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For the tactical shooting technique, see Flaccid paralysis (shooting).
"Flaccid" redirects here. For the states of the half-erect penis or clitoris tissues, see Tumescence.
Flaccid paralysis
Pronunciation
* /ˈflæksɪd pəˈræləsɪs/
SpecialtyNeurology
Flaccid paralysis is a neurological condition chara... | Flaccid paralysis | c0085620 | 3,600 | wikipedia | https://en.wikipedia.org/wiki/Flaccid_paralysis | 2021-01-18T18:53:04 | {"icd-9": ["359.9"], "icd-10": ["G82.0", "G82.3", "G81.0"], "wikidata": ["Q5456583"]} |
Human disease
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: "La Crosse encephalitis" – news · newspapers · books · scholar · JSTOR (September 2015) (Learn how an... | La Crosse encephalitis | c0014053 | 3,601 | wikipedia | https://en.wikipedia.org/wiki/La_Crosse_encephalitis | 2021-01-18T18:45:51 | {"gard": ["10820", "10925"], "mesh": ["D004670"], "umls": ["C0014053"], "orphanet": ["83483"], "wikidata": ["Q2713959"]} |
A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configura... | Pulmonary blastoma | c0206629 | 3,602 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=64741 | 2021-01-23T17:05:14 | {"mesh": ["D018202"], "umls": ["C0206629"], "icd-10": ["C34.1", "C34.2", "C34.3", "C34.8", "C34.9"], "synonyms": ["Pneumoblastoma"]} |
Not to be confused with Athetoid cerebral palsy.
Athetosis
Bilateral athetosis
SpecialtyNeurology
Athetosis is a symptom characterized by slow, involuntary, convoluted, writhing movements of the fingers, hands, toes, and feet and in some cases, arms, legs, neck and tongue.[1] Movements typical of athetosis ... | Athetosis | c0004158 | 3,603 | wikipedia | https://en.wikipedia.org/wiki/Athetosis | 2021-01-18T18:57:28 | {"gard": ["5863"], "mesh": ["D001264"], "umls": ["C1845265", "C0004158"], "icd-9": ["781.0"], "icd-10": ["R25.8"], "wikidata": ["Q755524"]} |
A Howell–Jolly body (marked by arrow) within an erythrocyte
A Howell–Jolly body is a cytopathological finding of basophilic nuclear remnants (clusters of DNA) in circulating erythrocytes. During maturation in the bone marrow, late erythroblasts normally expel their nuclei; but, in some cases, a small portion of ... | Howell–Jolly body | c0020058 | 3,604 | wikipedia | https://en.wikipedia.org/wiki/Howell%E2%80%93Jolly_body | 2021-01-18T19:00:58 | {"mesh": ["D004908"], "umls": ["C0020058"], "wikidata": ["Q1291359"]} |
Multiple myeloma is a cancer that develops in the bone marrow, the spongy tissue found in the center of most bones. The bone marrow produces red blood cells, which carry oxygen throughout the body; white blood cells, which form the body's defenses (immune system); and platelets, which are necessary for blood clot... | Multiple myeloma | c0268381 | 3,605 | medlineplus | https://medlineplus.gov/genetics/condition/multiple-myeloma/ | 2021-01-27T08:25:19 | {"gard": ["7108"], "mesh": ["D000075363"], "omim": ["254500"], "synonyms": []} |
Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower... | Autosomal recessive spastic paraplegia type 27 | c1836899 | 3,606 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101007 | 2021-01-23T17:01:56 | {"mesh": ["C563807"], "omim": ["609041"], "umls": ["C1836899"], "icd-10": ["G11.4"], "synonyms": ["SPG27"]} |
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type IIp (CDG2P) is caused by homozygous or compound heterozygous mutation in the TMEM199 gene (616815) on chromosome 17q11.
Description
Congenital disorder of glycosylation type IIp (CDG2P) is an autosomal reces... | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | c4225190 | 3,607 | omim | https://www.omim.org/entry/616829 | 2019-09-22T15:47:47 | {"doid": ["0070268"], "omim": ["616829"], "orphanet": ["466703"], "synonyms": ["CDG-IIp", "CDG IIp", "Alternative titles", "Congenital disorder of glycosylation type 2p", "Congenital disorder of glycosylation type IIp", "CDG syndrome type IIp", "CDG2P", "Carbohydrate deficient glycoprotein syndrome type IIp"]} |
In Finland Furuhjelm et al. (1968) found an antibody that tests for a previously unknown antigen called Ul(a). The antigen was present in 2.6% of Helsinki donors. Independence from Kell, Yt and Diego systems was not yet proved but it was independent of other systems. The Ul(a) locus may be within measurable distance ... | BLOOD GROUP--Ul SYSTEM | None | 3,608 | omim | https://www.omim.org/entry/112000 | 2019-09-22T16:44:11 | {"omim": ["112000"]} |
Janus kinase 3 deficiency
Other namesJAK3 deficiency
JAK3 (Janus kinase 3) deficiency is a dysfunction in cytokine receptor signalling and their production of cytokines.
JAK3 is a tyrosine protein kinase, an enzyme that is encoded by the JAK3 gene. It is a kinase that is activated only by cytokines whose rece... | Janus kinase 3 deficiency | c1833275 | 3,609 | wikipedia | https://en.wikipedia.org/wiki/Janus_kinase_3_deficiency | 2021-01-18T18:42:58 | {"mesh": ["C563440"], "omim": ["600802"], "orphanet": ["35078"], "synonyms": ["T-B+ SCID due to JAK3 deficiency"], "wikidata": ["Q6155971"]} |
This article is about the swelling of an eyelid. For the article of a pen with pigs, see Sty. For other uses of Sty, see Sty (disambiguation).
Stye
Other namesSty, hordeolum[1]
An external stye on the upper eyelid
Pronunciation
* Stye /staɪ/, hordeolum /hɔːrˈdiːələm/
SpecialtyOphthalmology, optometry... | Stye | c0019917 | 3,610 | wikipedia | https://en.wikipedia.org/wiki/Stye | 2021-01-18T18:47:35 | {"mesh": ["D006726"], "umls": ["C0019917", "C4280376"], "icd-9": ["373.11"], "wikidata": ["Q202173"]} |
Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), ... | Ring chromosome 20 | c2930886 | 3,611 | gard | https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20 | 2021-01-18T17:57:53 | {"mesh": ["C535369"], "umls": ["C2930886"], "orphanet": ["1444"], "synonyms": ["Chromosome 20 ring", "Ring 20", "R20", "Ring chromosome 20 syndrome"]} |
Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
## Epidemiology
Incidence at birth is in the range of 1/20,000.
## Clinical description
The skull ... | Isolated brachycephaly | c0221356 | 3,612 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35099 | 2021-01-23T17:40:18 | {"mesh": ["D003398"], "omim": ["123100", "615314", "616602"], "umls": ["C0221356"], "icd-10": ["Q75.0"], "synonyms": ["Non-syndromic bicoronal synostosis"]} |
Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, f... | Multiple mitochondrial dysfunctions syndrome | c3276432 | 3,613 | gard | https://rarediseases.info.nih.gov/diseases/12632/multiple-mitochondrial-dysfunctions-syndrome | 2021-01-18T17:58:54 | {"omim": ["605711", "614299", "615330", "616370"], "orphanet": ["289573"], "synonyms": ["Fatal multiple mitochondrial dysfunctions syndrome", "Fatal multiple mitochondrial dysfunction syndrome"]} |
Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted ang... | Kasabach-Merritt syndrome | c0221025 | 3,614 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2330 | 2021-01-23T18:34:48 | {"gard": ["70"], "mesh": ["D059885"], "omim": ["141000"], "umls": ["C0221025"], "icd-10": ["D18.0"], "synonyms": ["Hemangioma-thrombocytopenia syndrome"]} |
Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic a... | Glycogen storage disease due to muscle beta-enolase deficiency | c2752027 | 3,615 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99849 | 2021-01-23T18:31:37 | {"gard": ["2125"], "mesh": ["C567861"], "omim": ["612932"], "umls": ["C2752027"], "icd-10": ["E74.0"], "synonyms": ["GSD due to muscle beta-enolase deficiency", "GSDXIII", "Glycogenosis due to muscle beta-enolase deficiency", "Glycogenosis type 13", "Muscle enolase deficiency", "Muscular enolase deficiency"]} |
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. (January 2014)
Odynorgasmia, or painful ejaculation, is a physical syndrome described by pain or burning sensation of the urethra or perineum during or fo... | Odynorgasmia | c0278107 | 3,616 | wikipedia | https://en.wikipedia.org/wiki/Odynorgasmia | 2021-01-18T19:01:36 | {"umls": ["C0278107"], "wikidata": ["Q7078393"]} |
## Clinical Features
Rajab et al. (2003) reported 3 patients, including 2 sibs, with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive bone changes characterized by overtubulation and rarefaction of long bones with dense... | LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES | c1842465 | 3,617 | omim | https://www.omim.org/entry/608154 | 2019-09-22T16:08:13 | {"mesh": ["C564283"], "omim": ["608154"], "orphanet": ["50811"]} |
## Clinical Features
Chitty et al. (1996) described 2 brothers, born of first-cousin parents, with retarded growth, moderate mental retardation, sensorineural deafness, bilateral obstruction of lacrimal ducts, inguinal and umbilical hernias, and femoral epiphyseal dysplasia, predominantly on the left (capital femor... | GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION | c1832438 | 3,618 | omim | https://www.omim.org/entry/601351 | 2019-09-22T16:14:59 | {"mesh": ["C535928"], "omim": ["601351"], "orphanet": ["3218"]} |
Pulmonary valve stenosis
Other namesValvular pulmonary stenosis[1]
SpecialtyCardiology
SymptomsCyanosis, diziness[2]
CausesCongenital (most often)[3]
Diagnostic methodEchocardiogram, Ultrasound[4]
TreatmentValve replacement or surgical repair
Pulmonary valve stenosis (PVS) is a heart valve disorder. ... | Pulmonary valve stenosis | c0034089 | 3,619 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary_valve_stenosis | 2021-01-18T19:01:04 | {"gard": ["4596"], "mesh": ["D011666"], "umls": ["C0034089"], "icd-9": ["424.3", "746.02"], "icd-10": ["I37.0", "I37.2", "Q22.1"], "orphanet": ["99054"], "wikidata": ["Q579527"]} |
## Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discus... | MYOPIA 19, AUTOSOMAL DOMINANT | c3151410 | 3,620 | omim | https://www.omim.org/entry/613969 | 2019-09-22T15:56:56 | {"omim": ["613969"]} |
Type of food allergy caused by peanuts
Peanut allergy
A peanut allergy warning
SpecialtyEmergency medicine
SymptomsItchiness, hives, swelling, eczema, sneezing, asthma attack, abdominal pain, drop in blood pressure, diarrhea, cardiac arrest[1]
CausesType I hypersensitivity[2]
Risk factorsChildhood in devel... | Peanut allergy | c0559470 | 3,621 | wikipedia | https://en.wikipedia.org/wiki/Peanut_allergy | 2021-01-18T19:08:22 | {"mesh": ["D021183"], "umls": ["C0559470"], "icd-9": ["995.61"], "icd-10": ["T78.4"], "wikidata": ["Q7157933"]} |
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) ... | Kleefstra syndrome | c0795833 | 3,622 | medlineplus | https://medlineplus.gov/genetics/condition/kleefstra-syndrome/ | 2021-01-27T08:25:13 | {"gard": ["8672"], "mesh": ["C563043"], "omim": ["610253"], "synonyms": []} |
Rare genetic condition involving underdeveloped eyelids
Blepharophimosis, ptosis, epicanthus inversus syndrome
Other namesBlepharophimosis types 1 and 2
18-year-old female with BPES type 1
This condition is inherited in an autosomal dominant manner.
Blepharophimosis, ptosis, epicanthus inversus syndrome (B... | Blepharophimosis, ptosis, epicanthus inversus syndrome | c0220663 | 3,623 | wikipedia | https://en.wikipedia.org/wiki/Blepharophimosis,_ptosis,_epicanthus_inversus_syndrome | 2021-01-18T18:55:24 | {"mesh": ["C562419"], "umls": ["C0220663"], "orphanet": ["126"], "wikidata": ["Q18554819"]} |
Main articles: Aphasia and Primary progressive aphasia
Progressive nonfluent aphasia (PNFA) is one of three clinical syndromes associated with frontotemporal lobar degeneration. PNFA has an insidious onset of language deficits over time as opposed to other stroke-based aphasias, which occur acutely following tra... | Progressive nonfluent aphasia | c0751706 | 3,624 | wikipedia | https://en.wikipedia.org/wiki/Progressive_nonfluent_aphasia | 2021-01-18T19:04:35 | {"gard": ["10793"], "mesh": ["D057178"], "umls": ["C0751706"], "orphanet": ["100070"], "wikidata": ["Q18583"]} |
A number sign (#) is used with this entry because of evidence that short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) is caused by homozygous or compound heterozygous mutation in the SLC10A7 gene (611459) on chromosome 4q31.
Description
Short stature, amelogenesis imperfecta, and... | SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS | None | 3,625 | omim | https://www.omim.org/entry/618363 | 2019-09-22T15:42:22 | {"omim": ["618363"]} |
Dentinogenesis imperfecta
Oral photographs from an individual with Dentinogenesis imperfecta
SpecialtyDentistry
Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of dentin dysplasia that causes teeth to be discolored (most often a blue-gray or yellow-brown co... | Dentinogenesis imperfecta | c0011436 | 3,626 | wikipedia | https://en.wikipedia.org/wiki/Dentinogenesis_imperfecta | 2021-01-18T18:49:33 | {"gard": ["6258"], "mesh": ["D003811"], "umls": ["C0011436"], "icd-9": ["520.5"], "orphanet": ["167762", "49042"], "wikidata": ["Q548984"]} |
A number sign (#) is used with this entry because of evidence that spinal muscular atrophy with congenital bone fractures-1 (SMABF1) is caused by homozygous or compound heterozygous mutation in the TRIP4 gene (604501) on chromosome 15q22.
Description
Spinal muscular atrophy with congenital bone fractures is an ... | SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 | c4225177 | 3,627 | omim | https://www.omim.org/entry/616866 | 2019-09-22T15:47:40 | {"omim": ["616866"], "orphanet": ["486811"], "synonyms": ["SMABF"]} |
A number sign (#) is used with this entry because of evidence that congenital stromal corneal dystrophy (CSCD) is caused by heterozygous mutation in the gene encoding decorin (DCN; 125255) on chromosome 12q21.
Description
Congenital stromal corneal dystrophy (CSCD) is a rare autosomal dominant eye disease character... | CORNEAL DYSTROPHY, CONGENITAL STROMAL | c1864738 | 3,628 | omim | https://www.omim.org/entry/610048 | 2019-09-22T16:05:13 | {"doid": ["0060445"], "mesh": ["C566452"], "omim": ["610048"], "orphanet": ["101068"], "synonyms": ["Alternative titles", "CONGENITAL STROMAL CORNEAL DYSTROPHY"], "genereviews": ["NBK2690"]} |
A number sign (#) is used with this entry because of evidence that lymphatic malformation-6 (LMPHM6) is caused by homozygous or compound heterozygous mutation in the PIEZO1 gene (611184) on chromosome 16q24.
Description
Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characteri... | LYMPHATIC MALFORMATION 6 | c4225184 | 3,629 | omim | https://www.omim.org/entry/616843 | 2019-09-22T15:47:45 | {"omim": ["616843"], "synonyms": ["Alternative titles", "GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU", "LYMPHEDEMA, HEREDITARY, III, FORMERLY"]} |
Overflow incontinence
Other namesischuria paradoxa
CT scan in the sagittal plane which reveals a greatly enlarged urinary bladder caused by urinary retention, a condition which often leads to overflow incontinence.
SpecialtyUrology
Overflow incontinence is a form of urinary incontinence, characterized by t... | Overflow incontinence | c0312413 | 3,630 | wikipedia | https://en.wikipedia.org/wiki/Overflow_incontinence | 2021-01-18T18:49:57 | {"icd-9": ["788.38"], "icd-10": ["N39.4"], "wikidata": ["Q7113655"]} |
Dentinogenesis imperfecta type 3 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by this condition generally have discolored (most often a blue-gray or yellow-brown color) and translucent teeth. Teeth are also weaker than normal, making them pron... | Dentinogenesis imperfecta type 3 | c0399378 | 3,631 | gard | https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3 | 2021-01-18T18:00:55 | {"mesh": ["C538216"], "omim": ["125500"], "umls": ["C0399378"], "orphanet": ["166265"], "synonyms": ["Dentinogenesis imperfecta type III", "Brandywine type dentinogenesis imperfecta", "Dentinogenesis imperfecta Shields type 3 ", "Dentinogenesis imperfecta, Shields type 3"]} |
A number sign (#) is used with this entry because this form of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A7; MDDGA7) is caused by homozygous or compound heterozygous mutation in the ISPD gene (614631) on chromosome 7p21. ISPD encodes an isoprenoid synthase domain-containing p... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | c0265221 | 3,632 | omim | https://www.omim.org/entry/614643 | 2019-09-22T15:54:38 | {"doid": ["0111234"], "mesh": ["D058494"], "omim": ["614643"], "orphanet": ["899"], "synonyms": ["Alternative titles", "WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED"]} |
Visceral larva migrans
SpecialtyInfectious disease
Visceral larva migrans (VLM) is a condition in humans caused by the migratory larvae of certain nematodes, humans being a dead-end host, and was first reported in 1952.[1] Nematodes causing such zoonotic infections are Baylisascaris procyonis,[2] Toxocara cani... | Visceral larva migrans | c0023049 | 3,633 | wikipedia | https://en.wikipedia.org/wiki/Visceral_larva_migrans | 2021-01-18T18:50:30 | {"mesh": ["D007816"], "umls": ["C0023049"], "icd-9": ["128.0"], "icd-10": ["B83.0"], "wikidata": ["Q3288116"]} |
## Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discus... | MYOPIA 8 | c1836505 | 3,634 | omim | https://www.omim.org/entry/609257 | 2019-09-22T16:06:26 | {"mesh": ["C563760"], "omim": ["609257"]} |
## Clinical Features
Marion et al. (1989) observed 7 patients who presented a prematurely aged facial appearance and the following features: intrauterine growth retardation with postnatal growth delay, normal mental development, and decreased subcutaneous fat. The facial appearance included triangular facies, promi... | GRANDDAD SYNDROME | c1841836 | 3,635 | omim | https://www.omim.org/entry/138920 | 2019-09-22T16:40:37 | {"mesh": ["C564211"], "omim": ["138920"], "synonyms": ["Alternative titles", "GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUS FAT, AUTOSOMAL DOMINANT INHERITANCE"]} |
A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium Rickettsia conorii, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches... | Boutonneuse fever | c0006060 | 3,636 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83313 | 2021-01-23T18:40:21 | {"mesh": ["D001907"], "umls": ["C0006060"], "icd-10": ["A77.1"], "synonyms": ["Mediterranean spotted fever"]} |
## Summary
### Clinical characteristics.
GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB).
GM1 gangliosidosis includes phenotypes that range from severe to mild. Type I (infantile) begins before age one year; pr... | GLB1-Related Disorders | None | 3,637 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK164500/ | 2021-01-18T21:24:43 | {"synonyms": []} |
This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
## Epidemiology
So far, 38 cases have been reported.
## Clinical description
Onset occurs in early childhood. Epi... | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | c1970180 | 3,638 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137898 | 2021-01-23T18:15:03 | {"gard": ["12652"], "mesh": ["C567009"], "omim": ["611105"], "umls": ["C1970180"], "icd-10": ["E75.2"], "synonyms": ["LBSL", "Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome"]} |
Pneumaturia
Emphysematous cystitis in computertomography
SpecialtyUrology
Pneumaturia is the passage of gas or "air" in urine. This may be seen or described as "bubbles in the urine".
## Contents
* 1 Causes
* 2 Diagnosis
* 3 References
* 4 External links
## Causes[edit]
A common cause of pneumatu... | Pneumaturia | c0232894 | 3,639 | wikipedia | https://en.wikipedia.org/wiki/Pneumaturia | 2021-01-18T18:31:06 | {"umls": ["C0232894"], "wikidata": ["Q2099998"]} |
A number sign (#) is used with this entry because of evidence that geleophysic dysplasia-2 (GPHYSD2) is caused by heterozygous mutation in exon 41 or 42 of the FBN1 gene (134797) on chromosome 15q21.1.
Acromicric dysplasia (ACMICD; 102370) and the autosomal dominant form of Weill-Marchesani syndrome (608328) are... | GELEOPHYSIC DYSPLASIA 2 | c3489726 | 3,640 | omim | https://www.omim.org/entry/614185 | 2019-09-22T15:56:13 | {"mesh": ["C535662"], "omim": ["614185"], "orphanet": ["2623"], "genereviews": ["NBK11168"]} |
A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.
## Epidemiology
The prevalence is unknown.
## Clinical description
Patients present predominantly with neurological, hepatic and /or cardiomyopathic disease with... | Acyl-CoA dehydrogenase 9 deficiency | c1970173 | 3,641 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99901 | 2021-01-23T18:56:12 | {"mesh": ["C567006"], "omim": ["611126"], "umls": ["C1970173"], "icd-10": ["E71.3"], "synonyms": ["ACAD9 deficiency"]} |
Iminoglycinuria
Other namesFamilial iminoglycinuria[1][2][3]
Imine, a functional group found in imino acids
SpecialtyEndocrinology
Iminoglycinuria, is an autosomal recessive[4] disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproli... | Iminoglycinuria | c0268654 | 3,642 | wikipedia | https://en.wikipedia.org/wiki/Iminoglycinuria | 2021-01-18T19:08:17 | {"gard": ["8424"], "mesh": ["C536285"], "umls": ["C0268654"], "icd-9": ["270.8"], "icd-10": ["E72.0"], "orphanet": ["42062"], "wikidata": ["Q6004091"]} |
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-13 (ATFB13) is caused by heterozygous mutation in the SCN1B gene (600235) on chromosome 19q13.
Description
Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Am... | ATRIAL FIBRILLATION, FAMILIAL, 13 | c3809311 | 3,643 | omim | https://www.omim.org/entry/615377 | 2019-09-22T15:52:24 | {"doid": ["0050650"], "omim": ["615377", "608583"], "orphanet": ["334"], "synonyms": []} |
Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and... | Chromosome 15q duplication | c0795858 | 3,644 | gard | https://rarediseases.info.nih.gov/diseases/5314/chromosome-15q-duplication | 2021-01-18T18:01:24 | {"mesh": ["C538040"], "umls": ["C0795858"], "synonyms": ["Duplication 15q", "Trisomy 15q", "15q duplication", "15q trisomy", "Partial trisomy 15q"]} |
Busch fracture
Fracture of the dorsal base of the distal falange by extensor tendon avulsion (Busch fracture)
SpecialtyOrthopedic
In medicine a Busch fracture[1] is a type of fracture of the base of the distal phalanx of the fingers, produced by the removal of the bone insertion (avulsion) of the extensor te... | Busch fracture | None | 3,645 | wikipedia | https://en.wikipedia.org/wiki/Busch_fracture | 2021-01-18T18:54:30 | {"wikidata": ["Q11922682"]} |
Chan et al. (1984) studied immune response to 2 synthetic polypeptides: (Phe,G)-A--L, a branched copolymer of L-phenylalanine and L-glutamic acid coupled to D-L-alanine on a poly-L-lysine backbone and GAT, a random linear copolymer of glutamic acid, alanine and tyrosine in a ratio of 60:30:10. Among 92 unrelated ... | IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRPHEGAL | c1840268 | 3,646 | omim | https://www.omim.org/entry/146810 | 2019-09-22T16:39:37 | {"omim": ["146810"]} |
## Description
Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009).
Clinical Features
Blount (1937) described 22 cases of bowlegs in inf... | BLOUNT DISEASE, INFANTILE | c0175756 | 3,647 | omim | https://www.omim.org/entry/188700 | 2019-09-22T16:32:32 | {"doid": ["14798"], "mesh": ["C536237"], "omim": ["188700"], "orphanet": ["2768"], "synonyms": ["Alternative titles", "OSTEOCHONDROSIS DEFORMANS TIBIAE, INFANTILE", "TIBIA VARA, INFANTILE"]} |
Substance intoxication
SpecialtyPsychiatry, narcology, addiction medicine
Substance intoxication is a transient condition of altered consciousness and behavior associated with recent use of a substance.[1] It is often maladaptive and impairing, but reversible.[2] If the symptoms are severe, the term "substance... | Substance intoxication | None | 3,648 | wikipedia | https://en.wikipedia.org/wiki/Substance_intoxication | 2021-01-18T18:57:01 | {"icd-9": ["305"], "icd-10": ["F1x.0"], "wikidata": ["Q865968"]} |
Sugarman syndrome
Sugarman syndrome has an autosomal recessive pattern of inheritance.
Sugarman syndrome is the common name of autosomal recessive oral-facial-digital syndrome type III, one of ten distinct genetic disorders that involve developmental defects to the mouth.[1]
Alternative names for this con... | Sugarman syndrome | c0406726 | 3,649 | wikipedia | https://en.wikipedia.org/wiki/Sugarman_syndrome | 2021-01-18T18:40:36 | {"gard": ["10518"], "mesh": ["C557817"], "umls": ["C0406726"], "orphanet": ["2752"], "wikidata": ["Q7635034"]} |
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive ... | Huntington disease-like 1 | c1864112 | 3,650 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157941 | 2021-01-23T19:05:49 | {"mesh": ["C566398"], "omim": ["603218"], "umls": ["C1864112"], "icd-10": ["G10"], "synonyms": ["Early-onset prion disease with prominent psychiatric features", "HDL1"]} |
Halal (1986) described association of severe upper limb hypoplasia and mullerian duct anomalies. One or both were present in 2 males and 3 females in 3 generations. The limb anomalies varied from postaxial polydactyly to ectrodactyly to severe upper limb hypoplasia with split hand. In 1 woman, the mother of the proba... | HYPOMELIA WITH MULLERIAN DUCT ANOMALIES | c1840335 | 3,651 | omim | https://www.omim.org/entry/146160 | 2019-09-22T16:39:45 | {"mesh": ["C537155"], "omim": ["146160"], "orphanet": ["2491"], "synonyms": ["Alternative titles", "LIMB-UTERUS SYNDROME"]} |
DEAF1-related disorders are neurologic diseases that mainly present with intellectual disability, speech impairment and motor developmental delay. Additional features that have being described include seizures, brain malformations, behavioral problems, autism, stomach and/or intestinal problems, and skeletal problems... | DEAF1-associated disorders | c4310683 | 3,652 | gard | https://rarediseases.info.nih.gov/diseases/13474/deaf1-associated-disorders | 2021-01-18T18:00:57 | {"omim": ["617171", "602635"], "orphanet": ["468620"], "synonyms": ["DEAF1 related disorders", "DEAF1 autosomal dominant mutations (subtype)", "DEAF1-associated neurodevelopmental disorder", "DEAF1 mutations", "DEAF1 autosomal recessive mutations (subtype)"]} |
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.
Researchers have identified at least three types of pyruvate... | Pyruvate carboxylase deficiency | c0034341 | 3,653 | medlineplus | https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency/ | 2021-01-27T08:24:59 | {"gard": ["7512"], "mesh": ["D015324"], "omim": ["266150"], "synonyms": []} |
Rare congenital connective tissue disease
Winchester syndrome or Torg-Winchester syndrome
Other namesTorg-Winchester syndrome[1]
Matrix Metalloproteinase 2
Winchester syndrome is a rare congenital connective tissue disease described in 1969,[2] of which the main characteristics are short stature, marked con... | Winchester syndrome | c0432289 | 3,654 | wikipedia | https://en.wikipedia.org/wiki/Winchester_syndrome | 2021-01-18T19:01:32 | {"mesh": ["C536709"], "umls": ["C0432289"], "orphanet": ["85196", "371428", "3460"], "wikidata": ["Q55999489"]} |
Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical... | Pontocerebellar hypoplasia type 10 | c4014347 | 3,655 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411493 | 2021-01-23T17:30:30 | {"omim": ["615803"], "icd-10": ["Q04.3"], "synonyms": ["CLP1-related pontocerebellar hypoplasia", "PCH10"]} |
Orofacial granulomatosis (OFG) is a condition characterized by granulomatous inflammation of regions of the mouth, jaw and face (maxillofacial), in the absence of a recognised systemic condition known to cause granulomas. Features include lip enlargement, swelling inside and around the mouth, oral ulcerations (sores)... | Orofacial Granulomatosis | c0399496 | 3,656 | gard | https://rarediseases.info.nih.gov/diseases/13106/orofacial-granulomatosis | 2021-01-18T17:58:34 | {"mesh": ["D051261"], "synonyms": []} |
Cyberchondria, otherwise known as compucondria, is the unfounded escalation of concerns about common symptomology based on review of search results and literature online.[1][2] Articles in popular media position cyberchondria anywhere from temporary neurotic excess to adjunct hypochondria. Cyberchondria is a growing ... | Cyberchondria | c4552535 | 3,657 | wikipedia | https://en.wikipedia.org/wiki/Cyberchondria | 2021-01-18T18:47:28 | {"wikidata": ["Q933899"]} |
A number sign (#) is used with this entry because of evidence that severe hypertelorism with midface prominence, myopia, mental retardation, and bone fragility can be caused by homozygous mutation in the IRX5 gene (606195) on chromosome 16q11.2.
Clinical Features
Hamamy et al. (2007) described 2 brothers, born to d... | HAMAMY SYNDROME | c1970027 | 3,658 | omim | https://www.omim.org/entry/611174 | 2019-09-22T16:03:31 | {"mesh": ["C566988"], "omim": ["611174"], "orphanet": ["314555"], "synonyms": ["Alternative titles", "HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY"]} |
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long fla... | Diencephalic-mesencephalic junction dysplasia | None | 3,659 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319192 | 2021-01-23T18:38:34 | {"icd-10": ["Q04.8"]} |
A number sign (#) is used with this entry because of evidence that congenital generalized lipodystrophy type 3 (CGL3) is caused by homozygous mutation in the CAV1 gene (601047) on chromosome 7q31. One such family has been reported.
Heterozygous mutation in the CAV1 gene can cause familial partial lipodystrophy-7 (FP... | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 | c0221032 | 3,660 | omim | https://www.omim.org/entry/612526 | 2019-09-22T16:01:18 | {"doid": ["0111137"], "mesh": ["D052497"], "omim": ["612526"], "orphanet": ["528"], "synonyms": ["Alternative titles", "BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3", "LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3"]} |
Puncture wound caused by a bee's stinger
For other uses, see Bee sting (disambiguation).
Bee sting
The stinger of a black honey bee separated from the body and attached to a protective dressing
SpecialtyEmergency medicine
A bee sting is a wound caused by the stinger from a female bee (honey bee, bumblebee,... | Bee sting | c0413120 | 3,661 | wikipedia | https://en.wikipedia.org/wiki/Bee_sting | 2021-01-18T18:52:47 | {"icd-9": ["989.5"], "icd-10": ["T63.4"], "wikidata": ["Q3523834"]} |
## Clinical Features
Dauwerse et al. (2007) described a 35-year-old male of Indonesian descent who presented with short stature and infertility due to azoospermia. Facial features were reminiscent of acrodysostosis (101800) and included a flat face with upward slanting palpebral fissures, depressed nasal bridge... | DAUWERSE-PETERS SYNDROME | c2673203 | 3,662 | omim | https://www.omim.org/entry/611733 | 2019-09-22T16:02:54 | {"mesh": ["C567093"], "omim": ["611733"], "synonyms": ["Alternative titles", "SHORT STATURE, FACIAL DYSMORPHISM, SEVERE BRACHYDACTYLY, AND SYNDACTYLY"]} |
A number sign (#) is used with this entry because of evidence that leukoencephalopathy, brain calcifications, and cysts (LCC) is caused by homozygous or compound heterozygous mutations in the SNORD118 gene (616663) on chromosome 17p13.
Description
Leukoencephalopathy, brain calcifications, and cysts (LCC), also kno... | LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS | c3281200 | 3,663 | omim | https://www.omim.org/entry/614561 | 2019-09-22T15:54:52 | {"mesh": ["C000598644"], "omim": ["614561"], "synonyms": ["Alternative titles", "LABRUNE SYNDROME"]} |
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Find sources: "Prostatorrhea" – news · newspapers · books · scholar · JSTOR (April 2016) (Learn how and when to remove this template message)
This ... | Prostatorrhea | c0392071 | 3,664 | wikipedia | https://en.wikipedia.org/wiki/Prostatorrhea | 2021-01-18T18:34:13 | {"umls": ["C0392071"], "wikidata": ["Q25091637"]} |
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.
*[v]: View this template
*[t]: Discuss this template
*[... | Distal monosomy 7p | None | 3,665 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96126 | 2021-01-23T18:15:29 | {"icd-10": ["Q93.5"], "synonyms": ["Distal deletion 7p", "Monosomy 7pter", "Telomeric deletion 7p"]} |
A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome musculocontractural type 1 (EDSMC1) is caused by homozygous or compound heterozygous mutation in the CHST14 gene (608429) on chromosome 15q14.
Description
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective t... | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 | c1866294 | 3,666 | omim | https://www.omim.org/entry/601776 | 2019-09-22T16:14:21 | {"mesh": ["C000600608"], "omim": ["601776"], "orphanet": ["2953"], "synonyms": ["Dündar syndrome", "ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME", "DUNDAR SYNDROME", "Alternative titles", "EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY", "EDSMC", "mcEDS", "Adducted thumb-clubfoot syndrome", "Ehl... |
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal... | Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome | None | 3,667 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231736 | 2021-01-23T17:26:42 | {"gard": ["10938"], "icd-10": ["Q15.8"], "synonyms": ["MPPC syndrome"]} |
## Clinical Features
Descartes et al. (2009) reported a brother and sister with Stargardt macular degeneration (see STGD; 248200), mental retardation, and dysmorphic features. Facial features included flared eyebrows, upslanted palpebral fissures, prominent ear lobules, broad nasal tip, overcrowded teeth, high-arch... | STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, MENTAL RETARDATION, AND DYSMORPHIC FACIAL FEATURES | c2751864 | 3,668 | omim | https://www.omim.org/entry/612948 | 2019-09-22T16:00:12 | {"mesh": ["C548086"], "omim": ["612948"]} |
## Description
Leptin (LEP; 164160) is a serum protein produced by adipocytes and is thought to play a role in the regulation of body fat. Leptin levels in humans are highly correlated with the individual's total adiposity (Maffei et al., 1995; Considine et al., 1996).
Mapping
Comuzzie et al. (1997) performed a g... | LEPTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 | c1866431 | 3,669 | omim | https://www.omim.org/entry/601694 | 2019-09-22T16:14:25 | {"omim": ["601694"], "synonyms": ["Alternative titles", "LSL"]} |
Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, a... | Familial progressive hyperpigmentation | c1840392 | 3,670 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79146 | 2021-01-23T18:42:31 | {"mesh": ["C564163"], "omim": ["145250", "614233"], "umls": ["C1835039", "C1840392"], "icd-10": ["L81.4"], "synonyms": ["Melanosis diffusa congenita", "Melanosis universalis hereditaria", "Universal melanosis"]} |
Cyclic neutropenia
Other namesPeriodic neutropenia, cyclic leucopenia, cyclic hematopoesis
SpecialtyHematology
SymptomsFever, malaise, inflammation and infection of oral mucosa, respiratory tract, digestive tract, skin, and abdominal pain[1]
Usual onsetInfancy[1]
CausesMutation in ELANE gene[1]
Diagnostic... | Cyclic neutropenia | c0221023 | 3,671 | wikipedia | https://en.wikipedia.org/wiki/Cyclic_neutropenia | 2021-01-18T18:50:39 | {"gard": ["6229"], "mesh": ["C536227"], "umls": ["C0221023"], "orphanet": ["2686"], "wikidata": ["Q5198214"]} |
Aminoacylase 1 deficiency
Other namesNeurological conditions associated with aminoacylase 1 deficiency
Aminoacylase 1 deficiency is inherited in an autosomal recessive manner
Aminoacylase 1 deficiency is a rare inborn error of metabolism. To date only 21 cases have been described.[1][2]
## Contents
*... | Aminoacylase 1 deficiency | c1835922 | 3,672 | wikipedia | https://en.wikipedia.org/wiki/Aminoacylase_1_deficiency | 2021-01-18T18:58:55 | {"gard": ["9741"], "mesh": ["C538246"], "umls": ["C1835922"], "orphanet": ["137754"], "wikidata": ["Q28208917"]} |
Umbilical cord ulceration and intestinal atresia
Other namesUmbilical cord ulcer with intestinal atresia[1]
SpecialtyGastroenterology
Umbilical cord ulceration and intestinal atresia is a rare[1] congenital disease that leads to intestinal atresia, umbilical cord ulceration and severe intrauterine haemor... | Umbilical cord ulceration and intestinal atresia | c2931371 | 3,673 | wikipedia | https://en.wikipedia.org/wiki/Umbilical_cord_ulceration_and_intestinal_atresia | 2021-01-18T18:37:14 | {"gard": ["5403"], "mesh": ["C536938"], "umls": ["C2931371"], "orphanet": ["3405"], "wikidata": ["Q7881317"]} |
A number sign (#) is used with this entry because of evidence that hereditary prostate cancer-1 (HPC1) is caused by heterozygous germline mutation in the gene encoding ribonuclease L (RNASEL; 180435) on chromosome 1q25.
For a general discussion of hereditary prostate cancer, see 176807.
Mapping
Smith et al. (1... | PROSTATE CANCER, HEREDITARY, 1 | c2931456 | 3,674 | omim | https://www.omim.org/entry/601518 | 2019-09-22T16:14:39 | {"doid": ["10283"], "mesh": ["C537243"], "omim": ["601518"], "orphanet": ["1331"], "synonyms": ["Alternative titles", "PRCA1"]} |
Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmati... | Isolated ectopia lentis | c0013581 | 3,675 | gard | https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis | 2021-01-18T17:59:42 | {"mesh": ["D004479"], "omim": ["129600", "225100"], "orphanet": ["1885"], "synonyms": ["Ectopia lentis syndrome", "Familial ectopia lentis"]} |
Balkan endemic nephropathy
Other namesDanubian endemic familial nephropathy
Areas in the Balkans with high prevalence
SpecialtyNephrology
Balkan endemic nephropathy[1] (BEN) is a form of interstitial nephritis causing kidney failure. It was first identified in the 1920s among several small, discrete commun... | Balkan endemic nephropathy | c0004698 | 3,676 | wikipedia | https://en.wikipedia.org/wiki/Balkan_endemic_nephropathy | 2021-01-18T18:50:36 | {"gard": ["8576"], "mesh": ["D001449"], "umls": ["C0004698"], "wikidata": ["Q805030"]} |
Ecthyma gangrenosum
SpecialtyInfectious diseases
Ecthyma gangrenosum is a type of skin lesion characterized by vesicles or blisters which rapidly evolve into pustules and necrotic ulcers with undermined tender erythematous border. "Ecthyma" means a pus forming infection of the skin with an ulcer, "gangreno... | Ecthyma gangrenosum | c0276085 | 3,677 | wikipedia | https://en.wikipedia.org/wiki/Ecthyma_gangrenosum | 2021-01-18T18:28:18 | {"umls": ["C0276085"], "wikidata": ["Q5333982"]} |
Anuria
Other namesAnuresis
SpecialtyNephrology
Anuria is nonpassage of urine,[1] in practice is defined as passage of less than 100[2] milliliters of urine in a day.[3] Anuria is often caused by failure in the function of kidneys. It may also occur because of some severe obstruction like kidney stones or... | Anuria | c0003460 | 3,678 | wikipedia | https://en.wikipedia.org/wiki/Anuria | 2021-01-18T18:29:56 | {"mesh": ["D001002"], "umls": ["C0003460"], "icd-9": ["788.5"], "icd-10": ["R33"], "wikidata": ["Q612681"]} |
Neutropenic enterocolitis
Other namesTyphlitis, typhlenteritis, caecitis, cecitis
SpecialtyGeneral surgery
Neutropenic enterocolitis is inflammation of the cecum (part of the large intestine) that may be associated with infection.[1] It is particularly associated with neutropenia, a low level of neutroph... | Neutropenic enterocolitis | c0267537 | 3,679 | wikipedia | https://en.wikipedia.org/wiki/Neutropenic_enterocolitis | 2021-01-18T19:07:51 | {"mesh": ["D053706"], "umls": ["C0267537"], "icd-9": ["540.0", "541", "540.9"], "wikidata": ["Q462339"]} |
The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).
## Epidemiology
PMD has an estimated prevalence of 1/400,000. The transitional form accounts for about 15% of all cases of PMD. It predominantly affects males.
## Clinical description
The predominant c... | Pelizaeus-Merzbacher disease, transitional form | c0751917 | 3,680 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280224 | 2021-01-23T17:25:05 | {"mesh": ["D020371"], "umls": ["C0751917"], "icd-10": ["E75.2"], "synonyms": ["Transitional PMD"]} |
Neuroblastoma
Microscopic view of a typical neuroblastoma with rosette formation
SpecialtyOncology
SymptomsBone pain, lumps[1]
Usual onsetUnder 5 years old[1]
CausesGenetic mutation[1]
Diagnostic methodTissue biopsy[1]
TreatmentObservation, surgery, radiation, chemotherapy, stem cell transplantation[1] ... | Neuroblastoma | c0027819 | 3,681 | wikipedia | https://en.wikipedia.org/wiki/Neuroblastoma | 2021-01-18T18:56:45 | {"gard": ["7185"], "mesh": ["D009447"], "umls": ["C0027819"], "icd-9": ["194.0"], "orphanet": ["635"], "wikidata": ["Q938205"]} |
Pustular psoriasis is a rare form of psoriasis that is characterized by widespread pustules and reddish skin. This condition can occur alone or with plaque-type psoriasis. Most cases of pustular psoriasis are thought to be "multifactorial" or associated with the effects of multiple genes in combination with lifes... | Pustular psoriasis | c0152081 | 3,682 | gard | https://rarediseases.info.nih.gov/diseases/12813/pustular-psoriasis | 2021-01-18T17:58:02 | {"synonyms": []} |
Asymmetry in the pigmentation of the irides probably occurs as an isolated phenomenon inherited as a dominant (Calhoun, 1919). Whether hereditary heterochromia iridis ever exists independent of Horner syndrome (143000), Waardenburg syndrome (193500), or the piebald trait (172800) is not clear. The melanocytes of the ... | HETEROCHROMIA IRIDIS | c0423318 | 3,683 | omim | https://www.omim.org/entry/142500 | 2019-09-22T16:40:17 | {"mesh": ["C538115"], "omim": ["142500"]} |
This article is about the disease. For information about the medieval plague, see Black Death.
Human and animal disease
Bubonic plague
A bubo on the upper thigh of a person infected with bubonic plague
SpecialtyInfectious disease
SymptomsFever, headaches, vomiting, swollen lymph nodes[1][2]
Usual onset1–7 d... | Bubonic plague | c0282312 | 3,684 | wikipedia | https://en.wikipedia.org/wiki/Bubonic_plague | 2021-01-18T18:35:00 | {"gard": ["183"], "mesh": ["D010930"], "umls": ["C0282312"], "icd-10": ["020.0"], "wikidata": ["Q217519"]} |
Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and locatio... | Chromosome 4q deletion | c0265404 | 3,685 | gard | https://rarediseases.info.nih.gov/diseases/1340/chromosome-4q-deletion | 2021-01-18T18:01:21 | {"mesh": ["C537639"], "synonyms": ["Deletion 4q", "Monosomy 4q", "4q deletion", "4q monosomy", "Partial monosomy 4q"]} |
Ectoparasitic infestation
SpecialtyInfectious disease
An ectoparasitic infestation is a parasitic disease caused by organisms that live primarily on the surface of the host.
Examples:
* Scabies
* Crab louse (pubic lice)
* Pediculosis (head lice)[1]
* Lernaeocera branchialis (cod worm)
## See also[ed... | Ectoparasitic infestation | c0013578 | 3,686 | wikipedia | https://en.wikipedia.org/wiki/Ectoparasitic_infestation | 2021-01-18T18:57:44 | {"mesh": ["D004478"], "umls": ["C0013578"], "icd-9": ["134", "132"], "icd-10": ["B89", "B85"], "wikidata": ["Q5334259"]} |
PACS1 syndrome is a condition in which all affected individuals have intellectual disability, speech and language problems, and a distinct facial appearance. Many affected individuals have additional neurological, behavioral, and health problems.
In PACS1 syndrome, intellectual disability typically ranges from m... | PACS1 syndrome | c3554343 | 3,687 | medlineplus | https://medlineplus.gov/genetics/condition/pacs1-syndrome/ | 2021-01-27T08:25:02 | {"gard": ["13043"], "omim": ["615009"], "synonyms": []} |
A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.
## Epidemiology
3-hydroxy-3-methylglutaric aciduria (3HMG) occurs in all ethnic groups. The conditions... | 3-hydroxy-3-methylglutaric aciduria | c0268601 | 3,688 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=20 | 2021-01-23T19:09:32 | {"gard": ["8387"], "mesh": ["C538324"], "omim": ["246450"], "umls": ["C0268601", "C1533587"], "icd-10": ["E71.1"], "synonyms": ["3-hydroxy-3-methylglutaryl-CoA lyase deficiency", "HMG-CoA lyase deficiency", "Hydroxymethylglutaric aciduria"]} |
Juvenile polyposis syndrome (JPS) is a disorder characterized by having a susceptibility to developing hamartomatous polyps in the gastrointestinal (GI) tract. A hamartomatous polyp is a benign (noncancerous) tumor-like malformation made up of an abnormal mixture of cells and tissues. In JPS, these polyps can occur i... | Juvenile polyposis syndrome | c0345893 | 3,689 | gard | https://rarediseases.info.nih.gov/diseases/3065/juvenile-polyposis-syndrome | 2021-01-18T17:59:39 | {"mesh": ["C537702"], "omim": ["174900"], "umls": ["C0345893"], "orphanet": ["2929"], "synonyms": ["JPS", "Polyposis juvenile intestinal", "PJI", "Juvenile intestinal polyposis", "JIP", "Polyposis familial of entire gastrointestinal tract"]} |
"MdDS" redirects here. For other uses, see MDDS.
Mal de debarquement
Other namesIllness of disembarkment[1]
Mal de debarquement (or mal de débarquement) syndrome (MdDS, or common name disembarkment syndrome) is a neurological condition usually occurring after a cruise, aircraft flight, or other sustained moti... | Mal de debarquement | c1608983 | 3,690 | wikipedia | https://en.wikipedia.org/wiki/Mal_de_debarquement | 2021-01-18T18:49:12 | {"gard": ["6959"], "mesh": ["C537840"], "umls": ["C1608983"], "orphanet": ["210272"], "wikidata": ["Q3480741"]} |
Focal segmental glomerulosclerosis (FSGS) is a type of kidney disorder. It is characterized by scar tissue that forms in some of the glomeruli in the kidney. FSGS may cause non-specific signs and symptoms, including protein in the urine, elevated levels of creatinine, and swelling. In many cases the cause of FSGS... | Focal segmental glomerulosclerosis | c0017668 | 3,691 | gard | https://rarediseases.info.nih.gov/diseases/6517/focal-segmental-glomerulosclerosis | 2021-01-18T18:00:27 | {"mesh": ["D005923"], "synonyms": ["FSGS", "Glomerulosclerosis, focal", "Segmental glomerulosclerosis", "Focal sclerosis with hyalinosis", "Familial idiopathic nephrotic syndrome", "Familial idiopathic steroid-resistant nephrotic syndrome"]} |
The disorder seems to begin rarely in early infancy. However, the paucity of myelin in the cerebral hemispheres during the first 4 to 6 months of life would make histopathologic classification on the basis of myelin breakdown difficult at this stage. Progression is usually subacute in pace. Cortical blindness is ofte... | SUDANOPHILIC CEREBRAL SCLEROSIS | c0007795 | 3,692 | omim | https://www.omim.org/entry/272100 | 2019-09-22T16:21:59 | {"mesh": ["D002549"], "omim": ["272100"], "icd-9": ["341.1"], "icd-10": ["G37.0"], "orphanet": ["59298"], "synonyms": ["Alternative titles", "SCHILDER DISEASE"]} |
A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.... | Spastic ataxia-dysarthria due to glutaminase deficiency | None | 3,693 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=557056 | 2021-01-23T17:03:01 | {"icd-10": ["G11.1"]} |
A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence... | Short rib-polydactyly syndrome, Verma-Naumoff type | c0432197 | 3,694 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93271 | 2021-01-23T17:07:15 | {"gard": ["4835"], "mesh": ["C537602"], "omim": ["613091", "614091", "615503", "615633"], "umls": ["C0432197"], "icd-10": ["Q77.2"], "synonyms": ["Short rib-polydactyly syndrome type 3"]} |
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. (February 2014) (Learn how and when to remove this template message)
Steroid diabetes
Othe... | Steroid diabetes | c0342269 | 3,695 | wikipedia | https://en.wikipedia.org/wiki/Steroid_diabetes | 2021-01-18T19:07:13 | {"umls": ["C0342269"], "wikidata": ["Q7611608"]} |
Type of medical trauma
This article is written like a manual or guidebook. Please help rewrite this article from a descriptive, neutral point of view, and remove advice or instruction. (March 2018) (Learn how and when to remove this template message)
Worker hanging strapped into a safety harness during a fall r... | Suspension trauma | None | 3,696 | wikipedia | https://en.wikipedia.org/wiki/Suspension_trauma | 2021-01-18T19:02:46 | {"wikidata": ["Q1642307"]} |
Malpuech facial clefting syndrome
SpecialtyMedical genetics
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome,[1] is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a clef... | Malpuech facial clefting syndrome | c0796032 | 3,697 | wikipedia | https://en.wikipedia.org/wiki/Malpuech_facial_clefting_syndrome | 2021-01-18T18:44:34 | {"mesh": ["C535704"], "icd-9": ["759.7"], "icd-10": ["Q89.8"], "orphanet": ["2453"], "wikidata": ["Q6744609"]} |
Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it m... | Deafness and myopia syndrome | c3806275 | 3,698 | medlineplus | https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome/ | 2021-01-27T08:25:37 | {"gard": ["12844"], "omim": ["221200"], "synonyms": []} |
Wide-based "drunken sailor" gait symptom
Main article: Ataxia
Truncal ataxia
Other namesTrunk ataxia, Ataxic gait[1]
Caused by midline damage to the cerebellar vermis
SpecialtyNeurology
Symptoms"drunken sailor" gait characterised by uncertain starts and stops, falling
CausesSpinocerebellar Ataxia (Lesion ... | Truncal ataxia | c0427190 | 3,699 | wikipedia | https://en.wikipedia.org/wiki/Truncal_ataxia | 2021-01-18T18:49:48 | {"mesh": ["D001259"], "umls": ["C0427190"], "wikidata": ["Q65083605"]} |
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