text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 (605462).
Mapping
In a genomewide association study of 3,473 basal cell carcinoma (BCC) cases and 37,915 controls of European ancestry, Stacey et al. (2009) detected significant association of the A alle... | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 4 | c2751602 | 500 | omim | https://www.omim.org/entry/613061 | 2019-09-22T15:59:53 | {"omim": ["613061"]} |
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of th... | Myotonia congenita | c2936781 | 501 | medlineplus | https://medlineplus.gov/genetics/condition/myotonia-congenita/ | 2021-01-27T08:24:35 | {"gard": ["12301"], "mesh": ["D009224"], "omim": ["160800", "255700"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) is caused by heterozygous mutation in the DHX30 gene (DHX30; 616423) on chromosome 3p21.
Description
NEDMIAL is a neurodevelopmental disorder characterized by sev... | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | c4540496 | 502 | omim | https://www.omim.org/entry/617804 | 2019-09-22T15:44:43 | {"omim": ["617804"]} |
A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopeni... | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | c4015214 | 503 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436159 | 2021-01-23T18:12:36 | {"gard": ["12316"], "omim": ["616100"], "icd-10": ["D84.8"], "synonyms": ["ALPS due to CTLA4 haploinsuffiency", "CHAI", "CTLA-4 haploinsufficiency with autoimmune infiltration disease"]} |
## Description
Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996).
For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720).
Mapping
To re... | BILIARY CIRRHOSIS, PRIMARY, 4 | c0008312 | 504 | omim | https://www.omim.org/entry/614220 | 2019-09-22T15:56:08 | {"doid": ["12236"], "mesh": ["D008105"], "omim": ["614220"], "orphanet": ["186"]} |
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders,... | Mitochondrial DNA depletion syndrome, encephalomyopathic form | c2749864 | 505 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254803 | 2021-01-23T17:21:00 | {"omim": ["612073", "612075"], "icd-10": ["E88.8"], "synonyms": ["mtDNA depletion syndrome, encephalomyopathic form"]} |
A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.
*[v]: View this template
*[t]: Discuss t... | Oromandibular dystonia | c0393607 | 506 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93958 | 2021-01-23T17:57:03 | {"umls": ["C0393607"], "icd-10": ["G24.4"]} |
Megaesophagus
Other namesEsophageal dilatation
Chagas megaseophagus
SpecialtyGastroenterology
Megaesophagus, also known as esophageal dilatation, is a disorder of the esophagus in humans and other mammals, whereby the esophagus becomes abnormally enlarged. Megaesophagus may be caused by any disease which c... | Megaesophagus | c0025164 | 507 | wikipedia | https://en.wikipedia.org/wiki/Megaesophagus | 2021-01-18T18:28:42 | {"mesh": ["D004931"], "umls": ["C0025164"], "icd-9": ["530.0"], "wikidata": ["Q1713499"]} |
A number sign (#) is used with this entry because spastic ataxia of the Charlevoix-Saguenay type (SACS, or ARSACS) is caused by homozygous or compound heterozygous mutation in the gene encoding the sacsin protein (SACS; 604490) on chromosome 13q12
For a discussion of genetic heterogeneity of spastic ataxia, see ... | SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE | c1849140 | 508 | omim | https://www.omim.org/entry/270550 | 2019-09-22T16:22:15 | {"doid": ["0050946"], "mesh": ["C536787"], "omim": ["270550"], "orphanet": ["98"], "synonyms": ["Alternative titles", "SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE", "CHARLEVOIX-SAGUENAY SPASTIC ATAXIA", "AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY"], "genereviews": ["NBK1255"]} |
A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syn... | ALG1-CDG | c2931005 | 509 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79327 | 2021-01-23T18:50:20 | {"gard": ["9838"], "mesh": ["C535749"], "omim": ["608540"], "umls": ["C2931005"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type Ik", "CDG-Ik", "CDG1K", "Carbohydrate deficient glycoprotein syndrome type Ik", "Congenital disorder of glycosylation type 1k", "Congenital disorder of glycosylation type Ik", "Mannosyl... |
A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median surviva... | Refractory anemia with excess blasts type 1 | c1318550 | 510 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100019 | 2021-01-23T18:00:05 | {"umls": ["C1318550"], "icd-10": ["D46.2"], "synonyms": ["RAEB-1"]} |
A number sign (#) is used with this entry because autosomal recessive dyskeratosis congenita-2 (DKCB2) is caused by homozygous or compound heterozygous mutation in the NOLA2 gene (606470), also known as NHP2, on chromosome 5q35.
Description
Dyskeratosis congenita is a multisystem disorder caused by defective telome... | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 | c0265965 | 511 | omim | https://www.omim.org/entry/613987 | 2019-09-22T15:56:52 | {"doid": ["0070017"], "mesh": ["D019871"], "omim": ["613987"], "orphanet": ["1775"], "genereviews": ["NBK22301"]} |
A number sign (#) is used with this entry because of evidence that arrhythmogenic right ventricular dysplasia-8 (ARVD8) is caused by heterozygous mutation in the gene encoding desmoplakin (DSP; 125647) on chromosome 6p24.
Description
ARVD8 is characterized by progressive degeneration of the right ventricular myocar... | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | c1862511 | 512 | omim | https://www.omim.org/entry/607450 | 2019-09-22T16:09:16 | {"doid": ["0110076"], "mesh": ["C566254"], "omim": ["107970", "607450"], "orphanet": ["217656"], "synonyms": ["Familial isolated ARVD", "Familial isolated ARVC", "Alternative titles", "Familial isolated arrhythmogenic ventricular dysplasia", "Familial isolated arrhythmogenic ventricular cardiomyopathy", "Familial isola... |
Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Blister formation decreases, but may still occur after... | Epidermolytic ichthyosis | c0079153 | 513 | gard | https://rarediseases.info.nih.gov/diseases/1039/epidermolytic-ichthyosis | 2021-01-18T18:00:41 | {"mesh": ["D017488"], "omim": ["113800"], "orphanet": ["312"], "synonyms": ["Bullous congenital ichthyosiform erythroderma", "epidermolytic hyperkeratosis", "EHK", "Congenital bullous ichthyosiform erythroderma", "BCIE", "Bullous ichthyosiform erythroderma congenita", "Bullous ichthyosiform erythroderma", "Bullous eryt... |
Arteriolosclerosis
Right breast mammograms showing several calcified arterioles. Patient 94 years old.
SpecialtyCardiology
Arteriolosclerosis is a form of cardiovascular disease involving hardening and loss of elasticity of arterioles or small arteries and is most often associated with hypertension and diabe... | Arteriolosclerosis | c0878486 | 514 | wikipedia | https://en.wikipedia.org/wiki/Arteriolosclerosis | 2021-01-18T18:40:56 | {"mesh": ["D050379"], "umls": ["C0878486"], "wikidata": ["Q4797547"]} |
A number sign (#) is used with this entry because alacrima, achalasia, and mental retardation syndrome (AAMR) is caused by homozygous mutation in the GMPPA gene (615495) on chromosome 2q35.
Description
Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized b... | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | c0271742 | 515 | omim | https://www.omim.org/entry/615510 | 2019-09-22T15:51:52 | {"mesh": ["C536008"], "omim": ["615510"], "orphanet": ["869"]} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (NEDMEHM) is caused by compound heterozygous mutation in the MTHFS gene (604197) on chromosome 15q25.
Clinical Features
Rodan et al. (2018) reported 2 unrelated patients, a... | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION | None | 516 | omim | https://www.omim.org/entry/618367 | 2019-09-22T15:42:17 | {"omim": ["618367"]} |
Tricho-hepato-enteric syndrome
Other namesIntractable diarrhea of infancy with facial dysmorphism[1]
Typical facial abnormalities with prominent forehead and cheeks, broad nasal root and wide-spaced eyes. Abnormal hairs are woolly, easily removed and poorly pigmented.
Tricho-hepato-enteric syndrome (THE), al... | Tricho-hepato-enteric syndrome | c1857276 | 517 | wikipedia | https://en.wikipedia.org/wiki/Tricho-hepato-enteric_syndrome | 2021-01-18T18:30:03 | {"gard": ["5258"], "mesh": ["C565627"], "umls": ["C1857276"], "orphanet": ["84064"], "wikidata": ["Q7840696"]} |
A number sign (#) is used with this entry because of evidence that ectodermal dysplasia-4 (ECTD4) is caused by homozygous mutation in the KRTHB5 gene (KRT85; 602767) on chromosome 12q13.
Description
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2... | ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE | c1865951 | 518 | omim | https://www.omim.org/entry/602032 | 2019-09-22T16:14:05 | {"mesh": ["C566592"], "omim": ["602032"], "orphanet": ["69084"], "synonyms": ["Alternative titles", "ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE"]} |
Chromium deficiency
Chromium
SpecialtyEndocrinology
Chromium deficiency is described as the consequence of an insufficient dietary intake of the mineral chromium. Chromium was first proposed as an essential element for normal glucose metabolism in 1959,[1] and was widely accepted as being such by the 1990s.[... | Chromium deficiency | c0268093 | 519 | wikipedia | https://en.wikipedia.org/wiki/Chromium_deficiency | 2021-01-18T18:49:02 | {"umls": ["C0268093"], "icd-10": ["E61.4"], "wikidata": ["Q5113829"]} |
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and ... | Autosomal recessive spastic paraplegia type 55 | c3539506 | 520 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=320375 | 2021-01-23T17:02:07 | {"omim": ["615035"], "icd-10": ["G11.4"], "synonyms": ["SPG55"]} |
Laron syndrome is a condition that occurs when the body is unable to utilize growth hormone. It is primarily characterized by short stature. Other signs and symptoms vary but may include reduced muscle strength and endurance; hypoglycemia in infancy; delayed puberty; short limbs (arms and legs); and obesity. It is of... | Laron syndrome | c0271568 | 521 | gard | https://rarediseases.info.nih.gov/diseases/6859/laron-syndrome | 2021-01-18T17:59:31 | {"mesh": ["D046150"], "omim": ["262500"], "umls": ["C0271568"], "orphanet": ["633"], "synonyms": ["Growth hormone insensitivity syndrome", "Pituitary dwarfism II", "Growth hormone receptor deficiency", "Primary growth hormone resistance", "Primary growth hormone insensitivity", "Laron dwarfism", "Laron type pituitary d... |
## Description
Adiposis dolorosa, also known as Dercum disease, is characterized by generalized obesity and pronounced, disabling, and chronic pain in the adipose tissue of the proximal extremities, trunk, pelvic area, and buttocks; the face and hands are usually spared. There are a number of associated symptoms, i... | ADIPOSIS DOLOROSA | c0001529 | 522 | omim | https://www.omim.org/entry/103200 | 2019-09-22T16:45:16 | {"doid": ["3928"], "mesh": ["D000274"], "omim": ["103200"], "icd-10": ["E88.2"], "orphanet": ["36397"], "synonyms": ["Alternative titles", "DERCUM DISEASE"]} |
A number sign (#) is used with this entry because of evidence that Loeys-Dietz syndrome-3 (LDS3) is caused by heterozygous mutation in the SMAD3 gene (603109) on chromosome 15q.
For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1A (609192).
Clinical Featu... | LOEYS-DIETZ SYNDROME 3 | c3151087 | 523 | omim | https://www.omim.org/entry/613795 | 2019-09-22T15:57:29 | {"doid": ["0070237"], "omim": ["613795"], "orphanet": ["284984"], "synonyms": ["ANEURYSMS-OSTEOARTHRITIS SYNDROME", "Alternative titles", "LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS", "LOEYS-DIETZ SYNDROME, TYPE 1C, FORMERLY"], "genereviews": ["NBK1133"]} |
A number sign (#) is used with this entry because of evidence that sick sinus syndrome-2 (SSS2) is caused by heterozygous mutation in the cardiac pacemaker channel gene HCN4 (605206) on chromosome 15q24.
For a general description and a discussion of genetic heterogeneity of sick sinus syndrome (SSS), see 608567.
Cl... | SICK SINUS SYNDROME 2 | c0037052 | 524 | omim | https://www.omim.org/entry/163800 | 2019-09-22T16:37:21 | {"doid": ["13884"], "mesh": ["D012804"], "omim": ["163800"], "orphanet": ["166282"], "synonyms": ["Alternative titles", "SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION", "ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA", "SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT", "SINUS BR... |
A number sign (#) is used with this entry because single-nucleotide variation in the promoter region of the MSMB gene (157145) has been associated with the development of prostate cancer.
For a general discussion of hereditary prostate cancer, see 176807.
Molecular Genetics
In a large 2-stage genomewide associatio... | PROSTATE CANCER, HEREDITARY, 13 | c2931456 | 525 | omim | https://www.omim.org/entry/611928 | 2019-09-22T16:02:37 | {"doid": ["10283"], "mesh": ["C537243"], "omim": ["611928"], "orphanet": ["1331"]} |
Condition in which tumours stimulate excessive gastric acid production
Zollinger–Ellison syndrome
Other namesgastrinoma, pancreatic ulcerogenic tumor syndrome, ZES, Z-E syndrome[1]
Endoscopy image of multiple small ulcers in the distal duodenum in a patient with Zollinger–Ellison syndrome
SpecialtyEndocrinolog... | Zollinger–Ellison syndrome | c0043515 | 526 | wikipedia | https://en.wikipedia.org/wiki/Zollinger%E2%80%93Ellison_syndrome | 2021-01-18T18:32:04 | {"gard": ["7918"], "mesh": ["D015043"], "umls": ["C0043515"], "icd-9": ["251.5"], "orphanet": ["913"], "wikidata": ["Q218712"]} |
Provisional name given to any recently discovered coronavirus of medical significance
This article is about the naming of newly discovered coronaviruses. For the 2019 virus, see Severe acute respiratory syndrome coronavirus 2. For the ongoing pandemic, see COVID-19 pandemic.
Look up nCoV in Wiktionary, the free... | Novel coronavirus | None | 527 | wikipedia | https://en.wikipedia.org/wiki/Novel_coronavirus | 2021-01-18T19:10:31 | {"wikidata": ["Q84497971"]} |
Saal Bulas syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Saal Bulas syndrome, or a subtype of Saal Bulas syndrome, affects fewer than 200,000 people in the US population.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
... | Saal Bulas syndrome | c2931439 | 528 | wikipedia | https://en.wikipedia.org/wiki/Saal_Bulas_syndrome | 2021-01-18T19:01:23 | {"gard": ["311"], "mesh": ["C537193"], "umls": ["C2931439"], "wikidata": ["Q7395633"]} |
A number sign (#) is used with this entry because Duane-radial ray syndrome (DRRS) is caused by heterozygous mutation in the SALL4 gene (607343) on chromosome 20q13.
The IVIC syndrome (147750) is an allelic disorder with a similar phenotype.
Description
Duane-radial ray syndrome, also known as Okihiro syndrome, is... | DUANE-RADIAL RAY SYNDROME | c1623209 | 529 | omim | https://www.omim.org/entry/607323 | 2019-09-22T16:09:29 | {"doid": ["0060747"], "mesh": ["D004370"], "omim": ["607323"], "orphanet": ["93293", "959"], "synonyms": ["Alternative titles", "OKIHIRO SYNDROME", "DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS", "DR SYNDROME", "ACRORENOOCULAR SYNDROME"], "genereviews": ["NBK1373"]} |
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated ... | Mendelian susceptibility to mycobacterial diseases | c3266863 | 530 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=748 | 2021-01-23T18:20:17 | {"gard": ["12977"], "mesh": ["D009165"], "umls": ["C3266863"], "icd-10": ["D84.8"], "synonyms": ["Idiopathic infection caused by BCG or atypical mycobacteria", "MSMD", "Mendelian susceptibility to atypical mycobacteria", "Mendelian susceptibility to mycobacterial infections"]} |
Autoimmune skin condition
Discoid lupus erythematosus
Other namesDLE or Discoid lupus
Discoid lupus erythematosus lesion on the face of musician Seal.
SpecialtyDermatology
Discoid lupus erythematosus is the most common type of chronic cutaneous lupus (CCLE), an autoimmune skin condition on the lupus eryth... | Discoid lupus erythematosus | c0024138 | 531 | wikipedia | https://en.wikipedia.org/wiki/Discoid_lupus_erythematosus | 2021-01-18T18:37:20 | {"mesh": ["D008179"], "umls": ["C0024138"], "icd-9": ["695.4"], "icd-10": ["L93.0"], "orphanet": ["90281"], "wikidata": ["Q1228801"]} |
Domestic sheep lamb once each year and most breeds have 1 or 2 lambs at each lambing. The Booroola Merino is of particular interest because it frequently has litter sizes of 3 or more and the exceptional reproductive performance segregates as a single gene. Merino sheep carrying this mutation were identified and ... | FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF | c1851318 | 532 | omim | https://www.omim.org/entry/134720 | 2019-09-22T16:41:13 | {"omim": ["134720"], "synonyms": ["Alternative titles", "FECB"]} |
GRN-related frontotemporal lobar degeneration is a progressive brain disorder that can affect behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people typically survive 7 to 13 years after the appearance of symptoms. However, sympt... | GRN-related frontotemporal lobar degeneration | c1843792 | 533 | medlineplus | https://medlineplus.gov/genetics/condition/grn-related-frontotemporal-lobar-degeneration/ | 2021-01-27T08:25:25 | {"omim": ["607485"], "synonyms": []} |
Harding ataxia
Other namesEarly onset cerebellar ataxia with retained reflexes (EOCARR)
Harding ataxia has an autosomal recessive pattern of inheritance.
SpecialtyNeurology
Harding ataxia is an autosomal recessive cerebellar ataxia originally described by Harding in 1981.[1] This form of cerebellar ataxia ... | Harding ataxia | c0393520 | 534 | wikipedia | https://en.wikipedia.org/wiki/Harding_ataxia | 2021-01-18T18:40:06 | {"gard": ["2600"], "mesh": ["C535633"], "umls": ["C0393520"], "icd-9": [], "icd-10": [], "orphanet": ["1177"], "wikidata": ["Q5656137"]} |
Pityriasis rosea
Other namesPityriasis rosea Gibert[1]
Pityriasis rosea on the back
showing a "christmas tree" pattern
SpecialtyDermatology, Infectious disease
SymptomsSingle red and slightly scaly area, followed
Usual onset10 to 35 years old[2]
DurationLess than three months[2]
CausesUnclear[3] ... | Pityriasis rosea | c0032026 | 535 | wikipedia | https://en.wikipedia.org/wiki/Pityriasis_rosea | 2021-01-18T18:39:11 | {"mesh": ["D017515"], "umls": ["C0032026"], "wikidata": ["Q1125160"]} |
Goodman et al. (1980) reported the cases of 2 Ashkenazi Jewish brothers with a 'new' syndrome of white forelock (poliosis), distinctive facial features and congenital malformations of the ocular, cardiopulmonary and skeletal systems. Ocular hypertelorism, atrial septal defect, prominent thoracic and abdominal vei... | WHITE FORELOCK WITH MALFORMATIONS | c1848463 | 536 | omim | https://www.omim.org/entry/277740 | 2019-09-22T16:21:10 | {"mesh": ["C536700"], "omim": ["277740"], "orphanet": ["2475"]} |
Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died sh... | Ulbright-Hodes syndrome | c1849438 | 537 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3404 | 2021-01-23T17:50:08 | {"gard": ["5394"], "mesh": ["C537754"], "omim": ["266910"], "umls": ["C1849438"], "icd-10": ["Q87.8"], "synonyms": ["Renal dysplasia-limb defects syndrome", "Renal dysplasia-mesomelia-radiohumeral fusion syndrome"]} |
## Description
This EEG variant is characterized by almost complete absence of alpha waves except, in some cases, for a few seconds after the eyes are closed and after hyperventilation (summary by Vogel and Motulsky, 1986).
Inheritance
An autosomal dominant mode of inheritance was established for low-voltage EEG ... | ELECTROENCEPHALOGRAM, LOW-VOLTAGE | c1851759 | 538 | omim | https://www.omim.org/entry/130180 | 2019-09-22T16:41:46 | {"omim": ["130180"], "synonyms": ["Alternative titles", "EEG, LOW-VOLTAGE", "ELECTROENCEPHALOGRAPHIC VARIANT PATTERN 1"]} |
A number sign (#) is used with this entry because of evidence that progressive familial intrahepatic cholestasis-3 (PFIC3) is caused by mutation in the gene encoding the class III multidrug resistance (MDR3) P-glycoprotein (ABCB4; 171060).
For a general phenotypic description and a discussion of genetic heterogeneit... | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 | c0268312 | 539 | omim | https://www.omim.org/entry/602347 | 2019-09-22T16:13:50 | {"doid": ["0070223"], "omim": ["602347"], "orphanet": ["172", "79305"], "synonyms": ["Alternative titles", "MDR3 DEFICIENCY", "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE"]} |
Oligoarthritis
SpecialtyRheumatology
Oligoarthritis (from Greek oligos \- 'few') is defined as arthritis affecting two to four joints during the first six months of disease.[1]
## Types[edit]
Two subcategories are recognized:[1][2]
* Persistent oligoarthritis: Affecting not more than 4 joints throug... | Oligoarthritis | c0409702 | 540 | wikipedia | https://en.wikipedia.org/wiki/Oligoarthritis | 2021-01-18T18:54:20 | {"umls": ["C0409702"], "wikidata": ["Q3350500"]} |
Hemoglobin SC disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. Red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. People with hemoglobin SC disease have red blood cells that are differently shaped and... | Hemoglobin SC disease | c0019034 | 541 | gard | https://rarediseases.info.nih.gov/diseases/6584/hemoglobin-sc-disease | 2021-01-18T18:00:07 | {"mesh": ["D006450"], "umls": ["C0019034"], "orphanet": ["251365"], "synonyms": ["Sickle cell - hemoglobin C disease", "HbSC disease", "Sickle cell-hemoglobin C disease syndrome"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spastic paraplegia-18 (SPG18) is caused by homozygous mutation in the ERLIN2 gene (611605) on chromosome 8p11.
Description
Spastic paraplegia-18 is a severe autosomal recessive neurologic disorder characterized by onset in early ... | SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE | c2749936 | 542 | omim | https://www.omim.org/entry/611225 | 2019-09-22T16:03:32 | {"doid": ["0110771"], "mesh": ["C567628"], "omim": ["611225"], "orphanet": ["209951"], "synonyms": ["Alternative titles", "INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES"]} |
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however... | Split hand split foot malformation autosomal recessive | None | 543 | gard | https://rarediseases.info.nih.gov/diseases/4965/split-hand-split-foot-malformation-autosomal-recessive | 2021-01-18T17:57:33 | {"synonyms": []} |
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.
*[v]: View... | Combined immunodeficiency due to MALT1 deficiency | c3809583 | 544 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397964 | 2021-01-23T17:18:43 | {"omim": ["615468"], "icd-10": ["D81.8"]} |
A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, inf... | IgG4-related ophthalmic disease | None | 545 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=449563 | 2021-01-23T18:09:44 | {"icd-10": ["H05.1"]} |
A number sign (#) is used with this entry because of evidence that Bailey-Bloch congential myopathy (MYPBB) is caused by homozygous or compound heterozygous mutation in the STAC3 gene (615521) on chromosome 12q13.
Description
Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an auto... | MYOPATHY, CONGENITAL, BAILEY-BLOCH | c1850625 | 546 | omim | https://www.omim.org/entry/255995 | 2019-09-22T16:24:27 | {"doid": ["0060346"], "mesh": ["C538343"], "omim": ["255995"], "orphanet": ["168572"], "synonyms": ["Alternative titles", "NATIVE AMERICAN MYOPATHY", "MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA"], "genereviews": ["NBK542808"]} |
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fi... | Apert syndrome | c0001193 | 547 | medlineplus | https://medlineplus.gov/genetics/condition/apert-syndrome/ | 2021-01-27T08:24:44 | {"gard": ["5833"], "mesh": ["D000168"], "omim": ["101200"], "synonyms": []} |
Malum perforans
Other namesNeurotrophic ulcer and Trophic ulcer
Diabetic foot ulcer
SpecialtyDermatology
Malum perforans is a long-lasting, usually painless ulcer that penetrates deep into or through the skin, usually on the sole of the foot (in which case it may be called malum perforans pedis). It is oft... | Malum perforans | c4523969 | 548 | wikipedia | https://en.wikipedia.org/wiki/Malum_perforans | 2021-01-18T18:43:09 | {"icd-10": ["L97"], "wikidata": ["Q1764657"]} |
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburg mutation is a rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present... | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | None | 549 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178396 | 2021-01-23T18:14:25 | {} |
Protamine P4 is a minor basic protein of human sperm nuclei. (Human sperm contains 4 protamines whereas most mammalian species contain only 1.) The human protamines fall into 2 families. One family contains only 1 molecular species, HP1, which shows structural relatedness to other mammalian protamines P1. The second ... | SPERM PROTAMINE P4 | c1866801 | 550 | omim | https://www.omim.org/entry/182882 | 2019-09-22T16:34:36 | {"omim": ["182882"]} |
A reproductive system disease is any disease of the reproductive system.
## Contents
* 1 Types
* 1.1 Infections
* 1.2 Congenital abnormalities
* 1.3 Examples of cancers
* 1.4 Examples of functional problems
* 1.5 Endocrine
* 2 References
## Types[edit]
### Infections[edit]
Reproductive tr... | Reproductive system disease | c0178829 | 551 | wikipedia | https://en.wikipedia.org/wiki/Reproductive_system_disease | 2021-01-18T18:46:32 | {"umls": ["C0178829"], "wikidata": ["Q7314317"]} |
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milde... | Osteogenesis imperfecta | c0029434 | 552 | gard | https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta | 2021-01-18T17:58:33 | {"mesh": ["D010013"], "umls": ["C0029434"], "orphanet": ["666"], "synonyms": ["OI", "Brittle bone disease", "Vrolik disease", "Fragilitas ossium", "Lobstein disease", "Osteopsathyrosis", "Porak and Durante disease"]} |
Paraphilia in which a subject derives gratification from giving pain
This article is about the medical condition involving unwilling victims. For consensual sadomasochism, see BDSM.
Sexual sadism disorder
SpecialtyPsychiatry
Sexual sadism disorder is the condition of experiencing sexual arousal in response t... | Sexual sadism disorder | c0036039 | 553 | wikipedia | https://en.wikipedia.org/wiki/Sexual_sadism_disorder | 2021-01-18T19:03:43 | {"mesh": ["D012448"], "wikidata": ["Q5507613"]} |
Trichiasis
SpecialtyOphthalmology
Diagnostic methodSlit lamp
Trichiasis (/trɪkiˈeɪsɪs/ trik-ee-AY-sis, /trɪˈkaɪəsɪs/ tri-KEYE-ə-sis)[1] is a medical term for abnormally positioned eyelashes that grow back toward the eye, touching the cornea or conjunctiva. This can be caused by infection, inflammation, a... | Trichiasis | c0221259 | 554 | wikipedia | https://en.wikipedia.org/wiki/Trichiasis | 2021-01-18T19:07:22 | {"mesh": ["D058457"], "umls": ["C0221259"], "icd-9": ["374.05"], "icd-10": ["H02.0"], "wikidata": ["Q1852755"]} |
A number sign (#) is used with this entry because of evidence that progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) is caused by homozygous or compound heterozygous mutation in the TBCE gene (604934) on chromosome 1q42.
Biallelic mutation in the TBCE gene can also cause hypoparathyroidism-ret... | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY | c4310667 | 555 | omim | https://www.omim.org/entry/617207 | 2019-09-22T15:46:36 | {"omim": ["617207"], "orphanet": ["496756"], "synonyms": []} |
A number sign (#) is used with this entry because familial partial lipodystrophy type 2 (FPLD2) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; 150330) on chromosome 1q21.
Description
Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissu... | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 | c1720860 | 556 | omim | https://www.omim.org/entry/151660 | 2019-09-22T16:38:51 | {"doid": ["0070202"], "mesh": ["D052496"], "omim": ["151660"], "orphanet": ["2348"], "synonyms": ["Alternative titles", "FPL2", "LIPODYSTROPHY, FAMILIAL PARTIAL, DUNNIGAN TYPE", "LIPODYSTROPHY, FAMILIAL, OF LIMBS AND LOWER TRUNK", "LIPODYSTROPHY, REVERSE PARTIAL", "LIPOATROPHIC DIABETES"]} |
Reed’s syndrome
Other namesFamilial leiomyomatosis cutis et uteri
Micrograph showing the characteristic hyalinized papillary cores found in some hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinomas. H&E stain.
Reed’s syndrome is a rare inherited condition characterised... | Hereditary leiomyomatosis and renal cell cancer syndrome | c1708350 | 557 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_leiomyomatosis_and_renal_cell_cancer_syndrome | 2021-01-18T18:39:25 | {"gard": ["10096"], "mesh": ["C535516"], "umls": ["C1708350"], "icd-10": ["D23"], "orphanet": ["523"], "wikidata": ["Q3270312"]} |
Root fracture of the tooth is a dentine cementum fracture involving the pulp.
Traumatic root fracture occurs most often in the middle third of the roots of fully erupted and fully formed teeth. However, root treated teeth are more susceptible to root fracture, as this involves removing root dentine, thereby weakenin... | Root fracture | c0347822 | 558 | wikipedia | https://en.wikipedia.org/wiki/Root_fracture | 2021-01-18T18:50:20 | {"umls": ["C0347822"], "wikidata": ["Q49001435"]} |
Dennie–Marfan syndrome
SpecialtyNeurology
Dennie–Marfan syndrome is a syndrome in which there is association of spastic paraplegia of the lower limbs and mental retardation in children with congenital syphilis.[1] Both sexes are affected, and the onset of the disease can be acute or insidious, with slow progre... | Dennie–Marfan syndrome | None | 559 | wikipedia | https://en.wikipedia.org/wiki/Dennie%E2%80%93Marfan_syndrome | 2021-01-18T19:05:36 | {"icd-10": ["A50.45"], "wikidata": ["Q5258099"]} |
A number sign (#) is used with this entry because pseudohypoaldosteronism type IIC (PHA2C) is caused by heterozygous mutation in the WNK1 gene (605232) on chromosome 12p13.
For a phenotypic description and a discussion of genetic heterogeneity of PHAII, see PHA2A (145260).
Clinical Features
Disse-Nicodeme et a... | PSEUDOHYPOALDOSTERONISM, TYPE IIC | c1840391 | 560 | omim | https://www.omim.org/entry/614492 | 2019-09-22T15:55:05 | {"mesh": ["C564162"], "omim": ["614492"], "orphanet": ["88940", "757"], "genereviews": ["NBK65707"]} |
A number sign (#) is used with this entry because X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism is caused by mutation in the NR0B1 gene (300473).
Description
Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see 240200) pa... | ADRENAL HYPOPLASIA, CONGENITAL | c0220766 | 561 | omim | https://www.omim.org/entry/300200 | 2019-09-22T16:20:40 | {"doid": ["0080156"], "omim": ["300200"], "orphanet": ["95702"], "synonyms": ["Alternative titles", "ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM", "ADDISON DISEASE, X-LINKED", "AHC WITH HHG", "CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA", "AHC WITH ISOLATED GONADOTROPIN DEFICIENCY"], "genereviews": ["N... |
Chromosome 16
Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two.[1] It is the most common trisomy leading to miscarriage and the second most common chromosomal cause of it, closely following X-chromosome monosomy.[2] About 6% of miscarriages have trisomy 16.[3] Thos... | Trisomy 16 | c1519651 | 562 | wikipedia | https://en.wikipedia.org/wiki/Trisomy_16 | 2021-01-18T19:07:37 | {"gard": ["7060"], "mesh": ["C538041"], "orphanet": ["1708"], "synonyms": ["Mosaic trisomy chromosome 16", "Trisomy 16 mosaicism"], "wikidata": ["Q503642"]} |
Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including e... | Severe combined immunodeficiency | c0085110 | 563 | gard | https://rarediseases.info.nih.gov/diseases/7628/severe-combined-immunodeficiency | 2021-01-18T17:57:45 | {"mesh": ["D016511"], "orphanet": ["183660"], "synonyms": ["SCID"]} |
Cancer in adolescents and young adults
SpecialtyOncology
Cancer in adolescents and young adults is cancer which occurs in those between the ages of 15 and 39.[1] This occurs in about 70,000 people a year in the United States—accounting for about 5 percent of cancers. This is about six times the number of cance... | Cancer in adolescents and young adults | None | 564 | wikipedia | https://en.wikipedia.org/wiki/Cancer_in_adolescents_and_young_adults | 2021-01-18T18:55:30 | {"wikidata": ["Q4655219"]} |
## Summary
The purpose of this overview is to increase the awareness of clinicians regarding familial hyperinsulinism (referred to as FHI in this GeneReview) and its genetic causes and management.
The following are the goals of this overview.
### Goal 1.
Describe the clinical characteristics of FHI.
### Goal 2.
... | Familial Hyperinsulinism | c3888018 | 565 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1375/ | 2021-01-18T21:26:20 | {"mesh": ["D044903"], "synonyms": ["Congenital Hyperinsulinism (CHI)", "Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)"]} |
## Clinical Features
Beginning with an infant screened for Sandhoff disease, Alexander et al. (1984) found 5 healthy persons in 3 generations of a Lebanese family with high levels of lysosomal enzymes in the plasma comparable to those found in mucolipidoses II and III (252500, 252600) homozygotes. The same enzymes ... | MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE | c1835134 | 566 | omim | https://www.omim.org/entry/154570 | 2019-09-22T16:38:33 | {"mesh": ["C563601"], "omim": ["154570"], "synonyms": ["Alternative titles", "PHOSPHODIESTER GLYCOSIDE DEFICIENCY"]} |
Some women with hirsutism and amenorrhea have an attenuated form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (201910). This form, as in the classic form of congenital adrenal hyperplasia, is linked to HLA and has an autosomal recessive inheritance. Mild forms of 11-hydroxylase deficiency (20201... | HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL | c1840387 | 567 | omim | https://www.omim.org/entry/145295 | 2019-09-22T16:39:52 | {"mesh": ["C536845"], "omim": ["145295"]} |
Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short no... | Temple syndrome due to maternal uniparental disomy of chromosome 14 | c4015558 | 568 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96184 | 2021-01-23T17:46:38 | {"omim": ["616222"], "icd-10": ["Q99.8"], "synonyms": ["UPD(14)mat"]} |
Seaver Cassidy syndrome
Other namesFacial dysmorphism-shawl scrotum-joint laxity syndrome
Seaver Cassidy syndrome is a very rare disorder characterized by certain facial, genital, and skeletal deformities, as well as an unusual susceptibility to bleeding.[1] Seaver Cassidy syndrome was first described in 1991 ... | Seaver Cassidy syndrome | c2931522 | 569 | wikipedia | https://en.wikipedia.org/wiki/Seaver_Cassidy_syndrome | 2021-01-18T18:31:09 | {"gard": ["4778"], "mesh": ["C537529"], "umls": ["C2931522"], "icd-9": [], "icd-10": [], "orphanet": ["1778"], "wikidata": ["Q7442226"]} |
Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.
*[v]: View this template
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*[e]: Edit th... | Hereditary hypercarotenemia and vitamin A deficiency | c2676023 | 570 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199285 | 2021-01-23T17:57:44 | {"mesh": ["C567296"], "omim": ["115300", "277350"], "icd-10": ["E50.8"]} |
Hurler syndrome
Structure of dermatan sulfate, one of the molecules that accumulates in the lysosomes of Hurler syndrome patients
CausesDeficiency of the alpha-L iduronidase enzyme
Differential diagnosisHurler-Scheie syndrome; Scheie syndrome; Hunter Syndrome; other mucopolysaccharidoses
PrognosisDeath usuall... | Hurler syndrome | c0086795 | 571 | wikipedia | https://en.wikipedia.org/wiki/Hurler_syndrome | 2021-01-18T18:49:39 | {"gard": ["12559"], "mesh": ["D008059"], "orphanet": ["93473"], "wikidata": ["Q25379699"]} |
A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-26 (COXPD26) is caused by compound heterozygous mutation in the TRMT5 gene (611023) on chromosome 14q23.
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see... | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 | c4225290 | 572 | omim | https://www.omim.org/entry/616539 | 2019-09-22T15:48:35 | {"omim": ["616539"], "orphanet": ["477684"], "synonyms": ["COXPD26"]} |
A number sign (#) is used with this entry because of evidence that myofibrillar myopathy-8 (MFM8) is caused by homozygous or compound heterozygous mutation in the PYROXD1 gene (617220) on chromosome 12p12.
Description
Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slo... | MYOPATHY, MYOFIBRILLAR, 8 | c4310645 | 573 | omim | https://www.omim.org/entry/617258 | 2019-09-22T15:46:19 | {"omim": ["617258"]} |
Hypocholesterolemia
Other namesLow cholesterol
Formula structure of cholesterol
CausesStatins, hyperthyroidism, adrenal insufficiency, malabsorption, malnutrition, etc.
Hypocholesterolemia is the presence of abnormally low (hypo-) levels of cholesterol in the blood (-emia). A defect in the body's productio... | Hypocholesterolemia | c0151718 | 574 | wikipedia | https://en.wikipedia.org/wiki/Hypocholesterolemia | 2021-01-18T19:06:54 | {"umls": ["C0151718"], "wikidata": ["Q10295810"]} |
blood film in a patient with hereditary elliptocytosis: approximately 60% to 70% of the RBCs are elliptocytes.
Elliptocytes, also known as ovalocytes, are abnormally shaped red blood cells that appear oval or elongated, from slightly egg-shaped to rod or pencil forms. They have normal central pallor with the hem... | Elliptocyte | None | 575 | wikipedia | https://en.wikipedia.org/wiki/Elliptocyte | 2021-01-18T18:29:03 | {"umls": ["C0221280"], "wikidata": ["Q3358860"]} |
Lesser-known form of OCD involving fewer compulsions
Primarily cognitive obsessive-compulsive disorder (also commonly called "primarily obsessional OCD", purely obsessional OCD, Pure-O, OCD without overt compulsions or with covert compulsions)[1] is a lesser-known form or manifestation of OCD. It is not a diagno... | Primarily obsessional obsessive compulsive disorder | None | 576 | wikipedia | https://en.wikipedia.org/wiki/Primarily_obsessional_obsessive_compulsive_disorder | 2021-01-18T19:01:13 | {"wikidata": ["Q7261173"]} |
## Description
Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported (Faqeih et al., 2008).
Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis synd... | HYPOGLOSSIA WITH SITUS INVERSUS | c2748587 | 577 | omim | https://www.omim.org/entry/612776 | 2019-09-22T16:00:41 | {"mesh": ["C567567"], "omim": ["612776"], "orphanet": ["141152"], "synonyms": []} |
A number sign (#) is used with this entry because high molecular weight kininogen deficiency and total kininogen deficiency result from mutations in the kininogen-1 gene (KNG1; 612358).
Description
High molecular weight kininogen (HMWK) deficiency is an autosomal recessive coagulation defect. It is known by a varie... | HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY | c0272340 | 578 | omim | https://www.omim.org/entry/228960 | 2019-09-22T16:27:51 | {"mesh": ["C537060"], "omim": ["228960"], "orphanet": ["483"], "synonyms": ["Alternative titles", "HMWK DEFICIENCY", "KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT", "FITZGERALD TRAIT"]} |
Descending perineum syndrome (also known as levator plate sagging)[1] refers to a condition where the perineum "balloons" several centimeters below the bony outlet of the pelvis during strain, although this descent may happen without straining.[2] The syndrome was first described in 1966 by Parks et al.[3]
## Conten... | Descending perineum syndrome | c0267602 | 579 | wikipedia | https://en.wikipedia.org/wiki/Descending_perineum_syndrome | 2021-01-18T19:07:33 | {"umls": ["C0267602"], "wikidata": ["Q5263719"]} |
Autosomal dominant (165500), autosomal recessive (258500), X-linked recessive (311050), and mitochondrially-determined forms of hereditary optic atrophy have been described. A negative electroretinogram (ERG) is defined as one in which, at the highest intensity of scotopically presented stimuli, the b-wave amplitude ... | OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS | c1833799 | 580 | omim | https://www.omim.org/entry/165510 | 2019-09-22T16:37:05 | {"mesh": ["C563494"], "omim": ["165510"]} |
Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They ... | Arginine:glycine amidinotransferase deficiency | c2675179 | 581 | medlineplus | https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency/ | 2021-01-27T08:25:44 | {"gard": ["10323"], "mesh": ["C567192"], "omim": ["612718"], "synonyms": []} |
Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous st... | Orbital leiomyoma | c4305000 | 582 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=52994 | 2021-01-23T18:01:32 | {"icd-10": ["D31.6"]} |
A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
*[v]: View this template
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*[e]: Edit this temp... | Variant ABeta2M amyloidosis | c4302669 | 583 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314652 | 2021-01-23T17:07:12 | {"icd-10": ["E85.1"], "synonyms": ["Autosomal dominant beta2-microglobulinic amyloidosis"]} |
A number sign (#) is used with this entry because Bardet-Biedl syndrome-1 (BBS1) is caused by homozygous mutation in the BBS1 gene (209901) on chromosome 11q13.
Digenic inheritance has also been reported; see MOLECULAR GENETICS.
Description
Bardet-Biedl syndrome is an autosomal recessive and genetically heterogene... | BARDET-BIEDL SYNDROME 1 | c0752166 | 584 | omim | https://www.omim.org/entry/209900 | 2019-09-22T16:30:34 | {"doid": ["0110123"], "mesh": ["D020788"], "omim": ["209900"], "orphanet": ["110"], "genereviews": ["NBK1363"]} |
Tonoki et al. (1988) described bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toenails, and excess fingertip arch patterns in a mother and son who were chromosomally and mentally normal. The middle and distal phalanges of digits II through V were abnormally short. The son was noted at birth to have a b... | CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME | c1852454 | 585 | omim | https://www.omim.org/entry/123560 | 2019-09-22T16:42:43 | {"mesh": ["C536219"], "omim": ["123560"], "orphanet": ["1547"]} |
Machupo mammarenavirus
Virus classification
(unranked): Virus
Realm: Riboviria
Kingdom: Orthornavirae
Phylum: Negarnaviricota
Class: Ellioviricetes
Order: Bunyavirales
Family: Arenaviridae
Genus: Mammarenavirus
Species:
Machupo mammarenavirus
Synonyms[1]
Machupo virus
Boliv... | Bolivian hemorrhagic fever | c0282192 | 586 | wikipedia | https://en.wikipedia.org/wiki/Bolivian_hemorrhagic_fever | 2021-01-18T18:53:53 | {"mesh": ["D006478"], "umls": ["C0282192"], "icd-9": ["078.7"], "icd-10": ["A96.1"], "orphanet": ["319229"], "wikidata": ["Q2700304"]} |
Medical condition
This article needs attention from an expert in Medicine. The specific problem is: Medical condition and pills details included. WikiProject Medicine may be able to help recruit an expert. (March 2020)
Menstrual migraine
Other namesCatamenial migraine
Menstrual migraine (also called ... | Menstrual migraine | c0269226 | 587 | wikipedia | https://en.wikipedia.org/wiki/Menstrual_migraine | 2021-01-18T19:03:13 | {"umls": ["C0269226"], "icd-9": ["346.4"], "wikidata": ["Q12859056"]} |
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
## Epidemiology
Prevalence is unknown.
## Clinical description
Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.
## Etiology
The syndrome is caused by ubiquinone defici... | Autosomal recessive ataxia due to ubiquinone deficiency | c2677589 | 588 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139485 | 2021-01-23T17:24:52 | {"gard": ["10294"], "mesh": ["C567436"], "omim": ["612016"], "umls": ["C2677589"], "icd-10": ["G11.1"], "synonyms": ["ARCA2", "Autosomal recessive ataxia due to coenzyme Q10 deficiency", "Autosomal recessive cerebellar ataxia type 2", "Autosomal recessive spinocerebellar ataxia type 9", "SCAR9"]} |
Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnor... | Maple syrup urine disease | c1621920 | 589 | medlineplus | https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease/ | 2021-01-27T08:25:43 | {"gard": ["3228"], "mesh": ["D008375"], "omim": ["248600", "615135"], "synonyms": []} |
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes in... | Hereditary angioedema | c1862892 | 590 | medlineplus | https://medlineplus.gov/genetics/condition/hereditary-angioedema/ | 2021-01-27T08:25:26 | {"gard": ["5979"], "mesh": ["D056829"], "omim": ["106100", "610618"], "synonyms": []} |
Pulp stones (also denticles or endoliths)[1] are nodular, calcified masses appearing in either or both the coronal and root portion of the pulp organ in teeth. Pulp stones are not painful unless they impinge on nerves.
They are classified:[2]
A) On the basis of structure
1) True pulp stones: formed of den... | Pulp stone | c4280546 | 591 | wikipedia | https://en.wikipedia.org/wiki/Pulp_stone | 2021-01-18T18:42:23 | {"mesh": ["D003784"], "umls": ["C4280546", "C1527284", "C4280259", "C0011401"], "wikidata": ["Q7259585"]} |
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (ne... | Intestinal pseudoobstruction neuronal chronic idiopathic X-linked | c2746068 | 592 | gard | https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked | 2021-01-18T17:59:45 | {"mesh": ["C535532"], "omim": ["300048"], "synonyms": ["IPOX", "Congenital idiopathic intestinal pseudoobstruction", "CIIP", "CIIP X-linked", "CIIPX"]} |
Condition wherein the ductus arteriosus fails to close after birth
Patent ductus arteriosus
Other namesPersistent ductus arteriosus
Diagram of a cross-section through a heart with PDA
SpecialtyCardiac surgery, paediatrics
SymptomsShortness of breath, failure to thrive, tachycardia, heart murmur
Complicatio... | Patent ductus arteriosus | c0013274 | 593 | wikipedia | https://en.wikipedia.org/wiki/Patent_ductus_arteriosus | 2021-01-18T18:54:46 | {"gard": ["7342"], "mesh": ["D004374"], "umls": ["C0013274"], "orphanet": ["706"], "wikidata": ["Q2072063"]} |
Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
## Epidemiology
Reported prevalence ranges from 1/215,000 in the USA to 1... | Epidermolysis bullosa simplex | c0079298 | 594 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=304 | 2021-01-23T19:03:00 | {"gard": ["10752"], "mesh": ["D016110"], "umls": ["C0079298"], "icd-10": ["Q81.0"], "synonyms": ["EBS", "EEB"]} |
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this... | 7q31 microdeletion syndrome | None | 595 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251061 | 2021-01-23T19:06:37 | {"icd-10": ["Q93.5"], "synonyms": ["Del(7)(q31)", "Monosomy 7q31"]} |
Hall et al. (1974) reported 2 brothers with mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose. One had had a 'cervical spinal cyst' removed at age 1 year and the second had occipital cranium bifidum occulatum. The parents were unrel... | ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION | c0796125 | 596 | omim | https://www.omim.org/entry/200130 | 2019-09-22T16:31:42 | {"mesh": ["C563111"], "omim": ["200130"], "orphanet": ["2985"], "synonyms": ["Alternative titles", "PSEUDOPROGERIA SYNDROME"]} |
Chorea gravidarum
SpecialtyNeurology, obstetrics
Chorea gravidarum is a rare[1] type of chorea which presents with involuntary abnormal movement, characterized by abrupt, brief, nonrhythmic, nonrepetitive movement of any limb, often associated with nonpatterned facial grimaces. It is a complication of pregnanc... | Chorea gravidarum | c0264746 | 597 | wikipedia | https://en.wikipedia.org/wiki/Chorea_gravidarum | 2021-01-18T18:32:22 | {"mesh": ["D020150"], "umls": ["C0264746"], "icd-10": ["O99.3", "G25.5"], "wikidata": ["Q5105007"]} |
## Summary
### Clinical characteristics.
SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the... | SCN1A Seizure Disorders | None | 598 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1318/ | 2021-01-18T20:59:44 | {"synonyms": []} |
Ranula
SpecialtyOral and maxillofacial surgery
A ranula is a mucus extravasation cyst involving a sublingual gland and is a type of mucocele found on the floor of the mouth. Ranulae present as a swelling of connective tissue consisting of collected mucin from a ruptured salivary gland caused by local trauma. I... | Ranula | c2242813 | 599 | wikipedia | https://en.wikipedia.org/wiki/Ranula | 2021-01-18T18:32:35 | {"mesh": ["D011900"], "umls": ["C0026686", "C2242813"], "wikidata": ["Q1756640"]} |
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