text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
values | source_url stringlengths 33 155 | retrieved_date timestamp[s] | classification_map stringlengths 2 1.45k |
|---|---|---|---|---|---|---|---|
A number sign (#) is used with this entry because of evidence that susceptibility to noninsulin-dependent diabetes mellitus (NIDDM1) can be caused by mutation in the CAPN10 gene (605286).
For a phenotypic description and a discussion of genetic heterogeneity of noninsulin-dependent diabetes mellitus, see 125853.
Ma... | DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1 | c1832544 | 29,700 | omim | https://www.omim.org/entry/601283 | 2019-09-22T16:15:11 | {"mesh": ["C563359"], "omim": ["601283"], "synonyms": ["Alternative titles", "NONINSULIN-DEPENDENT DIABETES MELLITUS 1"]} |
46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small t... | 46,XX testicular disorder of sex development | c0022735 | 29,701 | gard | https://rarediseases.info.nih.gov/diseases/399/46xx-testicular-disorder-of-sex-development | 2021-01-18T17:57:25 | {"mesh": ["D007713"], "omim": ["278850"], "umls": ["C0022735"], "orphanet": ["393"], "synonyms": ["46,XX testicular DSD", "46,XX gonadal dysgenesis", "XX male syndrome", "46, XX gonadal sex reversal", "XX sex reversal"]} |
A number sign (#) is used with this entry because of evidence that platelet-type bleeding disorder-20 (BDPLT20) is caused by heterozygous mutation in the SLFN14 gene (614958) on chromosome 17q12.
Clinical Features
Fletcher et al. (2015) reported a large family with 9 members spanning 3 generations who had a strong ... | BLEEDING DISORDER, PLATELET-TYPE, 20 | c4310797 | 29,702 | omim | https://www.omim.org/entry/616913 | 2019-09-22T15:47:29 | {"doid": ["0111055"], "omim": ["616913"], "orphanet": ["466806"], "synonyms": []} |
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.
Infants with SIDDT who are genetically male, with one X chromosom... | Sudden infant death with dysgenesis of the testes syndrome | c1837371 | 29,703 | medlineplus | https://medlineplus.gov/genetics/condition/sudden-infant-death-with-dysgenesis-of-the-testes-syndrome/ | 2021-01-27T08:24:35 | {"gard": ["12382"], "mesh": ["C563856"], "omim": ["608800"], "synonyms": []} |
Further information: Neonatal withdrawal
Prenatal cocaine exposure (PCE), theorized in the 1970s, occurs when a pregnant woman uses cocaine and thereby exposes her fetus to the drug. Teratogens are environmental agents, substances that can cause serious damage if exposure occurs to a fetus in the prenatal period. Th... | Prenatal cocaine exposure | c0432371 | 29,704 | wikipedia | https://en.wikipedia.org/wiki/Prenatal_cocaine_exposure | 2021-01-18T18:32:55 | {"gard": ["1413"], "umls": ["C0432371"], "orphanet": ["1911"], "wikidata": ["Q7240522"]} |
Michels syndrome
Other namesOculopalatoskeletal syndrome
This condition is inherited in an autosomal recessive manner[1]
SpecialtyMedical genetics
Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus,[2][3] highly arche... | Michels syndrome | c0796059 | 29,705 | wikipedia | https://en.wikipedia.org/wiki/Michels_syndrome | 2021-01-18T18:59:03 | {"mesh": ["C537738"], "orphanet": ["2506"], "wikidata": ["Q6837320"]} |
O'Neill and James (1989) described autosomal dominant transmission of a pigmentary pattern characterized by facial, lip, extremity, buttock, and palmoplantar small, discrete hyperpigmented macules. None of the patients had lesions of the oral mucosa or internal organ system abnormalities. Thus, the disorder could... | LENTIGINOSIS, INHERITED PATTERNED | c3492944 | 29,706 | omim | https://www.omim.org/entry/151001 | 2019-09-22T16:39:01 | {"mesh": ["C573023"], "omim": ["151001"], "orphanet": ["231040"], "synonyms": ["Familial lentigines profusa", "LENTIGINOSIS, DIFFUSE", "LENTIGINOSIS PROFUSA", "LENTIGINOSIS, GENERALIZED", "Alternative titles", "Familial multiple lentigines syndrome without systemic involvement"]} |
Neonatal ichthyosis–sclerosing cholangitis syndrome
Other namesNISCH syndrome
SpecialtyDermatology
Neonatal ichthyosis–sclerosing cholangitis syndrome (also known as "NISCH syndrome"[1] and "ichthyosis–sclerosing cholangitis syndrome"[1]) is a cutaneous condition caused by mutations in the Claudin 1 gene.[1]... | Neonatal ichthyosis–sclerosing cholangitis syndrome | c1843355 | 29,707 | wikipedia | https://en.wikipedia.org/wiki/Neonatal_ichthyosis%E2%80%93sclerosing_cholangitis_syndrome | 2021-01-18T19:08:34 | {"mesh": ["C564365"], "orphanet": ["59303", "5930"], "wikidata": ["Q6993484"]} |
Retropharyngeal abscess
A lateral cervical spine x-ray demonstrating prevertebral soft tissue swelling (marked by the arrow) as seen in a person with a retropharyngeal abscess.
SpecialtyOtorhinolaryngology
Retropharyngeal abscess (RPA) is an abscess located in the tissues in the back of the throat behind... | Retropharyngeal abscess | c0155843 | 29,708 | wikipedia | https://en.wikipedia.org/wiki/Retropharyngeal_abscess | 2021-01-18T18:39:04 | {"mesh": ["D017703"], "umls": ["C0155843"], "icd-9": ["478.24"], "icd-10": ["J39.0"], "wikidata": ["Q2562083"]} |
## Summary
### Clinical characteristics.
Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling ga... | Schmid Metaphyseal Chondrodysplasia | None | 29,709 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK547823/ | 2021-01-18T20:57:15 | {"synonyms": ["Metaphyseal Chondrodysplasia Type Schmid (MCDS)"]} |
Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankl... | Emery-Dreifuss muscular dystrophy | c0751337 | 29,710 | medlineplus | https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy/ | 2021-01-27T08:25:52 | {"gard": ["6329"], "mesh": ["D020389"], "omim": ["310300", "181350", "616516", "612998", "612999", "614302"], "synonyms": []} |
A number sign (#) is used with this entry because high altitude adaptation hemoglobin (HALAH) is conferred by homozygous or heterozygous variation in the EGLN1 gene (606425) on chromosome 1q42.
Description
Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an in... | HEMOGLOBIN, HIGH ALTITUDE ADAPTATION | c1836778 | 29,711 | omim | https://www.omim.org/entry/609070 | 2019-09-22T16:06:50 | {"omim": ["609070"], "synonyms": ["Alternative titles", "HEMOGLOBIN, HIGH OXYGEN SATURATION OF"]} |
Rare autosomal-recessive human disease
Friedreich's ataxia
Other namesSpinocerebellar ataxia, FRDA, FA
Frataxin
SpecialtyNeurology
SymptomsLack of coordination, balance issues, gait abnormality
ComplicationsCardiomyopathy, scoliosis, diabetes mellitus
Usual onset5–20 years
DurationLong-term
CausesGen... | Friedreich's ataxia | c1856689 | 29,712 | wikipedia | https://en.wikipedia.org/wiki/Friedreich%27s_ataxia | 2021-01-18T18:56:25 | {"gard": ["6468"], "mesh": ["C565561", "D005621"], "umls": ["C1856689", "C1847416"], "icd-10": ["G11.1"], "orphanet": ["95"], "wikidata": ["Q913856"]} |
Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of ... | Dextrocardia with situs inversus | c1395317 | 29,713 | gard | https://rarediseases.info.nih.gov/diseases/6268/dextrocardia-with-situs-inversus | 2021-01-18T18:00:53 | {"umls": ["C1395317"], "synonyms": ["Situs inversus totalis"]} |
## Summary
### Clinical characteristics.
Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance ... | Vascular Ehlers-Danlos Syndrome | None | 29,714 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1494/ | 2021-01-18T20:50:49 | {"synonyms": ["EDS Type IV; Ehlers-Danlos Syndrome", "Vascular Type; vEDS"]} |
For a general description and a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL2 (608096).
Clinical Features
Hedera et al. (2007) reported a 4-generation Caucasian family in which 11 living individuals had features consistent with mesial temporal lobe epilepsy. Ten individuals had simple part... | EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 | c1968848 | 29,715 | omim | https://www.omim.org/entry/611630 | 2019-09-22T16:03:05 | {"doid": ["0060750"], "mesh": ["C566903"], "omim": ["611630"], "orphanet": ["163717"], "synonyms": ["Alternative titles", "Benign FMTLE", "EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE"]} |
Pleomorphic anaplastic neuroblastoma (PAN) is a striking aspect of neuroblastoma first described by Cozzutto and Carbone in 1988.[1] Another case was thereafter reported by Cowan, et al. with cytogenetic and immunohistological analysis in a 28-year-old man.[2] The case described by Navarro, et al. showed MYCN amplifi... | Pleomorphic anaplastic neuroblastoma | None | 29,716 | wikipedia | https://en.wikipedia.org/wiki/Pleomorphic_anaplastic_neuroblastoma | 2021-01-18T18:36:02 | {"wikidata": ["Q7204589"]} |
Recurrent corneal erosion
Anatomy (normal) cornea
SpecialtyOphthalmology
Recurrent corneal erosion is a disorder of the eyes characterized by the failure of the cornea's outermost layer of epithelial cells to attach to the underlying basement membrane (Bowman's layer). The condition is excruciatingly painful... | Recurrent corneal erosion | c0155119 | 29,717 | wikipedia | https://en.wikipedia.org/wiki/Recurrent_corneal_erosion | 2021-01-18T19:05:13 | {"umls": ["C0155119"], "wikidata": ["Q2455180"]} |
Heterophoria
SpecialtyOptometry Ophthalmology
Heterophoria is an eye condition in which the directions that the eyes are pointing at rest position, when not performing binocular fusion, are not the same as each other, or, "not straight". This condition can be esophoria, where the eyes tend to cross inward ... | Heterophoria | c0038379 | 29,718 | wikipedia | https://en.wikipedia.org/wiki/Heterophoria | 2021-01-18T18:32:07 | {"mesh": ["D013285"], "icd-9": ["378.40"], "icd-10": ["H50.5"], "wikidata": ["Q3145111"]} |
For a general phenotypic description and discussion of genetic heterogeneity of split-hand/foot malformation with long bone deficiency, see SHFLD1 (119100).
Mapping
In a large consanguineous Arab family in the United Arab Emirates, in which split-hand/foot malformation with long bone deficiency (see SHFLD1, 119100)... | SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2 | c1861553 | 29,719 | omim | https://www.omim.org/entry/610685 | 2019-09-22T16:04:13 | {"mesh": ["C536425"], "omim": ["610685"], "orphanet": ["3329"]} |
Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confus... | Tumefactive multiple sclerosis | c0004712 | 29,720 | gard | https://rarediseases.info.nih.gov/diseases/5885/tumefactive-multiple-sclerosis | 2021-01-18T17:57:16 | {"mesh": ["D002549"], "orphanet": ["228165"], "synonyms": ["Diffuse cerebral sclerosis of Schilder", "Concentric demyelination", "Balo's concentric sclerosis", "Marburg variant", "Balo disease", "Baló concentric sclerosis", "Balo's disease", "Encephalitis periaxialis concentrica"]} |
Glutathione synthetase deficiency is a genetic metabolic disorder that affects the body’s ability to produce an important substance called glutathione. People with glutathione synthetase deficiency do not have enough of the molecule called glutathione synthetase, which helps the body produce glutathione. People with ... | Glutathione synthetase deficiency | c0398746 | 29,721 | gard | https://rarediseases.info.nih.gov/diseases/10047/glutathione-synthetase-deficiency | 2021-01-18T18:00:17 | {"mesh": ["C536835"], "omim": ["266130"], "orphanet": ["32"], "synonyms": ["5-Oxoprolinuria", "Oxoprolinase deficiency", "Pyroglutamic aciduria", "Pyroglutamicaciduria"]} |
Testicular trauma
Testicle schematic
SpecialtyUrology
Testicular trauma is an injury to one or both testicles. Types of injuries include blunt, penetrating and degloving.
Because the testes are located within the scrotum, which hangs outside of the body, they do not have the protection of muscles and bones.... | Testicular trauma | c0347653 | 29,722 | wikipedia | https://en.wikipedia.org/wiki/Testicular_trauma | 2021-01-18T18:31:43 | {"umls": ["C0347653"], "wikidata": ["Q7705864"]} |
Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.
... | Herpes simplex virus stromal keratitis | c1318020 | 29,723 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137599 | 2021-01-23T17:45:14 | {"umls": ["C1318020"], "icd-10": ["H16.3"]} |
Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. They are usually painless, ... | Brody myopathy | c1832918 | 29,724 | medlineplus | https://medlineplus.gov/genetics/condition/brody-myopathy/ | 2021-01-27T08:25:04 | {"gard": ["9158"], "mesh": ["C536607"], "omim": ["601003"], "synonyms": []} |
Ichthyosis prematurity syndrome
SpecialtyDermatology
Ichthyosis prematurity syndrome (IPS) is a dermatological disease with known genetic causes. This syndrome is a rare subcategory of autosomal recessive congenital ichthyosis (ARCI).[1] It is associated with complications in the mid-trimester of a pregnancy l... | Ichthyosis prematurity syndrome | c1837610 | 29,725 | wikipedia | https://en.wikipedia.org/wiki/Ichthyosis_prematurity_syndrome | 2021-01-18T18:36:44 | {"gard": ["9886"], "mesh": ["C536271"], "umls": ["C1837610"], "orphanet": ["88621"], "wikidata": ["Q5986451"]} |
Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.
In children with retinoblastoma, the disease often ... | Retinoblastoma | c0035335 | 29,726 | medlineplus | https://medlineplus.gov/genetics/condition/retinoblastoma/ | 2021-01-27T08:25:35 | {"gard": ["7563"], "mesh": ["D012175"], "omim": ["180200"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that pontocerebellar hypoplasia type 1D (PCH1D) is caused by homozygous or compound heterozygous mutation in the EXOSC9 gene (606180) on chromosome 4q27.
Description
Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder c... | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | None | 29,727 | omim | https://www.omim.org/entry/618065 | 2019-09-22T15:43:49 | {"omim": ["618065"]} |
Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterized by congenital ichthyosis (dry, scaly skin), intellectual disability, and spasticity (stiffness and involuntary muscle spasms). The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherite... | Sjogren-Larsson syndrome | c0037231 | 29,728 | gard | https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome | 2021-01-18T17:57:41 | {"mesh": ["D016111"], "omim": ["270200"], "orphanet": ["816"], "synonyms": ["SLS", "Fatty aldehyde dehydrogenase deficiency", "FALDH deficiency", "FADH deficiency", "FAO deficiency", "Sjögren-Larsson syndrome", "Sjogren Larsson syndrome", "Ichthyosis, spastic neurologic disorder, and oligophrenia"]} |
Area of skin becoming lighter than the baseline skin color
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: "Hypopigmentation" – news · newspapers · books · scholar · J... | Hypopigmentation | c0162835 | 29,729 | wikipedia | https://en.wikipedia.org/wiki/Hypopigmentation | 2021-01-18T19:09:07 | {"gard": ["6731"], "mesh": ["D017496"], "icd-9": ["709.0"], "icd-10": ["L80"], "wikidata": ["Q1291366"]} |
Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown.
## Clinical description
Clinical manifestations are those of other forms of congenital hypothyroidism (CH; see this term). Goiter is always absent.
## Diagnostic methods
... | Idiopathic congenital hypothyroidism | c4273913 | 29,730 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95717 | 2021-01-23T18:20:30 | {"icd-10": ["E03.1"]} |
A number sign (#) is used with this entry because of evidence that multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) is caused by homozygous mutation in the B3GAT3 gene (606374) on chromosome 11q12.
Clinical Features
Steel and Kohl (1972) descr... | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | c3278404 | 29,731 | omim | https://www.omim.org/entry/245600 | 2019-09-22T16:26:00 | {"doid": ["0080575"], "omim": ["245600"], "orphanet": ["284139"], "synonyms": ["Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "Alternative titles", "LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY"]} |
A number sign (#) is used with this entry because Leber congenital amaurosis-8 (LCA8) is caused by homozygous or compound heterozygous mutation in the CRB1 gene (604210) on chromosome 1q31.
Homozygous or compound heterozygous mutation in CRB1 can also cause retinitis pigmentosa-12 (RP12; 600105).
Description
Leber... | LEBER CONGENITAL AMAUROSIS 8 | c0339527 | 29,732 | omim | https://www.omim.org/entry/613835 | 2019-09-22T15:57:17 | {"doid": ["0110079"], "mesh": ["D057130"], "omim": ["613835"], "orphanet": ["65"], "genereviews": ["NBK531510"]} |
"Siamese twins" redirects here. For other uses, see Siamese twins (disambiguation).
Conjoined twins
Other namesSiamese twins
X-ray of conjoined twins, cephalothoracopagus.
SpecialtyMedical genetics
Conjoined twins, also known as Siamese twins, are identical twins[1] joined in utero. A very rare phenomenon... | Conjoined twins | c0041428 | 29,733 | wikipedia | https://en.wikipedia.org/wiki/Conjoined_twins | 2021-01-18T18:33:18 | {"mesh": ["D014428"], "icd-9": ["678.1", "759.4"], "icd-10": ["O33.7", "Q89.4"], "wikidata": ["Q216866"]} |
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial f... | 3q13 microdeletion syndrome | c2931338 | 29,734 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1621 | 2021-01-23T19:09:17 | {"mesh": ["C536808"], "omim": ["615433"], "umls": ["C2931338"], "icd-10": ["Q93.5"], "synonyms": ["Del(3)(q13)", "Monosomy 3q13"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (September 2012)
Qazi–Markouizos syndrome
Other namesDysharmonic skeletal maturation-muscular fiber disproportion syndrome[1]
Qazi–Markouizos syndr... | Qazi–Markouizos syndrome | c2931142 | 29,735 | wikipedia | https://en.wikipedia.org/wiki/Qazi%E2%80%93Markouizos_syndrome | 2021-01-18T19:03:11 | {"gard": ["371"], "mesh": ["C536259"], "umls": ["C2931142"], "orphanet": ["3010"], "wikidata": ["Q7267327"]} |
Congenital disorder of nervous system
Dentatorubral–pallidoluysian atrophy
Dentatorubral–pallidoluysian atrophy is inherited in an autosomal dominant manner.
SpecialtyNeurology
Dentatorubral–pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG ... | Dentatorubral–pallidoluysian atrophy | c0751779 | 29,736 | wikipedia | https://en.wikipedia.org/wiki/Dentatorubral%E2%80%93pallidoluysian_atrophy | 2021-01-18T18:29:29 | {"gard": ["5643"], "mesh": ["D020191"], "umls": ["C0751780", "C0751779", "C0751781", "C0751778", "C0751782", "C0751777", "C0751776", "UMLS_CUI:C0751781"], "orphanet": ["101"], "wikidata": ["Q2280285"]} |
Hypohidrotic ectodermal dysplasia
Other namesAnhidrotic ectodermal dysplasia, Christ-Siemens-Touraine syndrome[1]:570
This condition is inherited in an X-linked recessive manner.
SpecialtyMedical genetics
Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Bef... | Hypohidrotic ectodermal dysplasia | c0162359 | 29,737 | wikipedia | https://en.wikipedia.org/wiki/Hypohidrotic_ectodermal_dysplasia | 2021-01-18T19:04:57 | {"gard": ["10427", "76"], "mesh": ["D053358"], "umls": ["C0162359"], "icd-9": ["757.31"], "icd-10": ["Q82.4"], "orphanet": ["238468"], "wikidata": ["Q1077955"]} |
Bacillary peliosis is a form of peliosis hepatis that has been associated with bacteria in the genus Bartonella.[1]
## References[edit]
1. ^ Koehler JE, Sanchez MA, Garrido CS, et al. (December 1997). "Molecular epidemiology of bartonella infections in patients with bacillary angiomatosis-peliosis". N. Engl. ... | Bacillary peliosis | c0343770 | 29,738 | wikipedia | https://en.wikipedia.org/wiki/Bacillary_peliosis | 2021-01-18T18:58:13 | {"mesh": ["D016917"], "umls": ["C0343770"], "wikidata": ["Q4838947"]} |
A superficial acral fibromyxoma is a type of myxoma and is a rare cutaneous condition characterized by a mesenchymal neoplasm that typically occurs on the digits of middle-aged adults.[1]:1817
## See also[edit]
* Skin lesion
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L.... | Superficial acral fibromyxoma | c4055500 | 29,739 | wikipedia | https://en.wikipedia.org/wiki/Superficial_acral_fibromyxoma | 2021-01-18T18:31:09 | {"umls": ["C4055500"], "wikidata": ["Q7643293"]} |
A number sign (#) is used with this entry because autosomal recessive neuromyotonia and axonal neuropathy (NMAN) is caused by homozygous or compound heterozygous mutation in the HINT1 gene (601314) on chromosome 5q23.
Description
NMAN is an autosomal recessive neurologic disorder characterized by onset in the f... | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE | c0242287 | 29,740 | omim | https://www.omim.org/entry/137200 | 2019-09-22T16:40:50 | {"doid": ["0050526"], "mesh": ["D020386"], "omim": ["137200"], "orphanet": ["324442"], "synonyms": ["ARCMT2-NM", "GAMSTORP-WOHLFART SYNDROME", "MYOKYMIA, MYOTONIA, AND MUSCLE WASTING", "Alternative titles", "ARAN-NM", "Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia"]} |
An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.
## Epidemiolog... | Atypical Werner syndrome | c4275075 | 29,741 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79474 | 2021-01-23T17:10:48 | {"gard": ["11910"], "icd-10": ["E34.8"], "synonyms": ["Atypical progeroid syndrome"]} |
Benzodiazepine use disorder
Other namesBenzodiazepine drug misuse
SpecialtyPsychiatry
Benzodiazepines
The core structure of benzodiazepines. "R" labels denote common locations of side chains, which give different benzodiazepines their unique properties.
* Pronunciation: /ˌbɛnzoʊdaɪˈæzəpiːn/
* Benz... | Benzodiazepine use disorder | None | 29,742 | wikipedia | https://en.wikipedia.org/wiki/Benzodiazepine_use_disorder | 2021-01-18T18:34:19 | {"wikidata": ["Q15043325"]} |
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.
*[v]: View this t... | Nephrosis-deafness-urinary tract-digital malformations syndrome | c1850552 | 29,743 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2669 | 2021-01-23T18:37:15 | {"gard": ["3943"], "mesh": ["C536402"], "omim": ["256200"], "umls": ["C1850552"], "icd-10": ["Q87.8"], "synonyms": ["Braun-Bayer syndrome", "Nephrosis-hearing loss-urinary tract-digital malformations syndrome"]} |
This article is about the catatonic state. For other uses, see Catatonia (disambiguation).
Not to be confused with Katatonia, cataplexy, catalepsy, or Catalonia.
Catatonia
Other namesCatatonic syndrome
A patient in catatonic stupor
SpecialtyPsychiatry
Catatonia is a neuropsychiatric behavioral syndrome t... | Catatonia | c0007398 | 29,744 | wikipedia | https://en.wikipedia.org/wiki/Catatonia | 2021-01-18T18:40:44 | {"mesh": ["D002389"], "icd-9": ["295.2"], "icd-10": ["F20.2"], "wikidata": ["Q501571"]} |
Pseudomyopia
SpecialtyOphthalmology Optometry
SymptomsBlurring of vision, Asthenopia
Pseudomyopia occurs when a spasm of the ciliary muscle prevents the eye from focusing in the distance, sometimes intermittently; this is different from myopia which is caused by the eye's shape or other basic anatomy. Ps... | Pseudomyopia | c3888581 | 29,745 | wikipedia | https://en.wikipedia.org/wiki/Pseudomyopia | 2021-01-18T18:30:21 | {"wikidata": ["Q7255153"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-52 (MRD52) is caused by heterozygous mutation in the ASH1L gene (607999) on chromosome 1q22.
Clinical Features
De Ligt et al. (2012) reported a boy (parent/child trio 66) with severe intellectual disability, abs... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | c4540478 | 29,746 | omim | https://www.omim.org/entry/617796 | 2019-09-22T15:44:45 | {"omim": ["617796"]} |
A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.
## Epidemiology
The incidence of epidermal nevus (EN) (isolated finding or as a syndrome) is estimated at 1-... | Linear nevus sebaceus syndrome | c0265329 | 29,747 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2612 | 2021-01-23T18:01:26 | {"gard": ["10291"], "mesh": ["D054000"], "omim": ["163200"], "umls": ["C0265329", "C3854181"], "icd-10": ["Q85.8"], "synonyms": ["Nevus sebaceus of Jadassohn", "Nevus sebaceus syndrome", "Organoid nevus syndrome", "Schimmelpenning syndrome", "Solomon syndrome"]} |
A number sign (#) is used with this entry because osteogenesis imperfecta type XI (OI11) is caused by homozygous or compound heterozygous mutation in the FKBP10 gene (607063) on chromosome 17q21.
Description
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragilit... | OSTEOGENESIS IMPERFECTA, TYPE XI | c0268362 | 29,748 | omim | https://www.omim.org/entry/610968 | 2019-09-22T16:03:52 | {"doid": ["0110351"], "mesh": ["C536044"], "omim": ["610968"], "orphanet": ["216812", "216820", "666"], "synonyms": ["Alternative titles", "OI, TYPE XI"]} |
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, ... | Ohdo syndrome, Maat-Kievit-Brunner type | c3698541 | 29,749 | medlineplus | https://medlineplus.gov/genetics/condition/ohdo-syndrome-maat-kievit-brunner-type/ | 2021-01-27T08:25:18 | {"omim": ["300895"], "synonyms": []} |
Hypoparathyroidism
SpecialtyEndocrinology
Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone. This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several ... | Hypoparathyroidism | c0020626 | 29,750 | wikipedia | https://en.wikipedia.org/wiki/Hypoparathyroidism | 2021-01-18T19:09:05 | {"gard": ["6733"], "mesh": ["D007011"], "umls": ["C0020626"], "orphanet": ["2238", "2239", "181405", "189466"], "wikidata": ["Q1586088"]} |
Medication-induced hyperlipoproteinemia
SpecialtyDermatology
Medication-induced hyperlipoproteinemia is a condition that results from the decreasing of lipoprotein lipase activity resulting in eruptive xanthomas.[1]:535
## See also[edit]
* Normolipoproteinemic xanthomatosis
* Cerebrotendinous xanthom... | Medication-induced hyperlipoproteinemia | None | 29,751 | wikipedia | https://en.wikipedia.org/wiki/Medication-induced_hyperlipoproteinemia | 2021-01-18T18:53:49 | {"wikidata": ["Q6806655"]} |
A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the APP gene (21q21.2), e... | ABeta amyloidosis, Iowa type | c2931672 | 29,752 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324708 | 2021-01-23T19:00:16 | {"mesh": ["C537944"], "omim": ["605714"], "icd-10": ["E85.4+", "I68.0*"], "synonyms": ["ABetaD23N amyloidosis", "HCHWA, Iowa type", "Hereditary cerebral hemorrhage with amyloidosis, Iowa type"]} |
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (June 2014) (Learn how and when to remove this template message)
Ciliary Body Melanoma is a t... | Ciliary body melanoma | c0346379 | 29,753 | wikipedia | https://en.wikipedia.org/wiki/Ciliary_body_melanoma | 2021-01-18T18:33:21 | {"umls": ["C0346379"], "wikidata": ["Q5119947"]} |
This article has an unclear citation style. The references used may be made clearer with a different or consistent style of citation and footnoting. (August 2018) (Learn how and when to remove this template message)
Anemia caused by a nutritional disorder
Nutritional anemia
SpecialtyHematology
Symptomsf... | Nutritional anemia | c0041782 | 29,754 | wikipedia | https://en.wikipedia.org/wiki/Nutritional_anemia | 2021-01-18T19:07:05 | {"umls": ["C0041782"], "icd-10": ["D53"], "orphanet": ["248293"], "wikidata": ["Q7070519"]} |
Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscl... | Spinal muscular atrophy 1 | c0043116 | 29,755 | gard | https://rarediseases.info.nih.gov/diseases/7883/spinal-muscular-atrophy-1 | 2021-01-18T17:57:37 | {"mesh": ["D014897"], "omim": ["253300"], "umls": ["C0043116"], "orphanet": ["83330"], "synonyms": ["Werdnig-Hoffmann disease", "Werdnig Hoffmann disease", "Muscular atrophy, infantile", "SMA1", "SMA, infantile acute form", "Proximal spinal muscular atrophy, type 1", "Proximal spinal muscular atrophy type 1", "SMA type... |
Siderosis
Other namesPulmonary siderosis, welder's disease
Iron
SpecialtyRespirology
Siderosis is the deposition of excess iron in body tissue. When used without qualification, it usually refers to an environmental disease of the lung, also known more specifically as pulmonary siderosis or Welder's disease... | Siderosis | c0037061 | 29,756 | wikipedia | https://en.wikipedia.org/wiki/Siderosis | 2021-01-18T19:09:26 | {"gard": ["7645"], "mesh": ["D012806"], "umls": ["C0037061"], "icd-9": ["503"], "wikidata": ["Q1413860"]} |
Conjugate gaze palsy
SpecialtyNeurology
Conjugate gaze palsies are neurological disorders affecting the ability to move both eyes in the same direction. These palsies can affect gaze in a horizontal, upward, or downward direction.[1] These entities overlap with ophthalmoparesis and ophthalmoplegia.
## Con... | Conjugate gaze palsy | c0702143 | 29,757 | wikipedia | https://en.wikipedia.org/wiki/Conjugate_gaze_palsy | 2021-01-18T19:05:38 | {"umls": ["C0702143"], "icd-10": ["H51.0"], "wikidata": ["Q884023"]} |
This article needs attention from an expert in neurology. Please add a reason or a talk parameter to this template to explain the issue with the article. WikiProject Neurology may be able to help recruit an expert. (February 2009)
Foerster's syndrome is the name used by Arthur Koestler in his account[1] of t... | Foerster's syndrome | None | 29,758 | wikipedia | https://en.wikipedia.org/wiki/Foerster%27s_syndrome | 2021-01-18T18:47:24 | {"wikidata": ["Q5464019"]} |
A number sign (#) is used with this entry because of evidence that isolated congenital vertical talus (CVT) is caused by heterozygous mutation in the HOXD10 gene (142984) on chromosome 2q31.
Description
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicu... | VERTICAL TALUS, CONGENITAL | c0240912 | 29,759 | omim | https://www.omim.org/entry/192950 | 2019-09-22T16:31:59 | {"mesh": ["D005413"], "omim": ["192950"], "orphanet": ["178382"], "synonyms": ["Alternative titles", "ROCKER-BOTTOM FOOT", "PES VALGUS, CONGENITAL CONVEX"]} |
## Clinical Features
Among 314 patients with classic myasthenia gravis (MG; 254200), Oh and Kuruoglu (1992) found 12 (3.8%) who presented with chronic limb-girdle myasthenia. None of the 12 patients had oculobulbar involvement, which had initially excluded the diagnosis of myasthenia gravis. Disease onset occurred ... | MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE | c0026896 | 29,760 | omim | https://www.omim.org/entry/159400 | 2019-09-22T16:37:52 | {"mesh": ["D009157"], "omim": ["159400"], "orphanet": ["589"], "synonyms": ["Alternative titles", "MYASTHENIA GRAVIS, LIMB-GIRDLE"]} |
A number sign (#) is used with this entry because this form of complete congenital stationary night blindness (CSNB1E) is caused by homozygous or compound heterozygous mutation in the GPR179 gene (614515) on chromosome 17q12.
Description
Complete congenital stationary night blindness (cCSNB) is a clinically and gen... | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E | c0339535 | 29,761 | omim | https://www.omim.org/entry/614565 | 2019-09-22T15:54:52 | {"doid": ["0110869"], "mesh": ["C536122"], "omim": ["614565"], "orphanet": ["215"], "synonyms": ["Alternative titles", "CSNB, COMPLETE, AUTOSOMAL RECESSIVE"]} |
## Description
Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996).
For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720).
Mapping
In a ... | BILIARY CIRRHOSIS, PRIMARY, 3 | c0008312 | 29,762 | omim | https://www.omim.org/entry/613008 | 2019-09-22T16:00:04 | {"doid": ["12236"], "mesh": ["D008105"], "omim": ["613008"], "orphanet": ["186"]} |
Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c... | Muir-Torre syndrome | c1321489 | 29,763 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=587 | 2021-01-23T17:03:41 | {"gard": ["6821"], "mesh": ["D055653"], "omim": ["158320"], "umls": ["C1321489"], "icd-10": ["L72.8"], "synonyms": ["Multiple keratoacanthoma, Muir-Torre type"]} |
This article is about the disorder. For the emotion, see Social anxiety.
Not to be confused with Seasonal affective disorder.
Social anxiety disorder
Other namesSocial phobia
SpecialtyPsychiatry
SymptomsSocial isolation, hypervigilance, feeling of inferiority, low self-esteem, difficulty socializing with othe... | Social anxiety disorder | c0031572 | 29,764 | wikipedia | https://en.wikipedia.org/wiki/Social_anxiety_disorder | 2021-01-18T18:31:22 | {"mesh": ["D000072861"], "umls": ["C0031572"], "wikidata": ["Q281928"]} |
A number sign (#) is used with this entry because of evidence that gelatinous drop-like corneal dystrophy (GDLD) can be caused by homozygous or compound heterozygous mutation in the M1S1 gene (TACSTD2; 137290), which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.
D... | CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE | c0339273 | 29,765 | omim | https://www.omim.org/entry/204870 | 2019-09-22T16:31:07 | {"doid": ["0060449"], "mesh": ["C535480"], "omim": ["204870"], "orphanet": ["98957"], "synonyms": ["Alternative titles", "CDGDL", "AMYLOIDOSIS, CORNEAL", "AMYLOID CORNEAL DYSTROPHY, JAPANESE TYPE", "CORNEAL DYSTROPHY, LATTICE TYPE III", "LATTICE CORNEAL DYSTROPHY, TYPE III"]} |
Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that affects the liver. People with this condition experience episodes of cholestasis, during which the liver cells have a reduced ability to release bile (a digestive fluid). Episodes generally begin in the late teens or early twenties and may be a... | Benign recurrent intrahepatic cholestasis | c0149841 | 29,766 | gard | https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis | 2021-01-18T18:01:50 | {"orphanet": ["65682"], "synonyms": ["BRIC", "Summerskill-Walshe-Tygstrup syndrome"]} |
Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.
*[v]: View this template
*[t]: Discuss this template
*... | Good syndrome | c0221027 | 29,767 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169105 | 2021-01-23T18:04:27 | {"gard": ["8622"], "umls": ["C0221027"], "synonyms": ["Thymoma-immunodeficiency syndrome"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to nonmedullary thyroid cancer-1 (NMTC1) is conferred by heterozygous mutation in the thyroid transcription factor-1 gene (TITF1), also known as NK2 homeobox-1 (NKX2-1; 600635), on chromosome 14q13.
Description
Nonmedullary thyroid ca... | THYROID CANCER, NONMEDULLARY, 1 | c0238463 | 29,768 | omim | https://www.omim.org/entry/188550 | 2019-09-22T16:32:34 | {"doid": ["3969"], "mesh": ["D000077273"], "omim": ["188550"], "orphanet": ["146", "319487"], "synonyms": ["Alternative titles", "PAPILLARY CARCINOMA OF THYROID", "FAMILIAL NONMEDULLARY THYROID CANCER, PAPILLARY", "NONMEDULLARY THYROID CARCINOMA, PAPILLARY"]} |
Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use. People with Fanconi B... | Fanconi Bickel syndrome | c3495427 | 29,769 | gard | https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome | 2021-01-18T18:00:31 | {"mesh": ["D005198"], "omim": ["227810"], "orphanet": ["2088"], "synonyms": ["Hepatorenal glycogenosis with renal Fanconi syndrome", "Hepatorenal glycogenosis with renal fanconi syndrome", "Hepatic glycogenosis with amino aciduria and glucosuria", "Fanconi syndrome with intestinal malabsorption and galactose intoleranc... |
Flock worker's lung
Flocked fabric
SpecialtyPulmonology
Flock worker's lung is an occupational lung disease caused by exposure to flock, small fibers that are glued to a backing in order to create a specific texture. People who work in flocking are at risk of inhaling small pieces of the flock fibers, which ... | Flock worker's lung | None | 29,770 | wikipedia | https://en.wikipedia.org/wiki/Flock_worker%27s_lung | 2021-01-18T18:33:46 | {"wikidata": ["Q21469816"]} |
Adrenocortical Adenoma
Other namesAdrenal cortical adenoma, adrenal adenoma
Adrenal adenoma in a patient with Conn syndrome
SpecialtyEndocrinology, oncology
Adrenocortical adenoma is commonly described as a benign neoplasm emerging from the cells that comprise the adrenal cortex. Like most adenomas, the ad... | Adrenocortical adenoma | c0206667 | 29,771 | wikipedia | https://en.wikipedia.org/wiki/Adrenocortical_adenoma | 2021-01-18T18:40:40 | {"mesh": ["D018246"], "wikidata": ["Q4684749"]} |
The hoof of a foal with HWSD
HWSD causes the layers within the dorsal hoof wall (brown, far right) to separate from each other
Hoof wall separation disease, (HWSD), is an autosomal recessive genetic hoof disease in horses.[1] Research is being carried out at, among others, UC Davis School of Veterinary Medicine... | Hoof wall separation disease | None | 29,772 | wikipedia | https://en.wikipedia.org/wiki/Hoof_wall_separation_disease | 2021-01-18T18:57:27 | {"wikidata": ["Q19869193"]} |
A number sign (#) is used with this entry because of evidence that glucocorticoid deficiency-4 with or without mineralocorticoid deficiency (GCCD4) is caused by homozygous or compound heterozygous mutation in the NNT gene (607878) on chromosome 5p12.
Description
Familial glucocorticoid deficiency is a rare autosoma... | GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY | c3553587 | 29,773 | omim | https://www.omim.org/entry/614736 | 2019-09-22T15:54:21 | {"omim": ["614736", "202200"], "orphanet": ["361"], "synonyms": []} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (July 2011)
Pseudodyssynergia
SpecialtyUrology
Pseudodyssynergia (or detrusor sphincter pseudodyssynergia) is an urological condition involving con... | Pseudodyssynergia | None | 29,774 | wikipedia | https://en.wikipedia.org/wiki/Pseudodyssynergia | 2021-01-18T18:48:25 | {"wikidata": ["Q7254768"]} |
Brill–Zinsser disease
SpecialtyInfectious disease
Brill–Zinsser disease is a delayed relapse of epidemic typhus, caused by Rickettsia prowazekii. After a patient contracts epidemic typhus from the fecal matter of an infected louse (Pediculus humanus), the rickettsia can remain latent and reactivate months or y... | Brill–Zinsser disease | c0006181 | 29,775 | wikipedia | https://en.wikipedia.org/wiki/Brill%E2%80%93Zinsser_disease | 2021-01-18T19:10:54 | {"mesh": ["D014438"], "umls": ["C0006181"], "orphanet": ["99990"], "wikidata": ["Q253332"]} |
A number sign (#) is used with this entry because susceptibility to idiopathic generalized epilepsy-12 (EIG12) is conferred by heterozygous mutation in the SLC2A1 gene (138140) on chromosome 1p34.
Allelic disorders with overlapping features include GLUT1 deficiency syndrome-1 (GLUT1DS1; 606777), GLUT1 deficiency... | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 | c3553859 | 29,776 | omim | https://www.omim.org/entry/614847 | 2019-09-22T15:54:04 | {"omim": ["614847"]} |
A number sign (#) is used with this entry because paroxysmal extreme pain disorder (PEXPD, or PEPD) is caused by heterozygous mutation in the SCN9A gene (603415) on chromosome 2q24.
Description
Paroxysmal extreme pain disorder, formerly known as familial rectal pain, is characterized by paroxysms of rectal, ocular,... | PAROXYSMAL EXTREME PAIN DISORDER | c1833661 | 29,777 | omim | https://www.omim.org/entry/167400 | 2019-09-22T16:36:46 | {"mesh": ["C563475"], "omim": ["167400"], "orphanet": ["46348"], "synonyms": ["Alternative titles", "PEXPD", "PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "RECTAL PAIN, FAMILIAL"]} |
Purpura fulminans (PF) is a life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-size... | Acquired purpura fulminans | c0043068 | 29,778 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49566 | 2021-01-23T18:49:10 | {"mesh": ["D055665", "D014884"], "umls": ["C0043068", "C0085650"], "icd-10": ["D65"]} |
A number sign (#) is used with this entry because primary ciliary dyskinesia-19 (CILD19) with or without situs inversus is caused by homozygous mutation in the LRRC6 (614930) on chromosome 8q24.
Description
Primary ciliary dyskinesia-19 is an autosomal recessive ciliopathy characterized by chronic sinopulmonary inf... | CILIARY DYSKINESIA, PRIMARY, 19 | c3543826 | 29,779 | omim | https://www.omim.org/entry/614935 | 2019-09-22T15:53:44 | {"doid": ["0110608"], "omim": ["614935", "244400"], "orphanet": ["244"], "synonyms": ["CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS", "Alternative titles", "PCD"], "genereviews": ["NBK1122"]} |
Codocytes in human blood (Giemsa stain)
Codocytes, also known as target cells, are red blood cells that have the appearance of a shooting target with a bullseye. In optical microscopy these cells appear to have a dark center (a central, hemoglobinized area) surrounded by a white ring (an area of relative pallor), fo... | Codocyte | None | 29,780 | wikipedia | https://en.wikipedia.org/wiki/Codocyte | 2021-01-18T19:10:22 | {"umls": ["C0221284"], "wikidata": ["Q3515681"]} |
Jumping to conclusions (officially the jumping conclusion bias, often abbreviated as JTC, and also referred to as the inference-observation confusion[1]) is a psychological term referring to a communication obstacle where one "judge[s] or decide[s] something without having all the facts; to reach unwarranted conc... | Jumping to conclusions | None | 29,781 | wikipedia | https://en.wikipedia.org/wiki/Jumping_to_conclusions | 2021-01-18T18:55:05 | {"wikidata": ["Q6311334"]} |
Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood. People who develop ARDS often are very ill with another disease or have major injuries. The condition leads to a buildup of fluid in the air sacs which prevents eno... | Acute respiratory distress syndrome | c0035222 | 29,782 | gard | https://rarediseases.info.nih.gov/diseases/5698/acute-respiratory-distress-syndrome | 2021-01-18T18:02:17 | {"mesh": ["D012128"], "synonyms": ["ARDS", "Acute lung injury", "ALI", "Adult respiratory distress syndrome", "Respiratory distress syndrome, adult", "Increased-permeability pulmonary edema", "Non-cardiogenic pulmonary edema", "Shock lung", "Stiff lung"]} |
A number sign (#) is used with this entry because 17-beta hydroxysteroid dehydrogenase III deficiency, resulting in male pseudohermaphroditism or polycystic ovary disease, is caused by homozygous or compound heterozygous mutation in the HSD17B3 gene (605573) on chromosome 9q22.
Description
HSD17B3 deficiency is an ... | 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY | c0268296 | 29,783 | omim | https://www.omim.org/entry/264300 | 2019-09-22T16:23:05 | {"mesh": ["C537805"], "omim": ["264300"], "orphanet": ["752"], "synonyms": ["Alternative titles", "17-KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS", "17-KSR DEFICIENCY", "NEUTRAL 17-BETA-HYDROXYSTEROID OXIDOREDUCTASE DEFICIENCY", "PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA"]} |
A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia,... | Acute pure sensory neuropathy | None | 29,784 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231450 | 2021-01-23T18:32:46 | {"icd-10": ["G61.0"], "synonyms": ["Acute pure sensory GBS", "Acute pure sensory Guillain-Barré syndrome"]} |
"Underfeeding" redirects here. For the concept in metalworking, see Underfeeder.
Medical condition that results from eating too little, too much, or the wrong nutrients
Malnutrition
Other namesMalnourishment
A malnourished child in an MSF treatment tent in Dolo Ado.
SpecialtyCritical care medicine
SymptomsP... | Malnutrition | c0162429 | 29,785 | wikipedia | https://en.wikipedia.org/wiki/Malnutrition | 2021-01-18T18:38:49 | {"mesh": ["D044342"], "umls": ["C0162429"], "icd-9": ["269.8", "269"], "icd-10": ["E46"], "wikidata": ["Q12167"]} |
A number sign (#) is used with this entry because of evidence that multiple synostoses syndrome-4 (SYNS4) is caused by heterozygous mutation in the GDF6 gene (601147) on chromosome 8q22.
Description
Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive heari... | MULTIPLE SYNOSTOSES SYNDROME 4 | c4693531 | 29,786 | omim | https://www.omim.org/entry/617898 | 2019-09-22T15:44:29 | {"omim": ["617898"]} |
Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon ref... | Spinocerebellar ataxia type 43 | c4015635 | 29,787 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=497764 | 2021-01-23T17:28:34 | {"omim": ["617017"], "icd-10": ["G11.0"], "synonyms": ["SCA43"]} |
Chondrosarcoma
Histopathologic image of chondrosarcoma of the chest wall. Surgical resection of recurrent mass. H & E stain.
SpecialtyOncology
Chondrosarcoma is a bone sarcoma, a primary cancer composed of cells derived from transformed cells that produce cartilage.[1] A chondrosarcoma is a member of a categ... | Chondrosarcoma | c0008479 | 29,788 | wikipedia | https://en.wikipedia.org/wiki/Chondrosarcoma | 2021-01-18T18:35:10 | {"gard": ["6055", "6004"], "mesh": ["D002813"], "umls": ["C0008479", "C1335473"], "icd-9": ["170.9"], "orphanet": ["55880"], "wikidata": ["Q1076087"]} |
For other uses, see Amnesia (disambiguation).
"Amnesiac" redirects here. For the Radiohead album, see Amnesiac (album). For the 2014 film, see Amnesiac (film).
Cognitive disorder where the memory is disturbed or lost
This article has multiple issues. Please help improve it or discuss these issues on the talk p... | Amnesia | c0002622 | 29,789 | wikipedia | https://en.wikipedia.org/wiki/Amnesia | 2021-01-18T19:00:07 | {"mesh": ["D000647"], "umls": ["C0002625", "C0002622"], "wikidata": ["Q11072"]} |
A number sign (#) is used with this entry because insulin-resistant diabetes mellitus with acanthosis nigricans can be caused by heterozygous, homozygous, or compound heterozygous mutation in the INSR gene (147670) on chromosome 19p13.
Clinical Features
Kahn et al. (1976) divided the syndrome of insulin resista... | DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS | c0342336 | 29,790 | omim | https://www.omim.org/entry/610549 | 2019-09-22T16:04:23 | {"omim": ["610549"], "orphanet": ["2297"], "synonyms": ["Alternative titles", "INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS", "DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A", "IRAN, TYPE A"]} |
A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vi... | IRVAN syndrome | c3665812 | 29,791 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209943 | 2021-01-23T18:15:40 | {"gard": ["12868"], "umls": ["C3665812"], "icd-10": ["H35.0"], "synonyms": ["Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome"]} |
A number sign (#) is used with this entry because of evidence that hepatic venoocclusive disease with immunodeficiency (VODI) is caused by homozygous mutation in the SP110 gene (604457) on chromosome 2q37.
Description
Hepatic venoocclusive disease with immunodeficiency syndrome (VODI) is an autosomal recessive prim... | HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY | c1856128 | 29,792 | omim | https://www.omim.org/entry/235550 | 2019-09-22T16:27:08 | {"mesh": ["C537257"], "omim": ["235550"], "orphanet": ["79124"], "genereviews": ["NBK1271"]} |
Polizzi et al. (1999) described a 5-year-old Italian boy with hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses. The authors stated that this was the first Caucasian patient reported with this disorder, which had previously been described in 10 male Oriental patients, 2 of whom were s... | HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES | c1970936 | 29,793 | omim | https://www.omim.org/entry/300184 | 2019-09-22T16:20:44 | {"mesh": ["C537159"], "omim": ["300184"]} |
Gurrieri et al. (2001) reported a brother and sister with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. Gurrieri et al. (2004) observed 2 unrelated patients with similar featur... | ROBIN SEQUENCE WITH DISTINCTIVE FACIAL APPEARANCE AND BRACHYDACTYLY | c1837564 | 29,794 | omim | https://www.omim.org/entry/608670 | 2019-09-22T16:07:23 | {"mesh": ["C563880"], "omim": ["608670"], "orphanet": ["364577"]} |
Interstitial granulomatous dermatitis with arthritis
Other namesAckerman dermatitis syndrome, IGDA
SpecialtyDermatology
Interstitial granulomatous dermatitis with arthritis (IGDA) or Ackerman dermatitis syndrome is a skin condition that most commonly presents with symmetrical round-to-oval red or violet plaq... | Interstitial granulomatous dermatitis with arthritis | c1860167 | 29,795 | wikipedia | https://en.wikipedia.org/wiki/Interstitial_granulomatous_dermatitis_with_arthritis | 2021-01-18T18:59:36 | {"mesh": ["C538170"], "orphanet": ["79099"], "synonyms": ["Ackerman dermatitis syndrome", "Ackerman syndrome", "IGDA"], "wikidata": ["Q16894392"]} |
In the United States, the prevalence of essential hypertension is greater among blacks than among whites in all ages after young adulthood (Cornoni-Huntley et al., 1989). A variety of genetic and environmental factors have been proposed to account for the racial differences in the prevalence and severity of hyper... | ISOPROTERENOL-MEDIATED VASODILATATION | c1833276 | 29,796 | omim | https://www.omim.org/entry/600801 | 2019-09-22T16:15:47 | {"omim": ["600801"]} |
Hypertension occurring during pregnancy
Pre-eclampsia
Other namesPreeclampsia toxaemia (PET)
A micrograph showing hypertrophic decidual vasculopathy, a finding seen in gestational hypertension and pre-eclampsia. H&E stain.
SpecialtyObstetrics
SymptomsHigh blood pressure, protein in the urine[1]
Complicatio... | Pre-eclampsia | c0032914 | 29,797 | wikipedia | https://en.wikipedia.org/wiki/Pre-eclampsia | 2021-01-18T18:36:08 | {"mesh": ["D011225"], "umls": ["C0032914"], "icd-9": ["642.4"], "orphanet": ["275555"], "wikidata": ["Q61335"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-2A (DFNA2A) is caused by heterozygous mutation in the KCNQ4 gene (603537) on chromosome 1p34.2
See also DFNA2B (612644), which is caused by mutation in the GJB3 gene (603324) on chromosome 1p34.3.
Clinical Features
C... | DEAFNESS, AUTOSOMAL DOMINANT 2A | c2677637 | 29,798 | omim | https://www.omim.org/entry/600101 | 2019-09-22T16:16:40 | {"doid": ["0110558"], "mesh": ["C567441"], "omim": ["600101"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolate... |
Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements. Peroxisome biogenesis disorders, in turn, are part of... | Refsum disease, infantile form | c0282527 | 29,799 | gard | https://rarediseases.info.nih.gov/diseases/4648/refsum-disease-infantile-form | 2021-01-18T17:58:00 | {"mesh": ["D052919"], "omim": ["266510"], "umls": ["C0282527"], "orphanet": ["772"], "synonyms": ["Infantile Refsum disease", "IRD", "Infantile form of phytanic acid storage disease"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.