text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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Surface epithelial-stromal tumor
High magnification micrograph of a Brenner tumor, a type of surface epithelial-stromal tumor. H&E stain.
SpecialtyOncology
Surface epithelial-stromal tumors are a class of ovarian neoplasms that may be benign or malignant. Neoplasms in this group are thought to be derived... | Surface epithelial-stromal tumor | c0341823 | 700 | wikipedia | https://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor | 2021-01-18T19:00:04 | {"gard": ["9362"], "mesh": ["C538090"], "umls": ["C0341823"], "icd-9": ["183", "220"], "icd-10": ["D27", "C56"], "wikidata": ["Q7645976"]} |
## Clinical Features
Mendoza and Valiente (1997) described an apparently 'new' autosomal dominant ectodermal dysplasia syndrome, which they designated odontotrichoungual-digital-palmar syndrome. In 2 brothers, their mother, and 18 other relatives in 5 generations, the authors observed natal teeth, trichodystrop... | ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME | c1865998 | 701 | omim | https://www.omim.org/entry/601957 | 2019-09-22T16:14:08 | {"mesh": ["C566598"], "omim": ["601957"], "orphanet": ["69082"], "synonyms": ["Alternative titles", "OTUDP SYNDROME"]} |
A rare vulvar carcinoma characterized by a slowly growing ulcer or nodule which is histologically composed of demarcated nests of palisaded basal cells originating at the epidermal-dermal junction. Occasionally, the tumor may be extensively pigmented. Patients most commonly present with pruritus. The lesion is usuall... | Vulvar basal cell carcinoma | c1336977 | 702 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=494451 | 2021-01-23T19:07:39 | {"synonyms": ["Basal cell carcinoma of vulva"]} |
Comings et al. (1967) reported 2 brothers, offspring of a first-cousin marriage, who had different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. One of the brothers had fibrotic contracture of the fingers. Goldbach ... | FIBROSCLEROSIS, MULTIFOCAL | c0035357 | 703 | omim | https://www.omim.org/entry/228800 | 2019-09-22T16:27:52 | {"mesh": ["D012185"], "omim": ["228800"], "icd-10": ["M35.5"], "orphanet": ["49041"], "synonyms": ["Alternative titles", "MEDIASTINAL FIBROSIS, FAMILIAL", "RETROPERITONEAL FIBROSIS, FAMILIAL"]} |
Spastic quadriplegia
SpecialtyNeurology
Spastic quadriplegia, also known as spastic tetraplegia, is a subset of spastic cerebral palsy that affects all four limbs (both arms and legs).
Compared to quadriplegia, spastic tetraplegia is defined by spasticity of the limbs as opposed to strict paralysis. It is dis... | Spastic quadriplegia | c0426970 | 704 | wikipedia | https://en.wikipedia.org/wiki/Spastic_quadriplegia | 2021-01-18T18:50:47 | {"mesh": ["D011782"], "umls": ["C0426970"], "icd-10": ["G80.0"], "orphanet": ["210141"], "wikidata": ["Q3985306"]} |
An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypopl... | Aniridia-ptosis-intellectual disability-familial obesity syndrome | None | 705 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1067 | 2021-01-23T17:35:27 | {"gard": ["689"]} |
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.
## Epidemiology
Since the first publication in 1991, only 11 patients have been described.
## Clinical description
N... | PAGOD syndrome | c1859967 | 706 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=991 | 2021-01-23T18:10:16 | {"gard": ["3086"], "mesh": ["C537018"], "omim": ["202660"], "icd-10": ["Q87.8"], "synonyms": ["Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome"]} |
Sinoatrial arrest
Other namesSinus arrest or Sinus pause
SpecialtyCardiology
Sinoatrial arrest is a medical condition wherein the sinoatrial node of the heart transiently ceases to generate the electrical impulses that normally stimulate the myocardial tissues to contract and thus the heart to beat. It is de... | Sinoatrial arrest | c1955864 | 707 | wikipedia | https://en.wikipedia.org/wiki/Sinoatrial_arrest | 2021-01-18T18:55:58 | {"mesh": ["D054138"], "umls": ["CL474064", "C1955864", "C0178428"], "wikidata": ["Q7524810"]} |
## Cloning and Expression
Sargent et al. (1994) suggested that the human glycerol kinase gene family consists of at least 3 expressed loci. The GK gene (300474) on Xp21 is probably ancestral to several other genes which, because they are intronless, are suspected of having arisen by reverse transcriptase mediat... | GLYCEROL KINASE 3 PSEUDOGENE | c3887941 | 708 | omim | https://www.omim.org/entry/600149 | 2019-09-22T16:16:32 | {"omim": ["600149"], "synonyms": ["Alternative titles", "GLYCEROL KINASE, TESTICULAR, TYPE B", "GKP3"]} |
A number sign (#) is used with this entry because variation in several different genes influences susceptibility and resistance to malaria, as well as disease progression and severity. These genes include HBB (141900), ICAM1 (147840), CD36 (173510), CR1 (120620), GYPA (617922), GYPB (617923), GYPC (110750), TNF (1911... | MALARIA, SUSCEPTIBILITY TO | c0024530 | 709 | omim | https://www.omim.org/entry/611162 | 2019-09-22T16:03:32 | {"mesh": ["D008288"], "omim": ["611162"], "orphanet": ["673"]} |
A number sign (#) is used with this entry because of evidence that hypoplastic left heart syndrome-1 (HLHS1) is caused by mutation in the GJA1 gene (121014) on chromosome 6q22.
Description
Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arterios... | HYPOPLASTIC LEFT HEART SYNDROME 1 | c0152101 | 710 | omim | https://www.omim.org/entry/241550 | 2019-09-22T16:26:33 | {"doid": ["9955"], "mesh": ["D018636"], "omim": ["241550"], "orphanet": ["2248"], "synonyms": ["Alternative titles", "HLHS"]} |
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.
## Epidemiology
Prevalence is unknown, but the disease appea... | Neurofibromatosis type 6 | c1861975 | 711 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2678 | 2021-01-23T18:59:35 | {"gard": ["3967"], "mesh": ["C537421"], "omim": ["114030"], "umls": ["C1861975"], "icd-10": ["L81.3"], "synonyms": ["Familial café-au-lait spots", "Multiple café-au-lait spots", "Multiple café-au-lait syndrome", "NF6"]} |
A number sign (#) is used with this entry because the metabolism of many drugs are altered by variation in the CES1 gene (114835) on chromosome 16q12.
Description
Carboxylesterase-1 (114835) is a widely expressed serine esterase that is involved in the hydrolysis of multiple amide-containing and ester-containing en... | DRUG METABOLISM, ALTERED, CES1-RELATED | None | 712 | omim | https://www.omim.org/entry/618057 | 2019-09-22T15:43:50 | {"omim": ["618057"]} |
Schimke (1974) described 3 brothers and a sister with adult-onset cerebellar ataxia and neurosensory deafness. Autosomal dominant cataract was segregating apparently independently in the kindred. All the affected persons required correction for pes cavus before development of ataxia.
Skel \- Pes cavus Inheritance... | CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS | c1859304 | 713 | omim | https://www.omim.org/entry/212850 | 2019-09-22T16:30:00 | {"mesh": ["C565869"], "omim": ["212850"]} |
Paraneoplastic syndrome
SpecialtyOncology
A paraneoplastic syndrome is a syndrome (a set of signs and symptoms) that is the consequence of cancer in the body, specifically due to the production of chemical signalling molecules (such as hormones or cytokines) by tumor cells or by an immune response against the ... | Paraneoplastic syndrome | c0030472 | 714 | wikipedia | https://en.wikipedia.org/wiki/Paraneoplastic_syndrome | 2021-01-18T18:49:03 | {"mesh": ["D010257"], "umls": ["C0030472"], "wikidata": ["Q936417"]} |
Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy (see this term). It is also commonly associated with the dev... | Tropical pancreatitis | c1842402 | 715 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=103918 | 2021-01-23T17:50:29 | {"mesh": ["C564276"], "omim": ["608189"], "umls": ["C1842402"], "icd-10": ["K86.1"], "synonyms": ["TCP", "Tropical calcific chronic pancreatitis"]} |
Congenital anomaly in which the eye openings are small
Blepharophimosis
18-year-old female with blepharophimosis as a result of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) type 1
SpecialtyMedical genetics
Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such... | Blepharophimosis | c0005744 | 716 | wikipedia | https://en.wikipedia.org/wiki/Blepharophimosis | 2021-01-18T18:42:47 | {"gard": ["5932"], "mesh": ["D016569"], "umls": ["C0005744"], "wikidata": ["Q883850"]} |
Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing m... | Diffuse large B-cell lymphoma | c0079744 | 717 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=544 | 2021-01-23T18:39:03 | {"gard": ["3178"], "mesh": ["D016403"], "umls": ["C0079744"], "icd-10": ["C83.3"], "synonyms": ["DLBCL"]} |
Human disease
Kyasanur forest disease
Other namesMonkey disease, monkey fever
SpecialtyInfectious disease
Kyasanur forest disease (KFD) is a tick-borne viral haemorrhagic fever endemic to South-western part of India.[1] The disease is caused by a virus belonging to the family Flaviviridae. KFDV is transmitt... | Kyasanur Forest disease | c0022810 | 718 | wikipedia | https://en.wikipedia.org/wiki/Kyasanur_Forest_disease | 2021-01-18T18:33:14 | {"gard": ["8257"], "mesh": ["D007733"], "umls": ["C0022810"], "icd-10": ["A98.2"], "orphanet": ["319254"], "wikidata": ["Q1432397"]} |
Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland. The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin... | Hypopituitarism | c0020635 | 719 | gard | https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism | 2021-01-18T17:59:52 | {"mesh": ["D007018"], "umls": ["C0020635"], "synonyms": ["Pituitary insufficiency"]} |
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Find sources: "Witzelsucht" – news · newspapers · books ·... | Witzelsucht | c1408582 | 720 | wikipedia | https://en.wikipedia.org/wiki/Witzelsucht | 2021-01-18T19:09:27 | {"wikidata": ["Q127770"]} |
A rare bone disease characterized by benign, usually unilateral, sclerosis of the inferomedial third of the clavicle. Patients present with localized swelling and persistent pain. Typical radiographic findings are expansion of the medial end of the clavicle with increased radio-density and signs of bone remodeling.
... | Medial condensing osteitis of the clavicle | None | 721 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=57196 | 2021-01-23T17:56:42 | {"gard": ["10910"], "icd-10": ["M85.3"], "synonyms": ["Osteitis condensans of the clavicle"]} |
Monophalangy of the great toes as an isolated hereditary defect was described by Frankel (1871).
Limbs \- Monophalangy of great toe Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Ace... | MONOPHALANGY OF GREAT TOE | c1834753 | 722 | omim | https://www.omim.org/entry/158100 | 2019-09-22T16:38:04 | {"mesh": ["C563570"], "omim": ["158100"]} |
Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular mi... | Respiratory bronchiolitis-interstitial lung disease syndrome | c1735355 | 723 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79127 | 2021-01-23T17:22:48 | {"umls": ["C1276236", "C1735355"], "icd-10": ["J68.4"], "synonyms": ["RB-ILD"]} |
A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.
*[v]: V... | Congenital hydrocephalus | c0020256 | 724 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2185 | 2021-01-23T17:04:37 | {"mesh": ["D006849"], "omim": ["236600", "615219"], "umls": ["C0020256"], "icd-10": ["Q03.0", "Q03.1", "Q03.8", "Q03.9"]} |
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Find sources: "Hematosalpinx" – news · newspapers · books... | Hematosalpinx | c0018962 | 725 | wikipedia | https://en.wikipedia.org/wiki/Hematosalpinx | 2021-01-18T19:04:50 | {"icd-9": ["620.8"], "icd-10": ["N83.6"], "wikidata": ["Q5711185"]} |
A number sign (#) is used with this entry because of evidence that osteogenesis imperfecta type XVII (OI17) is caused by homozygous mutation in the SPARC gene (182120) on chromosome 5q33.
Clinical Features
Mendoza-Londono et al. (2015) reported 2 unrelated girls with a clinical diagnosis of osteogenesis imperfe... | OSTEOGENESIS IMPERFECTA, TYPE XVII | c0268363 | 726 | omim | https://www.omim.org/entry/616507 | 2019-09-22T15:48:40 | {"doid": ["0110338"], "mesh": ["C536045"], "omim": ["616507"], "orphanet": ["216820", "666"]} |
Familial episodic pain syndrome with predominantly lower limb involvement is a subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposu... | Familial episodic pain syndrome with predominantly lower limb involvement | c3809899 | 727 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391392 | 2021-01-23T18:55:08 | {"omim": ["615552"], "icd-10": ["M79.6"]} |
In about half the cases of priapism, no cause is identified and the label of 'idiopathic' is assigned. Nagler et al. (1984) described 3 Iranian brothers with idiopathic priapism. The father, who was deceased, 'was alleged to have been hospitalized for priapism but this could not be verified.'
GU \- Priapism Inher... | PRIAPISM, FAMILIAL IDIOPATHIC | c1867771 | 728 | omim | https://www.omim.org/entry/176620 | 2019-09-22T16:35:42 | {"mesh": ["C531791"], "omim": ["176620"]} |
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
*[v]: View this template
*[t]: Discuss this template
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... | Craniodiaphyseal dysplasia | c0410539 | 729 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1513 | 2021-01-23T16:56:31 | {"gard": ["1567"], "mesh": ["C562940"], "omim": ["122860", "218300"], "umls": ["C0410539"], "icd-10": ["M85.2"]} |
Renal glycosuria
Other namesBenign glycosuria, familial renal glycosuria, nondiabetic glycosuria, primary renal glycosuria, diabetes renalis, renal diabetes, diabetes innocence, low renal threshold, renal glucosuria
Glucose
SpecialtyMedical genetics
Renal glycosuria is a rare condition in which the simple ... | Renal glycosuria | c3245525 | 730 | wikipedia | https://en.wikipedia.org/wiki/Renal_glycosuria | 2021-01-18T19:01:34 | {"gard": ["7548"], "mesh": ["D006030"], "umls": ["C3245525"], "orphanet": ["69076"], "wikidata": ["Q1207967"]} |
## Description
The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar ori... | ATRIOVENTRICULAR SEPTAL DEFECT | c1389018 | 731 | omim | https://www.omim.org/entry/606215 | 2019-09-22T16:10:35 | {"doid": ["0050651"], "mesh": ["C562831"], "omim": ["606215"], "icd-9": ["745.60", "745.6"], "icd-10": ["Q21.2"], "orphanet": ["98722"], "synonyms": ["Alternative titles", "ATRIOVENTRICULAR CANAL DEFECT", "AVC DEFECT", "ENDOCARDIAL CUSHION DEFECT"]} |
A number sign (#) is used with this entry because early infantile epileptic encephalopathy-16 (EIEE16) is caused by homozygous or compound heterozygous mutation in the TBC1D24 gene (613577) on chromosome 16p13.
Mutation in the TBC1D24 gene can also cause familial infantile myoclonic epilepsy (FIME; 605021), a less s... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 | c3809173 | 732 | omim | https://www.omim.org/entry/615338 | 2019-09-22T15:52:30 | {"doid": ["0080449"], "omim": ["615338"], "orphanet": ["293181", "352596"], "synonyms": ["Migrating partial epilepsy of infancy", "Progressive myoclonus epilepsy with dystonia", "MMPSI", "MPEI", "MPSI", "Migrating partial seizures of infancy", "Malignant migrating partial epilepsy of infancy", "MMPEI", "PMED"], "genere... |
Delayed milestone
Other namesDevelopmental delays
SpecialtyPediatrics
Delayed milestone, also called developmental delays, is used to describe the condition where a child does not reach one of these stages at the expected age. However, in most cases, a wide variety of ages can be considered normal, and not a... | Delayed milestone | c0424605 | 733 | wikipedia | https://en.wikipedia.org/wiki/Delayed_milestone | 2021-01-18T19:07:16 | {"umls": ["C0424605"], "icd-9": ["315"], "wikidata": ["Q5253500"]} |
## Clinical Features
Dos Santos and de Magalhaes (1980) described a family in which 10 members of 3 generations had multiple polyposis, with adenocarcinomatous propensities, limited to the stomach. No male-to-male transmission was observed. Seruca et al. (1991) restudied the family reported by dos Santos and de... | POLYPOSIS, GASTRIC | c0236048 | 734 | omim | https://www.omim.org/entry/175020 | 2019-09-22T16:36:00 | {"mesh": ["C562464"], "omim": ["175020"], "orphanet": ["157798"], "synonyms": ["Serrated polyposis"]} |
Anal fissure
Other namesFissure in ano, rectal fissure
SpecialtyGastroenterology
An anal fissure is a break or tear in the skin of the anal canal. Anal fissures may be noticed by bright red anal bleeding on toilet paper and undergarments, or sometimes in the toilet. If acute they are painful after defecation... | Anal fissure | c0016167 | 735 | wikipedia | https://en.wikipedia.org/wiki/Anal_fissure | 2021-01-18T19:04:32 | {"mesh": ["D005401"], "umls": ["C0016167"], "icd-9": ["565.0"], "icd-10": ["K60.2", "K60.0"], "wikidata": ["Q484797"]} |
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Find sources: "Kleptolagnia" – news · newspapers · books · scholar · JSTOR (March 2017) (Learn how and when to remove this templat... | Kleptolagnia | None | 736 | wikipedia | https://en.wikipedia.org/wiki/Kleptolagnia | 2021-01-18T18:28:25 | {"wikidata": ["Q6420625"]} |
A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.
*[v]: View this template
*... | Essential iris atrophy | c0271111 | 737 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98981 | 2021-01-23T18:33:51 | {"icd-10": ["H21.2"]} |
Brainstem stroke
SpecialtyNeurology
A brainstem stroke syndrome falls under the broader category of stroke syndromes, or specific symptoms caused by vascular injury to an area of brain (for example, the lacunar syndromes). As the brainstem contains numerous cranial nuclei and white matter tracts, a stroke in t... | Brainstem stroke syndrome | c0451671 | 738 | wikipedia | https://en.wikipedia.org/wiki/Brainstem_stroke_syndrome | 2021-01-18T18:57:31 | {"icd-9": ["434.91"], "icd-10": ["G46.3"], "wikidata": ["Q4955837"]} |
Cat et al. (1974) described a new syndrome in 8 persons in 7 Brazilian families living in a restricted area of southern Parana. Two were brothers and the parents of another were first cousins. Beginning at the age of 2 or 3 months, the skin of the entire body becomes progressively thicker. All joints gradually be... | PARANA HARD-SKIN SYNDROME | c1850079 | 739 | omim | https://www.omim.org/entry/260530 | 2019-09-22T16:23:37 | {"mesh": ["C564905"], "omim": ["260530"], "orphanet": ["2812"]} |
Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.
## Epidem... | Central congenital hypothyroidism | c3665349 | 740 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=226298 | 2021-01-23T18:26:44 | {"gard": ["12280"], "mesh": ["D007037"], "umls": ["C3665349"], "icd-10": ["E03.1"], "synonyms": ["Secondary hypothyroidism"]} |
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Find sources: "Degenerative disc disease" – news · newspapers · books · scholar · JSTOR (August 2009) (Learn how and when to remove th... | Degenerative disc disease | c0158266 | 741 | wikipedia | https://en.wikipedia.org/wiki/Degenerative_disc_disease | 2021-01-18T18:46:45 | {"mesh": ["D055959"], "umls": ["C0158266", "C0410606"], "icd-9": ["722.6"], "icd-10": ["M51.3"], "wikidata": ["Q11773731"]} |
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Find sources: "Acrodermatitis chronica atrophicans" – news · newspapers · books · scholar · JSTOR (August 2010) (Learn how and whe... | Acrodermatitis chronica atrophicans | c0029805 | 742 | wikipedia | https://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans | 2021-01-18T18:59:27 | {"umls": ["C0029805"], "icd-10": ["L90.4"], "wikidata": ["Q420804"]} |
A permanent deformity caused by physical trauma to the ear
Cauliflower ear
Cauliflower ear
SpecialtyOtorhinolaryngology
Cauliflower ear is an irreversible condition that occurs when the external portion of the ear is hit and develops a blood clot or other collection of fluid under the perichondrium. Thi... | Cauliflower ear | c0158516 | 743 | wikipedia | https://en.wikipedia.org/wiki/Cauliflower_ear | 2021-01-18T18:44:58 | {"icd-9": ["738.7"], "icd-10": ["M95.1"], "wikidata": ["Q886261"]} |
Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-... | Multisystemic smooth muscle dysfunction syndrome | c3151201 | 744 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=404463 | 2021-01-23T17:00:40 | {"gard": ["12811"], "omim": ["613834"], "icd-10": ["I73.8"]} |
Osteomalacia
Cholecalciferol (Vitamin D3), deficiency of which is the most common cause of Osteomalacia
SpecialtyRheumatology
Osteomalacia is a disease characterized by the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitami... | Osteomalacia | c0029442 | 745 | wikipedia | https://en.wikipedia.org/wiki/Osteomalacia | 2021-01-18T18:48:29 | {"gard": ["7285"], "mesh": ["D010018"], "umls": ["C0029442"], "icd-10": ["M83"], "wikidata": ["Q860395"]} |
Eosinophilic gastroenteritis
H&E Stain: Dense Eosinophilic infiltration of gastro-duodenal wall
SpecialtyGastroenterology
Eosinophilic gastroenteritis (EG or EGE) is a rare and heterogeneous condition characterized by patchy or diffuse eosinophilic infiltration of gastrointestinal (GI) tissue, first desc... | Eosinophilic gastroenteritis | c1262481 | 746 | wikipedia | https://en.wikipedia.org/wiki/Eosinophilic_gastroenteritis | 2021-01-18T18:44:04 | {"gard": ["9142"], "mesh": ["C535952"], "umls": ["C1262481"], "icd-10": ["K52.8"], "wikidata": ["Q27555722"]} |
Charcot-Marie-Tooth disease type 1 (CMT1) is a type of peripheral neuropathy, a condition affecting the transmission of information between the central nervous system (brain and spinal cord) and the rest of the body. Symptoms often begin between age 5 and 25, and the condition is usually slowly progressive. Signs... | Charcot-Marie-Tooth disease type 1 | c0751036 | 747 | gard | https://rarediseases.info.nih.gov/diseases/12433/charcot-marie-tooth-disease-type-1 | 2021-01-18T18:01:32 | {"mesh": ["D002607"], "omim": ["118220", "118200", "601098", "607678", "118300", "607734"], "orphanet": ["65753"], "synonyms": ["Autosomal dominant demyelinating Charcot-Marie-Tooth disease", "CMT1", "Hereditary motor and sensory neuropathy type 1", "Charcot-Marie-Tooth type 1", "Charcot-Marie-Tooth neuropathy type 1",... |
Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as pote... | Intravascular large B-cell lymphoma | c0334660 | 748 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98839 | 2021-01-23T18:18:11 | {"icd-10": ["C83.3"], "synonyms": ["Angioendotheliomatosis proliferans systemisata", "Angiotropic large cell lymphoma", "Intravascular lymphomatosis", "Malignant angioendotheliomatosis", "Tappeiner-Pfleger disease"]} |
## Clinical Features
Christian et al. (1971) described 3 sibships in an Amish kindred with members affected by a new syndrome, which they chose to designate the 'adducted thumbs syndrome.' All 6 parents shared a common ancestral couple. Three Amish children and an unrelated child had cleft palate, arthrogryposis, c... | ADDUCTED THUMBS SYNDROME | c0431886 | 749 | omim | https://www.omim.org/entry/201550 | 2019-09-22T16:31:28 | {"mesh": ["C562949"], "omim": ["201550"], "orphanet": ["2952"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that fetal akinesia deformation sequence-4 (FADS4) is caused by homozygous or compound heterozygous mutation in the NUP88 gene (602552) on chromosome 17p13.
Description
Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder char... | FETAL AKINESIA DEFORMATION SEQUENCE 4 | c1276035 | 750 | omim | https://www.omim.org/entry/618393 | 2019-09-22T15:42:10 | {"mesh": ["C536647"], "omim": ["618393"], "orphanet": ["994"]} |
## Clinical Features
Kaijser and Malmstrom-Groth (1957) described imperforate anus with rectovaginal fistula in a mother and her 2 daughters.
Van Gelder and Kloepfer (1961) observed 4 sibs with anorectal stenosis or imperforate anus. Although the parents were unaffected, the authors pointed out that failure of exp... | ANORECTAL ANOMALIES | c3495676 | 751 | omim | https://www.omim.org/entry/107100 | 2019-09-22T16:44:57 | {"mesh": ["D000071056"], "omim": ["107100"], "orphanet": ["557"]} |
A number sign (#) is used with this entry because autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA (mtDNA) deletions-1 (PEOA1) is caused by mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG; 174763) on chromosome 15q25. Autosomal recessive PEO (PEOB; 258450) is also... | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 | c1834846 | 752 | omim | https://www.omim.org/entry/157640 | 2019-09-22T16:38:11 | {"mesh": ["C563575"], "omim": ["157640"], "orphanet": ["254892"], "synonyms": ["adPEO", "Alternative titles", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1"], "genereviews": ["NBK26471", "NBK1203"]} |
A number sign (#) is used with this entry because knuckle pads are associated with certain genetic disorders such as epidermolytis palmoplantar keratoderma (144200) or Dupuytren contractures (126900), both of which are autosomal dominant.
Knuckle pads are sometimes associated with Dupuytren contractures and it is no... | KNUCKLE PADS | c0264000 | 753 | omim | https://www.omim.org/entry/149100 | 2019-09-22T16:39:20 | {"omim": ["149100"], "icd-10": ["M72.1"]} |
GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap... | GM1 gangliosidosis | c1968748 | 754 | medlineplus | https://medlineplus.gov/genetics/condition/gm1-gangliosidosis/ | 2021-01-27T08:25:35 | {"gard": ["10891"], "mesh": ["C566895"], "omim": ["230500", "230600", "230650"], "synonyms": []} |
Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.
## Epidemi... | Metaphyseal dysplasia, Braun-Tinschert type | c1853825 | 755 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85188 | 2021-01-23T17:36:16 | {"mesh": ["C565271"], "omim": ["605946"], "umls": ["C1853825"], "icd-10": ["Q78.5"]} |
A number sign (#) is used with this entry because of evidence that hypoplastic left heart syndrome (HLHS2) is caused by heterozygous mutation in the NKX2-5 gene (600584) on chromosome 5q35.1.
Description
Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ... | HYPOPLASTIC LEFT HEART SYNDROME 2 | c0152101 | 756 | omim | https://www.omim.org/entry/614435 | 2019-09-22T15:55:16 | {"doid": ["9955"], "mesh": ["D018636"], "omim": ["614435"], "orphanet": ["2248"]} |
Pituitary disease
Pituitary
SpecialtyEndocrinology
A pituitary disease is a disorder primarily affecting the pituitary gland.[1]
The main disorders involving the pituitary gland are:
Condition Direction Hormone
Acromegaly overproduction growth hormone
Cushing's disease overproduction adrenocorticotropi... | Pituitary disease | c0032002 | 757 | wikipedia | https://en.wikipedia.org/wiki/Pituitary_disease | 2021-01-18T18:36:37 | {"mesh": ["D010900"], "umls": ["C0032002"], "wikidata": ["Q7199538"]} |
Not to be confused with Hemiplegia or Paragelia.
Paraplegia
Pronunciation
* /ˌpærəˈpliːdʒə/
SpecialtyPhysical medicine and rehabilitation
Paraplegia is an impairment in motor or sensory function of the lower extremities. The word comes from Ionic Greek (παραπληγίη) "half-stricken". It is usually... | Paraplegia | c0030486 | 758 | wikipedia | https://en.wikipedia.org/wiki/Paraplegia | 2021-01-18T18:42:47 | {"gard": ["7327"], "mesh": ["D010264"], "umls": ["C0030486", "C0037772"], "wikidata": ["Q1049655"]} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome. Like Wolf-Hirschhorn syndrome (194190), cri-du-chat syndrome (123450), and Miller-Dieker syndrome (247200), it is a terminal deficiency or macrodeletion syndrome characterized by mental retardation and congenital ... | CHROMOSOME 18q DELETION SYNDROME | c0432443 | 759 | omim | https://www.omim.org/entry/601808 | 2019-09-22T16:14:23 | {"doid": ["0060407"], "mesh": ["C536580"], "omim": ["601808"], "orphanet": ["1600"], "synonyms": ["Alternative titles", "CHROMOSOME 18q- SYNDROME", "18q- SYNDROME"]} |
A number sign (#) is used with this entry because sitosterolemia is caused by homozygous or compound heterozygous mutation in the ABCG8 gene (605460) or in the ABCG5 gene (605459), both of which are located on chromosome 2p21.
Description
Sitosterolemia, also known as phytosterolemia, is an autosomal recessive meta... | SITOSTEROLEMIA | c0272281 | 760 | omim | https://www.omim.org/entry/210250 | 2019-09-22T16:30:31 | {"doid": ["0090019"], "omim": ["210250"], "orphanet": ["101022", "2882"], "synonyms": ["Alternative titles", "STSL", "PHYTOSTEROLEMIA"], "genereviews": ["NBK131810"]} |
Lichen striatus
Other namesBlaschko linear acquired inflammatory skin eruption[1]:776 and Linear lichenoid dermatosis[2]
SpecialtyDermatology
Lichen striatus is a rare skin condition that is seen primarily in children, most frequently appearing ages 5–15.[3]:226–27 It consists of a self-limiting eruption of ... | Lichen striatus | c0263374 | 761 | wikipedia | https://en.wikipedia.org/wiki/Lichen_striatus | 2021-01-18T18:43:36 | {"umls": ["C0263374"], "icd-9": ["697.8"], "icd-10": ["L44.2"], "wikidata": ["Q6543217"]} |
Acrofrontofacionasal dysostosis
Other namesRichieri-Costa-Colletto syndrome[1]
Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypo... | Acrofrontofacionasal dysostosis | c1860118 | 762 | wikipedia | https://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis | 2021-01-18T18:58:36 | {"gard": ["484"], "mesh": ["C538186"], "umls": ["C1860118"], "orphanet": ["1784"], "wikidata": ["Q4675773"]} |
Wilson-Turner syndrome
SpecialtyMedical genetics, pediatrics, psychiatry, rare diseases, metabolic diseases, endocrine diseases, mental diseases
Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a co... | Wilson–Turner syndrome | c1839736 | 763 | wikipedia | https://en.wikipedia.org/wiki/Wilson%E2%80%93Turner_syndrome | 2021-01-18T18:43:54 | {"gard": ["5579"], "mesh": ["C536708"], "umls": ["C1839736"], "orphanet": ["3459"], "wikidata": ["Q8023321"]} |
A number sign (#) is used with this entry because of evidence that Meckel syndrome-12 (MKS12) is caused by compound heterozygous mutation in the KIF14 gene (611279) on chromosome 1q31. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of Meckel synd... | MECKEL SYNDROME 12 | c4015701 | 764 | omim | https://www.omim.org/entry/616258 | 2019-09-22T15:49:28 | {"omim": ["616258"], "orphanet": ["439897"], "synonyms": []} |
## Summary
## Diagnosis
## Clinical Characteristics
## Differential Diagnosis
## Management
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: ... | Pancreatitis Overview | None | 765 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK190101/ | 2021-01-18T21:04:53 | {"synonyms": []} |
Not to be confused with arthritis.
Arteritis
Artery (normal)
SpecialtyRheumatology
Arteritis is the inflammation of the walls of arteries,[1] usually as a result of infection or autoimmune response. Arteritis, a complex disorder, is still not entirely understood.[2] Arteritis may be distinguished by its dif... | Arteritis | c0003860 | 766 | wikipedia | https://en.wikipedia.org/wiki/Arteritis | 2021-01-18T19:10:34 | {"mesh": ["D001167"], "umls": ["C0003860"], "icd-9": ["447.6"], "icd-10": ["I77.6"], "wikidata": ["Q1751810"]} |
Esophageal food bolus obstruction
Other namesSteakhouse syndrome[1]
Endoscopic image of patient with esophageal food bolus obstruction due to a grape in the setting of eosinophilic esophagitis
SpecialtyEmergency medicine, general surgery, gastroenterology
An esophageal food bolus obstruction is a medic... | Esophageal food bolus obstruction | c1268574 | 767 | wikipedia | https://en.wikipedia.org/wiki/Esophageal_food_bolus_obstruction | 2021-01-18T18:36:49 | {"umls": ["C1268574"], "icd-9": ["787.2"], "wikidata": ["Q5398623"]} |
A number sign (#) is used with this entry because Sjogren-Larsson syndrome (SLS) is caused by homozygous or compound heterozygous mutation in the ALDH3A2 gene (609523), which encodes fatty aldehyde dehydrogenase (FALDH), on chromosome 17p11.
Description
Sjogren-Larsson syndrome is an autosomal recessive, early ... | SJOGREN-LARSSON SYNDROME | c0037231 | 768 | omim | https://www.omim.org/entry/270200 | 2019-09-22T16:22:18 | {"doid": ["14501"], "mesh": ["D016111"], "omim": ["270200"], "orphanet": ["816"], "synonyms": ["Alternative titles", "ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA", "FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY", "FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY", "FALDH DEFICIENCY"]} |
Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.
*[v]: View this template
*[t]:... | Hot water reflex epilepsy | c4551550 | 769 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166412 | 2021-01-23T17:33:36 | {"omim": ["613339", "613340"], "icd-10": ["G40.5"]} |
Specific language impairment
SpecialtyNeurology
TreatmentSpeech-language pathology
Specific language impairment (SLI) (the term developmental language disorder is preferred by some)[1] is diagnosed when a child's language does not develop normally and the difficulties cannot be accounted for by generally slo... | Specific language impairment | c0973461 | 770 | wikipedia | https://en.wikipedia.org/wiki/Specific_language_impairment | 2021-01-18T18:32:32 | {"mesh": ["D001037"], "umls": ["C0973461"], "orphanet": ["211053"], "wikidata": ["Q775593"]} |
Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pa... | Diazoxide-resistant focal hyperinsulinism | None | 771 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79298 | 2021-01-23T18:38:56 | {"icd-10": ["E16.1"], "synonyms": ["Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form"]} |
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. (May 2018)
Collaural fistula
Other namesCervico-aural fistula
Collaural fistula or cervico-aural fistula is a type of fistula whose openings are at... | Collaural fistula | c0266627 | 772 | wikipedia | https://en.wikipedia.org/wiki/Collaural_fistula | 2021-01-18T19:07:18 | {"umls": ["C0266627"], "wikidata": ["Q55607918"]} |
Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.
People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called co... | Geleophysic dysplasia | c3278147 | 773 | medlineplus | https://medlineplus.gov/genetics/condition/geleophysic-dysplasia/ | 2021-01-27T08:25:44 | {"gard": ["2449"], "omim": ["231050", "614185"], "synonyms": []} |
Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the r... | Russell-Silver syndrome | c0175693 | 774 | medlineplus | https://medlineplus.gov/genetics/condition/russell-silver-syndrome/ | 2021-01-27T08:24:37 | {"gard": ["4870"], "mesh": ["D056730"], "omim": ["180860"], "synonyms": []} |
Sexually transmitted infection
"The clap" redirects here. For other uses, see Clap.
For the Lil Wayne song, see Gonorrhea (song).
Gonorrhea
Other namesGonorrhoea, gonococcal infection, gonococcal urethritis, the clap
Gonococcal lesion on the skin
Pronunciation
* /ˌɡɒn.əˈri.ə/
SpecialtyInfectious di... | Gonorrhea | c0018081 | 775 | wikipedia | https://en.wikipedia.org/wiki/Gonorrhea | 2021-01-18T18:28:51 | {"mesh": ["D006069"], "umls": ["C0018081"], "wikidata": ["Q101896"]} |
## Description
Focal dystonia, the most common form of dystonia, is often task-specific and referred to as FTSD. Specific learned motor tasks, such as writing or playing a musical instrument, can trigger muscle spasms and interfere with performance while other actions are unaffected. FTSD has a frequency of 1 i... | DYSTONIA, FOCAL, TASK-SPECIFIC | c1969807 | 776 | omim | https://www.omim.org/entry/611284 | 2019-09-22T16:03:24 | {"mesh": ["C566973"], "omim": ["611284"]} |
State in which the immune system's ability to fight infectious disease and cancer is compromised or absent
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: "Immunodefic... | Immunodeficiency | c0003257 | 777 | wikipedia | https://en.wikipedia.org/wiki/Immunodeficiency | 2021-01-18T18:42:18 | {"mesh": ["D007153"], "icd-9": ["281.2"], "icd-10": ["D84.9"], "wikidata": ["Q641307"]} |
Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper ce... | Cohen syndrome | c0265223 | 778 | gard | https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome | 2021-01-18T18:01:14 | {"mesh": ["C536438"], "omim": ["216550"], "umls": ["C0265223"], "orphanet": ["193"], "synonyms": ["COH1", "Pepper syndrome", "Hypotonia, obesity, and prominent incisors"]} |
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however... | Split hand/foot malformation X-linked | c1839258 | 779 | gard | https://rarediseases.info.nih.gov/diseases/4968/split-handfoot-malformation-x-linked | 2021-01-18T17:57:33 | {"mesh": ["C564056"], "omim": ["313350"], "synonyms": ["SHFM2", "Split hand foot deformity 2", "SHFD2", "Split hand foot anomaly - X-linked", "SHSF2"]} |
A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
## Epidemiology
It has been described in 19 individuals from nine families from northern Sweden.
## Clinical description
Onset of the exercise intolerance occurs dur... | Hereditary myopathy with lactic acidosis due to ISCU deficiency | c1850718 | 780 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=43115 | 2021-01-23T18:52:59 | {"mesh": ["C564972"], "omim": ["255125"], "umls": ["C1850718"], "icd-10": ["G71.3"], "synonyms": ["Aconitase deficiency", "ISCU myopathy", "Iron-sulfur cluster deficiency myopathy", "Myopathy with exercise intolerance, Swedish type"]} |
A number sign (#) is used with this entry because oculocutaneous albinism type IA (OCA1A) is caused by homozygous or compound heterozygous mutation in the tyrosinase gene (TYR; 606933) on chromosome 11q14.
Description
Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decrea... | ALBINISM, OCULOCUTANEOUS, TYPE IA | c0268494 | 781 | omim | https://www.omim.org/entry/203100 | 2019-09-22T16:31:21 | {"doid": ["0070094"], "mesh": ["C537728"], "omim": ["203100"], "icd-10": ["E70.320"], "orphanet": ["79431", "352731"], "synonyms": ["OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVE", "OCA1A", "ALBINISM I", "OCULOCUTANEOUS ALBINISM, TYPE I", "Tyrosinase-negative oculocutaneous albinism", "Alternative titles"], "genereviews... |
A number sign (#) is used with this entry because of evidence that the camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) can be caused by homozygous mutation in the proteoglycan-4 gene (PRG4; 604283) on chromosome 1q31.
Description
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an a... | CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME | c1859690 | 782 | omim | https://www.omim.org/entry/208250 | 2019-09-22T16:30:47 | {"doid": ["0090127"], "mesh": ["C537560"], "omim": ["208250"], "orphanet": ["2848"], "synonyms": ["Alternative titles", "ARTHROPATHY-CAMPTODACTYLY SYNDROME", "HYPERTROPHIC SYNOVITIS, CONGENITAL FAMILIAL", "JACOBS SYNDROME", "FIBROSING SEROSITIS, FAMILIAL", "PERICARDITIS-ARTHROPATHY-CAMPTODACTYLY SYNDROME", "PAC SYNDROM... |
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equino... | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | c1856053 | 783 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=500135 | 2021-01-23T18:08:09 | {"mesh": ["C565507"], "omim": ["236500"], "synonyms": ["MARCH syndrome"]} |
A number sign (#) is used with this entry because of evidence that Weill-Marchesani syndrome-4 (WMS4) is caused by homozygous mutation in the ADAMTS17 gene (607511) on chromosome 15q26.
Description
Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acut... | WEILL-MARCHESANI SYNDROME 4 | c2750787 | 784 | omim | https://www.omim.org/entry/613195 | 2019-09-22T15:59:23 | {"doid": ["0050475"], "mesh": ["C567710"], "omim": ["613195"], "orphanet": ["363992"], "synonyms": ["WEILL-MARCHESANI-LIKE SYNDROME", "Alternative titles", "15q26.3 microdeletion syndrome"]} |
Nocardiosis
SpecialtyInfectious disease
Nocardiosis is an infectious disease affecting either the lungs (pulmonary nocardiosis) or the whole body (systemic nocardiosis). It is due to infection by a bacterium of the genus Nocardia, most commonly Nocardia asteroides or Nocardia brasiliensis.
It is most common i... | Nocardiosis | c0028242 | 785 | wikipedia | https://en.wikipedia.org/wiki/Nocardiosis | 2021-01-18T19:02:25 | {"gard": ["7210"], "mesh": ["D009617"], "umls": ["C0028242"], "icd-9": ["039.9"], "orphanet": ["31204"], "wikidata": ["Q1856914"]} |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surroun... | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | c0751587 | 786 | medlineplus | https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy/ | 2021-01-27T08:25:24 | {"gard": ["1049"], "mesh": ["D046589"], "omim": ["125310"], "synonyms": []} |
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of... | Bardet-Biedl syndrome | c2936862 | 787 | medlineplus | https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome/ | 2021-01-27T08:25:49 | {"gard": ["6866"], "mesh": ["C537909"], "omim": ["209900"], "synonyms": []} |
## Summary
### Clinical characteristics.
GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. This disorder typically presents with gait disturbance caused by... | GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia | c1851920 | 788 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1508/ | 2021-01-18T21:23:40 | {"mesh": ["C538007"], "synonyms": ["Autosomal Dominant Dopa-Responsive Dystonia", "Autosomal Dominant Segawa Syndrome", "DYT5a", "Hereditary Progressive Dystonia with Marked Diurnal Fluctuation"]} |
Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors)... | Early-onset primary dystonia | c1851945 | 789 | medlineplus | https://medlineplus.gov/genetics/condition/early-onset-primary-dystonia/ | 2021-01-27T08:25:53 | {"gard": ["2027"], "omim": ["128100"], "synonyms": []} |
Central nervous system cyst
Other namesBrain cyst
A CT scan of an arachnoid cyst
SpecialtyMedical genetics
A central nervous system cyst is a type of cyst that presents and affects part of the central nervous system (CNS). They are usually benign and filled with either cerebrospinal fluid, blood, or tumor ... | Central nervous system cyst | c0349606 | 790 | wikipedia | https://en.wikipedia.org/wiki/Central_nervous_system_cyst | 2021-01-18T18:40:46 | {"mesh": ["D020863"], "umls": ["C0349606"], "icd-9": ["348.0", "742.4"], "icd-10": ["G93.0", "Q04.6"], "wikidata": ["Q5062119"]} |
Asbestos-related disease
Figure A shows the location of the lungs, airways, pleura, and diaphragm in the body. Figure B shows lungs with asbestos-related diseases, including pleural plaque, lung cancer, asbestosis, plaque on the diaphragm, and mesothelioma.
SpecialtyRespirology
Asbestos-related diseases ... | Asbestos-related diseases | None | 791 | wikipedia | https://en.wikipedia.org/wiki/Asbestos-related_diseases | 2021-01-18T18:43:15 | {"wikidata": ["Q4803677"]} |
A number sign (#) is used with this entry because X-linked mental retardation-90 (MRX90) is caused by mutation in the DLG3 (300189) gene on chromosome Xq13.
Clinical Features
Tarpey et al. (2004) reported 4 families in each of which at least 2 males had moderate to severe nonsyndromic X-linked mental retardatio... | MENTAL RETARDATION, X-LINKED 90 | c2931498 | 792 | omim | https://www.omim.org/entry/300850 | 2019-09-22T16:19:25 | {"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300850"], "orphanet": ["777"]} |
## Clinical Features
Khalifa et al. (2002) described 3 Canadian brothers of First Nation Canadian (Cree) origin with a previously undescribed pattern of malformations including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosi... | CREE MENTAL RETARDATION SYNDROME | c1847361 | 793 | omim | https://www.omim.org/entry/606851 | 2019-09-22T16:09:52 | {"mesh": ["C564654"], "omim": ["606851"]} |
## Summary
### Clinical characteristics.
EZH2-related overgrowth includes EZH2-related Weaver syndrome at one end of the spectrum and tall stature at the other. Although most individuals diagnosed with a heterozygous EZH2 pathogenic variant have been identified because of a clinical suspicion of Weaver syndrome, a ... | EZH2-Related Overgrowth | None | 794 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK148820/ | 2021-01-18T21:28:45 | {"synonyms": []} |
Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years... | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | c3809991 | 795 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293978 | 2021-01-23T19:03:46 | {"omim": ["615577"], "synonyms": ["DAVID syndrome"]} |
This article is about abnormal patterns of eating. For clinical eating disorders, see Eating disorders.
Disordered eating describes a variety of abnormal eating behaviors that, by themselves, do not warrant diagnosis of an eating disorder.
Disordered eating includes behaviors that are common features of eating diso... | Disordered eating | c0855228 | 796 | wikipedia | https://en.wikipedia.org/wiki/Disordered_eating | 2021-01-18T18:50:15 | {"umls": ["CL494123"], "wikidata": ["Q5282515"]} |
Urea cycle disorder
Ornithine transcarbamylase deficiency
Other namesOTC deficiency
The urea cycle. The enzyme OTC, labeled prominently in the center of the mitochondria, is deficient in patients with this disorder.
SpecialtyMedical genetics, metabolic syndrome, pediatrics
Differential diagnosisOrotic acidur... | Ornithine transcarbamylase deficiency | c1839530 | 797 | wikipedia | https://en.wikipedia.org/wiki/Ornithine_transcarbamylase_deficiency | 2021-01-18T19:08:40 | {"gard": ["8391"], "mesh": ["D020163"], "umls": ["C1839530"], "icd-9": ["270.6"], "orphanet": ["664"], "wikidata": ["Q3043161"]} |
Illustration of a dog's pancreas: Alveolus in the illustration refers to the acinar cells of the exocrine pancreas. The cells form circular clusters.[1] They are the cells which produce pancreatic enzymes needed for digestion of food.
Canine pancreatitis is inflammation of the pancreas that can occur in two very dif... | Canine pancreatitis | None | 798 | wikipedia | https://en.wikipedia.org/wiki/Canine_pancreatitis | 2021-01-18T18:31:48 | {"wikidata": ["Q5032415"]} |
A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this templ... | Aplasia cutis-myopia syndrome | c1832826 | 799 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1117 | 2021-01-23T18:41:46 | {"gard": ["756"], "mesh": ["C563394"], "omim": ["601075"], "umls": ["C1832826"], "icd-10": ["Q84.8"], "synonyms": ["Gershoni-Baruch-Leibo syndrome"]} |
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