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Reid et al. (1989) described a family in which 12 persons in 4 generations had diffuse cystic angiomatosis of bone. The affected individuals were asymptomatic. Roentgenographically, the lesions occurred throughout the length of long bones and were osteolytic, with a thin sclerotic rim. The cortex of the bone was rare... | CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE | c0029438 | 2,000 | omim | https://www.omim.org/entry/123880 | 2019-09-22T16:42:36 | {"mesh": ["D010015"], "omim": ["123880"], "orphanet": ["73"], "synonyms": ["Alternative titles", "GORHAM-STOUT DISEASE", "OSTEOLYSIS, MASSIVE"]} |
A number sign (#) is used with this entry because type IV syndactyly (SDTY4) is caused by heterozygous mutation in an SHH (600725) regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene (605522).
Clinical Features
Haas (1940) reported this type of syndactyly in a mother and her 2 children. The syndacty... | SYNDACTYLY, TYPE IV | c1861355 | 2,001 | omim | https://www.omim.org/entry/186200 | 2019-09-22T16:32:58 | {"doid": ["11193"], "mesh": ["C566092"], "omim": ["186200"], "orphanet": ["93405"], "synonyms": ["Alternative titles", "HAAS TYPE SYNDACTYLY", "POLYSYNDACTYLY, HAAS TYPE", "SD4"]} |
This article's lead section may be too short to adequately summarize its key points. Please consider expanding the lead to provide an accessible overview of all important aspects of the article. (September 2014)
Alcohol-related dementia (ARD) is a form of dementia caused by long-term, excessive consumption of al... | Alcohol-related dementia | None | 2,002 | wikipedia | https://en.wikipedia.org/wiki/Alcohol-related_dementia | 2021-01-18T18:40:25 | {"wikidata": ["Q4713264"]} |
A number sign (#) is used with this entry because of evidence that this form of hypoplastic amelogenesis imperfecta (AI1J) is caused by homozygous mutation in the ACPT (606362) on chromosome 19q13.
Description
Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and... | AMELOGENESIS IMPERFECTA, TYPE IJ | c0399367 | 2,003 | omim | https://www.omim.org/entry/617297 | 2019-09-22T15:46:09 | {"mesh": ["C538240"], "omim": ["617297"], "orphanet": ["100031"]} |
A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients withou... | Familial or sporadic hemiplegic migraine | c1832884 | 2,004 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=569 | 2021-01-23T18:45:35 | {"gard": ["10768"], "mesh": ["C536890"], "omim": ["141500", "602481", "607516", "609634"], "icd-10": ["G43.1"]} |
Keratitis-ichthyosis-deafness syndrome
Other names"Erythrokeratodermia progressiva Burns"[1]
Keratitis–ichthyosis–deafness syndrome (also known as "Ichthyosiform erythroderma, corneal involvement, and deafness," and "KID syndrome,") presents at birth/infancy and is characterized by progressive corneal opacific... | Keratitis–ichthyosis–deafness syndrome | c1275089 | 2,005 | wikipedia | https://en.wikipedia.org/wiki/Keratitis%E2%80%93ichthyosis%E2%80%93deafness_syndrome | 2021-01-18T18:52:20 | {"gard": ["3113"], "mesh": ["C537363"], "umls": ["C1275089"], "orphanet": ["477"], "wikidata": ["Q1345746"]} |
Fracture of the lateral tibial plateau caused by the bumper of a car
See also: Tibial plateau fracture
Bumper fracture
SpecialtyOrthopedic
A bumper fracture is a fracture of the lateral tibial plateau caused by the bumper of a car coming into contact with the outer side of the knee when a person is stand... | Bumper fracture | None | 2,006 | wikipedia | https://en.wikipedia.org/wiki/Bumper_fracture | 2021-01-18T18:42:24 | {"wikidata": ["Q4997333"]} |
A rare disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
## Epidemiology
The prevalence is unknown.
## Clinical description
Patients present during adolescence or early adulthood... | 46,XY complete gonadal dysgenesis | c2936694 | 2,007 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=242 | 2021-01-23T19:09:01 | {"gard": ["5068"], "mesh": ["D006061"], "omim": ["154230", "233420", "300018", "400044", "612965", "613080", "613762", "616425"], "umls": ["C0018054", "C2936694"], "icd-10": ["Q99.1"], "synonyms": ["46,XY CGD", "46,XY pure gonadal dysgenesis", "Swyer syndrome"]} |
Angor animi
Differential diagnosisacute coronary syndrome
Angor animi (also referred to as angina animi,[1][2] Gairdner's disease[2] and also angina pectoris sine dolore[2]), in medicine, is a symptom defined as a patient's perception that they are in fact dying. Most cases of angor animi are found in patients... | Angor animi | c0549258 | 2,008 | wikipedia | https://en.wikipedia.org/wiki/Angor_animi | 2021-01-18T19:00:57 | {"umls": ["C0549258"], "wikidata": ["Q4763844"]} |
Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mil... | Hypermethioninemia due to glycine N-methyltransferase deficiency | c1847720 | 2,009 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289891 | 2021-01-23T18:31:42 | {"gard": ["10764"], "mesh": ["C564683"], "omim": ["606664"], "umls": ["C1847720"], "icd-10": ["E72.1"], "synonyms": ["Glycine N-methyltransferase deficiency", "Hypermethioninemia due to GNMT deficiency"]} |
Subglottic stenosis
Neck AP x-ray of patient with post-intubation subglottic stenosis, as shown by the narrowing in the tracheal lumen marked by the arrow.
SpecialtyPulmonology
Subglottic stenosis is a congenital or acquired narrowing of the subglottic airway.[1] Although it is relatively rare, it is the thi... | Subglottic stenosis | c0238441 | 2,010 | wikipedia | https://en.wikipedia.org/wiki/Subglottic_stenosis | 2021-01-18T18:57:17 | {"umls": ["C0238441"], "wikidata": ["Q7631147"]} |
Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin. Mutations in the PAX3 gene cause the symptoms observed in this condition. Treatment is symptomatic and supportive. Waardenburg sy... | Waardenburg syndrome type 1 | c1847800 | 2,011 | gard | https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1 | 2021-01-18T17:57:09 | {"mesh": ["D014849"], "omim": ["193500"], "umls": ["C1847800"], "orphanet": ["894"], "synonyms": ["WS1", "Waardenburg's syndrome type 1"]} |
Pseudomonas hot-foot syndrome
SpecialtyDermatology
Pseudomonas hot-foot syndrome is a self-limited cutaneous condition that occurs on the plantar surface of children after swimming in pool water that has high concentrations of P. aeruginosa.[1][2] The condition typically presents as plantar purple-red nodules.... | Pseudomonas hot-foot syndrome | None | 2,012 | wikipedia | https://en.wikipedia.org/wiki/Pseudomonas_hot-foot_syndrome | 2021-01-18T19:06:41 | {"wikidata": ["Q7255050"]} |
Agnosia is characterized by an inability to recognize and identify objects and/or persons. Symptoms may vary, according to the area of the brain that is affected. It can be limited to one sensory modality such as vision or hearing; for example, a person may have difficulty in recognizing an object as a cup or ide... | Agnosia | c0001816 | 2,013 | gard | https://rarediseases.info.nih.gov/diseases/8/agnosia | 2021-01-18T18:02:14 | {"mesh": ["D000377"], "synonyms": ["Primary visual agnosia", "Monomodal visual amnesia", "Visual amnesia"]} |
SYNGAP1-related non-syndromic intellectual disability is a condition that primarily affects the central nervous system. It is characterized by moderate to severe intellectual disability that is usually apparent in the first few years of life. Some affected people may also experience seizures and/or autism spectrum di... | SYNGAP1-related non-syndromic intellectual disability | c2675473 | 2,014 | gard | https://rarediseases.info.nih.gov/diseases/12558/syngap1-related-non-syndromic-intellectual-disability | 2021-01-18T17:57:27 | {"mesh": ["C567234"], "omim": ["612621"], "synonyms": ["MRD5 ", "Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia and Autism ", "SYNGAP1-related NSID", "SYNGAP1 syndrome", "Autosomal dominant intellectual disability 5"]} |
Cantu et al. (1975) reported 3 affected males in a sibship of 13, from second-cousin parents, who had what the authors termed lethal faciocardiomelic dysplasia. They were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands... | FACIOCARDIOMELIC DYSPLASIA, LETHAL | c1856891 | 2,015 | omim | https://www.omim.org/entry/227270 | 2019-09-22T16:27:59 | {"mesh": ["C565578"], "omim": ["227270"], "orphanet": ["1972"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (November 2013)
Urinothorax
Bilateral pleural effusions which later turned out to be urinothorax.
SpecialtyPulmonology
SymptomsSimilar to pleural ef... | Urinothorax | None | 2,016 | wikipedia | https://en.wikipedia.org/wiki/Urinothorax | 2021-01-18T18:57:28 | {"wikidata": ["Q16984194"]} |
"Delusions of grandeur" redirects here. For other uses, see Delusions of grandeur (disambiguation).
For other uses, see Megalomania (disambiguation).
Not to be confused with grandiosity or illusory superiority.
Subtype of delusion
Grandiose delusions
Other namesExpansive delusions
People suffering from gr... | Grandiose delusions | c0233681 | 2,017 | wikipedia | https://en.wikipedia.org/wiki/Grandiose_delusions | 2021-01-18T18:50:05 | {"wikidata": ["Q987664"]} |
Not to be confused with Anencephaly.
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Encephalopathy" – news · newspapers · books · scholar · JSTOR (March 2008) (Learn... | Encephalopathy | c0085584 | 2,018 | wikipedia | https://en.wikipedia.org/wiki/Encephalopathy | 2021-01-18T18:47:38 | {"mesh": ["D001927"], "umls": ["C0085584", "C0006111"], "wikidata": ["Q576349"]} |
For general phenotypic information and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see 254770.
Clinical Features
Ratnapriya et al. (2010) reported a 4-generation family from southern India in which 6 living members had juvenile myoclonic epilepsy. Age at onset ranged from 12 to 20 year... | EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9 | c0270853 | 2,019 | omim | https://www.omim.org/entry/614280 | 2019-09-22T15:55:52 | {"doid": ["0111328"], "mesh": ["D020190"], "omim": ["614280"], "orphanet": ["307"]} |
Complication of chronic kidney disease
Chronic kidney disease-mineral and bone disorder
SpecialtyNephrology
Chronic kidney disease–mineral and bone disorder (CKD-MBD) is one of the many complications associated with chronic kidney disease. It represents a systemic disorder of mineral and bone metabolism due t... | Chronic kidney disease-mineral and bone disorder | c1527410 | 2,020 | wikipedia | https://en.wikipedia.org/wiki/Chronic_kidney_disease-mineral_and_bone_disorder | 2021-01-18T18:31:46 | {"mesh": ["D012080"], "umls": ["CL505711"], "wikidata": ["Q25339734"]} |
Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.
## Epidemiology
The prevalence and annual incidence of NAM a... | Immune-mediated necrotizing myopathy | c3267047 | 2,021 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206569 | 2021-01-23T18:29:57 | {"umls": ["C3267047"], "icd-10": ["G72.4"], "synonyms": ["Anti-HMG-CoA myopathy", "Anti-SRP myopathy", "Autoimmune necrotizing myositis", "IMNM", "Immune myopathy with myocyte necrosis", "NAM"]} |
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and ge... | Weaver-Williams syndrome | None | 2,022 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3448 | 2021-01-23T19:12:24 | {"gard": ["5545"], "icd-10": ["Q87.8"]} |
## Description
Polycystic dysgenetic disease of the parotid gland (PDDP) is a rare benign condition of the parotid gland. The disorder presents often in childhood or young adulthood, but may occur later in life. It occurs most commonly in females. Features include fluctuating and nontender swelling of the parotid g... | PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF | c3551133 | 2,023 | omim | https://www.omim.org/entry/600343 | 2019-09-22T16:16:15 | {"omim": ["600343"]} |
A number sign (#) is used with this entry because hypokalemic periodic paralysis type 2 (HOKPP2) is caused by heterozygous mutation in the SCN4A gene (603967).
Mutations in the SCN4A gene can also cause hyperkalemic periodic paralysis (HYPP; 170500).
For a general phenotypic description and a discussion of genetic ... | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 | c0238358 | 2,024 | omim | https://www.omim.org/entry/613345 | 2019-09-22T15:58:54 | {"doid": ["14452"], "mesh": ["D020514"], "omim": ["613345"], "orphanet": ["681"]} |
Mild phenylketonuria is a rare form of phenylketouria (PKU variant), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU. Clinical signs include reduced cogniti... | Mild phenylketonuria | None | 2,025 | gard | https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria | 2021-01-18T17:59:03 | {"umls": ["C0543528"], "orphanet": ["79253"], "synonyms": ["Mild PKU", "mPKU", "Variant phenylketonuria", "Variant PKU"]} |
A number sign (#) is used with this entry because of evidence that ectodermal dysplasia/skin fragility syndrome is caused by homozygous or compound heterozygous mutation in the plakophilin-1 gene (PKP1; 601975) on chromosome 1q32.
Clinical Features
McGrath et al. (1997, 1999) described a boy with a unique skin diso... | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | c1858302 | 2,026 | omim | https://www.omim.org/entry/604536 | 2019-09-22T16:11:54 | {"mesh": ["C536183"], "omim": ["604536"], "orphanet": ["158668"], "synonyms": ["Alternative titles", "MCGRATH SYNDROME"]} |
Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.
## Epidemiology
Prevalence is unknown. The male to female ratio is of 3:1.
## Clin... | Oligomeganephronia | c0431694 | 2,027 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2260 | 2021-01-23T18:12:53 | {"gard": ["4066"], "icd-10": ["Q60.4"], "synonyms": ["Oligomeganephronic renal hypoplasia"]} |
A number sign (#) is used with this entry because of evidence that SHORT syndrome can be caused by heterozygous mutation in the PIK3R1 gene (171833) on chromosome 5q13.
Description
'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) ... | SHORT SYNDROME | c0878684 | 2,028 | omim | https://www.omim.org/entry/269880 | 2019-09-22T16:22:25 | {"mesh": ["C537327"], "omim": ["269880"], "orphanet": ["3163"], "synonyms": ["Alternative titles", "SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY", "LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE"], "genereviews": ["NBK201365"]} |
This article is about a neuromuscular disorder of boys caused by a genetic defect in the UBA1 gene. For other conditions with similar name, see Spinal muscular atrophies.
X-linked spinal muscular atrophy type 2
Other namesSpinal muscular atrophy with arthrogryposis
This condition is inherited in an X-linked rece... | X-linked spinal muscular atrophy type 2 | c1844934 | 2,029 | wikipedia | https://en.wikipedia.org/wiki/X-linked_spinal_muscular_atrophy_type_2 | 2021-01-18T19:06:43 | {"mesh": ["C535380"], "umls": ["C1844934"], "orphanet": ["1145"], "wikidata": ["Q8041562"]} |
## Summary
### Clinical characteristics.
Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep vein thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in... | Factor V Leiden Thrombophilia | c1861171 | 2,030 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1368/ | 2021-01-18T21:27:10 | {"mesh": ["C566056"], "synonyms": ["Hereditary Resistance to Activated Protein C"]} |
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.
## Epidemiology
The disorder is thought to affect approximately 1/100,000 individuals. Chronic hiccup affect males more often tha... | Chronic hiccup | c0744898 | 2,031 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=396 | 2021-01-23T17:51:28 | {"gard": ["6657"]} |
A number sign (#) is used with this entry because of evidence that this late-onset form of autosomal recessive congenital ichthyosis (ARCI8) can be caused by homozygous mutation in the LIPN gene (613924) on chromosome 10q23.
Description
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of di... | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 | c3553029 | 2,032 | omim | https://www.omim.org/entry/613943 | 2019-09-22T15:57:01 | {"doid": ["0060717"], "mesh": ["D017490"], "omim": ["613943"], "icd-10": ["Q80.2"], "orphanet": ["313"], "synonyms": ["ICHTHYOSIS, LAMELLAR, 4, FORMERLY", "LI", "Congenital lamellar ichthyosis", "Alternative titles", "LAMELLAR ICHTHYOSIS, LATE-ONSET", "Classic lamellar ichthyosis"], "genereviews": ["NBK1420"]} |
A number sign (#) is used with this entry because Bardet-Biedl syndrome-4 (BBS4) is caused by homozygous mutation in the BBS4 gene (600374) on chromosome 15q24.
Description
BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts f... | BARDET-BIEDL SYNDROME 4 | c0752166 | 2,033 | omim | https://www.omim.org/entry/615982 | 2019-09-22T15:50:29 | {"doid": ["0110126"], "mesh": ["D020788"], "omim": ["615982"], "orphanet": ["110"]} |
Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial ... | Distal trisomy 22q | c4706936 | 2,034 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96109 | 2021-01-23T18:15:17 | {"icd-10": ["Q92.3"], "synonyms": ["Distal duplication 22q", "Telomeric duplication 22q", "Trisomy 22qter"]} |
Periorbital cellulitis
Other namesPreseptal cellulitis
Periorbital cellulitis caused by a dental infection (also causing maxillary sinusitis)
SpecialtyOphthalmology
Periorbital cellulitis (not to be confused with orbital cellulitis, which is posterior to the orbital septum), is an inflammation and infectio... | Periorbital cellulitis | c0149754 | 2,035 | wikipedia | https://en.wikipedia.org/wiki/Periorbital_cellulitis | 2021-01-18T18:53:55 | {"umls": ["C0149754"], "icd-9": ["373.13"], "icd-10": ["L01.1"], "wikidata": ["Q7168676"]} |
A number sign (#) is used with this entry because fragile X (FXS) is caused by mutation in the FMR1 gene (309550). The vast majority of cases are caused by a trinucleotide (CGG)n repeat expansion (309550.0004) of greater than 200 repeats.
See also fragile X tremor/ataxia syndrome (FXTAS; 300623), which is caused... | FRAGILE X SYNDROME | c0016667 | 2,036 | omim | https://www.omim.org/entry/300624 | 2019-09-22T16:19:54 | {"doid": ["14261"], "mesh": ["D005600"], "omim": ["300624"], "icd-9": ["759.83"], "icd-10": ["Q99.2"], "orphanet": ["908", "449291"], "synonyms": ["Alternative titles", "FRAGILE X MENTAL RETARDATION SYNDROME", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "X-LINKED MENTAL RETARDATION AND MACROORCHIDISM", "MA... |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue. The condition is progressive and over time the right ventricle loses the ability to pump blood. Individuals with ARVC often develop abno... | Arrhythmogenic right ventricular cardiomyopathy | c0349788 | 2,037 | gard | https://rarediseases.info.nih.gov/diseases/5847/arrhythmogenic-right-ventricular-cardiomyopathy | 2021-01-18T18:02:02 | {"mesh": ["D019571"], "omim": ["107970"], "umls": ["C0349788"], "orphanet": ["247"], "synonyms": ["ARVD", "ARVC", "Arrhythmogenic right ventricular dysplasia"]} |
Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-orga... | Subcortical band heterotopia | c0431375 | 2,038 | medlineplus | https://medlineplus.gov/genetics/condition/subcortical-band-heterotopia/ | 2021-01-27T08:25:38 | {"gard": ["1904"], "mesh": ["D054221"], "omim": ["607432", "300067"], "synonyms": []} |
Chondronectin is a distinct glycoprotein similar in structure and function to fibronectin. It is present in plasma in the concentration of about 20 micrograms per ml. In tissues, it is limited to cartilage and vitreous, which are also the sites of type II collagen, and functions in relation to chondrocytes and type I... | CHONDRONECTIN | c3887693 | 2,039 | omim | https://www.omim.org/entry/118670 | 2019-09-22T16:43:20 | {"omim": ["118670"]} |
This article is about the animal disease. For other uses, see Blackleg (disambiguation).
Early signs: swelling of the thigh, with leg up and tail raised (arrows)
Recovered calf after removing of all necrotic tissue
Blackleg, black quarter, quarter evil, or quarter ill (Latin: gangraena emphysematosa) is an infecti... | Blackleg (disease) | None | 2,040 | wikipedia | https://en.wikipedia.org/wiki/Blackleg_(disease) | 2021-01-18T18:32:25 | {"wikidata": ["Q699921"]} |
Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.
People with this condition usually experience symptoms after cold exposure of an hour or more, al... | Familial cold autoinflammatory syndrome | c0343068 | 2,041 | medlineplus | https://medlineplus.gov/genetics/condition/familial-cold-autoinflammatory-syndrome/ | 2021-01-27T08:25:32 | {"gard": ["9535"], "mesh": ["D056587"], "omim": ["120100", "611762"], "synonyms": []} |
Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cance... | Hereditary site-specific ovarian cancer syndrome | None | 2,042 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213524 | 2021-01-23T17:49:11 | {"icd-10": ["C56"]} |
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late c... | Alport syndrome | c1567741 | 2,043 | gard | https://rarediseases.info.nih.gov/diseases/5785/alport-syndrome | 2021-01-18T18:02:11 | {"mesh": ["D009394"], "omim": ["301050"], "orphanet": ["63"], "synonyms": ["Alport syndrome, X-linked", "Hemorrhagic familial nephritis", "Hemorrhagic hereditary nephritis", "Congenital hereditary hematuria"]} |
Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about... | Imerslund-Grasbeck syndrome | c1306856 | 2,044 | gard | https://rarediseases.info.nih.gov/diseases/7006/imerslund-grasbeck-syndrome | 2021-01-18T17:59:49 | {"omim": ["261100"], "orphanet": ["35858"], "synonyms": ["IGS", "Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria", "Enterocyte cobalamin malabsorption", "Defect of enterocyte intrinsic factor receptor", "Familial megaloblastic anemia", "Selective cobalamin malabso... |
A nonprogressive disorder with multiple mild flexion contractures developing in infancy was described in 2 brothers by Fenichel et al. (1971). Motor strength was normal. Lower limb tendon reflexes were exaggerated but plantar responses were flexor. Associated findings were borderline normal intelligence, speech defec... | DYSTONIA WITH RINGBINDEN | c1857089 | 2,045 | omim | https://www.omim.org/entry/224550 | 2019-09-22T16:28:27 | {"mesh": ["C565608"], "omim": ["224550"]} |
## Description
Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the dysregulated proliferation of Langerhans cells and subsequent organ infiltration. Clinical manifestations range from a spontaneously healing isolated osteolytic lesion to a lymphoma-like syndrome with fatal multiorgan failure... | LANGERHANS CELL HISTIOCYTOSIS | c0019621 | 2,046 | omim | https://www.omim.org/entry/604856 | 2019-09-22T16:11:42 | {"doid": ["2571"], "mesh": ["D006646"], "omim": ["604856"], "icd-10": ["C96.6", "C96.5"], "orphanet": ["389"], "synonyms": ["Alternative titles", "LCH"]} |
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.
## Epidemiology
It has been clinically and molecularly characterized in 3 patients.
## Clinical description
Dysmorphic features incl... | 20p12.3 microdeletion syndrome | c4304539 | 2,047 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261295 | 2021-01-23T19:09:59 | {"gard": ["12492"], "icd-10": ["Q93.5"], "synonyms": ["Del(20)(p12.3)", "Monosomy 20p12.3"]} |
Junctional ectopic tachycardia
Other namesHis bundle tachycardia
SpecialtyCardiology
CausesPost-cardiac surgery
Differential diagnosisAV nodal re-entrant tachycardia
TreatmentCorrection of acidosis and electrolyte disturbances, antiarrhythmic medication, catheter ablation
MedicationAmiodarone, propranolol... | Junctional ectopic tachycardia | c0039235 | 2,048 | wikipedia | https://en.wikipedia.org/wiki/Junctional_ectopic_tachycardia | 2021-01-18T18:59:10 | {"gard": ["2706"], "mesh": ["D013613"], "umls": ["C0039235"], "orphanet": ["3283"], "wikidata": ["Q3513620"]} |
## Summary
### Clinical characteristics.
SCN8A-related epilepsy with encephalopathy is characterized by developmental delay, seizure onset in the first 18 months of life (mean 4 months), and intractable epilepsy characterized by multiple seizure types (generalized tonic-clonic seizures, infantile spasms, and ab... | SCN8A-Related Epilepsy with Encephalopathy | c3281191 | 2,049 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK379665/ | 2021-01-18T20:59:40 | {"synonyms": ["Early-Infantile Epileptic Encephalopathy 13 (EIEE13)"]} |
Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolis... | Lemierre syndrome | c0343525 | 2,050 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137839 | 2021-01-23T18:03:13 | {"gard": ["6882"], "mesh": ["D057831"], "umls": ["C0343525"], "icd-10": ["I80.8"], "synonyms": ["Lemierre postanginal sepsis", "Postanginal sepsis secondary to orophyngeal infection", "Septic phlebitis of the internal jugular vein"]} |
A number sign (#) is used with this entry because of evidence that a syndrome involving cutaneous telangiectasia, mild developmental anomalies of hair, teeth, and nails, and a predisposition to cancer, predominantly oropharyngeal, is caused by heterozygous mutation in the ATR gene (601215) on chromosome 3q23. One suc... | CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL | c3281203 | 2,051 | omim | https://www.omim.org/entry/614564 | 2019-09-22T15:54:52 | {"omim": ["614564"], "orphanet": ["313846"], "synonyms": ["Alternative titles", "TELANGIECTASIA, CUTANEOUS, AND CANCER SYNDROME, FAMILIAL"]} |
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, up... | Larsen-like syndrome, B3GAT3 type | c3278404 | 2,052 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284139 | 2021-01-23T18:19:39 | {"omim": ["245600"], "icd-10": ["Q74.8"], "synonyms": ["Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"]} |
Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.
*[v]:... | Oculoosteocutaneous syndrome | c1859385 | 2,053 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2713 | 2021-01-23T18:22:11 | {"mesh": ["C565893"], "omim": ["211370"], "umls": ["C1859385"], "icd-10": ["Q87.5"]} |
A number sign (#) is used with this entry because of evidence that the phenotype of hereditary increase of red blood cell ATP is caused by heterozygous mutation in the PKLR (609712) on chromosome 1q22.
Clinical Features
Brewer (1965) in the United States and Zurcher et al. (1965) in Holland described high erythrocy... | ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES | c1863224 | 2,054 | omim | https://www.omim.org/entry/102900 | 2019-09-22T16:45:17 | {"mesh": ["C566310"], "omim": ["102900"], "synonyms": ["Alternative titles", "PYRUVATE KINASE HYPERACTIVITY"]} |
Wikipedia list article
Main article: Mass psychogenic illness
In sociology and psychology, mass hysteria (also known as mass psychogenic illness, collective hysteria, group hysteria, or collective obsessional behavior) is a phenomenon that transmits collective illusions of threats, whether real or imaginary, throug... | List of mass hysteria cases | None | 2,055 | wikipedia | https://en.wikipedia.org/wiki/List_of_mass_hysteria_cases | 2021-01-18T19:09:59 | {"wikidata": ["Q847836"]} |
Subepidermal calcified nodule
Other namesSolitary congenital nodular calcification[1] and Winer's nodular calcinosis[1])
Histologic sample of subepidermal calcified nodule
SpecialtyDermatology
Subepidermal calcified nodule is a type of Calcinosis cutis. It's a cutaneous condition characterized by calci... | Subepidermal calcified nodule | c0546395 | 2,056 | wikipedia | https://en.wikipedia.org/wiki/Subepidermal_calcified_nodule | 2021-01-18T18:57:49 | {"umls": ["C0546395"], "wikidata": ["Q7631121"]} |
Spontaneous flow of milk from the breast
Galactorrhea
SpecialtyObstetrics
Galactorrhea (also spelled galactorrhoea) (galacto- \+ -rrhea) or lactorrhea (lacto- \+ -rrhea) is the spontaneous flow of milk from the breast, unassociated with childbirth or nursing.
Galactorrhea is reported to occur in 5–32% of... | Galactorrhea | c3665358 | 2,057 | wikipedia | https://en.wikipedia.org/wiki/Galactorrhea | 2021-01-18T18:53:15 | {"mesh": ["D005687"], "umls": ["C0235660", "C3665358"], "icd-9": ["611.6"], "icd-10": ["O92.6", "N64.3"], "wikidata": ["Q278515"]} |
Bartholin's cyst
Other namesBartholinitis, Bartholin's duct cyst, Bartholin's abscess
Bartholin's cyst of the right side
SpecialtyGynecology
SymptomsSwelling of one side of the vagina, pain[1]
ComplicationsAbscess[2]
Usual onsetChildbearing age[2]
CausesTypically unknown[1]
Diagnostic methodBased ... | Bartholin's cyst | c0004767 | 2,058 | wikipedia | https://en.wikipedia.org/wiki/Bartholin%27s_cyst | 2021-01-18T18:54:07 | {"umls": ["C0004767"], "wikidata": ["Q574406"]} |
Squamous odontogenic tumors (SOTs) are very rare benign locally infiltrative odontogenic neoplasms of epithelial origin. Only some 50 cases have been documented. They occur mostly from 20-40 and are more common in males. Treatment is by simple enucleation and local curettage, and recurrence is rare.[1]
## Clinic... | Squamous odontogenic tumor | c1458142 | 2,059 | wikipedia | https://en.wikipedia.org/wiki/Squamous_odontogenic_tumor | 2021-01-18T18:36:27 | {"mesh": ["D051527"], "wikidata": ["Q7581957"]} |
## Description
Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine a... | CELIAC DISEASE, SUSCEPTIBILITY TO, 5 | c1846631 | 2,060 | omim | https://www.omim.org/entry/607202 | 2019-09-22T16:09:32 | {"omim": ["607202"], "synonyms": ["Alternative titles", "GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 5", "GSES"]} |
A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lowe... | Autosomal dominant spastic paraplegia type 42 | c2675528 | 2,061 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171863 | 2021-01-23T17:03:24 | {"mesh": ["C567262"], "omim": ["612539"], "umls": ["C2675528"], "icd-10": ["G11.4"], "synonyms": ["SPG42"]} |
Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It is often caused by a com... | Hemolytic uremic syndrome, atypical, childhood | None | 2,062 | gard | https://rarediseases.info.nih.gov/diseases/9432/hemolytic-uremic-syndrome-atypical-childhood | 2021-01-18T18:00:06 | {"synonyms": ["Atypical childhood HUS"]} |
Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headach... | Episodic ataxia | c1866039 | 2,063 | medlineplus | https://medlineplus.gov/genetics/condition/episodic-ataxia/ | 2021-01-27T08:25:54 | {"gard": ["9851"], "mesh": ["C566601"], "omim": ["601949", "160120", "108500", "606554", "606552", "611907", "600111"], "synonyms": []} |
Papillary thyroid cancer
Papillary thyroid carcinoma.
SpecialtyENT surgery
Papillary thyroid cancer or papillary thyroid carcinoma[1] is the most common type of thyroid cancer,[2] representing 75 percent to 85 percent of all thyroid cancer cases.[1] It occurs more frequently in women and presents in the 20–5... | Papillary thyroid cancer | c0238463 | 2,064 | wikipedia | https://en.wikipedia.org/wiki/Papillary_thyroid_cancer | 2021-01-18T18:34:53 | {"gard": ["12027"], "mesh": ["D000077273"], "umls": ["C0238463"], "icd-9": ["193"], "icd-10": ["C73"], "wikidata": ["Q2292945"]} |
Abnormal basal metabolic rate
SpecialtyEndocrinology
Abnormal basal metabolic rate refers to a high or low basal metabolic rate (BMR). It has numerous causes, both physiological (part of the body's normal function) and pathological (associated with disease).
## Contents
* 1 Causes
* 1.1 Physiologic... | Abnormal basal metabolic rate | c0476418 | 2,065 | wikipedia | https://en.wikipedia.org/wiki/Abnormal_basal_metabolic_rate | 2021-01-18T18:29:07 | {"umls": ["C0476418", "C2711647"], "wikidata": ["Q4668176"]} |
Medical condition
For other uses, see Dry.
This article provides insufficient context for those unfamiliar with the subject. Please help improve the article by providing more context for the reader. (November 2018) (Learn how and when to remove this template message)
This article needs attention from an expert... | Dryness (medical) | c0854113 | 2,066 | wikipedia | https://en.wikipedia.org/wiki/Dryness_(medical) | 2021-01-18T18:58:26 | {"umls": ["C0854113", "C0151908"], "wikidata": ["Q5309747"]} |
Bent bone dysplasia syndrome is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely spaced eyes (hyper... | Bent bone dysplasia syndrome | c3281247 | 2,067 | gard | https://rarediseases.info.nih.gov/diseases/10965/bent-bone-dysplasia-syndrome | 2021-01-18T18:01:49 | {"omim": ["614592"], "synonyms": ["Bent bone dysplasia (BBD)-FGFR2 type"]} |
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic... | TARP syndrome | c1839463 | 2,068 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2886 | 2021-01-23T17:54:45 | {"gard": ["10089"], "mesh": ["C536942"], "omim": ["311900"], "umls": ["C1839463"], "icd-10": ["Q87.8"], "synonyms": ["Pierre Robin sequence-congenital heart defect-talipes syndrome", "Pierre Robin syndrome-congenital heart defect-talipes syndrome", "Talipes equinovarus-atrial septal defect-Robin sequence-persistence of... |
A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
## Epidemiology
The prevalence is estimated at around 1/200,000.
## Clinical description
Attacks of muscle weakness generally begin during childhood (first decade). They vary i... | Hyperkalemic periodic paralysis | c0238357 | 2,069 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=682 | 2021-01-23T19:04:13 | {"gard": ["195"], "mesh": ["C535409", "D020513"], "omim": ["170500"], "umls": ["C0238357", "C2930895"], "icd-10": ["G72.3"], "synonyms": ["Adynamia episodica hereditaria", "Familial hyperPP", "Familial hyperkalemic periodic paralysis", "Gamstorp disease", "Gamstorp episodic adynamy", "HYPP", "HyperKPP", "HyperPP", "Hyp... |
A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acu... | Isovaleric acidemia | c0268575 | 2,070 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33 | 2021-01-23T17:17:31 | {"gard": ["465"], "mesh": ["C538167"], "omim": ["243500"], "umls": ["C0268575"], "icd-10": ["E71.1"], "synonyms": ["Isovaleric acid CoA dehydrogenase deficiency"]} |
Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.
## Epidemiology
Prevalence in Europe is about 1/130 000.
## Clinical description
The clinical picture is identical to that of Tay-Sachs disease, with startle reactions, ... | Sandhoff disease | c0036161 | 2,071 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=796 | 2021-01-23T18:11:08 | {"gard": ["2521", "7604"], "mesh": ["D012497"], "omim": ["268800"], "umls": ["C0036161"], "icd-10": ["E75.0"], "synonyms": ["GM2 gangliosidosis 0 variant", "Hexosaminidases A and B deficiency"]} |
In Sint Maarten, a Dutch Caribbean constituent country of the Kingdom of the Netherlands, foreign policy is set by the Netherlands but all other laws including those related to abortion are self-determined. Abortion in Sint Maarten is illegal, although it may be permissible in circumstances where a pregnancy threaten... | Abortion in Sint Maarten | None | 2,072 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Sint_Maarten | 2021-01-18T18:53:41 | {"wikidata": ["Q18161468"]} |
Small, rough growth resembling a cauliflower or a solid blister
For other uses, see Wart (disambiguation).
Warts
Other namesVerrucae,[1] papillomas[2]
A large number of warts on the big toe
SpecialtyDermatology
SymptomsPainless, small, rough skin growth[1][3]
DurationMonths to years[1]
CausesHuman p... | Wart | c3665596 | 2,073 | wikipedia | https://en.wikipedia.org/wiki/Wart | 2021-01-18T18:31:11 | {"mesh": ["D014860"], "umls": ["C3665596"], "icd-9": ["078.1"], "icd-10": ["B07"], "wikidata": ["Q101971"]} |
Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). P... | Pure mitochondrial myopathy | c4517289 | 2,074 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254854 | 2021-01-23T16:53:19 | {"icd-10": ["G71.3"]} |
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.
Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone ... | Aromatic l-amino acid decarboxylase deficiency | c1291564 | 2,075 | medlineplus | https://medlineplus.gov/genetics/condition/aromatic-l-amino-acid-decarboxylase-deficiency/ | 2021-01-27T08:25:38 | {"gard": ["770"], "omim": ["608643"], "synonyms": []} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (February 2017)
Maternal hypothyroidism is hypothyroidism in pregnant mothers.[1] Even with appropriate treatment, it may pose risks not only to the mothe... | Maternal hypothyroidism | c0262548 | 2,076 | wikipedia | https://en.wikipedia.org/wiki/Maternal_hypothyroidism | 2021-01-18T18:33:43 | {"umls": ["C0262548"], "wikidata": ["Q17006575"]} |
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
## Epidemiology
It has been described in 11 patients from a four generation family.
## Clinical description
There is no other unusual feat... | Short tarsus-absence of lower eyelashes syndrome | c1838328 | 2,077 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2832 | 2021-01-23T17:33:35 | {"gard": ["296"], "mesh": ["C537036"], "omim": ["600269"], "umls": ["C1838328"], "icd-10": ["Q87.2"], "synonyms": ["Lopes-Gorlin syndrome"]} |
Dizziness resulting from unequal pressures in the middle ears
Alternobaric vertigo
SpecialtyOtorhinolaryngology, diving medicine
In aviation and underwater diving, alternobaric vertigo is dizziness resulting from unequal pressures being exerted between the ears due to one Eustachian tube being less patent tha... | Alternobaric vertigo | c0413281 | 2,078 | wikipedia | https://en.wikipedia.org/wiki/Alternobaric_vertigo | 2021-01-18T18:36:24 | {"umls": ["C0413281"], "wikidata": ["Q4736617"]} |
A number sign (#) is used with this entry because autosomal recessive nonsyndromic mental retardation-18 is caused by homozygous mutation in the MED23 gene (605042) on chromosome 6q23.2.
Clinical Features
Hashimoto et al. (2011) reported a large Algerian consanguineous multiplex family in which 5 affected indiv... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 | c3280265 | 2,079 | omim | https://www.omim.org/entry/614249 | 2019-09-22T15:55:57 | {"doid": ["0060308"], "omim": ["614249"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
A number sign (#) is used with this entry because of evidence that phosphoserine aminotransferase deficiency (PSATD) is caused by compound heterozygous mutation in the PSAT1 gene (610936) on chromosome 9q21. One such family has been reported.
Description
Deficiency of phosphoserine aminotransferase (PSAT) is charac... | PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY | c1970253 | 2,080 | omim | https://www.omim.org/entry/610992 | 2019-09-22T16:03:47 | {"doid": ["0050723"], "mesh": ["C567032"], "omim": ["610992"], "orphanet": ["284417"], "synonyms": ["Alternative titles", "PSAT DEFICIENCY"]} |
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle ... | Adult-onset distal myopathy due to VCP mutation | None | 2,081 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329478 | 2021-01-23T18:11:38 | {"icd-10": ["G71.0"]} |
Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.
## Epidemiology
Prevalence is estimated at 1... | Ebstein malformation | c0013481 | 2,082 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1880 | 2021-01-23T19:02:11 | {"gard": ["6313"], "mesh": ["D004437"], "omim": ["224700"], "umls": ["C0013481"], "icd-10": ["Q22.5"], "synonyms": ["Ebstein anomaly of the tricuspid valve"]} |
Phacomatosis pigmentovascularis (PPV) is a disorder characterized by the co-existence of vascular and pigmentary birthmarks. Signs and symptoms may include port wine stain, melanocytic nevi (commonly known as moles), epidermal nevi, dermal melanocytosis (areas of blue-gray discoloration), nevus spilus, and patches of... | Phacomatosis pigmentovascularis | c1274879 | 2,083 | gard | https://rarediseases.info.nih.gov/diseases/4312/phacomatosis-pigmentovascularis | 2021-01-18T17:58:20 | {"mesh": ["C537894"], "umls": ["C1274879"], "synonyms": ["Association of cutaneous vascular malformations and different pigmentary disorders", "PPV", "Phakomatosis pigmentovascularis"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Saccharopinuria" – news · newspapers · books · scholar · JSTOR (August 2010) (Learn how and when to remove this templat... | Saccharopinuria | c0268556 | 2,084 | wikipedia | https://en.wikipedia.org/wiki/Saccharopinuria | 2021-01-18T19:08:04 | {"gard": ["314"], "mesh": ["C537218", "D020167"], "umls": ["C0268556", "C2936921"], "icd-9": ["270.7"], "orphanet": ["3124"], "wikidata": ["Q7396610"]} |
Tarsal tunnel syndrome
Other namesPosterior tibial neuralgia
The mucous sheaths of the tendons around the ankle. Medial aspect.
SpecialtyNeurology
Tarsal tunnel syndrome (TTS), is a compression neuropathy and painful foot condition in which the tibial nerve is compressed as it travels through the tarsa... | Tarsal tunnel syndrome | c0039319 | 2,085 | wikipedia | https://en.wikipedia.org/wiki/Tarsal_tunnel_syndrome | 2021-01-18T18:49:02 | {"gard": ["7733"], "mesh": ["D013641"], "umls": ["C0039319"], "wikidata": ["Q1410673"]} |
Movement disorder that causes involuntary tremors
Essential tremor
Other namesIdiopathic tremor
Archimedean spiral drawings from a man with a unilateral essential tremor. The spiral on the left was drawn by the subject using the left hand, and the one on the right using the right hand.
SpecialtyNeurology ... | Essential tremor | c0270736 | 2,086 | wikipedia | https://en.wikipedia.org/wiki/Essential_tremor | 2021-01-18T18:47:00 | {"gard": ["5910"], "mesh": ["D020329"], "umls": ["C0270736"], "orphanet": ["862"], "wikidata": ["Q693519"]} |
Coloboma of the optic nerve is a congenital eye abnormality in which the optic nerve (which carries images of what the eye sees to the brain) is incompletely formed. The condition may occur in one or both eyes. The degree of visual impairment varies widely depending on the severity and structures involved. Serous... | Coloboma of optic nerve | c0155299 | 2,087 | gard | https://rarediseases.info.nih.gov/diseases/8502/coloboma-of-optic-nerve | 2021-01-18T18:01:13 | {"mesh": ["C535970"], "omim": ["120430"], "umls": ["C0155299"], "synonyms": ["Optic nerve head pits, bilateral congenital", "Congenital coloboma of the optic nerve", "Optic nerve coloboma"]} |
Bleeding on probing (BoP) which is also known as bleeding gums or gingival bleeding is a term used by dentists and dental hygienists when referring to bleeding that is induced by gentle manipulation of the tissue at the depth of the gingival sulcus, or interface between the gingiva and a tooth. BoP is a sign of peri... | Bleeding on probing | c2698524 | 2,088 | wikipedia | https://en.wikipedia.org/wiki/Bleeding_on_probing | 2021-01-18T18:28:13 | {"wikidata": ["Q4925923"]} |
Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe se... | Autosomal recessive spastic paraplegia type 66 | None | 2,089 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401815 | 2021-01-23T17:00:55 | {"icd-10": ["G11.4"], "synonyms": ["SPG66"]} |
## Description
Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss.
For a discussion of genetic heterogeneity of optic atrophy... | OPTIC ATROPHY 8 | c1832466 | 2,090 | omim | https://www.omim.org/entry/616648 | 2019-09-22T15:48:21 | {"mesh": ["C535351"], "omim": ["616648"], "orphanet": ["1215"]} |
Involuntary muscle spasm prevents vaginal penetration.
Not to be confused with Vaginitis.
Vaginismus
Other namesVaginism, genito-pelvic pain disorder[1]
Muscles included
SpecialtyGynecology
SymptomsPain with sex[2]
Usual onsetWith first sexual intercourse[3]
CausesFear of pain[3]
Risk factorsHistory o... | Vaginismus | c2004487 | 2,091 | wikipedia | https://en.wikipedia.org/wiki/Vaginismus | 2021-01-18T18:39:56 | {"mesh": ["D052065"], "umls": ["C2004487"], "icd-9": ["625.1"], "icd-10": ["N94.2"], "wikidata": ["Q1128431"]} |
Johnston et al. (1993) described 2 infant brothers with joint contractures and hyperkeratotic skin changes. Severe hypoplasia of the dorsal roots and posterior columns was found in 1 sib examined at autopsy.
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... | ARTHROGRYPOSIS WITH HYPERKERATOSIS | c1859710 | 2,092 | omim | https://www.omim.org/entry/208158 | 2019-09-22T16:30:51 | {"mesh": ["C535883"], "omim": ["208158"], "orphanet": ["1485"]} |
Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2 or ... | Coffin-Siris syndrome | c0265338 | 2,093 | gard | https://rarediseases.info.nih.gov/diseases/6124/coffin-siris-syndrome | 2021-01-18T18:01:15 | {"mesh": ["C536436"], "omim": ["135900"], "umls": ["C0265338"], "orphanet": ["1465"], "synonyms": ["Fifth digit syndrome", "Intellectual disability with absent fifth fingernail and terminal phalanx"]} |
A number sign (#) is used with this entry because autosomal recessive retinitis pigmentosa-20 (RP20) is caused by homozygous or compound heterozygous mutation in the RPE65 gene (180069) on chromosome 1p31.
Mutations in the RPE65 gene also cause Leber congenital amaurosis (LCA2; 204100).
For a phenotypic description... | RETINITIS PIGMENTOSA 20 | c0035334 | 2,094 | omim | https://www.omim.org/entry/613794 | 2019-09-22T15:57:30 | {"doid": ["0110353"], "mesh": ["D012174"], "omim": ["613794"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
Ligneous conjunctivitis
Other namesConjunctivitis lignosa[1]
SpecialtyOphthalmology
Ligneous conjunctivitis is a rare form of chronic conjunctivitis characterized by recurrent, fibrin-rich pseudomembranous lesions of wood-like consistency that develop mainly on the underside of the eyelid (tarsal conjunctiva... | Ligneous conjunctivitis | c1274789 | 2,095 | wikipedia | https://en.wikipedia.org/wiki/Ligneous_conjunctivitis | 2021-01-18T19:05:04 | {"gard": ["6187"], "mesh": ["C566897"], "umls": ["C1274789"], "orphanet": ["97231"], "wikidata": ["Q6546687"]} |
Renal papillary necrosis
Other namesRenal medullary necrosis[1]
Frontal section through the kidney
SpecialtyUrology, nephrology
SymptomsBack pain, cloudy urine[1]
CausesDiabetic nephropathy, Kidney infection[1]
Diagnostic methodBlood and urine test[1]
TreatmentDepends on cause[1]
Renal papillar... | Renal papillary necrosis | c0022667 | 2,096 | wikipedia | https://en.wikipedia.org/wiki/Renal_papillary_necrosis | 2021-01-18T18:37:03 | {"mesh": ["D007681"], "umls": ["C0022667"], "icd-9": ["584.7"], "icd-10": ["N17.2"], "wikidata": ["Q7312498"]} |
Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanti... | Developmental and speech delay due to SOX5 deficiency | c4225202 | 2,097 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=313892 | 2021-01-23T18:44:33 | {"omim": ["616803"]} |
A number sign (#) is used with this entry because of evidence that ablepharon-macrostomia syndrome (AMS) is caused by heterozygous mutation in the TWIST2 gene (607556) on chromosome 2q37.
Description
Ablepharon-macrostomia syndrome is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, m... | ABLEPHARON-MACROSTOMIA SYNDROME | c1860224 | 2,098 | omim | https://www.omim.org/entry/200110 | 2019-09-22T16:31:44 | {"doid": ["0060550"], "mesh": ["C535557"], "omim": ["200110"], "orphanet": ["920"]} |
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombos... | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | c2751090 | 2,099 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217467 | 2021-01-23T17:45:13 | {"mesh": ["C567737"], "omim": ["613116"], "icd-10": ["D68.5"], "synonyms": ["Hereditary thrombophilia due to congenital HRG deficiency"]} |
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