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Tumor budding is loosely defined by the presence of individual cells and small clusters of tumor cells at the invasive front of carcinomas. It has been postulated to represent an epithelial–mesenchymal transition (EMT).
Tumor budding is a well-established independent adverse prognostic factor in colorectal carci... | Tumor budding | c4049272 | 5,600 | wikipedia | https://en.wikipedia.org/wiki/Tumor_budding | 2021-01-18T18:32:11 | {"umls": ["C4049272"], "wikidata": ["Q16948689"]} |
Perianal hematoma
Other namesExternal hemorroidal thrombosis, perianal thrombosis, anal vein thrombosis
SpecialtyGeneral surgery
Perianal hematoma is a hematoma located in, or on the border of the anus.[1][2] It is sometimes inappropriately referred to as an external hemorrhoid.[2]
## Contents
* 1 Si... | Perianal hematoma | c0155784 | 5,601 | wikipedia | https://en.wikipedia.org/wiki/Perianal_hematoma | 2021-01-18T19:10:25 | {"umls": ["C0155784"], "wikidata": ["Q1324103"]} |
Dravet syndrome is the most severe of a group of conditions known as SCN1A-related seizure disorders. Symptoms include seizures which first occur in infancy that are often triggered by high temperatures (febrile seizures). In childhood, many types of seizures may occur and they may increase in frequency. Seizures may... | Dravet syndrome | c0751122 | 5,602 | gard | https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome | 2021-01-18T18:00:49 | {"mesh": ["D004831"], "omim": ["607208"], "umls": ["C0751122"], "orphanet": ["33069"], "synonyms": ["Severe Myoclonic Epilepsy of Infancy", "SMEI", "Myoclonic epilepsy, severe, of infancy", "SME"]} |
Compulsive sexual behaviour driven by use of pornography
Addiction and dependence glossary[1][2][3][4]
* addiction – a biopsychosocial disorder characterized by persistent use of drugs (including alcohol) despite substantial harm and adverse consequences
* addictive behavior – a behavior that is both reward... | Pornography addiction | None | 5,603 | wikipedia | https://en.wikipedia.org/wiki/Pornography_addiction | 2021-01-18T18:29:57 | {"wikidata": ["Q1319971"]} |
Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.
## Epidemiology
It has an estimated prevalence of 1/100,000 in the Northern European population (higher in certain populations) and ... | Krabbe disease | c0023521 | 5,604 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=487 | 2021-01-23T19:04:24 | {"gard": ["6844"], "mesh": ["D007965"], "omim": ["245200", "611722"], "umls": ["C0023521"], "icd-10": ["E75.2"], "synonyms": ["GALC deficiency", "Galactocerebrosidase deficiency", "Galactosylceramidase deficiency", "Globoid cell leukodystrophy"]} |
A number sign (#) is used with this entry because of evidence that vesicoureteral reflux-3 (VUR3) is caused by heterozygous mutation in the SOX17 gene (610928) on chromosome 8q11.
For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see 193000.
Clinical Features
... | VESICOURETERAL REFLUX 3 | c3150927 | 5,605 | omim | https://www.omim.org/entry/613674 | 2019-09-22T15:57:58 | {"doid": ["9620"], "omim": ["613674"], "orphanet": ["289365"], "synonyms": ["Familial VUR"]} |
A number sign (#) is used with this entry because the Lom type of hereditary motor and sensory neuropathy, also called Charcot-Marie-Tooth disease type 4D, is caused by homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1; 605262) on chromosome 8q24.
Description
Charcot-Marie-Tooth disease type 4D (C... | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D | c1832334 | 5,606 | omim | https://www.omim.org/entry/601455 | 2019-09-22T16:14:44 | {"doid": ["0110186"], "mesh": ["C535716"], "omim": ["601455"], "orphanet": ["99950"], "synonyms": ["Alternative titles", "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE", "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4D", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4D", "HMSN4D"]} |
Extraskeletal myxoid chondrosarcoma (EMC) is a rare low-grade malignant mesenchymal neoplasm of the soft tissues, that differs from other sarcomas by unique histology and characteristic chromosomal translocation. There is an uncertain differentiation (there is no evidence yet showing that EMC exhibits the feature of ... | Extraskeletal myxoid chondrosarcoma | c1275278 | 5,607 | wikipedia | https://en.wikipedia.org/wiki/Extraskeletal_myxoid_chondrosarcoma | 2021-01-18T18:42:59 | {"mesh": ["C563195"], "wikidata": ["Q61478087"]} |
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type In (CDG In, CDG1N) is caused by homozygous or compound heterozygous mutation in the RFT1 gene (611908) on chromosome 3p21.
Description
Congenital disorders of glycosylation (CDGs) are a genetically heterogen... | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In | c2677590 | 5,608 | omim | https://www.omim.org/entry/612015 | 2019-09-22T16:02:29 | {"doid": ["0080566"], "mesh": ["C567437"], "omim": ["612015"], "orphanet": ["244310"], "synonyms": ["Alternative titles", "CDG In"], "genereviews": ["NBK1332"]} |
Baylisascaris roundworms are intestinal parasites found in many different animals. Baylisascaris infection in humans is uncommon but can be severe. While Baylisascaris can infect different types of animals, Baylisascaris procyonis, carried by raccoons, is thought to pose the greatest risk to humans because raccoons o... | Baylisascaris infection | None | 5,609 | gard | https://rarediseases.info.nih.gov/diseases/12654/baylisascaris-infection | 2021-01-18T18:01:51 | {"synonyms": []} |
Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
In this disorder, the bones of the lower spine (vertebrae) are frequently misshapen or missing, a... | Caudal regression syndrome | c1838569 | 5,610 | medlineplus | https://medlineplus.gov/genetics/condition/caudal-regression-syndrome/ | 2021-01-27T08:25:09 | {"gard": ["6007"], "mesh": ["C537221"], "omim": ["600145"], "synonyms": []} |
A number sign (#) is used with this entry because congenital generalized lipodystrophy type 2 (CGL2) is caused by homozygous or compound heterozygous mutation in the gene encoding seipin (BSCL2; 606158) on chromosome 11q12.
Biallelic mutation in the BSCL2 gene can also cause progressive encephalopathy with or withou... | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | c0221032 | 5,611 | omim | https://www.omim.org/entry/269700 | 2019-09-22T16:22:26 | {"doid": ["0111136"], "mesh": ["D052497"], "omim": ["269700"], "orphanet": ["528"], "synonyms": ["Alternative titles", "BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2", "SEIP SYNDROME", "BERARDINELLI SYNDROME", "LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM", "LIPOATROPHIC DIABETES, CONGENITAL", "LIPODYSTROPHY, ... |
Abortion in Tennessee is legal.
The number of abortion clinics in Tennessee has decreased over the years, with 128 in 1982, 33 in 1992 and seven in 2014. There were 12,373 legal abortions in 2014, and 11,411 in 2015.
## Contents
* 1 Terminology
* 2 Context
* 3 History
* 3.1 Legislative history
* 3.2 ... | Abortion in Tennessee | None | 5,612 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Tennessee | 2021-01-18T18:31:00 | {"wikidata": ["Q64876955"]} |
A rare temporomandibular joint anomaly characterized by progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction, and dental malocclusion.
*[v]: View this template
*[t]: ... | Primary condylar hyperplasia | None | 5,613 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477781 | 2021-01-23T17:13:01 | {"synonyms": ["Type 1 condylar hyperplasia"]} |
## Summary
### Clinical characteristics.
G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following:
* Isolated severe congenital neutropenia (nonsyndromic)
* Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular ... | G6PC3 Deficiency | None | 5,614 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK285321/ | 2021-01-18T21:24:57 | {"synonyms": ["Ubiquitous Glucose-6-Phosphatase Deficiency"]} |
A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplas... | Acute myeloid leukemia with t(6;9)(p23;q34) | None | 5,615 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402014 | 2021-01-23T18:32:49 | {"icd-10": ["C92.0"], "synonyms": ["AML with t(6;9)(p23;q34)"]} |
Long face syndrome, also referred to as skeletal open bite,[1] is a relatively common condition characterised by excessive vertical facial development.[2] Its causes may be either genetic or environmental. Long face syndrome is "a common dentofacial abnormality."[3]:369[4] Its diagnosis, symptomology and treatments a... | Long face syndrome | c0399520 | 5,616 | wikipedia | https://en.wikipedia.org/wiki/Long_face_syndrome | 2021-01-18T18:34:27 | {"umls": ["C0399520"], "wikidata": ["Q17120920"]} |
An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal ... | X-linked intellectual disability, Cabezas type | c1845861 | 5,617 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85293 | 2021-01-23T19:01:22 | {"mesh": ["C567069"], "omim": ["300354"], "umls": ["C1845861"], "icd-10": ["Q87.8"], "synonyms": ["Cabezas syndrome"]} |
## Summary
### Clinical characteristics.
The 1q21.1 recurrent microdeletion itself does not appear to lead to a clinically recognizable syndrome as some persons with the deletion have no obvious clinical findings and others have variable findings that most commonly include microcephaly (50%), mild intellectual disa... | 1q21.1 Recurrent Microdeletion | None | 5,618 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK52787/ | 2021-01-18T20:46:33 | {"synonyms": []} |
## Description
Progesterone prepares the endometrium for blastocyst implantation and allows maintenance of pregnancy. The major sources of progesterone are the corpus luteum during the second half of the menstrual cycle and at the beginning of pregnancy, and the placenta. The main hormones responsible for stimulati... | PROGESTERONE RESISTANCE | c1849699 | 5,619 | omim | https://www.omim.org/entry/264080 | 2019-09-22T16:23:16 | {"mesh": ["C564871"], "omim": ["264080"], "synonyms": ["Alternative titles", "PSEUDOCORPUS LUTEUM INSUFFICIENCY"]} |
A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, b... | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | None | 5,620 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=506353 | 2021-01-23T17:02:27 | {"omim": ["618768"], "synonyms": ["Autosomal recessive complex SPG due to Kennedy pathway dysfunction"]} |
Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry, scaly patches. It is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the lower arms and legs). DSAP usually starts during ... | Disseminated superficial actinic porokeratosis | c0265970 | 5,621 | gard | https://rarediseases.info.nih.gov/diseases/10983/disseminated-superficial-actinic-porokeratosis | 2021-01-18T18:00:51 | {"mesh": ["D017499"], "orphanet": ["79152"], "synonyms": ["DSAP"]} |
Lipschütz ulcer
One of the first published cases of Lipschütz ulcer[1]
Lipschütz ulcer, ulcus vulvae acutum or reactive non-sexually related acute genital ulcers (English: acute ulceration of the vulva) is a rare disease characterized by painful genital ulcers, fever, and lymphadenopathy, occurring most common... | Lipschütz ulcer | c0276086 | 5,622 | wikipedia | https://en.wikipedia.org/wiki/Lipsch%C3%BCtz_ulcer | 2021-01-18T18:28:09 | {"icd-9": ["616.50"], "wikidata": ["Q6557016"]} |
## Description
Hydroa vacciniforme (HV) is a rare photodermatosis characterized by acute vesiculation and crusting and scarring following sun exposure (Gupta et al., 1999).
Clinical Features
Hydroa vacciniforme is usually sporadic, with onset in childhood The eruption tends to be worse during the spring and s... | HYDROA VACCINIFORME, FAMILIAL | c1863533 | 5,623 | omim | https://www.omim.org/entry/603794 | 2019-09-22T16:12:40 | {"mesh": ["C536077"], "omim": ["603794"]} |
The association of mesomelic shortness of the upper limbs (mainly due to hypoplastic ulna), clubfeet, and anonychia congenita was described by Kohn et al. (1989, 1995) in 2 males born of an inbred Arab couple. Lower limbs showed limitation of movement at the knees, severe varus deformity, and absence of all toenails.... | ULNAR HYPOPLASIA WITH MENTAL RETARDATION | c1848650 | 5,624 | omim | https://www.omim.org/entry/276821 | 2019-09-22T16:21:26 | {"mesh": ["C564757"], "omim": ["276821"], "orphanet": ["2249"], "synonyms": ["Alternative titles", "MESOMELIA OF THE UPPER LIMBS, ANONYCHIA CONGENITA, CLUBFEET, AND MENTAL RETARDATION"]} |
A number sign (#) is used with this entry because of evidence that pontocerebellar hypoplasia type 2E (PCH2E) is caused by compound heterozygous mutation in the VPS53 gene (615850) on chromosome 17p13.
Description
Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized ... | PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | c4014488 | 5,625 | omim | https://www.omim.org/entry/615851 | 2019-09-22T15:50:49 | {"doid": ["0060271"], "omim": ["615851"], "orphanet": ["247198"], "synonyms": ["PCCA"]} |
A sialocele is a localized, subcutaneous cavity containing saliva.[1][2] It is caused by trauma (e.g. violence, accident or surgery) or infection.[1] They most commonly develop about 8–14 days after injury.[3]
They are a relatively common complication following surgery to the salivary glands,[4] commonly parotidecto... | Sialocele | c0026686 | 5,626 | wikipedia | https://en.wikipedia.org/wiki/Sialocele | 2021-01-18T18:47:46 | {"umls": ["C0026686"], "wikidata": ["Q17000199"]} |
For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 (127700).
Mapping
Using genomewide parametric linkage analysis in a large Dutch family recruited for a linkage study of dyslexia through an advertisement campaign in newspapers and magazines, de ... | DYSLEXIA, SUSCEPTIBILITY TO, 9 | c1845296 | 5,627 | omim | https://www.omim.org/entry/300509 | 2019-09-22T16:20:09 | {"omim": ["300509"]} |
A number sign (#) is used with this entry because of evidence that type II primary hyperoxaluria (HP2) is caused by homozygous or compound heterozygous mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; 604296) on chromosome 9p13.
For a discussion of genetic heterogeneity of primary hyperoxa... | HYPEROXALURIA, PRIMARY, TYPE II | c0268165 | 5,628 | omim | https://www.omim.org/entry/260000 | 2019-09-22T16:23:48 | {"doid": ["2977"], "mesh": ["C536415"], "omim": ["260000"], "orphanet": ["93599", "416"], "synonyms": ["Alternative titles", "OXALOSIS II", "GLYCERIC ACIDURIA", "GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY", "D-GLYCERATE DEHYDROGENASE DEFICIENCY"], "genereviews": ["NBK2692"]} |
MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and... | MiT family translocation renal cell carcinoma | c3275446 | 5,629 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319308 | 2021-01-23T18:50:15 | {"omim": ["300854"], "icd-10": ["C64"], "synonyms": ["Carcinoma associated with MITF/TFE translocation", "Translocation renal cell carcinoma"]} |
A number sign (#) is used with this entry because of evidence that paragangliomas-6 (PGL6) is caused by heterozygous germline mutation in the SLC25A11 gene (604165) on chromosome 17p13.
Description
Paragangliomas-6 (PGL6) is an adult-onset tumor predisposition syndrome in which affected individuals develop neuroend... | PARAGANGLIOMAS 6 | None | 5,630 | omim | https://www.omim.org/entry/618464 | 2019-09-22T15:41:46 | {"omim": ["618464"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant familial hypercholesterolemia-2 (FCHL2) is caused by heterozygous mutation in the APOB gene (107730) on chromosome 2p24.
Clinical Features
Higgins et al. (1975) described father and daughter with hypercholesterolemia which appeare... | HYPERCHOLESTEROLEMIA, FAMILIAL, 2 | c1704417 | 5,631 | omim | https://www.omim.org/entry/144010 | 2019-09-22T16:40:01 | {"mesh": ["D006938"], "omim": ["144010"], "icd-10": ["E78.2"], "synonyms": ["Alternative titles", "HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B", "APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE", "HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B", "APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE"]... |
A number sign (#) is used with this entry because the disorder is caused by mutation in the COX4I2 gene (607976).
Clinical Features
Shteyer et al. (2009) reported 3 brothers from a consanguineous Arab Muslim family with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. They pr... | EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS | c2675184 | 5,632 | omim | https://www.omim.org/entry/612714 | 2019-09-22T16:00:43 | {"mesh": ["C567195"], "omim": ["612714"], "orphanet": ["199337"]} |
An accessory toenail on a right foot
The accessory nail of the fifth toe is a physical trait of the small toe, where a minuscule "sixth toenail" is present in the outer corner of the nail situated on the smallest toe.
## Contents
* 1 Trait
* 2 Removal
* 3 Legend
* 4 See also
* 5 References
## Trait[edit... | Accessory nail of the fifth toe | c1852023 | 5,633 | wikipedia | https://en.wikipedia.org/wiki/Accessory_nail_of_the_fifth_toe | 2021-01-18T18:49:34 | {"gard": ["9672"], "mesh": ["C565090"], "umls": ["C1852023"], "wikidata": ["Q4672539"]} |
Kennedy disease is a gradually progressive, neuromuscular disorder characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60. Early symptoms may include tremor, muscle cram... | Kennedy disease | c0393547 | 5,634 | gard | https://rarediseases.info.nih.gov/diseases/6818/kennedy-disease | 2021-01-18T17:59:37 | {"mesh": ["D009134"], "omim": ["313200"], "orphanet": ["481"], "synonyms": ["Spinal and bulbar muscular atrophy", "X-linked spinal and bulbar muscular atrophy", "Bulbospinal muscular atrophy", "X-linked bulbospinal amyotrophy", "Spinobulbar muscular atrophy", "SBMA"]} |
The arrow indicates a fusion beat on this ECG.
A fusion beat occurs when electrical impulses from different sources act upon the same region of the heart at the same time.[1] If it acts upon the ventricular chambers it is called a ventricular fusion beat, whereas colliding currents in the atrial chambers produce atr... | Fusion beat | c0232213 | 5,635 | wikipedia | https://en.wikipedia.org/wiki/Fusion_beat | 2021-01-18T18:28:42 | {"umls": ["C0232213"], "wikidata": ["Q5510271"]} |
Glycine encephalopathy is an inherited metabolic disease characterized by abnormally high levels of an amino acid called glycine. Glycine is a chemical messenger that transmits signals in the brain. According to the symptoms the disease onset, glycine encephalopathy may be divided in:
* Classical neonatal form (... | Glycine encephalopathy | c0751748 | 5,636 | gard | https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy | 2021-01-18T18:00:17 | {"mesh": ["D020158"], "omim": ["605899"], "umls": ["C0751748"], "orphanet": ["407"], "synonyms": ["Hyperglycinemia nonketotic", "Nonketotic hyperglycinemia", "Glycine synthase deficiency", "Non-ketotic hyperglycinemia"]} |
Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vess... | Pulmonary veno-occlusive disease | c3887658 | 5,637 | medlineplus | https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/ | 2021-01-27T08:25:20 | {"gard": ["10153"], "omim": ["265450", "234810"], "synonyms": []} |
Autoimmune polyendocrine syndrome
Other namesAutoimmune polyglandular syndromes (APSs)
The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional)
SpecialtyEndocrinology
TypesAPS type1,
APS type 2,
IPEX syndrome
CausesFOXP3 gene is inv... | Autoimmune polyendocrine syndrome | c0085409 | 5,638 | wikipedia | https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome | 2021-01-18T18:53:20 | {"mesh": ["D016884"], "umls": ["C0085409"], "orphanet": ["282196"], "wikidata": ["Q675311"]} |
Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involu... | Infantile-onset spinocerebellar ataxia | c1849096 | 5,639 | medlineplus | https://medlineplus.gov/genetics/condition/infantile-onset-spinocerebellar-ataxia/ | 2021-01-27T08:25:07 | {"gard": ["4062"], "mesh": ["C535523"], "omim": ["271245"], "synonyms": []} |
Arteritic anterior ischemic optic neuropathy
SpecialtyOphthalmology
Arteritic anterior ischemic optic neuropathy (AAION or arteritic AION) is the cause of vision loss that occurs in temporal arteritis (aka giant-cell arteritis). Temporal arteritis is an inflammatory disease of medium-sized blood vessels that h... | Arteritic anterior ischemic optic neuropathy | c2242711 | 5,640 | wikipedia | https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy | 2021-01-18T18:28:26 | {"wikidata": ["Q4797551"]} |
Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females. Signs and symptoms may include distinct facial findings, short stature, microcephaly, kyphoscoliosis, ... | Coffin-Lowry syndrome | c0265252 | 5,641 | gard | https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome | 2021-01-18T18:01:14 | {"mesh": ["D038921"], "omim": ["303600"], "orphanet": ["192"], "synonyms": ["Mental retardation with osteocartilaginous abnormalities", "CLS", "Coffin syndrome"]} |
A number sign (#) is used with this entry because of evidence that amyotrophic lateral sclerosis-12 (ALS12) is caused by homozygous or heterozygous mutation in the optineurin gene (OPTN; 602432) on chromosome 10p13.
Primary open angle glaucoma-1E (POAG; see 137760) is an allelic disorder caused by distinct missense ... | AMYOTROPHIC LATERAL SCLEROSIS 12 | c0002736 | 5,642 | omim | https://www.omim.org/entry/613435 | 2019-09-22T15:58:49 | {"doid": ["0060203"], "mesh": ["D000690"], "omim": ["613435"], "orphanet": ["803"], "genereviews": ["NBK1450"]} |
A number sign (#) is used with this entry because hereditary folate malabsorption is caused by homozygous or compound heterozygous mutation in the SLC46A1 gene (611672) on chromosome 17q11.
Description
Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate d... | FOLATE MALABSORPTION, HEREDITARY | c0342705 | 5,643 | omim | https://www.omim.org/entry/229050 | 2019-09-22T16:27:48 | {"mesh": ["C562799"], "omim": ["229050"], "orphanet": ["90045"], "genereviews": ["NBK1673"]} |
A number sign (#) is used with this entry because of evidence that Reynolds syndrome is caused by heterozygous mutation in the LBR gene (600024) on chromosome 1q42. One such patient has been reported.
Clinical Features
Reynolds et al. (1971) reported 6 unrelated women, ranging in age from 38 to 51 years, with a con... | REYNOLDS SYNDROME | c0748397 | 5,644 | omim | https://www.omim.org/entry/613471 | 2019-09-22T15:58:34 | {"omim": ["613471"], "orphanet": ["779"], "synonyms": ["Alternative titles", "PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA"]} |
Disease of the kidney
"Berger's disease" redirects here. It is not to be confused with Buerger's disease.
Berger's disease (IgA nephropathy)
Other namesIgA nephritis
Immunoglobulin A dimer
SpecialtyNephrology
Rheumatology
Oncology
IgA nephropathy (IgAN), also known as Berger's disease (/bɛərˈʒeɪ/) (a... | IgA nephropathy | c0017661 | 5,645 | wikipedia | https://en.wikipedia.org/wiki/IgA_nephropathy | 2021-01-18T18:31:18 | {"gard": ["863"], "mesh": ["D005922"], "umls": ["C0017661"], "wikidata": ["Q1146454"]} |
Goldenhar syndrome
Other namesOculo-auriculo-vertebral spectrum (OAVS), oculo-auriculo-vertebral dysplasia (OAV), expanded spectrum of hemifacial microsomia, facioauriculovertebral dysplasia
Female with Goldenhar syndrome, showing preauricular skin tags
SpecialtyMedical genetics
Goldenhar syndrome is a... | Goldenhar syndrome | c0265240 | 5,646 | wikipedia | https://en.wikipedia.org/wiki/Goldenhar_syndrome | 2021-01-18T19:02:01 | {"gard": ["6540"], "mesh": ["D006053"], "umls": ["C0432130"], "orphanet": ["374"], "wikidata": ["Q769988"]} |
Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.
## Epidemiology
Prevalence is unknown but dysfibrinogenemia is more frequent than afibrinogenemia which has a prevalence of 1/1,000,000.
## Clinical description
Most... | Familial dysfibrinogenemia | c0272350 | 5,647 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98881 | 2021-01-23T18:55:25 | {"gard": ["2004"], "mesh": ["C562727"], "omim": ["616004"], "umls": ["C0272350"], "icd-10": ["D68.2"]} |
A number sign (#) is used with this entry because the Guion-Almeida type of mandibulofacial dysostosis (MFDGA) is caused by heterozygous mutation in the EFTUD2 gene (603892) on chromosome 17q21.
Description
Mandibulofacial dysostosis with microcephaly is a rare syndrome comprising progressive microcephaly, midface ... | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | c1864652 | 5,648 | omim | https://www.omim.org/entry/610536 | 2019-09-22T16:04:23 | {"doid": ["0080196"], "mesh": ["C537405"], "omim": ["610536"], "orphanet": ["79113"], "synonyms": ["Alternative titles", "MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY", "GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY, AND CLEFT PALATE"], "genereviews": ["NBK214367"]} |
For the glacial landform sometimes spelled eschar, see Esker.
Look up eschar in Wiktionary, the free dictionary.
An eschar (/ˈɛskɑːr/; Greek: eschara) is a slough[1] or piece of dead tissue that is cast off from the surface of the skin, particularly after a burn injury, but also seen in gangrene, ulcer, funga... | Eschar | c0521172 | 5,649 | wikipedia | https://en.wikipedia.org/wiki/Eschar | 2021-01-18T18:30:58 | {"wikidata": ["Q2478746"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-46 (MRD46) is caused by heterozygous mutation in the KCNQ5 gene (607357) on chromosome 6q14.
Clinical Features
Lehman et al. (2017) reported 2 unrelated boys with delayed psychomotor development, mild to moderat... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 | c4539851 | 5,650 | omim | https://www.omim.org/entry/617601 | 2019-09-22T15:45:32 | {"omim": ["617601"]} |
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Find sources: "Isovaleric acidemia" – news · newspapers · books · scholar · JSTOR (August 2008) (Learn how and when to remove this tem... | Isovaleric acidemia | c0268575 | 5,651 | wikipedia | https://en.wikipedia.org/wiki/Isovaleric_acidemia | 2021-01-18T18:50:01 | {"gard": ["465"], "mesh": ["C538167"], "umls": ["C0268575"], "icd-9": ["270.3"], "orphanet": ["33"], "wikidata": ["Q3278042"]} |
Duverney fracture
SpecialtyOrthopedic
Duverney fractures are isolated pelvic fractures involving only the iliac wing. They are caused by direct trauma to the iliac wing, and are generally stable fractures as they do not disrupt the weight bearing pelvic ring.[1]
The fracture is named after the French surg... | Duverney fracture | c0272578 | 5,652 | wikipedia | https://en.wikipedia.org/wiki/Duverney_fracture | 2021-01-18T18:58:53 | {"umls": ["C0272578"], "wikidata": ["Q5317627"]} |
Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; th... | Familial Mediterranean fever | c0031069 | 5,653 | medlineplus | https://medlineplus.gov/genetics/condition/familial-mediterranean-fever/ | 2021-01-27T08:25:42 | {"gard": ["6421"], "mesh": ["D010505"], "omim": ["249100", "134610"], "synonyms": []} |
Reticular dysgenesis
Other namesAK2 deficiency, Congenital aleukocytosis, De Vaal disease, Generalized hematopoietic hypoplasia, SCID with leukopenia
Reticular dysgenesis is inherited in an autosomal recessive manner
SpecialtyHematology
Reticular dysgenesis (RD) is a rare, inherited autosomal recessive dis... | Reticular dysgenesis | c1282908 | 5,654 | wikipedia | https://en.wikipedia.org/wiki/Reticular_dysgenesis | 2021-01-18T19:03:27 | {"gard": ["8625"], "mesh": ["C538361"], "umls": ["C1282908"], "icd-10": ["D81.0"], "orphanet": ["33355"], "wikidata": ["Q7316718"]} |
A number sign (#) is used with this entry because adolescent nephropathic cystinosis is caused by mutation in the gene encoding cystinosin (606272), which maps to chromosome 17p13. See also 219800 for general information about nephropathic cystinosis and the infantile type of the disorder.
Clinical Features
Ado... | CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | c0268626 | 5,655 | omim | https://www.omim.org/entry/219900 | 2019-09-22T16:29:00 | {"doid": ["1064"], "mesh": ["C562683"], "omim": ["219900"], "orphanet": ["411634", "213"], "synonyms": ["Alternative titles", "CYSTINOSIS, INTERMEDIATE"], "genereviews": ["NBK1400"]} |
A number sign (#) is used with this entry because FG syndrome-2 (FGS2) is caused by mutation in the gene encoding filamin A (FLNA; 300017) on chromosome Xq28.
Description
Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech developm... | FG SYNDROME 2 | c1845902 | 5,656 | omim | https://www.omim.org/entry/300321 | 2019-09-22T16:20:33 | {"mesh": ["C537923"], "omim": ["300321"]} |
Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousn... | Benign childhood occipital epilepsy, Panayiotopoulos type | c0393676 | 5,657 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98815 | 2021-01-23T19:06:31 | {"mesh": ["D004828"], "icd-10": ["G40.0"], "synonyms": ["Early-onset benign childhood occipital epilepsy", "Panayiotopoulos syndrome"]} |
OSLAM syndrome
Other namesOsteosarcoma-limb anomalies-erythroid macrocytosis syndrome
OSLAM syndrome is inherited in an autosomal dominant manner
OSLAM syndrome is a rare autosomal dominant hereditary disorder. Its name is an initialism of "osteosarcoma, limb anomalies, and erythroid macrocytosis with megalo... | OSLAM syndrome | c1833792 | 5,658 | wikipedia | https://en.wikipedia.org/wiki/OSLAM_syndrome | 2021-01-18T18:58:18 | {"gard": ["4129"], "mesh": ["C537138"], "umls": ["C1833792"], "orphanet": ["2760"], "wikidata": ["Q7073028"]} |
A number sign (#) is used with this entry because this form of hypomaturation amelogenesis imperfecta (AI) is caused by homozygous mutation in the WDR72 gene (613214).
For a phenotypic description and a discussion of genetic heterogeneity of the hypomaturation type of AI, see AI2A1 (204700).
Clinical Features
... | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 | c0399372 | 5,659 | omim | https://www.omim.org/entry/613211 | 2019-09-22T15:59:20 | {"doid": ["0110061"], "mesh": ["C536606"], "omim": ["613211"], "orphanet": ["100033", "88661"]} |
Childhood apraxia of speech occurs in children and is present from birth. It appears to be more common in boys than girls. Children with this condition have difficulty planning and producing the precise, refined, and specific movements of the tongue, lips, jaw, and palate that are necessary for intelligible speech. I... | Childhood apraxia of speech | c0750927 | 5,660 | gard | https://rarediseases.info.nih.gov/diseases/12889/childhood-apraxia-of-speech | 2021-01-18T18:01:29 | {"mesh": ["D001072"], "omim": ["602081"], "orphanet": ["209908"], "synonyms": ["Developmental apraxia of speech", "Speech and language disorder with orofacial dyspraxia", "CAS", "Speech-language disorder type 1", "Speech-language disorder-1", "Developmental verbal dyspraxia", "DAS", "Articulatory apraxia", "Development... |
A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy a... | Neuhauser-Eichner-Opitz syndrome | c1851708 | 5,661 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2672 | 2021-01-23T18:14:02 | {"gard": ["3949"], "mesh": ["C536407"], "omim": ["130950"], "umls": ["C1851708"], "synonyms": ["Recurrent encephalophathy of childhood"]} |
Palatal myoclonus
Play media
Palatal myoclonus
Palatal myoclonus is a rapid spasm of the palatal (roof of the mouth) muscles, which results in clicking or popping in the ear. The movements of the palate vary in rate between 40 and 200 beats per minute. Chronic clonus is often due to lesions of the cent... | Palatal myoclonus | c0030214 | 5,662 | wikipedia | https://en.wikipedia.org/wiki/Palatal_myoclonus | 2021-01-18T19:01:41 | {"mesh": ["D009207"], "umls": ["C0030214"], "icd-9": ["333.2"], "wikidata": ["Q7126771"]} |
"Fear of Flying" redirects here. For other uses, see Fear of flying (disambiguation).
Human disease
A Boeing 747 aeroplane
Fear of flying is a fear of being on an aeroplane, or other flying vehicle, such as a helicopter, while in flight. It is also referred to as flying anxiety, flying phobia, flight phobia, a... | Fear of flying | c0344318 | 5,663 | wikipedia | https://en.wikipedia.org/wiki/Fear_of_flying | 2021-01-18T18:53:35 | {"umls": ["C0344318"], "wikidata": ["Q1127417"]} |
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
## Epidemiology
To date, 41 cases of MVA have been described in the literature.
## Clinical description
The most common ... | Mosaic variegated aneuploidy syndrome | c1850343 | 5,664 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1052 | 2021-01-23T17:08:12 | {"gard": ["3007"], "mesh": ["C536987"], "omim": ["257300", "614114", "617598"], "umls": ["C1850343", "C2931286"], "icd-10": ["Q99.8"], "synonyms": ["Warburton-Anyane-Yeboa syndrome"]} |
Occurs when there is a sudden lack of blood flow to a limb
Acute limb ischaemia
Other namesAcute limb ischemia
Acute embolism to the right femoral artery resulting in ischemia
SymptomsCold, painful, pulseless limb that cannot move
CausesEmbolism, thrombosis
TreatmentThrombectomy, embolectomy, thrombolysis ... | Acute limb ischaemia | c4049535 | 5,665 | wikipedia | https://en.wikipedia.org/wiki/Acute_limb_ischaemia | 2021-01-18T18:53:21 | {"icd-9": ["459.9"], "wikidata": ["Q3155223"]} |
A chick with two beaks and three eyes
Diprosopus (Greek διπρόσωπος, "two-faced", from δι-, di-, "two" and πρόσωπον, prósopon [neuter], "face", "person"; with Latin ending), also known as craniofacial duplication (cranio- from Greek κρανίον, "skull", the other parts Latin), is an extremely rare congenital disorde... | Diprosopus | c0266731 | 5,666 | wikipedia | https://en.wikipedia.org/wiki/Diprosopus | 2021-01-18T18:44:42 | {"gard": ["1876"], "orphanet": ["1681"], "synonyms": ["Craniofacial duplication", "Diprosopia"], "wikidata": ["Q32744"]} |
Cutaneous T-cell lymphomas (CTCLs) are a group of disorders characterized by an abnormal accumulation of cancerous T-cells (a type of white blood cells) in the skin resulting in an itchy, red rash that can thicken or form a tumor. CTCLs belong to a larger group of disorders known asnon-Hodgkin's lymphomas. The mo... | Cutaneous T-cell lymphoma | c0079773 | 5,667 | gard | https://rarediseases.info.nih.gov/diseases/6226/cutaneous-t-cell-lymphoma | 2021-01-18T18:01:00 | {"mesh": ["D016410"], "umls": ["C0079773"], "orphanet": ["171901"], "synonyms": ["CTCL"]} |
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.
## Epidemiology
Spinocerebellar ataxia type 32 (SCA32) has been reported in one Chinese family to date.
## Clinical description
Disease onset occurs in adult... | Spinocerebellar ataxia type 32 | c3151343 | 5,668 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276183 | 2021-01-23T18:21:53 | {"omim": ["613909"], "icd-10": ["G11.8"], "synonyms": ["Cerebellar ataxia with azoospermia and intellectual disability", "SCA32"]} |
Glycogen storage disease type 0
Glycogen storage disease type 0 has defect in glycogen synthase
SpecialtyMedical genetics
Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of extra... | Glycogen storage disease type 0 | c0342748 | 5,669 | wikipedia | https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_0 | 2021-01-18T18:47:45 | {"orphanet": ["308520"], "synonyms": ["GSD due to glycogen synthase deficiency", "Glycogenosis due to glycogen synthase deficiency"], "wikidata": ["Q5572606"]} |
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, ... | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | c4014987 | 5,670 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=423454 | 2021-01-23T18:57:37 | {"omim": ["616029"], "icd-10": ["Q82.8"], "synonyms": ["Ectodermal dysplasia-short stature syndrome", "Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"]} |
Four males with the same mother and 2 different fathers showed leukopenia and 'partial' Pelger-Huet anomaly (pseudo-Pelger anomaly) of the neutrophils as well as clinical and cytologic evidence of involvement of the lymphatic system (Heyne, 1976). The mother, clinically normal, showed Pelger-Huet-like changes in neut... | MYELOLYMPHATIC INSUFFICIENCY | c1839650 | 5,671 | omim | https://www.omim.org/entry/310350 | 2019-09-22T16:17:36 | {"omim": ["310350"], "synonyms": ["Alternative titles", "PELGER-LIKE ANOMALY WITH LEUKOPENIA AND SUSCEPTIBILITY TO INFECTIONS"]} |
Encephalitis lethargica (EL) is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscle pain, tremors, neck rigidity, and behavioral changes ... | Encephalitis lethargica | c0014040 | 5,672 | gard | https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica | 2021-01-18T18:00:43 | {"umls": ["C0014040"], "orphanet": ["83600"], "synonyms": ["Von Economo’s disease", "Von Economo encephalitis"]} |
A number sign (#) is used with this entry because of evidence that this form of pigmented hypomaturation-type amelogenesis imperfecta (AI2A1) is caused by homozygous mutation in the kallikrein-4 gene (KLK4; 603767) on chromosome 19q13.
Description
Autosomal recessive amelogenesis imperfecta pigmented hypomaturation... | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 | c0399372 | 5,673 | omim | https://www.omim.org/entry/204700 | 2019-09-22T16:31:10 | {"doid": ["0110057"], "mesh": ["C536606"], "omim": ["204700"], "orphanet": ["100033", "88661"], "synonyms": ["Alternative titles", "AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 1"]} |
A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, ... | Autosomal recessive chorioretinopathy-microcephaly syndrome | c3502492 | 5,674 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2518 | 2021-01-23T17:02:34 | {"mesh": ["C565379"], "omim": ["251270", "616335"], "umls": ["C3502492"], "icd-10": ["Q87.8"], "synonyms": ["Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome"]} |
For other uses, see Locura (disambiguation).
Locura, which translates to "madness" in Spanish,[1][2] is a mental disorder characterized as severe chronic psychosis.[2][3][4] The term refers to a culture-bound syndrome, found mostly in Latin America and Latin Americans in the United States.[5][6][3][7] Also referred ... | Locura | None | 5,675 | wikipedia | https://en.wikipedia.org/wiki/Locura | 2021-01-18T18:56:43 | {"wikidata": ["Q48996017"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive osteopetrosis-4 (OPTB4) is caused by homozygous or compound heterozygous mutation in the CLCN7 gene (602727) on chromosome 16p13.
An autosomal dominant form of osteopetrosis (OPTA2; 166600) is also caused by mutation in CLCN7.
Fo... | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 | c1318518 | 5,676 | omim | https://www.omim.org/entry/611490 | 2019-09-22T16:03:11 | {"doid": ["0110944"], "omim": ["611490"], "orphanet": ["667"], "synonyms": ["Alternative titles", "OSTEOPETROSIS, INFANTILE MALIGNANT 2"], "genereviews": ["NBK1127"]} |
"Infectious disease" redirects here. For the medical specialty, see infectious disease (medical specialty). For the journal, see Infectious Diseases (journal).
For other uses, see Infection (disambiguation).
Invasion of an organism's body tissues by disease-causing agents
Infection
False-colored electron microgr... | Infection | c3714514 | 5,677 | wikipedia | https://en.wikipedia.org/wiki/Infection | 2021-01-18T18:49:04 | {"mesh": ["D007239"], "wikidata": ["Q166231"]} |
Bartter syndrome
Other namesSalt-wasting nephropathy[1]
Scheme of renal tubule and its vascular supply.
SpecialtyEndocrinology
Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium levels (hypokalemia),[2... | Bartter syndrome | c0004775 | 5,678 | wikipedia | https://en.wikipedia.org/wiki/Bartter_syndrome | 2021-01-18T19:00:02 | {"gard": ["5893"], "mesh": ["D001477"], "umls": ["C0004775"], "orphanet": ["112"], "wikidata": ["Q790971"]} |
Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.
## Epidemiology
Less than 200 cases have be reported to date, predominantly from Southern India. Isolated MMND cases have been reported from Thailand and Ita... | Madras motor neuron disease | c0393551 | 5,679 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137867 | 2021-01-23T18:22:41 | {"umls": ["C0393551"], "icd-10": ["G12.2"], "synonyms": ["MMND"]} |
Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms... | Pallister-Killian mosaic syndrome | c0265449 | 5,680 | gard | https://rarediseases.info.nih.gov/diseases/8421/pallister-killian-mosaic-syndrome | 2021-01-18T17:58:28 | {"mesh": ["C538105"], "omim": ["601803"], "umls": ["C0265449"], "orphanet": ["884"], "synonyms": ["Chromosome 12, Isochromosome 12p syndrome", "Killian syndrome", "Killian Teschler-Nicola syndrome", "Pallister mosaic syndrome", "Teschler-Nicola Killian syndrome", "Tetrasomy 12p, mosaic", "Pallister Killian syndrome", "... |
A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.
## Epidemiology
Avera... | Ataxia-telangiectasia | c0004135 | 5,681 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100 | 2021-01-23T17:33:44 | {"gard": ["5862"], "mesh": ["D001260"], "omim": ["208900", "208910"], "umls": ["C0004135"], "icd-10": ["G11.3"], "synonyms": ["Louis-Bar syndrome"]} |
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).
Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by t... | Oral-facial-digital syndrome | c0026363 | 5,682 | medlineplus | https://medlineplus.gov/genetics/condition/oral-facial-digital-syndrome/ | 2021-01-27T08:25:07 | {"gard": ["4121", "3701", "10692"], "mesh": ["D009958"], "omim": ["252100", "311200", "258850", "258860", "258865", "174300", "277170", "608518", "300484", "165590", "612913"], "synonyms": []} |
Hereditary pancreatitis
This condition is inherited in an autosomal dominant manner
Hereditary pancreatitis (HP) is an inflammation of the pancreas due to genetic causes. It was first described in 1952 by Comfort and Steinberg[1] but it was not until 1996 that Whitcomb et al[2] isolated the first responsible m... | Hereditary pancreatitis | c0238339 | 5,683 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_pancreatitis | 2021-01-18T18:55:24 | {"gard": ["6632"], "mesh": ["C537262"], "orphanet": ["676"], "wikidata": ["Q3361967"]} |
## Description
Familial multiple lipomatosis is a rare autosomal dominant disorder characterized by numerous encapsulated lipomas on the trunk and extremities (Keskin et al., 2002).
Clinical Features
Stephens and Isaacson (1959) observed 17 cases in 3 generations. Usually the condition did not become evident ... | LIPOMATOSIS, MULTIPLE | c3489413 | 5,684 | omim | https://www.omim.org/entry/151900 | 2019-09-22T16:38:49 | {"doid": ["3315", "14116"], "mesh": ["D008067"], "omim": ["151900"], "orphanet": ["199276"], "synonyms": ["Alternative titles", "LIPOMATOSIS, FAMILIAL MULTIPLE", "LIPOMA"]} |
Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites).
## Epidemiology
The annual incidence of microsporidiosis is unknown and the geographical distribution of microsporidia remains to be defined. Immunodeficient patients (individuals with HIV, and patients who have undergone a bone marrow... | Microsporidiosis | c0085407 | 5,685 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2552 | 2021-01-23T17:26:40 | {"gard": ["3655"], "mesh": ["D016881"], "umls": ["C0085407"], "icd-10": ["B60.8"]} |
A number sign (#) is used with this entry because of evidence that MIRAGE syndrome (MIRAGE) is caused by heterozygous mutation in the SAMD9 gene (610456) on chromosome 7q21.
Description
MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adre... | MIRAGE SYNDROME | c4284088 | 5,686 | omim | https://www.omim.org/entry/617053 | 2019-09-22T15:47:06 | {"omim": ["617053"], "orphanet": ["494433"], "synonyms": ["Alternative titles", "Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome", "Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome", "MYELODYSPLASIA, INFECT... |
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypog... | Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | c1866256 | 5,687 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363741 | 2021-01-23T17:20:38 | {"mesh": ["C566623"], "omim": ["601794"], "umls": ["C1866256"], "icd-10": ["Q87.8"]} |
Swollen lymph node in the neck due to tick attached behind ear
Cervical lymphadenopathy refers to lymphadenopathy of the cervical lymph nodes (the glands in the neck). The term lymphadenopathy strictly speaking refers to disease of the lymph nodes,[1] though it is often used to describe the enlargement of the lymph ... | Cervical lymphadenopathy | c0235592 | 5,688 | wikipedia | https://en.wikipedia.org/wiki/Cervical_lymphadenopathy | 2021-01-18T18:48:00 | {"umls": ["C0235592"], "wikidata": ["Q5065339"]} |
Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present w... | Low-grade neuroendocrine tumor of the corpus uteri | None | 5,689 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213736 | 2021-01-23T17:31:08 | {"icd-10": ["C54.0", "C54.1", "C54.2", "C54.3", "C54.8"], "synonyms": ["Low-grade neuroendocrine tumor of the uterine corpus", "Well-differentiated neuroendocrine neoplasm of the endometrium", "Well-differentiated neuroendocrine tumor of the corpus uteri", "Well-differentiated neuroendocrine tumor of the endometrium"]} |
The word neuroleptic originates from the Greek word lepsis ("seizure").[1] Antipsychotics (a.k.a. neuroleptics or tranquilizers) were investigated by the anesthesiologists De Castro and Mundeleer who coined the term neuroleptanalgesia, an anesthetic process that involves combining a major neuroleptic tranquilizer/ant... | Neuroleptanalgesic | None | 5,690 | wikipedia | https://en.wikipedia.org/wiki/Neuroleptanalgesic | 2021-01-18T18:30:27 | {"mesh": ["D009458"], "wikidata": ["Q16947814"]} |
Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may... | Northern epilepsy | c1864923 | 5,691 | gard | https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy | 2021-01-18T17:58:39 | {"mesh": ["C537952"], "omim": ["600143"], "orphanet": ["1947"], "synonyms": ["CLN8", "Neuronal ceroid lipofuscinosis 8", "Ceroid lipofuscinosis neuronal 8", "CLN8 disease, late infantile (subtype)", "CLN8 disease, EPMR (subtype)", "CLN8 disease, Northern epilepsy variant", "NCL, Northern epilepsy variant", "Neuronal ce... |
Human disease caused by amoeba protists
Amoebiasis
Other namesAmoebic dysentery, amebiasis, entamoebiasis[1][2]
The life-cycle of various intestinal Entamoeba species
SpecialtyInfectious disease
SymptomsBloody diarrhea, abdominal pain[3]
ComplicationsSevere colitis, colonic perforation, anemia[3]
CausesA... | Amoebiasis | c0002438 | 5,692 | wikipedia | https://en.wikipedia.org/wiki/Amoebiasis | 2021-01-18T18:52:23 | {"gard": ["652"], "mesh": ["D000562"], "umls": ["C0002438"], "wikidata": ["Q949694"]} |
A number sign (#) is used with this entry because of evidence that familial persistent stuttering-1 (STUT1) is caused by heterozygous mutation in the AP4E1 gene (607244) on chromosome 15q21.
Description
Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of s... | STUTTERING, FAMILIAL PERSISTENT, 1 | c3489627 | 5,693 | omim | https://www.omim.org/entry/184450 | 2019-09-22T16:34:19 | {"mesh": ["D013342"], "omim": ["184450"], "synonyms": ["Alternative titles", "STAMMERING"]} |
Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.
Fukuyama congenital muscular dystrophy affects the... | Fukuyama congenital muscular dystrophy | c0410174 | 5,694 | medlineplus | https://medlineplus.gov/genetics/condition/fukuyama-congenital-muscular-dystrophy/ | 2021-01-27T08:24:56 | {"gard": ["6475"], "mesh": ["D058494"], "omim": ["253800"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that stapes ankylosis with broad thumbs and toes is caused by heterozygous mutation in the NOG gene (602991) on chromosome 17q22.
Mutations in the NOG gene can also cause symphalangism and synostosis syndromes.
Clinical Features
Teunissen and Cremers (1... | STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES | c1866656 | 5,695 | omim | https://www.omim.org/entry/184460 | 2019-09-22T16:34:20 | {"mesh": ["C536943"], "omim": ["184460"], "orphanet": ["140917"], "synonyms": ["Alternative titles", "ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY", "TEUNISSEN-CREMERS SYNDROME", "STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM"]} |
A number sign (#) is used with this entry because autosomal recessive nonsyndromic mental retardation-12 (MRT12) can be caused by homozygous mutation in the ST3GAL3 gene (606494) on chromosome 1p34.
Clinical Features
Najmabadi et al. (2007) and Hu et al. (2011) reported 2 unrelated consanguineous Iranian families w... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 | c1970200 | 5,696 | omim | https://www.omim.org/entry/611090 | 2019-09-22T16:03:40 | {"doid": ["0060308"], "mesh": ["C567019"], "omim": ["611090"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
A number sign (#) is used with this entry because of evidence that erythrokeratodermia variabilis et progressiva-3 (EKVP3) is caused by heterozygous mutation in the gene encoding connexin-43 (GJA1; 121014) on chromosome 6q22.
Description
Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients... | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 | c0265961 | 5,697 | omim | https://www.omim.org/entry/617525 | 2019-09-22T15:45:38 | {"doid": ["0080249"], "mesh": ["D056266"], "omim": ["617525"], "orphanet": ["317"]} |
Acquired von Willebrand syndrome (AVWS) is a bleeding disorder that can occur due to a variety of conditions, but is not caused by a VWF gene mutation. It is most often seen in persons over age 40 years with no prior bleeding history. This condition may result from lymphoproliferative disorders, autoimmune disorders ... | Acquired Von Willebrand syndrome | c0272362 | 5,698 | gard | https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome | 2021-01-18T18:02:21 | {"orphanet": ["99147"], "synonyms": ["Willebrand disease, acquired", "Acquired Von Willebrand disease"]} |
Cooks syndrome
Other namesAnonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
Autosomal dominant is the manner of inheritance of this condition
Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, an... | Cooks syndrome | c1862841 | 5,699 | wikipedia | https://en.wikipedia.org/wiki/Cooks_syndrome | 2021-01-18T18:54:58 | {"gard": ["4083"], "mesh": ["C537766"], "umls": ["C1862841"], "orphanet": ["1487"], "wikidata": ["Q5167190"]} |
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