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A number sign (#) is used with this entry because obesity is predominantly a polygenic and multifactorial trait. Genetic variation in some genes have been associated with susceptibility to obesity as a monogenic trait (see body mass index (BMI), 606641).
Autosomal recessive disorders with obesity as a predominant fe... | OBESITY | c1857854 | 900 | omim | https://www.omim.org/entry/601665 | 2019-09-22T16:14:27 | {"doid": ["9970"], "mesh": ["C565726"], "omim": ["601665"], "icd-9": ["278.00"], "icd-10": ["E66.9"], "orphanet": ["71526", "71529"]} |
Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usu... | Inflammatory myofibroblastic tumor | c0334121 | 901 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178342 | 2021-01-23T17:45:45 | {"gard": ["7146"], "mesh": ["D006104"], "umls": ["C0334121"]} |
An extremely rare polymalformative syndrome.
## Epidemiology
It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents.
## Clinical description
Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ul... | Lethal faciocardiomelic dysplasia | c1856891 | 902 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1972 | 2021-01-23T18:02:58 | {"mesh": ["C565578"], "omim": ["227270"], "umls": ["C1856891"], "icd-10": ["Q87.8"]} |
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: "Iridoplegia" – news · newspapers · books · scholar · JSTOR (August 2018) (Learn how and when to remove this template me... | Iridoplegia | c0423302 | 903 | wikipedia | https://en.wikipedia.org/wiki/Iridoplegia | 2021-01-18T19:05:40 | {"mesh": ["D011681"], "umls": ["C0423302"], "wikidata": ["Q6069638"]} |
A number sign (#) is used with this entry because of evidence that mesomelia-synostoses syndrome is a contiguous gene deletion syndrome caused by heterozygous microdeletion on chromosome 8q13.
Description
The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia c... | MESOMELIA-SYNOSTOSES SYNDROME | c1838162 | 904 | omim | https://www.omim.org/entry/600383 | 2019-09-22T16:16:15 | {"mesh": ["C537348"], "omim": ["600383"], "orphanet": ["2496"], "synonyms": ["Alternative titles", "CHROMOSOME 8q13 DELETION SYNDROME", "MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE", "MESOMELIC DYSPLASIA, SYNDROMIC"]} |
In psychiatry, thought withdrawal is the delusional belief that thoughts have been 'taken out' of the patient's mind, and the patient has no power over this.[1] It often accompanies thought blocking. The patient may experience a break in the flow of their thoughts, believing that the missing thoughts have been withdr... | Thought withdrawal | c0233686 | 905 | wikipedia | https://en.wikipedia.org/wiki/Thought_withdrawal | 2021-01-18T18:29:17 | {"umls": ["C0233686"], "wikidata": ["Q7797002"]} |
Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous... | Cytophagic histiocytic panniculitis | c0406594 | 906 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94087 | 2021-01-23T17:56:15 | {"umls": ["C0406594"], "icd-10": ["M35.8"], "synonyms": ["CHP", "Winkelmann cytophagic panniculitis"]} |
Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems, enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia)... | Virus associated hemophagocytic syndrome | None | 907 | gard | https://rarediseases.info.nih.gov/diseases/7857/virus-associated-hemophagocytic-syndrome | 2021-01-18T17:57:10 | {"synonyms": []} |
Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metaca... | Emery-Nelson syndrome | c1841693 | 908 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1927 | 2021-01-23T18:51:05 | {"gard": ["2593"], "mesh": ["C535626"], "omim": ["139750"], "umls": ["C1841693"], "icd-10": ["Q87.8"], "synonyms": ["Hand and foot deformity-flat facies syndrome"]} |
A number sign (#) is used with this entry because of evidence that selective pituitary resistance to thyroid hormone is caused by mutation in the thyroid hormone receptor gene (THRB; 190160). Generalized resistance to thyroid hormone (GRTH), autosomal dominant (188570) and autosomal recessive (274300), is also caused... | THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY | c1840364 | 909 | omim | https://www.omim.org/entry/145650 | 2019-09-22T16:39:49 | {"mesh": ["C564154"], "omim": ["145650"], "orphanet": ["165994"], "synonyms": ["Alternative titles", "HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION"]} |
Mycotic aneurysm
Other namesmycotic aneurysm or microbial arteritis
SpecialtyInfectious disease
An infected aneurysm[1] is an aneurysm arising from bacterial infection of the arterial wall. It can be a common complication of the hematogenous spread of bacterial infection.[2]
William Osler first used the ter... | Mycotic aneurysm | c0002950 | 910 | wikipedia | https://en.wikipedia.org/wiki/Mycotic_aneurysm | 2021-01-18T18:28:35 | {"mesh": ["D000785"], "wikidata": ["Q17130655"]} |
Pigeonpox virus
Virus classification
(unranked): Virus
Realm: Varidnaviria
Kingdom: Bamfordvirae
Phylum: Nucleocytoviricota
Class: Pokkesviricetes
Order: Chitovirales
Family: Poxviridae
Genus: Avipoxvirus
Species:
Pigeonpox virus
Pigeon pox is a viral disease to which pigeons are sus... | Pigeon pox | None | 911 | wikipedia | https://en.wikipedia.org/wiki/Pigeon_pox | 2021-01-18T18:31:21 | {"wikidata": ["Q7193348"]} |
Adie syndrome is is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal that constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. ... | Adie syndrome | c0001519 | 912 | gard | https://rarediseases.info.nih.gov/diseases/5749/adie-syndrome | 2021-01-18T18:02:15 | {"mesh": ["D000270"], "omim": ["103100"], "synonyms": ["Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes", "Holmes-Adie syndrome", "HAS", "Adie's Pupil"]} |
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
## Epidemiology
It has been ... | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | c2931296 | 913 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2255 | 2021-01-23T18:03:56 | {"gard": ["347"], "mesh": ["C536714"], "omim": ["600001"], "umls": ["C2931296"], "icd-10": ["Q87.8"], "synonyms": ["Yorifuji-Okuno syndrome"]} |
A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular h... | 2-methylbutyryl-CoA dehydrogenase deficiency | c1864912 | 914 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79157 | 2021-01-23T19:09:41 | {"gard": ["10322"], "mesh": ["C566487"], "omim": ["610006"], "umls": ["C1864912"], "icd-10": ["E71.1"], "synonyms": ["2-methylbutyric aciduria", "Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency", "SBCAD deficiency", "Short/branched-chain acyl-coA dehydrogenase deficiency"]} |
For a general discussion of hereditary prostate cancer, see 176807.
Mapping
Gudmundsson et al. (2007) performed a genomewide association scan of 1,501 Icelandic men with prostate cancer and 11,290 controls, followed by 3 case-control replication studies in individuals from the Netherlands, Spain, and Chicago and fo... | PROSTATE CANCER, HEREDITARY, 11 | c2931456 | 915 | omim | https://www.omim.org/entry/611955 | 2019-09-22T16:02:35 | {"doid": ["10283"], "mesh": ["C537243"], "omim": ["611955"], "orphanet": ["1331"]} |
A number sign (#) is used with this entry because of evidence that X-linked mental retardation-101 (MRX101) is caused by mutation in the MID2 gene (300204) on chromosome Xq22. One such family has been reported.
Clinical Features
Geetha et al. (2014) reported a large family from northern India in which 11 males span... | MENTAL RETARDATION, X-LINKED 101 | c2931498 | 916 | omim | https://www.omim.org/entry/300928 | 2019-09-22T16:19:09 | {"mesh": ["C567906"], "omim": ["300928"], "orphanet": ["777"]} |
Sexual attraction to individuals of particular age ranges
The term chronophilia was used by John Money to describe a form of paraphilia in which an individual experiences sexual attraction limited to individuals of particular age ranges.[1][2] The term has not been widely adopted by sexologists, who instead use term... | Chronophilia | None | 917 | wikipedia | https://en.wikipedia.org/wiki/Chronophilia | 2021-01-18T18:42:26 | {"wikidata": ["Q1088341"]} |
For other uses, see Spoilage.
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article possibly contains original research. Please improve it by verifying the claims made and adding inline citations. St... | Spoiled child | None | 918 | wikipedia | https://en.wikipedia.org/wiki/Spoiled_child | 2021-01-18T18:34:09 | {"wikidata": ["Q3054155"]} |
Familial amyloid cardiomyopathy
SpecialtyCardiology
Familial amyloid cardiomyopathy (FAC), or transthyretin amyloid cardiomyopathy (ATTR-CM) results from the aggregation and deposition of mutant and wild-type transthyretin (TTR) protein in the heart.[1] TTR amyloid fibrils infiltrate the myocardium, leadin... | Familial amyloid cardiomyopathy | c0342613 | 919 | wikipedia | https://en.wikipedia.org/wiki/Familial_amyloid_cardiomyopathy | 2021-01-18T18:56:24 | {"orphanet": ["85451"], "synonyms": ["ATTR cardiomyopathy", "ATTRV122I-related amyloidosis", "TTR-related amyloid cardiomyopathy", "TTR-related cardiac amyloidosis", "Transthyretin amyloid cardiopathy", "Transthyretin-related familial amyloid cardiomyopathy"], "wikidata": ["Q5432929"]} |
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Peritoneal carcinomatosis" – news · newspapers · books · scholar · JSTOR (November 2018)
Peritoneal ... | Peritoneal carcinomatosis | c0346990 | 920 | wikipedia | https://en.wikipedia.org/wiki/Peritoneal_carcinomatosis | 2021-01-18T18:41:22 | {"umls": ["C0346990"], "wikidata": ["Q2071182"]} |
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.
*... | Arthrogryposis-hyperkeratosis syndrome, lethal form | c1859710 | 921 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1485 | 2021-01-23T18:29:06 | {"gard": ["3053"], "mesh": ["C535883"], "omim": ["208158"], "umls": ["C1859710"], "synonyms": ["Johnston-Aarons-Schelley syndrome"]} |
A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent duct... | Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome | None | 922 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99048 | 2021-01-23T17:23:08 | {"icd-10": ["Q22.2"], "synonyms": ["APV/PDA, non-Fallot type"]} |
A number sign (#) is used with this entry because of evidence that xeroderma pigmentosum complementation group G (XPG) and XPG/Cockayne syndrome are caused by homozygous or compound heterozygous mutation in the ERCC5 gene (133530) on chromosome 13q33.
Homozygous mutation in the ERCC5 gene can also cause cerebrooculo... | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G | c0009207 | 923 | omim | https://www.omim.org/entry/278780 | 2019-09-22T16:21:04 | {"doid": ["0110849"], "mesh": ["D003057"], "omim": ["278780"], "orphanet": ["191", "1466", "220295", "910"], "synonyms": ["Alternative titles", "XP, GROUP G", "XERODERMA PIGMENTOSUM VII"], "genereviews": ["NBK1397"]} |
Facial femoral syndrome
Other namesFemoral Hyperplasia-Unusual Facies syndrome
Facial femoral syndrome is a rare congenital disorder.[1] It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disord... | Facial femoral syndrome | c0265263 | 924 | wikipedia | https://en.wikipedia.org/wiki/Facial_femoral_syndrome | 2021-01-18T19:10:06 | {"gard": ["61"], "mesh": ["C537916"], "umls": ["C0265263"], "orphanet": ["1988"], "wikidata": ["Q18020133"]} |
Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males... | Barth syndrome | c0574083 | 925 | medlineplus | https://medlineplus.gov/genetics/condition/barth-syndrome/ | 2021-01-27T08:25:48 | {"gard": ["5890"], "mesh": ["D056889"], "omim": ["302060"], "synonyms": []} |
Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.
## Epidemiology
The preval... | Primary unilateral adrenal hyperplasia | c4274967 | 926 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231580 | 2021-01-23T16:56:19 | {"icd-10": ["E26.0"], "synonyms": ["PUAH"]} |
Palindromic rheumatism
SpecialtyRheumatology
Palindromic rheumatism (PR) is a syndrome characterised by recurrent, self-resolving inflammatory attacks in and around the joints, consists of arthritis or periarticular soft tissue inflammation.[1] The course is often acute onset, with sudden and rapidly developin... | Palindromic rheumatism | c0085574 | 927 | wikipedia | https://en.wikipedia.org/wiki/Palindromic_rheumatism | 2021-01-18T18:57:45 | {"gard": ["7304"], "mesh": ["C538103"], "umls": ["C0085574", "C0158178"], "wikidata": ["Q3495854"]} |
A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.
## Epidemiology
Fewer than ten cases have been reported in the literature.
## Clinical description
Small violaceous papules develop on the trunk and extremities and are characterized by an atro... | Annular atrophic lichen planus | c4304037 | 928 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254411 | 2021-01-23T17:32:55 | {"gard": ["12676"], "icd-10": ["L43.8"], "synonyms": ["Annular atrophic LP"]} |
Cholesteryl ester storage disease is is a type of lysosomal acid lipase deficiency. It is an inherited disease that causes a buildup of fats (lipids) in the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases. Some people with cholesteryl ester ... | Cholesteryl ester storage disease | c0008384 | 929 | gard | https://rarediseases.info.nih.gov/diseases/12099/cholesteryl-ester-storage-disease | 2021-01-18T18:01:28 | {"mesh": ["D015217"], "omim": ["278000"], "orphanet": ["75234"], "synonyms": ["CESD", "Cholesterol ester hydrolase deficiency", "Cholesterol ester storage disease"]} |
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: "Otofacial syndrome" – news · newspapers · ... | Otofacial syndrome | None | 930 | wikipedia | https://en.wikipedia.org/wiki/Otofacial_syndrome | 2021-01-18T18:37:05 | {"wikidata": ["Q7108929"]} |
Hornova and Dlurosova (1968) described a brother and sister, aged 7 and 12 years, with presumed primary amyloidosis of the gingiva and conjunctiva and mental retardation. At 7 months of age in the boy and 5 months in the girl, the eyelids became swollen and leukoma with blindness ensued. The nature of the disorde... | AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION | c1859815 | 931 | omim | https://www.omim.org/entry/204850 | 2019-09-22T16:31:07 | {"mesh": ["C565958"], "omim": ["204850"]} |
Genetic mutation affecting cats
A Munchkin with legs extended
A dwarf cat is any domestic cat which has the condition of dwarfism due to a genetic mutation. Unlike undersized cats of normal proportions, dwarf cats display symptoms of osteochondrodysplasia—genetic disorders of bone and cartilage, typically manifeste... | Dwarf cat | None | 932 | wikipedia | https://en.wikipedia.org/wiki/Dwarf_cat | 2021-01-18T18:52:47 | {"wikidata": ["Q5317900"]} |
A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcut... | Familial juvenile hypertrophy of the breast | c0405471 | 933 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=180176 | 2021-01-23T18:48:49 | {"mesh": ["C536821"], "omim": ["113670"], "icd-10": ["N62"], "synonyms": ["Familial juvenile gigantomastia", "Virginal breast hypertrophy"]} |
A number sign (#) is used with this entry because otopalatodigital syndrome type I (OPD1) is caused by gain-of-function mutations in the gene encoding filamin A (FLNA; 300017) on chromosome Xq28.
Description
Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The d... | OTOPALATODIGITAL SYNDROME, TYPE I | c0265251 | 934 | omim | https://www.omim.org/entry/311300 | 2019-09-22T16:17:32 | {"mesh": ["C536065"], "omim": ["311300"], "orphanet": ["90650"], "synonyms": ["Alternative titles", "OPD I SYNDROME", "OPD SYNDROME 1"], "genereviews": ["NBK1393"]} |
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
## Epidemiolo... | Brachydactyly-syndactyly, Zhao type | c1853137 | 935 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93409 | 2021-01-23T18:40:09 | {"mesh": ["C565193"], "omim": ["610713"], "icd-10": ["Q73.8"]} |
For the monotypic bird genus, see Bornean bristlehead.
Pityriasis
SpecialtyDermatology
Pityriasis commonly refers to flaking (or scaling)[1] of the skin. The word comes from the Greek πίτυρον "bran".
## Contents
* 1 Classification
* 2 See also
* 3 References
* 4 External links
## Classification[edi... | Pityriasis | c0032024 | 936 | wikipedia | https://en.wikipedia.org/wiki/Pityriasis | 2021-01-18T18:41:51 | {"mesh": ["D010915"], "icd-9": ["696.5"], "wikidata": ["Q2097389"]} |
A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting ... | Transient pseudohypoaldosteronism | c4273962 | 937 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93164 | 2021-01-23T17:29:03 | {"icd-10": ["N15.8"], "synonyms": ["Secondary pseudohypoaldosteronism", "TPHA"]} |
A number sign (#) is used with this entry because of evidence that familial candidiasis-6 (CANDF6) is caused by heterozygous mutation in the IL17F gene (606496) on chromosome 6p12. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of familial candidiasi... | CANDIDIASIS, FAMILIAL, 6 | c0006845 | 938 | omim | https://www.omim.org/entry/613956 | 2019-09-22T15:56:58 | {"doid": ["2058"], "mesh": ["D002178"], "omim": ["613956"], "orphanet": ["1334"], "synonyms": ["Alternative titles", "CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT"]} |
Imperforate anus - Anorectal malformations
Other namesAnorectal malformations
An X-ray showing imperforate anus
SpecialtyMedical genetics
An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which var... | Imperforate anus | c0003466 | 939 | wikipedia | https://en.wikipedia.org/wiki/Imperforate_anus | 2021-01-18T18:54:49 | {"gard": ["6769"], "mesh": ["D001006"], "umls": ["C0003466"], "icd-9": ["751.2"], "orphanet": ["557"], "wikidata": ["Q484631"]} |
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-2 (CORD2) is caused by heterozygous mutation in the CRX gene (602225) on chromosome 19q13.
Description
Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of vi... | CONE-ROD DYSTROPHY 2 | c3489532 | 940 | omim | https://www.omim.org/entry/120970 | 2019-09-22T16:43:04 | {"doid": ["0111005"], "mesh": ["D000071700"], "omim": ["120970"], "orphanet": ["1872"], "synonyms": ["Alternative titles", "CONE-ROD RETINAL DYSTROPHY", "CONE-ROD DYSTROPHY", "RETINAL CONE-ROD DYSTROPHY"]} |
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal a... | Microcephaly-seizures-intellectual disability-heart disease syndrome | c2931529 | 941 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2519 | 2021-01-23T17:30:37 | {"mesh": ["C537544"], "umls": ["C2931529"], "icd-10": ["Q87.8"]} |
Paroxysmal nocturnal hemoglobinuria
Other namesParoxysmal nocturnal haemoglobinuria, Marchiafava–Micheli syndrome
Intravascular hemolytic anemia
SpecialtyHematology
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired,[1] life-threatening disease of the blood characterized by destruction of red bl... | Paroxysmal nocturnal hemoglobinuria | c0024790 | 942 | wikipedia | https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria | 2021-01-18T18:47:55 | {"gard": ["7337"], "mesh": ["D006457"], "umls": ["C0024790"], "orphanet": ["447"], "wikidata": ["Q1479494"]} |
A number sign (#) is used with this entry because autosomal dominant isolated ectopia lentis-1 (ECTOL1) is caused by heterozygous mutation in the FBN1 gene (134797) on chromosome 15q21.
Mutation in the same gene causes Marfan syndrome (154700), of which ectopia lentis is a feature.
Description
Ectopia lentis i... | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | c0013581 | 943 | omim | https://www.omim.org/entry/129600 | 2019-09-22T16:41:51 | {"doid": ["0111150"], "mesh": ["D004479"], "omim": ["129600"], "orphanet": ["1885"]} |
For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900).
Mapping
In a single large multiplex psoriasis family, Matthews et al. (1996) found evidence of linkage to 4q, using parametric linkage analyses. The maximum total pairwise lod score obtained was 3.03 with the m... | PSORIASIS 3, SUSCEPTIBILITY TO | c1832345 | 944 | omim | https://www.omim.org/entry/601454 | 2019-09-22T16:14:43 | {"omim": ["601454"]} |
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agon... | Paternal uniparental disomy of chromosome 6 | None | 945 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96191 | 2021-01-23T17:38:00 | {"icd-10": ["Q99.8"], "synonyms": ["UPD(6)pat"]} |
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profo... | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | c3554462 | 946 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352447 | 2021-01-23T17:18:55 | {"omim": ["615084"], "icd-10": ["G71.3"], "synonyms": ["Mitochondrial DNA maintenance syndrome due to MGME1 deficiency", "PEO-myopathy-emaciation syndrome", "mtDNA maintenance syndrome due to MGME1 deficiency"]} |
Saebo (1948) described 3 persons in 3 successive generations: grandfather, mother, and daughter. The tumor is distinct from the conjunctival lipodermoid of the Goldenhar syndrome (164210).
Eyes \- Conjunctival lipoma Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this templa... | LIPOMA OF THE CONJUNCTIVA | c1835373 | 947 | omim | https://www.omim.org/entry/151700 | 2019-09-22T16:38:51 | {"mesh": ["C563620"], "omim": ["151700"]} |
Dysgammaglobulinemia
SpecialtyHematology
Dysgammaglobulinemia is a type of immune disorder characterized by a reduction in some types of gamma globulins, resulting in heightened susceptibility to some infectious diseases where primary immunity is antibody based.[1][2]
It is distinguished from hypogammaglobuli... | Dysgammaglobulinemia | c0013374 | 948 | wikipedia | https://en.wikipedia.org/wiki/Dysgammaglobulinemia | 2021-01-18T19:10:52 | {"mesh": ["D004406"], "umls": ["C0013374"], "icd-9": ["279.06"], "icd-10": ["D80.4", "D80.2"], "wikidata": ["Q3042106"]} |
Chronic solvent-induced encephalopathy (CSE) is a condition induced by long-term exposure to organic solvents, often but not always in the workplace, that lead to a wide variety of persisting sensorimotor polyneuropathies and neurobehavioral deficits even after solvent exposure has been removed.[1][2][3] This syn... | Chronic solvent-induced encephalopathy | None | 949 | wikipedia | https://en.wikipedia.org/wiki/Chronic_solvent-induced_encephalopathy | 2021-01-18T19:07:57 | {"wikidata": ["Q5114000"]} |
Epidermoid cysts are keratinous cysts which may be impossible to distinguish clinically from sebaceous cysts (184500). Epidermoid cysts occur with Gardner syndrome (175100).
Inheritance \- Autosomal dominant Skin \- Epidermoid cysts ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edi... | EPIDERMOID CYSTS | c0014511 | 950 | omim | https://www.omim.org/entry/131600 | 2019-09-22T16:41:33 | {"mesh": ["D004814"], "omim": ["131600"], "icd-9": ["706.2"], "icd-10": ["L72.0", "L72.3", "K09.8"]} |
A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often oc... | Mixed cystic lymphatic malformation | None | 951 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=458792 | 2021-01-23T17:17:03 | {"icd-10": ["D18.1"], "synonyms": ["Mixed cystic lymphangioma"]} |
Lower respiratory tract infection
Conducting passages
SpecialtyPulmonology
Frequency291 million (2015)[1]
Deaths2.74 million (2015)[2]
Lower respiratory tract infection (LRTI) is a term often used as a synonym for pneumonia but can also be applied to other types of infection including lung abscess and ac... | Lower respiratory tract infection | c0149725 | 952 | wikipedia | https://en.wikipedia.org/wiki/Lower_respiratory_tract_infection | 2021-01-18T18:34:04 | {"icd-10": ["J10"], "wikidata": ["Q3631290"]} |
A number sign (#) is used with this entry because hyperekplexia-3 (HKPX3) is caused by homozygous or compound heterozygous mutation in the GLYT2 gene (SLC6A5; 604159) on chromosome 11p15. There is also evidence that a heterozygous mutation in the SLC6A5 gene can result in HKPX3.
For a general description and a d... | HYPEREKPLEXIA 3 | c1835614 | 953 | omim | https://www.omim.org/entry/614618 | 2019-09-22T15:54:46 | {"doid": ["0060698"], "mesh": ["C538136"], "omim": ["614618"], "orphanet": ["3197"], "genereviews": ["NBK1260"]} |
Myringomycosis is a fungal infection of the tympanic membrane. It is caused by the presence of the fungus Aspergillus nigricans or flavescens.[1]
## References[edit]
1. ^ Lilienthal, S. (2004). A Treatise on Diseases of the Skin. B. Jain Publishers. p. 184. ISBN 978-81-8056-076-7.
## Further reading[edit]
* A... | Myringomycosis | None | 954 | wikipedia | https://en.wikipedia.org/wiki/Myringomycosis | 2021-01-18T18:56:26 | {"wikidata": ["Q6948241"]} |
Hypoplasia of the right ventricle and tricuspid valve was observed in brother and sister by Davachi et al. (1967), who pointed out that at least 2 families with multiple affected sibs had been reported (Medd et al., 1961; Sackner et al., 1961).
Chessa et al. (2000) described a 1-day-old male child and his 34-yea... | RIGHT VENTRICULAR HYPOPLASIA, ISOLATED | c1848587 | 955 | omim | https://www.omim.org/entry/277200 | 2019-09-22T16:21:22 | {"mesh": ["C535682"], "omim": ["277200"], "orphanet": ["439"], "synonyms": ["Alternative titles", "IRVH"]} |
"MPS II" redirects here. For the Chinese romanization system, see Mandarin Phonetic Symbols II.
Hunter syndrome
Structure of heparan sulfate, one of the GAGs that builds up in the tissues of people with Hunter syndrome
SpecialtyEndocrinology
SymptomsSkeletal abnormalities, hearing loss, retinal degeneration, e... | Hunter syndrome | c2718304 | 956 | wikipedia | https://en.wikipedia.org/wiki/Hunter_syndrome | 2021-01-18T18:36:08 | {"gard": ["6675"], "mesh": ["D016532"], "umls": ["C2718304"], "icd-9": ["277.5"], "orphanet": ["580"], "wikidata": ["Q1529983"]} |
Post-maturity syndrome develops in about 20% of human pregnancies continuing past the expected dates.[1] Ten years ago it was generally held that the postmature fetus ran some risk of dying in the uterus before the onset of labour because of degeneration and calcification of the placenta.[2]Features of post-matur... | Post-maturity syndrome | c0221007 | 957 | wikipedia | https://en.wikipedia.org/wiki/Post-maturity_syndrome | 2021-01-18T19:07:03 | {"umls": ["C0221007"], "icd-10": ["P08.2"], "wikidata": ["Q7233555"]} |
This article is about lobar pneumonia. For the disease in general, see Pneumonia. For classification, see Classification of pneumonia.
Lobar pneumonia
Figure A shows the location of the lungs and airways in the body. This figure also shows pneumonia affecting the lower lobe of the left lung. Figure B shows nor... | Lobar pneumonia | c0032300 | 958 | wikipedia | https://en.wikipedia.org/wiki/Lobar_pneumonia | 2021-01-18T19:09:14 | {"mesh": ["D011014"], "icd-9": ["481"], "icd-10": ["J18.1"], "wikidata": ["Q6663548"]} |
Neonatal onset multisystem inflammatory disease (NOMID) is an inflammatory disorder present from birth (congenital) characterized by tissue damage of the nervous system, skin, and joints. Individuals with NOMID have a skin rash that is present from birth and persists throughout life. Other symptoms may include: h... | Neonatal Onset Multisystem Inflammatory disease | c0409818 | 959 | gard | https://rarediseases.info.nih.gov/diseases/1356/neonatal-onset-multisystem-inflammatory-disease | 2021-01-18T17:58:47 | {"mesh": ["D056587"], "omim": ["607115"], "umls": ["C0409818"], "orphanet": ["1451"], "synonyms": ["Chronic Infantile Neurological Cutaneous Articular syndrome", "CINCA syndrome", "CINCA", "Infantile Onset Multisystem Inflammatory Disease", "IOMID", "NOMID", "Multisystem inflammatory disease, neonatal-onset", "Prieur G... |
A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s).
## Epidemiology
The birth prevalence of unilateral renal agenesis (RA) is estimated at around 1/2,000. Fetal... | Renal agenesis | c1609433 | 960 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411709 | 2021-01-23T17:18:03 | {"gard": ["9228"], "mesh": ["C536482"], "omim": ["191830", "615721"], "umls": ["C0542519", "C1609433", "C1619700"], "icd-10": ["Q60.0", "Q60.1", "Q60.2"]} |
Pfeiffer et al. (1987) described 2 sibs from healthy parents with this combination of manifestations. Curiously, no mention was made of the sex of the sibs. Stratton and Parsons (1989) described a sporadic case. In addition to craniosynostosis involving the sagittal suture, micrognathia with limited mouth opening, tr... | CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS | c1857495 | 961 | omim | https://www.omim.org/entry/218450 | 2019-09-22T16:29:15 | {"mesh": ["C535578"], "omim": ["218450"], "orphanet": ["2872"], "synonyms": ["PFEIFFER CARDIOCRANIAL SYNDROME", "Craniosynostosis-congenital heart disease-intellectual disability syndrome", "Alternative titles", "Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis", "Pfeiff... |
A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral i... | NIK deficiency | None | 962 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=447731 | 2021-01-23T17:52:45 | {"icd-10": ["D81.8"], "synonyms": ["Primary immunodeficiency with multifaceted aberrant lymphoid immunity"]} |
Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mi... | Autosomal spastic paraplegia type 72 | c3810160 | 963 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401849 | 2021-01-23T17:00:50 | {"omim": ["615625"], "icd-10": ["G11.4"], "synonyms": ["SPG72"]} |
Rozycki et al. (1971) described a syndrome of deafness associated with short stature, vitiligo, muscle wasting, and achalasia. See 606579 for the association of vitiligo and congenital deafness, and 142623 and 193500 for a description of congenital deafness with Hirschsprung disease, another aganglionic state. Refere... | DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA | c1857339 | 964 | omim | https://www.omim.org/entry/221350 | 2019-09-22T16:28:57 | {"mesh": ["C565642"], "omim": ["221350"], "orphanet": ["3239"]} |
A number sign (#) is used with this entry because Kelley-Seegmiller syndrome is caused by mutation in the HPRT gene (308000) that results in partial deficiency of hypoxanthine guanine phosphoribosyltransferase.
Description
Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan sy... | KELLEY-SEEGMILLER SYNDROME | c0268117 | 965 | omim | https://www.omim.org/entry/300323 | 2019-09-22T16:20:26 | {"mesh": ["C562583"], "omim": ["300323"], "orphanet": ["79233"], "synonyms": ["Alternative titles", "GOUT, HPRT-RELATED", "HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL", "HPRT DEFICIENCY, PARTIAL", "HPRT1 DEFICIENCY, PARTIAL"]} |
5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is pa... | 5q minus syndrome | c0740302 | 966 | medlineplus | https://medlineplus.gov/genetics/condition/5q-minus-syndrome/ | 2021-01-27T08:25:13 | {"gard": ["8723"], "mesh": ["C535323"], "omim": ["153550"], "synonyms": []} |
Davis et al. (1981) reported a family in which 9 men in 3 generations presented with a slowly progressive spastic quadriparesis and varying degrees of psychomotor retardation. Both features of the syndrome were evident from early in life. None of the affected males had children. None of the carrier females showed abn... | MENTAL RETARDATION WITH SPASTIC PARAPLEGIA | c1839727 | 967 | omim | https://www.omim.org/entry/309640 | 2019-09-22T16:17:39 | {"mesh": ["C564099"], "omim": ["309640"], "orphanet": ["163982"], "synonyms": []} |
Ectopic crossed fused kidney in a fetus approx. 34 weeks
Crossed dystopia (syn.unilateral fusion cross fused renal ectopia) is a rare form of renal ectopia where both kidneys are on the same side of the spine. In many cases, the two kidneys are fused together, yet retain their own vessels and ureters.[1] The ureter ... | Crossed renal ectopia | c0221353 | 968 | wikipedia | https://en.wikipedia.org/wiki/Crossed_renal_ectopia | 2021-01-18T19:03:54 | {"mesh": ["D000069337"], "umls": ["C0221353", "C0266302"], "wikidata": ["Q16948277"]} |
## Summary
### Clinical characteristics.
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that ... | Hereditary Paraganglioma-Pheochromocytoma Syndromes | None | 969 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1548/ | 2021-01-18T21:20:38 | {"synonyms": []} |
Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In MSK, tiny sacs called cysts form in the inner part of the kidney (the medulla), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typic... | Medullary sponge kidney | c0022681 | 970 | gard | https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney | 2021-01-18T17:59:11 | {"mesh": ["D007691"], "orphanet": ["1309"], "synonyms": ["Cacchi Ricci disease", "Precalyceal canalicular ectasia", "Cacchi-Ricci syndrome", "Sponge kidney", "Cystic dilatation of renal collecting tubes", "Cacchi-Ricci disease", "MSK", "Precalicial canalicular ectasia"]} |
Atopic dermatitis
Other namesAtopic eczema, infantile eczema, prurigo Besnier, allergic eczema, neurodermatitis[1]
Atopic dermatitis of the inside crease of the elbow
SpecialtyDermatology
SymptomsItchy, red, swollen, cracked skin[2]
ComplicationsSkin infections, hay fever, asthma[2]
Usual onsetChildhood[2... | Atopic dermatitis | c0011615 | 971 | wikipedia | https://en.wikipedia.org/wiki/Atopic_dermatitis | 2021-01-18T19:10:41 | {"mesh": ["D003876"], "umls": ["C0011615", "C4280605"], "wikidata": ["Q268667"]} |
Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swellin... | Mycetoma | c0024449 | 972 | gard | https://rarediseases.info.nih.gov/diseases/3862/mycetoma | 2021-01-18T17:58:52 | {"mesh": ["D008271"], "orphanet": ["2583"], "synonyms": ["Madura foot"]} |
Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
## Epidemiology
Prevalence is unknown but, to date, two c... | Neutrophil immunodeficiency syndrome | c1842398 | 973 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=183707 | 2021-01-23T18:01:55 | {"mesh": ["C564275"], "omim": ["608203"], "umls": ["C1842398"], "icd-10": ["D71"]} |
Natal teeth are teeth present at birth and neonatal teeth are teeth that erupt within a month after delivery. Sibert and Porteous (1974) observed natal teeth in 6 members of a kindred. Limrick (1893) first observed natal teeth in a mother, her son and her sister's daughter.
Bodenhoff and Gorlin (1963) reported a fre... | TEETH PRESENT AT BIRTH | c0027443 | 974 | omim | https://www.omim.org/entry/187050 | 2019-09-22T16:32:50 | {"mesh": ["D009306"], "omim": ["187050"], "icd-10": ["K00.6"], "synonyms": ["Alternative titles", "NATAL TEETH"]} |
A number sign (#) is used with this entry because Fazio-Londe disease is caused by homozygous mutation in the C20ORF54 gene (SLC52A3; 613350) on chromosome 20p13. One such family has been reported.
Mutations in the SLC52A3 gene also cause Brown-Vialetto-Van Laere syndrome (BVVLS; 211530), a similar disorder with the... | FAZIO-LONDE DISEASE | c0015708 | 975 | omim | https://www.omim.org/entry/211500 | 2019-09-22T16:30:18 | {"mesh": ["D010244"], "omim": ["211500"], "icd-10": ["G12.1"], "orphanet": ["56965", "97229"], "synonyms": ["Alternative titles", "BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD"], "genereviews": ["NBK299312"]} |
Monilethrix
Other namesMoniliform hair syndrome
Beaded hair (60x magnification).
SpecialtyMedical genetics
Monilethrix (also referred to as beaded hair)[1] is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.[2][3] It comes from the Latin word for neckl... | Monilethrix | c0546966 | 976 | wikipedia | https://en.wikipedia.org/wiki/Monilethrix | 2021-01-18T19:01:40 | {"gard": ["93"], "mesh": ["D056734"], "umls": ["C0546966"], "icd-9": ["757.4"], "orphanet": ["573"], "wikidata": ["Q1363508"]} |
For other uses, see Caul (disambiguation).
A caul or cowl (Latin: Caput galeatum, literally, "helmeted head") is a piece of membrane that can cover a newborn's head and face.[1] Birth with a caul is rare, occurring in fewer than 1 in 80,000 births.[citation needed] The caul is harmless and is immediately removed... | Caul | None | 977 | wikipedia | https://en.wikipedia.org/wiki/Caul | 2021-01-18T18:31:49 | {"wikidata": ["Q603476"]} |
A number sign (#) is used with this entry because multiple endocrine neoplasia type IIA (MEN2A) is caused by heterozygous mutation in the RET oncogene (164761) on chromosome 10q11.
Description
Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullar... | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | c0025268 | 978 | omim | https://www.omim.org/entry/171400 | 2019-09-22T16:36:20 | {"doid": ["0050430"], "mesh": ["D018813"], "omim": ["171400"], "icd-9": ["258.02"], "icd-10": ["E31.22"], "orphanet": ["653", "247698"], "synonyms": ["Alternative titles", "PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA", "PTC SYNDROME", "SIPPLE SYNDROME"], "genereviews": ["NBK1257"]} |
Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of t... | Spondylospinal thoracic dysostosis | c1866184 | 979 | gard | https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis | 2021-01-18T17:57:31 | {"mesh": ["C566622"], "omim": ["601809"], "umls": ["C1866184"], "synonyms": []} |
Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, infants with CDPX1 have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappea... | Chondrodysplasia punctata 1, X-linked recessive | c1844853 | 980 | gard | https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive | 2021-01-18T18:01:28 | {"mesh": ["C535941"], "omim": ["302950"], "orphanet": ["79345"], "synonyms": ["Chondrodysplasia punctata 1 X-linked recessive", "CDPX1", "CPXR", "Arylsulfatase E deficiency", "Chondrodysplasia punctata, brachytelephalangic", "Chondrodysplasia punctata brachytelephalangic"]} |
Panic disorder
Someone with a panic attack, being reassured by another person.
SpecialtyPsychiatry, Clinical psychology
SymptomsSudden periods of intense fear, palpitations, sweating, shaking, shortness of breath, numbness[1][2]
Usual onsetSudden and recurrent[1]
CausesUnknown[3]
Risk factorsFamily histor... | Panic disorder | c0030319 | 981 | wikipedia | https://en.wikipedia.org/wiki/Panic_disorder | 2021-01-18T18:57:10 | {"mesh": ["D016584"], "umls": ["C0030319"], "icd-9": ["300.01", "300.21"], "icd-10": ["F41.0"], "wikidata": ["Q741713"]} |
A number sign (#) is used with this entry because of evidence that facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome (FHEIG) is caused by heterozygous mutation in the KCNK4 gene (605720) on chromosome 11q13.
Clinical Features
Bauer et al. (2018) rep... | FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME | None | 982 | omim | https://www.omim.org/entry/618381 | 2019-09-22T15:42:12 | {"omim": ["618381"]} |
Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.
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*[c.]... | Combined immunodeficiency due to OX40 deficiency | c3810053 | 983 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=431149 | 2021-01-23T17:18:38 | {"omim": ["615593"], "icd-10": ["D81.8"], "synonyms": ["Combined immunodeficiency with childhood-onset Kaposi sarcoma", "Combined immunodeficiency with impaired immunity to HHV-8", "Combined immunodeficiency with impaired immunity to human herpes virus 8"]} |
Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.
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*[c.]: circa
*[AA]: Adrenergic agonist
... | Peripartum cardiomyopathy | c0877208 | 984 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=563 | 2021-01-23T17:15:35 | {"gard": ["220"], "umls": ["C0269972", "C0877208"], "icd-10": ["O90.3"], "synonyms": ["Postpartum cardiomyopathy"]} |
Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.
## Epidemi... | Cardiac diverticulum | c4020965 | 985 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1686 | 2021-01-23T18:49:47 | {"gard": ["1094"], "icd-10": ["Q24.8"]} |
Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short trunk, partial dislocation o... | Dyggve-Melchior-Clausen syndrome | c0265286 | 986 | gard | https://rarediseases.info.nih.gov/diseases/6295/dyggve-melchior-clausen-syndrome | 2021-01-18T18:00:48 | {"mesh": ["C535726"], "omim": ["223800", "304950"], "orphanet": ["239"], "synonyms": ["Dyggve-Melchior-Clausen disease", "DMC syndrome"]} |
For a clinical description of atopic dermatitis and an overview of linkage studies, see 603165.
Mapping
Beyer et al. (2000) tested for the association and linkage between atopic dermatitis and 5 chromosomal regions: 5q31-q33, 6p21.3, 12q15-q24.1, 13q12-q31, and 14q11.2/14q32.1-q32.3. Marker analysis was performed i... | DERMATITIS, ATOPIC, 5 | c1853900 | 987 | omim | https://www.omim.org/entry/605844 | 2019-09-22T16:10:52 | {"mesh": ["C565280"], "omim": ["605844"]} |
This article is about congenital disorders in humans. For animals, see Teratology.
Condition present at birth regardless of cause; human disease or disorder developed prior to birth
Birth defect
Other namesCongenital disorder, congenital disease, congenital deformity, congenital anomaly[1]
A boy with Down syndr... | Birth defect | c0242354 | 988 | wikipedia | https://en.wikipedia.org/wiki/Birth_defect | 2021-01-18T18:51:43 | {"mesh": ["D009358"], "wikidata": ["Q727096"]} |
Bullous pemphigoid is a skin disorder characterized by large blisters. The blisters are usually located on the arms, legs, or middle of the body. In some people, the mouth or genitals are also affected. The blisters may break open and form ulcers or open sores. Bullous pemphigoid usually occurs in older persons a... | Bullous pemphigoid | c0030805 | 989 | gard | https://rarediseases.info.nih.gov/diseases/5972/bullous-pemphigoid | 2021-01-18T18:01:41 | {"mesh": ["D010391"], "synonyms": ["Senile Dermatitis Herpetiformis", "Pemphigoid", "Parapemphigus", "Old Age Pemphigus", "Benign Pemphigus"]} |
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D-bifunctional protein deficiency
Other names17β-hydroxysteroid dehydrogenase IV defici... | D-bifunctional protein deficiency | c0342870 | 990 | wikipedia | https://en.wikipedia.org/wiki/D-bifunctional_protein_deficiency | 2021-01-18T18:35:48 | {"gard": ["4539"], "mesh": ["C536663", "C537286"], "umls": ["C0342870"], "orphanet": ["300", "2981"], "wikidata": ["Q5203306"]} |
Juel-Jensen (1987) referred to a family he had seen in which 4 brothers had many attacks of varicella. He observed a 15-year-old brother in his second attack at the age of 15. A 19-year-old brother had also had 2 attacks; an 18-year-old brother had had 8 attacks, and a brother aged 16.5 had had 3 attacks, all of ... | VARICELLA, SEVERE RECURRENT | c1833487 | 991 | omim | https://www.omim.org/entry/600670 | 2019-09-22T16:15:58 | {"mesh": ["C563458"], "omim": ["600670"]} |
Inability to move the eyes up and down
Not to be confused with Parinaud's oculoglandular syndrome.
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: "Parinaud's syndrom... | Parinaud's syndrome | c0152222 | 992 | wikipedia | https://en.wikipedia.org/wiki/Parinaud%27s_syndrome | 2021-01-18T19:08:59 | {"mesh": ["D015835"], "icd-9": ["378.81"], "icd-10": ["G46.3"], "wikidata": ["Q1503804"]} |
A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-7 (CLN7) is caused by homozygous or compound heterozygous mutation in the MFSD8 gene (611124), which encodes a putative lysosomal transporter, on chromosome 4q28.
Description
The neuronal ceroid lipofuscinoses (NCL, or CLN) are a c... | CEROID LIPOFUSCINOSIS, NEURONAL, 7 | c0022340 | 993 | omim | https://www.omim.org/entry/610951 | 2019-09-22T16:03:53 | {"doid": ["0110722"], "mesh": ["D009472"], "omim": ["610951"], "orphanet": ["168491", "228366"]} |
Hyperesthesia
Other namesHyperaesthesia
SpecialtyNeurology, psychiatry
Hyperesthesia is a condition that involves an abnormal increase in sensitivity to stimuli of the sense. Stimuli of the senses can include sound that one hears, foods that one tastes, textures that one feels, and so forth. Increased touch ... | Hyperesthesia | c0020453 | 994 | wikipedia | https://en.wikipedia.org/wiki/Hyperesthesia | 2021-01-18T18:32:02 | {"mesh": ["D006941"], "umls": ["C0020453"], "icd-9": ["782.0"], "icd-10": ["R20.3"], "wikidata": ["Q1638131"]} |
Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headach... | Functioning gonadotropic adenoma | c0346304 | 995 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91348 | 2021-01-23T18:04:32 | {"umls": ["C0346304"], "icd-10": ["D35.2"], "synonyms": ["Functioning pituitary gonadotropic adenoma", "Gonadotroph adenoma"]} |
Linsk et al. (1975) described a sibship, offspring of Sicilian first cousins, in which 4 of 6 sibs in early adulthood developed a clinical disorder in the hematopoietic and immunoglobulin-producing systems. A female sib died at age 21 years with myeloid aplasia. A male sib presented at age 17 with erythroid and plasm... | IMMUNOERYTHROMYELOID HYPOPLASIA | c0272167 | 996 | omim | https://www.omim.org/entry/242880 | 2019-09-22T16:26:20 | {"mesh": ["C538361"], "omim": ["242880"]} |
## Clinical Features
Govrin-Yehudain et al. (2004) reported a 3-generation Druze pedigree in which 4 females presented with juvenile hypertrophy of the breast (JHB; see 113670) and congenital anonychia. They developed rapid and massive breast enlargement at ages 13 to 14 years, before menarche, and underwent breast... | MAMMARY-DIGITAL-NAIL SYNDROME | c3150946 | 997 | omim | https://www.omim.org/entry/613689 | 2019-09-22T15:57:50 | {"omim": ["613689"], "orphanet": ["238744"], "synonyms": ["MDN syndrome", "Onycho-digito-mammary syndrome"]} |
"PICA syndrome" redirects here. For the appetite for non-nutritive substances, see Pica (disorder).
Lateral medullary syndrome
Other namesWallenberg syndrome, posterior inferior cerebellar artery syndrome
Medulla oblongata, shown by a transverse section passing through the middle of the olive. (Lateral medullary... | Lateral medullary syndrome | c0043019 | 998 | wikipedia | https://en.wikipedia.org/wiki/Lateral_medullary_syndrome | 2021-01-18T18:50:47 | {"gard": ["9263"], "mesh": ["D014854"], "umls": ["C0043019"], "wikidata": ["Q2140130"]} |
HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
*[v]: ... | Hyperinsulinism due to UCP2 deficiency | c4303082 | 999 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276556 | 2021-01-23T17:19:21 | {"icd-10": ["E16.1"], "synonyms": ["Hyperinsulinemic hypoglycemia due to UCP2 deficiency"]} |
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