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Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalop... | Ethylene glycol poisoning | c0413194 | 3,100 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=31826 | 2021-01-23T18:34:20 | {"umls": ["C0413194"], "icd-10": ["T52.8"]} |
A rare idiopathic interstitial pneumonia characterized by a diffuse, dense, polyclonal lymphoid cell infiltration of the pulmonary interstitium and air spaces, with high prevalence in patients with immune dysregulation. Presenting symptoms are non-specific and include dyspnea and cough. The clinical course is highly ... | Lymphoid interstitial pneumonia | c0264511 | 3,101 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79128 | 2021-01-23T17:27:01 | {"mesh": ["C562489"], "omim": ["247610"], "umls": ["C0264511"], "icd-10": ["J84.1"], "synonyms": ["Lymphocytic interstitial pneumonia"]} |
Weber–Christian disease
Other namesRelapsing febrile nodular nonsuppurative panniculitis
SpecialtyRheumatology
Weber–Christian disease, is a cutaneous condition characterized by recurrent subcutaneous nodules that heal with depression of the overlying skin.[1]
It is a type of panniculitis.[2] It is a rare d... | Weber–Christian disease | c0030328 | 3,102 | wikipedia | https://en.wikipedia.org/wiki/Weber%E2%80%93Christian_disease | 2021-01-18T18:32:03 | {"gard": ["7879"], "mesh": ["D010201"], "umls": ["C0030328"], "icd-9": ["729.30"], "orphanet": ["33577"], "wikidata": ["Q9190356"]} |
Multiple syringomas or sweat gland tumors occur particularly on the face and around the eyes. They are not to be confused with milia, which are intraepithelial cysts. Familial occurrence is, it seems, a commonplace observation of dermatologists and autosomal dominant inheritance is likely (Reed, 1967). Reed (1970... | SYRINGOMAS, MULTIPLE | c1861302 | 3,103 | omim | https://www.omim.org/entry/186600 | 2019-09-22T16:32:53 | {"mesh": ["C566085"], "omim": ["186600"]} |
A number sign (#) is used with this entry because this dysmorphic condition is caused by tetrasomy of chromosome 18p.
Clinical Features
Sebold et al. (2010) summarized the phenotype of tetrasomy 18p with a list of findings reported in more than 25% of theretofore published cases: neonatal feeding problems, growth r... | TETRASOMY 18p | c0795868 | 3,104 | omim | https://www.omim.org/entry/614290 | 2019-09-22T15:55:47 | {"mesh": ["C538306"], "omim": ["614290"], "orphanet": ["3307"], "synonyms": ["Alternative titles", "ISOCHROMOSOME 18p SYNDROME"]} |
Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
## Epidemiology
It has been de... | Ring chromosome 14 syndrome | c2930916 | 3,105 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1440 | 2021-01-23T17:10:30 | {"gard": ["6072"], "mesh": ["C535487"], "omim": ["616606"], "umls": ["C2930916"], "icd-10": ["Q93.2"], "synonyms": ["Ring 14", "Ring chromosome 14"]} |
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Normal Weight Obesity
Other namesSkinny fat
A m... | Normal weight obesity | None | 3,106 | wikipedia | https://en.wikipedia.org/wiki/Normal_weight_obesity | 2021-01-18T19:06:45 | {"wikidata": ["Q22907351"]} |
See also: Neonatal lupus erythematosus
Congenital heart block
The conduction system of the heart (shown in yellow)
SpecialtyMedical genetics
Symptomsslow heart rate[1]
Usual onsetin utero.[1]
Diagnostic methodfetal echocardiogram and Doppler and ELISA for the mother[1]
Treatmentfluorinated steroids, beta... | Congenital heart block | c3884338 | 3,107 | wikipedia | https://en.wikipedia.org/wiki/Congenital_heart_block | 2021-01-18T18:29:42 | {"gard": ["6164"], "mesh": ["C535758"], "umls": ["C3884338"], "orphanet": ["60041"], "wikidata": ["Q18558252"]} |
Methylmalonic acidemia refers to a group of inherited conditions in which the body can’t breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and bouts of serious illness called decompensation events or metabolic crises. Symptoms of a decompensation event include poor feeding, vo... | Methylmalonic acidemia | c0268583 | 3,108 | gard | https://rarediseases.info.nih.gov/diseases/7033/methylmalonic-acidemia | 2021-01-18T17:59:06 | {"mesh": ["C537358"], "synonyms": ["MMA", "Acidemia, methylmalonic"]} |
Nuchal fibroma
SpecialtyOncology
Nuchal-type fibroma is a rare benign proliferation involving the dermis and subcutaneous tissues, that is a collection of dense, hypocellular bundles of collagen with entrapped adipocytes and increased numbers of small nerves. It is no longer called a nuchal fibroma, but instea... | Nuchal fibroma | c1532393 | 3,109 | wikipedia | https://en.wikipedia.org/wiki/Nuchal_fibroma | 2021-01-18T19:07:49 | {"umls": ["C1532393"], "wikidata": ["Q7067892"]} |
A rare, acquired, life-threatening, infectious disease due to the tick-borne bacteria Rickettsia rickettsii characterized by an acute onset of fever, malaise, and severe headache, variably accompanied by myalgia, anorexia, nausea, vomiting, abdominal pain, and photophobia, associating (2-5 days after fever onset) a t... | Rocky Mountain spotted fever | c0035793 | 3,110 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83311 | 2021-01-23T17:07:52 | {"gard": ["7585"], "mesh": ["D012373"], "umls": ["C0035793"], "icd-10": ["A77.0"]} |
A number sign (#) is used with this entry because glycogen storage disease type IXb (GSD9B) is caused by compound heterozygous mutation in the PHKB gene (172490), which encodes the beta subunit of phosphorylase kinase, on chromosome 16q12.
For a discussion of genetic heterogeneity of GSD IX (GSD9), see X-linked GSD ... | GLYCOGEN STORAGE DISEASE IXb | c0543514 | 3,111 | omim | https://www.omim.org/entry/261750 | 2019-09-22T16:23:30 | {"doid": ["0111041"], "mesh": ["C563008"], "omim": ["261750"], "orphanet": ["79240"], "synonyms": ["Alternative titles", "GSD IXb", "GLYCOGENOSIS OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE", "PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE"], "genereviews": ["NBK55061"]} |
Bing–Neel syndrome
SpecialtyNeurology
Bing–Neel syndrome (BNS) is an extremely rare neurologic complication of Waldenström macroglobulinemia (WM), which is a chronic lymphoproliferative disorder.[1] There's no clear definition of BNS but what is known so far is that unlike WM, It involves the central nervous s... | Bing–Neel syndrome | None | 3,112 | wikipedia | https://en.wikipedia.org/wiki/Bing%E2%80%93Neel_syndrome | 2021-01-18T19:03:16 | {"wikidata": ["Q863725"]} |
## Clinical Features
Holmes et al. (1995) described 3 sibs, 1 female and 2 male, with absence or hypoplasia of the tibia in association with other malformations. The parents were first cousins once removed. The girl had unilateral cleft lip, absence of the diaphragm, and postaxial polydactyly of the feet. The secon... | TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES | c2931368 | 3,113 | omim | https://www.omim.org/entry/601027 | 2019-09-22T16:15:29 | {"mesh": ["C536918"], "omim": ["601027"], "orphanet": ["3328"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant hypocalcemia-1 (HYPOC1) is caused by heterozygous mutation in the CASR gene (601199) on chromosome 3q21.
Description
Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH)... | HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 | c1832648 | 3,114 | omim | https://www.omim.org/entry/601198 | 2019-09-22T16:15:14 | {"doid": ["0090107"], "mesh": ["C537156"], "omim": ["601198"], "orphanet": ["2238", "263417", "112", "428"], "synonyms": ["Alternative titles", "HYPERCALCIURIC HYPOCALCEMIA", "HYPOCALCEMIA, FAMILIAL"]} |
## Clinical Features
Circulating mature T lymphocytes constitute a heterogeneous cell population with 2 major phenotypes, one expressing the CD4 marker (186940) on its surface (generally associated with helper/inducer function), and the other expressing the CD8 antigen (186910) (usually associated with cytotoxic/su... | CD4/CD8 T-CELL RATIO | c1832816 | 3,115 | omim | https://www.omim.org/entry/601083 | 2019-09-22T16:15:26 | {"omim": ["601083"]} |
Epithelioid Hemangioendothelioma
Micrograph of an epithelioid hemangioendothelioma of the liver.
SpecialtyOncology
Epithelioid hemangioendothelioma (eHAE) is a rare tumor, first characterized by Sharon Weiss and Franz Enzinger[1] that both clinically and histologically is intermediate between angiosarcoma an... | Epithelioid hemangioendothelioma | c0206732 | 3,116 | wikipedia | https://en.wikipedia.org/wiki/Epithelioid_hemangioendothelioma | 2021-01-18T18:33:58 | {"mesh": ["D018323"], "umls": ["C0206732"], "orphanet": ["157791"], "wikidata": ["Q1887340"]} |
A number sign (#) is used with this entry because of evidence that spherocytosis type 1 is caused by heterozygous, compound heterozygous, or homozygous mutation in the gene encoding ankyrin (ANK1; 612641) on chromosome 8p11.
Description
Hereditary spherocytosis refers to a group of heterogeneous disorders that ... | SPHEROCYTOSIS, TYPE 1 | c0221409 | 3,117 | omim | https://www.omim.org/entry/182900 | 2019-09-22T16:34:37 | {"doid": ["0110916"], "mesh": ["C536356"], "omim": ["182900"], "orphanet": ["822"], "synonyms": ["Alternative titles", "SPHEROCYTOSIS, HEREDITARY, 1", "SPH"]} |
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Find sources: "Idiosyncratic drug reaction" – news · newspapers · books · scholar · JSTOR (April 2016) (Learn how and when to remove t... | Idiosyncratic drug reaction | c0919578 | 3,118 | wikipedia | https://en.wikipedia.org/wiki/Idiosyncratic_drug_reaction | 2021-01-18T18:55:06 | {"icd-9": ["995.3"], "icd-10": ["T78.4"], "wikidata": ["Q3739665"]} |
Acute panmyelosis with myelofibrosis
SpecialtyHematology, oncology
Acute panmyelosis with myelofibrosis (APMF) it is a poorly defined disorder that arises as either a clonal disorder, or following toxic exposure to the bone marrow.[1]
## Contents
* 1 Signs and symptoms
* 2 Prognosis and treatment
*... | Acute panmyelosis with myelofibrosis | c0334674 | 3,119 | wikipedia | https://en.wikipedia.org/wiki/Acute_panmyelosis_with_myelofibrosis | 2021-01-18T18:59:13 | {"gard": ["11907"], "umls": ["C0334674"], "icd-9": ["238.79"], "icd-10": ["C94.4"], "orphanet": ["86843"], "wikidata": ["Q4677944"]} |
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
## Epidemiology
It has been described exclusively in families originating from North-Western Africa (northwest Algeria and the east of Morocco).
## Clinical description
Onset occ... | Charcot-Marie-Tooth disease type 2B1 | c1854154 | 3,120 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98856 | 2021-01-23T18:12:07 | {"gard": ["8548"], "mesh": ["C537990"], "omim": ["605588"], "umls": ["C1854154"], "icd-10": ["G60.0"], "synonyms": ["AR-CMT2B1", "Autosomal recessive Charcot-Marie-Tooth disease type 2B1", "Autosomal recessive axonal CMT4C1"]} |
Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneo... | Systemic sclerosis | c0036421 | 3,121 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90291 | 2021-01-23T16:53:16 | {"gard": ["9748"], "mesh": ["D012595"], "omim": ["181750"], "umls": ["C0036421"], "icd-10": ["M34.0", "M34.1", "M34.2", "M34.8", "M34.9"], "synonyms": ["Systemic scleroderma"]} |
Wartenberg wheel pain stimulation of the areola and nipple
Algolagnia (/ælɡəˈlæɡniə/; from Greek: ἄλγος, álgos, "pain", and Greek: λαγνεία, lagneía, "lust") is a sexual tendency which is defined by deriving sexual pleasure and stimulation from physical pain,[1] often involving an erogenous zone. Studies conducted in... | Algolagnia | None | 3,122 | wikipedia | https://en.wikipedia.org/wiki/Algolagnia | 2021-01-18T19:04:06 | {"wikidata": ["Q1570503"]} |
Among the offspring of first-cousin Iraqi Jewish parents, Ben-Ami et al. (1973) observed a mentally retarded boy in whom paper chromatographic examination of the urine showed an abnormal compound having staining reactions with ninhydrin cyanide-nitroprusside and iodoplatinate reagents. The peptide contained cyste... | CYSTEINE PEPTIDURIA | c1857438 | 3,123 | omim | https://www.omim.org/entry/219550 | 2019-09-22T16:29:13 | {"mesh": ["C565659"], "omim": ["219550"]} |
A blood smear showing hypochromic (and microcytic) anemia. Note the increased central pallor of the red blood cells.
Hypochromic anemia is a generic term for any type of anemia in which the red blood cells are paler than normal. (Hypo\- refers to less, and chromic means colour.) A normal red blood cell has a biconca... | Hypochromic anemia | c0002884 | 3,124 | wikipedia | https://en.wikipedia.org/wiki/Hypochromic_anemia | 2021-01-18T19:10:55 | {"mesh": ["D000747"], "umls": ["C0002884"], "wikidata": ["Q2306782"]} |
A number sign (#) is used with this entry because Rett syndrome (RTT) is caused by mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2; 300005) on chromosome Xq28.
See also the congenital variant of Rett syndrome (613454), which is caused by mutation in the FOXG1 gene (164874) on chromosome 14q13.
... | RETT SYNDROME | c2748910 | 3,125 | omim | https://www.omim.org/entry/312750 | 2019-09-22T16:17:18 | {"doid": ["1206"], "mesh": ["C567576"], "omim": ["312750"], "icd-10": ["F84.2"], "orphanet": ["3095", "778"], "synonyms": ["Alternative titles", "RTS", "AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE"]} |
A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
## Epidemiology
The prevalence is unknown; more than 100 cases of NAFD have been published.
## Clinical description
NAFD is characterized by... | Nager syndrome | c0265245 | 3,126 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=245 | 2021-01-23T18:30:07 | {"gard": ["498"], "mesh": ["C538184"], "omim": ["154400"], "umls": ["C0265245"], "icd-10": ["Q75.4"], "synonyms": ["Mandibulofacial dysostosis with preaxial limb anomalies", "NAFD", "Nager acrofacial dysostosis", "Preaxial acrodysostosis"]} |
Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/tel... | Distal trisomy 3p | c4706938 | 3,127 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96071 | 2021-01-23T18:15:13 | {"icd-10": ["Q92.3"], "synonyms": ["Distal duplication 3p", "Telomeric duplication 3p", "Trisomy 3pter"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-69 (RP69) is caused by homozygous or compound heterozygous mutation in the KIZ gene (615757) on chromosome 20p11.
Description
Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blind... | RETINITIS PIGMENTOSA 69 | c0035334 | 3,128 | omim | https://www.omim.org/entry/615780 | 2019-09-22T15:50:59 | {"doid": ["0110410"], "mesh": ["D012174"], "omim": ["615780"], "orphanet": ["791"]} |
Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomer... | Hypocomplementemic urticarial vasculitis | c0343206 | 3,129 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36412 | 2021-01-23T18:28:42 | {"gard": ["6725"], "icd-10": ["M31.8"], "synonyms": ["Anti-C1q vasculitis", "Mac Duffie hypocomplementemic urticarial vasculitis", "Mac Duffie syndrome", "McDuffie hypocomplementemic urticarial vasculitis", "McDuffie syndrome"]} |
A number sign (#) is used with this entry because of evidence that Pyle disease (PYL) is caused by homozygous mutation in the SFRP4 gene (606570) on chromosome 7p14.
Description
Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fracture... | PYLE DISEASE | c0265294 | 3,130 | omim | https://www.omim.org/entry/265900 | 2019-09-22T16:22:56 | {"mesh": ["C536252"], "omim": ["265900"], "icd-10": ["Q78.5"], "orphanet": ["3005"], "synonyms": ["Alternative titles", "METAPHYSEAL DYSPLASIA"]} |
A number sign (#) is used with this entry because generalized hypotrichosis-1 (HYPT1) is caused by heterozygous mutation in the APCDD1 gene (607479) on chromosome 18p11.
Description
Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anoma... | HYPOTRICHOSIS 1 | c1854310 | 3,131 | omim | https://www.omim.org/entry/605389 | 2019-09-22T16:11:21 | {"doid": ["0110698"], "mesh": ["C537160"], "omim": ["605389"], "orphanet": ["55654"], "synonyms": ["Alternative titles", "HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY", "HTS"]} |
Joske and Laurence (1970) described a family in which the father and 4 of 10 children had chronic liver disease and raised immunoglobulin levels. A possible nongenetic basis is suggested by the example of hepatitis-associated antigen (HAA), or Australian antigen, in a mother and 3 children ascertained through one of ... | CIRRHOSIS, FAMILIAL | c1861556 | 3,132 | omim | https://www.omim.org/entry/118900 | 2019-09-22T16:43:18 | {"mesh": ["C566123"], "omim": ["118900"]} |
A number sign (#) is used with this entry because the syndrome is caused by a recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1. This chromosome, known as Rec(8), is derived from recombination of a parental pericentric inversion of chromosome 8, known as inv(8).
Clinica... | RECOMBINANT CHROMOSOME 8 SYNDROME | c0795822 | 3,133 | omim | https://www.omim.org/entry/179613 | 2019-09-22T16:35:20 | {"mesh": ["C535296"], "omim": ["179613"], "orphanet": ["96167"], "synonyms": ["Alternative titles", "REC8 SYNDROME", "CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION", "SAN LUIS VALLEY SYNDROME"]} |
## Summary
### Clinical characteristics.
Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare;... | Hypochondroplasia | c0410529 | 3,134 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1477/ | 2021-01-18T21:18:24 | {"mesh": ["C562937"], "synonyms": []} |
Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often oc... | Chromosome 2q deletion | c0795804 | 3,135 | gard | https://rarediseases.info.nih.gov/diseases/3744/chromosome-2q-deletion | 2021-01-18T18:01:22 | {"mesh": ["C538315"], "umls": ["C0795804"], "synonyms": ["Deletion 2q", "Monosomy 2q", "2q deletion", "2q monosomy", "Partial monosomy 2q"]} |
Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
## Epidemiology
The prevalence is unknown. ... | Congenital atransferrinemia | c0521802 | 3,136 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1195 | 2021-01-23T17:11:07 | {"gard": ["9595"], "mesh": ["C538259"], "omim": ["209300"], "umls": ["C0521802", "C1859593"], "icd-10": ["E88.0"], "synonyms": ["Congenital hypotransferrinemia"]} |
X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.
*... | X-linked intellectual disability, Wilson type | c1839792 | 3,137 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85290 | 2021-01-23T19:11:31 | {"mesh": ["C564106"], "omim": ["309545"], "icd-10": ["Q87.8"]} |
Natural, unexpected death from cardiac arrest of athletes
"Sudden death (athletes)" redirects here. For tie-breaking procedure, see Sudden death (sports). For similar terms, see Sudden death (disambiguation).
Defibrillator training kit
It remains a difficult medical challenge to prevent the sudden cardiac death of... | Sudden cardiac death of athletes | None | 3,138 | wikipedia | https://en.wikipedia.org/wiki/Sudden_cardiac_death_of_athletes | 2021-01-18T18:32:42 | {"wikidata": ["Q2099945"]} |
Meleda disease
Other namesKeratosis palmoplantaris transgrediens of Siemens
Meleda disease has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics
SymptomsDry, thick patches of skin
CausesHereditary; autosomal recessive trait
Meleda disease (MDM) or "mal de Meleda", also called Mlj... | Meleda disease | c0025221 | 3,139 | wikipedia | https://en.wikipedia.org/wiki/Meleda_disease | 2021-01-18T19:03:12 | {"gard": ["3096", "92"], "mesh": ["D007645"], "umls": ["C0025221"], "orphanet": ["87503"], "wikidata": ["Q4352925"]} |
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in p... | Common variable immune deficiency | c3809928 | 3,140 | medlineplus | https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/ | 2021-01-27T08:25:14 | {"gard": ["6140"], "omim": ["615559", "607594", "615577", "615767", "616576", "616873", "240500", "613493", "613494", "613495", "613496", "614699", "614700"], "synonyms": []} |
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: "Cerebellopontine angle syndrome" – news · newspapers · books · scholar · JSTOR (December 2015) (Learn how and when to r... | Cerebellopontine angle syndrome | c0271518 | 3,141 | wikipedia | https://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome | 2021-01-18T19:08:55 | {"umls": ["C0271518"], "icd-9": ["ICD-10-CM D33.1", "191.6"], "wikidata": ["Q640437"]} |
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and c... | Radial deficiency-tibial hypoplasia syndrome | None | 3,142 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1121 | 2021-01-23T18:00:06 | {"icd-10": ["Q73.8"]} |
poisoning of humans from pesticide exposure
Pesticide toxicity
A sign warning about potential pesticide exposure.
SpecialtyEmergency medicine, toxicology
A pesticide poisoning occurs when pesticides, chemicals intended to control a pest, affect non-target organisms such as humans, wildlife, plant or bees. T... | Pesticide poisoning | c0275009 | 3,143 | wikipedia | https://en.wikipedia.org/wiki/Pesticide_poisoning | 2021-01-18T19:04:08 | {"icd-9": ["989.4"], "icd-10": ["T60"], "wikidata": ["Q839525"]} |
Congenital tufting enteropathy is an inherited disorder of the small intestine that presents with intractable diarrhea in young children.
## Contents
* 1 History
* 2 Genetics
* 3 Pathology
* 4 Clinical
* 5 Differential diagnosis
* 6 Associated conditions
* 7 References
## History[edit]
The first... | Congenital tufting enteropathy | c2750737 | 3,144 | wikipedia | https://en.wikipedia.org/wiki/Congenital_tufting_enteropathy | 2021-01-18T18:54:47 | {"gard": ["10630"], "mesh": ["C567703"], "umls": ["C2750737"], "orphanet": ["92050"], "wikidata": ["Q5160453"]} |
A number sign (#) is used with this entry because Fanconi anemia of complementation group O (FANCO) is caused by homozygous mutation in the RAD51C gene (602774) on chromosome 17q22.
Description
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic... | FANCONI ANEMIA, COMPLEMENTATION GROUP O | c0015625 | 3,145 | omim | https://www.omim.org/entry/613390 | 2019-09-22T15:58:50 | {"doid": ["0111096"], "mesh": ["D005199"], "omim": ["613390"], "orphanet": ["84"], "genereviews": ["NBK1401", "NBK5192"]} |
A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less... | Brachydactyly type B1 | c1862112 | 3,146 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=572385 | 2021-01-23T18:37:31 | {"mesh": ["C566196"], "omim": ["113000"]} |
According to the Global Fund, Honduras is the Central American country most adversely affected by the HIV/AIDS epidemic.[1] As of 1998, Honduras had the highest prevalence of HIV out of all seven Central American countries according to a study published by the office of the Honduran Secretary of Public Health. As of ... | HIV/AIDS in Honduras | None | 3,147 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Honduras | 2021-01-18T19:00:49 | {"wikidata": ["Q5629842"]} |
Small blue round cells of Ewing Sarcoma
Display of small round blue cells characteristic of desmoplastic small round cell tumour.
In histopathology, a small-blue-round-cell tumour (abbreviated SBRCT), also known as a small-round-blue-cell tumor (SRBCT) or a small-round-cell tumour (SRCT), is any one of a group ... | Small-blue-round-cell tumor | None | 3,148 | wikipedia | https://en.wikipedia.org/wiki/Small-blue-round-cell_tumor | 2021-01-18T18:55:21 | {"wikidata": ["Q7542594"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-33 (RP33) is caused by heterozygous mutation in the SNRNP200 gene (601664) on chromosome 2q11.
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Zhao e... | RETINITIS PIGMENTOSA 33 | c0035334 | 3,149 | omim | https://www.omim.org/entry/610359 | 2019-09-22T16:04:41 | {"doid": ["0110366"], "mesh": ["D012174"], "omim": ["610359"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
Middle ear disease
Mastoiditis
Side view of head, showing surface relations of bones. (Mastoid process labeled near center.)
SpecialtyOtorhinolaryngology
Mastoiditis is the result of an infection that extends to the air cells of the skull behind the ear. Specifically, it is an inflammation of the mucosal li... | Mastoiditis | c0024904 | 3,150 | wikipedia | https://en.wikipedia.org/wiki/Mastoiditis | 2021-01-18T18:52:34 | {"mesh": ["D008417"], "umls": ["C0024904"], "wikidata": ["Q509389"]} |
A number sign (#) is used with this entry because this form of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS1) is caused by a heterozygous hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene (614260) on chromosome 9p21. Unaffected individuals have 2 to 19 repe... | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 | c3888102 | 3,151 | omim | https://www.omim.org/entry/105550 | 2019-09-22T16:45:11 | {"doid": ["0060213"], "mesh": ["C566288"], "omim": ["105550"], "orphanet": ["275872"], "synonyms": ["Alternative titles", "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS", "FRONTOTEMPORAL DEMENTIA AND/OR MOTOR NEURON DISEASE", "AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA"], "genereviews":... |
A number sign (#) is used with this entry because of evidence that nonautoimmune hyperthyroidism is caused by heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR; 603372) on chromosome 14q31.
Mutation in the TSHR gene can also cause thyrotropin resistance and nonautoimmune hypothyroidism (27... | HYPERTHYROIDISM, NONAUTOIMMUNE | c1836706 | 3,152 | omim | https://www.omim.org/entry/609152 | 2019-09-22T16:06:35 | {"doid": ["7998"], "mesh": ["C563786"], "omim": ["609152"], "orphanet": ["424"], "synonyms": ["HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE", "Resistance to thyroid stimulating hormone", "Alternative titles", "Familial non-immune hyperthyroidism", "HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT", "TOXIC THYROID HYPERP... |
Nevus sebaceus
Nevus sebaceus or sebaceous nevus (the first term is its Latin name, the second term is its name in English; also known as an "organoid nevus"[1]:661 and "nevus sebaceus of Jadassohn"[2]:773) is a congenital, hairless plaque that typically occurs on the face or scalp.[3] Such nevi are classified a... | Nevus sebaceous | c4552097 | 3,153 | wikipedia | https://en.wikipedia.org/wiki/Nevus_sebaceous | 2021-01-18T18:45:19 | {"mesh": ["D054000"], "icd-9": ["238.2"], "icd-10": ["Q82.5"], "wikidata": ["Q1574843"]} |
Relapsing fever
SpecialtyInfectious disease
Relapsing fever is a vector-borne disease caused by infection with certain bacteria in the genus Borrelia,[1] which is transmitted through the bites of lice or soft-bodied ticks (genus Ornithodoros).[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.... | Relapsing fever | c0035021 | 3,154 | wikipedia | https://en.wikipedia.org/wiki/Relapsing_fever | 2021-01-18T18:37:51 | {"mesh": ["D012061"], "umls": ["C0035021"], "orphanet": ["91547"], "wikidata": ["Q690032"]} |
Bannayan–Riley–Ruvalcaba syndrome
Other namesBRRS
Autosomal dominant is the manner in which this condition is inherited
SpecialtyOncology, medical genetics
SymptomsEnlarged head[1]
CausesMutations in the PTEN gene [2]
Diagnostic methodBased on signs and symptoms[3]
TreatmentBased on symptoms[3]
... | Bannayan–Riley–Ruvalcaba syndrome | c0265326 | 3,155 | wikipedia | https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome | 2021-01-18T18:33:14 | {"gard": ["5887"], "mesh": ["D006223"], "umls": ["C0265326"], "orphanet": ["109"], "wikidata": ["Q474254"]} |
A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-4 (LCCS4) can be caused by homozygous mutation in the MYBPC1 gene (160794) on chromosome 12q23.
For a general phenotypic description and discussion of genetic heterogeneity of LCCS, see LCCS1 (253310).
Mole... | LETHAL CONGENITAL CONTRACTURE SYNDROME 4 | c1969655 | 3,156 | omim | https://www.omim.org/entry/614915 | 2019-09-22T15:53:44 | {"mesh": ["C566961"], "omim": ["614915"], "orphanet": ["137783"]} |
Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus. The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body. This condition typically occurs in people a... | Lupus nephritis | c0024143 | 3,157 | gard | https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis | 2021-01-18T17:59:18 | {"mesh": ["D008181"], "umls": ["C0024143"], "synonyms": []} |
MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L).
MEGDEL syndrome is characterized by abnormally high levels of an acid, called 3-methylglutaconic acid,... | MEGDEL syndrome | c3553597 | 3,158 | medlineplus | https://medlineplus.gov/genetics/condition/megdel-syndrome/ | 2021-01-27T08:25:30 | {"gard": ["12963"], "omim": ["614739"], "synonyms": []} |
Laryngeal papillomatosis
Other namesAdult papillomatosis, Juvenile papillomatosis, Recurrent respiratory papillomatosis, Squamous cell papillomatosis, Nonkeratinized papillomatosis
Volumetric CT rendering of multiple tracheal papilloma (arrow).
SpecialtyOtorhinolaryngology
ComplicationsSquamous cell carcinoma... | Laryngeal papillomatosis | c1168198 | 3,159 | wikipedia | https://en.wikipedia.org/wiki/Laryngeal_papillomatosis | 2021-01-18T18:42:24 | {"gard": ["111", "6864"], "mesh": ["C535297"], "umls": ["C1168198"], "icd-9": ["212.1"], "icd-10": ["D14.1"], "orphanet": ["60032"], "wikidata": ["Q3497004"]} |
Rare eating disorder caused by injury to the frontal lobe or limbic structures
Gourmand syndrome
Frontal lobe (at right)
SpecialtyNeurology
Gourmand syndrome is a very rare and benign eating disorder that usually occurs six to twelve months after an injury to the frontal lobe.[1][2][3][4] Those with the... | Gourmand syndrome | None | 3,160 | wikipedia | https://en.wikipedia.org/wiki/Gourmand_syndrome | 2021-01-18T18:43:56 | {"wikidata": ["Q5588436"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive epidermolysis bullosa simplex-2 (EBSB2) is caused by homozygous mutation in the DST (BPAG1) gene (113810) on chromosome 6p12.
Description
EBSB2 is a mild autosomal recessive dermatologic disorder characterized by trauma-induc... | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 | c3809470 | 3,161 | omim | https://www.omim.org/entry/615425 | 2019-09-22T15:52:10 | {"doid": ["4644"], "omim": ["615425"], "orphanet": ["412181"], "synonyms": ["DST-related epidermolysis bullosa simplex", "EBS-AR BP230"]} |
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. Constriction by the membrane may cause the lips and eyelids to be turned out so the inner surface ... | Nonbullous congenital ichthyosiform erythroderma | c3554355 | 3,162 | medlineplus | https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma/ | 2021-01-27T08:25:08 | {"gard": ["9736"], "omim": ["615024", "617320", "242100", "606545", "601277", "604777", "612281", "615023"], "synonyms": []} |
Neuroendocrine hyperplasia
Other namesNeuroendocrine cell hyperplasia of infancy
SpecialtyPulmonology
Neuroendocrine hyperplasia is rare and poorly understood lung condition which causes abnormal growth pulmonary neuroendocrine cells in the lungs. It is a progressive hyperplastic process that ultimately resu... | Neuroendocrine hyperplasia | c3161105 | 3,163 | wikipedia | https://en.wikipedia.org/wiki/Neuroendocrine_hyperplasia | 2021-01-18T19:04:13 | {"umls": ["C3161105"], "orphanet": ["217560"], "wikidata": ["Q16946826"]} |
Phallophobia
SpecialtyPsychology
Phallophobia in its narrower sense is a fear of the erect penis[1][2][3] and in a broader sense an excessive aversion to masculinity.[4]
## Contents
* 1 Terminology
* 2 Scope
* 3 Cause
* 4 Behavior
* 5 References
## Terminology[edit]
Alternative terms for this... | Phallophobia | None | 3,164 | wikipedia | https://en.wikipedia.org/wiki/Phallophobia | 2021-01-18T18:45:25 | {"wikidata": ["Q22162415"]} |
Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.
## Epidemiology
It has been described in five patients (three boys and two girls).
## Clinical description
Maternal hypertension, oligoamnios and intra... | Oculo-palato-cerebral syndrome | c1850338 | 3,165 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2714 | 2021-01-23T18:22:10 | {"mesh": ["C564935"], "omim": ["257910"], "umls": ["C1850338"], "icd-10": ["Q87.1"], "synonyms": ["Oculo-palato-cerebral dwarfism"]} |
## Clinical Features
The pigment dispersion syndrome with open-angle glaucoma usually affects individuals under the age of 30 years. In addition to the typical optic nerve degeneration seen in all forms of glaucoma, the pigment dispersion syndrome is characterized by distinctive clinical features. One feature is th... | GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME | c1271398 | 3,166 | omim | https://www.omim.org/entry/600510 | 2019-09-22T16:16:04 | {"doid": ["0060680"], "mesh": ["C563184"], "omim": ["600510"], "synonyms": ["Alternative titles", "GLAUCOMA, PIGMENT-DISPERSION TYPE", "PIGMENT DISPERSION SYNDROME"]} |
Janeway lesion
Specialty
* Cardiology
* Dermatology
SymptomsPainless red flat papules on palms and soles.
Usual onsetSudden
DurationDays to weeks
CausesInfective endocarditis
Differential diagnosisOsler's nodes
Janeway lesions are rare, non-tender, small erythematous or haemorrhagic macular, p... | Janeway lesion | c1532713 | 3,167 | wikipedia | https://en.wikipedia.org/wiki/Janeway_lesion | 2021-01-18T18:31:57 | {"umls": ["C1532713"], "icd-10": ["A41.8"], "wikidata": ["Q1149382"]} |
Hangman's fracture
CT scan of hangman's fracture
SpecialtyOrthopedic
Hangman's fracture is the colloquial name given to a fracture of both pedicles, or pars interarticulares, of the axis vertebra (C2).
## Contents
* 1 Causes
* 2 Mechanisms
* 3 Prevention
* 3.1 Car crashes
* 3.2 Contact sp... | Hangman's fracture | c0434858 | 3,168 | wikipedia | https://en.wikipedia.org/wiki/Hangman%27s_fracture | 2021-01-18T18:44:52 | {"mesh": ["D016103"], "icd-9": ["805.02"], "icd-10": ["S12.1"], "wikidata": ["Q2365851"]} |
See also: Poisoning of Sergei and Yulia Skripal
2018 Amesbury poisonings
LocationAmesbury, Wiltshire, England
Date30 June 2018
WeaponsA-234 (suspected chemical weapon used)
DeathsDawn Sturgess
(8 July 2018, aged 44, after being admitted to hospital)
InjuredCharlie Rowley
(45; admitted to hospital; ... | 2018 Amesbury poisonings | None | 3,169 | wikipedia | https://en.wikipedia.org/wiki/2018_Amesbury_poisonings | 2021-01-18T18:31:57 | {"wikidata": ["Q55381117"]} |
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
## Epidemiology
To date, only 23 affected patients have been described from one American family of Norwegian descent.... | Spinocerebellar ataxia type 26 | c1836395 | 3,170 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101112 | 2021-01-23T17:31:31 | {"gard": ["9995"], "mesh": ["C537203"], "omim": ["609306"], "umls": ["C1836395"], "icd-10": ["G11.2"], "synonyms": ["SCA26"]} |
Waltman Walter syndrome
Waltman Walters syndrome[1] is characterized by accumulation of bile in the right subphrenic or subhepatic space, even when provision for drainage appears to have been adequate after a cholecystectomy. It is named for Dr. Waltman Walters, an abdominal surgeon at the Mayo Clinic in Rochest... | Waltman Walter syndrome | None | 3,171 | wikipedia | https://en.wikipedia.org/wiki/Waltman_Walter_syndrome | 2021-01-18T18:31:50 | {"wikidata": ["Q7966693"]} |
A number sign (#) is used with this entry because of evidence that early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS) is caused by homozygous or compound heterozygous mutation in the TRAPPC12 gene (614139) on chromosome 2p25.
Clinical Features
Milev et al. (2017) reported 3 children fr... | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | c4540059 | 3,172 | omim | https://www.omim.org/entry/617669 | 2019-09-22T15:45:13 | {"omim": ["617669"], "orphanet": ["500144"], "synonyms": []} |
Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehy... | Primary anetoderma | c0406550 | 3,173 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228272 | 2021-01-23T16:59:33 | {"mesh": ["D057088"], "umls": ["C0406550"], "icd-10": ["L90.1", "L90.2"], "synonyms": ["Primary macular atrophy"]} |
Rhinosporidiosis
Rhinosporidiosis in oropharynx
SpecialtyInfectious disease
Rhinosporidiosis is an infection caused by Rhinosporidium seeberi.[1][2]
## Contents
* 1 Classification
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Classifica... | Rhinosporidiosis | c0035469 | 3,174 | wikipedia | https://en.wikipedia.org/wiki/Rhinosporidiosis | 2021-01-18T18:51:01 | {"mesh": ["D012227"], "umls": ["C0035469"], "wikidata": ["Q4845643"]} |
X-Linked Myopathy with Excessive Autophagy (XMEA) is a type of inherited myopathy (muscle disease) that mainly affects males. It is characterized by muscle weakness that begins in childhood that slowly worsens over time. Weakness involving the upper legs is typically noticed first, affecting activities such as ru... | X-linked myopathy with excessive autophagy | c1839615 | 3,175 | gard | https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy | 2021-01-18T17:57:02 | {"mesh": ["C564093"], "omim": ["310440"], "umls": ["C1839615"], "orphanet": ["25980"], "synonyms": ["XMEA", "Myopathy, X-linked, with excessive autophagy"]} |
Joubert syndrome
Other namesCPD IV[1]
Joubert syndrome is inherited via an autosomal recessive manner
SpecialtyMedical genetics
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Joubert syndrome is one ... | Joubert syndrome | c0431399 | 3,176 | wikipedia | https://en.wikipedia.org/wiki/Joubert_syndrome | 2021-01-18T18:34:20 | {"gard": ["6802"], "mesh": ["C536293"], "umls": ["C0431399"], "icd-9": ["742.2"], "orphanet": ["475"], "wikidata": ["Q1101694"]} |
Terminal osseous dysplasia with pigmentary defects
SpecialtyDermatology
Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by hyperpigmented, atrophic facial macules.[1]
It has been associated with FLNA.[2]
## See also[edit]
* Corneodermatosseous syndrome
* Oss... | Terminal osseous dysplasia with pigmentary defects | c1846129 | 3,177 | wikipedia | https://en.wikipedia.org/wiki/Terminal_osseous_dysplasia_with_pigmentary_defects | 2021-01-18T18:59:56 | {"mesh": ["C564554"], "umls": ["C1846129"], "orphanet": ["88630"], "wikidata": ["Q7702740"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Uterine hypoplasia" – news · newspaper... | Uterine hypoplasia | c0266399 | 3,178 | wikipedia | https://en.wikipedia.org/wiki/Uterine_hypoplasia | 2021-01-18T18:42:21 | {"umls": ["C0266399"], "icd-9": ["752.32"], "orphanet": ["180139"], "wikidata": ["Q16636845"]} |
Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
## Epidemiology
Prevalence is ... | Kindler syndrome | c0406557 | 3,179 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2908 | 2021-01-23T18:29:42 | {"gard": ["4391"], "mesh": ["C536321"], "umls": ["C0406557"], "icd-10": ["Q81.8"], "synonyms": ["Congenital bullous poikiloderma", "Poikiloderma of Kindler"]} |
Brain-lung-thyroid syndrome is a group of conditions that affect the brain, lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). Brain-lung-thyroid syndrome historically included problems with all three organs, although the designation now encompasses a combination of brain, lung, and thyroid proble... | Brain-lung-thyroid syndrome | c1970269 | 3,180 | medlineplus | https://medlineplus.gov/genetics/condition/brain-lung-thyroid-syndrome/ | 2021-01-27T08:25:24 | {"gard": ["1305", "12163"], "mesh": ["C567034"], "omim": ["610978"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Gerstmann-Straussler disease (GSD) and a form of cerebral amyloid angiopathy are caused by heterozygous mutation in the prion protein gene (PRNP; 176640) on chromosome 20p13.
Creutzfeldt-Jakob disease (CJD; 123400) and familial fatal insomnia (FFI; 6... | GERSTMANN-STRAUSSLER DISEASE | c0017495 | 3,181 | omim | https://www.omim.org/entry/137440 | 2019-09-22T16:40:44 | {"doid": ["4249"], "mesh": ["D016098"], "omim": ["137440"], "icd-9": ["046.71"], "icd-10": ["A81.82"], "orphanet": ["356"], "synonyms": ["Alternative titles", "ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE", "GERSTMANN-STRAUSSLER-SCHEINKER DISEASE", "CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID... |
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels... | Severe congenital hypochromic anemia with ringed sideroblasts | c3808920 | 3,182 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300298 | 2021-01-23T17:11:18 | {"omim": ["615234"], "icd-10": ["D64.0"], "synonyms": ["Severe congenital hypochromic sideroblastic anemia"]} |
Homocystinuria due to MTHFR deficiency is a genetic condition that results from poor metabolism of folate (also called vitamin B9), due to a lack of working enzyme called MTHFR. The gene that tells our body how to make the enzyme is also called MTHFR. At least 40 rare MTHFR gene variants have been found in people wit... | Homocystinuria due to MTHFR deficiency | c1856061 | 3,183 | gard | https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency | 2021-01-18T17:59:58 | {"mesh": ["C537357"], "omim": ["236250"], "orphanet": ["395"], "synonyms": ["Homocysteinemia due to methylenetetrahydro-folate reductase deficiency", "Methylenetetrahydro-folate reductase deficiency", "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency", "5,10-alpha-methylenetetrahydro-folate reduct... |
With less than 0.1 percent of the population estimated to be HIV-positive, Bangladesh is a low HIV-prevalence country.
## Contents
* 1 Prevalence
* 2 Preventive programs
* 3 Tuberculosis
* 4 National response
* 5 References
## Prevalence[edit]
The country faces a concentrated epidemic, and its very low ... | HIV/AIDS in Bangladesh | None | 3,184 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Bangladesh | 2021-01-18T19:01:47 | {"wikidata": ["Q5629816"]} |
2p15-16.1 microdeletion syndrome
Other namesMonosomy 2p15-p16.1
Chromosome 2(where deletion for this condition occurs)
SpecialtyMedical genetics
2p15-16.1 microdeletion is an extremely rare genetic disorder caused by a small deletion in the short arm of human chromosome 2. First described in two patien... | 2p15-16.1 microdeletion syndrome | c2675875 | 3,185 | wikipedia | https://en.wikipedia.org/wiki/2p15-16.1_microdeletion_syndrome | 2021-01-18T19:02:11 | {"gard": ["13391"], "mesh": ["C567289"], "umls": ["C2675875"], "orphanet": ["261349"], "wikidata": ["Q4633988"]} |
In this condition the spinal cord is divided longitudinally in the anteroposterior plane by a fibrous or bony structure. The cases are usually isolated but affected sisters were reported by Kapsalakis (1964). Gardner (1973) described a family in which 3 sisters had diastematomyelia and other dysraphic malformatio... | DIASTEMATOMYELIA | c0011999 | 3,186 | omim | https://www.omim.org/entry/222500 | 2019-09-22T16:28:43 | {"mesh": ["D009436"], "omim": ["222500"], "icd-9": ["742.51"], "icd-10": ["Q06.2"], "orphanet": ["1671"]} |
A number sign (#) is used with this entry because congenital nongoitrous hypothyroidism-5 (CHNG5) is caused by heterozygous mutation in the NKX2-5 gene (600584) on chromosome 5q35.
For a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidism, see 275200.
Mo... | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 | c0151516 | 3,187 | omim | https://www.omim.org/entry/225250 | 2019-09-22T16:28:24 | {"doid": ["0070125"], "mesh": ["D050033"], "omim": ["225250"], "orphanet": ["95720", "95713", "95712"]} |
Purple urine bag syndrome
Purple urine bag syndrome usually presents as urine with a purplish discoloration accumulating in a catheterized person's collection bag.
Purple urine bag syndrome (PUBS) is a medical syndrome where purple discoloration of urine occurs in people with urinary catheters and co-existent ... | Purple urine bag syndrome | c4324366 | 3,188 | wikipedia | https://en.wikipedia.org/wiki/Purple_urine_bag_syndrome | 2021-01-18T19:00:13 | {"umls": ["CL519275"], "wikidata": ["Q7261489"]} |
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: "Nasolacrimal duct obstruction" – news · newspapers · books · scholar · JSTOR (August 2012) (Learn how and when to remov... | Nasolacrimal duct obstruction | c0022906 | 3,189 | wikipedia | https://en.wikipedia.org/wiki/Nasolacrimal_duct_obstruction | 2021-01-18T19:02:38 | {"mesh": ["D007767"], "umls": ["C0022906", "C1281931"], "wikidata": ["Q5797309"]} |
## Clinical Features
Zhao et al. (1995) reported a 4-generation Chinese family in which retinitis pigmentosa affected only males. All sons of affected males were affected, but all 4 daughters of affected males (and all children of these daughters) were healthy.
Inheritance
According to Zhao et al. (1995) the ... | RETINITIS PIGMENTOSA, Y-LINKED | c0035334 | 3,190 | omim | https://www.omim.org/entry/400004 | 2019-09-22T16:17:02 | {"doid": ["0110418"], "mesh": ["D012174"], "omim": ["400004"], "orphanet": ["791"]} |
A primary tumor is a tumor growing at the anatomical site where tumor progression began and proceeded to yield a cancerous mass. Most cancers develop at their primary site but then go on to metastasize or spread to other parts of the body. These further tumors are secondary tumors.
Most cancers continue to be called... | Primary tumor | c1306459 | 3,191 | wikipedia | https://en.wikipedia.org/wiki/Primary_tumor | 2021-01-18T18:49:42 | {"umls": ["C1306459"], "wikidata": ["Q2110267"]} |
A calciumopathy is a disease caused by disruption to the use of calcium within a cell. To a large extent, a calciumopathy is a type of channelopathy, or a disease caused by disturbed function of ion channel subunits or the proteins that regulate them; calciumopathies also include dysfunctions of regulatory pathwa... | Calciumopathy | None | 3,192 | wikipedia | https://en.wikipedia.org/wiki/Calciumopathy | 2021-01-18T18:49:55 | {"wikidata": ["Q5018845"]} |
A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and min... | Hypotonia-cystinuria syndrome | c1848030 | 3,193 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690 | 2021-01-23T18:24:21 | {"mesh": ["C564710"], "omim": ["606407"], "umls": ["C1848030"], "icd-10": ["E72.0"], "synonyms": ["HCS"]} |
Total recorded alcohol per capita consumption (15+), in litres of pure alcohol.[1]
Alcoholic beverages are classified by the International Agency for Research on Cancer (IARC) as a Group 1 carcinogen (carcinogenic to humans). IARC classifies alcoholic beverage consumption as a cause of female breast, colorectal, lar... | Alcohol and cancer | None | 3,194 | wikipedia | https://en.wikipedia.org/wiki/Alcohol_and_cancer | 2021-01-18T18:38:27 | {"wikidata": ["Q4713253"]} |
Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypot... | Autosomal recessive spastic paraplegia type 77 | c4310750 | 3,195 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466722 | 2021-01-23T17:00:59 | {"omim": ["617046"], "icd-10": ["G11.4"], "synonyms": ["SPG77"]} |
Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and the central nervous system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In neuromyelitis optica, the autoimmune attack caus... | Neuromyelitis optica | c0027873 | 3,196 | medlineplus | https://medlineplus.gov/genetics/condition/neuromyelitis-optica/ | 2021-01-27T08:25:11 | {"gard": ["6267"], "mesh": ["D009471"], "omim": ["600308"], "synonyms": []} |
A number sign (#) is used with this entry because Ehlers-Danlos syndrome classic type 1 (EDSCL1) is caused by heterozygous mutation in the collagen alpha-1(V) gene (COL5A1; 120215) on chromosome 9q34.
Rarely, specific mutations in the COL1A1 gene (e.g., R134C, 120150.0059) cause classic EDS.
Description
The Ehlers... | EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | c0220679 | 3,197 | omim | https://www.omim.org/entry/130000 | 2019-09-22T16:41:49 | {"doid": ["14720"], "mesh": ["C562424"], "omim": ["130000"], "orphanet": ["287"], "synonyms": ["Alternative titles", "EHLERS-DANLOS SYNDROME, TYPE I, FORMERLY", "EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE, FORMERLY", "EDS I, FORMERLY", "EHLERS-DANLOS SYNDROME, GRAVIS TYPE, FORMERLY"], "genereviews": ["NBK1244"]} |
Degenerative brain disease caused by prions
Not to be confused with Creutzfeldt–Jakob disease.
Variant Creutzfeldt–Jakob disease
Other namesNew variant Creutzfeldt–Jakob disease (nvCJD)
Biopsy of the tonsil in variant CJD. Prion protein immunostaining.
SpecialtyNeurology
SymptomsInitial: Psychiatric problem... | Variant Creutzfeldt–Jakob disease | c0376329 | 3,198 | wikipedia | https://en.wikipedia.org/wiki/Variant_Creutzfeldt%E2%80%93Jakob_disease | 2021-01-18T18:48:21 | {"gard": ["9550"], "mesh": ["D007562"], "umls": ["C0376329"], "icd-9": ["046.1"], "icd-10": ["A81.0", "F02.1"], "wikidata": ["Q2323502"]} |
A number sign (#) is used with this entry because multiple types of cataract (CTRCT9) are caused by heterozygous or homozygous mutation in the CRYAA gene (123580), which encodes alpha-A-crystallin, on chromosome 21q22.
Description
Mutations in the CRYAA gene have been found to cause multiple types of cataract, whic... | CATARACT 9, MULTIPLE TYPES | c1861829 | 3,199 | omim | https://www.omim.org/entry/604219 | 2019-09-22T16:12:17 | {"doid": ["0110266"], "mesh": ["C538287"], "omim": ["604219"], "icd-10": ["Q12.0"], "orphanet": ["91492", "1377"], "synonyms": ["CATARACT, AUTOSOMAL DOMINANT", "Alternative titles", "CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA", "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1"]} |
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