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Neoplastic meningitis
Other namesCarcinomatous meningitis, leptomeningeal carcinoma, leptomeningeal carcinomatosis, leptomeningeal metastasis, meningeal carcinomatosis, meningeal metastasis, meningitis carcinomatosa
Meningeal carcinomatosis: tumor cell clusters in the subarachnoid space in a brain biopsy
Specia... | Leptomeningeal cancer | c0220654 | 1,600 | wikipedia | https://en.wikipedia.org/wiki/Leptomeningeal_cancer | 2021-01-18T18:35:53 | {"mesh": ["D055756"], "umls": ["C0220654"], "wikidata": ["Q1920586"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
Kimura et al. (2008) performed a genomewide association study with 23,465 microsatellite markers, applying selective genotyping to extremely tall and extremely short individuals from the Khalkh... | STATURE QUANTITATIVE TRAIT LOCUS 16 | c2675489 | 1,601 | omim | https://www.omim.org/entry/612579 | 2019-09-22T16:01:11 | {"omim": ["612579"]} |
A number sign (#) is used with this entry because hyperprolinemia type II (HYRPRO2) is caused by homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene (P5CDH; 606811) on chromosome 1p36.
For a discussion of genetic heterogeneity of hyperprolinemia, see HYRPRO1 (239500).
Clin... | HYPERPROLINEMIA, TYPE II | c2931835 | 1,602 | omim | https://www.omim.org/entry/239510 | 2019-09-22T16:26:49 | {"doid": ["0080543"], "mesh": ["C538385"], "omim": ["239510"], "orphanet": ["79101"], "synonyms": ["Alternative titles", "HPII", "1-PYRROLINE-5-CARBOXYLATE DEHYDROGENASE DEFICIENCY"]} |
Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/o... | Ring chromosome 4 syndrome | c0265407 | 1,603 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1447 | 2021-01-23T18:00:17 | {"gard": ["1339"], "mesh": ["C537636"], "umls": ["C0265407", "C2931556"], "icd-10": ["Q93.2"], "synonyms": ["Ring 4", "Ring chromosome 4", "Syndrome r(4)", "r(4) syndrome"]} |
Satchmo's syndrome
Satchmo's syndrome is a disorder due to the rupture of Orbicularis oris muscle in trumpet players.[1] This syndrome is named after the nickname of Louis Armstrong, the trumpet player from New Orleans, because apparently it fits with the symptoms he experienced in 1935.
## Pathology[edit]
In ... | Satchmo's syndrome | None | 1,604 | wikipedia | https://en.wikipedia.org/wiki/Satchmo%27s_syndrome | 2021-01-18T18:48:54 | {"wikidata": ["Q48815240"]} |
## Description
Angioma serpiginosum is an uncommon benign skin disorder characterized by asymptomatic clusters of nonpurpuric punctate erythematous lesions. The rash is asymptomatic but may lead to cosmetic problems and can be treated by laser therapy. Women are most commonly affected, and the disorder is most ofte... | ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT | c1970130 | 1,605 | omim | https://www.omim.org/entry/106050 | 2019-09-22T16:45:04 | {"doid": ["4028"], "mesh": ["C536365"], "omim": ["106050"], "orphanet": ["95429"], "synonyms": []} |
Degos disease is a rare blood vessel disorder. It is characterized by blockages of small to medium sized blood vessels. This slows or stops the flow of blood through the affected vessels. Severity of symptoms depends on the extent and location of the affected blood vessels. Some individuals with Degos disease have is... | Malignant Atrophic Papulosis | c0221011 | 1,606 | gard | https://rarediseases.info.nih.gov/diseases/6249/malignant-atrophic-papulosis | 2021-01-18T17:59:15 | {"mesh": ["D054853"], "omim": ["602248"], "umls": ["C0221011"], "orphanet": ["679"], "synonyms": ["Degos's malignant atrophic papulosis", "Atrophic papulosis, malignant", "Kohlmeier-Degos disease", "Köhlmeier-Degos disease", "Papulosis atrophican maligna", "Degos disease", "Köhlmeier-Degos-Delort-Tricort syndrome"]} |
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Find sources: "Urethritis" – news · newspapers · books · scholar · JSTOR (November 2012) (Learn how and when to remove this template m... | Urethritis | c0311389 | 1,607 | wikipedia | https://en.wikipedia.org/wiki/Urethritis | 2021-01-18T18:31:51 | {"mesh": ["D014526"], "umls": ["C0311389", "C0041976"], "wikidata": ["Q1122485"]} |
Intradermal spindle cell lipoma is distinct in that it most commonly affects women, and has a wide distribution, occurring with relatively equal frequency on the head and neck, trunk, and upper and lower extremities.[1]:625[2]
## See also[edit]
* Spindle cell lipoma
* List of cutaneous conditions
## Ref... | Intradermal spindle cell lipoma | None | 1,608 | wikipedia | https://en.wikipedia.org/wiki/Intradermal_spindle_cell_lipoma | 2021-01-18T18:48:54 | {"wikidata": ["Q16935264"]} |
A number sign (#) is used with this entry because evidence suggests that mutations in one or more genes can cause Gilles de la Tourette syndrome (GTS). See MOLECULAR GENETICS and MAPPING.
Description
Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated wit... | GILLES DE LA TOURETTE SYNDROME | c0040517 | 1,609 | omim | https://www.omim.org/entry/137580 | 2019-09-22T16:40:44 | {"doid": ["11119"], "mesh": ["D005879"], "omim": ["137580"], "icd-9": ["307.23"], "icd-10": ["F95.2"], "synonyms": ["Alternative titles", "TOURETTE SYNDROME", "TOURETTE DISORDER"]} |
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence. Achondroplasia can cause he... | Achondroplasia | c0001080 | 1,610 | gard | https://rarediseases.info.nih.gov/diseases/8173/achondroplasia | 2021-01-18T18:02:22 | {"mesh": ["D000130"], "omim": ["100800"], "orphanet": ["15"], "synonyms": ["ACH", "Achondroplastic dwarfism"]} |
Alcelaphine gammaherpesvirus 1 (AlHV-1), Ovine gammaherpesvirus 2 (OHV-2)
Virus classification
(unranked): Virus
Realm: Duplodnaviria
Kingdom: Heunggongvirae
Phylum: Peploviricota
Class: Herviviricetes
Order: Herpesvirales
Family: Herpesviridae
Genus: Macavirus
Species:
Alcelaphine gammah... | Bovine malignant catarrhal fever | c0276241 | 1,611 | wikipedia | https://en.wikipedia.org/wiki/Bovine_malignant_catarrhal_fever | 2021-01-18T18:55:59 | {"mesh": ["D008304"], "wikidata": ["Q552330"]} |
Fitzsimmons–Guilbert syndrome
Other namesParaplegia-brachydactyly-cone-shaped epiphysis syndrome
Fitzsimmons–Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiph... | Fitzsimmons–Guilbert syndrome | c0795942 | 1,612 | wikipedia | https://en.wikipedia.org/wiki/Fitzsimmons%E2%80%93Guilbert_syndrome | 2021-01-18T18:43:03 | {"gard": ["2343"], "mesh": ["C537938"], "umls": ["C0795942"], "orphanet": ["2823"], "wikidata": ["Q5455731"]} |
A number sign (#) is used with this entry because of evidence that combined lipase deficiency with severe hypertriglyceridemia is caused by homozygous mutation in the LMF1 gene (611761) on chromosome 16p13.
Clinical Features
Auwerx et al. (1990) described a large family with familial hepatic triglyceride lipase... | LIPASE DEFICIENCY, COMBINED | c1855498 | 1,613 | omim | https://www.omim.org/entry/246650 | 2019-09-22T16:25:48 | {"mesh": ["C535904"], "omim": ["246650"], "orphanet": ["535453"], "synonyms": ["LIPOPROTEIN LIPASE DEFICIENCY WITH HEPATIC TRIGLYCERIDE LIPASE DEFICIENCY", "Familial LMF1 deficiency", "Alternative titles", "LPL AND HTGL DEFICIENCY", "LPL AND HL DEFICIENCY"]} |
A number sign (#) is used with this entry because medulloblastoma can be caused by germline mutations in the SUFU gene (607035) on chromosome 10q and the BRCA2 gene (600185) on chromosome 3p.
Somatic mutations in several genes have been found in sporadic cases of medulloblastoma. These genes include PTCH2 (603673) o... | MEDULLOBLASTOMA | c0025149 | 1,614 | omim | https://www.omim.org/entry/155255 | 2019-09-22T16:38:30 | {"doid": ["0050902"], "mesh": ["D008527"], "omim": ["155255"], "orphanet": ["616", "251858", "251863", "251867"]} |
A number sign (#) is used with this entry because of evidence that familial platelet disorder with associated myeloid malignancy (FPDMM) is caused by heterozygous mutation in the hematopoietic transcription factor CBFA2 (RUNX1; 151385) on chromosome 21q22.
Clinical Features
Dowton et al. (1985) described a large pe... | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | c1832388 | 1,615 | omim | https://www.omim.org/entry/601399 | 2019-09-22T16:14:52 | {"mesh": ["C563324"], "omim": ["601399"], "orphanet": ["71290"], "synonyms": ["Alternative titles", "PLATELET DISORDER, ASPIRIN-LIKE", "THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA"]} |
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger... | Velo-facial-skeletal syndrome | c1833380 | 1,616 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3424 | 2021-01-23T19:12:59 | {"gard": ["5469"], "mesh": ["C536536"], "omim": ["600736"], "umls": ["C1833380"], "icd-10": ["Q87.0"]} |
A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-19 with or without polydactyly (SRTD19) is caused by compound heterozygous mutation in the IFT81 gene (605489) on chromosome 12q24.
Description
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a ... | SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY | c4693524 | 1,617 | omim | https://www.omim.org/entry/617895 | 2019-09-22T15:44:28 | {"omim": ["617895"]} |
A number sign (#) is used with this entry because pseudopseudohypoparathyroidism (PPHP) is caused by a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene (139320) on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.
See also pseudohypo... | PSEUDOPSEUDOHYPOPARATHYROIDISM | c0033835 | 1,618 | omim | https://www.omim.org/entry/612463 | 2019-09-22T16:01:22 | {"doid": ["4183"], "mesh": ["D011556"], "omim": ["612463"], "orphanet": ["79445"], "synonyms": ["Alternative titles", "ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE"], "genereviews": ["NBK459117"]} |
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD)
Other namesCarnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency,[1] MCAD deficiency or MCADD
This condition is inherited in an autosomal recessive manner.
SpecialtyEndocrinology
Medium-chain acyl-CoA dehydrogenase defi... | Medium-chain acyl-coenzyme A dehydrogenase deficiency | c0220710 | 1,619 | wikipedia | https://en.wikipedia.org/wiki/Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency | 2021-01-18T19:03:59 | {"gard": ["540"], "mesh": ["C536038"], "umls": ["C0220710"], "icd-9": ["277.85"], "icd-10": ["E71.311"], "orphanet": ["42"], "wikidata": ["Q750826"]} |
Carcinosis, or carcinomatosis, is disseminated cancer, forms of metastasis, whether used generally or in specific patterns of spread.
## Contents
* 1 Usage
* 2 Lung
* 2.1 Lymphangitic carcinomatosis
* 2.2 Miliary carcinosis
* 3 Body cavities
* 3.1 Peritoneal carcinomatosis
* 3.2 Pleural ca... | Carcinosis | c0205699 | 1,620 | wikipedia | https://en.wikipedia.org/wiki/Carcinosis | 2021-01-18T18:36:22 | {"mesh": ["D002277"], "umls": ["C0205699"], "wikidata": ["Q837583"]} |
Acute exacerbation of chronic obstructive pulmonary disease
Other namesAcute exacerbations of chronic bronchitis (AECB)
Chest X-ray in a case of COPD exacerbation where a nasopharyngeal swab detected Haemophilus influenzae, with right-sided opacities.
SpecialtyRespirology, emergency medicine
An acute exace... | Acute exacerbation of chronic obstructive pulmonary disease | c0340044 | 1,621 | wikipedia | https://en.wikipedia.org/wiki/Acute_exacerbation_of_chronic_obstructive_pulmonary_disease | 2021-01-18T18:29:57 | {"wikidata": ["Q4677923"]} |
In psychology, false memory syndrome (FMS) describes a condition in which a person's identity and relationships are affected by false memories, recollections that are factually incorrect but yet are strongly believed.[1] Peter J. Freyd originated the term,[2] which his False Memory Syndrome Foundation (FMSF) subs... | False memory syndrome | c0376365 | 1,622 | wikipedia | https://en.wikipedia.org/wiki/False_memory_syndrome | 2021-01-18T18:43:12 | {"mesh": ["D012094"], "wikidata": ["Q195961"]} |
A number sign (#) is used with this entry because of evidence that congenital microcoria is caused by contiguous gene deletion at chromosome 13q32.
Description
Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils (diameter less than 2 mm) that result... | MICROCORIA, CONGENITAL | c1303009 | 1,623 | omim | https://www.omim.org/entry/156600 | 2019-09-22T16:38:15 | {"mesh": ["C537550"], "omim": ["156600"], "orphanet": ["566"], "synonyms": ["Alternative titles", "CHROMOSOME 13q32 DELETION SYNDROME", "MCOR", "MIOSIS, CONGENITAL"]} |
Epidermolytic acanthoma
Epidermolytic acanthoma
Epidermolytic acanthomas are a cutaneous condition characterized by discrete keratotic papules in adults.[1]
## See also[edit]
* Dermatosis papulosa nigra
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jori... | Epidermolytic acanthoma | c1333414 | 1,624 | wikipedia | https://en.wikipedia.org/wiki/Epidermolytic_acanthoma | 2021-01-18T19:02:44 | {"umls": ["C1333414"], "wikidata": ["Q5382850"]} |
Glutaric acidemia type I (GA1) is a genetic metabolic disorder. People with GA1 don't make enough of one of the enzymes needed to break down certain amino acids found in the proteins we eat. Without enough of the enzyme, the breakdown products of these amino acids build up in tissues of the body. The buildup of t... | Glutaric acidemia type I | c0268595 | 1,625 | gard | https://rarediseases.info.nih.gov/diseases/6522/glutaric-acidemia-type-i | 2021-01-18T18:00:17 | {"mesh": ["C536833"], "omim": ["231670"], "umls": ["C0268595"], "orphanet": ["25"], "synonyms": ["Glutaric acidemia type 1", "Glutaric acidemia 1", "Glutaric aciduria 1", "GA 1", "Glutaryl-CoA dehydrogenase deficiency"]} |
Salmon patch on the left upper eyelid of a neonate.
Midline nevus flammeus (also known as salmon patch and "angel's kiss") is a vascular birthmark which may be found on the glabellar region or on one upper eyelid, and presents in approximately 15% of newborns.[1][2]
## See also[edit]
* List of cutaneous conditio... | Midline nevus flammeus | c1854409 | 1,626 | wikipedia | https://en.wikipedia.org/wiki/Midline_nevus_flammeus | 2021-01-18T18:36:53 | {"umls": ["C1854409"], "wikidata": ["Q6842569"]} |
Transfer of legally prescribed controlled pharmaceuticals to other individuals
Drug diversion is a medical and legal concept involving the transfer of any legally prescribed controlled substance from the individual for whom it was prescribed to another person for any illicit use.[1][2] The definition varies slig... | Drug diversion | None | 1,627 | wikipedia | https://en.wikipedia.org/wiki/Drug_diversion | 2021-01-18T18:43:56 | {"mesh": ["D064226"], "wikidata": ["Q5308890"]} |
Greenberg dysplasia is a very severe disorder that that affects the bones. It is called a skeletal dysplasia because the bones do not develop properly. This condition is sometimes called HEM based on the main features of Hydrops fetalis, Ectopic calcifications, and "Moth-eaten" appearance of the skeleton. Greenberg d... | Greenberg dysplasia | c2931048 | 1,628 | gard | https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia | 2021-01-18T18:00:12 | {"mesh": ["C535858"], "omim": ["215140"], "orphanet": ["1426"], "synonyms": ["Hydrops-ectopic calcification-motheaten syndrome", "Skeletal dysplasia, Greenberg type", "HEM", "Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia", "HEM dysplasia", "HEM/Greenberg dysplasia", "Greenberg skeletal dysplasia", "Auto... |
For a phenotypic description and a discussion of heterogeneity of keratoconus, see 148300.
Mapping
Hutchings et al. (2005) performed genomewide linkage analysis in 28 families with keratoconus recruited in France, Spain, and Guadeloupe (West Indies), representing a mixed, outbred population (Caucasian, Arab, and Ca... | KERATOCONUS 4 | c1836473 | 1,629 | omim | https://www.omim.org/entry/609271 | 2019-09-22T16:06:20 | {"mesh": ["C563752"], "omim": ["609271"]} |
Allopurinol hypersensitivity syndrome
Allopurinol
Allopurinol hypersensitivity syndrome typically occurs in persons with preexisting kidney failure.[1]:119 Weeks to months after allopurinol is begun, the patient develops a morbilliform eruption[1]:119 or, less commonly, develops one of the far more serious and... | Allopurinol hypersensitivity syndrome | c3839950 | 1,630 | wikipedia | https://en.wikipedia.org/wiki/Allopurinol_hypersensitivity_syndrome | 2021-01-18T18:28:49 | {"icd-9": ["E944.7"], "icd-10": ["Y54.8"], "wikidata": ["Q4733137"]} |
Missouri Lyme disease
SpecialtyDermatology
Missouri Lyme disease is a cutaneous condition. The cause of ‘Missouri Lyme disease’ has been a source of controversy. True Lyme disease probably occurs in Missouri and other southern states, although Lyme disease-like illnesses not related to Borrelia burgdorferi... | Missouri Lyme disease | None | 1,631 | wikipedia | https://en.wikipedia.org/wiki/Missouri_Lyme_disease | 2021-01-18T18:43:35 | {"wikidata": ["Q6879590"]} |
Trevor disease
Other namesDysplasia epiphysealis hemimelica
Trevor disease in a 9 yr old girl: Talus
SpecialtyMedical genetics
Trevor disease, also known as dysplasia epiphysealis hemimelica and Trevor's disease, is a congenital bone developmental disorder. There is 1 case per million population. The c... | Trevor disease | c0432282 | 1,632 | wikipedia | https://en.wikipedia.org/wiki/Trevor_disease | 2021-01-18T19:00:09 | {"gard": ["2019"], "mesh": ["C537997"], "umls": ["C0432282"], "icd-10": ["Q74.8"], "orphanet": ["1822"], "wikidata": ["Q7839508"]} |
Silverman et al. (1968) observed 2 children, brother and sister, who developed dyspnea, cyanosis and digital clubbing 11 and 18 months after episodes of hepatitis. Pulmonary arteriovenous fistulae too small to be demonstrated by angiography were postulated.
Skel \- Digital clubbing Respiratory \- Dyspnea Inhe... | CYANOSIS AND HEPATIC DISEASE | c1857443 | 1,633 | omim | https://www.omim.org/entry/219400 | 2019-09-22T16:29:06 | {"mesh": ["C565660"], "omim": ["219400"]} |
Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth.
*[v]: View this template
*[t]: Discuss this template
*[e]... | Osgood-Schlatter disease | c0029376 | 1,634 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97335 | 2021-01-23T17:56:45 | {"mesh": ["D055034"], "umls": ["C0029376"], "icd-10": ["M93.2"], "synonyms": ["Aseptic necrosis of the tibial tubercle", "Osteochondrosis of the tibial tubercle"]} |
FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, consti... | FG syndrome | c0220769 | 1,635 | gard | https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome | 2021-01-18T18:00:29 | {"mesh": ["C537923"], "omim": ["305450", "300321", "300406", "300422", "300581"], "umls": ["C0220769"], "orphanet": ["323"], "synonyms": ["FGS", "Opitz-Kaveggia syndrome", "FGS1", "Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum", "Keller syndrome"]} |
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis... | HEC syndrome | c1833607 | 1,636 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2119 | 2021-01-23T18:19:26 | {"gard": ["2620"], "mesh": ["C535855"], "omim": ["600559"], "umls": ["C1833607"], "icd-10": ["Q87.8"], "synonyms": ["Hydrocephalus-endocardial fibroelastosis-cataract syndrome"]} |
A number sign (#) is used with this entry because single-nucleotide polymorphisms (SNPs) in the nicotinic acetylcholine receptor gene cluster on chromosome 15q25.1, represented by SNPs in the CHRNA3 (118503) and CHRNA5 (118505) genes, have been associated with susceptibility to smoking-related behavioral traits and l... | SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 | c2677571 | 1,637 | omim | https://www.omim.org/entry/612052 | 2019-09-22T16:02:28 | {"omim": ["612052"], "synonyms": ["Alternative titles", "NICOTINE DEPENDENCE, SUSCEPTIBILITY TO"]} |
Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swellin... | Complex regional pain syndrome | c0458219 | 1,638 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83452 | 2021-01-23T17:12:31 | {"gard": ["4647"], "mesh": ["D020918"], "omim": ["604335"], "umls": ["C0458219"], "icd-10": ["G56.4", "M89.0"]} |
Restrictive lung disease
Other namesRestrictive ventilatory defect[1]
SpecialtyPulmonology
Restrictive lung diseases are a category of extrapulmonary, pleural, or parenchymal respiratory diseases that restrict lung expansion,[2] resulting in a decreased lung volume, an increased work of breathing, and inadeq... | Restrictive lung disease | c0085581 | 1,639 | wikipedia | https://en.wikipedia.org/wiki/Restrictive_lung_disease | 2021-01-18T19:02:01 | {"umls": ["C0085581"], "icd-9": ["518.89"], "wikidata": ["Q7316336"]} |
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the ... | Lethal hemolytic anemia-genital anomalies syndrome | c1838120 | 1,640 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1046 | 2021-01-23T18:02:52 | {"mesh": ["C563935"], "omim": ["600461"], "umls": ["C1838120"], "icd-10": ["D58.8"], "synonyms": ["Water-West syndrome"]} |
A number sign (#) is used with this entry because of evidence that Char syndrome (CHAR) is caused by heterozygous mutation in the TFAP2B (601601) gene on chromosome 6p12.
Clinical Features
Davidson (1993) described a large family in which 9 members in 6 sibships in 3 generations had patent ductus arteriosus (PDA; s... | CHAR SYNDROME | c1868570 | 1,641 | omim | https://www.omim.org/entry/169100 | 2019-09-22T16:36:31 | {"doid": ["0060563"], "mesh": ["C566815"], "omim": ["169100"], "orphanet": ["46627"], "synonyms": ["Alternative titles", "PATENT DUCTUS ARTERIOSUS WITH FACIAL DYSMORPHISM AND ABNORMAL FIFTH DIGITS"], "genereviews": ["NBK1106"]} |
Despite decreasing HIV prevalence nationwide, Haiti still remains one of the most HIV infected nations in the Caribbean.[1]
With an estimated 150,000 people living with HIV/AIDS in 2016 (or an approximately 2.1 percent prevalence rate among adults aged 15–49), Haiti has the most overall cases of HIV/AIDS in the Cari... | HIV/AIDS in Haiti | None | 1,642 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Haiti | 2021-01-18T18:38:02 | {"wikidata": ["Q5629848"]} |
Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at bi... | Pendred syndrome | c0271829 | 1,643 | gard | https://rarediseases.info.nih.gov/diseases/4271/pendred-syndrome | 2021-01-18T17:58:23 | {"mesh": ["C536648"], "omim": ["274600"], "umls": ["C0271829"], "orphanet": ["705"], "synonyms": ["PDS", "Deafness with goiter", "Goiter-deafness syndrome", "Autosomal recessive sensorineural hearing impairment and goiter"]} |
A number sign (#) is used with this entry because split-hand/foot malformation-4 (SHFM4) is caused by heterozygous mutation in the tumor protein p63 gene (TP63; 603273) on chromosome 3q28.
Description
Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting ... | SPLIT-HAND/FOOT MALFORMATION 4 | c0265554 | 1,644 | omim | https://www.omim.org/entry/605289 | 2019-09-22T16:11:25 | {"doid": ["0090023"], "mesh": ["C574275"], "omim": ["605289"], "orphanet": ["2440"], "genereviews": ["NBK43797"]} |
Abnormal number or structure of chromosomes
A chromosomal disorder, chromosomal anomaly, chromosomal aberration, or chromosomal mutation is a missing, extra, or irregular portion of chromosomal DNA.[1] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as str... | Chromosome abnormality | c0948447 | 1,645 | wikipedia | https://en.wikipedia.org/wiki/Chromosome_abnormality | 2021-01-18T18:37:35 | {"mesh": ["D002869"], "umls": ["C0948447"], "orphanet": ["68335"], "wikidata": ["Q744962"]} |
Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and female... | Limb-girdle muscular dystrophy | c0686353 | 1,646 | gard | https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy | 2021-01-18T17:59:24 | {"mesh": ["D049288"], "orphanet": ["263"], "synonyms": ["Limb girdle muscular dystrophy", "LGMD"]} |
Small-cell carcinoma
Other namesSmall-cell lung cancer, or Oat-cell carcinoma
Micrograph of a small-cell carcinoma of the lung showing cells with nuclear moulding, minimal amount of cytoplasm and stippled chromatin. FNA specimen. Field stain.
SpecialtyOncology
Small-cell carcinoma is a type of highly malig... | Small-cell carcinoma | c0262584 | 1,647 | wikipedia | https://en.wikipedia.org/wiki/Small-cell_carcinoma | 2021-01-18T19:08:39 | {"mesh": ["D018288"], "umls": ["C0334239", "C0262584"], "wikidata": ["Q738170"]} |
ADNP syndrome is a condition that causes a wide variety of signs and symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, which is characterized by impaired communication and social interaction. Affected individuals also have distinctive facial features and abnormalities of mu... | ADNP syndrome | c4014538 | 1,648 | medlineplus | https://medlineplus.gov/genetics/condition/adnp-syndrome/ | 2021-01-27T08:25:11 | {"gard": ["12931"], "omim": ["615873"], "synonyms": []} |
Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipo... | Familial multiple lipomatosis | c3489413 | 1,649 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199276 | 2021-01-23T18:48:29 | {"gard": ["12925"], "mesh": ["D008067"], "omim": ["151900"], "umls": ["C3489413"], "icd-10": ["E88.2"]} |
For broader coverage of this topic, see Photosensitivity.
Light sensitivity or photosensitivity refers to a notable or increased reactivity to light. Apart from vision, human beings have many physiological and psychological responses to light. In rare individuals an atypical response may result in serious discomfort... | Photosensitivity in humans | c0031762 | 1,650 | wikipedia | https://en.wikipedia.org/wiki/Photosensitivity_in_humans | 2021-01-18T19:06:09 | {"mesh": ["D010787"], "wikidata": ["Q2944236"]} |
Solid pseudopapillary carcinoma of the pancreas is a rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has lo... | Solid pseudopapillary carcinoma of pancreas | c1336029 | 1,651 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424065 | 2021-01-23T18:04:08 | {"icd-10": ["C25.0", "C25.1", "C25.2", "C25.7", "C25.8"], "synonyms": ["Pancreatic solid pseudopapillary carcinoma", "Solid pseudopapillary neoplasm of the pancreas"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Malgaigne's fracture" – news · newspapers ... | Malgaigne's fracture | c1397723 | 1,652 | wikipedia | https://en.wikipedia.org/wiki/Malgaigne%27s_fracture | 2021-01-18T18:39:38 | {"umls": ["C1397723"], "wikidata": ["Q20707195"]} |
Atypical polypoid adenomyoma
Micrograph of an atypical polypoid adenomyoma. H&E stain.
SpecialtyPathology
Atypical polypoid adenomyoma (APA) is a rare uncommon benign tumour of the uterus.[1]
## Contents
* 1 Pathology
* 2 See also
* 3 References
## Pathology[edit]
APAs are characterized by glan... | Atypical polypoid adenomyoma | c1300347 | 1,653 | wikipedia | https://en.wikipedia.org/wiki/Atypical_polypoid_adenomyoma | 2021-01-18T18:33:24 | {"umls": ["C1300347"], "wikidata": ["Q4818893"]} |
## Summary
### Clinical characteristics.
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as... | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer | None | 1,654 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1247/ | 2021-01-18T21:40:26 | {"synonyms": ["HBOC"]} |
Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms us... | Myotonic dystrophy type 2 | c2931689 | 1,655 | gard | https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2 | 2021-01-18T17:58:49 | {"mesh": ["D009223"], "omim": ["602668"], "orphanet": ["606"], "synonyms": ["Dystrophia myotonica type 2", "DM2", "Proximal myotonic myopathy", "PROMM", "Myotonic myopathy, proximal", "Ricker syndrome"]} |
Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in appro... | Somatostatinoma | c0037661 | 1,656 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97283 | 2021-01-23T17:03:55 | {"gard": ["4900"], "mesh": ["D013005"], "umls": ["C0037661"], "icd-10": ["E16.8"]} |
A number sign (#) is used with this entry because of evidence that platelet-type bleeding disorder-22 (BDPLT22) is caused by homozygous mutation in the EPHB2 gene (600997) on chromosome 1p36. One such family has been reported.
Description
Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleedi... | BLEEDING DISORDER, PLATELET-TYPE, 22 | None | 1,657 | omim | https://www.omim.org/entry/618462 | 2019-09-22T15:41:47 | {"omim": ["618462"]} |
Progression of a Histocytoma on a French Bulldog Ear -2 months time
A histiocytoma on the ear of a dog
Canine Cutaneous Histiocytoma on a young boxer dog
A histiocytoma in the dog is a benign tumor. It is an abnormal growth in the skin of histiocytes (histiocytosis), a cell that is part of the immune system. A sim... | Histiocytoma (dog) | None | 1,658 | wikipedia | https://en.wikipedia.org/wiki/Histiocytoma_(dog) | 2021-01-18T18:30:01 | {"wikidata": ["Q5773037"]} |
Klippel-Trenaunay syndrome (KTS) is a syndrome that affects the development of blood vessels, soft tissues, and bones. This syndrome has three characteristic features: a red birthmark called a port-wine stain, overgrowth of soft tissues and bones, and vein malformations such as varicose veins or malformations of deep... | Klippel-Trenaunay syndrome | c0022739 | 1,659 | gard | https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome | 2021-01-18T17:59:35 | {"mesh": ["D007715"], "omim": ["149000"], "orphanet": ["2346"], "synonyms": ["Klippel Trenaunay syndrome", "Klippel-Trenaunay-Weber syndrome", "KTW syndrome", "Weber-Klippel-Trenaunay", "Angio-osteohypertrophy syndrome", "KTS", "Klippel-Trénaunay-Weber syndrome"]} |
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability ... | Mandibulofacial dysostosis with microcephaly | c1864652 | 1,660 | gard | https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly | 2021-01-18T17:59:15 | {"mesh": ["C537405"], "omim": ["610536"], "umls": ["C1864652"], "orphanet": ["79113"], "synonyms": ["Mandibulofacial dysostosis, Guion-Almeida type", "MFDGA", "MFDM", "Mandibulofacial dysostosis-microcephaly syndrome", "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate", ... |
This article may be confusing or unclear to readers. Please help us clarify the article. There might be a discussion about this on the talk page. (December 2011) (Learn how and when to remove this template message)
TAN syndrome
SpecialtyDermatology
Tegumental angiomyxoma-neurothekeoma (TAN syndrome)[1] is... | TAN syndrome | None | 1,661 | wikipedia | https://en.wikipedia.org/wiki/TAN_syndrome | 2021-01-18T18:35:38 | {"wikidata": ["Q7669314"]} |
Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. These brain malfo... | Miller-Dieker syndrome | c0265219 | 1,662 | medlineplus | https://medlineplus.gov/genetics/condition/miller-dieker-syndrome/ | 2021-01-27T08:24:51 | {"gard": ["3669"], "mesh": ["D054221"], "omim": ["247200"], "synonyms": []} |
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is th... | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome | c1845450 | 1,663 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85280 | 2021-01-23T19:11:38 | {"mesh": ["C564510"], "omim": ["300471"], "umls": ["C1845450"], "icd-10": ["Q87.8"]} |
Subclavian steal syndrome
Other namesSubclavian steal phenomenon or Subclavian steal steno-occlusive disease
The proximal part of left subclavian is blocked on left side so no flow in vertebral and to left arm. Blood from right vertebral enters left vertebral and flows back to supply left arm
SpecialtyNeurology... | Subclavian steal syndrome | c0038531 | 1,664 | wikipedia | https://en.wikipedia.org/wiki/Subclavian_steal_syndrome | 2021-01-18T19:04:11 | {"mesh": ["D013349"], "umls": ["C0038531"], "icd-10": ["G45.8"], "wikidata": ["Q742099"]} |
Branch retinal vein occlusion
Branch retinal vein occlusion
SpecialtyNeurology
Branch retinal vein occlusion is a common retinal vascular disease of the elderly. It is caused by the occlusion of one of the branches of central retinal vein.[1]
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* ... | Branch retinal vein occlusion | c0154842 | 1,665 | wikipedia | https://en.wikipedia.org/wiki/Branch_retinal_vein_occlusion | 2021-01-18T18:52:44 | {"umls": ["C0154842"], "wikidata": ["Q4956400"]} |
A number sign (#) is used with this entry because of evidence that various conotruncal heart malformations can be caused by mutation in one of several genes. A mutation in the TBX1 gene (602054) has been found in individuals with conotruncal anomaly face syndrome (CAFS). Mutation in the NKX2-6 gene (611770) has b... | CONOTRUNCAL HEART MALFORMATIONS | c1857586 | 1,666 | omim | https://www.omim.org/entry/217095 | 2019-09-22T16:29:27 | {"doid": ["6406"], "mesh": ["C535464"], "omim": ["217095"], "icd-9": ["745.0", "747.11", "745.11"], "icd-10": ["Q25.21", "Q20.0", "Q20.1"], "orphanet": ["2445", "3426", "3384"]} |
A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inher... | Roussy-Lévy syndrome | c0205713 | 1,667 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3115 | 2021-01-23T18:08:37 | {"gard": ["4741"], "mesh": ["D002607"], "omim": ["180800"], "umls": ["C0205713"], "icd-10": ["G60.0"], "synonyms": ["Hereditary areflexic dystasia, Roussy-Lévy type"]} |
A number sign (#) is used with this entry because of evidence that hypomyelinating leukodystrophy-13 (HLD13) is caused by homozygous mutation in the HIKESHI gene (614908) on chromosome 11q14.
Description
Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantil... | LEUKODYSTROPHY, HYPOMYELINATING, 13 | c4225170 | 1,668 | omim | https://www.omim.org/entry/616881 | 2019-09-22T15:47:33 | {"doid": ["0060795"], "omim": ["616881"], "orphanet": ["495844"], "synonyms": ["C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy", "Hypomyelinating leukodystrophy due to hikeshi deficiency"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive Robinow syndrome-2 (RRS2) is caused by homozygous or compound heterozygous mutation in the NXN gene (612895) on chromosome 17p13.
Description
Autosomal recessive Robinow syndrome-2 is a skeletal dysplasia characterized by postnat... | ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 | None | 1,669 | omim | https://www.omim.org/entry/618529 | 2019-09-22T15:41:33 | {"omim": ["618529"]} |
Acyanotic heart defect
Other namesNon-cyanotic heart defect
Ventricular septum
SpecialtyCardiology
An acyanotic heart defect, is a class of congenital heart defects. In these, blood is shunted (flows) from the left side of the heart to the right side of the heart, most often due to a structural defect (hol... | Acyanotic heart defect | c0265807 | 1,670 | wikipedia | https://en.wikipedia.org/wiki/Acyanotic_heart_defect | 2021-01-18T18:31:54 | {"umls": ["C0265807"], "wikidata": ["Q4677976"]} |
Extravasation of urine
SpecialtyUrology
Extravasation of urine refers to the condition where an interruption of the urethra leads to a collection of urine in other cavities, such as the scrotum or the penis in males. It can be associated with a calculus.[citation needed]
## Contents
* 1 Mechanism
* 2... | Extravasation of urine | c0152245 | 1,671 | wikipedia | https://en.wikipedia.org/wiki/Extravasation_of_urine | 2021-01-18T18:53:54 | {"umls": ["C0152245"], "icd-10": ["R39.0"], "wikidata": ["Q5422284"]} |
Coffin–Lowry syndrome
X-linked dominant inheritence
SpecialtyMedical genetics
Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and vis... | Coffin–Lowry syndrome | c0795900 | 1,672 | wikipedia | https://en.wikipedia.org/wiki/Coffin%E2%80%93Lowry_syndrome | 2021-01-18T18:35:22 | {"gard": ["8589", "6123"], "mesh": ["C536435", "D038921"], "umls": ["C0795900"], "icd-9": ["759.89"], "icd-10": ["Q87.8"], "orphanet": ["192"], "wikidata": ["Q1106881"]} |
See 163800 for a discussion of disturbance of the sinoatrial node, including the so-called sick sinus syndrome (SSS). Onat (1986) described SSS in father, daughter and son. The 2 elder affected persons had severe degenerative myopia. It was suggested that the youngest affected person, still under age 7 years, mig... | SINUS NODE DISEASE AND MYOPIA | c0037052 | 1,673 | omim | https://www.omim.org/entry/182190 | 2019-09-22T16:34:52 | {"mesh": ["D012804"], "omim": ["182190"], "orphanet": ["166282"], "synonyms": ["Alternative titles", "SICK SINUS SYNDROME AND MYOPIA", "SSS-MYOPIA SYNDROME"]} |
Feline odontoclastic resorptive lesions on a molar.
Feline Tooth Resorption (TR) is a syndrome in cats characterized by resorption of the tooth by odontoclasts, cells similar to osteoclasts. TR has also been called "feline odontoclastic resorption lesion" (FORL), neck lesion, cervical neck lesion, cervical line eros... | Feline odontoclastic resorptive lesion | None | 1,674 | wikipedia | https://en.wikipedia.org/wiki/Feline_odontoclastic_resorptive_lesion | 2021-01-18T18:54:37 | {"wikidata": ["Q1389389"]} |
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
## Epidemiology
Although BFIE cases have been reported worldwide, prevalence and incidence remain unknown. In an Arg... | Benign familial infantile epilepsy | c0220669 | 1,675 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306 | 2021-01-23T19:02:20 | {"gard": ["856", "857"], "mesh": ["D020936"], "omim": ["601764", "605751", "607745", "612627", "617080"], "umls": ["C0220669"], "icd-10": ["G40.3"], "synonyms": ["BFIE", "BFIS", "Benign familial infantile convulsions", "Benign familial infantile seizures"]} |
Sideroblastic anemia
A ring sideroblast visualized by Prussian blue stain
SpecialtyHematology
Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).[1] In sideroblastic anemia, the body has... | Sideroblastic anemia | c0002896 | 1,676 | wikipedia | https://en.wikipedia.org/wiki/Sideroblastic_anemia | 2021-01-18T18:49:35 | {"gard": ["667"], "mesh": ["D000756"], "umls": ["C0002896"], "orphanet": ["1047"], "wikidata": ["Q2610084"]} |
Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
## Epidemiology
To date, less than 10 cases have been described in the literature.
## Clinical description
... | Blomstrand lethal chondrodysplasia | c1859148 | 1,677 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=50945 | 2021-01-23T18:50:21 | {"gard": ["914"], "mesh": ["C537914"], "omim": ["215045"], "umls": ["C1859148"], "icd-10": ["Q78.8"], "synonyms": ["BLC", "BOCD", "Blomstrand chondrodysplasia", "Blomstrand osteochondrodysplasia", "Chondrodysplasia, Blomstrand type"]} |
Bodily responses to the functional effects of ethanol in alcoholic beverages
Beer Street and Gin Lane by William Hogarth, 1751, detailing the Gin Craze in UK cities during the early Industrial Revolution.
Alcohol tolerance refers to the bodily responses to the functional effects of ethanol in alcoholic beverages. T... | Alcohol tolerance | c0556369 | 1,678 | wikipedia | https://en.wikipedia.org/wiki/Alcohol_tolerance | 2021-01-18T18:56:50 | {"umls": ["C0556369"], "wikidata": ["Q4713312"]} |
B-cell growth factor is released by T lymphocytes after either lectin or antigen stimulation as a protein of Mr 12,000-14,000. Sahasrabuddhe et al. (1984) demonstrated that this relatively small molecule is derived from a precursor molecule of Mr 60,000-80,000 which exists in an intracytoplasmic pool in the T cel... | B-CELL GROWTH FACTOR | None | 1,679 | omim | https://www.omim.org/entry/109540 | 2019-09-22T16:44:28 | {"omim": ["109540"], "synonyms": ["Alternative titles", "B-CELL GROWTH FACTOR 1"]} |
Restrictive dermopathy
Other namesHyperkeratosis-contracture syndrome, Lethal restrictive dermopathy
Restrictive dermopathy is inherited in an autosomal recessive manner[1]
SpecialtyMedical genetics
Restrictive dermopathy (RD) is a rare, lethal autosomal recessive skin condition characterized by syndromic ... | Restrictive dermopathy | c0406585 | 1,680 | wikipedia | https://en.wikipedia.org/wiki/Restrictive_dermopathy | 2021-01-18T18:37:59 | {"gard": ["1516"], "mesh": ["C536920"], "umls": ["C0406585"], "orphanet": ["1662"], "wikidata": ["Q7316329"]} |
Ord's disease
SpecialtyEndocrinology
Ord's thyroiditis is a common form of thyroiditis, an autoimmune disease where the body's own antibodies fight the cells of the thyroid.
It is named after the physician, William Miller Ord, who first described it in 1877 and again in 1888. It is more common among women... | Ord's thyroiditis | None | 1,681 | wikipedia | https://en.wikipedia.org/wiki/Ord%27s_thyroiditis | 2021-01-18T18:58:28 | {"icd-9": ["245.8"], "icd-10": ["E06.5"], "wikidata": ["Q7100346"]} |
Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in... | Nasolacrimal duct cyst | c0155241 | 1,682 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141083 | 2021-01-23T19:03:42 | {"umls": ["C0155241"], "icd-10": ["H04.6"], "synonyms": ["Dacryocele", "Dacryocystocele", "Nasolacrimal mucocele"]} |
Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype... | Charcot-Marie-Tooth disease type 4B3 | c3695063 | 1,683 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363981 | 2021-01-23T18:07:33 | {"omim": ["615284"], "icd-10": ["G60.0"], "synonyms": ["CMT4B3", "Charcot-Marie-Tooth disease with focally folded myelin"]} |
## Clinical Features
Beutler et al. (1985) found a family segregating for partial deficiency of 6-phosphogluconolactonase (PGLS; 604951) as an autosomal dominant trait. Hemolytic anemia occurred in a 14-month-old girl who was heterozygous for G6PD deficiency of nonhemolytic type and for 6PGL deficiency. The authors... | 6-PHOSPHOGLUCONOLACTONASE DEFICIENCY | c1868355 | 1,684 | omim | https://www.omim.org/entry/172150 | 2019-09-22T16:36:17 | {"mesh": ["C566803"], "omim": ["172150"], "synonyms": ["Alternative titles", "PGLS DEFICIENCY", "6PGL DEFICIENCY"]} |
MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, or muscle stiffness (rigidity). Individuals with MEC... | MECP2 duplication syndrome | c1846058 | 1,685 | medlineplus | https://medlineplus.gov/genetics/condition/mecp2-duplication-syndrome/ | 2021-01-27T08:24:51 | {"gard": ["9781"], "mesh": ["C537723"], "omim": ["300260"], "synonyms": []} |
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This article needs addit... | Abortion in Argentina | None | 1,686 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Argentina | 2021-01-18T18:51:22 | {"wikidata": ["Q8184130"]} |
A Dolichodouglas (word derived from ancient Greek Δόλιχος (dolichos), the long distance in running and the Douglas' pouch) is the medical term describing an abnormally profound Douglas' pouch (recto-uterine pouch). It may be congenital or acquired. The increased depth of the Douglas' pouch brings it in close anat... | Dolichodouglas | None | 1,687 | wikipedia | https://en.wikipedia.org/wiki/Dolichodouglas | 2021-01-18T18:35:55 | {"wikidata": ["Q5289044"]} |
Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). They may develop a somewh... | Sialuria | c0342853 | 1,688 | medlineplus | https://medlineplus.gov/genetics/condition/sialuria/ | 2021-01-27T08:24:43 | {"gard": ["4865"], "mesh": ["D029461"], "omim": ["269921"], "synonyms": []} |
Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with ma... | Multiple sulfatase deficiency | c0268263 | 1,689 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=585 | 2021-01-23T18:14:20 | {"gard": ["5061"], "mesh": ["D052517"], "omim": ["272200"], "umls": ["C0268263", "C1720864"], "icd-10": ["E75.2"], "synonyms": ["Juvenile sulfatidosis, Austin type", "MSD", "Mucosulfatidosis"]} |
Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordinati... | Weaver syndrome | c0265210 | 1,690 | gard | https://rarediseases.info.nih.gov/diseases/7878/weaver-syndrome | 2021-01-18T17:57:07 | {"mesh": ["C536687"], "omim": ["277590"], "orphanet": ["3447"], "synonyms": ["Weaver Smith syndrome", "WSS", "Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly", "Camptodactyly - overgrowth - unusual facies", "Camptodactyly-overgrowth-unusual facies syndrome", "EZH2 Related Ove... |
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosi... | Arterial dissection-lentiginosis syndrome | c1838122 | 1,691 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1682 | 2021-01-23T17:18:09 | {"mesh": ["C563937"], "omim": ["600459"], "umls": ["C1838122"], "icd-10": ["Q87.8"]} |
A number sign (#) is used with this entry because of evidence that variation in the TPCN2 gene (612163), located on chromosome 11q13, influences skin, hair, and eye pigmentation.
For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see 22722... | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 | c2677088 | 1,692 | omim | https://www.omim.org/entry/612267 | 2019-09-22T16:02:00 | {"mesh": ["C567376"], "omim": ["612267"], "synonyms": ["Alternative titles", "SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR"]} |
For other uses, see Evil Eye (disambiguation).
Curse believed to be cast by a malevolent glare, causing many cultures to create measures against it
Part of a series on the
Paranormal
Main articles
* Astral projection
* Astrology
* Aura
* Bilocation
* Breatharianism
* Clairvoyance
* Close encou... | Evil eye | None | 1,693 | wikipedia | https://en.wikipedia.org/wiki/Evil_eye | 2021-01-18T18:29:58 | {"wikidata": ["Q1020115"]} |
A number sign (#) is used with this entry because glucose/galactose malabsorption (GGM) is caused by homozygous mutation in the gene encoding the intestinal sodium/glucose transporter (SLC5A1; 182380) on chromosome 22q12.
Description
Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder c... | GLUCOSE/GALACTOSE MALABSORPTION | c0268186 | 1,694 | omim | https://www.omim.org/entry/606824 | 2019-09-22T16:09:58 | {"mesh": ["C562602"], "omim": ["606824"], "icd-10": ["E74.39"], "orphanet": ["35710"], "synonyms": ["Alternative titles", "MONOSACCHARIDE MALABSORPTION"]} |
Inflammatory demyelinating disease
MOG antibody disease, MOGAD[1] or Anti-MOG associated encephalomyelitis is an inflammatory demyelinating disease of the central nervous system. Serum anti-myelin oligodendrocyte glycoprotein antibodies are present in up to half of patients with an acquired demyelinating syndrome an... | MOG antibody disease | None | 1,695 | wikipedia | https://en.wikipedia.org/wiki/MOG_antibody_disease | 2021-01-18T19:10:55 | {"wikidata": ["Q25339739"]} |
Porocephaliasis
SpecialtyInfectious disease
Porocephaliasis is a condition associated with species in the closely related genera Porocephalus and Armillifer. (The term "pentastomiasis" encompasses all diseases of Pentastomida, which includes porocephaliasis and linguatulosis.)
Porocephaliasis is associate... | Porocephaliasis | c0277483 | 1,696 | wikipedia | https://en.wikipedia.org/wiki/Porocephaliasis | 2021-01-18T18:32:03 | {"umls": ["C0277483"], "icd-10": ["B88.8"], "wikidata": ["Q4373155"]} |
A number sign (#) is used with this entry because of evidence that trichotillomania is caused by heterozygous mutation in the SLITRK1 gene (609678) on chromosome 13q31. One such patient has been reported.
Description
Trichotillomania (TTM) is a neuropsychiatric disorder characterized by chronic, repetitive, or ... | TRICHOTILLOMANIA | c0040953 | 1,697 | omim | https://www.omim.org/entry/613229 | 2019-09-22T15:59:15 | {"doid": ["0050587"], "mesh": ["D014256"], "omim": ["613229"], "icd-10": ["F63.3"]} |
MUTYH-associated polyposis
Other namesMYH-associated polyposis
SpecialtyMedical genetics, gastroenterology
ComplicationsColorectal cancer
CausesDNA repair gene mutation
Diagnostic methodColonoscopy
Differential diagnosisFamilial adenomatous polyposis, Lynch syndrome
TreatmentColonoscopy
Polypectomy
... | MUTYH-associated polyposis | c3272841 | 1,698 | wikipedia | https://en.wikipedia.org/wiki/MUTYH-associated_polyposis | 2021-01-18T18:40:03 | {"gard": ["10805"], "umls": ["C1828108"], "wikidata": ["Q1266575"]} |
Malalignment of the nail plate
SpecialtyDermatology
Malalignment of the nail plate is a congenital malalignment of the nail of the great toe, and is often misdiagnosed although it is a common condition.[1]:659–60
## See also[edit]
* Skin lesion
## References[edit]
1. ^ Freedberg, et al. (2003). Fit... | Malalignment of the nail plate | None | 1,699 | wikipedia | https://en.wikipedia.org/wiki/Malalignment_of_the_nail_plate | 2021-01-18T19:05:01 | {"wikidata": ["Q6741211"]} |
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