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Find sources: "Contagious disease" – news · newspapers · books · scholar · JSTOR (September 2016) (Learn how and when to remove this t... | Contagious disease | c0009450 | 1,200 | wikipedia | https://en.wikipedia.org/wiki/Contagious_disease | 2021-01-18T19:05:39 | {"mesh": ["D003141"], "wikidata": ["Q2995419"]} |
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis o... | Osteopetrosis autosomal recessive 6 | c1969093 | 1,201 | gard | https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6 | 2021-01-18T17:58:31 | {"mesh": ["C566931"], "omim": ["611497"], "umls": ["C1969093"], "synonyms": ["OPTB6", "Autosomal recessive osteopetrosis type 6", "Osteopetrosis autosomal recessive intermediate form"]} |
The leg of this Pisaster ochraceus sea star in Oregon is disintegrating as a result of sea star wasting syndrome
Sea star wasting disease or starfish wasting syndrome is a disease of starfish and several other echinoderms that appears sporadically, causing mass mortality of those affected.[1] There are around 40 dif... | Sea star wasting disease | None | 1,202 | wikipedia | https://en.wikipedia.org/wiki/Sea_star_wasting_disease | 2021-01-18T18:36:22 | {"wikidata": ["Q15241744"]} |
A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to mo... | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | c1832855 | 1,203 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53583 | 2021-01-23T18:41:07 | {"mesh": ["C563401"], "omim": ["601042"], "umls": ["C1832855"], "icd-10": ["G24.8"], "synonyms": ["DYT9", "Episodic choreoathetosis/spasticity"]} |
Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs a... | Idiopathic acute eosinophilic pneumonia | c4518469 | 1,204 | gard | https://rarediseases.info.nih.gov/diseases/519/idiopathic-acute-eosinophilic-pneumonia | 2021-01-18T17:59:50 | {"orphanet": ["724"], "synonyms": ["IAEP"]} |
A number sign (#) is used with this entry because Leber congenital amaurosis-15 and juvenile retinitis pigmentosa are caused by homozygous or compound heterozygous mutation in the TULP1 gene (602280) on chromosome 6p21.3.
Description
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous gr... | LEBER CONGENITAL AMAUROSIS 15 | c0339527 | 1,205 | omim | https://www.omim.org/entry/613843 | 2019-09-22T15:57:16 | {"doid": ["0110189"], "mesh": ["D057130"], "omim": ["613843"], "orphanet": ["65"], "genereviews": ["NBK531510"]} |
## Clinical Features
Reid et al. (1998) reported 4 individuals from 2 generations of a family who had recurrent episodes of parotitis beginning in childhood and, in the only adult at the time of report, remitting at the age of 14 years. In this individual, however, the episodes recurred during each of 2 pregnancies... | PAROTITIS, JUVENILE RECURRENT | c1863691 | 1,206 | omim | https://www.omim.org/entry/603588 | 2019-09-22T16:12:50 | {"mesh": ["C566359"], "omim": ["603588"]} |
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Find sources: "Microcoria" – news · newspapers · books · scholar · JSTOR (December 2009) (Learn how and when to remove this template m... | Microcoria | c1303009 | 1,207 | wikipedia | https://en.wikipedia.org/wiki/Microcoria | 2021-01-18T18:38:29 | {"gard": ["3635"], "mesh": ["C537550"], "umls": ["C1303009"], "orphanet": ["566"], "wikidata": ["Q720101"]} |
Protein–energy malnutrition
Other namesProtein–calorie malnutrition, PEM, PCM
SpecialtyEndocrinology
Protein–energy malnutrition (PEM), sometimes called protein-energy undernutrition (PEU), is a form of malnutrition that is defined as a range of pathological conditions arising from coincident lack of die... | Protein–energy malnutrition | c0033677 | 1,208 | wikipedia | https://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition | 2021-01-18T18:51:12 | {"mesh": ["D011502"], "umls": ["C0033677"], "wikidata": ["Q4082071"]} |
Morahan et al. (1996) mapped an insulin-dependent diabetes mellitus gene, designated IDDM13, to chromosome 2q34 on the basis of analysis of 98 affected sib pairs. The maximum lod score with D2S164 was 3.345. Using the MAP-MAKER/Sibs program, which allows multipoint linkage analysis to be performed on data collect... | DIABETES MELLITUS, INSULIN-DEPENDENT, 13 | c1832474 | 1,209 | omim | https://www.omim.org/entry/601318 | 2019-09-22T16:15:11 | {"mesh": ["C563352"], "omim": ["601318"], "synonyms": ["Alternative titles", "INSULIN-DEPENDENT DIABETES MELLITUS 13"]} |
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
## Epidemiology
Atelosteogenesis I (AOI) is a very rare infrequently described disorder.
## Clinical description
Affected neona... | Atelosteogenesis type I | c0265283 | 1,210 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1190 | 2021-01-23T18:39:19 | {"gard": ["9287"], "mesh": ["C535396"], "omim": ["108720"], "umls": ["C0265283"], "icd-10": ["Q78.8"], "synonyms": ["AO1", "AOI", "Atelosteogenesis type 1", "Giant cell chondrodysplasia", "Spondylo-humero-femoral dysplasia"]} |
For a phenotypic description of gout and a discussion of genetic heterogeneity of serum uric acid concentration quantitative trait loci, see UAQTL1 (138900).
Mapping
Sulem et al. (2011) tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric aci... | URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 6 | c3553635 | 1,211 | omim | https://www.omim.org/entry/614747 | 2019-09-22T15:54:19 | {"omim": ["614747"]} |
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. (January 2018)
Allomnesia or memory illusion is a memory disorder, which involves distorted memories of a past situation. It is generally a physiological ... | Allomnesia | None | 1,212 | wikipedia | https://en.wikipedia.org/wiki/Allomnesia | 2021-01-18T18:35:16 | {"icd-9": ["780.93"], "icd-10": ["R41.3"], "wikidata": ["Q3612627"]} |
See Immune Response to Synthetic Polypeptide--IRPHEGAL (146810) and Chan et al. (1984).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhi... | IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT | c1840267 | 1,213 | omim | https://www.omim.org/entry/146820 | 2019-09-22T16:39:37 | {"omim": ["146820"]} |
Congenital hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone produced by the beta cells of the pancreas that helps control blood sugar levels. Because of the high levels of insulin, people with this disease have frequent episodes of low blood sugar (hypoglycemia) that can even ... | Congenital hyperinsulinism | c3888018 | 1,214 | gard | https://rarediseases.info.nih.gov/diseases/3947/congenital-hyperinsulinism | 2021-01-18T18:01:09 | {"mesh": ["D044903"], "orphanet": ["657"], "synonyms": ["Persistent hyperinsulinemic hypoglycemia of infancy", "PHHI", "Hyperinsulinemic hypoglycemia familial", "Hypoglycemia hyperinsulinemic of infancy", "Hyperinsulinism familial with pancreatic nesidioblastosis", "Nesidioblastosis of pancreas", "Hyperinsulinism conge... |
For a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 (145600).
Mapping
In 3 unrelated families, Levitt et al. (1991) excluded linkage of the MHS phenotype to loci on 19q13.1, thus indicating genetic heterogeneity. Levitt et al. (1992) extended these studies to 1... | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 | c0024591 | 1,215 | omim | https://www.omim.org/entry/154275 | 2019-09-22T16:38:34 | {"mesh": ["D008305"], "omim": ["154275"], "orphanet": ["423"], "synonyms": ["Alternative titles", "MHS2"], "genereviews": ["NBK1146"]} |
A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus er... | Lupus erythematosus tumidus | c0406636 | 1,216 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90283 | 2021-01-23T17:37:24 | {"gard": ["13003"], "umls": ["C0406636"], "icd-10": ["L93.2"], "synonyms": ["Intermittent cutaneous lupus"]} |
## Description
Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of th... | EBSTEIN ANOMALY | c0013481 | 1,217 | omim | https://www.omim.org/entry/224700 | 2019-09-22T16:28:28 | {"doid": ["14289"], "mesh": ["D004437"], "omim": ["224700"], "icd-9": ["746.2"], "icd-10": ["Q22.5"], "orphanet": ["1880"]} |
## Clinical Features
Arias et al. (1976) described a seemingly new form of skeletal dysplasia among the Irapa Indians of Venezuela. Features included short spine from platyspondyly, short metacarpals and metatarsals, and striking changes in the proximal femoral and distal humeral epiphyses.
Hernandez et al. (1980)... | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE | c0432213 | 1,218 | omim | https://www.omim.org/entry/271650 | 2019-09-22T16:22:02 | {"mesh": ["C562958"], "omim": ["271650"], "orphanet": ["93351"]} |
Remnants of the pupillary membrane persist as strands and other irregular tissue in the region of the pupil. Cassady and Light (1957) described a family in which 11 persons in 4 generations showed remnants of the pupillary membrane. Four of these also had congenital cataract and 3 had increased corneal diameter. Poss... | PUPILLARY MEMBRANE, PERSISTENCE OF | c0271130 | 1,219 | omim | https://www.omim.org/entry/178900 | 2019-09-22T16:35:22 | {"mesh": ["C562700"], "omim": ["178900"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-30 (EIEE30) is caused by heterozygous mutation in the SIK1 gene (605705) on chromosome 21q22.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see 308350.
Clinical Featu... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 | c0270855 | 1,220 | omim | https://www.omim.org/entry/616341 | 2019-09-22T15:49:11 | {"doid": ["0080465"], "mesh": ["C562695"], "omim": ["616341"], "orphanet": ["1935", "3451", "1934"]} |
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain... | Medium-chain acyl-coenzyme A dehydrogenase deficiency | c0220710 | 1,221 | gard | https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency | 2021-01-18T17:59:12 | {"mesh": ["C536038"], "omim": ["201450"], "umls": ["C0220710"], "orphanet": ["42"], "synonyms": ["MCAD deficiency", "Acyl-CoA dehydrogenase medium chain deficiency of", "MCADH deficiency", "ACADM deficiency", "MCADD", "Medium chain acyl CoA dehydrogenase deficiency", "Medium-chain acyl-CoA dehydrogenase deficiency"]} |
## Summary
The purpose of this overview is to increase the awareness of clinicians regarding the causes of Bardet-Biedl syndrome and related genetic counseling issues.
The following are the goals of this overview:
### Goal 1.
Describe the clinical characteristics of Bardet-Biedl syndrome.
### Goal 2.
Review the... | Bardet-Biedl Syndrome Overview | None | 1,222 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1363/ | 2021-01-18T21:40:16 | {"synonyms": []} |
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Find sources: "Sesamoiditis" – news · newspapers · books · scholar · JSTOR (January 2015) (Learn how and when to remove this template ... | Sesamoiditis | c0264076 | 1,223 | wikipedia | https://en.wikipedia.org/wiki/Sesamoiditis | 2021-01-18T18:54:12 | {"icd-9": ["733.99"], "icd-10": ["M89.37"], "wikidata": ["Q4411017"]} |
Noncompaction cardiomyopathy
Other namesSpongiform cardiomyopathy
Noncompaction cardiomyopathy is inherited in an autosomal dominant manner
SpecialtyCardiology
Non-compaction cardiomyopathy (NCC), is a rare congenital cardiomyopathy that affects both children and adults.[1] It results from the failure ... | Noncompaction cardiomyopathy | c1858725 | 1,224 | wikipedia | https://en.wikipedia.org/wiki/Noncompaction_cardiomyopathy | 2021-01-18T18:42:20 | {"gard": ["10985"], "mesh": ["C565821", "D056830"], "umls": ["C1858725"], "icd-10": ["I42.8"], "orphanet": ["54260"], "wikidata": ["Q1725245"]} |
Aase syndrome
Other namesHydrocephalus-cleft palate-joint contractures syndrome, Aase-Smith syndrome
Aase syndrome or Aase–Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal dominant inherited disorder.[1... | Aase syndrome | c0220686 | 1,225 | wikipedia | https://en.wikipedia.org/wiki/Aase_syndrome | 2021-01-18T18:45:28 | {"gard": ["5642"], "mesh": ["C535332"], "umls": ["C0220686"], "orphanet": ["916"], "wikidata": ["Q303400"]} |
A number sign (#) is used with this entry because of evidence that isolated microphthalmia-4 (MCOP4) is caused by mutation in the GDF6 gene (601147) on chromosome 8q22.
For a phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).
Molecular Genetics
Asai... | MICROPHTHALMIA, ISOLATED 4 | c2751307 | 1,226 | omim | https://www.omim.org/entry/613094 | 2019-09-22T15:59:41 | {"doid": ["0060836"], "mesh": ["C567757"], "omim": ["613094", "251600"], "orphanet": ["2542"], "synonyms": ["Isolated anophthalmia-microphthalmia syndrome", "MAC spectrum", "Microphthalmia-anophthalmia-coloboma spectrum"], "genereviews": ["NBK1378"]} |
Maroteaux et al. (1978) proposed this term for a type of oligosaccharidosis in which a glomerular nephropathy develops early and causes death at a young age. The clinical and radiologic features are dysmorphic facies, visceral storage disease, early and severe mental retardation, and skeletal abnormalities of a type ... | NEPHROSIALIDOSIS | c0268228 | 1,227 | omim | https://www.omim.org/entry/256150 | 2019-09-22T16:24:25 | {"mesh": ["C537366"], "omim": ["256150"], "orphanet": ["87876"]} |
Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.
People with NOMID have a skin rash that is usually present from birth... | Neonatal onset multisystem inflammatory disease | c0409818 | 1,228 | medlineplus | https://medlineplus.gov/genetics/condition/neonatal-onset-multisystem-inflammatory-disease/ | 2021-01-27T08:25:08 | {"gard": ["1356"], "mesh": ["D056587"], "omim": ["607115"], "synonyms": []} |
Jejunal atresia is a birth defect in a newborn characterized by partial or complete absence of the membrane connecting the small intestines to the abdominal wall (the mesentery). It causes a portion of the small intestines (the jejunum) to twist around an artery that supplies blood to the colon (the marginal artery).... | Jejunal atresia | c0266175 | 1,229 | gard | https://rarediseases.info.nih.gov/diseases/6799/jejunal-atresia | 2021-01-18T17:59:41 | {"mesh": ["D007409"], "omim": ["243600"], "synonyms": ["Apple peel syndrome", "Apple peel small bowel syndrome", "APSB", "Apple-peel intestinal atresia", "Familial apple peel jejunal atresia", "Atresia of small intestine", "Intestinal atresia type IIIb", "Jejunoileal atresia", "Small intestinal atresia"]} |
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
## Epidemiology
The exact prevalence is unknown but a preval... | Prolidase deficiency | c0268532 | 1,230 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=742 | 2021-01-23T17:21:11 | {"gard": ["7473"], "mesh": ["D056732"], "omim": ["170100"], "umls": ["C0268532", "C1534653"], "icd-10": ["E72.8"], "synonyms": ["Hyperimidodipeptiduria"]} |
## Summary
### Clinical characteristics.
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affec... | Autosomal Dominant TRPV4 Disorders | None | 1,231 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK201366/ | 2021-01-18T21:41:27 | {"synonyms": []} |
A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: ... | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | c4540131 | 1,232 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=529965 | 2021-01-23T17:41:43 | {"omim": ["617682"], "synonyms": ["Pilarowski-Bjornsson syndrome"]} |
## Summary
### Clinical characteristics.
Dysferlinopathy includes a spectrum of muscle disease characterized by two main phenotypes: Miyoshi myopathy with primarily distal weakness and limb-girdle muscular dystrophy type 2B (LGMD2B) with primarily proximal weakness. Miyoshi myopathy (median age of onset 19 years) i... | Dysferlinopathy | c2931687 | 1,233 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1303/ | 2021-01-18T21:29:54 | {"mesh": ["C537995"], "synonyms": []} |
## Description
Otosclerosis is a hearing disorder that is associated with disordered bone remodeling in the otic capsule. The bone remodeling can result in conductive, mixed, or sensorineural hearing loss as a result of stapes footplate fixation or cochlear involvement (summary by Schrauwen et al., 2011).
Clinical... | OTOSCLEROSIS 10 | c3888339 | 1,234 | omim | https://www.omim.org/entry/615589 | 2019-09-22T15:51:33 | {"omim": ["615589"]} |
Form of dysgammaglobulinemia
IgG deficiency
Other namesSelective deficiency of immunoglobulin G
Immunoglobulin G
SpecialtyHematology
IgG deficiency is a form of dysgammaglobulinemia where the proportional levels of the IgG isotype are reduced relative to other immunoglobulin isotypes. IgG deficiency is of... | IgG deficiency | c0162539 | 1,235 | wikipedia | https://en.wikipedia.org/wiki/IgG_deficiency | 2021-01-18T18:46:20 | {"gard": ["10371"], "mesh": ["D017099"], "umls": ["C0162539"], "wikidata": ["Q17094243"]} |
A number sign (#) is used with this entry because of evidence that multiple epiphyseal dysplasia-3 (EDM3) is caused by heterozygous mutation in the COL9A3 gene (120270) on chromosome 20q13.
Description
Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/... | EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 | c1832998 | 1,236 | omim | https://www.omim.org/entry/600969 | 2019-09-22T16:15:40 | {"doid": ["0070304"], "mesh": ["C535503"], "omim": ["600969"], "orphanet": ["166002"], "synonyms": [], "genereviews": ["NBK1123"]} |
A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is ... | Bullous pemphigoid | c0030805 | 1,237 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=703 | 2021-01-23T18:27:37 | {"gard": ["5972"], "mesh": ["D010391"], "umls": ["C0030805"], "icd-10": ["L12.0"]} |
## Description
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal ... | VESICOURETERAL REFLUX 1 | c4551858 | 1,238 | omim | https://www.omim.org/entry/193000 | 2019-09-22T16:32:00 | {"doid": ["9620"], "mesh": ["D014718"], "omim": ["193000"], "orphanet": ["289365"], "synonyms": ["VUR", "Alternative titles", "Familial VUR"]} |
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common featu... | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | c3281160 | 1,239 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300179 | 2021-01-23T18:53:50 | {"omim": ["614557"], "icd-10": ["Q79.6"], "synonyms": ["Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness", "Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss", "FKBP14-related EDS", "FKBP22-deficient EDS", "Kyphoscoliotic EDS due to FKBP22 deficiency", "kEDS-FKBP14"]} |
A number sign (#) is used with this entry because hemoglobin H disease is caused by contiguous gene deletion of the hemoglobin alpha-1 (HBA1; 141800) and alpha-2 (HBA2; 141850) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.
Description
Hemoglobin H diseas... | HEMOGLOBIN H DISEASE | c1260396 | 1,240 | omim | https://www.omim.org/entry/613978 | 2019-09-22T15:56:53 | {"doid": ["0110031"], "omim": ["613978"], "orphanet": ["93616"], "synonyms": ["Alternative titles", "ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE", "HEMOGLOBIN H DISEASE, DELETIONAL"]} |
A rare group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.
## Epidemiology
The exact prevalence and birth incidence of ACS syndromes are not known. Overall incidence of all forms of craniosyn... | Acrocephalosyndactyly | c1510455 | 1,241 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=946 | 2021-01-23T18:46:03 | {"mesh": ["D000168"], "umls": ["C1510455"], "icd-10": ["Q87.0"], "synonyms": ["ACS", "Acrocephalosyndactylia"]} |
Amnion nodosum are nodules found on the amnion, and is frequently present in oligohydramnios.[1] The nodules are composed of squamous cell aggregates derived from the vernix caseosa on the fetal skin. Amnion nodosum is caused by the unexpected abrasion of amnion with depositions of the fetal surface cells and acellul... | Amnion nodosum | c0269802 | 1,242 | wikipedia | https://en.wikipedia.org/wiki/Amnion_nodosum | 2021-01-18T18:29:53 | {"umls": ["C0269802"], "icd-9": ["658.8"], "wikidata": ["Q4747401"]} |
Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. ... | Ring chromosome 13 syndrome | c2931808 | 1,243 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96176 | 2021-01-23T17:10:27 | {"gard": ["6069"], "mesh": ["C538303"], "umls": ["C2931808"], "icd-10": ["Q93.2"], "synonyms": ["Ring 13", "Ring chromosome 13"]} |
A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.
*[v]: View t... | Autosomal dominant spastic paraplegia type 36 | c2936879 | 1,244 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=320365 | 2021-01-23T17:03:28 | {"mesh": ["C567930"], "omim": ["613096"], "umls": ["C2936879"], "icd-10": ["G11.4"], "synonyms": ["SPG36"]} |
Mastocytosis occurs when too many mast cells accumulate in the skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. Mast cells are a type of white blood cell in the immune system. Mast cells are responsible for protecting the body from infection and releasing chemicals to create i... | Mastocytosis | c0024899 | 1,245 | gard | https://rarediseases.info.nih.gov/diseases/6987/mastocytosis | 2021-01-18T17:59:14 | {"mesh": ["D008415"], "omim": ["154800"], "orphanet": ["98292"], "synonyms": ["Mast cell disease"]} |
Synesthesia that associates numbers or letters with colors
How someone with grapheme–color synesthesia might perceive (not "see") certain letters and numbers
Grapheme–color synaesthesia or colored grapheme synesthesia is a form of synesthesia in which an individual's perception of numerals and letters is associated... | Grapheme–color synesthesia | None | 1,246 | wikipedia | https://en.wikipedia.org/wiki/Grapheme%E2%80%93color_synesthesia | 2021-01-18T18:43:47 | {"wikidata": ["Q287285"]} |
Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.
*[v]: View this template
*[t]: Discuss th... | Congenital respiratory-biliary fistula | None | 1,247 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2040 | 2021-01-23T17:00:32 | {"gard": ["1475"], "icd-10": ["Q32.4"]} |
A number sign (#) is used with this entry because neurofibromatosis type II (NF2) is caused by heterozygous mutation in the gene encoding neurofibromin-2 (NF2; 607379), which is also called merlin, on chromosome 22q12.
Description
The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multi... | NEUROFIBROMATOSIS, TYPE II | c0027832 | 1,248 | omim | https://www.omim.org/entry/101000 | 2019-09-22T16:45:31 | {"doid": ["0111252"], "mesh": ["D016518"], "omim": ["101000"], "icd-9": ["237.72"], "icd-10": ["Q85.02"], "orphanet": ["637"], "synonyms": ["Alternative titles", "NEUROFIBROMATOSIS, CENTRAL TYPE", "ACOUSTIC SCHWANNOMAS, BILATERAL", "BILATERAL ACOUSTIC NEUROFIBROMATOSIS", "ACOUSTIC NEURINOMA, BILATERAL"], "genereviews":... |
A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
## Epidemiology
Acral PSS is rare, with approximately 40 cases described in the literature to date.
## Clinical description
The disease manifests shortly after birth or in early c... | Acral peeling skin syndrome | c1853354 | 1,249 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263534 | 2021-01-23T18:49:05 | {"gard": ["12863"], "mesh": ["C536316"], "omim": ["609796"], "umls": ["C1853354"], "icd-10": ["Q80.8"], "synonyms": ["Acral PSS", "Acral deciduous skin", "Localized PSS", "Localized deciduous skin"]} |
## Clinical Features
Crome and Williams (1960) observed multilocular encephalomalacia in an infant who died at 1 month of age. A sib was living at age 6 years but may have had the same abnormality manifested by microcephaly, spastic diplegia, and mental retardation. It is not certain that this is a distinct entity.... | ENCEPHALOMALACIA, MULTILOCULAR | c1856991 | 1,250 | omim | https://www.omim.org/entry/225700 | 2019-09-22T16:28:21 | {"mesh": ["C565597"], "omim": ["225700"]} |
Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-on... | Citrullinemia type I | c0751751 | 1,251 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247525 | 2021-01-23T17:43:33 | {"mesh": ["D020159"], "omim": ["215700"], "umls": ["C0751751"], "icd-10": ["E72.2"], "synonyms": ["ASS deficiency", "Argininosuccinate synthase deficiency", "Argininosuccinate synthetase deficiency", "Argininosuccinic acid synthase deficiency", "Argininosuccinic acid synthetase deficiency", "CTLN1", "Citrullinemia type... |
Huang et al. (1999) described a brother and sister, in a sibship of 4, with multiple congenital anomalies, including Hirschsprung disease. The boy was born with bilateral complete cleft lip and palate, telecanthus, duplication of the great toes, and postaxial polydactyly of the right foot. Echocardiogram showed atria... | HIRSCHSPRUNG DISEASE WITH HEART DEFECTS, LARYNGEAL ANOMALIES, AND PREAXIAL POLYDACTYLY | c1858696 | 1,252 | omim | https://www.omim.org/entry/604211 | 2019-09-22T16:12:27 | {"mesh": ["C565817"], "omim": ["604211"]} |
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen... | Leber congenital amaurosis | c2931258 | 1,253 | medlineplus | https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/ | 2021-01-27T08:25:08 | {"gard": ["634"], "mesh": ["C536600"], "omim": ["204000", "611755", "610612", "612712", "613341", "204100", "604232", "604393", "604537", "608553"], "synonyms": []} |
Not to be confused with Pneumococcal pneumonia.
Pneumocystis pneumonia
Other namesPneumocystis jirovecii pneumonia, pneumocystis carinii pneumonia
Pneumocystis jirovecii cysts from bronchoalveolar lavage, stained with Toluidine blue O stain
SpecialtyInfectious disease, Pulmonology
CausesPneumocystis jiroveci... | Pneumocystis pneumonia | c1535939 | 1,254 | wikipedia | https://en.wikipedia.org/wiki/Pneumocystis_pneumonia | 2021-01-18T18:43:20 | {"mesh": ["D011020"], "wikidata": ["Q15401586"]} |
Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occu... | Chromosome 6p duplication | c2931621 | 1,255 | gard | https://rarediseases.info.nih.gov/diseases/5352/chromosome-6p-duplication | 2021-01-18T18:01:20 | {"mesh": ["C537811"], "umls": ["C2931621"], "synonyms": ["Duplication 6p", "Trisomy 6p", "6p duplication", "6p trisomy", "Partial trisomy 6p"]} |
A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intr... | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | None | 1,256 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268261 | 2021-01-23T19:09:55 | {"icd-10": ["Q93.5"], "synonyms": ["21q22.13q22.2 microdeletion syndrome", "Del(21)(q22.13q22.2)", "Monosomy 21q22.13q22.2"]} |
Prothrombin G20210A
Other namesProthrombin thrombophilia,[1] factor II mutation, prothrombin mutation, rs1799963, factor II G20210A
SymptomsBlood clots[1]
Frequency2% (Caucasians)[1]
Prothrombin G20210A is a genetic condition that increases the risk of blood clots including from deep vein thrombosis, and o... | Prothrombin G20210A | c2584409 | 1,257 | wikipedia | https://en.wikipedia.org/wiki/Prothrombin_G20210A | 2021-01-18T18:35:24 | {"umls": ["C2584409"], "wikidata": ["Q2113626"]} |
Medical condition
A flail limb (also flail arm or flail leg) is a medical term which refers to an extremity in which the primary nerve has been severed or ceased to function, resulting in complete lack of mobility and sensation. Although blood typically continues to flow through the limb, it is completely useles... | Flail limb | c0231446 | 1,258 | wikipedia | https://en.wikipedia.org/wiki/Flail_limb | 2021-01-18T18:32:04 | {"umls": ["C0231446"], "wikidata": ["Q5457051"]} |
Pressure of speech
Other namesPressured speech
SpecialtyPsychiatry
Pressure of speech is a tendency to speak rapidly and frenziedly. Pressured speech is motivated by an urgency that may not be apparent to the listener. The speech produced is difficult to interrupt.
Such speech may be too fast, erratic, ... | Pressure of speech | c0233718 | 1,259 | wikipedia | https://en.wikipedia.org/wiki/Pressure_of_speech | 2021-01-18T18:29:17 | {"umls": ["C0233718"], "wikidata": ["Q7241734"]} |
A number sign (#) is used with this entry because Wolff-Parkinson-White syndrome can be caused by mutation in the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2; 602743).
Mutation in the PRKAG2 gene can also cause a form of hypertrophic cardiomyopathy in which some patients exhibit WPW (CMH6;... | WOLFF-PARKINSON-WHITE SYNDROME | c0043202 | 1,260 | omim | https://www.omim.org/entry/194200 | 2019-09-22T16:31:45 | {"doid": ["384"], "mesh": ["D014927"], "omim": ["194200"], "icd-10": ["I45.6"], "synonyms": ["Alternative titles", "WPW SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that metatropic dysplasia is caused by heterozygous mutation in the TRPV4 gene (605427) on chromosome 12q24.1.
Description
Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscolios... | METATROPIC DYSPLASIA | c0265281 | 1,261 | omim | https://www.omim.org/entry/156530 | 2019-09-22T16:38:15 | {"mesh": ["C537356"], "omim": ["156530"], "orphanet": ["2635"], "synonyms": ["Alternative titles", "METATROPIC DWARFISM"], "genereviews": ["NBK201366"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Hemotympanum" – news · newspapers · books · scholar · JSTOR (June 2020) (Learn how and when to remove this template message)
Tympani... | Hemotympanum | c0019125 | 1,262 | wikipedia | https://en.wikipedia.org/wiki/Hemotympanum | 2021-01-18T19:04:06 | {"umls": ["C0019125"], "wikidata": ["Q1642058"]} |
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.
## Epidemiology
Prevalence and incidence rate... | Intellectual disability-developmental delay-contractures syndrome | c0796200 | 1,263 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3454 | 2021-01-23T18:11:00 | {"gard": ["7890"], "mesh": ["C536703"], "omim": ["314580"], "umls": ["C0796200"], "icd-10": ["G71.8"], "synonyms": ["Foot contractures-muscle atrophy-oculomotor apraxia syndrome", "Wieacker-Wolff syndrome"]} |
North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada.[1] The disease is due to an autosomal recessive abnormality of the CIRH1A gene, which codes for cirhin.[2]
NAIC is a ribosomopathy.[3][4] An R565W mutation of CIRH1A[2][5] lea... | North American Indian childhood cirrhosis | c1858051 | 1,264 | wikipedia | https://en.wikipedia.org/wiki/North_American_Indian_childhood_cirrhosis | 2021-01-18T19:01:25 | {"mesh": ["C565737"], "umls": ["C1858051"], "orphanet": ["168583"], "wikidata": ["Q25324164"]} |
A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
## Epidemiology
Exact prevalence of NAGA deficiency is unknown but fewer than 20 cases have been reported to date in patients of German, Dutch, Spanish, Japanese, French and Mor... | Alpha-N-acetylgalactosaminidase deficiency | c1836544 | 1,265 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3137 | 2021-01-23T18:30:09 | {"mesh": ["C536631"], "omim": ["609241", "609242"], "umls": ["C0342850", "C1836544"], "icd-10": ["E77.1"], "synonyms": ["NAGA deficiency", "Schindler disease"]} |
A number sign (#) is used with this entry because of evidence that cranioectodermal dysplasia-4 (CED4) is caused by compound heterozygous mutation in the WDR19 gene (608151) on chromosome 4p14. One such family has been reported.
Description
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is ... | CRANIOECTODERMAL DYSPLASIA 4 | c0432235 | 1,266 | omim | https://www.omim.org/entry/614378 | 2019-09-22T15:55:28 | {"doid": ["0080033"], "mesh": ["C562966"], "omim": ["614378"], "orphanet": ["1515"], "genereviews": ["NBK154653"]} |
Large, right lower lobe pneumatocele is shown, compromising ventilation in a premature infant with RDS and superimposed RSV pneumonitis.
A pneumatocele is a cavity in the lung parenchyma filled with air that may result from pulmonary trauma during mechanical ventilation.[1]
Gas-filled, or air-filled lesions in bone... | Pneumatocele | c0333160 | 1,267 | wikipedia | https://en.wikipedia.org/wiki/Pneumatocele | 2021-01-18T19:01:47 | {"umls": ["C0333160"], "icd-10": ["G93.88"], "wikidata": ["Q7205984"]} |
Thousand cankers disease
A walnut tree in Denver, Colorado affected by Thousand cankers disease.
Common namesTCD
Causal agentsGeosmithia morbida
HostsWalnut trees (Juglans sp.)
Vectorswalnut twig beetle (Pityophthorus juglandis)
EPPO CodeGEOHMO
Thousand cankers disease (TCD) is a recently r... | Thousand cankers disease | None | 1,268 | wikipedia | https://en.wikipedia.org/wiki/Thousand_cankers_disease | 2021-01-18T18:55:43 | {"wikidata": ["Q17119323"]} |
Megacystis (fetal)
SpecialtyUrology
Fetal megacystis[1] is a rare disease that is identified by an abnormally large or distended bladder.
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Cause[edit]
Megacystis is associated with Berdon syndrome... | Megacystis (fetal) | c1855311 | 1,269 | wikipedia | https://en.wikipedia.org/wiki/Megacystis_(fetal) | 2021-01-18T18:35:42 | {"mesh": ["C536139"], "umls": ["C1855311"], "wikidata": ["Q6808346"]} |
A number sign (#) is used with this entry because of evidence that osteogenesis imperfecta type VI (OI6) is caused by homozygous mutation in the SERPINF1 gene (172860) on chromosome 17p13.3.
Description
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and... | OSTEOGENESIS IMPERFECTA, TYPE VI | c0268362 | 1,270 | omim | https://www.omim.org/entry/613982 | 2019-09-22T15:56:57 | {"doid": ["0110350"], "mesh": ["C536044"], "omim": ["613982"], "orphanet": ["216812", "216820", "666"]} |
X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. The abnormal eye movements may worsen wh... | X-linked infantile nystagmus | c1839580 | 1,271 | medlineplus | https://medlineplus.gov/genetics/condition/x-linked-infantile-nystagmus/ | 2021-01-27T08:25:15 | {"gard": ["2969"], "mesh": ["C537853"], "omim": ["310700"], "synonyms": []} |
Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionall... | Constitutional mismatch repair deficiency syndrome | c0265325 | 1,272 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252202 | 2021-01-23T17:30:31 | {"mesh": ["C536928"], "omim": ["276300"], "synonyms": ["CMMR-D syndrome"]} |
Nutcracker syndrome
Other namesNutcracker phenomenon, renal vein entrapment syndrome, mesoaortic compression of the left renal vein
The nutcracker syndrome results from compression of the left renal vein between the aorta and the superior mesenteric artery.
The nutcracker syndrome (NCS) results most commonly... | Nutcracker syndrome | c3178770 | 1,273 | wikipedia | https://en.wikipedia.org/wiki/Nutcracker_syndrome | 2021-01-18T18:32:30 | {"gard": ["11971"], "mesh": ["D059228"], "umls": ["C3178770"], "orphanet": ["71273"], "wikidata": ["Q1504516"]} |
A number sign (#) is used with this entry because of evidence that band heterotopia (BH) is caused by homozygous or compound heterozygous mutation in the EML1 gene (602033) on chromosome 14q32.
Clinical Features
Kielar et al. (2014) reported a French family in which 3 brothers had severe developmental delay wit... | BAND HETEROTOPIA | c1848201 | 1,274 | omim | https://www.omim.org/entry/600348 | 2019-09-22T16:16:16 | {"doid": ["0111169"], "mesh": ["D054221"], "omim": ["600348"], "orphanet": ["99796"]} |
A rare urogenital tumor characterized by stromal and epithelial components forming cysts lined by hyperplastic epithelium in a cellular or sarcomatoid stroma. The tumors may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone, and liver. Patients may ... | Phyllodes tumor of the prostate | c1334615 | 1,275 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=498228 | 2021-01-23T17:08:32 | {"mesh": ["C549759"], "synonyms": ["Cystic epithelial-stromal tumors of the prostate", "Cystosarcoma phyllodes of the prostate", "Phyllodes type of atypical prostatic hyperplasia"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant congenital deafness with onychodystrophy (DDOD) is caused by heterozygous mutation in the ATP6V1B2 gene (606939) on chromosome 8p21.
Description
The DDOD syndrome is characterized by autosomal dominant inheritance of congenital de... | DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT | c2675730 | 1,276 | omim | https://www.omim.org/entry/124480 | 2019-09-22T16:42:34 | {"mesh": ["C567274"], "omim": ["124480"], "orphanet": ["3231", "79499"], "synonyms": ["DDOD SYNDROME", "Alternative titles"]} |
Keratosis follicularis spinulosa decalvans
Other namesSiemens-1 syndrome
Keratosis follicularis spinulosa decalvans is a rare X-linked disorder described by Siemens in 1926, a disease that begins in infancy with keratosis pilaris localized on the face, then evolves to more diffuse involvement.[1]:580,762[2]:64... | Keratosis follicularis spinulosa decalvans | c0343057 | 1,277 | wikipedia | https://en.wikipedia.org/wiki/Keratosis_follicularis_spinulosa_decalvans | 2021-01-18T18:29:38 | {"gard": ["6829"], "mesh": ["C536159"], "umls": ["C0343057"], "orphanet": ["2340"], "wikidata": ["Q6393653"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline... | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome | c4225274 | 1,278 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=453499 | 2021-01-23T18:08:23 | {"omim": ["616580"], "synonyms": ["Au-Kline syndrome"]} |
Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.
## Epidemiology
The syndrome was described in two... | Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome | c3267187 | 1,279 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171839 | 2021-01-23T19:01:21 | {"umls": ["C3267187"], "icd-10": ["Q87.8"], "synonyms": ["Berant syndrome", "Capra-DeMarco syndrome", "Familial scaphocephaly-radioulnar synostosis syndrome"]} |
Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms).
## Clinical description
Characteristic clinical features include slow growth, bone pai... | Hypocalcemic rickets | c4302195 | 1,280 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289103 | 2021-01-23T17:17:01 | {} |
## Description
Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by Cloninger et al. (1993) to measure 4 distinct domains of temperament--novelty seeking, harm... | NOVELTY SEEKING PERSONALITY TRAIT | c1866430 | 1,281 | omim | https://www.omim.org/entry/601696 | 2019-09-22T16:14:25 | {"omim": ["601696"]} |
Germ-cell tumor
Micrograph of a seminoma, a common germ cell tumor.
SpecialtyOncology
Germ cell tumor (GCT) is a neoplasm derived from germ cells. Germ-cell tumors can be cancerous or benign. Germ cells normally occur inside the gonads (ovary[1] and testis). GCTs that originate outside the gonads may be birt... | Germ cell tumor | c0205851 | 1,282 | wikipedia | https://en.wikipedia.org/wiki/Germ_cell_tumor | 2021-01-18T18:49:27 | {"mesh": ["D009373"], "umls": ["C0205851"], "icd-9": ["183", "220", "186", "222.0"], "icd-10": ["C62", "C56", "D27", "D29.2"], "orphanet": ["3399"], "wikidata": ["Q1737977"]} |
Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]:... | Okamoto syndrome | c1858043 | 1,283 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2729 | 2021-01-23T18:13:07 | {"gard": ["4064"], "mesh": ["C565736"], "omim": ["604916"], "icd-10": ["Q87.8"]} |
"Miner's lung" redirects here. For the book, see Miners' Lung (book).
Pneumoconiosis
Micrograph of asbestosis (with ferruginous bodies), a type of pneumoconiosis. H&E stain.
SpecialtyPulmonology
Pneumoconiosis is the general term for a class of interstitial lung diseases where inhalation of dust has caused ... | Pneumoconiosis | c0032273 | 1,284 | wikipedia | https://en.wikipedia.org/wiki/Pneumoconiosis | 2021-01-18T18:55:03 | {"mesh": ["D011009"], "umls": ["C0032273"], "orphanet": ["182098"], "wikidata": ["Q651223"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
By analyzing a sample of 1,816 individuals from 79 pedigrees, Liu et al. (2004) found linkage evidence suggesting a quantitative trait locus underlying height on chromosome 9q22.32 (maximum mul... | STATURE QUANTITATIVE TRAIT LOCUS 8 | c1864691 | 1,285 | omim | https://www.omim.org/entry/610114 | 2019-09-22T16:05:12 | {"omim": ["610114"]} |
Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectr... | Charlie M syndrome | c4518555 | 1,286 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1406 | 2021-01-23T18:07:08 | {"gard": ["1261"], "icd-10": ["Q87.0"]} |
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Find sources: "Depigmentation" – news · newspapers · books · scholar · JSTOR (December 2006) (Learn how and when to remove this templa... | Depigmentation | c0162835 | 1,287 | wikipedia | https://en.wikipedia.org/wiki/Depigmentation | 2021-01-18T18:40:52 | {"mesh": ["D017496"], "wikidata": ["Q3705665"]} |
Cylindroma
SpecialtyOncology, dermatology
A variant of eccrine spiradenoma which can be multiple on the scalp and can coalesce to form a 'Turban' tumour. In pathology, a cylindroma is a tumour with nests of cells that resemble a cylinder in cross section.
Types include:
* Dermal eccrine cylindroma, a b... | Cylindroma | c1305968 | 1,288 | wikipedia | https://en.wikipedia.org/wiki/Cylindroma | 2021-01-18T18:51:49 | {"gard": ["12346"], "mesh": ["C536611"], "umls": ["C1305968"], "icd-10": ["D23"], "wikidata": ["Q245711"]} |
Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of... | Spondyloepiphyseal dysplasia | c0038015 | 1,289 | gard | https://rarediseases.info.nih.gov/diseases/7687/spondyloepiphyseal-dysplasia | 2021-01-18T17:57:32 | {"mesh": ["D010009"], "orphanet": ["253"], "synonyms": []} |
## Description
An X-linked recessive inhibitor (XS) of the Lutheran blood group system (111200) has been reported.
For a discussion of Lutheran blood group phenotypes, see 247420.
Clinical Features
Norman et al. (1985, 1986) studied a family in which 5 males showed the Lu(a-b-) phenotype. The red cells of these ... | LUTHERAN SUPPRESSOR, X-LINKED | c3887995 | 1,290 | omim | https://www.omim.org/entry/309050 | 2019-09-22T16:18:15 | {"omim": ["309050"], "synonyms": ["Alternative titles", "LUXS"]} |
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number ... | Postaxial polydactyly type A | c3887487 | 1,291 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93334 | 2021-01-23T17:02:19 | {"mesh": ["C562429"], "omim": ["174200", "263450", "602085", "607324", "608562", "615226", "618219", "618498"], "umls": ["C3887487"], "icd-10": ["Q69.0"]} |
Stercoral perforation
Play media
Axial CT cine clip showing loculated fluid, free intraperitoneal fluid, extraluminal gas, and focal discontinuity of the wall of the sigmoid colon with stool in the defect consistent with stercoral perforation. The person was a heavy opioid user
Stercoral perforation is... | Stercoral perforation | None | 1,292 | wikipedia | https://en.wikipedia.org/wiki/Stercoral_perforation | 2021-01-18T18:46:17 | {"wikidata": ["Q7611182"]} |
Eosinophilic fasciitis
Other namesShulman syndrome[1]
SpecialtyRheumatology
Eosinophilic fasciitis (/ˌiːəˌsɪnəˈfɪlɪk ˌfæʃiˈaɪtɪs, ˌiːoʊ-, -ˌfæsi-/[2][3]), also known as "Shulman's syndrome",[4] is a form of fasciitis, the inflammatory diseases that affect the fascia, the connective tissues surrounding mu... | Eosinophilic fasciitis | c0264005 | 1,293 | wikipedia | https://en.wikipedia.org/wiki/Eosinophilic_fasciitis | 2021-01-18T18:41:28 | {"gard": ["6351"], "mesh": ["C562487"], "umls": ["C0264005"], "icd-9": ["728.89"], "icd-10": ["M35.4"], "orphanet": ["3165"], "wikidata": ["Q2325206"]} |
Clay-shoveler fracture
C7 spinous process.
SpecialtyNeurosurgery
Clay-shoveler's fracture is a stable fracture through the spinous process of a vertebra occurring at any of the lower cervical or upper thoracic vertebrae, classically at C6 or C7.[1] In Australia in the 1930s, men digging deep ditches toss... | Clay-shoveler fracture | None | 1,294 | wikipedia | https://en.wikipedia.org/wiki/Clay-shoveler_fracture | 2021-01-18T18:54:34 | {"wikidata": ["Q5129816"]} |
Main article: Myocardial infarction
Myocardial infarction complications may occur immediately following a heart attack (in the acute phase), or may need time to develop (a chronic problem). After an infarction, an obvious complication is a second infarction, which may occur in the domain of another atherosclerot... | Myocardial infarction complications | None | 1,295 | wikipedia | https://en.wikipedia.org/wiki/Myocardial_infarction_complications | 2021-01-18T18:42:42 | {"icd-10": ["I23"], "wikidata": ["Q6947903"]} |
A number sign (#) is used with this entry because some evidence has suggested that susceptibility to idiopathic generalized epilepsy-11 (EIG11), juvenile myoclonic epilepsy-8 (EJM8), and juvenile absence epilepsy-2 (EJA2) may be conferred by variation in the chloride channel-2 gene (CLCN2; 600570) on chromosome 3... | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 | c0270853 | 1,296 | omim | https://www.omim.org/entry/607628 | 2019-09-22T16:08:59 | {"doid": ["0111312"], "mesh": ["D020190"], "omim": ["607628"], "orphanet": ["307"]} |
Type of congenital heart defect
Not to be confused with Teratology.
Tetralogy of Fallot
Other namesFallot’s syndrome, Fallot’s tetrad, Steno-Fallot tetralogy[1]
Diagram of a healthy heart and one with tetralogy of Fallot
SpecialtyCardiac surgery, pediatrics
SymptomsEpisodes of bluish color to the skin, diff... | Tetralogy of Fallot | c0039685 | 1,297 | wikipedia | https://en.wikipedia.org/wiki/Tetralogy_of_Fallot | 2021-01-18T18:54:21 | {"gard": ["2245"], "mesh": ["D013771"], "umls": ["C0039685"], "orphanet": ["3303"], "wikidata": ["Q1126831"]} |
"Hepatite" redirects here. For the mineral of that name, see Baryte.
An inflammation of the liver.
Hepatitis
Alcoholic hepatitis as seen with a microscope, showing fatty changes (white circles), remnants of dead liver cells, and Mallory bodies (twisted-rope shaped inclusions within some liver cells). (H&E sta... | Hepatitis | c0019158 | 1,298 | wikipedia | https://en.wikipedia.org/wiki/Hepatitis | 2021-01-18T18:38:18 | {"mesh": ["D006505"], "umls": ["C0019158"], "wikidata": ["Q131742"]} |
A number sign (#) is used with this entry because of evidence that slow-channel congenital myasthenic syndrome-1A (CMS1A) is caused by heterozygous mutation in the CHRNA1 gene (100690) on chromosome 2q31. There are rare reports of recessive inheritance.
Mutation in the CHRNA1 gene can also cause fast-channel CMS... | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL | c0751882 | 1,299 | omim | https://www.omim.org/entry/601462 | 2019-09-22T16:14:42 | {"doid": ["0110663"], "mesh": ["D020294"], "omim": ["601462"], "orphanet": ["98913", "590"], "synonyms": ["CMS IIa, FORMERLY", "Alternative titles", "MYASTHENIC SYNDROME, CONGENITAL, TYPE IIa, FORMERLY"], "genereviews": ["NBK1168"]} |
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