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Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.
## Epidemiology
Prevalence of the primary form (PVT not associated with cirrhosis or a tumour) is estimated at between 1 and 9/100,000. PVT may occur at any age.
## Clinical description
Acute... | Primitive portal vein thrombosis | c0155773 | 7,900 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=854 | 2021-01-23T17:48:49 | {"umls": ["C0155773"], "icd-10": ["I81"], "synonyms": ["Non-cirrhotic portal vein thrombosis"]} |
For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (165720).
Mapping
In a case-control genomewide association study for knee osteoarthritis using approximately 100,000 single-nucleotide polymorphisms (SNPs) and involving 3,586 individuals, Miyamoto et al. (2008) found ... | OSTEOARTHRITIS SUSCEPTIBILITY 6 | c0409959 | 7,901 | omim | https://www.omim.org/entry/612401 | 2019-09-22T16:01:33 | {"mesh": ["D020370"], "omim": ["612401"], "icd-10": ["M17", "M17.9"], "synonyms": ["Alternative titles", "OSTEOARTHRITIS OF KNEE"]} |
A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, shortness of breath, including recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as... | Pulmonary artery hypoplasia | c0265910 | 7,902 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99083 | 2021-01-23T18:10:16 | {"icd-10": ["Q25.7"], "synonyms": ["PAH", "Unilateral Pulmonary Artery Hypoplasia"]} |
The congenital absence of the gluteal muscle was described in 1976, as occurring in a brother and sister with absence of gluteal muscles and with spina bifida occulta. It was thought to be caused by an autosomal recessive gene.
There was a case of a 28 month old with renal ectopia who showed absence of the gluteal m... | Absence of gluteal muscle | c1856398 | 7,903 | wikipedia | https://en.wikipedia.org/wiki/Absence_of_gluteal_muscle | 2021-01-18T18:44:42 | {"gard": ["8518"], "umls": ["C1856398"], "wikidata": ["Q4669696"]} |
Properdin deficiency
This condition is inherited in an x-linked recessive manner
Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor responsible for the stabilization of the alternative C3 convertase, is deficient.[1] Affected individuals are susceptible to fu... | Properdin deficiency | c0398762 | 7,904 | wikipedia | https://en.wikipedia.org/wiki/Properdin_deficiency | 2021-01-18T18:41:50 | {"gard": ["4513"], "mesh": ["C537241"], "umls": ["C0398762"], "orphanet": ["2966"], "wikidata": ["Q7250189"]} |
Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread a... | Rippling muscle disease | c1838254 | 7,905 | medlineplus | https://medlineplus.gov/genetics/condition/rippling-muscle-disease/ | 2021-01-27T08:24:39 | {"gard": ["9164"], "mesh": ["C535686"], "omim": ["600332", "606072"], "synonyms": []} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Autoimmune autonomic ganglionopathy" – news · newspapers · books · scholar · JSTOR (September 2014) (Learn how and when... | Autoimmune autonomic ganglionopathy | None | 7,906 | wikipedia | https://en.wikipedia.org/wiki/Autoimmune_autonomic_ganglionopathy | 2021-01-18T18:30:56 | {"gard": ["11917"], "wikidata": ["Q18209712"]} |
A number sign (#) is used with this entry because Kagami-Ogata syndrome is an imprinting disorder involving genes within the imprinted region of chromosome 14q32.
Clinical Features
Epigenetic germline modification, or imprinting, leads to functional differences in gene expression throughout development, dependi... | KAGAMI-OGATA SYNDROME | c1842466 | 7,907 | omim | https://www.omim.org/entry/608149 | 2019-09-22T16:08:14 | {"mesh": ["C536471"], "omim": ["608149"], "orphanet": ["96334", "254528", "254519", "254534"], "synonyms": ["Alternative titles", "UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14"]} |
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hyp... | Lissencephaly with cerebellar hypoplasia type A | None | 7,908 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100011 | 2021-01-23T17:36:55 | {"icd-10": ["Q04.3"]} |
A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.
*[v]: View this template
*[t]: Discuss this template
*[e]: ... | Axenfeld anomaly | c0266548 | 7,909 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98978 | 2021-01-23T16:57:02 | {"mesh": ["C535679"], "omim": ["601631", "602482"], "umls": ["C0266548"], "icd-10": ["Q15.0"]} |
Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months witho... | Marburg acute multiple sclerosis | c4707723 | 7,910 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228157 | 2021-01-23T18:36:26 | {"icd-10": ["G35"], "synonyms": ["Acute multiple sclerosis, Marburg type", "Acute multiple sclerosis, Marburg variant"]} |
Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Si... | Idiopathic inflammatory myopathy | c0751356 | 7,911 | gard | https://rarediseases.info.nih.gov/diseases/9128/idiopathic-inflammatory-myopathy | 2021-01-18T17:59:50 | {"mesh": ["D009220"], "omim": ["160750"], "orphanet": ["98482"], "synonyms": ["Idiopathic inflammatory myopathy, familial", "IIM", "Myositis", "Idiopathic inflammatory myositis", "IMM"]} |
FOXG1 syndrome is a neurological condition characterized by impaired development and structural brain abnormalities. Features vary from case to case, and may include an unusually small head size (microcephaly), a specific pattern of brain development (including partial or complete agenesis of the corpus callosum, red... | FOXG1 syndrome | c3150705 | 7,912 | gard | https://rarediseases.info.nih.gov/diseases/12825/foxg1-syndrome | 2021-01-18T18:00:26 | {"synonyms": ["FOXG1-related disorder"]} |
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
## Epidemiology
Prevalence is estimated at 1/2,000-1/4,000.
## Etiology
Primary congenital hypothyroidism may be due to a developmental anomaly, al... | Primary congenital hypothyroidism | c3715197 | 7,913 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=226295 | 2021-01-23T16:59:19 | {"icd-10": ["E03.0", "E03.1"]} |
Paraneoplastic keratoderma
SpecialtyDermatology
Paraneoplastic keratoderma is a cutaneous condition characterized by a hornlike skin texture associated with an internal malignancy.[1]
## See also[edit]
* Keratoderma
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, ... | Paraneoplastic keratoderma | None | 7,914 | wikipedia | https://en.wikipedia.org/wiki/Paraneoplastic_keratoderma | 2021-01-18T19:08:49 | {"wikidata": ["Q7135462"]} |
Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.
## Epidemiology
The exact annual incidence of this form of PS is not known but the incidence of a... | Pfeiffer syndrome type 3 | c0220658 | 7,915 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93260 | 2021-01-23T17:11:35 | {"mesh": ["D000168"], "omim": ["101600"], "icd-10": ["Q87.0"]} |
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Lymphangioleiomyomatosis (LAM)
Other nameslymphangiomyomatosis, LAM
Figure A shows the location of the lungs and airw... | Lymphangioleiomyomatosis | c0751674 | 7,916 | wikipedia | https://en.wikipedia.org/wiki/Lymphangioleiomyomatosis | 2021-01-18T18:58:48 | {"gard": ["3319"], "mesh": ["D018192"], "umls": ["C0751674"], "icd-9": ["516.4"], "orphanet": ["538"], "wikidata": ["Q1878759"]} |
"Didelphys" redirects here. For the genus commonly known as large American opossums, see didelphis.
Uterus didelphys
Other namesBicervical bicornuate uterus
Ultrasound showing didelphys
SpecialtyGynaecology
Uterus didelphys (sometimes also uterus didelphis) represents a uterine malformation where the ... | Uterus didelphys | c0266393 | 7,917 | wikipedia | https://en.wikipedia.org/wiki/Uterus_didelphys | 2021-01-18T18:57:04 | {"umls": ["C0266393"], "icd-9": ["752.2"], "icd-10": ["Q51.1"], "orphanet": ["180086"], "wikidata": ["Q3936703"]} |
Jancar (1967) reported the case of a 19-year-old man with ectrodactyly, mental retardation, and spastic paraplegia. Zlotogora (1987) described the combination in a 3-year-old child. Zlotogora and Glick (1993) reported a third case in an offspring of healthy Moslem Arabs who were first cousins. They raised the pos... | LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY | c0796001 | 7,918 | omim | https://www.omim.org/entry/246555 | 2019-09-22T16:25:47 | {"mesh": ["C537446"], "omim": ["246555"], "orphanet": ["1891"]} |
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed devel... | Cri-du-chat syndrome | c0010314 | 7,919 | medlineplus | https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/ | 2021-01-27T08:25:13 | {"gard": ["6213"], "mesh": ["D003410"], "omim": ["123450"], "synonyms": []} |
Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papillede... | Rosette-forming glioneuronal tumor | c4331262 | 7,920 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251975 | 2021-01-23T17:12:03 | {"synonyms": ["RGNT"]} |
A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe fo... | Mucopolysaccharidosis type 2 | c0026705 | 7,921 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=580 | 2021-01-23T18:10:01 | {"gard": ["6675"], "mesh": ["D016532"], "omim": ["309900"], "umls": ["C0026705", "C2718304"], "icd-10": ["E76.1"], "synonyms": ["Hunter syndrome", "Iduronate 2-sulfatase deficiency", "MPS2", "MPSII", "Mucopolysaccharidosis type II"]} |
B-cell prolymphocytic leukemia
Prolymphocyte
SpecialtyHematology, oncology
B-cell prolymphocytic leukemia, referred to as B-PLL, is a rare blood cancer. It is a more aggressive, but still treatable, form of leukemia.
## Contents
* 1 B-cell Prolymphocytic Leukemia
* 1.1 Classification
* 2 Epidem... | B-cell prolymphocytic leukemia | c0475801 | 7,922 | wikipedia | https://en.wikipedia.org/wiki/B-cell_prolymphocytic_leukemia | 2021-01-18T19:03:12 | {"gard": ["8223"], "mesh": ["D054403"], "umls": ["C0475801"], "orphanet": ["86852"], "wikidata": ["Q2086442"]} |
Male breast cancer
The pink and blue ribbon is used for awareness of male breast cancer.
SpecialtyOncology
Male breast cancer (male breast neoplasm) is a rare cancer in males that originates from the breast. Many males with breast cancer have inherited a BRCA mutation, but there are other causes, includi... | Male breast cancer | c0242788 | 7,923 | wikipedia | https://en.wikipedia.org/wiki/Male_breast_cancer | 2021-01-18T19:04:55 | {"gard": ["9312"], "mesh": ["D018567"], "umls": ["C0242788"], "icd-9": ["175"], "icd-10": ["C50"], "wikidata": ["Q6742919"]} |
Tumour cells on blood smear
Carcinocythemia
Other namesCarcinoma cell leukemia
A case of carcinocythemia. The large, round cells are breast cancer cells circulating in the peripheral blood.[1]
SpecialtyHematology, oncology
CausesUsually secondary to metastatic cancer in the bone marrow
Differential dia... | Carcinocythemia | None | 7,924 | wikipedia | https://en.wikipedia.org/wiki/Carcinocythemia | 2021-01-18T18:49:40 | {"wikidata": ["Q74426740"]} |
Olfactory neuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It accounts for about 5% of all cancers of the nasal cavity and paranasal sinuses. It develops in nerve tissue associated with t... | Olfactory neuroblastoma | c0206717 | 7,925 | gard | https://rarediseases.info.nih.gov/diseases/2197/olfactory-neuroblastoma | 2021-01-18T17:58:37 | {"mesh": ["D018304"], "umls": ["C0206717"], "orphanet": ["1957"], "synonyms": ["Esthesioneuroblastoma"]} |
A number sign (#) is used with this entry because of evidence that complex cortical dysplasia with other brain malformations-4 (CDCBM4) is caused by heterozygous mutation in the TUBG1 gene (191135) on chromosome 17q21.
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Clinical Features
Poiri... | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 | c3809420 | 7,926 | omim | https://www.omim.org/entry/615412 | 2019-09-22T15:52:13 | {"omim": ["615412"]} |
"Milia" redirects here. For other uses, see Milia (disambiguation).
Milia
Milia on the eyelid of an adult male
SpecialtyDermatology
Relative incidence of cutaneous cysts. Milia is labeled at bottom right.
A milium (plural milia), also called a milk spot or an oil seed,[citation needed] is a clog of the ecc... | Milium (dermatology) | c0345996 | 7,927 | wikipedia | https://en.wikipedia.org/wiki/Milium_(dermatology) | 2021-01-18T18:45:40 | {"umls": ["C0345996"], "icd-9": ["706.1", "704.8", "374.84"], "icd-10": ["L72.0"], "wikidata": ["Q1934449"]} |
Sleep state misperception
Other namesParadoxical insomnia, pseudo-insomnia, subjective insomnia, subjective sleepiness, sleep hypochondriasis[1]
SpecialtySleep medicine
Sleep state misperception (SSM) is a term in the International Classification of Sleep Disorders (ICSD) most commonly used for people wh... | Sleep state misperception | c0752286 | 7,928 | wikipedia | https://en.wikipedia.org/wiki/Sleep_state_misperception | 2021-01-18T18:53:24 | {"mesh": ["D020919"], "icd-9": ["307.42", "307.49", "780.52"], "icd-10": ["G47.0", "F51.0"], "wikidata": ["Q7539766"]} |
Pesticide toxicity
A sign warning about potential pesticide exposure.
SpecialtyEmergency medicine, toxicology
Health effects of pesticides may be acute or delayed in those who are exposed.[1] A 2007 systematic review found that "most studies on non-Hodgkin lymphoma and leukemia showed positive associatio... | Health effects of pesticides | None | 7,929 | wikipedia | https://en.wikipedia.org/wiki/Health_effects_of_pesticides | 2021-01-18T19:02:12 | {"wikidata": ["Q10302339"]} |
A number sign (#) is used with this entry because of evidence that bifid nose with or without anorectal and renal anomalies (BNAR) is caused by homozygous mutation in the FREM1 gene (608944) on chromosome 9p22.
Mutation in FREM1 can also cause Manitoba oculotrichoanal (MOTA; 248450) syndrome.
Clinical Features
... | BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES | c2750433 | 7,930 | omim | https://www.omim.org/entry/608980 | 2019-09-22T16:06:52 | {"mesh": ["C567672"], "omim": ["608980"], "orphanet": ["217266"], "genereviews": ["NBK1728"]} |
Short bowel syndrome
Other namesShort gut syndrome, short gut, intestinal failure
A piece of diseased ileum following removal by surgery.
SpecialtyGastroenterology
SymptomsDiarrhea, dehydration, malnutrition, weight loss[1]
ComplicationsAnemia, kidney stones[2]
CausesSurgical removal of a large portion of... | Short bowel syndrome | c0036992 | 7,931 | wikipedia | https://en.wikipedia.org/wiki/Short_bowel_syndrome | 2021-01-18T19:03:31 | {"gard": ["1502"], "mesh": ["D012778"], "umls": ["C0036992"], "icd-9": ["579.3"], "icd-10": ["K91.8"], "orphanet": ["104008"], "wikidata": ["Q662272"]} |
X-linked lymphoproliferative syndrome (XLP) is an immune system disorder that occurs almost exclusively in males. People with XLP have an increased risk of infection because their body cannot properly regulate the number of immune system cells (lymphocytes) and blood cells. The symptoms associated with XLP vary f... | X-linked lymphoproliferative syndrome | c0549463 | 7,932 | gard | https://rarediseases.info.nih.gov/diseases/10915/x-linked-lymphoproliferative-syndrome | 2021-01-18T17:57:02 | {"mesh": ["D008232"], "omim": ["308240", "300635"], "orphanet": ["2442"], "synonyms": ["XLP", "X-linked lymphoproliferative disease", "Lymphoproliferative disease, X-linked", "XLPD", "Duncan disease", "Epstein Barr virus infection, familial fatal", "EBV infection, severe, susceptibility to", "EBVS", "X-linked progressi... |
## Summary
### Clinical characteristics.
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformati... | Capillary Malformation-Arteriovenous Malformation Syndrome | c1842180 | 7,933 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK52764/ | 2021-01-18T21:36:32 | {"mesh": ["C564254"], "synonyms": ["CM-AVM Syndrome"]} |
This article is about the disease in dogs. For the disease in humans, see Hip dysplasia. For the disease in other animals, see Hip dysplasia § Other animals.
Hip dysplasia in a Labrador Retriever
Normal hips, for comparison
In dogs, hip dysplasia is an abnormal formation of the hip socket that, in its more severe ... | Hip dysplasia (canine) | c0019556 | 7,934 | wikipedia | https://en.wikipedia.org/wiki/Hip_dysplasia_(canine) | 2021-01-18T18:58:52 | {"mesh": ["D006619"], "wikidata": ["Q1434611"]} |
a rare inherited disorder affecting the metabolism of bilirubin
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: "Crigler–Najjar syndrome" – news · newspapers · books ·... | Crigler–Najjar syndrome | c0010324 | 7,935 | wikipedia | https://en.wikipedia.org/wiki/Crigler%E2%80%93Najjar_syndrome | 2021-01-18T18:56:32 | {"mesh": ["D003414"], "umls": ["C0010324"], "icd-9": ["277.4"], "orphanet": ["205"], "wikidata": ["Q1140000"]} |
Muscle imbalance
Agonist and antagonist muscles have a role in muscle imbalance.
Muscle imbalance can be described as the respective equality between the antagonist and agonist, this balance is necessary for normal muscle movement and roles.[1] Muscular imbalance can also be explained in the scenario where... | Muscle imbalance | c0262561 | 7,936 | wikipedia | https://en.wikipedia.org/wiki/Muscle_imbalance | 2021-01-18T18:41:10 | {"wikidata": ["Q1955408"]} |
For other uses, see Concussion (disambiguation).
Type of traumatic brain injury
Concussion
Other namesMild brain injury, mild traumatic brain injury (mTBI), mild head injury (MHI), minor head trauma
Acceleration (g-forces) can exert rotational forces in the brain, especially the midbrain and diencephalon.
Spe... | Concussion | c0006107 | 7,937 | wikipedia | https://en.wikipedia.org/wiki/Concussion | 2021-01-18T18:35:32 | {"mesh": ["D001924"], "icd-9": ["850"], "icd-10": ["S06.0"], "wikidata": ["Q326921"]} |
Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) throug... | Lateral meningocele syndrome | c1851710 | 7,938 | medlineplus | https://medlineplus.gov/genetics/condition/lateral-meningocele-syndrome/ | 2021-01-27T08:25:08 | {"gard": ["9873"], "mesh": ["C537878"], "omim": ["130720"], "synonyms": []} |
Splitting (also called black-and-white thinking or all-or-nothing thinking) is the failure in a person's thinking to bring together the dichotomy of both positive and negative qualities of the self and others into a cohesive, realistic whole. It is a common defense mechanism.[1] The individual tends to think in extre... | Splitting (psychology) | None | 7,939 | wikipedia | https://en.wikipedia.org/wiki/Splitting_(psychology) | 2021-01-18T19:09:51 | {"wikidata": ["Q1325774"]} |
Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. It most commonly affects the scalp, but any location of the body can be affected. While most people with aplasia cutis congenita have no othe... | Aplasia cutis congenita | c0282160 | 7,940 | gard | https://rarediseases.info.nih.gov/diseases/5835/aplasia-cutis-congenita | 2021-01-18T18:02:04 | {"mesh": ["D004476"], "omim": ["107600"], "orphanet": ["1114"], "synonyms": ["Aplasia cutis congenita nonsyndromic", "Congenital defect of skull and scalp", "Scalp defect congenital"]} |
Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 9... | Hereditary multiple osteochondromas | c0015306 | 7,941 | medlineplus | https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas/ | 2021-01-27T08:25:41 | {"gard": ["7035"], "mesh": ["D005097"], "omim": ["133700", "133701"], "synonyms": []} |
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking. Expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech), and mo... | PURA syndrome | c4015357 | 7,942 | medlineplus | https://medlineplus.gov/genetics/condition/pura-syndrome/ | 2021-01-27T08:24:33 | {"gard": ["12836"], "omim": ["616158"], "synonyms": []} |
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.
## Epidemiology
MMIHS prevalence is unknown... | Megacystis-microcolon-intestinal hypoperistalsis syndrome | c1608393 | 7,943 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2241 | 2021-01-23T18:57:17 | {"gard": ["3442"], "mesh": ["C536138"], "omim": ["249210"], "umls": ["C1608393"], "icd-10": ["Q43.8"], "synonyms": ["Berdon syndrome", "MMIHS", "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome"]} |
A number sign (#) is used with this entry because X-linked recessive nephrolithiasis with renal failure is caused by mutation in the CLCN5 gene (300008) on chromosome Xp11.22.
Description
X-linked recessive nephrolithiasis with renal failure is a form of X-linked hypercalciuric nephrolithiasis, which comprises a gr... | NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE | c1839874 | 7,944 | omim | https://www.omim.org/entry/310468 | 2019-09-22T16:17:34 | {"mesh": ["C545036"], "omim": ["310468"], "orphanet": ["1652", "93622"], "synonyms": ["Alternative titles", "NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1", "UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1", "NEPHROLITHIASIS 1"]} |
A number sign (#) is used with this entry because autosomal dominant deafness-64 (DFNA64) is caused by heterozygous mutation in the DIABLO gene (605219) on chromosome 12q24.
Clinical Features
Cheng et al. (2011) reported a large 6-generation Chinese family from Henan province with nonsyndromic sensorineural hearing... | DEAFNESS, AUTOSOMAL DOMINANT 64 | c3279948 | 7,945 | omim | https://www.omim.org/entry/614152 | 2019-09-22T15:56:26 | {"doid": ["0110585"], "omim": ["614152"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolated sensorineural heari... |
Goitre
Other namesGoiter
Diffuse hyperplasia of the thyroid
SpecialtyEndocrinology
A goitre, or goiter, is a swelling in the neck resulting from an enlarged thyroid gland.[1][2] A goitre can be associated with a thyroid that is not functioning properly.
Worldwide, over 90% of goitre cases are caused by io... | Goitre | c0018021 | 7,946 | wikipedia | https://en.wikipedia.org/wiki/Goitre | 2021-01-18T18:30:14 | {"mesh": ["D006042"], "umls": ["C0018021"], "wikidata": ["Q165135"]} |
Ovarian vein syndrome
Relation of arteries and veins to ureters, view from the back
In medicine, ovarian vein syndrome is a rare (possibly not uncommon, certainly under-diagnosed) condition in which a dilated ovarian vein compresses the ureter (the tube that brings the urine from the kidney to the bladder)... | Ovarian vein syndrome | c0348020 | 7,947 | wikipedia | https://en.wikipedia.org/wiki/Ovarian_vein_syndrome | 2021-01-18T18:53:06 | {"umls": ["C0348020"], "wikidata": ["Q7113258"]} |
Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features inc... | Oculoauriculovertebral spectrum with radial defects | c0220681 | 7,948 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2549 | 2021-01-23T18:22:20 | {"gard": ["3653"], "mesh": ["D006053"], "omim": ["141400"], "umls": ["C0220681", "C0265240"], "icd-10": ["Q75.8"], "synonyms": ["Hemifacial microsomia-radial defects syndrome", "Moeschler-Clarren syndrome"]} |
## Description
Adenomyosis is characterized by the presence of endometrial glands and stroma within the myometrium. Abnormal uterine bleeding and dysmenorrhea are the most characteristic symptoms, occurring in approximately 65% of cases (Arnold et al., 1995).
Inheritance
Emge (1962) noted a possible hereditary fa... | ADENOMYOSIS | c0341858 | 7,949 | omim | https://www.omim.org/entry/600458 | 2019-09-22T16:16:09 | {"doid": ["288"], "mesh": ["D062788"], "omim": ["600458"], "icd-9": ["617.0"], "icd-10": ["N80.0"]} |
Dyserythropoiesis
A peripheral blood smear of a patient with iron-deficiency anemia, an example of an acquired dyserythropoiesis
Dyserythropoiesis refers to the defective development of red blood cells, also called erythrocytes.[1] This problem can be congenital, acquired, or inherited.[2] Some red blood cells... | Dyserythropoiesis | c0221143 | 7,950 | wikipedia | https://en.wikipedia.org/wiki/Dyserythropoiesis | 2021-01-18T18:58:43 | {"umls": ["C0221143"], "wikidata": ["Q48998272"]} |
X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been loc... | X-linked intellectual disability, Shashi type | c1846145 | 7,951 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85286 | 2021-01-23T16:53:22 | {"gard": ["4119"], "mesh": ["C537135"], "omim": ["300238"], "icd-10": ["Q87.8"], "synonyms": ["Syndromic X-linked intellectual disability type 11"]} |
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar ... | 4H leukodystrophy | None | 7,952 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289494 | 2021-01-23T19:08:10 | {"synonyms": ["POLR-related leukodystrophy"]} |
Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.
## Epidemiology
It is a very rare condition occurring in around 1 per 150,000 live births.
## Clinical description
... | Multifocal atrial tachycardia | c0221158 | 7,953 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3282 | 2021-01-23T18:12:22 | {"gard": ["1235"], "umls": ["C0221158"], "icd-10": ["I47.1"], "synonyms": ["Chaotic atrial tachycardia", "MAT"]} |
A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes ... | Reticular dystrophy of the retinal pigment epithelium | c1867332 | 7,954 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99002 | 2021-01-23T17:13:59 | {"mesh": ["C566721"], "omim": ["179840", "267800", "617175"], "umls": ["C1867332"], "icd-10": ["H35.5"]} |
Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.
## Epidemiology
Annual incidence is estimated at 1/5,000 male births and the prevalence is estimated at 1/12,000.
## Clinical description
Hemophilia primarily affects males, but fema... | Hemophilia | c0684275 | 7,955 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=448 | 2021-01-23T18:14:32 | {"gard": ["10418"], "umls": ["C0684275"]} |
Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures), spine abnormalities, and a characteristic facial appearance. People with FSS have a small mouth (microstomia) with pursed lips... | Freeman-Sheldon syndrome | c0265224 | 7,956 | gard | https://rarediseases.info.nih.gov/diseases/6466/freeman-sheldon-syndrome | 2021-01-18T18:00:26 | {"mesh": ["C535483"], "omim": ["193700"], "umls": ["C0265224"], "orphanet": ["2053"], "synonyms": ["FSS", "Arthrogryposis distal type 2A", "Whistling face-windmill vane hand syndrome", "Craniocarpotarsal dystrophy", "Craniocarpotarsal dysplasia", "DA2A", "Distal arthrogryposis type 2A", "Freeman-Burian syndrome"]} |
Sclerotic fibroma
SpecialtyDermatology
Sclerotic fibromas[1] are a cutaneous condition characterized by well-circumscribed, dome-shaped, dermal hypocellular nodules composed predominantly of sclerotic thick collagen bundles.[2]
## See also[edit]
* Blepharochalasis
* List of cutaneous conditions
* List ... | Sclerotic fibroma | c1300346 | 7,957 | wikipedia | https://en.wikipedia.org/wiki/Sclerotic_fibroma | 2021-01-18T18:37:36 | {"wikidata": ["Q7434197"]} |
See immune response to synthetic polypeptide--IRHGAL (146950).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM... | IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRTGAL | c1840259 | 7,958 | omim | https://www.omim.org/entry/146960 | 2019-09-22T16:39:35 | {"omim": ["146960"]} |
## Clinical Features
Lammer et al. (2001) reported a malformation pattern affecting 5 of 7 sibs born to unaffected first-cousin Afghan parents. Their first 2 children died during infancy of cyanotic congenital heart defects. Two living male sibs had tetralogy of Fallot, developmental delay principally affecting lan... | TETRALOGY OF FALLOT SYNDROME, AUTOSOMAL RECESSIVE | c1854119 | 7,959 | omim | https://www.omim.org/entry/605618 | 2019-09-22T16:11:09 | {"mesh": ["C565314"], "omim": ["605618"]} |
A simulated pregnancy is a deliberate attempt to create the impression of pregnancy.[1][2][3][4]
It should not be confused with false pregnancy, where a person mistakenly believes that they are pregnant.
## Contents
* 1 Techniques
* 2 Reasons [5]
* 3 In Popular Culture
* 4 See also
* 5 References
## Tec... | Simulated pregnancy | None | 7,960 | wikipedia | https://en.wikipedia.org/wiki/Simulated_pregnancy | 2021-01-18T18:58:21 | {"wikidata": ["Q7521300"]} |
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).
Mapping
In a genomewide screen of 297 Crohn disease, ulcerative colitis, or mixed relative pairs from 174 families, of which 37% w... | INFLAMMATORY BOWEL DISEASE 16 | c2677093 | 7,961 | omim | https://www.omim.org/entry/612259 | 2019-09-22T16:02:02 | {"mesh": ["C567380"], "omim": ["612259"]} |
A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nyst... | MEPAN syndrome | c4310634 | 7,962 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508093 | 2021-01-23T18:01:22 | {"omim": ["617282"], "icd-10": ["E88.8"], "synonyms": ["Autosomal recessive childhood-onset dystonia, DYT29 type", "Childhood-onset generalized dystonia-optic atrophy syndrome", "DYT29", "Dystonia 29", "Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome"]} |
Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
## Epidemiology
About 100 cases have been reported worldwide.
## Clinic... | Glycogen storage disease due to muscle phosphofructokinase deficiency | c0017926 | 7,963 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=371 | 2021-01-23T18:31:33 | {"gard": ["5686"], "mesh": ["D006014"], "omim": ["232800"], "umls": ["C0017926"], "icd-10": ["E74.0"], "synonyms": ["GSD due to muscle phosphofructokinase deficiency", "GSD type 7", "GSD type VII", "Glycogen storage disease type 7", "Glycogen storage disease type VII", "Glycogenosis due to muscle phosphofructokinase de... |
A chronic tubulointerstitial nephropathy, which belongs, together with nephronophthisis (NPH), to a heterogeneous group of inherited tubulo-interstitial nephritis, termed NPH-MCKD complex.
## Epidemiology
Less than 60 families affected by Autosomal dominant medullary cystic kidney disease (ADMCKD) have been describ... | Autosomal dominant tubulointerstitial kidney disease | c1868139 | 7,964 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34149 | 2021-01-23T18:16:55 | {"gard": ["10801"], "mesh": ["C536137"], "omim": ["174000", "603860", "609886"], "icd-10": ["Q61.5"], "synonyms": ["ADTKD", "Autosomal dominant medullary cystic kidney disease", "MCKD"]} |
Diaphragmatic rupture
An X-ray showing a raised diaphragm on the right[1]
SpecialtyCardiothoracic surgery
SymptomsDifficulty breathing, chest pain
CausesTrauma
Diagnostic methodLaparotomy, CT scan, X-ray
TreatmentSurgery
Prognosis15–40%
Diaphragmatic rupture (also called diaphragmatic injury or tea... | Diaphragmatic rupture | c0238088 | 7,965 | wikipedia | https://en.wikipedia.org/wiki/Diaphragmatic_rupture | 2021-01-18T18:30:34 | {"icd-9": ["862.1"], "icd-10": ["S27.8"], "wikidata": ["Q243877"]} |
Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in so... | Thrombocytopenia-absent radius syndrome | c0175703 | 7,966 | medlineplus | https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome/ | 2021-01-27T08:24:45 | {"gard": ["5116"], "mesh": ["C536940"], "omim": ["274000"], "synonyms": []} |
Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.
## Epidemiology
Several families with multiple affected members (males and females) from several generations have been reported so far. Prevalence is estimated at 1 in 3 million.
## ... | Naegeli-Franceschetti-Jadassohn syndrome | c0343111 | 7,967 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69087 | 2021-01-23T18:30:08 | {"gard": ["3912"], "mesh": ["C538331"], "omim": ["161000"], "umls": ["C0343111"], "icd-10": ["Q82.4"], "synonyms": ["NFJ syndrome", "Naegeli syndrome"]} |
A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.
## Epidemiology
Takayasu arteritis (TAK) prevalence has been estimated to be 13 to 40 per million habitants. Cases have been reported w... | Takayasu arteritis | c0039263 | 7,968 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3287 | 2021-01-23T17:54:49 | {"gard": ["7730"], "mesh": ["D013625"], "omim": ["207600"], "umls": ["C0039263"], "icd-10": ["M31.4"]} |
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
The s... | Dentatorubral-pallidoluysian atrophy | c0751781 | 7,969 | medlineplus | https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy/ | 2021-01-27T08:25:25 | {"gard": ["5643"], "mesh": ["D020191"], "omim": ["125370"], "synonyms": []} |
Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus)... | Neuronal ceroid lipofuscinosis 9 | c1836841 | 7,970 | gard | https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9 | 2021-01-18T17:58:43 | {"mesh": ["C537953"], "omim": ["609055"], "umls": ["C1836841"], "orphanet": ["228357"], "synonyms": ["CLN 9"]} |
Dermatomycosis
Micrograph of a superficial dermatomycosis. The fungal organisms are the dark staining, thick, quasi-linear objects below with skin surface. Vulvar biopsy. GMS stain.
SpecialtyInfectious disease
A dermatomycosis is a skin disease caused by a fungus.[1] This excludes dermatophytosis.
Examples ... | Dermatomycosis | c0011630 | 7,971 | wikipedia | https://en.wikipedia.org/wiki/Dermatomycosis | 2021-01-18T18:51:20 | {"mesh": ["D003881"], "umls": ["C0011630"], "icd-10": ["B36", "B35"], "wikidata": ["Q3705876"]} |
Ectopic testis
SpecialtyUrology
A ectopic testis is a testicle that, although not an undescended testicle, has taken a non-standard path through the body and ended up in an unusual location.[citation needed]
The positions of the ectopic testis may be: in the lower part of the abdomen, front of thigh, femo... | Ectopic testis | c0302889 | 7,972 | wikipedia | https://en.wikipedia.org/wiki/Ectopic_testis | 2021-01-18T18:54:00 | {"icd-10": ["Q53.0"], "wikidata": ["Q3047124"]} |
Piriformis syndrome is a rare neuromuscular condition that occurs when the piriformis muscle in the buttocks presses on the sciatic nerve. The condition is primarily associated with sciatica; however, other symptoms may include tenderness, aching, tingling and/or numbness of the buttock and pain when sitting for ... | Piriformis syndrome | c0458224 | 7,973 | gard | https://rarediseases.info.nih.gov/diseases/10026/piriformis-syndrome | 2021-01-18T17:58:18 | {"mesh": ["D055958"], "synonyms": ["Hip socket neuropathy", "Pseudosciatica", "Wallet sciatica", "Deep gluteal syndrome", "Pyriformis syndrome"]} |
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and front... | Parietal foramina with clavicular hypoplasia | c1868597 | 7,974 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251290 | 2021-01-23T17:55:02 | {"mesh": ["C566825"], "omim": ["168550"], "umls": ["C1868597"], "icd-10": ["Q74.0"], "synonyms": ["Parietal foramina with cleidocranial dysplasia"]} |
For general information on malaria and the influence of genetic factors on malaria susceptibility, progression, severity, and resistance, see 611162.
Mapping
Timmann et al. (2007) identified 108 rural Ghanaian families exposed to hyperendemic malaria transmission who did not carry any classic malaria resistance gen... | PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1 | c1969647 | 7,975 | omim | https://www.omim.org/entry/611384 | 2019-09-22T16:03:21 | {"omim": ["611384"], "synonyms": ["Alternative titles", "PFFE1", "MALARIA FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1"]} |
Meningitis caused by a fungal infection
Fungal meningitis
Fungus (black) in brain tissue
SpecialtyInfectology, neurology
Fungal meningitis refers to meningitis caused by a fungal infection.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Risk factors
* 3 Diagnosis
* 4 Treatment
* 5 Progn... | Fungal meningitis | c0085438 | 7,976 | wikipedia | https://en.wikipedia.org/wiki/Fungal_meningitis | 2021-01-18T18:36:20 | {"mesh": ["D016921"], "umls": ["C0085438"], "wikidata": ["Q5509169"]} |
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphory... | Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies | None | 7,977 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2443 | 2021-01-23T17:44:13 | {"synonyms": ["Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies", "OXPHOS disease due to nDNA anomalies", "OXPHOS disease due to nuclear DNA anomalies"]} |
## Description
GVINP1, the only human ortholog of the mouse very large interferon-inducible (VLIG) genes, appears to be a pseudogene (Klamp et al., 2003).
Cloning and Expression
Klamp et al. (2003) cloned mouse Gvin1, which they called Vlig1. The predicted 2,427-amino acid protein contains canonical GTPase and GT... | GTPase, VERY LARGE INTERFERON-INDUCIBLE, PSEUDOGENE 1 | c3889637 | 7,978 | omim | https://www.omim.org/entry/616121 | 2019-09-22T15:49:56 | {"omim": ["616121"], "synonyms": ["Alternative titles", "VERY LARGE INDUCIBLE GTPase 1"]} |
High-grade prostatic intraepithelial neoplasia
Other namesProstatic intraepithelial neoplasia
Micrograph showing high-grade prostatic intraepithelial neoplasia. H&E stain.
SpecialtyUrology
High-grade prostatic intraepithelial neoplasia (HGPIN) is an abnormality of prostatic glands and believed to precede t... | High-grade prostatic intraepithelial neoplasia | c1168327 | 7,979 | wikipedia | https://en.wikipedia.org/wiki/High-grade_prostatic_intraepithelial_neoplasia | 2021-01-18T18:47:29 | {"umls": ["C1168327"], "icd-10": ["D07.5"], "wikidata": ["Q15731388"]} |
Hysterotomy abortionBackground
Abortion typeSurgical
First use<1913
Gestation2nd Trimester and Later
Usage
U.S. figures include both hysterotomy and hysterectomy.
United States<0.01% (2016)
Infobox references
Hysterotomy abortion is a surgical procedure that removes an intact fetus from the ute... | Hysterotomy abortion | None | 7,980 | wikipedia | https://en.wikipedia.org/wiki/Hysterotomy_abortion | 2021-01-18T18:44:42 | {"umls": ["C2985298"], "wikidata": ["Q5962414"]} |
Tada et al. (1963) described a 9-year-old girl with dwarfism, mental defect, cutaneous photosensitivity, and gait disturbance resembling cerebellar ataxia. The clinical features resembled Hartnup disease (234500) but the chemical findings were different. Tryptophane was excreted in the urine in excess without inc... | TRYPTOPHANURIA WITH DWARFISM | c0268473 | 7,981 | omim | https://www.omim.org/entry/276100 | 2019-09-22T16:21:28 | {"mesh": ["C562658"], "omim": ["276100"]} |
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: "Parcopresis" – news · newspapers · books · scholar · JSTOR (November 2012) (Learn how and when to remove this template ... | Parcopresis | None | 7,982 | wikipedia | https://en.wikipedia.org/wiki/Parcopresis | 2021-01-18T18:36:26 | {"wikidata": ["Q7136497"]} |
The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the five sarcoglycan genes: α, β, γ, δ or ε. The five sarcoglycanopathies are: α-sarcoglycanopathy, LGMD2D; β-sarcoglycanopathy, LGMD2E; γ-sarcoglycanopathy, LGMD2C; δ-sarcoglycanopathy, LGMD2F and ε-sarcoglycanopathy, myoclon... | Sarcoglycanopathy | c2936331 | 7,983 | wikipedia | https://en.wikipedia.org/wiki/Sarcoglycanopathy | 2021-01-18T18:56:15 | {"mesh": ["D058088"], "umls": ["C2936331"], "orphanet": ["207052"], "wikidata": ["Q7423586"]} |
Critical illness–related corticosteroid insufficiency
Other namesCIRCI
Critical illness-related corticosteroid insufficiency is a form of adrenal insufficiency in critically ill patients who have blood corticosteroid levels which are inadequate for the severe stress response they experience. Combined with dec... | Critical illness–related corticosteroid insufficiency | None | 7,984 | wikipedia | https://en.wikipedia.org/wiki/Critical_illness%E2%80%93related_corticosteroid_insufficiency | 2021-01-18T18:52:27 | {"wikidata": ["Q5186731"]} |
A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and n... | Pustulosis palmaris et plantaris | c0030246 | 7,985 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163927 | 2021-01-23T18:04:05 | {"gard": ["12820"], "mesh": ["D011565"], "umls": ["C0030246"], "icd-10": ["L40.3"], "synonyms": ["LPP", "Localized pustular psoriasis", "PPP", "Palmoplantar pustulosis"]} |
Rectovaginal fistula
Rectovaginal fistula
SpecialtyGynecology
Diagnostic method• No anal opening
• A gloved finger or thermometer cannot be inserted into the infants rectum • No history of passage of meconium • Presence of abdominal distension • Presence of meconium in urine
Rimple Sharma Essentila in Pediatr... | Rectovaginal fistula | c0034895 | 7,986 | wikipedia | https://en.wikipedia.org/wiki/Rectovaginal_fistula | 2021-01-18T19:08:52 | {"mesh": ["D012006"], "umls": ["C0034895"], "icd-9": ["619.1"], "icd-10": ["N82.3", "Q52.2"], "wikidata": ["Q3740798"]} |
Neonatal sepsis
SpecialtyPediatrics
Neonatal sepsis is a type of neonatal infection and specifically refers to the presence in a newborn baby of a bacterial blood stream infection (BSI) (such as meningitis, pneumonia, pyelonephritis, or gastroenteritis) in the setting of fever. Older textbooks may refer to... | Neonatal sepsis | c0456103 | 7,987 | wikipedia | https://en.wikipedia.org/wiki/Neonatal_sepsis | 2021-01-18T18:43:31 | {"mesh": ["D000071074"], "umls": ["C0456103"], "icd-9": ["771.81"], "icd-10": ["P36"], "wikidata": ["Q6993495"]} |
A number sign (#) is used with this entry because of evidence that spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is caused by homozygous or compound heterozygous mutation in the SLC1A4 gene (600229) on chromosome 2p14.
Description
Spastic tetraplegia, thin corpus callosum, an... | SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY | c4225254 | 7,988 | omim | https://www.omim.org/entry/616657 | 2019-09-22T15:48:20 | {"omim": ["616657"], "orphanet": ["447997"], "synonyms": ["ASCT1 deficiency", "Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"]} |
Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), ... | Male infertility with azoospermia or oligozoospermia due to single gene mutation | c1862459 | 7,989 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=399805 | 2021-01-23T18:22:27 | {"gard": ["8530"], "omim": ["108420", "258150", "270960", "305700", "309120", "613957", "615081", "615413", "615841", "615842", "616950", "617706", "617707", "617960", "618086", "618110", "618115"], "icd-10": ["N46"]} |
neurological phenomenon
This article is about the psychological phenomenon. For the album, see Sundowning (album). For other uses, see Sundowning (disambiguation).
Sundowning, or sundown syndrome,[1] is a neurological phenomenon associated with increased confusion and restlessness in patients with delirium or some ... | Sundowning | c1142436 | 7,990 | wikipedia | https://en.wikipedia.org/wiki/Sundowning | 2021-01-18T18:28:21 | {"umls": ["C1142436"], "wikidata": ["Q3916681"]} |
Frontotemporal dementia and parkinsonism linked to chromosome 17
This condition is inherited in an autosomal dominant manner.
SpecialtyNeurology
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative tauopathy and Parkinson plus syndrome.[1] ... | Frontotemporal dementia and parkinsonism linked to chromosome 17 | None | 7,991 | wikipedia | https://en.wikipedia.org/wiki/Frontotemporal_dementia_and_parkinsonism_linked_to_chromosome_17 | 2021-01-18T18:44:36 | {"icd-9": ["331.19"], "wikidata": ["Q15043641"]} |
Centrilobular necrosis refers to the necrosis of the centrilobular tissue of the hepatic lobule.[1] The centrilobular zone of the lobule is most prone to metabolic toxins such as those generated in alcoholic hepatitis. In acetaminophen overdose, glutathione depletion occurs and the highly reactive NAPQI will bind... | Centrilobular necrosis | c0267804 | 7,992 | wikipedia | https://en.wikipedia.org/wiki/Centrilobular_necrosis | 2021-01-18T18:53:20 | {"umls": ["C0267804"], "wikidata": ["Q19720556"]} |
A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
*[... | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | c4225312 | 7,993 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329336 | 2021-01-23T18:16:46 | {"omim": ["616479"], "icd-10": ["G71.3"], "synonyms": ["Adult-onset CPEO with mitochondrial myopathy"]} |
Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria. The e... | Aquagenic urticaria | c0263334 | 7,994 | gard | https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria | 2021-01-18T18:02:04 | {"mesh": ["C562481"], "synonyms": []} |
See 300221 and Horwitz and Wiernik (1999) for discussion of a putative locus for Hodgkin disease in the pseudoautosomal region.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly act... | LYMPHOMA, HODGKIN, Y-LINKED PSEUDOAUTOSOMAL | c1839076 | 7,995 | omim | https://www.omim.org/entry/400021 | 2019-09-22T16:17:01 | {"doid": ["8567"], "mesh": ["C564034"], "omim": ["400021", "236000"], "orphanet": ["391"], "synonyms": ["Classic Hodgkin disease", "Alternative titles", "HODGKIN DISEASE, Y-LINKED PSEUDOAUTOSOMAL"]} |
Chromoblastomycosis is a chronic fungal infection characterized by raised and crusted lesions which affect the skin and subcutaneous tissue. It most often occurs on the limbs, but can affect any area of the body. Chromoblastomycosis is caused by several fungi found in soil, wood, and decaying plant material. It usual... | Chromoblastomycosis | c0008582 | 7,996 | gard | https://rarediseases.info.nih.gov/diseases/1319/chromoblastomycosis | 2021-01-18T18:01:26 | {"mesh": ["D002862"], "umls": ["C0008582"], "orphanet": ["182"], "synonyms": ["Chromomycosis"]} |
For other uses, see Rumination (disambiguation).
Rumination appears closely related to worry.
Rumination is the focused attention on the symptoms of one's distress, and on its possible causes and consequences, as opposed to its solutions, according to the Response Styles Theory proposed by Nolen-Hoeksema (1998).[1]... | Rumination (psychology) | None | 7,997 | wikipedia | https://en.wikipedia.org/wiki/Rumination_(psychology) | 2021-01-18T18:37:53 | {"wikidata": ["Q1411912"]} |
A number sign (#) is used with this entry because of evidence that Muir-Torre syndrome is part of the Lynch cancer family syndrome II (see 120435), which has been related to mutation in the MSH2 gene (609309) on chromosome 2p.
MRTES can also be caused by mutation in the MLH1 gene (120436) on chromosome 3p.
Clinical... | MUIR-TORRE SYNDROME | c1321489 | 7,998 | omim | https://www.omim.org/entry/158320 | 2019-09-22T16:37:59 | {"doid": ["0050465"], "mesh": ["D055653"], "omim": ["158320"], "orphanet": ["587"], "synonyms": ["Alternative titles", "CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS"], "genereviews": ["NBK1211"]} |
human chronic inflammatory disease
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Lichen nitidus
Photography of lichen... | Lichen nitidus | c0162849 | 7,999 | wikipedia | https://en.wikipedia.org/wiki/Lichen_nitidus | 2021-01-18T19:03:58 | {"mesh": ["D017513"], "umls": ["C0162849"], "wikidata": ["Q6543200"]} |
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