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The leukocyte group-5 antigenic system, first described by van Leeuwen et al. (1964)--leukocyte group-4 was the early designation for HLA-B and LA the designation for HLA-A--has 2 known alleles (a and b) that segregate independently of the HLA system (van Rood et al., 1967). It is expressed in leukocytes, placent... | LEUKOCYTE ANTIGEN GROUP FIVE | None | 2,900 | omim | https://www.omim.org/entry/151450 | 2019-09-22T16:38:56 | {"omim": ["151450"], "synonyms": ["Alternative titles", "GRANULOCYTE ANTIGEN 5"]} |
Type of acute lung injury
Ventilator-associated lung injury
SpecialtyPulmonology
Ventilator-associated lung injury (VALI) is an acute lung injury that develops during mechanical ventilation and is termed ventilator-induced lung injury (VILI) if it can be proven that the mechanical ventilation caused the acute... | Ventilator-associated lung injury | c2350350 | 2,901 | wikipedia | https://en.wikipedia.org/wiki/Ventilator-associated_lung_injury | 2021-01-18T18:57:28 | {"mesh": ["D055397"], "icd-9": ["J95859"], "wikidata": ["Q7920251"]} |
12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patie... | 12q14 microdeletion syndrome | c4305140 | 2,902 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94063 | 2021-01-23T19:10:46 | {"icd-10": ["Q93.5"], "synonyms": ["Del(12)(q14)", "Deletion 12q14", "Monosomy 12q14", "Osteopoikilosis-short stature-intellectual disability syndrome"]} |
Gonadoblastoma
Micrograph of a gonadoblastoma. H&E stain.
SpecialtyUrology, oncology
A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements,[1] such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells. Gonadoblastomas ... | Gonadoblastoma | c0206661 | 2,903 | wikipedia | https://en.wikipedia.org/wiki/Gonadoblastoma | 2021-01-18T18:54:44 | {"mesh": ["D018238"], "umls": ["C0206661"], "orphanet": ["206484"], "wikidata": ["Q5581320"]} |
## Summary
### Clinical characteristics.
ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervi... | ELANE-Related Neutropenia | None | 2,904 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1533/ | 2021-01-18T21:29:35 | {"synonyms": []} |
Cogan syndrome is a rare autoimmune disease that affects the eyes and inner ears. Symptoms of the syndrome include irritation and pain in the eyes, decreased vision, hearing loss, and vertigo. Other symptoms may include joint or muscle pain or inflammation of the blood vessels.
The exact cause of Cogan syndrome ... | Cogan's syndrome | c0271270 | 2,905 | gard | https://rarediseases.info.nih.gov/diseases/1421/cogans-syndrome | 2021-01-18T17:56:59 | {"mesh": ["D055952"], "synonyms": ["Cogan syndrome"]} |
During a large-scale survey of persons with Usher syndrome (retinitis pigmentosa and sensorineural deafness), Beighton et al. (1993) identified 14 children in 9 Afrikaner families in South Africa with a combination of progressive rod-cone dystrophy, sensorineural deafness, and renal dysfunction of the Fanconi type le... | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | c1849333 | 2,906 | omim | https://www.omim.org/entry/268315 | 2019-09-22T16:22:32 | {"mesh": ["C564829"], "omim": ["268315"]} |
Abdominal aura (also known as visceral aura and epigastric aura) is used to denote a type of somatosensory or somaesthetic aura that typically manifests itself as a rising epigastric sensation. The term is indebted to the Latin words abdomen (belly) and aura (wind, smell).[1]
Other presentations of the abdominal aur... | Abdominal aura | c4023506 | 2,907 | wikipedia | https://en.wikipedia.org/wiki/Abdominal_aura | 2021-01-18T18:42:33 | {"umls": ["C4023506"], "wikidata": ["Q4665116"]} |
Thrombotic microangiopathy
Micrograph of thrombotic microangiopathy with the characteristic onion-skin layering seen in older lesions. PAS stain.
SpecialtyRheumatology
Thrombotic microangiopathy (TMA) is a pathology that results in thrombosis in capillaries and arterioles, due to an endothelial injury.[1] It... | Thrombotic microangiopathy | c2717961 | 2,908 | wikipedia | https://en.wikipedia.org/wiki/Thrombotic_microangiopathy | 2021-01-18T19:07:11 | {"gard": ["12465"], "mesh": ["D057049"], "umls": ["C2717961"], "icd-9": ["446.6"], "icd-10": ["M31.1"], "orphanet": ["93573"], "wikidata": ["Q3312044"]} |
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 | c0029454 | 2,909 | gard | https://rarediseases.info.nih.gov/diseases/4155/osteopetrosis | 2021-01-18T17:58:32 | {"mesh": ["D010022"], "umls": ["C0029454"], "orphanet": ["2781"], "synonyms": ["Osteopetroses", "Marble bones", "Marble bone disease", "Albers-Schonberg disease", "Osteosclerosis fragilis", "Albers-Schonberg osteopetrosis", "Albers-Schoenberg disease", "Osteopetrosis and related disorders"]} |
Extravasation
SpecialtyToxicology
Extravasation is the leakage of intravenously (IV) infused, and potentially damaging, medications into the extravascular tissue around the site of infusion. The leakage can occur through brittle veins in the elderly, through previous venipuncture access, or through direct leak... | Extravasation (intravenous) | c0015376 | 2,910 | wikipedia | https://en.wikipedia.org/wiki/Extravasation_(intravenous) | 2021-01-18T18:48:34 | {"mesh": ["D005119"], "umls": ["C0015376"], "wikidata": ["Q2051919"]} |
A number sign (#) is used with this entry because of evidence that fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) is caused by compound heterozygous mutation in the NHLRC2 gene (618277) on chromosome 10q25.
Description
Fibrosis, neurodegeneration, and cerebral angiomatosis is characterized by severe... | FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS | None | 2,911 | omim | https://www.omim.org/entry/618278 | 2019-09-22T15:42:43 | {"omim": ["618278"]} |
A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cer... | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | None | 2,912 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369847 | 2021-01-23T17:41:30 | {"icd-10": ["G25.5"]} |
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: "Vesicoureteral reflux" – news · newspapers · books · scholar · JSTOR (July 2017) (Learn how and when to remove this tem... | Vesicoureteral reflux | c0042580 | 2,913 | wikipedia | https://en.wikipedia.org/wiki/Vesicoureteral_reflux | 2021-01-18T18:46:57 | {"mesh": ["D014718"], "umls": ["C0042580"], "orphanet": ["289365"], "wikidata": ["Q1550521"]} |
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.
Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper c... | Birt-Hogg-Dubé syndrome | c0346010 | 2,914 | medlineplus | https://medlineplus.gov/genetics/condition/birt-hogg-dube-syndrome/ | 2021-01-27T08:25:34 | {"gard": ["2322"], "mesh": ["D058249"], "omim": ["135150"], "synonyms": []} |
Wolcott–Rallison syndrome
Other namesEarly-onset diabetes mellitus with multiple epiphyseal dysplasia
Radiograph of a WRS child presenting with dysplastic bone growth in various regions of the body.
Wolcott–Rallison syndrome, WRS, is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, ... | Wolcott–Rallison syndrome | c0432217 | 2,915 | wikipedia | https://en.wikipedia.org/wiki/Wolcott%E2%80%93Rallison_syndrome | 2021-01-18T18:30:06 | {"gard": ["5589"], "mesh": ["C536739"], "umls": ["C0432217"], "orphanet": ["1667"], "wikidata": ["Q8029730"]} |
A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-18 with polydactyly (SRTD18) is caused by homozygous mutation in the IFT43 gene (614068) on chromosome 14q24.
Description
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal... | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | c4693420 | 2,916 | omim | https://www.omim.org/entry/617866 | 2019-09-22T15:44:36 | {"omim": ["617866"]} |
Synucleinopathy
Other namesα-Synucleinopathies
Positive α-Synuclein staining of a Lewy body in a patient with Parkinson's disease.
SpecialtyNeurology
Synucleinopathies (also called α-Synucleinopathies) are neurodegenerative diseases characterised by the abnormal accumulation of aggregates of alpha-synuclei... | Synucleinopathy | None | 2,917 | wikipedia | https://en.wikipedia.org/wiki/Synucleinopathy | 2021-01-18T18:56:21 | {"wikidata": ["Q2376264"]} |
A number sign (#) is used with this entry because immunodeficiency-21 (IMD21) is caused by heterozygous mutation in the GATA2 gene (137295) on chromosome 3q21.
Primary lymphedema with myelodysplasia (614038), or Emberger syndrome, is an allelic disorder with overlapping clinical features.
Description
This primary ... | IMMUNODEFICIENCY 21 | c3280030 | 2,918 | omim | https://www.omim.org/entry/614172 | 2019-09-22T15:56:14 | {"mesh": ["D000077428"], "omim": ["614172"], "orphanet": ["228423"], "synonyms": ["DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY", "MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA", "Combined immunodeficiency with susceptibi... |
SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (spe... | Autism spectrum disorder-epilepsy-arthrogryposis syndrome | c3809910 | 2,919 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370943 | 2021-01-23T17:08:46 | {"omim": ["615553"], "icd-10": ["Q87.8"], "synonyms": ["SLC35A3-CDG"]} |
A number sign (#) is used with this entry because 3-methylglutaconic aciduria type V (MGCA5), also called dilated cardiomyopathy with ataxia, is caused by homozygous mutation in the DNAJC19 gene (608977) on chromosome 3q26.
Description
3-Methylglutaconic aciduria type V is an autosomal recessive disorder characteri... | 3-METHYLGLUTACONIC ACIDURIA, TYPE V | c1857776 | 2,920 | omim | https://www.omim.org/entry/610198 | 2019-09-22T16:04:58 | {"doid": ["0110000"], "mesh": ["C565706"], "omim": ["610198"], "orphanet": ["66634"], "synonyms": ["Alternative titles", "CARDIOMYOPATHY, DILATED, WITH ATAXIA", "MGA, TYPE V"]} |
A neuropathy causing itching between the shoulder blades
Notalgia paresthetica
Other namesNotalgia paraesthetica
Notalgia Paresthetica
SpecialtyNeurology
Notalgia paraesthetica (NP) or notalgia paresthetica (also known as "Hereditary localized pruritus", "Posterior pigmented pruritic patch", and "subscapu... | Notalgia paresthetica | c0457010 | 2,921 | wikipedia | https://en.wikipedia.org/wiki/Notalgia_paresthetica | 2021-01-18T19:06:03 | {"gard": ["7225"], "wikidata": ["Q494925"]} |
Belief that symptoms are caused by an unproven infection
Not to be confused with Neuroborreliosis or Post-treatment Lyme disease syndrome.
Chronic Lyme disease
Pseudomedical diagnosis
RisksNocebo
Treatment risksDangers of long-term antibiotic therapy
LegalitySome jurisdictions have legislated to protect... | Chronic Lyme disease | c3890422 | 2,922 | wikipedia | https://en.wikipedia.org/wiki/Chronic_Lyme_disease | 2021-01-18T18:38:19 | {"mesh": ["D000077342"], "umls": ["C3890422"], "wikidata": ["Q17103401"]} |
A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.
*[v]: V... | Neurogenic scapuloperoneal syndrome, Kaeser type | c1867005 | 2,923 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85146 | 2021-01-23T18:38:13 | {"gard": ["10312"], "mesh": ["C566695"], "omim": ["181400"], "umls": ["C1867005"], "icd-10": ["G12.1"], "synonyms": ["Kaeser syndrome", "Stark-Kaeser syndrome"]} |
Nephronophthisis
Nephronophthisis has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics
SymptomsPolyuria[1]
TypesInfantile, Juvenile and Adult NPH[2]
Diagnostic methodRenal ultrasound[2]
TreatmentHypertension and anemia management[2]
Nephronophthisis is a genetic disorder of th... | Nephronophthisis | c0687120 | 2,924 | wikipedia | https://en.wikipedia.org/wiki/Nephronophthisis | 2021-01-18T18:37:21 | {"gard": ["206"], "umls": ["C0687120"], "orphanet": ["655"], "wikidata": ["Q1257011"]} |
Abandoned child syndrome
SpecialtyPsychiatry
Abandoned child syndrome is a proposed behavioral or psychological condition that results primarily from the loss of one or both parents, or sexual abuse. Abandonment may be physical (the parent is not present in the child's life) or emotional (the parent withho... | Abandoned child syndrome | None | 2,925 | wikipedia | https://en.wikipedia.org/wiki/Abandoned_child_syndrome | 2021-01-18T19:05:10 | {"wikidata": ["Q4663376"]} |
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes o... | Alpha-methylacyl-CoA racemase deficiency | c3280428 | 2,926 | medlineplus | https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency/ | 2021-01-27T08:24:36 | {"mesh": ["C565768"], "omim": ["614307"], "synonyms": []} |
Abortion in Alaska is legal. 63% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases. Alaska was one of only four states to make abortion legal between 1967 and 1970, a few years before the US Supreme Court's decision in 1973's Roe v. Wade ruling. Alaska had consent ... | Abortion in Alaska | None | 2,927 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Alaska | 2021-01-18T18:30:22 | {"wikidata": ["Q64876901"]} |
Molar pregnancy is a condition in which the placenta does not develop properly. The symptoms of molar pregnancy, which may include vaginal bleeding, severe morning sickness, stomach cramps, and high blood pressure, typically begin around the 10th week of pregnancy. Because the embryo does not form or is malformed... | Hydatidiform mole | c0020217 | 2,928 | gard | https://rarediseases.info.nih.gov/diseases/10263/hydatidiform-mole | 2021-01-18T17:59:57 | {"mesh": ["D006828"], "orphanet": ["99927"], "synonyms": ["HYDM", "Hydatid mole", "Molar pregnancy"]} |
A number sign (#) is used with this entry because autosomal recessive deafness-63 (DFNB63) is caused by homozygous mutation in the LRTOMT gene (612414) on chromosome 11q13.
Clinical Features
Tlili et al. (2006) reported a consanguineous 6-generation Tunisian family segregating autosomal recessive congenital hearing... | DEAFNESS, AUTOSOMAL RECESSIVE 63 | c1969621 | 2,929 | omim | https://www.omim.org/entry/611451 | 2019-09-22T16:03:22 | {"doid": ["0110515"], "mesh": ["C566951"], "omim": ["611451"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"], "genereviews": ["NBK14... |
"Shipping fever" redirects here. For a related family of diseases sometimes referred to as "shipping fever", see Pleuropneumonia.
Bovine respiratory disease (BRD) is the most common and costly disease affecting beef cattle in the world.[1] It is a complex, bacterial infection that causes pneumonia in calves which ca... | Bovine respiratory disease | None | 2,930 | wikipedia | https://en.wikipedia.org/wiki/Bovine_respiratory_disease | 2021-01-18T18:34:07 | {"wikidata": ["Q17115892"]} |
Endometrioid tumor
Histopathology of a well-differentiated endometrioid adenocarcinoma in the ovary
SpecialtyOncology, gynecology
Endometrioid tumors are a class of tumor characterized by a resemblance to endometrium/[1] endometrial carcinoma, and over a third of cases have focal squamous differentiation.
#... | Endometrioid tumor | c0474809 | 2,931 | wikipedia | https://en.wikipedia.org/wiki/Endometrioid_tumor | 2021-01-18T18:34:27 | {"wikidata": ["Q5376366"]} |
Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.
## Epidemiology
The incidence of MMD is highest in Asian populations but MMD occurs in many other ethnic groups. T... | Moyamoya disease | c0026654 | 2,932 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2573 | 2021-01-23T18:16:24 | {"gard": ["7064"], "mesh": ["D009072", "C536991"], "omim": ["252350", "607151", "608796", "614042"], "umls": ["C0026654", "C2931384"], "icd-10": ["I67.5"], "synonyms": ["Idiopathic Moyamoya disease"]} |
Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia),... | Malonyl-CoA decarboxylase deficiency | c0342793 | 2,933 | medlineplus | https://medlineplus.gov/genetics/condition/malonyl-coa-decarboxylase-deficiency/ | 2021-01-27T08:25:27 | {"gard": ["3371"], "mesh": ["C535702"], "omim": ["248360"], "synonyms": []} |
Okihiro syndrome is a syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia ... | Okihiro syndrome | c1623209 | 2,934 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93293 | 2021-01-23T18:13:11 | {"gard": ["9182"], "mesh": ["D004370"], "omim": ["607323"], "umls": ["C1623209"], "icd-10": ["Q87.8"], "synonyms": ["Duane-radial ray syndrome"]} |
A number sign (#) is used with this entry because of evidence that cleft palate, cardiac defects, and mental retardation (CPCMR) is caused by heterozygous mutation in the MEIS2 gene (601740) on chromosome 15q14.
Clinical Features
Percin et al. (1995) reported a family in which members in 3 generations showed variou... | CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION | c1832950 | 2,935 | omim | https://www.omim.org/entry/600987 | 2019-09-22T16:15:32 | {"mesh": ["C563414"], "omim": ["600987"], "synonyms": ["Alternative titles", "CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY, AND DIGITAL ANOMALIES"]} |
A number sign (#) is used with this entry because Czech dysplasia is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.
Description
Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short... | CZECH DYSPLASIA | c1836683 | 2,936 | omim | https://www.omim.org/entry/609162 | 2019-09-22T16:06:34 | {"mesh": ["C535766"], "omim": ["609162"], "orphanet": ["137678"], "synonyms": ["Alternative titles", "CZECH DYSPLASIA, METATARSAL TYPE", "PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES", "SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS"]} |
Contrast-induced nephropathy
Other namesCIN
SpecialtyNephrology
Contrast-induced nephropathy (CIN) is a form of kidney damage in which there has been recent exposure to medical imaging contrast material without another clear cause for the acute kidney injury. CIN is classically defined as a serum creatinine ... | Contrast-induced nephropathy | c4055183 | 2,937 | wikipedia | https://en.wikipedia.org/wiki/Contrast-induced_nephropathy | 2021-01-18T18:58:16 | {"umls": ["C4055183"], "icd-9": ["586"], "icd-10": ["N14.1"], "wikidata": ["Q1783300"]} |
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W... | Langer mesomelic dysplasia | c0432230 | 2,938 | wikipedia | https://en.wikipedia.org/wiki/Langer_mesomelic_dysplasia | 2021-01-18T18:35:48 | {"gard": ["3553"], "mesh": ["C537267"], "umls": ["C0432230"], "icd-10": ["Q87.1"], "orphanet": ["2632"], "wikidata": ["Q16550087"]} |
Vascular tumor
A hemangioma, a benign type of vascular tumor
SpecialtyOncology
A vascular tumor is a tumor of vascular origin; a soft tissue growth that can be either benign or malignant, formed from blood vessels or lymph vessels.[1] Examples of vascular tumors include hemangiomas, lymphangiomas, hemang... | Vascular tumor | c0282607 | 2,939 | wikipedia | https://en.wikipedia.org/wiki/Vascular_tumor | 2021-01-18T19:02:45 | {"mesh": ["D019043"], "umls": ["C0282607", "C0027668"], "orphanet": ["211237"], "wikidata": ["Q25422732"]} |
Not to be confused with Homothorax.
Blood accumulation in the pleural cavity
Hemothorax
Other namesHaemothorax
Haemorrhagic pleural effusion
Chest X-ray showing left sided hemothorax (arrowed)
SpecialtyPulmonology
SymptomsChest pain
Difficulty breathing
ComplicationsEmpyema
Fibrothorax
TypesTr... | Hemothorax | c0019123 | 2,940 | wikipedia | https://en.wikipedia.org/wiki/Hemothorax | 2021-01-18T19:00:51 | {"mesh": ["D006491"], "umls": ["C0019123"], "icd-9": ["860", "511.8"], "icd-10": ["J94.2", "S27.1"], "wikidata": ["Q369073"]} |
A number sign (#) is used with this entry because congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is caused by homozygous or compound heterozygous mutation in the CYP11B1 gene (610613) on chromosome 8q24.
Description
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency... | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | c0268292 | 2,941 | omim | https://www.omim.org/entry/202010 | 2019-09-22T16:31:26 | {"doid": ["0050811"], "mesh": ["C535978"], "omim": ["202010"], "orphanet": ["90795", "418"], "synonyms": ["Alternative titles", "ADRENAL HYPERPLASIA IV", "STEROID 11-BETA-HYDROXYLASE DEFICIENCY", "11-BETA-HYDROXYLASE DEFICIENCY", "ADRENAL HYPERPLASIA, HYPERTENSIVE FORM", "P450C11B1 DEFICIENCY"]} |
Oral leukoplakia describes a white plaque that does not rub off and cannot be characterized as any other condition. Though it may occur in any part of the mouth, it generally affects the tongue, gums, and inner cheek. Physicians will usually biopsy oral leukoplakia lesions as 20-40% of cases are precancerous or cance... | Oral leukoplakia | c0023532 | 2,942 | gard | https://rarediseases.info.nih.gov/diseases/7260/oral-leukoplakia | 2021-01-18T17:58:34 | {"mesh": ["D007972"], "umls": ["C0023532"], "synonyms": []} |
Bartram et al. (1982) observed subacute sclerosing panencephalitis in a brother and sister of nonconsanguineous parents of 11 children living in rural Turkey. An interval of 4 years separated onset of symptoms in the 2 children. Fibroblast interferon had no beneficial effect.
Neuro \- Subacute sclerosing panencep... | PANENCEPHALITIS, SUBACUTE SCLEROSING | c0038522 | 2,943 | omim | https://www.omim.org/entry/260470 | 2019-09-22T16:23:47 | {"doid": ["8970"], "mesh": ["D013344"], "omim": ["260470"], "icd-9": ["046.2"], "icd-10": ["A81.1"], "orphanet": ["2806"], "synonyms": ["Alternative titles", "SUBACUTE SCLEROSING PANENCEPHALITIS"]} |
Abortion in Spain is legal upon request up to 14 weeks of pregnancy, and at later stages for serious risk to the health of the woman or fetal defects.[1]
Abortion legislation in Spain has a fluctuating history. During the 1930s, abortion law was liberalized in the area controlled by the Republicans, but this was sho... | Abortion in Spain | None | 2,944 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Spain | 2021-01-18T18:29:00 | {"wikidata": ["Q2874481"]} |
Gaucher disease type 1 (GD1) is the most common form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA) is made. GBA is an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-... | Gaucher disease type 1 | c1961835 | 2,945 | gard | https://rarediseases.info.nih.gov/diseases/2441/gaucher-disease-type-1 | 2021-01-18T18:00:22 | {"mesh": ["D005776"], "omim": ["230800"], "orphanet": ["77259"], "synonyms": ["Gaucher disease, noncerebral juvenile", "GD 1", "Glucocerebrosidase deficiency", "Acid beta-glucosidase deficiency", "GBA DEFICIENCY"]} |
Relatively benign brain cancer involving ependymal cells
Subependymoma
Micrograph of a subependymoma showing the characteristic clustering of nuclei. H&E stain.
SpecialtyNeoplasms
A subependymoma is a type of brain tumor; specifically, it is a rare form of ependymal tumor.[1] They are usually in middle aged... | Subependymoma | c0206725 | 2,946 | wikipedia | https://en.wikipedia.org/wiki/Subependymoma | 2021-01-18T18:51:10 | {"gard": ["10070"], "mesh": ["D018315"], "wikidata": ["Q7631123"]} |
A number sign (#) is used with this entry because autosomal dominant deafness-3A (DFNA3A) is caused by heterozygous mutation in the connexin-26 gene (GJB2; 121011) on chromosome 13q12.
See also DFNA3B (612643), which is caused by mutation in the connexin-30 gene (GJB6; 604418) on chromosome 13q12.
Clinical Feat... | DEAFNESS, AUTOSOMAL DOMINANT 3A | c2675750 | 2,947 | omim | https://www.omim.org/entry/601544 | 2019-09-22T16:14:37 | {"doid": ["0110564"], "mesh": ["C567277"], "omim": ["601544"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolate... |
For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700).
Mapping
Maris et al. (2008) provided evidence for 1 or more candidate neuroblastoma susceptibility genes on chromosome 6p22. Among 1,032 neuroblastoma patients and 2,043 controls of European descent... | NEUROBLASTOMA, SUSCEPTIBILITY TO, 4 | c0027819 | 2,948 | omim | https://www.omim.org/entry/613015 | 2019-09-22T16:00:06 | {"mesh": ["D009447"], "omim": ["613015"], "orphanet": ["635"]} |
Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny... | Parkes Weber syndrome | c1842180 | 2,949 | medlineplus | https://medlineplus.gov/genetics/condition/parkes-weber-syndrome/ | 2021-01-27T08:24:55 | {"gard": ["9787"], "mesh": ["C564254"], "omim": ["608354"], "synonyms": []} |
A number sign (#) is used with this entry because several chromosome aberrations, including recurrent translocations and deletions, have been found to be related to the development or progression of multiple myeloma; see CYTOGENETICS section.
Description
Multiple myeloma is a neoplastic plasma cell disorder charact... | MYELOMA, MULTIPLE | c0026764 | 2,950 | omim | https://www.omim.org/entry/254500 | 2019-09-22T16:24:41 | {"doid": ["9538"], "mesh": ["D009101"], "omim": ["254500"], "icd-9": ["203.0"], "icd-10": ["C90.0", "C90.00"], "orphanet": ["29073", "314701", "85443"]} |
Oodinium, a genus of parasitic dinoflagellates, causes velvet disease in fish
Velvet disease (also called gold-dust, rust and coral disease) is a fish disease caused by dinoflagellate parasites of the genus Piscinoodinium, specifically Amyloodinium in marine fish, and Oodinium in freshwater fish. The disease gives i... | Velvet (fish disease) | None | 2,951 | wikipedia | https://en.wikipedia.org/wiki/Velvet_(fish_disease) | 2021-01-18T18:52:07 | {"wikidata": ["Q2217862"]} |
A number sign (#) is used with this entry because of evidence that this form of autosomal recessive mental retardation (MRT6) is caused by homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2; 138244) on chromosome 6q16.
Clinical Features
Motazacker et al. (2007) reviewed phenotypic features o... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 | c1970198 | 2,952 | omim | https://www.omim.org/entry/611092 | 2019-09-22T16:03:39 | {"doid": ["0060308"], "mesh": ["C567017"], "omim": ["611092"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by ... | Usher syndrome type 3 | c1568248 | 2,953 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231183 | 2021-01-23T17:37:50 | {"gard": ["5442"], "mesh": ["D052245"], "omim": ["276902", "500004", "614504"], "umls": ["C1568248"], "icd-10": ["H35.5"], "synonyms": ["USH3"]} |
Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dement... | Frontotemporal dementia | c0338451 | 2,954 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=282 | 2021-01-23T18:00:52 | {"gard": ["8436"], "mesh": ["D057180"], "omim": ["172700", "600274", "600795", "607485"], "umls": ["C0338451"], "icd-10": ["G31.0"], "synonyms": ["FTD"]} |
Jalili (1989) studied 2 female cousins, both the products of consanguineous marriages, affected with severe retinal dystrophy characterized by visual impairment from birth and profound photophobia in the absence of night blindness. The ophthalmologic characteristics suggested a cone-rod type of congenital amaurosis. ... | AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS | c1857588 | 2,955 | omim | https://www.omim.org/entry/204110 | 2019-09-22T16:31:11 | {"mesh": ["C536604"], "omim": ["204110"], "orphanet": ["1021"]} |
Spinal enthesopathy
SpecialtyRheumatology
Spinal enthesopathy is a form of enthesopathy affecting the spine.[1]
## References[edit]
1. ^ Ball, John (1 January 1983). "The Enthesopathy of Ankylosing Spondylitis". Rheumatology. XXII (suppl_2): 25–28. doi:10.1093/rheumatology/XXII.suppl_2.25.
## External lin... | Spinal enthesopathy | c0152090 | 2,956 | wikipedia | https://en.wikipedia.org/wiki/Spinal_enthesopathy | 2021-01-18T18:48:02 | {"icd-9": ["720.1"], "icd-10": ["M46.0"], "wikidata": ["Q7577458"]} |
Contact granuloma
Other namesContact ulcer, Vocal fold contact ulcer or Vocal process granuloma
Healthy vocal folds. Contact granulomas may form in the posterior part of the larynx.
SpecialtyOtolaryngologist
Contact granuloma is a condition that develops due to persistent tissue irritation in the poste... | Contact granuloma | c4040427 | 2,957 | wikipedia | https://en.wikipedia.org/wiki/Contact_granuloma | 2021-01-18T19:10:03 | {"umls": ["C4040427"], "wikidata": ["Q5164829"]} |
A number sign (#) is used with this entry because of evidence that hereditary motor and sensory neuropathy type VIB with optic atrophy (HMSN6B) is caused by homozygous or compound heterozygous mutation in the SLC25A46 gene (610826) on chromosome 5q22.
Description
Hereditary motor and sensory neuropathy type VIB is ... | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY | c0393807 | 2,958 | omim | https://www.omim.org/entry/616505 | 2019-09-22T15:48:39 | {"doid": ["0080068"], "mesh": ["C562851"], "omim": ["616505"], "orphanet": ["90120"], "synonyms": ["Alternative titles", "HMSN VIB", "CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B"]} |
Late-onset familial Alzheimer disease, is a form of familial Alzheimer disease, that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD i... | Late-Onset Familial Alzheimer Disease | None | 2,959 | gard | https://rarediseases.info.nih.gov/diseases/12799/late-onset-familial-alzheimer-disease | 2021-01-18T17:59:30 | {"synonyms": []} |
Rotor syndrome
Other namesRotor type hyperbilirubinemia[1]
Bilirubin
SpecialtyPediatrics, hepatology
Rotor syndrome (also known as Rotor type hyperbilirubinemia)[2] is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive[3] bilirub... | Rotor syndrome | c0220991 | 2,960 | wikipedia | https://en.wikipedia.org/wiki/Rotor_syndrome | 2021-01-18T18:39:30 | {"gard": ["218"], "mesh": ["D006933"], "umls": ["C0220991"], "icd-9": ["277.4"], "icd-10": ["E80.6"], "orphanet": ["3111"], "wikidata": ["Q1512812"]} |
Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.
The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagg... | Cutis laxa | c3276539 | 2,961 | medlineplus | https://medlineplus.gov/genetics/condition/cutis-laxa/ | 2021-01-27T08:25:11 | {"gard": ["6227", "4017"], "omim": ["123700", "614434", "616603", "219100", "614437", "613177", "219200", "612940", "219150", "614438", "614100", "304150"], "synonyms": []} |
Bangstad syndrome
Other namesAtaxia-diabetes-goiter-gonadal insufficiency syndrome
This condition is inherited in an autosomal recessive manner
Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane.
It was characterized in 1989.[1]
## Contents
* ... | Bangstad syndrome | c0342284 | 2,962 | wikipedia | https://en.wikipedia.org/wiki/Bangstad_syndrome | 2021-01-18T18:47:51 | {"gard": ["812"], "mesh": ["C537902"], "umls": ["C0342284"], "orphanet": ["1227"], "wikidata": ["Q4855629"]} |
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnor... | Carpenter syndrome | c1275078 | 2,963 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65759 | 2021-01-23T18:52:39 | {"gard": ["6003"], "mesh": ["C563187"], "omim": ["201000", "614976"], "umls": ["C1275078"], "icd-10": ["Q87.0"], "synonyms": ["ACPS2", "Acrocephalopolysyndactyly type 2"]} |
Common variable immunodeficiency (CVID) is a group of disorders characterized by low levels of a type of protein known as immunoglobulins (Ig). Because of low level of Ig, the immune system cannot make antibodies that fight bacteria, viruses or other toxins in the body. This leads to frequent infections, particularly... | Common variable immunodeficiency | c0009447 | 2,964 | gard | https://rarediseases.info.nih.gov/diseases/6140/common-variable-immunodeficiency | 2021-01-18T18:01:13 | {"mesh": ["D017074"], "omim": ["607594"], "orphanet": ["1572"], "synonyms": ["CVID", "Common variable hypogamma-globulinemia", "Hypogamma-globulinemia, acquired", "Immunoglobulin deficiency, late-onset", "Common variable immune deficiency", "Idiopathic immunoglobulin deficiency", "Primary antibody deficiency", "Primary... |
Epithelial basement membrane dystrophy
Other namesMap-dot-fingerprint dystrophy and Cogans's microcystic dystrophy
SpecialtyOphthalmology
Epithelial basement membrane dystrophy (EBMD), is a disorder of the eye that can cause pain and dryness.
It is sometimes included in the group of corneal dystrophies.[1] ... | Epithelial basement membrane dystrophy | c0521723 | 2,965 | wikipedia | https://en.wikipedia.org/wiki/Epithelial_basement_membrane_dystrophy | 2021-01-18T19:01:02 | {"gard": ["9732"], "mesh": ["C535477"], "umls": ["C0521723"], "orphanet": ["98956"], "wikidata": ["Q4162388"]} |
Overview of obesity in Germany
Obesity in Germany has been increasingly cited as a major health issue in recent years. The federal government has declared this to be a major issue.[1]
Data released by the World Health Organisation in 2014 showed that while an issue of growing concern, within the European Union,... | Obesity in Germany | None | 2,966 | wikipedia | https://en.wikipedia.org/wiki/Obesity_in_Germany | 2021-01-18T19:02:47 | {"wikidata": ["Q7074854"]} |
The examples and perspective in this article deal primarily with the United States and do not represent a worldwide view of the subject. You may improve this article, discuss the issue on the talk page, or create a new article, as appropriate. (March 2013) (Learn how and when to remove this template message)
... | Concussions in sport | None | 2,967 | wikipedia | https://en.wikipedia.org/wiki/Concussions_in_sport | 2021-01-18T19:05:51 | {"wikidata": ["Q5159124"]} |
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.
*[v]: View this template
*[t]: Discuss this temp... | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | None | 2,968 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329249 | 2021-01-23T17:10:12 | {"icd-10": ["E66.8"]} |
A number sign (#) is used with this entry because of evidence that multiple fibroadenomas of the breast (MFAB) are caused by heterozygous mutation in the PRLR gene (176761) on chromosome 5p13.
Description
Fibroadenoma represents a benign breast disease characterized by lobuloalveolar growth with abnormally high pro... | MULTIPLE FIBROADENOMAS OF THE BREAST | c3809918 | 2,969 | omim | https://www.omim.org/entry/615554 | 2019-09-22T15:51:37 | {"omim": ["615554"], "orphanet": ["50920"], "synonyms": ["Mammary polyadenomatosis"]} |
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in pat... | Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms | None | 2,970 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90399 | 2021-01-23T17:33:45 | {"icd-10": ["L98.5"]} |
A number sign (#) is used with this entry because of evidence that the exclusively skeletal form of Antley-Bixler syndrome can be caused by heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2 (176943), on chromosome 10q26.
A form of Antley-Bixler syndrome that includes disordered steroidogenesis... | ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS | c2936791 | 2,971 | omim | https://www.omim.org/entry/207410 | 2019-09-22T16:30:55 | {"doid": ["0050462"], "mesh": ["D054882"], "omim": ["207410"], "orphanet": ["83"], "synonyms": ["Alternative titles", "TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME", "MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES", "OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES"]} |
Hidradenoma
Other namesAcrospiroma, cystadenoma, hydrocystadenomas
Micrograph showing an acrospiroma. H&E stain.
SpecialtyDermatology
Hidradenoma refers to a benign adnexal tumor of the apical sweat gland.[1][2] These are 1–3 cm translucent blue cystic nodules. It usually presents as a single, small skin-c... | Hidradenoma | c0019522 | 2,972 | wikipedia | https://en.wikipedia.org/wiki/Hidradenoma | 2021-01-18T19:04:18 | {"mesh": ["D006607"], "umls": ["C0019522"], "wikidata": ["Q12822297"]} |
## Clinical Features
Cantu et al. (1981, 1985) reported a second Guadalajara camptodactyly syndrome; see 211910 for a description of type I. Two sisters, aged 6 and 3 years, presented the same intrauterine growth retardation-malformation syndrome characterized by low birthweight dwarfism and a variety of dysmor... | CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II | c2673861 | 2,973 | omim | https://www.omim.org/entry/211920 | 2019-09-22T16:30:13 | {"mesh": ["C567138"], "omim": ["211920"], "orphanet": ["1326"]} |
"Mucous cyst" redirects here. For swelling of connective oral tissue, see Oral mucocele.
Myxoid cyst
Other namesDigital mucous cyst,[1] and Mucous cyst[1])
Digital mucous cyst in left index finger with nail depression
SpecialtyOncology, rheumatology
A Myxoid cyst is a cutaneous condition often characteriz... | Myxoid cyst | c1258666 | 2,974 | wikipedia | https://en.wikipedia.org/wiki/Myxoid_cyst | 2021-01-18T19:01:44 | {"mesh": ["D045888"], "wikidata": ["Q6949364"]} |
Metatropic dysplasia is a skeletal disorder characterized by short stature, shortened arms and legs, and a long narrow chest. The signs and symptoms of this condition can vary from life threatening to mild. Signs and symptoms may include worsening abnormal curvature of the spine (scoliosis and kyphosis), flatteni... | Metatropic dysplasia | c0265281 | 2,975 | gard | https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia | 2021-01-18T17:59:07 | {"mesh": ["C537356"], "omim": ["156530"], "umls": ["C0265281"], "orphanet": ["2635"], "synonyms": ["Metatropic dwarfism", "Metatropic dysplasia, nonlethal dominant"]} |
## Clinical Features
Duncan et al. (1979) reported 2 female patients and 28 others in the literature with the combination of mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia (MURCS). The authors postulated an alteration affecting blastemas of the lower cervical-upper thoracic s... | MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC SOMITE ANOMALIES | c1698581 | 2,976 | omim | https://www.omim.org/entry/601076 | 2019-09-22T16:15:27 | {"mesh": ["C537371"], "omim": ["601076"], "orphanet": ["3109", "2578"], "synonyms": ["Alternative titles", "MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME, TYPE II", "MRKH, TYPE II", "KLIPPEL-FEIL DEFORMITY, CONDUCTIVE DEAFNESS, AND ABSENT VAGINA"]} |
Palilalia (from the Greek πάλιν (pálin) meaning "again" and λαλιά (laliá) meaning "speech" or "to talk"),[1] a complex tic, is a language disorder characterized by the involuntary repetition of syllables, words, or phrases. It has features resembling other complex tics such as echolalia or coprolalia, but, unlike oth... | Palilalia | c0392185 | 2,977 | wikipedia | https://en.wikipedia.org/wiki/Palilalia | 2021-01-18T18:53:29 | {"wikidata": ["Q1757666"]} |
Patients with acute lymphoblastic leukemia (ALL) who present with bulky disease of the lymph nodes, spleen, and mediastinum, so-called lymphomatous ALL (LALL), appear clinically to represent a distinct category of ALL of T-cell lineage. The biologic basis of this distinction was pointed out by Chilcote et al. (19... | LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES | c0023449 | 2,978 | omim | https://www.omim.org/entry/247640 | 2019-09-22T16:25:45 | {"doid": ["9952"], "omim": ["247640"], "orphanet": ["513"], "synonyms": ["Alternative titles", "LYMPHOMATOUS ALL"]} |
A number sign (#) is used with this entry because heme oxygenase-1 deficiency can be caused by compound heterozygous mutation in the HMOX1 gene (141250) on chromosome 22q13.
Clinical Features
Yachie et al. (1999) reported the first human case of heme oxygenase-1 deficiency. The patient was 26 months old when he was... | HEME OXYGENASE 1 DEFICIENCY | c1841651 | 2,979 | omim | https://www.omim.org/entry/614034 | 2019-09-22T15:56:44 | {"mesh": ["C564200"], "omim": ["614034"]} |
A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidi... | Fragile X syndrome | c0016667 | 2,980 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=908 | 2021-01-23T16:52:56 | {"gard": ["6464"], "mesh": ["D005600"], "omim": ["300624", "311360"], "umls": ["C0016667", "C0751156"], "icd-10": ["Q99.2"], "synonyms": ["FRAXA syndrome", "FXS", "FraX syndrome", "Martin-Bell syndrome"]} |
A number sign (#) is used with this entry because of evidence that pyruvate dehydrogenase E2 deficiency is caused by homozygous mutation in the DLAT gene (608770) on chromosome 11q23.
For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase deficiency, see 312170.
Cli... | PYRUVATE DEHYDROGENASE E2 DEFICIENCY | c0034345 | 2,981 | omim | https://www.omim.org/entry/245348 | 2019-09-22T16:26:03 | {"doid": ["3649"], "mesh": ["D015325"], "omim": ["245348"], "orphanet": ["765", "79244"], "synonyms": ["Alternative titles", "LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX"]} |
Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newb... | Isobutyryl-CoA dehydrogenase deficiency | c1969809 | 2,982 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79159 | 2021-01-23T17:31:09 | {"gard": ["10223"], "mesh": ["C535541"], "omim": ["611283"], "umls": ["C1969809"], "icd-10": ["E71.1"], "synonyms": ["Isobutyric aciduria"]} |
Oxygen shortage of the brain
For other uses, see hypoxia (disambiguation).
Cerebral hypoxia
Circle of Willis
Arteries beneath brain
SpecialtyCritical care medicine
Cerebral hypoxia is a form of hypoxia (reduced supply of oxygen), specifically involving the brain; when the brain is completely deprived of ... | Cerebral hypoxia | c1140716 | 2,983 | wikipedia | https://en.wikipedia.org/wiki/Cerebral_hypoxia | 2021-01-18T18:46:58 | {"mesh": ["D002534"], "icd-9": ["437.9"], "wikidata": ["Q2249526"]} |
A number sign (#) is used with this entry because of evidence that mutations in the NOD2/CARD15 gene (605956) are associated with susceptibility to Crohn disease in families linked to chromosome 16. A promoter polymorphism in the IL6 gene (147620) is associated with susceptibility to Crohn disease-associated grow... | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 | c0010346 | 2,984 | omim | https://www.omim.org/entry/266600 | 2019-09-22T16:22:49 | {"doid": ["0110892"], "mesh": ["D003424"], "omim": ["266600"], "icd-9": ["556.9", "556"], "icd-10": ["K50.90", "K51", "K50", "K50.9", "K51.9"]} |
Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.
## Epidemiology... | Erdheim-Chester disease | c0878675 | 2,985 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35687 | 2021-01-23T18:38:16 | {"gard": ["6369"], "mesh": ["D031249"], "umls": ["C0878675"], "icd-10": ["D76.3"]} |
Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a mor... | Myxopapillary ependymoma | c0205769 | 2,986 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251643 | 2021-01-23T16:59:13 | {"gard": ["10633"], "mesh": ["D004806"], "umls": ["C0205769"], "icd-10": ["D43.2"]} |
Hypochondroplasia is a form of skeletal disease characterized by very short stature. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with hypochondroplasia usually have very short stature, large head, accentuated lordosis, short arms and legs, and broad, short hands and feet... | Hypochondroplasia | c0410529 | 2,987 | gard | https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia | 2021-01-18T17:59:53 | {"mesh": ["C562937"], "omim": ["146000"], "umls": ["C0410529"], "orphanet": ["429"], "synonyms": ["HCH"]} |
Carcinoma in situ
Other namesin situ neoplasm
SpecialtyOncology
Carcinoma in situ (CIS) is a group of abnormal cells.[1][2] While they are a form of neoplasm,[3] there is disagreement over whether CIS should be classified as cancer. This controversy also depends on the exact CIS in question (i.e. cervical, s... | Carcinoma in situ | c0007099 | 2,988 | wikipedia | https://en.wikipedia.org/wiki/Carcinoma_in_situ | 2021-01-18T19:09:20 | {"mesh": ["D002278"], "umls": ["C0007099"], "wikidata": ["Q1035645"]} |
Dermatologic terminology
Atrophoderma refers to conditions involving skin atrophy.[1]
Types include:
* Follicular atrophoderma
* Linear atrophoderma of Moulin
* Atrophoderma of Pasini and Pierini
## References[edit]
1. ^ "Atrophoderma" at Dorland's Medical Dictionary
* v
* t
* e
Cutaneous ker... | Atrophoderma | c0151514 | 2,989 | wikipedia | https://en.wikipedia.org/wiki/Atrophoderma | 2021-01-18T18:58:34 | {"wikidata": ["Q4072263"]} |
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients presen... | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | c4707238 | 2,990 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289548 | 2021-01-23T17:42:04 | {"icd-10": ["E27.1"]} |
In psychiatry, complicated grief disorder (CGD) is a proposed disorder for those who are significantly and functionally impaired by prolonged grief symptoms for at least twelve months after the bereavement.[1] It is distinguished from non-impairing grief[2] and other disorders (such as major depressive disorder[3][4]... | Complicated grief disorder | None | 2,991 | wikipedia | https://en.wikipedia.org/wiki/Complicated_grief_disorder | 2021-01-18T18:53:56 | {"wikidata": ["Q5156653"]} |
A number sign (#) is used with this entry because susceptibility to thrombophilia (THPH1) can be conferred by heterozygous mutation in the thrombin gene (F2; 176930) on chromosome 11p11.
Description
Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, ... | THROMBOPHILIA DUE TO THROMBIN DEFECT | c3160733 | 2,992 | omim | https://www.omim.org/entry/188050 | 2019-09-22T16:32:38 | {"omim": ["188050"], "synonyms": ["Alternative titles", "THROMBOPHILIA DUE TO FACTOR 2 DEFECT", "VENOUS THROMBOSIS", "VENOUS THROMBOEMBOLISM"], "genereviews": ["NBK1148"]} |
Pelz et al. (1972) described cholesterol pneumonia in brother and sister, who died at 9.5 and 4 months, respectively. Tachypnea, cough and cyanosis were symptoms.
Pulmonary \- Cholesterol pneumonia \- Tachypnea \- Cough Inheritance \- Autosomal recessive Misc \- Death in infancy Skin \- Cyanosis ▲ Close
*[v]: ... | CHOLESTEROL PNEUMONIA | c0549472 | 2,993 | omim | https://www.omim.org/entry/215030 | 2019-09-22T16:29:44 | {"mesh": ["C535937"], "omim": ["215030"]} |
Fructose malabsorption
Other namesDietary fructose intolerance
Chemical structure of fructose
SpecialtyEndocrinology
Fructose malabsorption, formerly named dietary fructose intolerance (DFI), is a digestive disorder[1] in which absorption of fructose is impaired by deficient fructose carriers in the small ... | Fructose malabsorption | c1531694 | 2,994 | wikipedia | https://en.wikipedia.org/wiki/Fructose_malabsorption | 2021-01-18T19:02:14 | {"umls": ["C1531694"], "icd-9": ["271"], "icd-10": ["E74.3"], "wikidata": ["Q1671489"]} |
Yokkaichi asthma (四日市ぜんそく, Yokkaichi zensoku) refers to cases of chronic obstructive pulmonary disease, chronic bronchitis, pulmonary emphysema, and bronchial asthma in humans and various environmental changes usually attributed to sulfur dioxide (SO2) emissions which appeared as smog over the city of Yokkaichi i... | Yokkaichi asthma | None | 2,995 | wikipedia | https://en.wikipedia.org/wiki/Yokkaichi_asthma | 2021-01-18T19:10:43 | {"wikidata": ["Q8054567"]} |
## Description
The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studie... | DIABETES MELLITUS, INSULIN-DEPENDENT | c0011854 | 2,996 | omim | https://www.omim.org/entry/222100 | 2019-09-22T16:28:46 | {"doid": ["9744"], "mesh": ["D003922"], "omim": ["222100"], "icd-10": ["E10"], "synonyms": ["Alternative titles", "DIABETES MELLITUS, TYPE I", "JUVENILE-ONSET DIABETES"]} |
This article needs attention from an expert in medicine or Psychology. Please add a reason or a talk parameter to this template to explain the issue with the article. WikiProject Medicine or WikiProject Psychology may be able to help recruit an expert. (February 2009)
Semantic dyslexia is, as the name suggests, ... | Semantic dyslexia | None | 2,997 | wikipedia | https://en.wikipedia.org/wiki/Semantic_dyslexia | 2021-01-18T18:59:50 | {"wikidata": ["Q7449060"]} |
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, interna... | Athabaskan brainstem dysgenesis syndrome | c1832215 | 2,998 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69739 | 2021-01-23T18:59:54 | {"gard": ["8333"], "mesh": ["C535397"], "omim": ["601536"], "umls": ["C1832215"], "synonyms": ["ABSD", "Athabascan brainstem dysgenesis syndrome", "Navajo brainstem syndrome"]} |
Klebe et al. (1970), using mouse-human hybrid somatic cells in culture, found that Es-2 esterase activity was depressed. Human chromosomes are selectively lost from the hybrid cells. Depression of esterase activity was present when human chromosome 10 was present and the activity returned to normal when chromosome 10... | ESTERASE ES-2, REGULATOR FOR | c1851475 | 2,999 | omim | https://www.omim.org/entry/133300 | 2019-09-22T16:41:28 | {"omim": ["133300"]} |
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