text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
values | source_url stringlengths 33 155 | retrieved_date timestamp[s] | classification_map stringlengths 2 1.45k |
|---|---|---|---|---|---|---|---|
Spermatogenesis arrest is known as the interruption of germinal cells of specific cellular type, which elicits an altered spermatozoa formation. Spermatogenic arrest is usually due to genetic factors resulting in irreversible azoospermia. However some cases may be consecutive to hormonal, thermic, or toxic factors an... | Spermatogenesis arrest | c0232981 | 29,900 | wikipedia | https://en.wikipedia.org/wiki/Spermatogenesis_arrest | 2021-01-18T19:08:36 | {"gard": ["8530"], "mesh": ["C536875"], "umls": ["C0232981"], "wikidata": ["Q7576389"]} |
Acral nevus
Other namesMelanocytic nevus of acral skin,[1] and Melanocytic nevus with intraepidermal ascent of cells[1]
Acral nevus
SpecialtyDermatology
An acral nevus is a cutaneous condition characterized by a skin lesion that is usually macular or only slightly elevated, and may display uniform brown or... | Acral nevus | c1879545 | 29,901 | wikipedia | https://en.wikipedia.org/wiki/Acral_nevus | 2021-01-18T18:56:32 | {"umls": ["C1879545"], "wikidata": ["Q4675040"]} |
The presbylarynx is a condition in which age-related atrophy of the soft tissues of the larynx results in weak voice and restricted vocal range and stamina. In other words, it is the loss of vocal fold tone and elasticity due to aging which affects voice quality.
## Contents
* 1 Symptoms
* 2 Treatment
* 3... | Presbylarynx | c4049459 | 29,902 | wikipedia | https://en.wikipedia.org/wiki/Presbylarynx | 2021-01-18T18:28:11 | {"wikidata": ["Q7240713"]} |
## Clinical Features
Wiedemann et al. (1993) described a well-studied patient followed from infancy to age 19 years. He was born to a 34-year-old mother and an unrelated 37-year-old father. Features of the syndrome from which the patient suffered included extraordinary hirsutism, marked brachycephaly, abnormal posi... | HIRSUTISM, SKELETAL DYSPLASIA, AND MENTAL RETARDATION | c3149452 | 29,903 | omim | https://www.omim.org/entry/142625 | 2019-09-22T16:40:11 | {"omim": ["142625"]} |
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated w... | Phosphoenolpyruvate carboxykinase deficiency | c0268194 | 29,904 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2880 | 2021-01-23T17:15:39 | {"mesh": ["C536654"], "omim": ["261650", "261680"], "umls": ["C0268194"], "icd-10": ["E74.4"], "synonyms": ["PEPCK deficiency"]} |
A number sign (#) is used with this entry because this form of Zellweger syndrome (PBD2A) is caused by homozygous mutation in the PEX5 gene (600414) on chromosome 12p13.
Description
The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affec... | PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | c0043459 | 29,905 | omim | https://www.omim.org/entry/214110 | 2019-09-22T16:29:48 | {"doid": ["0080477"], "mesh": ["D015211"], "omim": ["214110"], "orphanet": ["912"]} |
A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.
## Epidemiology
Mounier-Kühn syndrome is a rare underdiagnosed condition of unknown prevalence. About 300 ... | Mounier-Kühn syndrome | c0040587 | 29,906 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3347 | 2021-01-23T18:15:38 | {"gard": ["3793", "5234"], "mesh": ["D014137"], "omim": ["275300"], "umls": ["C0040587", "C2713583"], "icd-10": ["J98.0"], "synonyms": ["Congenital tracheobronchomegaly", "Idiopathic tracheobronchomegaly", "Tracheobronchomegaly"]} |
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
*[v]: View this template
*[t]: Discuss this t... | Jackson-Weiss syndrome | c0795998 | 29,907 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1540 | 2021-01-23T18:34:14 | {"gard": ["6796"], "mesh": ["C537559"], "omim": ["123150"], "umls": ["C0795998"], "icd-10": ["Q87.8"], "synonyms": ["Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome", "JWS"]} |
See also: Segmental colitis associated with diverticulosis
Diverticulosis
Other namesDiverticular disease of the colon
Diverticulosis as seen endoscopically
SpecialtyGeneral surgery
Diverticulosis is the condition of having multiple pouches (diverticula) in the colon that are not inflamed. These are outpo... | Diverticulosis | c0012819 | 29,908 | wikipedia | https://en.wikipedia.org/wiki/Diverticulosis | 2021-01-18T18:49:59 | {"mesh": ["D043963"], "icd-9": ["562.00"], "icd-10": ["K57"], "wikidata": ["Q278158"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Otitis" – news · newspapers · books · scholar · JSTOR (September 2014) (Learn how and when to remove this template message)
Otit... | Otitis | c0699744 | 29,909 | wikipedia | https://en.wikipedia.org/wiki/Otitis | 2021-01-18T18:46:57 | {"mesh": ["D010031"], "umls": ["C0699744"], "icd-9": ["380.10"], "wikidata": ["Q480700"]} |
Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.
## Epidemiology
They are predominantly found in adults, and comprise 0.2% of all central nervous system tumors and 2-4% of all primary bone neoplasms, with an estimated prevalence of 1 in 2 million people and... | Chordoma | c0008487 | 29,910 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178 | 2021-01-23T17:56:32 | {"gard": ["1303"], "mesh": ["D002817"], "omim": ["215400"], "umls": ["C0008487"], "icd-10": ["C76.7"], "synonyms": ["Notochordal sarcoma"]} |
This article is about horizontal overlap between upper and lower teeth. For vertical overlap, see Overbite.
Overjet
Overjet or horizontal overlap.
SpecialtyDentistry
Overjet is the extent of horizontal (anterior-posterior) overlap of the maxillary central incisors over the mandibular central incisors. In cl... | Overjet | c0596028 | 29,911 | wikipedia | https://en.wikipedia.org/wiki/Overjet | 2021-01-18T18:38:43 | {"mesh": ["D057887"], "icd-9": ["524.26"], "icd-10": ["K07.2"], "wikidata": ["Q7113715"]} |
Hemeralopia
SpecialtyOphthalmology
Hemeralopia (from Greek ημέρα hemera, "day", and αλαός alaos, "blindness") is the inability to see clearly in bright light and is the exact opposite of nyctalopia (night blindness), the inability to see clearly in low light. Hemera was the Greek goddess of day, and Nyx wa... | Hemeralopia | c0018975 | 29,912 | wikipedia | https://en.wikipedia.org/wiki/Hemeralopia | 2021-01-18T18:39:53 | {"mesh": ["D014786"], "icd-9": ["368.6"], "icd-10": ["H53.1"], "wikidata": ["Q7757581"]} |
Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.
## Epidemiology
The prevalence is unknown. Approximately 117 cases have... | Ulnar-mammary syndrome | c1866994 | 29,913 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3138 | 2021-01-23T18:10:07 | {"gard": ["118"], "mesh": ["C536937"], "omim": ["181450"], "umls": ["C1866994"], "icd-10": ["Q71.8"], "synonyms": ["Pallister ulnar-mammary syndrome", "Schinzel syndrome", "UMS"]} |
Paraneoplastic Pemphigus
SpecialtyDermatology
Paraneoplastic pemphigus (PNP) is an autoimmune disorder stemming from an underlying tumor. It is hypothesized that antigens associated with the tumor trigger an immune response resulting in blistering of the skin and mucous membranes.
While patients with malignan... | Paraneoplastic pemphigus | c1112570 | 29,914 | wikipedia | https://en.wikipedia.org/wiki/Paraneoplastic_pemphigus | 2021-01-18T19:01:19 | {"umls": ["C1112570"], "icd-10": ["L10.8"], "orphanet": ["63455"], "wikidata": ["Q3899003"]} |
A number sign (#) is used with this entry because of evidence that orofacial cleft-15 (OFC15) is caused by mutation in the DLX4 gene (601911) on chromosome 17q21. One such family has been reported.
For a discussion of genetic heterogeneity of nonsyndromic cleft/lip palate (CL/P), see OFC1 (119530).
Clinical Fea... | OROFACIAL CLEFT 15 | c0158646 | 29,915 | omim | https://www.omim.org/entry/616788 | 2019-09-22T15:47:54 | {"doid": ["0080408"], "omim": ["616788"], "orphanet": ["199306"]} |
A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
## Epidemiology
The birth prevalence in Europe is estimated at 1/50,000-1/30,000. The introduction of neonatal screening programs based on tandem mass ... | 3-methylcrotonyl-CoA carboxylase deficiency | c0268600 | 29,916 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=6 | 2021-01-23T19:09:27 | {"gard": ["10954"], "mesh": ["C535308"], "omim": ["210200", "210210"], "umls": ["C0268600"], "icd-10": ["E71.1"], "synonyms": ["3-methylcrotonylglycinuria", "MCC deficiency", "MCCD"]} |
17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, ... | 17-beta hydroxysteroid dehydrogenase 3 deficiency | c0268296 | 29,917 | gard | https://rarediseases.info.nih.gov/diseases/5659/17-beta-hydroxysteroid-dehydrogenase-3-deficiency | 2021-01-18T18:02:26 | {"mesh": ["C537805"], "omim": ["264300"], "umls": ["C0268296"], "orphanet": ["752"], "synonyms": ["17 alpha ketosteroid reductase deficiency of testis", "17 alpha KSR deficiency", "Neutral 17 beta hydroxysteroid oxidoreductase deficiency", "Male pseudoherma-phroditism with gynecomastia", "17 beta hydroxysteroid dehydro... |
A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hyp... | Undetermined early-onset epileptic encephalopathy | c4538788 | 29,918 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=442835 | 2021-01-23T17:46:23 | {"omim": ["301008", "614558", "615476", "615833", "615871", "615905", "616056", "616211", "616339", "616346", "616366", "616409", "617020", "617105", "617106", "617132", "617153", "617162", "617166", "617829", "617830", "617831", "617836", "617854", "617938", "618008", "618012", "618201", "618396", "618437", "618468", ... |
Lethal congenital contracture syndrome
Lethal congenital contracture syndrome has an autosomal recessive pattern of inheritance.
Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish type,[1] is an autosomal recessive genetic disorder characterized by total immobi... | Lethal congenital contracture syndrome | c1854664 | 29,919 | wikipedia | https://en.wikipedia.org/wiki/Lethal_congenital_contracture_syndrome | 2021-01-18T18:48:24 | {"gard": ["3227"], "mesh": ["C537194"], "umls": ["C1854664"], "orphanet": ["1486"], "wikidata": ["Q6533262"]} |
Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. This syndrome can cause a variety of additional signs and sympt... | Autoimmune polyglandular syndrome type 1 | c0085859 | 29,920 | gard | https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1 | 2021-01-18T18:01:58 | {"mesh": ["D016884"], "omim": ["240300"], "umls": ["C0085859"], "orphanet": ["3453"], "synonyms": ["APS 1", "Autoimmune polyendocrine syndrome type 1", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis", "Autoimmune polyend... |
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal defo... | Spondyloepimetaphyseal dysplasia with multiple dislocations | c1863732 | 29,921 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93360 | 2021-01-23T17:14:41 | {"gard": ["9866"], "mesh": ["C535784"], "omim": ["603546"], "umls": ["C1863732"], "icd-10": ["Q77.7"], "synonyms": ["SEMD-MD", "SEMDJL2", "Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type", "Spondyloepimetaphyseal dysplasia with joint laxity type 2", "Spondyloepimetaphyseal dysplasia with joint laxity, l... |
## Summary
### Clinical characteristics.
Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including intramuscular vaccinations. Painful, recurrent soft-tissue ... | Fibrodysplasia Ossificans Progressiva | c0016037 | 29,922 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK558090/ | 2021-01-18T21:25:58 | {"mesh": ["D009221"], "synonyms": ["Myositis Ossificans Progressiva", "Progressive Ossifying Myositis"]} |
Response to a terrifying, traumatic, or surprising experience
This article is about the psychological condition sometimes called shock. For the circulatory condition, see Shock (circulatory).
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to re... | Acute stress disorder | c0029488 | 29,923 | wikipedia | https://en.wikipedia.org/wiki/Acute_stress_disorder | 2021-01-18T18:44:11 | {"mesh": ["D040701"], "umls": ["C0029488"], "icd-10": ["F43.0"], "wikidata": ["Q424221"]} |
White coat hypertension
Other namesWhite coat syndrome
A white coat and scrubs
White coat hypertension (WHT), more commonly known as white coat syndrome, is a form of labile hypertension[1] in which people exhibit a blood pressure level above the normal range, in a clinical setting, although they do not ... | White coat hypertension | c0262534 | 29,924 | wikipedia | https://en.wikipedia.org/wiki/White_coat_hypertension | 2021-01-18T18:36:03 | {"mesh": ["D059466"], "umls": ["C0262534"], "wikidata": ["Q1777563"]} |
Brachymetatarsia
Other namesHypoplastic metatarsal
X-ray of congenital brachymetatarsia involving fourth metatarsal bone
SpecialtyMedical genetics, rheumatology
Brachymetatarsia is a condition in which there is one or more abnormally short or overlapping toe bones (metatarsals).[1] This condition may r... | Brachymetatarsia | c0265650 | 29,925 | wikipedia | https://en.wikipedia.org/wiki/Brachymetatarsia | 2021-01-18T19:07:17 | {"icd-10": ["M21.6", "Q72.8"], "wikidata": ["Q2923350"]} |
A number sign (#) is used with this entry because of evidence that aniridia-3 (AN3) is caused by heterozygous mutation in the TRIM44 gene (612298) on chromosome 11p13. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of aniridia, see AN1 (106210).
Cli... | ANIRIDIA 3 | c0003076 | 29,926 | omim | https://www.omim.org/entry/617142 | 2019-09-22T15:46:42 | {"mesh": ["D015783"], "omim": ["617142"], "orphanet": ["250923"]} |
Waxy skin
SpecialtyDermatology
Waxy skin is a cutaneous condition observed in roughly 50% of diabetic patients with longstanding disease.[1]:540
## See also[edit]
* Diabetic dermadromes
* Limited joint mobility
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (20... | Waxy skin | None | 29,927 | wikipedia | https://en.wikipedia.org/wiki/Waxy_skin | 2021-01-18T18:42:21 | {"wikidata": ["Q7975738"]} |
## Clinical Features
Neuhauser et al. (1976) described tremor, nystagmus, and duodenal ulcer in multiple persons in a kindred. Essential tremor developed in 12 of 17 affected members. Alcohol controlled the tremor temporarily. Severely affected members became alcoholics. The most severely affected persons showe... | TREMOR, NYSTAGMUS, AND DUODENAL ULCER | c1860860 | 29,928 | omim | https://www.omim.org/entry/190310 | 2019-09-22T16:32:26 | {"mesh": ["C536406"], "omim": ["190310"], "orphanet": ["3350"]} |
Water–electrolyte imbalance
Diagram of ion concentrations and charge across a semi-permeable cellular membrane.
SpecialtyNephrology
Electrolyte imbalance, or water-electrolyte imbalance, is an abnormality in the concentration of electrolytes in the body. Electrolytes play a vital role in maintaining homeosta... | Electrolyte imbalance | c0043065 | 29,929 | wikipedia | https://en.wikipedia.org/wiki/Electrolyte_imbalance | 2021-01-18T18:32:51 | {"mesh": ["D014883"], "icd-9": ["276"], "icd-10": ["E87", "E86"], "wikidata": ["Q1326943"]} |
Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.
## Epidemiology
The prevalence in Europe is estimated at about 1/1,000,000.
## Clinical description
The disease manif... | Hereditary coproporphyria | c0162531 | 29,930 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79273 | 2021-01-23T18:02:45 | {"gard": ["6619"], "mesh": ["D046349"], "omim": ["121300"], "umls": ["C0162531"], "icd-10": ["E80.2"]} |
## Description
Thymomas are low-grade epithelial cancers of the thymus. Familial occurrence of thymoma is rare.
Clinical Features
Matani and Dristsas (1973) reported a Greek sibship of 3, demonstrating familial occurrence of thymoma. One of the 3 sibs, a 2-year-old girl, died of respiratory insufficiency resultin... | THYMOMA, FAMILIAL | c0040100 | 29,931 | omim | https://www.omim.org/entry/274230 | 2019-09-22T16:21:42 | {"mesh": ["D013945"], "omim": ["274230"], "orphanet": ["99867"], "synonyms": ["Alternative titles", "THYMIC NEOPLASIA"]} |
A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalan... | Kabuki syndrome | c0796004 | 29,932 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2322 | 2021-01-23T18:38:30 | {"gard": ["6810"], "mesh": ["C537705"], "omim": ["147920", "300867"], "umls": ["C0796004"], "icd-10": ["Q87.0"], "synonyms": ["Kabuki make-up syndrome", "Niikawa-Kuroki syndrome"]} |
Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.
## Epidemiology
The prevalence is unknown. Fewer than 100 patients have been described worldwide to date.
## Clinical descri... | Rapid-onset dystonia-parkinsonism | c1868681 | 29,933 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71517 | 2021-01-23T17:55:28 | {"gard": ["9628"], "mesh": ["C538001"], "omim": ["128235"], "umls": ["C1868681"], "icd-10": ["G24.1"], "synonyms": ["DYT12", "Dystonia 12"]} |
Large for gestational age
Other namesMacrosomia
LGA: A healthy 11-pound (5.0 kg) newborn child, delivered vaginally without complications (41 weeks; fourth child; no gestational diabetes)
SpecialtyObstetrics, pediatrics
Large for gestational age (LGA) describes full-term or post-term infants that are born ... | Large for gestational age | c0015938 | 29,934 | wikipedia | https://en.wikipedia.org/wiki/Large_for_gestational_age | 2021-01-18T18:42:19 | {"gard": ["10155"], "mesh": ["D005320"], "icd-9": ["656.6", "766"], "icd-10": ["O36.6", "P08"], "wikidata": ["Q1886514"]} |
Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
## Epidemiology
RXLI affects almost exclusively males. It is the second most common type of ichthyosis with an estimated... | Recessive X-linked ichthyosis | c0079588 | 29,935 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=461 | 2021-01-23T17:20:33 | {"gard": ["7904"], "mesh": ["D016114"], "omim": ["300001", "308100"], "umls": ["C0079588", "C2717836", "C2720163"], "icd-10": ["Q80.1"], "synonyms": ["RXLI", "Steroid sulfatase deficiency", "X-linked ichthyosis", "XLI"]} |
## Summary
### Clinical characteristics.
Individuals with ETV6 thrombocytopenia and predisposition to leukemia most often present with a lifelong history of thrombocytopenia, which is usually in the mild to moderate range. No syndromic features or associations are consistently shared across pedigrees. Affected indi... | ETV6 Thrombocytopenia and Predisposition to Leukemia | None | 29,936 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK564234/ | 2021-01-18T21:28:53 | {"synonyms": ["ETV6-Linked Leukemia / Familial Thrombocytopenia Syndrome", "Thrombocytopenia 5 (THC5)"]} |
Argininemia
Other namesArginase deficiency[1]
Arginine
SpecialtyNeurology, medical genetics, endocrinology
SymptomsLethargy, Dehydration[2][3]
CausesMutations in the ARG1 gene[4][5]
Diagnostic methodUrinary orotic acid concentration[2]
TreatmentProtein intake limited, Sodium benzoate[3]
Argininemia... | Argininemia | c0268548 | 29,937 | wikipedia | https://en.wikipedia.org/wiki/Argininemia | 2021-01-18T18:36:28 | {"gard": ["5840"], "mesh": ["D020162"], "umls": ["C0268548"], "orphanet": ["90"], "wikidata": ["Q890367"]} |
Ependymoma
Micrograph of an ependymoma. H&E stain.
SpecialtyOncology
An ependymoma is a tumor that arises from the ependyma, a tissue of the central nervous system. Usually, in pediatric cases the location is intracranial, while in adults it is spinal. The common location of intracranial ependymomas is t... | Ependymoma | c0014474 | 29,938 | wikipedia | https://en.wikipedia.org/wiki/Ependymoma | 2021-01-18T18:41:10 | {"gard": ["6353"], "mesh": ["D004806"], "icd-9": ["191.9", "225.0", "237.5"], "icd-10": ["C71"], "orphanet": ["251636"], "wikidata": ["Q1346753"]} |
Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic... | Hartnup disease | c0018609 | 29,939 | gard | https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease | 2021-01-18T18:00:09 | {"mesh": ["D006250"], "omim": ["234500"], "umls": ["C0018609"], "orphanet": ["2116"], "synonyms": ["HND", "Hartnup disorder"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-52 (MRT52) is caused by homozygous mutation in the LMAN2L gene (609552) on chromosome 2q11. One such family has been reported.
Clinical Features
Rafiullah et al. (2016) reported a large multigenerational consan... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 | c4225168 | 29,940 | omim | https://www.omim.org/entry/616887 | 2019-09-22T15:47:32 | {"omim": ["616887"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, t... | Branchiooculofacial syndrome | c0376524 | 29,941 | gard | https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome | 2021-01-18T18:01:42 | {"mesh": ["D019280"], "omim": ["113620"], "umls": ["C0376524"], "orphanet": ["1297"], "synonyms": ["BOFS syndrome", "Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging", "Hemangiomatous branchial clefts-lip pseudocleft syndrome", "Lip pseudocleft-hemangiomat... |
A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and p... | Autosomal dominant Kenny-Caffey syndrome | c4316787 | 29,942 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93325 | 2021-01-23T17:05:27 | {"gard": ["83"], "mesh": ["C537020"], "omim": ["127000"], "icd-10": ["Q87.1"]} |
A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include ... | Exercise-induced malignant hyperthermia | c4544037 | 29,943 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466650 | 2021-01-23T18:33:44 | {"icd-10": ["T88.3"], "synonyms": ["Exertional heat stroke"]} |
A number sign (#) is used with this entry because of evidence that developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) is caused by homozygous mutation in the DPH1 gene (603527) on chromosome 17p13.
Clinical Features
Alazami et al. (2015) reported 4 patients from a consangui... | DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR | c4310801 | 29,944 | omim | https://www.omim.org/entry/616901 | 2019-09-22T15:47:30 | {"omim": ["616901"], "orphanet": ["459061"], "synonyms": ["Alternative titles", "Developmental delay-short stature-dysmorphic features-sparse hair syndrome", "LOUCKS-INNES SYNDROME"]} |
Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with o... | Mast cell sarcoma | c0036221 | 29,945 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=66661 | 2021-01-23T18:02:05 | {"mesh": ["D012515"], "umls": ["C0036221"], "icd-10": ["C96.2"]} |
Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the ve... | Schwannomatosis | c0917817 | 29,946 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93921 | 2021-01-23T18:13:53 | {"gard": ["4768"], "mesh": ["C536641", "D017253"], "omim": ["162091", "162260", "615670"], "umls": ["C0917817", "C1335929", "C2931480"], "icd-10": ["Q85.0"], "synonyms": ["NF3", "Neurilemmomatosis", "Neurofibromatosis type 3"]} |
Retrolisthesis
Grade 1 retrolistheses of C3 on C4 and C4 on C5
SpecialtyOrthopedics
A retrolisthesis is a posterior displacement of one vertebral body with respect to the subjacent vertebra to a degree less than a luxation (dislocation). Retrolistheses are most easily diagnosed on lateral x-ray views of the ... | Retrolisthesis | c1562792 | 29,947 | wikipedia | https://en.wikipedia.org/wiki/Retrolisthesis | 2021-01-18T19:03:16 | {"umls": ["C1562792"], "wikidata": ["Q4393723"]} |
Neonatal cholestasis defines persisting conjugated hyperbilirubinemia in the newborn [1]with conjugated bilirubin levels exceeding 15% (5.0 mg/dL) of total bilirubin level. The disease is either due to defects in bile excretion from hepatocytes or impaired bile flow.General presentations in neonates include abdom... | Neonatal cholestasis | c1112213 | 29,948 | wikipedia | https://en.wikipedia.org/wiki/Neonatal_cholestasis | 2021-01-18T18:41:34 | {"wikidata": ["Q6993476"]} |
## Summary
The purpose of this overview is to increase the awareness of clinicians regarding maturity-onset diabetes of the young (MODY) and its genetic causes and management.
The following are the goals of this overview:
### Goal 1.
Describe the clinical characteristics of MODY.
### Goal 2.
Review the gene... | Maturity-Onset Diabetes of the Young Overview | None | 29,949 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK500456/ | 2021-01-18T21:12:39 | {"synonyms": ["MODY Overview"]} |
Cocaine intoxication
Other namesCocaine toxicity, cocaine poisoning
Cocaine
SpecialtyToxicology
Cocaine intoxication refers to the pharmacological and subjective effects of cocaine on the body, primarily through its effects on neurotransmitter receptors in the brain. The short-term effects are usually desc... | Cocaine intoxication | c0009176 | 29,950 | wikipedia | https://en.wikipedia.org/wiki/Cocaine_intoxication | 2021-01-18T18:38:44 | {"icd-9": ["305.6"], "icd-10": ["T40.5", "F14.0"], "orphanet": ["90068"], "synonyms": [], "wikidata": ["Q5139133"]} |
Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.
## Epidemiology
The prevalence is unknown. It is seen mainly in ... | Monomelic amyotrophy | c1865384 | 29,951 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65684 | 2021-01-23T19:01:48 | {"gard": ["9697"], "mesh": ["C538253"], "omim": ["602440"], "umls": ["C1865384"], "icd-10": ["G12.8"], "synonyms": ["Benign focal amyotrophy", "Hirayama disease", "JMADUE", "Juvenile muscular atrophy of distal upper extremity", "Juvenile muscular atrophy of the distal upper limb"]} |
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: "Punding" – news · newspapers · books · sch... | Punding | c1963933 | 29,952 | wikipedia | https://en.wikipedia.org/wiki/Punding | 2021-01-18T18:30:06 | {"umls": ["C1963933"], "wikidata": ["Q20827012"]} |
Inflammation of the intestine causing diarrhea with blood
Dysentery
Other namesBloody diarrhea
A person with dysentery in a Burmese hospital, 1943
SpecialtyInfectious disease
SymptomsBloody diarrhea, abdominal pain, fever[1][2]
ComplicationsDehydration[3]
DurationLess than a week[4]
CausesUsually Shige... | Dysentery | c0013369 | 29,953 | wikipedia | https://en.wikipedia.org/wiki/Dysentery | 2021-01-18T18:50:49 | {"mesh": ["D004403"], "umls": ["C0013369"], "icd-10": ["A09.0", "A06.0", "A03.9", "A07.9"], "wikidata": ["Q129279"]} |
Loeys–Dietz syndrome
Other namesAortic aneurysm syndrome due to TGF-beta receptors anomalies
This condition is inherited in an autosomal dominant manner[1]
Pronunciation
* /ˌloʊiːzˈdiːts/ LOH-eez-DEETS[2]
SpecialtyCardiology, rheumatology, medical genetics
Loeys–Dietz syndrome (LDS) is an aut... | Loeys–Dietz syndrome | c1836635 | 29,954 | wikipedia | https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome | 2021-01-18T18:28:05 | {"gard": ["10788"], "mesh": ["D055947"], "umls": ["C1836635", "C2697932"], "orphanet": ["60030"], "wikidata": ["Q3508669"]} |
A rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 20, with a highly variable phenotype typically characterized by global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioral anomalies (e.g. auti... | Distal monosomy 20q | None | 29,955 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96152 | 2021-01-23T18:15:27 | {"icd-10": ["Q93.5"], "synonyms": ["Distal deletion 20q", "Monosomy 20qter", "Telomeric deletion 20q"]} |
Superior limbic keratoconjunctivitis
This condition affects cornea and limbus
SpecialtyOphthalmology
Superior limbic keratoconjunctivitis is an ocular disease[1] characterized by episodes of recurrent inflammation of the superior cornea and limbus, as well as of the superior tarsal and bulbar conjunctiva.[ci... | Superior limbic keratoconjunctivitis | c0339229 | 29,956 | wikipedia | https://en.wikipedia.org/wiki/Superior_limbic_keratoconjunctivitis | 2021-01-18T18:35:41 | {"gard": ["10940"], "umls": ["C0339229"], "orphanet": ["88633"], "wikidata": ["Q7643645"]} |
## Summary
### Clinical characteristics.
Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech and motor) is delayed; cognition is normal. ... | Saul-Wilson Syndrome | c1300285 | 29,957 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK554080/ | 2021-01-18T20:57:20 | {"synonyms": ["Microcephalic Osteodysplastic Dysplasia"]} |
A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present wi... | T-cell prolymphocytic leukemia | c2363142 | 29,958 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86871 | 2021-01-23T17:50:36 | {"mesh": ["D015461"], "umls": ["C0023494", "C2363142"], "icd-10": ["C91.6"], "synonyms": ["T-PLL", "T-cell chronic lymphocytic leukemia"]} |
Goldberg-Shprintzen megacolon syndrome (GOSHS) is a very rare genetic condition characterized by a swollen, irritated colon (megacolon); characteristic facial features; a small head, and intellectual disability. Most people with GOSHS also are born with Hirschsprung disease, a condition in which the colon is missing ... | Goldberg-Shprintzen megacolon syndrome | c1836123 | 29,959 | gard | https://rarediseases.info.nih.gov/diseases/9849/goldberg-shprintzen-megacolon-syndrome | 2021-01-18T18:00:14 | {"mesh": ["C537279"], "omim": ["609460"], "umls": ["C1836123"], "orphanet": ["66629"], "synonyms": ["Goldberg-Shprintzen syndrome", "GOSHS"]} |
## Description
Mseleni joint disease is a familial degenerative osteoarthropathy affecting several hundred persons in a remote rural region of northern Zululand, South Africa. The condition presents in childhood and progresses relentlessly, leading to severe physical handicap by early adulthood (summary by Agarwal ... | MSELENI JOINT DISEASE | c2931420 | 29,960 | omim | https://www.omim.org/entry/613342 | 2019-09-22T15:58:54 | {"mesh": ["C537086"], "omim": ["613342"], "orphanet": ["2619"]} |
## Description
Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism ... | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4 | c1864961 | 29,961 | omim | https://www.omim.org/entry/609954 | 2019-09-22T16:05:24 | {"omim": ["609954"]} |
Period of intense fear of sudden onset
For other uses, see Panic attack (disambiguation).
Panic attack
A depiction of someone experiencing a panic attack, being reassured by another person.
SpecialtyPsychiatry
SymptomsPeriods of intense fear, palpitations, sweating, shaking, shortness of breath, numbness[1][2... | Panic attack | c0086769 | 29,962 | wikipedia | https://en.wikipedia.org/wiki/Panic_attack | 2021-01-18T18:51:26 | {"mesh": ["D016584"], "icd-9": ["300.01"], "icd-10": ["F41.0"], "wikidata": ["Q696490"]} |
Lymphangiosarcoma
SpecialtyOncology
Lymphangiosarcoma is a rare cancer which occurs in long-standing cases of primary or secondary lymphedema. It involves either the upper or lower lymphedematous extremities but is most common in upper extremities.[1] Although its name implies lymphatic origin, it is believed ... | Lymphangiosarcoma | c0024224 | 29,963 | wikipedia | https://en.wikipedia.org/wiki/Lymphangiosarcoma | 2021-01-18T18:41:12 | {"gard": ["8706"], "mesh": ["D008204"], "umls": ["C0024224"], "wikidata": ["Q3913024"]} |
## Description
Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated w... | ANEURYSM, INTRACRANIAL BERRY, 10 | c1862932 | 29,964 | omim | https://www.omim.org/entry/612587 | 2019-09-22T16:01:09 | {"doid": ["0060228"], "mesh": ["C566284"], "omim": ["105800", "612587"], "orphanet": ["231160"], "synonyms": ["Familial berry aneurysm", "Familial intracranial saccular aneurysm"]} |
A number sign (#) is used with this entry because of evidence that this form of X-linked mental retardation is caused by mutation in the BRWD3 gene (300553).
Clinical Features
Field et al. (2007) identified 3 families with X-linked mental retardation (XLMR) associated with macrocephaly. The first family included a ... | MENTAL RETARDATION, X-LINKED 93 | c1970841 | 29,965 | omim | https://www.omim.org/entry/300659 | 2019-09-22T16:19:51 | {"mesh": ["C567066"], "omim": ["300659"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY"]} |
Pulmonary atresia with intact ventricular septum accounts for less than 3% of all congenital heart defects (Grossfeld et al., 1997).
Chitayat et al. (1992) reported 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found in the newborn period to have this abnormality. An attempt at surg... | PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM | c0344975 | 29,966 | omim | https://www.omim.org/entry/265150 | 2019-09-22T16:23:01 | {"mesh": ["C562832"], "omim": ["265150"], "orphanet": ["1208"]} |
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: "Ankle flare" – news · newspapers · books · scholar · JSTOR (November 2014) (Learn how and when to remove this template ... | Ankle flare | c2733181 | 29,967 | wikipedia | https://en.wikipedia.org/wiki/Ankle_flare | 2021-01-18T18:38:42 | {"umls": ["C2733181"], "wikidata": ["Q4766081"]} |
A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day.
*[v... | Mild phenylketonuria | None | 29,968 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79253 | 2021-01-23T17:23:49 | {"gard": ["10324"], "icd-10": ["E70.1"], "synonyms": ["Mild PKU", "Variant PKU", "Variant phenylketonuria", "mPKU"]} |
Mycosis fungoides is the most common form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. Although the skin is invol... | Mycosis fungoides | c0026948 | 29,969 | medlineplus | https://medlineplus.gov/genetics/condition/mycosis-fungoides/ | 2021-01-27T08:25:07 | {"gard": ["3863"], "mesh": ["D009182"], "omim": ["254400"], "synonyms": []} |
Medical condition
Autonomic dysreflexia
Other namesAutonomic hyperreflexia[1]
SpecialtyNeurology
Autonomic dysreflexia (AD), also previously known as mass reflex,[2] is a potential medical emergency classically characterized by uncontrolled hypertension and bradycardia, although tachycardia is known to comm... | Autonomic dysreflexia | c0238015 | 29,970 | wikipedia | https://en.wikipedia.org/wiki/Autonomic_dysreflexia | 2021-01-18T18:46:06 | {"mesh": ["D020211"], "icd-9": ["337.3"], "icd-10": ["G90.4"], "wikidata": ["Q4826775"]} |
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic ago... | Ellis Van Creveld syndrome | c0013903 | 29,971 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289 | 2021-01-23T18:51:14 | {"gard": ["1301"], "mesh": ["D004613"], "omim": ["225500", "617088", "618123"], "umls": ["C0013903"], "icd-10": ["Q77.6"], "synonyms": ["Chondroectodermal dysplasia", "Mesodermic dysplasia"]} |
Portal hypertensive gastropathy
Image of portal hypertensive gastropathy seen on endoscopy of the stomach. The normally smooth mucosa of the stomach has developed a mosaic like appearance, that resembles snake-skin.
SpecialtyGastroenterology
Portal hypertensive gastropathy refers to changes in the mucosa of ... | Portal hypertensive gastropathy | c0580174 | 29,972 | wikipedia | https://en.wikipedia.org/wiki/Portal_hypertensive_gastropathy | 2021-01-18T18:53:40 | {"icd-9": ["537.89"], "wikidata": ["Q1495648"]} |
Hughes–Stovin syndrome
Deep vein thrombosis is one of the characteristics of this syndrome
SpecialtyImmunology
Hughes–Stovin syndrome is a rare autoimmune disorder of unknown cause that is characterized by the combination of multiple pulmonary artery aneurysms and deep vein thromboses. It is named after ... | Hughes–Stovin syndrome | None | 29,973 | wikipedia | https://en.wikipedia.org/wiki/Hughes%E2%80%93Stovin_syndrome | 2021-01-18T18:57:17 | {"icd-9": ["279.4"], "icd-10": ["M35.9"], "orphanet": ["228116"], "synonyms": [], "wikidata": ["Q609675"]} |
A number sign (#) is used with this entry because thrombocythemia-1 (THCYT1) is caused by heterozygous mutation in the thrombopoietin gene (THPO; 600044) on chromosome 3q27.
Description
Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting ... | THROMBOCYTHEMIA 1 | c0040028 | 29,974 | omim | https://www.omim.org/entry/187950 | 2019-09-22T16:32:40 | {"doid": ["2224"], "mesh": ["D013920"], "omim": ["187950"], "orphanet": ["71493", "3318"], "synonyms": ["Alternative titles", "THROMBOCYTOSIS 1", "Hereditary thrombocythemia", "Familial thrombocythemia"]} |
GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lact... | GRACILE syndrome | c1864002 | 29,975 | gard | https://rarediseases.info.nih.gov/diseases/1/gracile-syndrome | 2021-01-18T18:00:13 | {"mesh": ["C537934"], "omim": ["603358"], "umls": ["C1864002"], "orphanet": ["53693"], "synonyms": ["FLNMS", "Finnish lactic acidosis with hepatic hemosiderosis", "Fellman syndrome", "Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death", "Finnish lethal neonatal metabolic synd... |
Family of genetic conditions caused by mutations affecting Ras genes
The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction, including:
* Capillary... | RASopathy | None | 29,976 | wikipedia | https://en.wikipedia.org/wiki/RASopathy | 2021-01-18T18:29:15 | {"orphanet": ["536391"], "synonyms": [], "wikidata": ["Q1029344"]} |
Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.
## Epidemiology
Prevalence is estimated at 1/53,000 and annual... | Von Hippel-Lindau disease | c0019562 | 29,977 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=892 | 2021-01-23T18:59:45 | {"gard": ["7855"], "mesh": ["D006623"], "omim": ["193300"], "umls": ["C0019562"], "icd-10": ["Q85.8"], "synonyms": ["Familial cerebelloretinal angiomatosis", "Lindau disease", "VHL", "Von Hippel-Lindau syndrome"]} |
Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). They can have movement prob... | Aminoacylase 1 deficiency | c1835922 | 29,978 | medlineplus | https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency/ | 2021-01-27T08:25:27 | {"gard": ["9741"], "mesh": ["C538246"], "omim": ["609924"], "synonyms": []} |
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultraso... | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | c3810343 | 29,979 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397927 | 2021-01-23T17:34:29 | {"omim": ["615709"], "icd-10": ["Q87.5"]} |
Not to be confused with environmental burden of 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: "Environmental disease" – news · newspapers · books · scholar ... | Environmental disease | c0021508 | 29,980 | wikipedia | https://en.wikipedia.org/wiki/Environmental_disease | 2021-01-18T18:57:23 | {"mesh": ["D007280"], "wikidata": ["Q3751709"]} |
Persistent generalized lymphadenopathy (PGL) is enlarged, painless, non-tender lymph nodes occurring in a couple of different areas for more than three to six months for which no other reason can be found.[1] This condition occurs frequently in people in the latency period of HIV/AIDS.[1]
The lymphatic system is par... | Persistent generalized lymphadenopathy | c0476486 | 29,981 | wikipedia | https://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy | 2021-01-18T18:56:22 | {"umls": ["C0476486"], "wikidata": ["Q7170411"]} |
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. (February 2018)
An innate immune defect is a defect in the innate immune response that blunts the response to infection. These defects may occur in mo... | Innate immune defect | None | 29,982 | wikipedia | https://en.wikipedia.org/wiki/Innate_immune_defect | 2021-01-18T18:32:13 | {"wikidata": ["Q48933598"]} |
A number sign (#) is used with this entry because hereditary neuropathy with liability to pressure palsies (HNPP) can be caused by deletion of the gene encoding peripheral myelin protein-22 (PMP22; 601097); duplication of PMP22 causes Charcot-Marie-Tooth disease type 1A (CMT1A; 118220). Point mutation in PMP22 may re... | NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES | c0393814 | 29,983 | omim | https://www.omim.org/entry/162500 | 2019-09-22T16:37:25 | {"doid": ["0060843"], "mesh": ["C536965"], "omim": ["162500"], "orphanet": ["640"], "synonyms": ["Alternative titles", "POLYNEUROPATHY, FAMILIAL RECURRENT", "TOMACULOUS NEUROPATHY"], "genereviews": ["NBK1392"]} |
A number sign (#) is used with this entry because of evidence that Alkuraya-Kucinskas syndrome (ALKKUCS) is caused by homozygous or compound heterozygous mutation in the KIAA1109 gene (611565) on chromosome 4q27.
Description
ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthr... | ALKURAYA-KUCINSKAS SYNDROME | c4693347 | 29,984 | omim | https://www.omim.org/entry/617822 | 2019-09-22T15:45:01 | {"omim": ["617822"]} |
Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage around the ribs. Specifically, people with Tietze syndrome have swelling of the cartilage that joins the upper ribs to the breastbone. This is called the costochondral junction. Signs and symptoms of this condition ... | Tietze syndrome | c0040213 | 29,985 | gard | https://rarediseases.info.nih.gov/diseases/10100/tietze-syndrome | 2021-01-18T17:57:21 | {"mesh": ["D013991"], "umls": ["C0040213"], "synonyms": ["Tietze's syndrome", "Chondropathia tuberosa", "Costochondral junction syndrome"]} |
Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasti... | Pseudopseudohypoparathyroidism | c0033835 | 29,986 | gard | https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism | 2021-01-18T17:58:04 | {"mesh": ["D011556"], "omim": ["612463"], "umls": ["C0033835"], "orphanet": ["79445"], "synonyms": ["PPHP", "Albright hereditary osteodystrophy without multiple hormone resistance", "Pseudopseudo-Hypoparathyroidism", "Pseudo-Pseudohypoparathyroidism"]} |
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of systemic scleroderma (systemic sclerosis) characterized by skin hardening (fibrosis) and problems in many organs of the body. The disease can occur at any age but mainly affects people between 40 and 50 years of age. Symptoms include Raynaud’s phenomenon; s... | Diffuse cutaneous systemic sclerosis | c1258104 | 29,987 | gard | https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis | 2021-01-18T18:00:52 | {"mesh": ["D045743"], "umls": ["C1258104"], "orphanet": ["220393"], "synonyms": ["Diffuse cutaneous systemic sclerosis", "DcSSc", "Progressive cutaneous systemic scleroderma", "Progressive cutaneous systemic sclerosis", "Diffuse cutaneous systemic scleroderma"]} |
## Summary
### Clinical characteristics.
Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature f... | Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia | c1833662 | 29,988 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1476/ | 2021-01-18T21:17:55 | {"mesh": ["C563476"], "synonyms": ["IBMPFD", "Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia", "Multisystem Proteinopathy"]} |
A number sign (#) is used with this entry because of evidence that pulmonary surfactant metabolism dysfunction-4 (SMDP4) is caused by mutation in the CSF2RA gene (306250) on chromosome Xp22.
Description
Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate ... | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 | c2931035 | 29,989 | omim | https://www.omim.org/entry/300770 | 2019-09-22T16:19:36 | {"doid": ["12120"], "mesh": ["C535832"], "omim": ["300770"], "orphanet": ["264675"], "synonyms": ["Alternative titles", "PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 4", "PAP DUE TO CSF2RA DEFICIENCY", "CSF2RA DEFICIENCY"]} |
A number sign (#) is used with this entry because Griscelli syndrome type 3 (GS3), which is characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH; 606526) or MYO5A (160777) genes.
For a discussion of phenotypic and genetic heterogeneity i... | GRISCELLI SYNDROME, TYPE 3 | c1836573 | 29,990 | omim | https://www.omim.org/entry/609227 | 2019-09-22T16:06:28 | {"doid": ["0060834"], "mesh": ["C537303"], "omim": ["609227"], "orphanet": ["381", "79478"], "synonyms": ["Chédiak-Higashi-like syndrome", "Griscelli-Pruniéras syndrome", "Partial albinism-immunodeficiency syndrome"]} |
Odontogenic cyst are a group of jaw cysts that are formed from tissues involved in odontogenesis (tooth development). Odontogenic cysts are closed sacs, and have a distinct membrane derived from rests of odontogenic epithelium. It may contain air, fluids, or semi-solid material. Intra-bony cysts are most common in th... | Odontogenic cyst | c0028879 | 29,991 | wikipedia | https://en.wikipedia.org/wiki/Odontogenic_cyst | 2021-01-18T19:04:09 | {"mesh": ["D009807"], "umls": ["C0028879"], "wikidata": ["Q7077950"]} |
Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with 'ground glass' cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually aff... | Glassy cell carcinoma of the cervix uteri | None | 29,992 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213833 | 2021-01-23T18:38:54 | {"icd-10": ["C53.0", "C53.1", "C53.8"]} |
A number sign (#) is used with this entry because of evidence that boomerang dysplasia (BOOMD) is caused by heterozygous mutation in the FLNB gene (603381) on chromosome 3p14.
Clinical Features
Kozlowski et al. (1981), Tenconi et al. (1983), and Kozlowski et al. (1985) each described 1 patient with a disorder terme... | BOOMERANG DYSPLASIA | c0432201 | 29,993 | omim | https://www.omim.org/entry/112310 | 2019-09-22T16:44:10 | {"doid": ["0050680"], "mesh": ["C536573"], "omim": ["112310"], "orphanet": ["1263"], "genereviews": ["NBK2534"]} |
Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with D... | Denys-Drash syndrome | c0950121 | 29,994 | gard | https://rarediseases.info.nih.gov/diseases/5576/denys-drash-syndrome | 2021-01-18T18:00:55 | {"mesh": ["D030321"], "omim": ["194080"], "umls": ["C0950121"], "orphanet": ["220"], "synonyms": ["Drash syndrome", "Wilms tumor and pseudohermaphroditism", "Nephropathy, wilms tumor, and genital anomalies", "Pseudohermaphroditism, nephron disorder and Wilms' tumor", "Nephropathy associated with male pseudohermaphrodit... |
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two s... | Hereditary angioedema with C1Inh deficiency | None | 29,995 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=528623 | 2021-01-23T18:35:24 | {"synonyms": ["HAE with C1 inhibitor deficiency", "HAE with C1Inh deficiency", "Hereditary angioneurotic edema with C1 inhibitor deficiency", "Hereditary angioneurotic edema with C1Inh deficiency"]} |
Disease that can be transmitted from other species to humans
"Zoonotic" redirects here. For the television episode, see Zoonotic (Law & Order: Criminal Intent).
Zoonosis
Other namesZoönosis
A dog with rabies.
Pronunciation
* /zoʊˈɒnəsɪs, ˌzoʊəˈnoʊsɪs/[1]
SpecialtyInfectious disease
A zoonosis (... | Zoonosis | c0043528 | 29,996 | wikipedia | https://en.wikipedia.org/wiki/Zoonosis | 2021-01-18T18:48:32 | {"mesh": ["D015047"], "wikidata": ["Q182672"]} |
Tumor-like disorders of the lung pleura are a group of conditions that on initial radiological studies might be confused with malignant lesions. Radiologists must be aware of these conditions in order to avoid misdiagnosing patients. Examples of such lesions are: pleural plaques, thoracic splenosis, catamenial pn... | Tumor-like disorders of the lung pleura | None | 29,997 | wikipedia | https://en.wikipedia.org/wiki/Tumor-like_disorders_of_the_lung_pleura | 2021-01-18T19:00:29 | {"wikidata": ["Q7852669"]} |
Cortical deafness
Location of the primary auditory cortex in the brain
SpecialtyNeurology, otorhinolaryngology
Cortical deafness is a rare form of sensorineural hearing loss caused by damage to the primary auditory cortex. Cortical deafness is an auditory disorder where the patient is unable to hear sounds b... | Cortical deafness | c0392704 | 29,998 | wikipedia | https://en.wikipedia.org/wiki/Cortical_deafness | 2021-01-18T19:08:16 | {"mesh": ["D006313"], "wikidata": ["Q5173263"]} |
Orbital cellulitis
Orbital Cellulitis
SpecialtyOphthalmology
Orbital cellulitis is inflammation of eye tissues behind the orbital septum. It is most commonly caused by an acute spread of infection into the eye socket from either the adjacent sinuses or through the blood. It may also occur after trauma. W... | Orbital cellulitis | c0149507 | 29,999 | wikipedia | https://en.wikipedia.org/wiki/Orbital_cellulitis | 2021-01-18T19:10:14 | {"mesh": ["D054517"], "umls": ["C0149507"], "wikidata": ["Q622969"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.