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 |
|---|---|---|---|---|---|---|---|
Atrophic vaginitis
Other namesVulvovaginal atrophy,[1] vaginal atrophy,[1] genitourinary syndrome of menopause,[1] estrogen deficient vaginitis[2]
Normal vaginal mucosa (left) versus vaginal atrophy (right)
SpecialtyGynecology
SymptomsPain with sex, vaginal itchiness or dryness, an urge to urinate[1]
Compli... | Atrophic vaginitis | c0156409 | 7,800 | wikipedia | https://en.wikipedia.org/wiki/Atrophic_vaginitis | 2021-01-18T18:32:54 | {"mesh": ["D059268"], "umls": ["C0156409"], "wikidata": ["Q4007235"]} |
## Description
Reticular dystrophy is a disorder of protean manifestations occurring in the retinal pigment epithelium (RPE) with little or no involvement of the neurosensory retina. The disorder may be detected at an early age and may be slowly progressive, but the prognosis for visual acuity is good. Abnormal... | RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM | c1867332 | 7,801 | omim | https://www.omim.org/entry/179840 | 2019-09-22T16:35:18 | {"mesh": ["C566721"], "omim": ["179840"], "orphanet": ["99002"]} |
## Summary
### Clinical characteristics.
6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is defined as transient neonatal diabetes mellitus caused by genetic aberrations of the imprinted locus at 6q24. The cardinal features are: severe intrauterine growth retardation, hyperglycemia that begins in the ... | Diabetes Mellitus, 6q24-Related Transient Neonatal | c3711391 | 7,802 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1534/ | 2021-01-18T21:30:57 | {"mesh": ["C579872"], "synonyms": ["6q24-TNDM"]} |
Lupus panniculitis
Other namesLupus erythematosus profundus,[1] Lupus panniculitis,[2] "Lupus profundus",[2] and Subcutaneous lupus erythematosus[2]
SpecialtyDermatology
Not to be confused with Subacute cutaneous lupus erythematosus or Lupus erythematosus.
Lupus erythematosus panniculitis presents with subc... | Lupus erythematosus panniculitis | c0030327 | 7,803 | wikipedia | https://en.wikipedia.org/wiki/Lupus_erythematosus_panniculitis | 2021-01-18T19:08:40 | {"mesh": ["D015435"], "umls": ["C0030327"], "icd-10": ["L93.2"], "orphanet": ["90285"], "wikidata": ["Q6704853"]} |
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse ... | Curly hair-acral keratoderma-caries syndrome | c1843291 | 7,804 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=307766 | 2021-01-23T18:12:28 | {"gard": ["10163"], "mesh": ["C536220"], "omim": ["607656"], "umls": ["C1843291"], "icd-10": ["Q82.8"], "synonyms": ["CHAC syndrome", "CHACS"]} |
Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.
## Epidemiology
Progress in global poliomyelitis eradication, since its beginning in 1988, has been remarkable. In 1988, 125 countries were endemic for poliomyelitis and an estimate... | Poliomyelitis | c0032371 | 7,805 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2912 | 2021-01-23T17:05:08 | {"gard": ["7413"], "mesh": ["D011051"], "umls": ["C0032371"], "icd-10": ["A80.0", "A80.1", "A80.2", "A80.3", "A80.4", "A80.9"]} |
A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.
## Epidemiology
CDKL5-related epileptic encephalopathy has an estimated birth prevalence of 1/42,400 in the UK (Scotland). It affects predomina... | CDKL5-related epileptic encephalopathy | c1839333 | 7,806 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=505652 | 2021-01-23T18:27:09 | {"mesh": ["C564064"], "omim": ["300672"], "icd-10": ["G40.4"], "synonyms": ["CDKL5 deficiency disorder"]} |
Lower respiratory tract disease that affects the airways leading into the lungs
Bronchospasm
Inflamed airways and bronchoconstriction in asthma. Airways narrowed as a result of the inflammatory response cause wheezing.
SpecialtyPulmonology
Bronchospasm or a bronchial spasm is a sudden constriction of the mu... | Bronchospasm | c0006261 | 7,807 | wikipedia | https://en.wikipedia.org/wiki/Bronchospasm | 2021-01-18T19:01:41 | {"mesh": ["D001982", "D001986"], "umls": ["C0006261"], "icd-9": ["519.11"], "wikidata": ["Q279330"]} |
Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkin’s lymphomas (NHL). NHL's are cancers that affect the the lymphatic system (part of the immune system). In MCL, there are cancerous B-cells (a type of immune system cell). The cancerous B-cells are within a region of the lymph node know... | Mantle cell lymphoma | c0334634 | 7,808 | gard | https://rarediseases.info.nih.gov/diseases/6969/mantle-cell-lymphoma | 2021-01-18T17:59:14 | {"mesh": ["D020522"], "umls": ["C0334634"], "orphanet": ["52416"], "synonyms": ["Lymphoma, mantle cell"]} |
A number sign (#) is used with this entry because Donohue syndrome is caused by homozygous or compound heterozygous mutation in the insulin receptor gene (INSR; 147670) on chromosome 19p13.
Clinical Features
Among the children of second cousins once removed, Donohue and Uchida (1954) observed 2 sisters with the fol... | DONOHUE SYNDROME | c0265344 | 7,809 | omim | https://www.omim.org/entry/246200 | 2019-09-22T16:26:00 | {"doid": ["0050470"], "mesh": ["D056731"], "omim": ["246200"], "orphanet": ["508"], "synonyms": ["Alternative titles", "LEPRECHAUNISM"], "genereviews": ["NBK476444"]} |
Sandhoff disease is an inherited lipid storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months when their developm... | Sandhoff disease | c0036161 | 7,810 | gard | https://rarediseases.info.nih.gov/diseases/7604/sandhoff-disease | 2021-01-18T17:57:50 | {"mesh": ["D012497"], "omim": ["268800"], "orphanet": ["796"], "synonyms": ["Beta-hexosaminidase-beta-subunit deficiency", "GM2 gangliosidosis, type 2", "Total hexosaminidase deficiency", "Hexosaminidase A and B deficiency Disease", "Sandhoff-Jatzkewitz-Pilz disease"]} |
Breast hematoma
Breast hematoma is a collection of blood within the breast. It arises from internal bleeding (hemorrhage) and may arise due to trauma (breast injury or surgery) or due to a non-traumatic cause.
## Contents
* 1 Symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 R... | Breast hematoma | c0342095 | 7,811 | wikipedia | https://en.wikipedia.org/wiki/Breast_hematoma | 2021-01-18T18:37:10 | {"wikidata": ["Q25091292"]} |
Syndrome of shellfish poisoning
Karenia brevis, the primary dinoflagellate organism responsible for brevetoxin production.
Red Tide caused by dinoflagellates. Picture taken off the coast of San Diego, California.
Neurotoxic shellfish poisoning (NSP) is a term used to describe the disease caused by consumption ... | Neurotoxic shellfish poisoning | c0275147 | 7,812 | wikipedia | https://en.wikipedia.org/wiki/Neurotoxic_shellfish_poisoning | 2021-01-18T18:36:52 | {"mesh": ["D057096"], "wikidata": ["Q16978219"]} |
A number sign (#) is used with this entry because of evidence that spastic paraplegia-30 (SPG30) can be caused by homozygous mutation in the KIF1A gene (601255) on chromosome 2q37.
Mutation in the KIF1A gene can also cause hereditary sensory neuropathy type IIC (HSN2C; 614213).
For a general discussion of genet... | SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE | c1835896 | 7,813 | omim | https://www.omim.org/entry/610357 | 2019-09-22T16:04:41 | {"doid": ["0110781"], "mesh": ["C563677"], "omim": ["610357"], "orphanet": ["101010"]} |
## Clinical Features
Garcia-Cruz et al. (1990) reported 3 sisters, born of nonconsanguineous parents, with congenital glaucoma, distinctive facies (large eyes, wide forehead, thin nasal bridge, and broad nose with large tip), large ears, short neck, wide thorax, umbilicated nipples, cubitus valgus, and short big to... | IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES | c1836074 | 7,814 | omim | https://www.omim.org/entry/609515 | 2019-09-22T16:05:59 | {"mesh": ["C535534"], "omim": ["609515"]} |
Pityriasis rotunda
Other namesPityriasis circinata,[1] Tinea circinata[2]
Pityriasis rotunda is a disorder of keratisation of the skin that manifests as a perfectly circular, scaly patches on the torso and proximal portions of the extremities.[1] It may be associated with diseases like hepatocellular carcinoma... | Pityriasis rotunda | c0343060 | 7,815 | wikipedia | https://en.wikipedia.org/wiki/Pityriasis_rotunda | 2021-01-18T18:59:19 | {"gard": ["10904"], "umls": ["C0343060"], "wikidata": ["Q7199564"]} |
A number sign (#) is used with this entry because of evidence that the Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia (SMDMDM) is caused by homozygous mutation in the MAGMAS (PAM16; 614336) gene on chromosome 16p13.
Clinical Features
Megarbane et al. (2008) described a consanguineous Lebanese fami... | SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | c2750075 | 7,816 | omim | https://www.omim.org/entry/613320 | 2019-09-22T15:59:01 | {"mesh": ["C567644"], "omim": ["613320"], "orphanet": ["401979"], "synonyms": ["Alternative titles", "CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE"]} |
Sofer et al. (1983) described father and son with bilateral absence of the thumb and radius, short stature, mild external ear malformation, and renal anomaly (in the father, absent right renal kidney; in the son, crossed renal ectopia of the left kidney). The son showed a high frequency of chromosome breaks in lympho... | RADIAL-RENAL SYNDROME | c2931146 | 7,817 | omim | https://www.omim.org/entry/179280 | 2019-09-22T16:35:20 | {"mesh": ["C536267"], "omim": ["179280"], "orphanet": ["3015"]} |
A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed na... | Potocki-Shaffer syndrome | c1832588 | 7,818 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=52022 | 2021-01-23T19:10:36 | {"gard": ["9762"], "mesh": ["C538356"], "omim": ["601224"], "umls": ["C1832588"], "icd-10": ["Q93.5"], "synonyms": ["11p11.2 deletion", "Proximal 11p deletion syndrome"]} |
Pyrrolizidine alkaloidosis is a disease caused by chronic poisoning found in humans and other animals caused by ingesting poisonous plants which contain the natural chemical compounds known as pyrrolizidine alkaloids.[1] Pyrrolizidine alkaloidosis can result in damage to the liver, kidneys, heart, brain, smooth muscl... | Pyrrolizidine alkaloidosis | None | 7,819 | wikipedia | https://en.wikipedia.org/wiki/Pyrrolizidine_alkaloidosis | 2021-01-18T19:05:02 | {"wikidata": ["Q17148765"]} |
Normophosphatemic familial tumoral calcinosis
SpecialtyDermatology
Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous calcification or ossification.[1]
## See also[edit]
* Progressive systemic sclerosis
* List of cutaneous conditions
* List of genes mutated... | Normophosphatemic familial tumoral calcinosis | c1864861 | 7,820 | wikipedia | https://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis | 2021-01-18T18:48:49 | {"gard": ["10878"], "mesh": ["C566473"], "umls": ["C1864861"], "orphanet": ["306658", "53715"], "wikidata": ["Q7053148"]} |
In a Dutch family with no known consanguinity, van Engelen et al. (1992) identified a sister and 2 brothers out of a sibship of 4 who had adult-onset, predominantly distal, muscle weakness. The female proband also had epilepsy and a progressive spastic ataxic gait. Although the 2 younger brothers showed no signs ... | MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY | c1854646 | 7,821 | omim | https://www.omim.org/entry/253590 | 2019-09-22T16:24:56 | {"mesh": ["C565361"], "omim": ["253590"]} |
A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-15 with mandibulofacial dysostosis (DBA15) is caused by heterozygous mutation in the RPS28 gene (603685) on chromosome 19p13.
For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
Clinical F... | DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | c1260899 | 7,822 | omim | https://www.omim.org/entry/606164 | 2019-09-22T16:10:37 | {"mesh": ["D029503"], "omim": ["606164"], "orphanet": ["124"]} |
A number sign (#) is used with this entry because of evidence that optic atrophy-5 (OPA5) is caused by heterozygous mutation in the DNM1L gene (603850) on chromosome 12p11.
Description
OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset fr... | OPTIC ATROPHY 5 | c0338508 | 7,823 | omim | https://www.omim.org/entry/610708 | 2019-09-22T16:04:11 | {"doid": ["5723"], "mesh": ["D029241"], "omim": ["165500", "610708"], "orphanet": ["98673"], "synonyms": ["Autosomal dominant optic atrophy, Kjer type", "Kjer optic atrophy", "Optic atrophy type 1"]} |
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: "Pulmonary-to-systemic shunt" – news · newspapers · books · scholar · JSTOR (December 2009) (Learn how and when to remove this template me... | Pulmonary-to-systemic shunt | None | 7,824 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary-to-systemic_shunt | 2021-01-18T18:41:04 | {"wikidata": ["Q7259515"]} |
Gigantomastia is a rare condition characterized by excessive breast growth. It may occur spontaneously, during puberty or pregnancy, or while taking certain medications. There is no universally accepted definition of gigantomastia, but the majority of medical articles refer to a particular weight of excess breast... | Gigantomastia | c0405471 | 7,825 | gard | https://rarediseases.info.nih.gov/diseases/9450/gigantomastia | 2021-01-18T18:00:20 | {"mesh": ["C536821"], "omim": ["113670"], "orphanet": ["180176"], "synonyms": ["Juvenile gigantomastia (subtype)", "Familial juvenile gigantomastia", "Puberty-induced gigantomastia (subtype)", "Pregnancy-induced gigantomastia (subtype)", "Idiopathic gigantomastia (subtype)", "Virginal breast hypertrophy", "Macromastia"... |
Hypertrichosis cubiti
SpecialtyDermatology
Hypertrichosis cubiti (also known as "hairy elbow syndrome"[1]) is a cutaneous condition characterized by multiple terminal hairs on both elbows in children.[1]
## Contents
* 1 Causes
* 2 Diagnosis
* 3 See also
* 4 References
## Causes[edit]
One known caus... | Hypertrichosis cubiti | c4025295 | 7,826 | wikipedia | https://en.wikipedia.org/wiki/Hypertrichosis_cubiti | 2021-01-18T18:37:43 | {"gard": ["143"], "mesh": ["C535618"], "wikidata": ["Q16908675"]} |
Not to be confused with Muscardin or Muscadine.
A cockroach with muscardine caused by M. anisopliae.
Muscardine is a disease of insects. It is caused by many species of entomopathogenic fungus. Many muscardines are known for affecting silkworms.[1] Muscardine may also be called calcino.[2]
While studying musca... | Muscardine | None | 7,827 | wikipedia | https://en.wikipedia.org/wiki/Muscardine | 2021-01-18T19:08:23 | {"wikidata": ["Q3328294"]} |
A number sign (#) is used with this entry because the antigens of the Kidd blood group system are encoded by the SLC14A1 gene (613868) on chromosome 18q12.3.
Description
The Kidd blood group locus encodes a urea transporter (SLC14A1) that is expressed on human red cells and in the kidney. The Kidd blood group syste... | BLOOD GROUP, KIDD SYSTEM | None | 7,828 | omim | https://www.omim.org/entry/111000 | 2019-09-22T16:44:23 | {"omim": ["111000"], "synonyms": ["Alternative titles", "KIDD BLOOD GROUP SYSTEM"]} |
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
## Epidemiology
Spinocerebellar ataxia type 29 (SCA29) prevalence is unknown. More than 50 cases have been reported in the lite... | Spinocerebellar ataxia type 29 | c1861732 | 7,829 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=208513 | 2021-01-23T17:28:55 | {"gard": ["10480"], "mesh": ["C537206"], "omim": ["117360"], "umls": ["C1861732"], "icd-10": ["G11.0"], "synonyms": ["Congenital nonprogressive spinocerebellar ataxia", "SCA29"]} |
Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affec... | Mixed connective tissue disease | c0026272 | 7,830 | gard | https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease | 2021-01-18T17:59:01 | {"mesh": ["D008947"], "umls": ["C0026272"], "orphanet": ["809"], "synonyms": ["MCTD", "Sharp syndrome"]} |
A number sign (#) is used with this entry because of evidence that nonphotosensitive trichothiodystrophy-5 (TTD5) is caused by mutation in the RNF113A gene (300951) on chromosome Xq24. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystr... | TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE | c1955934 | 7,831 | omim | https://www.omim.org/entry/300953 | 2019-09-22T16:19:14 | {"mesh": ["D054463"], "omim": ["300953"], "orphanet": ["33364"]} |
Legionellosis that is characterized by severe form of infection producing pneumonia
Legionnaires' disease
Other namesLegionellosis,[1] legion fever
Chest X-ray of a severe case of legionellosis upon admission to the emergency department.
SpecialtyInfectious disease, pulmonology
SymptomsCough, shortness of br... | Legionnaires' disease | c0023241 | 7,832 | wikipedia | https://en.wikipedia.org/wiki/Legionnaires%27_disease | 2021-01-18T18:57:19 | {"gard": ["6876"], "mesh": ["D007877"], "umls": ["C0023241"], "orphanet": ["549"], "wikidata": ["Q154882"]} |
A number sign (#) is used with this entry because hypogonadotropic hypogonadism-7 with or without anosmia (HH7) is caused by homozygous or compound heterozygous mutation in the GNRHR gene (138850) on chromosome 4q13, sometimes in association with mutation in another gene, e.g., FGFR1 (136350).
Description
Congenita... | HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA | c0342384 | 7,833 | omim | https://www.omim.org/entry/146110 | 2019-09-22T16:39:46 | {"doid": ["0090078"], "mesh": ["C562785"], "omim": ["146110"], "orphanet": ["432"], "synonyms": ["Gonadotropic deficiency", "HYPOGONADISM, ISOLATED HYPOGONADOTROPIC", "IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM", "Isolated congenital gonadotropin deficiency", "Alternative titles", "Normosmic idiopathic hypogonadotropic h... |
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be chall... | Disfigurement | c1707791 | 7,834 | wikipedia | https://en.wikipedia.org/wiki/Disfigurement | 2021-01-18T19:00:54 | {"umls": ["C1707791"], "wikidata": ["Q3043172"]} |
A number sign (#) is used with this entry because of evidence that vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) is caused by heterozygous mutation in the TBX2 gene (600747) on chromosome 17q23.
Description
Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome ch... | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | None | 7,835 | omim | https://www.omim.org/entry/618223 | 2019-09-22T15:43:03 | {"omim": ["618223"]} |
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body, including the fingers and toes, teeth, nervous system, and immune system. The severity of this condition varies among affected individuals, although it is often life-threatening due to the heart problems.... | Timothy syndrome | c1832916 | 7,836 | medlineplus | https://medlineplus.gov/genetics/condition/timothy-syndrome/ | 2021-01-27T08:24:47 | {"gard": ["9294"], "mesh": ["C536962"], "omim": ["601005"], "synonyms": []} |
A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.
## Epidemiology
Prevalence is unknown but Jeavons syndrome appears to represent around 7-8% of all idioph... | Jeavons syndrome | c4274731 | 7,837 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139431 | 2021-01-23T18:51:23 | {"icd-10": ["G40.3"], "synonyms": ["EMEA", "Eyelid myoclonia with and without absences"]} |
## Clinical Features
Nievergelt syndrome is characterized by specific deformities of the radius, ulna, tibia, and fibula. Radioulnar synostosis and a typical rhomboid shape of the tibia and fibula are observed. Nievergelt (1944) reported an affected man who transmitted the syndrome to 3 sons, each by a different wi... | NIEVERGELT SYNDROME | c0432231 | 7,838 | omim | https://www.omim.org/entry/163400 | 2019-09-22T16:37:22 | {"mesh": ["C536120"], "omim": ["163400"], "orphanet": ["2633"], "synonyms": ["Alternative titles", "MESOMELIC DYSPLASIA, NIEVERGELT TYPE"]} |
Re-entry ventricular arrhythmia
SpecialtyCardiology
Re-entry ventricular arrhythmia is a type of paroxysmal tachycardia occurring in the ventricle where the cause of the arrhythmia is due to the electric signal not completing the normal circuit, but rather an alternative circuit looping back upon itself.[1] T... | Re-entry ventricular arrhythmia | c0349069 | 7,839 | wikipedia | https://en.wikipedia.org/wiki/Re-entry_ventricular_arrhythmia | 2021-01-18T18:58:35 | {"icd-10": ["I47.0"], "wikidata": ["Q7299957"]} |
A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.
## Epidemiology
The prevalence is unknown. One popula... | Alexander disease | c0270726 | 7,840 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=58 | 2021-01-23T17:56:07 | {"gard": ["5774"], "mesh": ["D038261"], "omim": ["203450"], "umls": ["C0270726"], "icd-10": ["E75.2"], "synonyms": ["AxD"]} |
Lepromatous leprosy
Leonine facies in lepromatous leprosy
SpecialtyInfectious disease
Lepromatous leprosy is a form of leprosy characterized by pale macules in the skin.[1]:346
It results from the failure of Th1 cell activation which is necessary to eradicate the mycobacteria (Th1 response is required to ac... | Lepromatous leprosy | c0023348 | 7,841 | wikipedia | https://en.wikipedia.org/wiki/Lepromatous_leprosy | 2021-01-18T18:49:45 | {"mesh": ["D015440"], "umls": ["C0023348"], "wikidata": ["Q6527832"]} |
A number sign (#) is used with this entry because very long-chain acyl-CoA dehydrogenase deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding very long-chain acyl-CoA dehydrogenase (ACADVL; 609575) on chromosome 17p13.
Description
Inborn errors of mitochondrial fatty acid be... | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF | c3887523 | 7,842 | omim | https://www.omim.org/entry/201475 | 2019-09-22T16:31:27 | {"doid": ["0080155"], "mesh": ["C536353"], "omim": ["201475"], "orphanet": ["26793"], "synonyms": ["Alternative titles", "VLCAD DEFICIENCY"], "genereviews": ["NBK6816"]} |
Tonsil cancer that has material basis in squamous cells
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. (October 2016)
Tonsil carcinoma
SpecialtyOncology
Carcinoma of the tonsil is a type of squ... | Tonsil carcinoma | c0558355 | 7,843 | wikipedia | https://en.wikipedia.org/wiki/Tonsil_carcinoma | 2021-01-18T19:06:04 | {"umls": ["C0558355"], "wikidata": ["Q18553563"]} |
A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peri... | T-cell immunodeficiency with epidermodysplasia verruciformis | None | 7,844 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324294 | 2021-01-23T17:50:41 | {"omim": ["618307"], "icd-10": ["D84.8"], "synonyms": ["T-cell immunodeficiency due to RHOH deficiency"]} |
## Clinical Features
Somech et al. (2008) described 2 sisters, born of first-cousin parents of Sri Lankan descent, who presented in infancy with immunodeficiency, gonadal dysgenesis, and fatal pulmonary fibrosis. The infants displayed no dysmorphic features. Immune studies demonstrated combined humoral and cellular... | IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS | c3150156 | 7,845 | omim | https://www.omim.org/entry/611926 | 2019-09-22T16:02:37 | {"omim": ["611926"], "orphanet": ["137631"], "synonyms": []} |
Shingles (also known as herpes zoster) results from infection by the varicella zoster virus. This common virus causes chickenpox (also known as varicella), which is characterized by itchy spots on the skin that cover the whole body and usually occurs in childhood or adolescence. After the body fights the initial infe... | Shingles | c0019360 | 7,846 | medlineplus | https://medlineplus.gov/genetics/condition/shingles/ | 2021-01-27T08:24:49 | {"gard": ["7525"], "mesh": ["D006562"], "synonyms": []} |
## Summary
### Clinical characteristics.
SPTBN4 disorder is typically characterized by severe-to-profound developmental delay and/or intellectual disability, although two individuals in one family had a milder phenotype, including one individual with normal cognitive development. Speech and language skills are ofte... | SPTBN4 Disorder | c0442874 | 7,847 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK559435/ | 2021-01-18T20:58:31 | {"synonyms": ["Neurodevelopmental Disorder with Hypotonia", "Neuropathy", "and Deafness (NEDHND)"]} |
Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. It have two forms of presentation, a classic form that... | Congenital central hypoventilation syndrome | c1275808 | 7,848 | gard | https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome | 2021-01-18T18:01:11 | {"mesh": ["C536209"], "omim": ["209880"], "orphanet": ["661"], "synonyms": ["CCHS", "Idiopathic congenital central alveolar hypoventilation", "Congenital failure of autonomic control", "Primary alveolar hypoventilation", "Congenital Ondine curse", "Ondine's curse (formerly)", "Ondine curse (formerly)"]} |
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.
## Epidemiology
The prevalence of BSMA is 1/30,000 male births. The incidence is 1/526,315 males/year.
## Clinical description
Disease onset ... | Kennedy disease | c0752353 | 7,849 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=481 | 2021-01-23T18:34:45 | {"gard": ["6818"], "omim": ["313200"], "umls": ["C0393547", "C0752353", "C1839259"], "icd-10": ["G12.2"], "synonyms": ["SBMA", "SMAX1", "X-linked BSMA", "X-linked bulbospinal amyotrophy", "X-linked bulbospinal muscular atrophy", "X-linked spinal and bulbar muscular atrophy"]} |
Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia),... | Progeroid syndrome, Petty type | c2931653 | 7,850 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2963 | 2021-01-23T18:11:01 | {"gard": ["4497"], "mesh": ["C537886"], "omim": ["612289"], "umls": ["C2931653"], "icd-10": ["E34.8"], "synonyms": ["Fontaine progeroid syndrome", "Petty syndrome", "Petty-Laxova-Wiedemann syndrome"]} |
Hajdu–Cheney syndrome
Other namesAcrodentoosteodysplasia, Arthrodentoosteodysplasia
Hajdu-Cheney
SpecialtyRheumatology, medical genetics
Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome,[1] is an extremely r... | Hajdu–Cheney syndrome | c0917990 | 7,851 | wikipedia | https://en.wikipedia.org/wiki/Hajdu%E2%80%93Cheney_syndrome | 2021-01-18T18:43:31 | {"gard": ["508"], "mesh": ["D030981", "D031845"], "umls": ["C0917990", "C0917715"], "orphanet": ["955"], "wikidata": ["Q632228"]} |
Bálint's syndrome
Other namesBalint-Holmes syndrome, Optic ataxia-gaze apraxia-simultanagnosia syndrome
SpecialtyNeurology
Bálint's syndrome is an uncommon and incompletely understood triad of severe neuropsychological impairments: inability to perceive the visual field as a whole (simultanagnosia), diff... | Bálint's syndrome | c0270706 | 7,852 | wikipedia | https://en.wikipedia.org/wiki/B%C3%A1lint%27s_syndrome | 2021-01-18T18:55:36 | {"umls": ["C0270706"], "icd-9": ["368.16"], "orphanet": ["363746"], "wikidata": ["Q174651"]} |
Diastasis recti
Other namesAbdominal separation
Diastasis recti in an infant
SpecialtyPediatrics
Diastasis recti, or rectus abdominis diastasis, is defined as a gap of about 2.7 cm or greater between the two sides of the rectus abdominis muscle.[1] The distance between the right and left rectus abdomin... | Diastasis recti | c0221766 | 7,853 | wikipedia | https://en.wikipedia.org/wiki/Diastasis_recti | 2021-01-18T18:39:30 | {"icd-9": ["728.84"], "icd-10": ["M62.0"], "wikidata": ["Q638370"]} |
Part of a series on
Reading
Learning to read
* Learning to read
Scientific Theories & Models
* Dual route theory
* Simple view of reading
Cognitive processes
* Comprehension
* Phonemic awareness
* Phonological awareness
* Subvocalization
* Word recognition
Reading in... | Hyperlexia | c1855928 | 7,854 | wikipedia | https://en.wikipedia.org/wiki/Hyperlexia | 2021-01-18T19:09:21 | {"mesh": ["C565500"], "umls": ["C1855928"], "wikidata": ["Q776660"]} |
The features of this syndrome, which resembles the Bardet-Biedl syndrome (209900), are iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly. The 3 brothers described by Blumel and Kniker (1959) as having the Laurence-Moon-Bardet-Biedl syndrome may have had this condition. Hydrocep... | BIEMOND SYNDROME II | c1859487 | 7,855 | omim | https://www.omim.org/entry/210350 | 2019-09-22T16:30:35 | {"mesh": ["C565902"], "omim": ["210350"], "orphanet": ["141333"]} |
Visual release hallucinations
Other namesCharles Bonnet syndrome (CBS)
SpecialtyPsychiatry, Ophthalmology
Visual release hallucinations, also known as Charles Bonnet syndrome or CBS, are a type of psychophysical visual disturbance and the experience of complex visual hallucinations in a person with partial o... | Visual release hallucinations | c0339731 | 7,856 | wikipedia | https://en.wikipedia.org/wiki/Visual_release_hallucinations | 2021-01-18T18:44:10 | {"gard": ["10343"], "mesh": ["D000075562"], "umls": ["C0339731"], "wikidata": ["Q921907"]} |
Open fracture
Gustilo Type 2 fracture
SpecialtyOrthopedics
An open fracture, also called a compound fracture, is a type of bone fracture in orthopedics that is frequently caused by high energy trauma. It is a bone fracture associated with a break in the skin continuity which can cause complications such ... | Open fracture | c0016662 | 7,857 | wikipedia | https://en.wikipedia.org/wiki/Open_fracture | 2021-01-18T19:04:30 | {"mesh": ["D005597"], "wikidata": ["Q3080304"]} |
Not to be confused with insomnia.
Chronic mismatch between a person's normal daily rhythm, compared to other people and societal norms
Delayed sleep phase disorder
Other namesDelayed sleep–wake phase disorder, delayed sleep phase syndrome, delayed sleep phase type
Comparison of standard (green) and DSPD (bl... | Delayed sleep phase disorder | None | 7,858 | wikipedia | https://en.wikipedia.org/wiki/Delayed_sleep_phase_disorder | 2021-01-18T18:55:30 | {"icd-9": ["327.31"], "icd-10": ["G47.2"], "wikidata": ["Q1470530"]} |
Abortion in Vanuatu is severely restricted by criminal law.[1] Abortion is illegal under the provisions of section 117 of the Vanuatu Penal Code, Act No. 17 or 7 August 1981.[2] The code states that any woman who intentionally induces a miscarriage is subject to up to two years' imprisonment.[1] Abortion is illeg... | Abortion in Vanuatu | None | 7,859 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Vanuatu | 2021-01-18T18:46:49 | {"wikidata": ["Q19568869"]} |
This article needs attention from an expert on the subject. Please add a reason or a talk parameter to this template to explain the issue with the article.
When placing this tag, consider associating this request with a WikiProject. (August 2018)
HIV drug resistance occurs when microevolution causes virion... | HIV drug resistance | None | 7,860 | wikipedia | https://en.wikipedia.org/wiki/HIV_drug_resistance | 2021-01-18T19:05:37 | {"wikidata": ["Q5629934"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of neural tube defects, see 182940 and 601634.
Inheritance
Toriello et al. (1980) observed either anencephaly or spina bifida in 5 males in 5 different sibships spanning 4 generations genealogically connected through females.
Barait... | NEURAL TUBE DEFECTS, X-LINKED | c0080178 | 7,861 | omim | https://www.omim.org/entry/301410 | 2019-09-22T16:18:47 | {"doid": ["0080074"], "mesh": ["D016135"], "omim": ["301410"], "orphanet": ["823", "268357"]} |
A number sign (#) is used with this entry because of evidence that this form of type A1 brachydactyly (BDA1C) is caused by homozygous mutation in the GDF5 gene (601146) on chromosome 20q11. A milder form of BDA1C is caused by heterozygous mutation in this gene.
Mutation in the GDF5 gene has also been reported to cau... | BRACHYDACTYLY, TYPE A1, C | c1862151 | 7,862 | omim | https://www.omim.org/entry/615072 | 2019-09-22T15:53:15 | {"doid": ["0110977"], "mesh": ["C537088"], "omim": ["615072"], "orphanet": ["93388"]} |
For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (602081).
The SLI Consortium (2002) compiled 98 families drawn from epidemiologic and clinical populations, all with probands whose standard language scores fell 1.5 standard deviations or more below the ... | SPECIFIC LANGUAGE IMPAIRMENT 2 | c1847605 | 7,863 | omim | https://www.omim.org/entry/606712 | 2019-09-22T16:10:05 | {"omim": ["606712"], "synonyms": ["Alternative titles", "SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19"]} |
Lymphatic filariasis
Other namesElephantiasis tropica,[1] elephantiasis arabum[1]
Bellevue Venus; Oscar G. Mason's portrait of a woman with elephantiasis.
SpecialtyInfectious disease
SymptomsNone, severe swelling of the arms, legs, breasts, or genitals[2]
CausesFilarial worms spread by mosquitos[3]
Diagno... | Lymphatic filariasis | c0013884 | 7,864 | wikipedia | https://en.wikipedia.org/wiki/Lymphatic_filariasis | 2021-01-18T18:58:49 | {"gard": ["3321"], "mesh": ["D004605"], "umls": ["C0013884"], "icd-9": ["457.1", "125.9"], "orphanet": ["2035"], "wikidata": ["Q192100"]} |
Eosinophilic ulcer of the oral mucosa
Other namesEosinophilic ulcer of the tongue,[1] Riga–Fede disease,[1]
Eosinophilic ulcer of the oral mucosa – H&E stain
Eosinophilic ulcer of the oral mucosa (also known as traumatic eosinophilic granuloma[1]) is a condition characterized by an ulcer with an indurate... | Eosinophilic ulcer of the oral mucosa | None | 7,865 | wikipedia | https://en.wikipedia.org/wiki/Eosinophilic_ulcer_of_the_oral_mucosa | 2021-01-18T19:05:37 | {"wikidata": ["Q5381907"]} |
Pure autonomic failure
Other namesBradbury-Eggleston syndrome, idiopathic orthostatic hypotension
SpecialtyNeurology
Symptomsprimarily the same as orthostatic hypotension
Complicationsprimarily the same as orthostatic hypotension; can convert to synucleinopathy
Differential diagnosispresence of central ... | Pure autonomic failure | c0393911 | 7,866 | wikipedia | https://en.wikipedia.org/wiki/Pure_autonomic_failure | 2021-01-18T18:56:34 | {"gard": ["10428"], "mesh": ["D054970"], "umls": ["C0393911", "C2931939"], "orphanet": ["441"], "wikidata": ["Q896883"]} |
A number sign (#) is used with this entry because Witkop syndrome is caused by heterozygous mutation in the MSX1 gene (142983) on chromosome 4p16.
Description
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, na... | WITKOP SYNDROME | c0406716 | 7,867 | omim | https://www.omim.org/entry/189500 | 2019-09-22T16:32:28 | {"doid": ["6678"], "omim": ["189500"], "orphanet": ["2228"], "synonyms": ["Alternative titles", "ECTODERMAL DYSPLASIA 3, WITKOP TYPE", "ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE", "NAIL DYSPLASIA WITH HYPODONTIA", "TOOTH-AND-NAIL SYNDROME"]} |
Generalized pustular psoriasis
SpecialtyDermatology
Generalized pustular psoriasis (GPP) is an extremely rare type of psoriasis that can present in a variety of forms. Unlike the most general and common forms of psoriasis, GPP usually covers the entire body and with pus-filled blisters rather than plaques. GPP... | Generalized pustular psoriasis | c0343055 | 7,868 | wikipedia | https://en.wikipedia.org/wiki/Generalized_pustular_psoriasis | 2021-01-18T19:02:30 | {"gard": ["12819"], "umls": ["C0343055"], "icd-10": ["L40.1"], "orphanet": ["247353", "404546"], "wikidata": ["Q5532501"]} |
Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with so... | Congenital radioulnar synostosis | c0158761 | 7,869 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3269 | 2021-01-23T17:59:59 | {"gard": ["10876"], "mesh": ["C562408"], "omim": ["179300"], "umls": ["C0158761", "C0431795"], "icd-10": ["Q74.0"], "synonyms": ["Radioulnar fusion"]} |
The harm caused to a patient's lungs by high gas flows as delivered by mechanical ventilation
A Neonatal mechanical ventilator. High gas flows are often used in neonatal ventilation which carries the risk of rheotrauma.
Rheotrauma is a medical term for the harm caused to a patient's lungs by high gas flows as deliv... | Rheotrauma | None | 7,870 | wikipedia | https://en.wikipedia.org/wiki/Rheotrauma | 2021-01-18T18:30:39 | {"wikidata": ["Q48844398"]} |
A number sign (#) is used with this entry because glycogen storage disease II (GSD2) is caused by homozygous or compound heterozygous mutation in the GAA gene (606800), which encodes acid alpha-1,4-glucosidase, also known as acid maltase, on chromosome 17q25.
Description
Glycogen storage disease II, an autosoma... | GLYCOGEN STORAGE DISEASE II | c0017921 | 7,871 | omim | https://www.omim.org/entry/232300 | 2019-09-22T16:27:27 | {"doid": ["2752"], "mesh": ["D006009"], "omim": ["232300"], "icd-10": ["E74.02"], "orphanet": ["365"], "synonyms": ["Alternative titles", "GSD II", "GAA DEFICIENCY", "POMPE DISEASE", "GLYCOGENOSIS, GENERALIZED, CARDIAC FORM", "CARDIOMEGALIA GLYCOGENICA DIFFUSA", "ACID MALTASE DEFICIENCY", "ALPHA-1,4-GLUCOSIDASE DEFICIE... |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-33 (SPGF33) is caused by homozygous or compound heterozygous mutation in the WDR66 gene (618146) on chromosome 12q24.
Description
Spermatogenic failure-33 is characterized by multiple morphologic abnormalities of the flagella (... | SPERMATOGENIC FAILURE 33 | None | 7,872 | omim | https://www.omim.org/entry/618152 | 2019-09-22T15:43:21 | {"omim": ["618152"], "orphanet": ["276234"], "synonyms": ["Non-syndromic male infertility due asthenozoospermia"]} |
Not to be confused with Brown-Séquard syndrome.
Bernard-Soulier syndrome
Other namesHemorrhagiparous thrombocytic dystrophy[1]
Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance (rarely autosomal dominant)[2]
SpecialtyHematology
CausesMutations in GP1BA, GP1BB and GP9[3]
Diagnostic ... | Bernard–Soulier syndrome | c0005129 | 7,873 | wikipedia | https://en.wikipedia.org/wiki/Bernard%E2%80%93Soulier_syndrome | 2021-01-18T18:37:33 | {"gard": ["2470"], "mesh": ["D001606"], "umls": ["C0005129"], "icd-9": ["287.1"], "icd-10": ["D69.1"], "orphanet": ["274"], "wikidata": ["Q822228"]} |
A number sign (#) is used with this entry because pyruvate dehydrogenase E1-beta deficiency is caused by homozygous mutation in the PDHB gene (179060) on chromosome 3p14.
For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase deficiency, see 312170.
Clinical Fea... | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY | c0034345 | 7,874 | omim | https://www.omim.org/entry/614111 | 2019-09-22T15:56:26 | {"doid": ["3649"], "mesh": ["D015325"], "omim": ["614111"], "orphanet": ["765", "255138"]} |
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompens... | Multiple acyl-CoA dehydrogenase deficiency | c0268596 | 7,875 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=26791 | 2021-01-23T18:35:39 | {"gard": ["6523"], "mesh": ["D054069"], "omim": ["231680"], "umls": ["C0268596", "C2931346"], "icd-10": ["E71.3"], "synonyms": ["Glutaric acidemia type 2", "Glutaric aciduria type 2", "MAD deficiency", "MADD"]} |
Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asy... | Osteofibrous dysplasia | c4085248 | 7,876 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=488265 | 2021-01-23T18:17:29 | {"omim": ["607278"], "synonyms": ["OFD"]} |
The inability to smell
Anosmia
Other namesLoss of smell, smell blindness,[1] odor blindness
Inflamed nasal mucosa causing anosmia
Pronunciation
* /ænˈɒzmiə/
SpecialtyOtorhinolaryngology
TypesPartial, total[2]
Anosmia, also known as smell blindness, is the loss of the ability to detect one or m... | Anosmia | c0003126 | 7,877 | wikipedia | https://en.wikipedia.org/wiki/Anosmia | 2021-01-18T18:31:35 | {"mesh": ["D000857"], "icd-9": ["781.1"], "icd-10": ["R43.0"], "wikidata": ["Q468433"]} |
Exstrophy-epispadias complex (EEC) refers to a spectrum of birth defects that includes epispadias, classical bladder exstrophy, and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. In normal development, the cloacal membrane tem... | Exstrophy-epispadias complex | c1838703 | 7,878 | gard | https://rarediseases.info.nih.gov/diseases/2207/exstrophy-epispadias-complex | 2021-01-18T18:00:38 | {"mesh": ["C564009"], "orphanet": ["322"], "synonyms": ["BEEC", "Bladder exstrophy-epispadias-cloacal extrophy complex", "EEC"]} |
## Clinical Features
Viljoen and Smart (1993) described a woman with mental retardation, borderline microcephaly, microphthalmia, prognathism, cleft lip and palate, ectrodactyly of the feet, and premature aging of the skin. Her karyotype showed a de novo translocation 46,XX,t(6;13)(q21;q12).
Suthers and Morris (19... | MICROPHTHALMIA, SYNDROMIC 8 | c1832440 | 7,879 | omim | https://www.omim.org/entry/601349 | 2019-09-22T16:14:59 | {"mesh": ["C537686"], "omim": ["601349"], "orphanet": ["3434"], "synonyms": ["Alternative titles", "MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM"]} |
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.
## Epidemiology
FFDD1 has been reported in over 80 cases including three large multi-generational families (German, English, Australian... | Focal facial dermal dysplasia type I | c1744559 | 7,880 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79133 | 2021-01-23T18:50:29 | {"gard": ["8416"], "mesh": ["C537068", "C536385"], "omim": ["136500"], "umls": ["C1744559", "C2936827"], "icd-10": ["Q82.8"], "synonyms": ["Bitemporal aplasia cutis congenita", "Brauer syndrome", "FFDD type I", "FFDD1", "Focal facial dermal dysplasia 1, Brauer type", "Focal facial dermal dysplasia type 1"]} |
Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic co... | Tuberculosis | c0041296 | 7,881 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3389 | 2021-01-23T17:15:18 | {"gard": ["7827"], "mesh": ["D014376"], "omim": ["607948"], "umls": ["C0041296"], "icd-10": ["A16.9"]} |
A number sign (#) is used with this entry because of evidence that keratosis pilaris atrophicans (KPA) is caused by homozygous mutation in the LRP1 gene (107770) on chromosome 12q13. One such family has been reported.
Description
Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characte... | KERATOSIS PILARIS ATROPHICANS | c0263429 | 7,882 | omim | https://www.omim.org/entry/604093 | 2019-09-22T16:12:30 | {"mesh": ["C537412"], "omim": ["604093"], "orphanet": ["79100", "2340", "3406"]} |
Abortion in Minnesota is legal. 52% of Minnesota adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.
## Contents
* 1 Background
* 2 Terminology
* 3 Context
* 4 History
* 4.1 Legislative history
* 4.2 Judicial history
* 4.3 Clinic history
* 5 Sta... | Abortion in Minnesota | None | 7,883 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Minnesota | 2021-01-18T18:39:00 | {"wikidata": ["Q64876928"]} |
Paralexia is a reduction in reading ability characterized by the transposition or supplementation of words or syllables. It usually is an acquired condition associated with brain injury such as alexia or acquired dyslexia, for example, as the result of a stroke.[1][2][3][4]
There are several types of paralexias ... | Paralexia | None | 7,884 | wikipedia | https://en.wikipedia.org/wiki/Paralexia | 2021-01-18T18:39:03 | {"wikidata": ["Q2051550"]} |
A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as ... | Hantavirus pulmonary syndrome | c0243025 | 7,885 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319247 | 2021-01-23T18:30:51 | {"gard": ["69"], "mesh": ["D018804"], "umls": ["C0243025"], "icd-10": ["B33.4+", "J17.1*"]} |
A number sign (#) is used with this entry because adult-onset type II citrullinemia, also known as citrin deficiency, is caused by homozygous or compound heterozygous mutation in the SLC25A13 gene (603859) on chromosome 7q21.
Neonatal-onset type II citrullinemia (605814) is caused by mutation in the same gene.
Clas... | CITRULLINEMIA, TYPE II, ADULT-ONSET | c1863844 | 7,886 | omim | https://www.omim.org/entry/603471 | 2019-09-22T16:13:02 | {"doid": ["9273"], "mesh": ["C538053"], "omim": ["603471"], "orphanet": ["247585"], "synonyms": ["Alternative titles", "CITRIN DEFICIENCY"], "genereviews": ["NBK1181"]} |
## Description
Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental fac... | SCLERODERMA, FAMILIAL PROGRESSIVE | c0036421 | 7,887 | omim | https://www.omim.org/entry/181750 | 2019-09-22T16:34:54 | {"doid": ["418"], "mesh": ["D012595"], "omim": ["181750"], "icd-10": ["M34.1"], "orphanet": ["90291", "90290"], "synonyms": ["Alternative titles", "SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO"]} |
A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination ... | Duane retraction syndrome with congenital deafness | c4310752 | 7,888 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=529574 | 2021-01-23T17:53:49 | {"omim": ["617041"], "synonyms": ["DRS with deafness", "DRS with hearing loss", "DURS with deafness", "DURS with hearing loss", "Duane retraction syndrome with congenital hearing loss"]} |
Exercise-induced collapse (EIC) is a genetic disorder that causes dogs of certain breeds to collapse after a period of intense exercise. The breeds affected are primarily sporting dogs (retrievers, spaniels).
## Contents
* 1 Description
* 2 Symptoms and diagnosis
* 3 Research
* 4 Testing
* 5 Other collaps... | Exercise-induced collapse | None | 7,889 | wikipedia | https://en.wikipedia.org/wiki/Exercise-induced_collapse | 2021-01-18T19:02:42 | {"wikidata": ["Q1383693"]} |
Acne aestivalis
Other namesMallorca acne
SpecialtyDermatology
Acne aestivalis also known as acne mallorca, is a special kind of polymorphous light eruption induced by ultra violet A radiation. This condition is said to be seasonal, usually affecting people in the spring time and goes away in the fall time wh... | Acne aestivalis | c0263459 | 7,890 | wikipedia | https://en.wikipedia.org/wiki/Acne_aestivalis | 2021-01-18T18:32:05 | {"umls": ["C0263459"], "icd-9": ["692.72"], "icd-10": ["L56.4"], "wikidata": ["Q341986"]} |
A number sign (#) is used with this entry because of evidence that a mild variant of maple syrup urine disease (MSUDMV) is caused by homozygous mutation in the PPM1K gene (611065) on chromosome 4q22. One such family has been reported.
Description
The mild variant of MSUD is characterized by increased plasma lev... | MAPLE SYRUP URINE DISEASE, MILD VARIANT | c0024776 | 7,891 | omim | https://www.omim.org/entry/615135 | 2019-09-22T15:53:11 | {"doid": ["9269"], "mesh": ["D008375"], "omim": ["615135"], "orphanet": ["511", "268162"]} |
Thrombophilia
An ultrasound image demonstrating a blood clot in the left common femoral vein.
SpecialtyHematology
3D Medical animation still explaining the Thrombophilia
Thrombophilia (sometimes called hypercoagulability or a prothrombotic state) is an abnormality of blood coagulation that increases the ris... | Thrombophilia | c3160733 | 7,892 | wikipedia | https://en.wikipedia.org/wiki/Thrombophilia | 2021-01-18T19:06:59 | {"mesh": ["D019851"], "umls": ["C3160733", "C0398623"], "icd-9": ["286.9"], "wikidata": ["Q1570013"]} |
Carcinoma ex pleomorphic adenoma
Micrograph of a carcinoma ex pleomorphic adenoma. The carcinoma component is on the lower right of the image. Benign parotid gland is seen at the left and pleomorphic adenoma is seen at the upper right. H&E stain.
SpecialtyOncology
Carcinoma ex pleomorphic adenoma (ca ex ... | Carcinoma ex pleomorphic adenoma | c0344460 | 7,893 | wikipedia | https://en.wikipedia.org/wiki/Carcinoma_ex_pleomorphic_adenoma | 2021-01-18T18:55:31 | {"wikidata": ["Q5038165"]} |
Drug-resistant epilepsy (DRE), also known as refractory epilepsy or pharmacoresistant epilepsy, is defined as failure of adequate trials of two tolerated and appropriately chosen and used antiepileptic drugs (AED schedules) (whether as monotherapies or in combination) to achieve sustained seizure freedom.[1][2] T... | Management of drug-resistant epilepsy | c1096063 | 7,894 | wikipedia | https://en.wikipedia.org/wiki/Management_of_drug-resistant_epilepsy | 2021-01-18T19:03:04 | {"mesh": ["D000069279"], "wikidata": ["Q18975053"]} |
Shoulder problem
Diagram of the human shoulder joint
SpecialtyOrthopedic surgery
Shoulder problems including pain, are one of the more common reasons for physician visits for musculoskeletal symptoms. The shoulder is the most movable joint in the body. However, it is an unstable joint because of the range of... | Shoulder problem | c4277656 | 7,895 | wikipedia | https://en.wikipedia.org/wiki/Shoulder_problem | 2021-01-18T18:58:28 | {"mesh": ["D000070599"], "icd-10": ["M75"], "wikidata": ["Q7502714"]} |
urge to continuously gamble despite harmful negative consequences or a desire to stop
Problem gambling
Other namesLudomania, degenerate gambling, gambling addiction, compulsive gambling, gambling disorder
SpecialtyPsychiatry, clinical psychology
SymptomsSpending a lot of money and time in casino/sports bet... | Problem gambling | c0030662 | 7,896 | wikipedia | https://en.wikipedia.org/wiki/Problem_gambling | 2021-01-18T19:06:34 | {"mesh": ["D005715"], "umls": ["C0030662"], "wikidata": ["Q748309"]} |
Rare genetic disorder involving calcification of the basal ganglia
Primary familial brain calcification
Other namesFamilial idiopathic basal ganglia calcification
CT scan of characteristic calcifications of the disease
SpecialtyNeurology
Primary familial brain calcification[1] (PFBC), also known as fa... | Primary familial brain calcification | c0393590 | 7,897 | wikipedia | https://en.wikipedia.org/wiki/Primary_familial_brain_calcification | 2021-01-18T18:57:11 | {"gard": ["6406"], "mesh": ["C536275"], "umls": ["C0393590"], "orphanet": ["1980"], "wikidata": ["Q1947307"]} |
IRF6-related disorders include two different disorders caused by abnormalities in the interferon regulatory factor 6 (IRF6) gene. Van der Woude syndrome (VWS) is at the mild end of the spectrum and popliteal pterygium syndrome (PPS) is at the severe end of the spectrum. The symptoms of IRF6-related disorders vary gre... | IRF6-Related disorders | None | 7,898 | gard | https://rarediseases.info.nih.gov/diseases/12940/irf6-related-disorders | 2021-01-18T17:59:43 | {"synonyms": []} |
In Saskatchewan, Shokeir (1978) identified 3 sibships in 2 possibly related kindreds of German-Austrian extraction with a syndrome of absent thumbs, short stature with skeletal abnormalities such as unfused olecranon, and severe combined immunodeficiency. Severe chickenpox and chronic candidiasis were features. Conge... | THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY | c1848818 | 7,899 | omim | https://www.omim.org/entry/274190 | 2019-09-22T16:21:43 | {"mesh": ["C564770"], "omim": ["274190"], "orphanet": ["2951"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.