)
SpecialtyEndocrinology, neurology, neonatology, paediatrics
SymptomsHypogly... | Pituitary stalk interruption syndrome | c4053775 | 2,841 | wikipedia | https://en.wikipedia.org/wiki/Pituitary_stalk_interruption_syndrome | 2021-01-18T18:42:18 | {"umls": ["C4053775"], "wikidata": ["Q56277527"]} |
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: "Hyperchloremia" – news · newspapers · books · scholar · JSTOR (May 2015) (Learn how and when to remove this templat... | Hyperchloremia | c0085679 | 2,842 | wikipedia | https://en.wikipedia.org/wiki/Hyperchloremia | 2021-01-18T19:04:35 | {"icd-9": ["276.9"], "icd-10": ["E87.8"], "wikidata": ["Q5898267"]} |
sleeping phenomenon combined with wakefulness
This article is about the sleep disorder. For other uses, see Sleepwalking (disambiguation) and Sleepwalker (disambiguation).
Sleepwalking
John Everett Millais, The Somnambulist, 1871
SpecialtyPsychiatry, Sleep medicine
Sleepwalking, also known as somnambul... | Sleepwalking | c0037672 | 2,843 | wikipedia | https://en.wikipedia.org/wiki/Sleepwalking | 2021-01-18T18:38:52 | {"mesh": ["D013009"], "icd-9": ["307.4307.4"], "icd-10": ["F51.3"], "wikidata": ["Q388626"]} |
A number sign (#) is used with this entry because Wilson disease is caused by homozygous or compound heterozygous mutation in the ATP7B gene (606882) on chromosome 13q14.
Description
Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequ... | WILSON DISEASE | c0019202 | 2,844 | omim | https://www.omim.org/entry/277900 | 2019-09-22T16:21:12 | {"doid": ["893"], "mesh": ["D006527"], "omim": ["277900"], "icd-10": ["E83.01"], "orphanet": ["905"], "synonyms": ["Alternative titles", "WND", "HEPATOLENTICULAR DEGENERATION"], "genereviews": ["NBK1512"]} |
Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus ca... | Autosomal recessive spastic paraplegia type 32 | c1970009 | 2,845 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171622 | 2021-01-23T17:01:55 | {"gard": ["12749"], "mesh": ["C566983"], "omim": ["611252"], "umls": ["C1970009"], "icd-10": ["G11.4"], "synonyms": ["SPG32"]} |
Sitosterolemia
Other namesPhytosterolemia[1]:535
Autosomal recessive is the manner in which this condition is inherited.
SpecialtyEndocrinology
Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized by hyperabsorption and decreased biliary excretion of dietar... | Sitosterolemia | c2749759 | 2,846 | wikipedia | https://en.wikipedia.org/wiki/Sitosterolemia | 2021-01-18T18:45:14 | {"gard": ["7653"], "mesh": ["C537345"], "umls": ["C2749759"], "orphanet": ["2882", "101022"], "wikidata": ["Q1336034"]} |
## Description
A clustering of abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol (HDLC), high blood pressure, and elevated fasting glucose levels is sometimes called metabolic syndrome X (Reaven, 1988) or abdominal obesity-metabolic syndrome (Bjorntorp, 1991). The syndrom... | ABDOMINAL OBESITY-METABOLIC SYNDROME 1 | c1854178 | 2,847 | omim | https://www.omim.org/entry/605552 | 2019-09-22T16:11:11 | {"omim": ["605552"], "synonyms": ["Alternative titles", "METABOLIC SYNDROME X"]} |
Mucinous cystadenocarcinoma
Atypical goblet cells with focal tufting. The classification of these rare neoplasms is difficult and controversial. There appears to be a spectrum of mucinous cystic tumors ranging from those that are obviously benign (benign epithelium and no tumor invasion into surrounding lung) to th... | Mucinous cystadenocarcinoma | c0206699 | 2,848 | wikipedia | https://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma | 2021-01-18T18:52:04 | {"mesh": ["D018282"], "umls": ["C0206699"], "icd-10": ["C56.9"], "wikidata": ["Q6931140"]} |
Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations inc... | Contractures-ectodermal dysplasia-cleft lip/palate syndrome | c1844935 | 2,849 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1484 | 2021-01-23T18:24:44 | {"gard": ["1515"], "mesh": ["C538135", "C535465"], "omim": ["301815"], "umls": ["C1844935", "C2931745"], "icd-10": ["Q87.8"], "synonyms": ["Ladda-Zonana-Ramer syndrome"]} |
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including ... | Familial generalized lentiginosis | c3492944 | 2,850 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231040 | 2021-01-23T18:55:02 | {"mesh": ["C573023"], "omim": ["151001"], "icd-10": ["L81.4"], "synonyms": ["Familial lentigines profusa", "Familial multiple lentigines syndrome without systemic involvement"]} |
Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma that develops in the deep layers of the skin. It accounts for approximately 1% of all DFSP cases. Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-col... | Bednar tumor | c0334464 | 2,851 | gard | https://rarediseases.info.nih.gov/diseases/9624/bednar-tumor | 2021-01-18T18:01:50 | {"mesh": ["D018223"], "umls": ["C0334464"], "synonyms": ["Pigmented dermatofibrosarcoma protuberans"]} |
## Clinical Features
Dawson et al. (1979) described a patient with severe watery diarrhea and common variable immunodeficiency. Malabsorption for fat, bile acids, vitamin B12, and xylose was demonstrated. The diarrhea responded only to high-dose steroid therapy. Intestinal perfusion studies showed a hitherto undesc... | DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY | c1852087 | 2,852 | omim | https://www.omim.org/entry/125890 | 2019-09-22T16:42:16 | {"mesh": ["C565099"], "omim": ["125890"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-85 (RP85) is caused by homozygous mutation in the AHR gene (600253) on chromosome 7p21. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, se... | RETINITIS PIGMENTOSA 85 | c0035334 | 2,853 | omim | https://www.omim.org/entry/618345 | 2019-09-22T15:42:26 | {"mesh": ["D012174"], "omim": ["618345"], "orphanet": ["791"]} |
## Summary
### Clinical characteristics.
Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born asymptomatic but without treatment follow a predictable course:
* 12–24 hours: Elevated concentrations of branched-chain amino acids (BC... | Maple Syrup Urine Disease | c0024776 | 2,854 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1319/ | 2021-01-18T21:12:47 | {"mesh": ["D008375"], "synonyms": ["BCKD Deficiency", "Branched-Chain Ketoacid Dehydrogenase Deficiency", "Maple Syrup Disease", "MSUD"]} |
Not to be confused with Parkinson's disease.
Parkinsonism
SpecialtyNeurology
Causes
* Parkinson's disease
* Dementia with Lewy bodies
* Parkinson's disease dementia
* Other neurodegenerative disorders, including multiple system atrophy, progressive supranuclear palsy, and corticobasal degeneration
* D... | Parkinsonism | c0242422 | 2,855 | wikipedia | https://en.wikipedia.org/wiki/Parkinsonism | 2021-01-18T18:32:58 | {"mesh": ["D020734"], "umls": ["C0242422"], "icd-9": ["332"], "icd-10": ["G21", "G22"], "orphanet": ["68402"], "wikidata": ["Q1531991"]} |
Gram-negative rosacea
SpecialtyDermatology
Gram-negative rosacea is a cutaneous condition that clinically looks like stage II or III rosacea.[1]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed... | Gram-negative rosacea | None | 2,856 | wikipedia | https://en.wikipedia.org/wiki/Gram-negative_rosacea | 2021-01-18T19:05:19 | {"wikidata": ["Q5593572"]} |
Acute promyelocytic leukemia (APL) is an aggressive type of acute myeloid leukemia in which there are too many immature blood-forming cells (promyelocytes) in the blood and bone marrow. This build up of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body. The signs and ... | Acute promyelocytic leukemia | c0023487 | 2,857 | gard | https://rarediseases.info.nih.gov/diseases/538/acute-promyelocytic-leukemia | 2021-01-18T18:02:18 | {"mesh": ["D015473"], "omim": ["612376"], "umls": ["C0023487"], "orphanet": ["520"], "synonyms": ["Acute myeloblastic leukemia type 3", "Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants", "AML M3", "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants", "Acute myeloblastic leukemia 3", "APML"... |
Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart f... | Familial sick sinus syndrome | c0037052 | 2,858 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166282 | 2021-01-23T18:42:23 | {"mesh": ["D012804"], "omim": ["163800", "182190", "608567", "614090"], "umls": ["C0037052"], "icd-10": ["I49.5"]} |
Disease mongering
SpecialtyPharmaceutical lobby medicalization
Differential diagnosisquestionable disease
A collection of articles on disease mongering in PLoS Medicine (2006)
Disease mongering is a term for the practice of widening the diagnostic boundaries of illnesses and aggressively promoting their pub... | Disease mongering | None | 2,859 | wikipedia | https://en.wikipedia.org/wiki/Disease_mongering | 2021-01-18T19:02:39 | {"wikidata": ["Q1228633"]} |
Group of neurological disorders
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: "Gray matter heterotopia" – news · newspapers · books · scholar · JSTOR (October 20... | Gray matter heterotopia | c3806556 | 2,860 | wikipedia | https://en.wikipedia.org/wiki/Gray_matter_heterotopia | 2021-01-18T18:49:47 | {"umls": ["C3806556"], "wikidata": ["Q5598270"]} |
Anonychia congenita is a condition that affects the fingernails and toenails. Individuals with this condition are typically missing all of their fingernails and toenails (anonychia). This absence of nails is noticeable from birth (congenital). In some cases, only part of the nail is missing (hyponychia) or not all fi... | Anonychia congenita | c3277900 | 2,861 | medlineplus | https://medlineplus.gov/genetics/condition/anonychia-congenita/ | 2021-01-27T08:24:47 | {"gard": ["12930"], "omim": ["206800"], "synonyms": []} |
This article is about a medical condition. For other uses, see Frostbite (disambiguation).
Frostbite
Other namesFrostnip
Frostbitten toes two to three days after mountain climbing
SpecialtyDermatology Emergency medicine, orthopedics
SymptomsNumbness, feeling cold, clumsy, pale color[1]
ComplicationsHypothe... | Frostbite | c0016736 | 2,862 | wikipedia | https://en.wikipedia.org/wiki/Frostbite | 2021-01-18T19:01:01 | {"mesh": ["D005627"], "icd-9": ["991.0", "991.3"], "icd-10": ["T33", "T35"], "wikidata": ["Q1350326"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-27A (IMD27A), an autosomal recessive disorder, is caused by homozygous or compound heterozygous mutation in the IFNGR1 gene (107470) on chromosome 6q23.
Immunodeficiency-27B (IMD27B; 615978), an autosomal dominant disorder, is al... | IMMUNODEFICIENCY 27A | c2930924 | 2,863 | omim | https://www.omim.org/entry/209950 | 2019-09-22T16:30:36 | {"mesh": ["C535530"], "omim": ["209950"], "orphanet": ["99898", "319569"], "synonyms": ["Alternative titles", "IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE"]} |
Anisomastia, or mammary asymmetry, is a common problem in developing adolescent girls. Stratakis et al. (2000) evaluated a 22-year-old female patient who had severe anisomastia (which had been repaired by surgery) associated with moderate to severe mental retardation, a stocky body habitus with mild obesity, dysmorph... | ANISOMASTIA | c1854013 | 2,864 | omim | https://www.omim.org/entry/605746 | 2019-09-22T16:11:04 | {"mesh": ["C565299"], "omim": ["605746"]} |
IgG4-related dacryoadenitis and sialoadenitis (formerly called Mikulicz disease) is an IgG4-related disease characterized by inflammation of the lacrimal glands (which produce tears), parotid glands, and submandibular glands (two of the major salivary glands). In some cases, it also affects other glands or organs. Th... | IgG4-related dacryoadenitis and sialadenitis | c0026103 | 2,865 | gard | https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis | 2021-01-18T17:59:48 | {"mesh": ["D008882"], "umls": ["C0026103"], "orphanet": ["79078"], "synonyms": ["Mikulicz's disease (former)", "Mikulicz disease (former)", "Mikulicz syndrome (former)", "Chronic dacryoadenitis and sialadenitis"]} |
Bronchomalacia
Larynx, trachea and bronchi.
SpecialtyRespirology
Bronchomalacia is a term for weak cartilage in the walls of the bronchial tubes, often occurring in children under six months. Bronchomalacia means 'floppiness' of some part of the bronchi. Patients present with noisy breathing and/or wheezing.... | Bronchomalacia | c0264353 | 2,866 | wikipedia | https://en.wikipedia.org/wiki/Bronchomalacia | 2021-01-18T18:52:03 | {"mesh": ["D055091"], "umls": ["C0264353"], "icd-9": ["748.3"], "icd-10": ["Q32.2"], "wikidata": ["Q4973832"]} |
A Rickettsial disease characterized by malaise and vague symptoms before the onset of high fever, headache, severe myalgias and less commonly petechial rash on the trunk and limbs, nausea, vomiting, coughing and pneumonia. Most patients also have some central nervous system disturbances, such as meningeal irritat... | Epidemic typhus | c0041473 | 2,867 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83314 | 2021-01-23T18:44:13 | {"mesh": ["D014438"], "umls": ["C0041473"], "icd-10": ["A75.0"]} |
A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.
## Epidemiology
The prevalence is unknown. The disorder has been reported worldwide but is more commonly observed in the Indian subcontinent where t... | Eales disease | c0271073 | 2,868 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=40923 | 2021-01-23T19:06:20 | {"gard": ["6309"], "mesh": ["C538011"], "umls": ["C0271073"], "icd-10": ["H35.0"], "synonyms": ["Idiopathic retinal perivasculitis", "Idiopathic retinal vasculitis"]} |
A number sign (#) is used with this entry because familial Creutzfeldt-Jakob disease can be caused by mutation in the prion protein gene (PRNP; 176640).
Gerstmann-Straussler disease (GSD; 137440) and familial fatal insomnia (FFI; 600072) are 2 other allelic inherited prion diseases caused by mutation in the PRNP gen... | CREUTZFELDT-JAKOB DISEASE | c0022336 | 2,869 | omim | https://www.omim.org/entry/123400 | 2019-09-22T16:42:47 | {"doid": ["11949"], "mesh": ["D007562"], "omim": ["123400"], "icd-9": ["046.11", "046.1"], "icd-10": ["A81.0", "A81.01", "A81.00", "A81.09"], "orphanet": ["204", "454700", "282166"], "synonyms": ["Alternative titles", "CREUTZFELDT-JAKOB DISEASE, FAMILIAL"], "genereviews": ["NBK1229"]} |
Singleton et al. (1960) reported a form of dysostosis limited essentially to the tubular bones of the hands and feet. The epiphyses in the fingers are conical with their apex set into the metaphyseal ends of the phalanges (which look like the bottom of wine bottles). The cone-shaped epiphyses in the phalanges with a ... | PERIPHERAL DYSOSTOSIS | c0220659 | 2,870 | omim | https://www.omim.org/entry/170700 | 2019-09-22T16:36:26 | {"mesh": ["C538179"], "omim": ["170700"], "orphanet": ["1795"], "synonyms": []} |
Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profo... | Congenital isolated hyperinsulinism | c0027773 | 2,871 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=657 | 2021-01-23T18:07:09 | {"gard": ["3947"], "mesh": ["D044903", "D046768"], "umls": ["C0027773", "C1257959", "C3888018"], "icd-10": ["E16.1"], "synonyms": ["CHI", "PHHI", "Persistent hyperinsulinemic hypoglycemia of infancy"]} |
Dilated cardiomyopathy with hypergonadotropic hypogonadism (DCMHH) is a condition that primarily affects the heart and gonads (male testes or female ovaries). It is characterized by a disease of the heart muscle (dilated cardiomyopathy) and little or no production of sex hormones due to a problem with the pituitary g... | Dilated cardiomyopathy with hypergonadotropic hypogonadism | c0796031 | 2,872 | gard | https://rarediseases.info.nih.gov/diseases/3373/dilated-cardiomyopathy-with-hypergonadotropic-hypogonadism | 2021-01-18T18:00:52 | {"mesh": ["C535703"], "omim": ["212112"], "umls": ["C0796031"], "orphanet": ["2229"], "synonyms": ["Cardiogenital syndrome", "Najjar syndrome", "Malouf syndrome", "Genital anomaly with cardiomyopathy", "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"]} |
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial... | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | None | 2,873 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=440354 | 2021-01-23T17:05:10 | {"synonyms": ["Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome"]} |
Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.
## Clinical description
Characteristic clinical features include slow growth, bone pain and bone deformities.
## Etiology
These diseases comprise the FGF23-dependent forms (X-lin... | Hypophosphatemic rickets | c1704375 | 2,874 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=437 | 2021-01-23T17:14:44 | {"gard": ["6735"], "mesh": ["D063730"], "umls": ["C1704375", "C2363065", "C3536983"], "icd-10": ["E83.3"]} |
Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over ti... | Keratoconus | c0022578 | 2,875 | gard | https://rarediseases.info.nih.gov/diseases/6824/keratoconus | 2021-01-18T17:59:37 | {"mesh": ["D007640"], "omim": ["148300"], "umls": ["C0022578"], "orphanet": ["156071"], "synonyms": ["Noninflammatory corneal thining", "KC"]} |
A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to ma... | NUT midline carcinoma | c1707291 | 2,876 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=443167 | 2021-01-23T17:52:30 | {"icd-10": ["C80.9"], "synonyms": ["NMC"]} |
A number sign (#) is used with this entry because of evidence that keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) is caused by homozygous mutation in the POMP gene (613386) on chromosome 13q12.
Clinical Features
Pujol et al. (1989) described 4 Spanish sibs with an autosomal recessiv... | KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA | c1866029 | 2,877 | omim | https://www.omim.org/entry/601952 | 2019-09-22T16:14:09 | {"mesh": ["C566600"], "omim": ["601952"], "orphanet": ["281201"], "synonyms": ["Alternative titles", "KLICK SYNDROME"]} |
Secondary hypertension
SpecialtyCardiology, nephrology
Secondary hypertension (or, less commonly, inessential hypertension) is a type of hypertension which by definition is caused by an identifiable underlying primary cause. It is much less common than the other type, called essential hypertension, affecting o... | Secondary hypertension | c0155616 | 2,878 | wikipedia | https://en.wikipedia.org/wiki/Secondary_hypertension | 2021-01-18T19:08:55 | {"umls": ["C0155616"], "wikidata": ["Q987319"]} |
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltra... | Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) | c4706584 | 2,879 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402023 | 2021-01-23T17:48:35 | {"icd-10": ["C94.2"], "synonyms": ["Megakaryoblastic AML with t(1;22)(p13;q13)"]} |
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years, progressive Alzheimer's disease-like dementia, and absence of intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation ca... | ABeta amyloidosis, Arctic type | c2931672 | 2,880 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324723 | 2021-01-23T19:00:22 | {"mesh": ["C537944"], "omim": ["605714"], "icd-10": ["E85.4+", "I68.0*"], "synonyms": ["ABetaE22G amyloidosis", "HCHWA, Arctic type", "Hereditary cerebral hemorrhage with amyloidosis, Arctic type"]} |
Macroorchidism
SpecialtyUrology
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (December 2013) (Learn how and when to remove this templat... | Macroorchidism | c1263023 | 2,881 | wikipedia | https://en.wikipedia.org/wiki/Macroorchidism | 2021-01-18T18:38:06 | {"umls": ["C1263023"], "wikidata": ["Q6725487"]} |
Condition in which a patient is aware but completely paralysed
Locked-in syndrome
Other namesCerebromedullospinal disconnection,[1] de-efferented state, pseudocoma,[2] ventral pontine syndrome
Locked-in syndrome can be caused by a stroke at the level of the basilar artery denying blood to the pons, among oth... | Locked-in syndrome | c0023944 | 2,882 | wikipedia | https://en.wikipedia.org/wiki/Locked-in_syndrome | 2021-01-18T18:53:08 | {"gard": ["6919"], "mesh": ["D011782"], "umls": ["C0023944"], "orphanet": ["2406"], "wikidata": ["Q794457"]} |
Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.
Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly fema... | Aromatase deficiency | c1960539 | 2,883 | medlineplus | https://medlineplus.gov/genetics/condition/aromatase-deficiency/ | 2021-01-27T08:25:37 | {"gard": ["365"], "mesh": ["C537436"], "omim": ["613546"], "synonyms": []} |
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an inherited condition that causes overactivity of the parathyroid glands (hyperparathyroidism). These glands regulate the body's use of calcium, so overactivity can lead to high calcium levels in the blood (hypercalcemia). The syndrome typically begins in late adole... | Hyperparathyroidism-jaw tumor syndrome | c1704981 | 2,884 | gard | https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome | 2021-01-18T17:59:56 | {"mesh": ["C563273"], "omim": ["145001"], "orphanet": ["99880"], "synonyms": ["HPT-JT", "Hyperparathyroidism 2", "HRPT2", "Familial primary hyperparathyroidism with multiple ossifying jaw fibromas", "Hereditary hyperparathyroidism-jaw tumor syndrome"]} |
A number sign (#) is used with this entry because of evidence that Brugada syndrome-9 (BRGDA9) is caused by heterozygous mutation in the KCND3 gene (605411) on chromosome 1p13.
Description
Brugada syndrome is characterized by ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG... | BRUGADA SYNDROME 9 | c1142166 | 2,885 | omim | https://www.omim.org/entry/616399 | 2019-09-22T15:49:04 | {"doid": ["0110226"], "mesh": ["D053840"], "omim": ["616399"], "orphanet": ["130"], "genereviews": ["NBK1517"]} |
Gnathitis
SpecialtyENT surgery
Gnathitis is jaw inflammation.[1]
## References[edit]
1. ^ "Gnathitis" at Dorland's Medical Dictionary
## External links[edit]
Classification
D
* ICD-10: K10.2
* ICD-9-CM: 526.4
* v
* t
* e
Dental disease involving the jaw
General
* Jaw abnormali... | Gnathitis | None | 2,886 | wikipedia | https://en.wikipedia.org/wiki/Gnathitis | 2021-01-18T18:28:00 | {"icd-9": ["526.4"], "icd-10": ["K10.2"], "wikidata": ["Q2553217"]} |
## Description
Stature (adult height) is an example of a complex genetic trait involving multiple genetic loci. Although complex traits are often difficult to study by linkage analysis, Hirschhorn et al. (2001) suggested that stature is a suitable complex trait for study because of the high heritability and the... | STATURE AS A QUANTITATIVE TRAIT | c1853478 | 2,887 | omim | https://www.omim.org/entry/606255 | 2019-09-22T16:10:33 | {"omim": ["606255"]} |
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.
*[v]: View this template
*[t]: Discus... | Ptosis-vocal cord paralysis syndrome | c1860403 | 2,888 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2997 | 2021-01-23T17:15:03 | {"gard": ["427"], "mesh": ["C536923"], "omim": ["193240"], "umls": ["C1860403"], "synonyms": ["Tucker syndrome"]} |
A number sign (#) is used with this entry because of evidence that hyperprolactinemia (HPRL) is caused by heterozygous or compound heterozygous mutation in the PRLR gene (176761) on chromosome 5p13.
Description
Hyperprolactinemia unrelated to pregnancy occurs in approximately 0.1 to 0.3% of the general population a... | HYPERPROLACTINEMIA | c0020514 | 2,889 | omim | https://www.omim.org/entry/615555 | 2019-09-22T15:51:37 | {"mesh": ["D006966"], "omim": ["615555"], "icd-10": ["E22.1"], "orphanet": ["397685"], "synonyms": ["Familial isolated prolactin receptor deficiency"]} |
Urban–Rogers–Meyer syndrome
Other namesPrader–Willi habitus, osteopenia, and camptodactyly
This condition is inherited in an autosomal recessive manner
SpecialtyMedical genetics
Urban–Rogers–Meyer syndrome, also known as Prader–Willi habitus, osteopenia, and camptodactyly or Urban syndrome,[1] is an extrem... | Urban–Rogers–Meyer syndrome | c0796189 | 2,890 | wikipedia | https://en.wikipedia.org/wiki/Urban%E2%80%93Rogers%E2%80%93Meyer_syndrome | 2021-01-18T18:32:17 | {"gard": ["5426"], "mesh": ["C538276"], "umls": ["C0796189"], "orphanet": ["3409"], "wikidata": ["Q7900262"]} |
An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
## Epidemiology
Congenital amegakaryocytic thrombocytopenia (CAMT... | Congenital amegakaryocytic thrombocytopenia | c1327915 | 2,891 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3319 | 2021-01-23T18:56:33 | {"gard": ["640"], "mesh": ["C535982"], "omim": ["604498"], "umls": ["C1327915"], "icd-10": ["D61.0"], "synonyms": ["CAMT"]} |
Keratoconus is an eye condition that affects the shape of the cornea, which is the clear outer covering of the eye. In this condition, the cornea thins and bulges outward, eventually resembling a cone shape. These corneal abnormalities, which worsen over time, can lead to nearsightedness (myopia), blurred vision that... | Keratoconus | c1835677 | 2,892 | medlineplus | https://medlineplus.gov/genetics/condition/keratoconus/ | 2021-01-27T08:25:19 | {"gard": ["6824"], "mesh": ["C563649"], "omim": ["148300", "608932", "608586", "609271", "614622", "614623", "614629", "614628"], "synonyms": []} |
Sialolithiasis
Calculi (salivary gland stones) removed from the sublingual gland
SpecialtyOral surgery
Sialolithiasis (also termed salivary calculi,[1] or salivary stones),[1] is a condition where a calcified mass or sialolith forms within a salivary gland, usually in the duct of the submandibular gland (als... | Sialolithiasis | c0036091 | 2,893 | wikipedia | https://en.wikipedia.org/wiki/Sialolithiasis | 2021-01-18T18:57:20 | {"mesh": ["D020792", "D015494"], "umls": ["C0036091"], "wikidata": ["Q1627831"]} |
## Clinical Features
Congenital palatopharyngeal incompetence is characterized by cleft palate speech (rhinolalia aperta) in the absence of overt cleft palate. About a fourth of cases are 'unmasked' by adenoidectomy. Abnormalities of the uvula, soft palate and hard palate may be visible. The inability to limit ... | PALATOPHARYNGEAL INCOMPETENCE | c1997202 | 2,894 | omim | https://www.omim.org/entry/167500 | 2019-09-22T16:36:46 | {"omim": ["167500"], "orphanet": ["2291"], "synonyms": ["Alternative titles", "VELOPHARYNGEAL INCOMPETENCE", "VELOPHARYNGEAL INSUFFICIENCY"]} |
Granulomatous prostatitis
Micrograph showing a granulomatous prostatitis due to BCG treatment for bladder cancer. H&E stain.
SpecialtyUrology
Granulomatous prostatitis is an uncommon disease of the prostate, an exocrine gland of the male reproductive system. It is a form of prostatitis (prostate inflammation... | Granulomatous prostatitis | c0018204 | 2,895 | wikipedia | https://en.wikipedia.org/wiki/Granulomatous_prostatitis | 2021-01-18T19:00:10 | {"umls": ["C0018204"], "wikidata": ["Q5596833"]} |
Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by Streptobacillus moniliformis or Spirillum minus-infected rats and characterized by high fever, a rash on the extremities, and arthralgia.
## Epidemiology
The exact incidence is unknown.
## Clini... | Rat-bite fever | c0034686 | 2,896 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=31205 | 2021-01-23T17:22:52 | {"gard": ["9557"], "mesh": ["D011906"], "umls": ["C0034686"], "icd-10": ["A25.0", "A25.1", "A25.9"]} |
A number sign (#) is used with this entry because of evidence that type 2 (incomplete) X-linked congenital stationary night blindness is caused by mutation in the retina-specific calcium channel alpha-1-subunit gene (CACNA1F; 300110). Aland Island eye disease (300600), which has a similar phenotype, is caused by muta... | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | c0339535 | 2,897 | omim | https://www.omim.org/entry/300071 | 2019-09-22T16:20:54 | {"doid": ["0110871"], "mesh": ["C536122"], "omim": ["300071"], "orphanet": ["215"], "synonyms": ["Alternative titles", "CSNB, INCOMPLETE, X-LINKED", "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2"], "genereviews": ["NBK1245"]} |
A rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).
## Epidemiology
Exact prevalence is unknown but is likely to be around 1/5,000.
## Clinical description
CHH ... | Isolated congenital hypogonadotropic hypogonadism | None | 2,898 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238666 | 2021-01-23T18:04:39 | {"icd-10": ["E23.0"], "synonyms": ["Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "Isolated gonadotropin-releasing hormone deficiency"]} |
Benign type of pneumoconiosis
Baritosis
Barium
SpecialtyPulmonology
Baritosis is a benign type of pneumoconiosis, which is caused by long-term exposure to barium dust.
Barium has a high radio-opacity and the disease may develop after few months of exposure. Extremely dense, discrete small opacities of 2–4 ... | Baritosis | c0340177 | 2,899 | wikipedia | https://en.wikipedia.org/wiki/Baritosis | 2021-01-18T18:50:26 | {"gard": ["8371"], "mesh": ["C537080"], "umls": ["C0340177"], "icd-9": ["503"], "wikidata": ["Q2906693"]} |
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