text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitiv... | Progressive myoclonic epilepsy type 7 | c4015420 | 4,700 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435438 | 2021-01-23T18:40:55 | {"omim": ["616187"], "icd-10": ["G40.3"], "synonyms": ["EPM7", "MEAK", "Myoclonus epilepsy and ataxia due to potassium channel mutation", "PME type 7", "Progressive myoclonic epilepsy due to KV3.1 deficiency", "Progressive myoclonus epilepsy type 7"]} |
Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause ma... | Hydrops fetalis | c0020305 | 4,701 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1041 | 2021-01-23T18:54:25 | {"gard": ["2783"], "mesh": ["D015160"], "omim": ["236750"], "umls": ["C0020305"], "icd-10": ["P56.0", "P56.9", "P83.2"], "synonyms": ["Fetal anasarca", "Fetal hydrops", "Generalized fetal edema", "HF"]} |
A number sign (#) is used with this entry because Gilbert syndrome is caused by homozygous, compound heterozygous, or heterozygous mutation in the UDP-glucuronosyltransferase gene (UGT1A1; 191740) on chromosome 2q37.
Description
The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting i... | GILBERT SYNDROME | c0017551 | 4,702 | omim | https://www.omim.org/entry/143500 | 2019-09-22T16:40:05 | {"doid": ["2739"], "mesh": ["D005878"], "omim": ["143500"], "icd-10": ["E80.4"], "synonyms": ["Alternative titles", "HYPERBILIRUBINEMIA, GILBERT TYPE", "HYPERBILIRUBINEMIA, ARIAS TYPE", "HYPERBILIRUBINEMIA I"]} |
Spiradenoma
Micrograph of a spiradenoma (bottom-center of image). H&E stain.
SpecialtyOncology, dermatology
Spiradenoma, also spiroma[1][2] or eccrine spiradenoma,[3] is a cutaneous condition that is typically characterized, clinically, as a solitary, deep-seated dermal nodule of approximately one centimeter... | Spiradenoma | c0334347 | 4,703 | wikipedia | https://en.wikipedia.org/wiki/Spiradenoma | 2021-01-18T18:37:14 | {"gard": ["8649"], "umls": ["C0334347"], "wikidata": ["Q7577703"]} |
Small intestine neuroendocrine tumor
SpecialtyGastroenterology/oncology
A small intestine neuroendocrine tumor is a carcinoid in the distal small intestine or the proximal large intestine. It is a relatively rare cancer and is diagnosed in approximately 1/100000 people every year. In recent decades the inc... | Small intestine neuroendocrine tumor | c0349536 | 4,704 | wikipedia | https://en.wikipedia.org/wiki/Small_intestine_neuroendocrine_tumor | 2021-01-18T18:44:58 | {"umls": ["C0349536"], "wikidata": ["Q55633353"]} |
A number sign (#) is used with this entry because the disorder is caused by mutation in the PLOD3 gene, which encodes lysyl hydroxylase-3 (603066).
Clinical Features
Salo et al. (2008) described a female proband with a novel connective tissue disorder secondary to lysyl hydroxylase-3 (LH3) deficiency. The patient w... | BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS | c2676285 | 4,705 | omim | https://www.omim.org/entry/612394 | 2019-09-22T16:01:34 | {"mesh": ["C567320"], "omim": ["612394"], "orphanet": ["300284"], "synonyms": ["Alternative titles", "LYSYL HYDROXYLASE 3 DEFICIENCY", "LH3 DEFICIENCY"]} |
Clopidogrel resistance is a condition in which the drug clopidogrel is less effective than normal in people who are treated with it. Clopidogrel (also known as Plavix) is an antiplatelet drug, which means that it prevents blood cells called platelets from sticking together (aggregating) and forming blood clots. This ... | Clopidogrel resistance | c1836024 | 4,706 | medlineplus | https://medlineplus.gov/genetics/condition/clopidogrel-resistance/ | 2021-01-27T08:24:41 | {"gard": ["12906"], "omim": ["609535"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Snijders Blok-Campeau syndrome (SNIBCPS) is caused by heterozygous mutation in the CHD3 gene (602120) on chromosome 17p13.
Description
Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by glo... | SNIJDERS BLOK-CAMPEAU SYNDROME | None | 4,707 | omim | https://www.omim.org/entry/618205 | 2019-09-22T15:43:06 | {"omim": ["618205"], "synonyms": ["Alternative titles", "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SPEECH DELAY, AND DYSMORPHIC FACIES"]} |
Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. Perniosis is a form of vasculitis. Signs and symptoms oc... | Perniosis | c0008058 | 4,708 | gard | https://rarediseases.info.nih.gov/diseases/7373/perniosis | 2021-01-18T17:58:22 | {"mesh": ["D002647"], "umls": ["C0008058"], "synonyms": ["Chilblains", "Idiopathic perniosis", "Cold-induced painful or pruritic erythematous or violaceous acral papular or nodular lesions", "Pernio"]} |
Multiple system atrophy (MSA) causes the progressive loss of nerve cells in the brain (a neurodegenerative disease). MSA affects several areas of the brain, including the cerebellum, which is involved in controlling movement and some emotions, as well as certain types of learning and memory, and the autonomic nervous... | Multiple system atrophy | c0393571 | 4,709 | gard | https://rarediseases.info.nih.gov/diseases/7079/multiple-system-atrophy | 2021-01-18T17:58:54 | {"mesh": ["D019578"], "omim": ["146500"], "orphanet": ["102"], "synonyms": ["MSA", "Shy-Drager syndrome (formerly)"]} |
A number sign (#) is used with this entry because of evidence that glomerulopathy with fibronectin deposits-2 (GFND2) is caused by heterozygous mutation in the gene encoding fibronectin-1 (FN1; 135600) on chromosome 2q35.
Description
Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal ... | GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 | c3888104 | 4,710 | omim | https://www.omim.org/entry/601894 | 2019-09-22T16:14:10 | {"mesh": ["C536826"], "omim": ["601894"], "orphanet": ["84090"], "synonyms": ["Alternative titles", "GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS", "FIBRONECTIN GLOMERULOPATHY"]} |
SCARF syndrome
Other namesSkeletal abnormalities, Cutis laxa, craniostenosis, Ambiguous genitalia, Retardation, and Facial abnormalities [1]
This condition is inherited in an X-linked recessive manner
SCARF syndrome is a rare syndrome characterized by skeletal abnormalities, cutis laxa, craniostenosis, ambig... | SCARF syndrome | c1839321 | 4,711 | wikipedia | https://en.wikipedia.org/wiki/SCARF_syndrome | 2021-01-18T19:09:35 | {"gard": ["247"], "mesh": ["C536625"], "umls": ["C1839321"], "orphanet": ["3134"], "wikidata": ["Q7389072"]} |
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic featu... | X-linked intellectual disability-short stature-overweight syndrome | c0796242 | 4,712 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457240 | 2021-01-23T19:11:31 | {"omim": ["300957"]} |
Tourism with the purpose to engage in child prostitution
Sex and the law
Social issues
* Age of consent
* Antisexualism
* Bodily integrity
* Censorship
* Circumcision
* Deviant sexual intercourse
* Ethics
* Freedom of speech
* Homophobia
* Intersex rights
* LGBT rights
* Miscegenation ... | Child sex tourism | None | 4,713 | wikipedia | https://en.wikipedia.org/wiki/Child_sex_tourism | 2021-01-18T19:00:21 | {"wikidata": ["Q4208342"]} |
Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells.
## Epidemiology
NLPHL accounts for only 5-10% of HL cas... | Nodular lymphocyte predominant Hodgkin lymphoma | c1334968 | 4,714 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86893 | 2021-01-23T17:52:48 | {"mesh": ["D006689"], "umls": ["C1334968", "C2239290"], "icd-10": ["C81.0"], "synonyms": ["NLPHL"]} |
Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but o... | Bronchiolitis obliterans organizing pneumonia | c0242770 | 4,715 | gard | https://rarediseases.info.nih.gov/diseases/5961/bronchiolitis-obliterans-organizing-pneumonia | 2021-01-18T18:01:41 | {"mesh": ["D018549"], "umls": ["C0242770"], "orphanet": ["1303"], "synonyms": ["BOOP", "Constrictive bronchiolitis", "Organizing pneumonia"]} |
Mite infestation that involves rash caused by Leptotrombidium deliense
Trombiculosis
Other namesTrombiculiasis, or Trombiculidiasis
Chigger bites on the foot and ankle
SpecialtyInfectious disease
Trombiculosis, is a rash caused by trombiculid which is often referred to as a chigger bite.
## Contents
*... | Trombiculosis | c0041170 | 4,716 | wikipedia | https://en.wikipedia.org/wiki/Trombiculosis | 2021-01-18T18:54:38 | {"mesh": ["D014323"], "umls": ["C0041170"], "icd-9": ["133.8"], "icd-10": ["B88.0"], "wikidata": ["Q3540280"]} |
Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.
## Epidemiology
Only a small number of cases (around 10) of PDCM have been repo... | Pseudoxanthomatous diffuse cutaneous mastocytosis | None | 4,717 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280794 | 2021-01-23T17:45:59 | {"icd-10": ["Q82.2"], "synonyms": ["Infiltrative small vesicular DCM", "Infiltrative small vesicular diffuse cutaneous mastocytosis", "Pseudoxanthomatous DCM"]} |
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developme... | GM3 synthase deficiency | c1836824 | 4,718 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370933 | 2021-01-23T18:10:44 | {"mesh": ["C563799"], "omim": ["609056"], "icd-10": ["E77.8"], "synonyms": ["ST3GAL5-CDG"]} |
A number sign (#) is used with this entry because of evidence that Marsili syndrome (MARSIS) is caused by heterozygous mutation in the ZFHX2 gene (617828) on chromosome 14q11. One such family has been reported.
Clinical Features
Habib et al. (2018) reported an Italian family in which 6 individuals spanning 3 genera... | MARSILI SYNDROME | c1840219 | 4,719 | omim | https://www.omim.org/entry/147430 | 2019-09-22T16:39:35 | {"mesh": ["C564128"], "omim": ["147430"], "synonyms": ["Alternative titles", "INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT", "CONGENITAL ANALGESIA, AUTOSOMAL DOMINANT"]} |
A number sign (#) is used with this entry because Charcot-Marie-Tooth disease type 1C (CMT1C) is caused by heterozygous mutation in the LITAF gene (603795) on chromosome 16p13.
Description
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1... | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C | c0270913 | 4,720 | omim | https://www.omim.org/entry/601098 | 2019-09-22T16:15:25 | {"doid": ["0110151"], "mesh": ["C537984"], "omim": ["601098"], "orphanet": ["101083"], "synonyms": ["Alternative titles", "CMT, SLOW NERVE CONDUCTION TYPE C", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C", "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC", "HMSN IC"]} |
Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as... | Isolated congenital megalocornea | c0344530 | 4,721 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91489 | 2021-01-23T17:24:24 | {"gard": ["12648"], "mesh": ["C562829"], "omim": ["309300"], "icd-10": ["Q15.8"], "synonyms": ["Congenital anterior megalophthalmia"]} |
## Clinical Features
Devriendt et al. (1996) described a 2.5-year-old severely mentally retarded boy with peculiar appearance and generalized ichthyosis. He was born to consanguineous Turkish parents. The histologic finding in the skin biopsy of unusually large oval keratohyalin granules in the granular cells was u... | ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN | c1832858 | 4,722 | omim | https://www.omim.org/entry/601039 | 2019-09-22T16:15:29 | {"mesh": ["C563402"], "omim": ["601039"]} |
Progressive inflammatory neuropathy
SpecialtyNeurology
Progressive inflammatory neuropathy (PIN) is a disease that was identified in a report, released on January 31, 2008, by the Centers for Disease Control and Prevention.[1] The first known outbreak of this neuropathy occurred in southeastern Minnesota in th... | Progressive inflammatory neuropathy | None | 4,723 | wikipedia | https://en.wikipedia.org/wiki/Progressive_inflammatory_neuropathy | 2021-01-18T18:46:13 | {"wikidata": ["Q2855592"]} |
A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychi... | Morgagni-Stewart-Morel syndrome | c0020494 | 4,724 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77296 | 2021-01-23T17:18:51 | {"gard": ["8593"], "mesh": ["D006957"], "omim": ["144800"], "umls": ["C0020494"], "icd-10": ["M85.2"], "synonyms": ["Hyperostosis frontalis interna"]} |
Internal carotid agenesis occurs when one or both of the blood vessels that supply blood to the brain (internal carotid arteries) do not develop (agenesis). The missing carotid artery can be on either side of the body. People missing one or both of the internal carotid arteries may not have any symptoms, because the ... | Internal carotid agenesis | c4302907 | 4,725 | gard | https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-agenesis | 2021-01-18T17:59:45 | {"orphanet": ["981"], "synonyms": ["Internal carotid artery agenesis", "Agenesis of the internal carotid artery"]} |
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: "Cri du chat syndrome" – news · newspapers · books · scholar · JSTOR (July 2011) (Learn how and when to remove this temp... | Cri du chat syndrome | c0010314 | 4,726 | wikipedia | https://en.wikipedia.org/wiki/Cri_du_chat_syndrome | 2021-01-18T18:54:59 | {"gard": ["6213"], "mesh": ["D003410"], "umls": ["C0010314"], "orphanet": ["281"], "wikidata": ["Q752298"]} |
## Summary
### Clinical characteristics.
WAC-related intellectual disability (ID) is typically characterized by variable degrees of developmental delay and/or intellectual disability. Behavioral abnormalities including anxiety, attention-deficit/hyperactivity disorder, and/or autism spectrum disorder are observ... | WAC-Related Intellectual Disability | None | 4,727 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK465012/ | 2021-01-18T20:50:39 | {"synonyms": []} |
Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-... | Lipoic acid synthetase deficiency | c3280887 | 4,728 | gard | https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency | 2021-01-18T17:59:21 | {"omim": ["614462"], "orphanet": ["401859"], "synonyms": ["Pyruvate dehydrogenase lipoic acid synthetase deficiency "]} |
For other uses, see Calculus (disambiguation).
An 8-mm kidney stone
A calculus (plural calculi), often called a stone, is a concretion of material, usually mineral salts, that forms in an organ or duct of the body. Formation of calculi is known as lithiasis (/ˌlɪˈθaɪəsɪs/). Stones can cause a number of medical cond... | Calculus (medicine) | c0023869 | 4,729 | wikipedia | https://en.wikipedia.org/wiki/Calculus_(medicine) | 2021-01-18T18:50:47 | {"mesh": ["D002137", "D020347"], "umls": ["C0023869", "C1269628"], "wikidata": ["Q617079"]} |
Not to be confused with Fanconi anemia.
Fanconi syndrome
SpecialtyNephrology, endocrinology
Fanconi syndrome or Fanconi's syndrome (English: /fɑːnˈkoʊni/, /fæn-/) is a syndrome of inadequate reabsorption in the proximal renal tubules[1] of the kidney. The syndrome can be caused by various underlying congenita... | Fanconi syndrome | c0015624 | 4,730 | wikipedia | https://en.wikipedia.org/wiki/Fanconi_syndrome | 2021-01-18T18:51:47 | {"gard": ["9120"], "mesh": ["D005198"], "umls": ["C0015624", "C0341703"], "orphanet": ["3337"], "wikidata": ["Q1179460"]} |
Neri et al. (1995) raised the possibility of an autosomal dominant form of Wiskott-Aldrich syndrome on the basis of a 3-generation family in which several members presented clinical and laboratory findings of WAS (301000), including decreased CD43 expression on T lymphocytes. The gene for CD43, or sialophorin (SP... | WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM | c0043194 | 4,731 | omim | https://www.omim.org/entry/600903 | 2019-09-22T16:15:44 | {"mesh": ["D014923"], "omim": ["600903"], "orphanet": ["906"]} |
Muscular disease in which the muscle fibers do not function correctly
Myopathy
SpecialtyRheumatology
In medicine, myopathy is a disease of the muscle[1] in which the muscle fibers do not function properly. This results in muscular weakness. Myopathy means muscle disease (Greek : myo- muscle \+ patheia -pathy ... | Myopathy | c0026848 | 4,732 | wikipedia | https://en.wikipedia.org/wiki/Myopathy | 2021-01-18T19:09:13 | {"mesh": ["D009135"], "umls": ["C0026848"], "wikidata": ["Q692536"]} |
Neovascularization is the natural formation of new blood vessels (neo- \+ vascular \+ -ization), usually in the form of functional microvascular networks, capable of perfusion by red blood cells, that form to serve as collateral circulation in response to local poor perfusion or ischemia.
Growth factors that inh... | Neovascularization | c0027686 | 4,733 | wikipedia | https://en.wikipedia.org/wiki/Neovascularization | 2021-01-18T18:33:23 | {"mesh": ["D009389"], "wikidata": ["Q1281049"]} |
The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalitie... | Muscular dystrophy, congenital, merosin-positive | c1836133 | 4,734 | gard | https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive | 2021-01-18T17:58:52 | {"mesh": ["C563716"], "omim": ["609456"], "umls": ["C1836133"], "synonyms": []} |
Yesudian and Srinivas (1977) described a disorder which, like Netherton disease (256500), has ichthyosis and abnormality of the hair. Unlike Netherton disease, the ichthyosis is lamellar and the hair abnormality is 'split hairs.' A brother and sister with unrelated parents were born as collodion babies. The girl was ... | ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA | c1855786 | 4,735 | omim | https://www.omim.org/entry/242550 | 2019-09-22T16:26:23 | {"mesh": ["C565471"], "omim": ["242550"]} |
A congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.
## Epidemiology
Prevalence of this form of LC is difficult to ascertain because of the moderate nature of the condition, but it is thought to be rare.
## Clinical d... | Laryngotracheoesophageal cleft type 1 | None | 4,736 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93938 | 2021-01-23T18:19:27 | {"icd-10": ["Q32.1"], "synonyms": ["LTEC I", "LTEC1", "Laryngo-tracheo-esophageal cleft type 1"]} |
A number sign (#) is used with this entry because long QT syndrome-1 (LQT1) is caused by heterozygous mutation in the KQT-like voltage-gated potassium channel-1 gene (KCNQ1; 607542) on chromosome 11p15.
Digenic inheritance has also been reported; see MOLECULAR GENETICS.
Description
Congenital long QT syndrome is e... | LONG QT SYNDROME 1 | c1141890 | 4,737 | omim | https://www.omim.org/entry/192500 | 2019-09-22T16:32:02 | {"doid": ["0110644"], "omim": ["192500"], "orphanet": ["768", "101016"], "synonyms": ["Alternative titles", "WARD-ROMANO SYNDROME", "ROMANO-WARD SYNDROME", "VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL"], "genereviews": ["NBK1129"]} |
Narcolepsy is a chronic brain disorder that involves poor control of sleep-wake cycles. People with narcolepsy have episodes of extreme daytime sleepiness and sudden, irresistible bouts of sleep (called "sleep attacks") that can occur at any time, and may last from seconds or minutes. Other signs and symptoms may inc... | Narcolepsy | c0027404 | 4,738 | gard | https://rarediseases.info.nih.gov/diseases/7162/narcolepsy | 2021-01-18T17:58:47 | {"mesh": ["D009290"], "omim": ["161400"], "orphanet": ["2073"], "synonyms": ["Narcoleptic syndrome", "Gelineau syndrome", "Gelineau's syndrome", "Narcolepsy-cataplexy syndrome", "Paroxysmal sleep"]} |
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
## Epidemiology
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked (IPEX) syndrome prevalence is unknown. The disease has probably been underestimated, and milder clinical phen... | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | c0342288 | 4,739 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=37042 | 2021-01-23T18:03:45 | {"gard": ["1850"], "mesh": ["C580192"], "omim": ["304790"], "umls": ["C0342288"], "icd-10": ["E31.0"], "synonyms": ["Autoimmune enteropathy type 1", "IPEX"]} |
Periodic paralysis with transient compartment-like syndrome is a rare, genetic, neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute ede... | Periodic paralysis with transient compartment-like syndrome | None | 4,740 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397755 | 2021-01-23T17:15:36 | {"icd-10": ["G72.3"]} |
Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Babies and children are larger than normal usually until age 8, when growth slows down, resulting in an average height in adults. Symptoms may include one side or area of the body growing more than the other side (asymme... | Beckwith-Wiedemann syndrome | c0004903 | 4,741 | gard | https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome | 2021-01-18T18:01:51 | {"mesh": ["D001506"], "omim": ["130650"], "umls": ["C0004903"], "orphanet": ["116"], "synonyms": ["Wiedemann-Beckwith Syndrome (WBS)", "Exomphalos macroglossia gigantism syndrome", "EMG Syndrome"]} |
A number sign (#) is used with this entry because X-linked congenital nystagmus-6 (NYS6) is caused by mutation in the GPR143 gene (300808) on chromosome Xp22.
Ocular albinism-1 (OA1; 300500) is an allelic disorder.
Description
Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations... | NYSTAGMUS 6, CONGENITAL, X-LINKED | c3151752 | 4,742 | omim | https://www.omim.org/entry/300814 | 2019-09-22T16:19:33 | {"omim": ["300814"]} |
A rare systemic disease characterized by characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin my... | TAFRO syndrome | c4552543 | 4,743 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457077 | 2021-01-23T17:54:48 | {"icd-10": ["M35.8"], "synonyms": ["Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome"]} |
Dilated cardiomyopathy
Other namesCongestive cardiomyopathy,
idiopathic cardiomyopathy,
primary cardiomyopathy[1]
Mouse heart slice showing dilated cardiomyopathy
SpecialtyCardiology
SymptomsFeeling tired, leg swelling, shortness of breath, chest pain, fainting[2]
ComplicationsHeart failure, heart valve... | Dilated cardiomyopathy | c0007193 | 4,744 | wikipedia | https://en.wikipedia.org/wiki/Dilated_cardiomyopathy | 2021-01-18T18:40:18 | {"gard": ["221"], "mesh": ["D002311"], "umls": ["C0007193"], "icd-9": ["425.4"], "orphanet": ["217604"], "wikidata": ["Q283656"]} |
A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylala... | Hartnup disease | c0018609 | 4,745 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2116 | 2021-01-23T18:30:43 | {"gard": ["6569"], "mesh": ["D006250"], "omim": ["234500"], "umls": ["C0018609"], "icd-10": ["E72.0"], "synonyms": ["Aminoaciduria, Hartnup type", "Hartnup disorder"]} |
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Find sources: "Blanch" medical – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove this template message)
This ... | Blanch (medical) | c0277941 | 4,746 | wikipedia | https://en.wikipedia.org/wiki/Blanch_(medical) | 2021-01-18T19:05:16 | {"umls": ["C0277941"], "wikidata": ["Q4924780"]} |
Osteomyelitis of the jaws is osteomyelitis (which is infection and inflammation of the bone marrow, sometimes abbreviated to OM) which occurs in the bones of the jaws (i.e. maxilla or the mandible). Historically, osteomyelitis of the jaws was a common complication of odontogenic infection (infections of the teeth... | Osteomyelitis of the jaws | c0266968 | 4,747 | wikipedia | https://en.wikipedia.org/wiki/Osteomyelitis_of_the_jaws | 2021-01-18T18:59:27 | {"umls": ["C0266968"], "wikidata": ["Q17155549"]} |
Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptom... | Facioscapulohumeral muscular dystrophy | c0238288 | 4,748 | gard | https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy | 2021-01-18T18:00:37 | {"mesh": ["D020391"], "omim": ["158900"], "orphanet": ["269"], "synonyms": ["FSHD", "Muscular dystrophy, facioscapulohumeral", "Facioscapulohumeral muscular dystrophy 1A", "FSHMD1A", "Muscular dystrophy, facioscapulohumeral, type 1a", "FSHD1A", "Landouzy-Dejerine muscular dystrophy"]} |
## Mapping
Barrett et al. (2009) reported the findings of a genomewide association study of type 1 diabetes (IDDM; see 222100), combined in a metaanalysis with 2 previously published studies (Wellcome Trust Case Control Consortium, 2007; Cooper et al., 2008). The total sample set included 7,514 cases and 9,045 refe... | DIABETES MELLITUS, INSULIN-DEPENDENT, 24 | c2751697 | 4,749 | omim | https://www.omim.org/entry/613006 | 2019-09-22T16:00:04 | {"mesh": ["C567818"], "omim": ["613006"]} |
A number sign (#) is used with this entry because of evidence that intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) is caused by homozygous mutation in the OTUD6B gene (612021) on chromosome 8q21.
Description
IDDFSDA is an autosomal recessive severe multisyst... | INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES | c4479520 | 4,750 | omim | https://www.omim.org/entry/617452 | 2019-09-22T15:45:48 | {"omim": ["617452"], "orphanet": ["505237"], "synonyms": []} |
Condition of the spinal cord with symptoms of rapid onset of arm or leg weakness
Acute flaccid myelitis
Other namesAcute flaccid paralysis with anterior myelitis, polio-like syndrome[1]
Magnetic resonance imaging of the spinal cord in a case of AFM showing cord swelling in (d) which has resolved three weeks late... | Acute flaccid myelitis | c4290000 | 4,751 | wikipedia | https://en.wikipedia.org/wiki/Acute_flaccid_myelitis | 2021-01-18T18:30:51 | {"gard": ["13142"], "mesh": ["C000629404"], "umls": ["CL508662"], "wikidata": ["Q18350119"]} |
A number sign (#) is used with this entry because of evidence that this form of congenital diarrhea, designated DIAR6, is caused by heterozygous mutation in the GUCY2C gene (601330) on chromosome 12p12.
Description
Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased s... | DIARRHEA 6 | c3553270 | 4,752 | omim | https://www.omim.org/entry/614616 | 2019-09-22T15:54:48 | {"doid": ["0060780"], "omim": ["614616"], "orphanet": ["314373"], "synonyms": []} |
Tension myositis syndrome
Pseudomedical diagnosis
RisksNocebo
Tension myositis syndrome (TMS), also known as tension myoneural syndrome or mindbody syndrome is a name given by John E. Sarno to a condition of psychogenic musculoskeletal and nerve symptoms, most notably back pain.[1][2][3] Sarno described TMS ... | Tension myositis syndrome | None | 4,753 | wikipedia | https://en.wikipedia.org/wiki/Tension_myositis_syndrome | 2021-01-18T18:38:37 | {"wikidata": ["Q7700684"]} |
SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused ... | SAPHO syndrome | c0263859 | 4,754 | gard | https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome | 2021-01-18T17:57:50 | {"mesh": ["D020083"], "umls": ["C0263859"], "orphanet": ["793"], "synonyms": ["Acquired hyperostosis syndrome", "Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis", "Synovitis acne pustulosis hyperostosis osteitis"]} |
Kaposiform lymphangiomatosis (KLA) is a rare type of tumor and vascular malformation that results from the abnormal development of the lymphatic system. The lymphatic system is part of the immune system made up of vessels that help to protect the body from infection and foreign substances. KLA involves multiple parts... | Kaposiform lymphangiomatosis | None | 4,755 | gard | https://rarediseases.info.nih.gov/diseases/13451/kaposiform-lymphangiomatosis | 2021-01-18T17:59:38 | {"icd-10": ["D18.1"], "orphanet": ["464329"], "synonyms": []} |
A number sign (#) is used with this entry because bilateral frontoparietal polymicrogyria (BFPP) is caused by homozygous mutation in the ADGRG1 gene (604110) on chromosome 16q21. Mutation in a cis-regulatory region of ADGRG1 causes bilateral perisylvian polymicrogyria (BPPR; 615752).
See also unilateral polymicrogyr... | POLYMICROGYRIA, BILATERAL FRONTOPARIETAL | c1847352 | 4,756 | omim | https://www.omim.org/entry/606854 | 2019-09-22T16:09:57 | {"mesh": ["C564652"], "omim": ["606854"], "orphanet": ["268940", "101070"], "synonyms": ["Alternative titles", "CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT"], "genereviews": ["NBK1329"]} |
Diffuse myelinoclastic sclerosis
Other namesDms
SpecialtyNeurology
Diffuse myelinoclastic sclerosis, sometimes referred to as Schilder's disease, is a very infrequent neurodegenerative disease that presents clinically as pseudotumoural demyelinating lesions, making its diagnosis difficult. It usually begins ... | Diffuse myelinoclastic sclerosis | c0007795 | 4,757 | wikipedia | https://en.wikipedia.org/wiki/Diffuse_myelinoclastic_sclerosis | 2021-01-18T18:29:52 | {"mesh": ["D002549"], "umls": ["C0007795"], "icd-9": ["341.1"], "icd-10": ["G37.0"], "orphanet": ["59298"], "wikidata": ["Q2909420"]} |
The palmomental reflex is an ipsilateral or bilateral contraction of the mentalis muscle elicited by a scratch applied to the thenar eminence. In Japanese, Abe (1965) found it in one-third of 3-year-old children and one-sixth of the mothers, suggesting that about half the positive children become negative by adul... | PALMOMENTAL REFLEX | c0751470 | 4,758 | omim | https://www.omim.org/entry/167700 | 2019-09-22T16:36:47 | {"mesh": ["D012021"], "omim": ["167700"]} |
## Summary
### Clinical characteristics.
FLNA-related periventricular nodular heterotopia (PVNH), a neuronal migration disorder, is characterized by the presence of uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles. Affected individuals are predominantly heterozygous fe... | FLNA-Related Periventricular Nodular Heterotopia | c1848213 | 4,759 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1213/ | 2021-01-18T21:27:27 | {"mesh": ["D054091"], "synonyms": ["X-Linked Periventricular Heterotopia"]} |
A number sign (#) is used with this entry because of evidence that hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS) is caused by heterozygous mutation in the SOX18 gene (601618) on chromosome 20q13.
Biallelic mutations in the SOX18 gene result in hypotrichosis-lymphedema-telangiectasia syndrome ... | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME | c1841989 | 4,760 | omim | https://www.omim.org/entry/137940 | 2019-09-22T16:40:41 | {"mesh": ["C536825"], "omim": ["137940"], "orphanet": ["69735"], "synonyms": ["Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome", "Alternative titles", "TELANGIECTATIC MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS", "GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES"]} |
Tardive psychosis is a term for a hypothetical form of psychosis, proposed in 1978.[by whom?] It was defined as a condition caused by long term use of neuroleptics, noticeable when the medication had become decreasingly effective, requiring higher doses, or when not responding to higher doses.[citation needed]
Evalu... | Tardive psychosis | None | 4,761 | wikipedia | https://en.wikipedia.org/wiki/Tardive_psychosis | 2021-01-18T18:44:32 | {"wikidata": ["Q7685723"]} |
Fasciolopsiasis
Eggs of Fasciolopsis buski
SpecialtyInfectious disease
Fasciolopsiasis results from an infection by the trematode Fasciolopsis buski,[1] the largest intestinal fluke of humans (up to 7.5 cm in length).
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Prevention
* 5 T... | Fasciolopsiasis | c0015656 | 4,762 | wikipedia | https://en.wikipedia.org/wiki/Fasciolopsiasis | 2021-01-18T19:01:37 | {"mesh": ["D014201"], "umls": ["C0015656"], "wikidata": ["Q2140729"]} |
A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulth... | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | c1449563 | 4,763 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300751 | 2021-01-23T18:55:36 | {"mesh": ["D002311"], "omim": ["115200"], "icd-10": ["I42.0"]} |
Micrograph of an ovarian clear cell carcinoma. H&E stain.
Clear cell ovarian carcinoma is one of several subtypes of ovarian carcinoma. Clear cell is a subtype of epithelial ovarian cancer in contrast to non-epithelial cancers. According to research, most ovarian cancers start at the epithelial layer which is the li... | Clear-cell ovarian carcinoma | c1518230 | 4,764 | wikipedia | https://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma | 2021-01-18T18:29:25 | {"umls": ["C1518230"], "wikidata": ["Q5130609"]} |
Splenosis is the result of spleen tissue breaking off the main organ and implanting at another site inside the body. This is called heterotopic autotransplantation of the spleen. It most commonly occurs as a result of traumatic splenic rupture or abdominal surgery. Depending on the location of the spleen, the new... | Splenosis | c0206369 | 4,765 | wikipedia | https://en.wikipedia.org/wiki/Splenosis | 2021-01-18T18:54:01 | {"mesh": ["D017890"], "wikidata": ["Q2311755"]} |
Walker–Warburg syndrome
Other namesHARD syndrome,Warburg syndrome
Walker–Warburg syndrome has an autosomal recessive pattern of inheritance.
SpecialtyOphthalmology, neurology, medical genetics
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria... | Walker–Warburg syndrome | c0265221 | 4,766 | wikipedia | https://en.wikipedia.org/wiki/Walker%E2%80%93Warburg_syndrome | 2021-01-18T18:55:58 | {"gard": ["2599"], "mesh": ["D058494"], "umls": ["CN033898"], "orphanet": ["899", "588"], "wikidata": ["Q1629483"]} |
## Clinical Features
Dundar et al. (2008) reported a Turkish family in which a father and 2 sons had scoliosis, arachnodactyly, and progressive loss of vision resulting in blindness. The proband was a 16-year-old boy with scoliosis, arachnodactyly of both fingers and toes, and progressive visual loss and strabi... | SCOLIOSIS, ARACHNODACTYLY, AND BLINDNESS | c2676234 | 4,767 | omim | https://www.omim.org/entry/612445 | 2019-09-22T16:01:28 | {"mesh": ["C567309"], "omim": ["612445"], "orphanet": ["171844"]} |
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.
## Epidemiology
Four cases have been reported in the literature in two unrelated families.
## Clinical description
Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly dev... | Faciocardiorenal syndrome | c0795936 | 4,768 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1973 | 2021-01-23T19:06:52 | {"gard": ["2230"], "mesh": ["C536388"], "omim": ["227280"], "umls": ["C0795936"], "icd-10": ["Q87.8"], "synonyms": ["Eastman-Bixler syndrome"]} |
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be chall... | Diastematomyelia | c0011999 | 4,769 | wikipedia | https://en.wikipedia.org/wiki/Diastematomyelia | 2021-01-18T18:40:26 | {"gard": ["1851"], "mesh": ["D009436"], "umls": ["C0011999"], "icd-9": ["742.51"], "icd-10": ["Q06.2"], "orphanet": ["1671"], "wikidata": ["Q3026420"]} |
An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and ... | Incontinentia pigmenti | c0021171 | 4,770 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=464 | 2021-01-23T18:46:43 | {"gard": ["6778"], "mesh": ["D007184"], "omim": ["308300"], "umls": ["C0021171", "C0022283", "C2930820"], "icd-10": ["Q82.3"], "synonyms": ["Bloch-Siemens syndrome", "Bloch-Sulzberger syndrome"]} |
Barber Say syndrome
Other namesHypertrichosis-atrophic skin-ectropion-macrostomia syndrome
Barber-Say syndrome has an autosomal dominant pattern of inheritance
Usual onsetNeonatal
Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth (hypertrichosis), fragile (a... | Barber–Say syndrome | c1319466 | 4,771 | wikipedia | https://en.wikipedia.org/wiki/Barber%E2%80%93Say_syndrome | 2021-01-18T18:59:32 | {"gard": ["819"], "mesh": ["C537908"], "umls": ["C1319466"], "orphanet": ["1231"], "wikidata": ["Q18616565"]} |
A number sign (#) is used with this entry because Fanconi anemia of complementation group A (FANCA) is caused by homozygous or compound heterozygous mutation in the FANCA gene (607139) on chromosome 16q24.
Description
Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic inst... | FANCONI ANEMIA, COMPLEMENTATION GROUP A | c0015625 | 4,772 | omim | https://www.omim.org/entry/227650 | 2019-09-22T16:27:57 | {"doid": ["0111095"], "mesh": ["D005199"], "omim": ["227650"], "orphanet": ["84"], "synonyms": ["Alternative titles", "FANCONI ANEMIA"], "genereviews": ["NBK1401", "NBK5192"]} |
A number sign (#) is used with this entry because of evidence that the phenotype results from a contiguous gene deletion of chromosome 11p13 including the ELP4 (606985) and PAX6 (607108) genes.
The deleted region is distal to that involved in the WAGR syndrome (194072). Mutation in the PAX6 gene can cause congenital... | CHROMOSOME 11p13 DELETION SYNDROME, DISTAL | c4311047 | 4,773 | omim | https://www.omim.org/entry/616902 | 2019-09-22T15:47:30 | {"omim": ["616902"]} |
Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or i... | Pigmented villonodular synovitis | c0039106 | 4,774 | gard | https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis | 2021-01-18T17:58:19 | {"mesh": ["D013586"], "umls": ["C0039106"], "orphanet": ["66627"], "synonyms": ["Localized pigmented villonodular synovitis", "Diffuse pigmented villonodular synovitis", "Tenosynovial giant cell tumors", "Diffuse-type GCT", "Diffuse-type giant cell tumor", "Tenosynovial giant cell tumor", "TGCT", "TSGCT"]} |
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
## Epidemiology
Prevalence is unknown. To date, CHIME syndrome has been described in 8 cases.
## Clinical description
... | CHIME syndrome | c1848392 | 4,775 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3474 | 2021-01-23T18:08:18 | {"gard": ["310"], "mesh": ["C536729"], "omim": ["280000"], "umls": ["C1848392"], "icd-10": ["Q87.8"], "synonyms": ["Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome", "Congenital disorder of glycosylation due to PIGL deficiency", "Neuroectodermal dysplasia, CHIME... |
A number sign (#) is used with this entry because X-linked agammaglobulinemia/hypgammaglobulinemia (XLA) is caused by mutation in the gene encoding Bruton tyrosine kinase (BTK; 300300) on chromosome Xq22.
Description
X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lym... | AGAMMAGLOBULINEMIA, X-LINKED | c0221026 | 4,776 | omim | https://www.omim.org/entry/300755 | 2019-09-22T16:19:49 | {"doid": ["14179"], "mesh": ["C537409"], "omim": ["300755"], "orphanet": ["47", "229717"], "synonyms": ["Alternative titles", "BRUTON-TYPE AGAMMAGLOBULINEMIA", "AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1", "IMMUNODEFICIENCY 1"], "genereviews": ["NBK1453"]} |
A form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme p... | Isolated cloverleaf skull syndrome | c1860050 | 4,777 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2343 | 2021-01-23T17:27:32 | {"gard": ["3115"], "omim": ["148800", "600775"], "icd-10": ["Q75.0"]} |
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This article may be in need of reorganization to comply with Wikipedia's layout guidelines. Please help by editing the article to make improvements to the overall ... | Blindism | None | 4,778 | wikipedia | https://en.wikipedia.org/wiki/Blindism | 2021-01-18T18:45:05 | {"wikidata": ["Q884329"]} |
## Clinical Features
Pfeiffer (1966) and Reinhardt and Pfeiffer (1967) studied a kindred with 14 persons affected by hypoplasia of ulna and fibula in the pattern of a regular autosomal dominant. In addition to the shortening and characteristic dysplasia of the ulna and fibula, there were changes of the radius and t... | ULNA AND FIBULA, HYPOPLASIA OF | c1860616 | 4,779 | omim | https://www.omim.org/entry/191400 | 2019-09-22T16:32:13 | {"mesh": ["C537349"], "omim": ["191400"], "orphanet": ["2634"], "synonyms": ["Alternative titles", "MESOMELIC DWARFISM OF HYPOPLASTIC ULNA AND FIBULA TYPE", "REINHARDT-PFEIFFER MESOMELIC DYSPLASIA"]} |
MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).
The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level ... | MYH9-related disorder | c0340978 | 4,780 | medlineplus | https://medlineplus.gov/genetics/condition/myh9-related-disorder/ | 2021-01-27T08:24:33 | {"gard": ["180"], "omim": ["155100"], "synonyms": []} |
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and... | Robin sequence-oligodactyly syndrome | c1868309 | 4,781 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3104 | 2021-01-23T17:08:25 | {"gard": ["4729"], "mesh": ["C535688"], "omim": ["172880"], "umls": ["C1868309"], "icd-10": ["Q87.0"], "synonyms": ["Pierre Robin sequence-oligodactyly syndrome"]} |
Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and ... | Babesiosis | c0004576 | 4,782 | gard | https://rarediseases.info.nih.gov/diseases/5878/babesiosis | 2021-01-18T18:01:54 | {"mesh": ["D001404"], "orphanet": ["108"], "synonyms": ["Babesia parasite infection", "Human babesiosis"]} |
Junctional tachycardia
ECG showing junctional tachycardia. Narrow complex QRS. No P waves. Heart rate fast.
TreatmentAmiodarone to control the rhythm, electrical cardioversion is not used.
Junctional tachycardia is a form of supraventricular tachycardia characterized by involvement of the AV node.[1] It can ... | Junctional tachycardia | c0039235 | 4,783 | wikipedia | https://en.wikipedia.org/wiki/Junctional_tachycardia | 2021-01-18T18:49:12 | {"mesh": ["D013613"], "wikidata": ["Q6311816"]} |
A number sign (#) is used with this entry because of evidence that thrombocytopenia-5 (THC5) is caused by heterozygous mutation in the ETV6 gene (600618) on chromosome 12p13.
Description
Thrombocytopenia-5 is an autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency... | THROMBOCYTOPENIA 5 | c1832388 | 4,784 | omim | https://www.omim.org/entry/616216 | 2019-09-22T15:49:41 | {"mesh": ["C563324"], "omim": ["616216"], "orphanet": ["71290"], "synonyms": ["Alternative titles", "THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY", "THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5"]} |
Many types of skin tumors, both benign (noncancerous) and malignant (cancerous), exist. Approximately 20-40% of primary skin tumors are malignant in dogs and 50-65% are malignant in cats. Not all forms of skin cancer in cats and dogs are caused by sun exposure, but it can happen occasionally. On dogs, the nose and pa... | Skin cancer in cats and dogs | None | 4,785 | wikipedia | https://en.wikipedia.org/wiki/Skin_cancer_in_cats_and_dogs | 2021-01-18T18:28:02 | {"wikidata": ["Q7535378"]} |
A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some case... | Encephalopathy due to mitochondrial and peroxisomal fission defect | None | 4,786 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=527276 | 2021-01-23T18:51:16 | {"icd-10": ["E88.8"]} |
A number sign (#) is used with this entry because of evidence of an association between aspirin-induced asthma and polymorphisms in the TBX21 (604895), PTGER2 (176804), and LTC4S (246530) genes.
Clinical Features
Lockey et al. (1973) observed 2 families. In 1 family, consanguinity suggested recessive inheritance. T... | ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE | c1858067 | 4,787 | omim | https://www.omim.org/entry/208550 | 2019-09-22T16:30:39 | {"mesh": ["C565739"], "omim": ["208550"], "synonyms": ["Alternative titles", "ASA TRIAD"]} |
Hanson and Mincy (1975) described 2 brothers with cramps in the legs following strenuous exercise. Symptoms were maximal at adolescence. Both showed elevation of serum creatine phosphokinase. Muscle biopsy showed changes compatible with a myopathy. Five younger children, 2 girls and 3 boys, had elevated CPK levels. T... | CRAMPS, FAMILIAL ADOLESCENT | c1857533 | 4,788 | omim | https://www.omim.org/entry/218050 | 2019-09-22T16:29:17 | {"omim": ["218050"]} |
Kuhn et al. (1964) described 2 sisters with polymorphic and polytopic ventricular extrasystoles. One had syncopal attacks. A brother died suddenly at age 10 and the mother at age 40, under circumstances suggesting the presence of the same disorder.
Cardiac \- Arrhythmia \- Polymorphic and polytopic ventricular ex... | CARDIAC ARRHYTHMIA | c0003811 | 4,789 | omim | https://www.omim.org/entry/115000 | 2019-09-22T16:43:45 | {"mesh": ["D001145"], "omim": ["115000"], "icd-9": ["427.9", "427"], "icd-10": ["I49.9"], "synonyms": ["Alternative titles", "EXTRASYSTOLES"]} |
As indicated in 606933, in the mapping of the tyrosinase locus with a cDNA probe in somatic cell and in situ hybridization, Barton et al. (1988) identified a second site of tyrosinase-related sequences in the region 11p11.2-cen. The primary locus is on 11q14-q21. The functional significance of the second sequence is ... | TYROSINASE-LIKE | c3887993 | 4,790 | omim | https://www.omim.org/entry/191270 | 2019-09-22T16:32:14 | {"omim": ["191270"], "synonyms": ["Alternative titles", "TYROSINASE-RELATED SEGMENT"]} |
By histochemistry and electron microscopy, Fardeau et al. (1976) studied muscle biopsy specimens from 2 half brothers with a congenital mild muscle disorder and from their asymptomatic mother. The boys showed numerous fingerprint bodies located at the periphery of the muscle fibers. Fingerprint bodies were not found ... | FINGERPRINT BODY MYOPATHY | c1844560 | 4,791 | omim | https://www.omim.org/entry/305550 | 2019-09-22T16:18:18 | {"mesh": ["C564425"], "omim": ["305550"], "orphanet": ["97232"]} |
Species of insect
"Common greenbottle" redirects here. This phrase may also refer to another species in the Lucilia genus, Lucilia caesar.
Common green bottle fly
Scientific classification
Kingdom:
Animalia
Phylum:
Arthropoda
Class:
Insecta
Order:
Diptera
Family:
Calliphoridae
Genu... | Common green bottle fly | None | 4,792 | wikipedia | https://en.wikipedia.org/wiki/Common_green_bottle_fly | 2021-01-18T18:35:15 | {"wikidata": ["Q603128"]} |
Hidradenocarcinoma is a rare tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but can be been found on other parts of the body. This type of tumor most often develops in people between the ages of 3... | Hidradenocarcinoma | c0334344 | 4,793 | gard | https://rarediseases.info.nih.gov/diseases/10439/hidradenocarcinoma | 2021-01-18T18:00:00 | {"umls": ["C0334344"], "synonyms": ["Malignant nodular/clear cell hidradenoma", "Malignant acrospiroma", "Malignant clear cell acrospiroma", "Clear cell eccrine carcinoma", "Primary mucoepidermoid cutaneous carcinoma"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (May 2020) (Learn how and when to remove this template message)
Hyperreflexia
Other namesH... | Hyperreflexia | c0151889 | 4,794 | wikipedia | https://en.wikipedia.org/wiki/Hyperreflexia | 2021-01-18T18:36:13 | {"mesh": ["D012021"], "wikidata": ["Q1429154"]} |
Adverse reactions to biologic agents, such as imatinib, occur in more than 80% of patients, and can be characterized by edema and pruritus without dermatitis.[1]:
## See also[edit]
* Skin lesion
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005).... | Adverse reaction to biologic agents | c2959665 | 4,795 | wikipedia | https://en.wikipedia.org/wiki/Adverse_reaction_to_biologic_agents | 2021-01-18T19:01:36 | {"umls": ["C2959665"], "wikidata": ["Q4686719"]} |
A number sign (#) is used with this entry because neurodegeneration with brain iron accumulation-1 (NBIA1), also known as Hallervorden-Spatz disease, is caused by homozygous or compound heterozygosity mutation in the pantothenate kinase-2 gene (PANK2; 606157) on chromosome 20p13.
HARP syndrome (607236) is a rare... | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 | c0018523 | 4,796 | omim | https://www.omim.org/entry/234200 | 2019-09-22T16:27:22 | {"doid": ["3981"], "mesh": ["D006211"], "omim": ["234200"], "icd-10": ["G23.0"], "orphanet": ["216873", "157850", "216866"], "synonyms": ["PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION", "NBIA1, atypical form", "HALLERVORDEN-SPATZ DISEASE", "Alternative titles", "PKAN, atypical form", "Neurodegeneration with brain i... |
A number sign (#) is used with this entry because of evidence that familial primary localized cutaneous amyloidosis-1 is caused by heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR; 601743) on chromosome 5p13.
Description
Primary localized cutaneous amyloidosis is characterized clinically ... | AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 | c4551501 | 4,797 | omim | https://www.omim.org/entry/105250 | 2019-09-22T16:45:12 | {"doid": ["0050639"], "omim": ["105250"], "orphanet": ["353220"], "synonyms": ["PCA", "Alternative titles", "AMYLOIDOSIS IX", "AMYLOIDOSIS, PRIMARY CUTANEOUS, 1", "LICHEN AMYLOIDOSIS, FAMILIAL", "AMYLOIDOSIS, FAMILIAL CUTANEOUS LICHEN", "FPLCA"]} |
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. (March 2017)
Hypertension and brachydactyly syndrome
Other namesBrachydactyly-arterial hypertension syndrome
This condition is inherited in an autosom... | Hypertension and brachydactyly syndrome | c1862170 | 4,798 | wikipedia | https://en.wikipedia.org/wiki/Hypertension_and_brachydactyly_syndrome | 2021-01-18T18:42:11 | {"gard": ["967"], "mesh": ["C537095"], "umls": ["C1862170"], "orphanet": ["1276"], "wikidata": ["Q30314087"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Platyspondylic lethal skeletal dysplasia, Torrance type" – news · newspapers · books · scholar · JSTOR (October 2016) (Learn how and ... | Platyspondylic lethal skeletal dysplasia, Torrance type | c1835437 | 4,799 | wikipedia | https://en.wikipedia.org/wiki/Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type | 2021-01-18T18:36:41 | {"gard": ["4382"], "mesh": ["C563627"], "umls": ["C1835437"], "orphanet": ["85166"], "wikidata": ["Q7202845"]} |
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