text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis... | Ring chromosome 1 syndrome | c0265395 | 7,300 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1437 | 2021-01-23T18:00:12 | {"gard": ["1320"], "mesh": ["C535361"], "umls": ["C0265395", "C1519099"], "icd-10": ["Q93.2"], "synonyms": ["Ring 1", "Ring chromosome 1", "r(1) syndrome"]} |
Trichophagia
SpecialtyPsychiatry
Trichophagia is the compulsive eating of hair associated with trichotillomania (hair pulling).[1] In trichophagia, people with trichotillomania also ingest the hair that they pull; in extreme cases this can lead to a hair ball (trichobezoar).[2] The term is derived from ancient... | Trichophagia | c0584961 | 7,301 | wikipedia | https://en.wikipedia.org/wiki/Trichophagia | 2021-01-18T18:41:36 | {"icd-10": ["F98.4"], "wikidata": ["Q1578799"]} |
Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.
## Epidemiology
Fewer than 40 cases of HEP have been described.
## Clinical description
The disease starts in childhood. The principle clinical signs include fragile ... | Hepatoerythropoietic porphyria | c0162569 | 7,302 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95159 | 2021-01-23T18:14:31 | {"gard": ["6169"], "mesh": ["D017121"], "omim": ["176100"], "umls": ["C0162569", "C0268324"], "icd-10": ["E80.2"], "synonyms": ["HEP"]} |
For a discussion of genetic heterogeneity of hematocrit/hemoglobin quantitative trait loci, see HCHGQ1 (609319).
Mapping
Chambers et al. (2009) carried out a genomewide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely associated SNP, rs855791, resu... | HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3 | c2750092 | 7,303 | omim | https://www.omim.org/entry/613284 | 2019-09-22T15:59:05 | {"omim": ["613284"], "synonyms": ["Alternative titles", "HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 22"]} |
Heart rate that exceeds the normal resting rate
Tachycardia
Other namesTachyarrhythmia
ECG showing sinus tachycardia with a rate of about 100 beats per minute
Pronunciation
* Tachycardia /tækiˈkɑːrdiə/, tachyarrhythmia /tækiəˈrɪðmiə/
SpecialtyCardiology
Differential diagnosisPalpitations, Ventricul... | Tachycardia | c0039231 | 7,304 | wikipedia | https://en.wikipedia.org/wiki/Tachycardia | 2021-01-18T18:35:56 | {"mesh": ["D013610"], "umls": ["C0039231", "C4020868"], "wikidata": ["Q209583"]} |
Photoleukomelanodermatitis of Kobori
SpecialtyDermatology
Photoleukomelanodermatitis of Kobori is a cutaneous condition, a dyschromic drug eruption that occurs after ingestion of afloqualone, thiazides or tetracyclines, followed by exposure to sunlight.[1]
## See also[edit]
* Leukotriene receptor antag... | Photoleukomelanodermatitis of Kobori | None | 7,305 | wikipedia | https://en.wikipedia.org/wiki/Photoleukomelanodermatitis_of_Kobori | 2021-01-18T19:06:24 | {"wikidata": ["Q7187821"]} |
Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. In Sézary syndrome, the ca... | Sézary syndrome | c0026948 | 7,306 | medlineplus | https://medlineplus.gov/genetics/condition/sezary-syndrome/ | 2021-01-27T08:24:36 | {"gard": ["7629"], "mesh": ["D009182"], "omim": ["254400"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Doyne honeycomb retinal dystrophy is caused in a majority of cases by mutations in the EFEMP1 gene (601548) on chromosome 2p16.
Clinical Features
Characteristically small round white spots (drusen) involving the posterior pole of the eye, including ... | DOYNE HONEYCOMB RETINAL DYSTROPHY | c1832174 | 7,307 | omim | https://www.omim.org/entry/126600 | 2019-09-22T16:42:10 | {"doid": ["0060745"], "mesh": ["C535602"], "omim": ["126600"], "orphanet": ["75376"], "synonyms": ["Alternative titles", "DOYNE HONEYCOMB DEGENERATION OF RETINA"]} |
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (t... | German syndrome | c3887495 | 7,308 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2077 | 2021-01-23T18:41:52 | {"mesh": ["C562543"], "omim": ["231080"], "umls": ["C3887495"], "icd-10": ["Q87.8"], "synonyms": ["Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome"]} |
The examples and perspective in this article deal primarily with the United States and do not represent a worldwide view of the subject. You may improve this article, discuss the issue on the talk page, or create a new article, as appropriate. (April 2020) (Learn how and when to remove this template message)
Int... | Intact dilation and extraction | None | 7,309 | wikipedia | https://en.wikipedia.org/wiki/Intact_dilation_and_extraction | 2021-01-18T18:57:38 | {"wikidata": ["Q4165237"]} |
## Clinical Features
Goeminne (1968) described an apparently novel X-linked trait with incomplete dominance. None of the affected males reproduced. Affected persons included (1) a male with congenital muscular torticollis; (2) a male with torticollis, cryptorchidism and varicose veins; (3) a male with torticoll... | TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA | c1839129 | 7,310 | omim | https://www.omim.org/entry/314300 | 2019-09-22T16:17:12 | {"mesh": ["C536970"], "omim": ["314300"], "orphanet": ["3341"], "synonyms": ["Alternative titles", "TKC", "TKCR SYNDROME", "GOEMINNE SYNDROME"]} |
A number sign (#) is used with this entry because autosomal recessive nonsyndromic mental retardation-15 (MRT15) is caused by homozygous mutation in the MAN1B1 gene (604346) on chromosome 9q34.
Clinical Features
Rafiq et al. (2010) reported 3 consanguineous Pakistani families with nonsyndromic mental retardation. T... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | c3280127 | 7,311 | omim | https://www.omim.org/entry/614202 | 2019-09-22T15:56:09 | {"doid": ["0050889"], "omim": ["614202"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, br... | Orofaciodigital syndrome type 13 | c2932680 | 7,312 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141330 | 2021-01-23T18:57:51 | {"gard": ["10694"], "mesh": ["C548035"], "umls": ["C2932680"], "icd-10": ["Q87.0"], "synonyms": ["Degner syndrome", "OFD13", "Oral-facial-digital syndrome type 13"]} |
Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal def... | Fixed subaortic stenosis | c1848979 | 7,313 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3092 | 2021-01-23T18:16:30 | {"mesh": ["C564793"], "omim": ["271950"], "umls": ["C1848979"], "icd-10": ["Q24.4"]} |
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
## Epidemiology
The exact prevalence is unknown. Approximately 25 cases have been reporte... | Self-improving collodion baby | c1855789 | 7,314 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=281122 | 2021-01-23T17:15:02 | {"mesh": ["C565473"], "omim": ["242100", "242300", "606545"], "umls": ["C1855789"], "icd-10": ["Q80.2"], "synonyms": ["SHCB", "SICI", "Self-healing collodion baby", "Self-improving congenital ichthyosis"]} |
A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, s... | Metachromatic leukodystrophy, juvenile form | c0751276 | 7,315 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309263 | 2021-01-23T17:36:32 | {"mesh": ["D007966"], "umls": ["C0751276"], "icd-10": ["E75.2"], "synonyms": ["Arylsulfatase A deficiency, juvenile form", "MLD, juvenile form"]} |
Immature teratoma
Micrograph of the primitive neuroepithelium of an immature teratoma. H&E stain.
SpecialtyOncology
An immature teratoma is a teratoma that contains anaplastic immature elements, and is often synonymous with malignant teratoma.[1] A teratoma is a tumor of germ cell origin, containing tissues ... | Immature teratoma | c0855163 | 7,316 | wikipedia | https://en.wikipedia.org/wiki/Immature_teratoma | 2021-01-18T18:44:00 | {"umls": ["C0855163"], "wikidata": ["Q6004750"]} |
Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the... | Female infertility due to zona pellucida defect | c4014291 | 7,317 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=404466 | 2021-01-23T18:32:15 | {"omim": ["615774", "617712", "618353"], "icd-10": ["N97.8"]} |
## Description
Usher syndrome type I an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction (summary by Chaib et al., 1997).
For a discussion of genetic heterogeneity of USH type I, see 2769... | USHER SYNDROME, TYPE IE | c0271097 | 7,318 | omim | https://www.omim.org/entry/602097 | 2019-09-22T16:13:55 | {"doid": ["0110833"], "mesh": ["D052245"], "omim": ["602097"], "orphanet": ["886", "231169"], "genereviews": ["NBK1265"]} |
In lower vertebrates, a major function of prolactin (PRL) is to conserve water and maintain electrolyte balance. Studies in man and lower primates indicate that PRL also influences water and ion fluxes across the placental membranes, the amnion and chorion laeve, which are both of fetal origin and are apposed to mate... | POLYHYDRAMNIOS, CHRONIC IDIOPATHIC | c1849720 | 7,319 | omim | https://www.omim.org/entry/263610 | 2019-09-22T16:23:14 | {"mesh": ["C564876"], "omim": ["263610"], "synonyms": ["Alternative titles", "LACTOGEN RECEPTOR DEFECT OF CHORION"]} |
## Description
Pathologic gambling is defined as a chronic and progressive failure to resist impulses to gamble accompanied by gambling behavior that compromises or damages personal, family, or vocational pursuits. The prevalence of pathologic gambling in the adult American population is estimated to be between 1 a... | GAMBLING, PATHOLOGIC | c0030662 | 7,320 | omim | https://www.omim.org/entry/606349 | 2019-09-22T16:10:29 | {"doid": ["12399"], "mesh": ["D005715"], "omim": ["606349"], "icd-9": ["312.31"], "icd-10": ["F63.0"]} |
Human African Trypanosomiasis (HAT), also called sleeping sickness, is a vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of t... | African trypanosomiasis | c0041228 | 7,321 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3385 | 2021-01-23T18:07:05 | {"gard": ["7826"], "mesh": ["D014353"], "umls": ["C0041228"], "icd-10": ["B56.0", "B56.1", "B56.9"], "synonyms": ["Sleeping sickness"]} |
Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.
## Epidemiology
To date, approximately 250 cases have been described worldwide (the majority of whom were white individuals).
## Clinical description
The disease is characterized by wide intra- and inte... | Oculodentodigital dysplasia | c0812437 | 7,322 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2710 | 2021-01-23T18:22:15 | {"gard": ["7239"], "mesh": ["C563160"], "omim": ["164200", "257850"], "umls": ["C0812437"], "icd-10": ["Q87.8"], "synonyms": ["Meyer-Schwickerath syndrome", "ODDD syndrome", "Oculodentoosseous dysplasia"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-61 (IMD61) is caused by hemizygous mutation in the SH3KBP1 gene (300374) on chromosome Xp22. One such family has been reported.
Description
Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized ... | IMMUNODEFICIENCY 61 | c0221026 | 7,323 | omim | https://www.omim.org/entry/300310 | 2019-09-22T16:20:31 | {"mesh": ["C537409"], "omim": ["300310"], "orphanet": ["47", "229717"], "synonyms": ["Alternative titles", "AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2", "XLA2"]} |
Small intestine cancer
Other namesSmall bowel cancer, cancer of the small bowel
Picture of a carcinoid tumour that encroaches into lumen of the small bowel. Pathology specimen. The prominent folds are plicae circulares, a characteristic of small bowel.
SpecialtyGastroenterology, general surgery, oncology
Symp... | Small intestine cancer | c0153425 | 7,324 | wikipedia | https://en.wikipedia.org/wiki/Small_intestine_cancer | 2021-01-18T18:49:57 | {"gard": ["9385"], "umls": ["C0153425"], "wikidata": ["Q1271826"]} |
Omasitis is an inflammation of the omasum,[1] the third compartment of the stomach in ruminants. It usually accompanies rumenitis, and is often caused by infection with Fusobacterium necrophorum.
## References[edit]
1. ^ Douglas, M. Anderson, M.A.; D. Novak, PhD, Patricia; Jefferson, Keith, M.A. (2011). Dorla... | Omasitis | c0267228 | 7,325 | wikipedia | https://en.wikipedia.org/wiki/Omasitis | 2021-01-18T18:36:57 | {"wikidata": ["Q18357097"]} |
Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template... | Quebec platelet disorder | c1866423 | 7,326 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=220436 | 2021-01-23T19:05:02 | {"gard": ["8345"], "mesh": ["C536260"], "omim": ["601709"], "umls": ["C1866423"], "icd-10": ["D69.1"], "synonyms": ["Factor V Quebec"]} |
A number sign (#) is used with this entry because of evidence that this form of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A9; MDDGA9) is caused by homozygous mutation in the DAG1 gene (128239) on chromosome 3p21.
Mutation in the DAG1 gene can also cause the less severe disor... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | c0265221 | 7,327 | omim | https://www.omim.org/entry/616538 | 2019-09-22T15:48:36 | {"doid": ["0111232"], "mesh": ["D058494"], "omim": ["616538"], "orphanet": ["370997", "899"], "synonyms": ["Alternative titles", "WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED", "MEB disease with bilateral multicystic leucodystrophy"]} |
Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
## Epidemiology
The prevalence of BSPDC is n... | Bilateral striopallidodentate calcinosis | c0393590 | 7,328 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1980 | 2021-01-23T18:53:26 | {"gard": ["6406"], "omim": ["213600", "615007", "615483", "616413", "618824"], "umls": ["C0393590"], "icd-10": ["G23.8"], "synonyms": ["BSPDC", "Cerebrovascular ferrocalcinosis", "Idiopathic basal ganglia calcification", "PFBC", "Primary familial brain calcification"]} |
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).
## Epidemiology
It has been described in two patient... | 8q12 microduplication syndrome | c4304504 | 7,329 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228399 | 2021-01-23T19:06:33 | {"gard": ["12816"], "icd-10": ["Q92.3"], "synonyms": ["Dup(8)(q12)", "Trisomy 8q12"]} |
Uterine perforation
SpecialtyEmergency medicine
Uterine perforation is a potential complication of any intrauterine procedure. It may be associated with injury to surrounding blood vessels or viscera such as the bladder or intestine. If not diagnosed at the time of the procedure it can occasionally result in m... | Uterine perforation | c0042139 | 7,330 | wikipedia | https://en.wikipedia.org/wiki/Uterine_perforation | 2021-01-18T18:56:13 | {"mesh": ["D014595"], "icd-9": ["867.4", "867.5"], "icd-10": ["S37"], "wikidata": ["Q3918693"]} |
Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.
The first sign of inclusion body myopathy 2 is weakness of a muscle ... | Inclusion body myopathy 2 | c1853926 | 7,331 | medlineplus | https://medlineplus.gov/genetics/condition/inclusion-body-myopathy-2/ | 2021-01-27T08:25:31 | {"gard": ["9493"], "mesh": ["C536816"], "omim": ["605820"], "synonyms": []} |
X-linked recessive disorder characterised by impulsive behaviour
Brunner syndrome
Other namesMonoamine oxidase A deficiency
This condition is inherited in an X-linked recessive manner.
Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than ... | Brunner syndrome | c0796275 | 7,332 | wikipedia | https://en.wikipedia.org/wiki/Brunner_syndrome | 2021-01-18T18:44:03 | {"gard": ["3531"], "mesh": ["C563156"], "umls": ["C0796275"], "orphanet": ["3057"], "wikidata": ["Q4979092"]} |
Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in young... | Osteomesopyknosis | c0432264 | 7,333 | gard | https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis | 2021-01-18T17:58:32 | {"mesh": ["C537792"], "omim": ["166450"], "umls": ["C0432264"], "orphanet": ["2777"], "synonyms": ["Axial osteosclerosis"]} |
Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person. It is usually contracted by breathing airborne droplets from affected individuals' coughs and sneezes, or by co... | Leprosy | c1835932 | 7,334 | medlineplus | https://medlineplus.gov/genetics/condition/leprosy/ | 2021-01-27T08:25:26 | {"gard": ["6886"], "omim": ["609888", "607572", "246300", "610988", "613223", "613407"], "synonyms": []} |
Facial nerve paralysis
Other namesFacial palsy, prosopoplegia[1]
Moche culture representation of facial paralysis. 300 AD, Larco Museum Collection, Lima, Peru
SpecialtyNeurology
Facial nerve paralysis is a common problem that involves the paralysis of any structures innervated by the facial nerve. The path... | Facial nerve paralysis | c0015469 | 7,335 | wikipedia | https://en.wikipedia.org/wiki/Facial_nerve_paralysis | 2021-01-18T18:34:48 | {"mesh": ["D005158"], "umls": ["C0015469", "C0427055"], "icd-9": ["351"], "wikidata": ["Q7562539"]} |
Congenital extreme form of developmental delay and neoteny
Neotenic complex syndrome
Other namesSyndrome X
Usual onsetUsually detected at or after age 3, but likely present at birth
CausesPossibly genetic (de novo mutations)
FrequencyExtremely rare: less than 100 confirmed cases worldwide
Neotenic c... | Neotenic complex syndrome | None | 7,336 | wikipedia | https://en.wikipedia.org/wiki/Neotenic_complex_syndrome | 2021-01-18T19:00:49 | {"wikidata": ["Q55624965"]} |
## Summary
### Clinical characteristics.
Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecog... | Tyrosinemia Type I | c0268490 | 7,337 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1515/ | 2021-01-18T20:51:56 | {"mesh": ["D020176"], "synonyms": ["FAH Deficiency", "Fumarylacetoacetase Deficiency", "Fumarylacetoacetate Hydrolase Deficiency", "Hepatorenal Tyrosinemia"]} |
Wallenberg syndrome is a condition that affects the nervous system. Signs and symptoms may include swallowing difficulties, dizziness, hoarseness, nausea and vomiting, nystagmus, and problems with balance. Some people have uncontrollable hiccups, loss of pain and temperature sensation on one side of the face, and/or ... | Wallenberg syndrome | c0043019 | 7,338 | gard | https://rarediseases.info.nih.gov/diseases/9263/wallenberg-syndrome | 2021-01-18T17:57:08 | {"mesh": ["D014854"], "synonyms": ["Lateral medullary syndrome", "Posterior inferior cerebellar artery syndrome", "PICA syndrome", "Vertebral artery syndrome", "Wallenberg's syndrome"]} |
Seijffers et al. (1964) described what they termed systemic venular insufficiency in a 40-year-old Ashkenazi Jew. Marked cyanosis and swelling of the head and neck followed bending over and the hands and feet were similarly affected when in the dependent position. Small veins and venules in conjunctiva showed marked ... | VENULAR INSUFFICIENCY, SYSTEMIC | c1860465 | 7,339 | omim | https://www.omim.org/entry/192700 | 2019-09-22T16:32:00 | {"mesh": ["C566004"], "omim": ["192700"]} |
## Description
Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with ... | ANEURYSM, INTRACRANIAL BERRY, 6 | c1862932 | 7,340 | omim | https://www.omim.org/entry/611892 | 2019-09-22T16:02:46 | {"doid": ["0060228"], "mesh": ["C566284"], "omim": ["105800", "611892"], "orphanet": ["231160"], "synonyms": ["Familial berry aneurysm", "Familial intracranial saccular aneurysm"]} |
A rare radiation-induced disorder characterized by exposed irradiated bone that fails to heal over a period of three months without evidence of persisting or recurrent tumor. Patients present with pain, dysesthesia, dysgeusia, fetor oris, trismus, ulceration or necrosis of the mucosa with exposure of necrotic bone, a... | Osteoradionecrosis of the mandible | c1290728 | 7,341 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=521127 | 2021-01-23T17:51:45 | {} |
## Summary
### Clinical characteristics.
Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and in many, a large patent duc... | Cantú Syndrome | c0795905 | 7,342 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK246980/ | 2021-01-18T21:36:34 | {"mesh": ["C535572"], "synonyms": []} |
A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are dia... | Pituitary carcinoma | c0346300 | 7,343 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300385 | 2021-01-23T17:07:28 | {"gard": ["9371"], "mesh": ["D010911"], "umls": ["C0346300"], "icd-10": ["C75.1"]} |
A number sign (#) is used with this entry because antigens of the Diego blood group system result from variation in the SLC4A1 gene (109270) on chromosome 17q21.
Description
The Diego blood group system consists of 2 pairs of antithetical antigens, Di(a) and Di(b) and Wr(a) and Wr(b), and at least 17 low-frequency ... | BLOOD GROUP, DIEGO SYSTEM | None | 7,344 | omim | https://www.omim.org/entry/110500 | 2019-09-22T16:44:21 | {"omim": ["110500"], "synonyms": ["Alternative titles", "DIEGO BLOOD GROUP SYSTEM"]} |
Paraneoplastic neurologic disorders are a group of rare degenerative conditions that are triggered by a person's immune system response to a cancerous tumor. Researchers believe these disorders occur when cancer-fighting antibodies or white blood cells known as T cells mistakenly attack normal cells in the nervous sy... | Paraneoplastic Neurologic Disorders | c1956415 | 7,345 | gard | https://rarediseases.info.nih.gov/diseases/9415/paraneoplastic-neurologic-disorders | 2021-01-18T17:58:26 | {"mesh": ["D004418"], "synonyms": ["PND"]} |
Tumors of the hematopoietic and lymphoid tissues
Micrograph of a plasmacytoma, a hematological malignancy
Tumors of the hematopoietic and lymphoid tissues (American English) or tumours of the haematopoietic and lymphoid malignancies (British English) are tumors that affect the blood, bone marrow, lymph, and ly... | Tumors of the hematopoietic and lymphoid tissues | None | 7,346 | wikipedia | https://en.wikipedia.org/wiki/Tumors_of_the_hematopoietic_and_lymphoid_tissues | 2021-01-18T19:08:25 | {"orphanet": ["68347"], "synonyms": [], "wikidata": ["Q2509220"]} |
A number sign (#) is used with this entry because of evidence that neurogenic arthrogryposis multiplex congenita with myelin defect (AMCNMY) is caused by homozygous or compound heterozygous mutation in the LGI4 gene (608303) on chromosome 19q13.
Description
AMCNMY is an autosomal recessive severe neurologic dis... | ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT | c4479539 | 7,347 | omim | https://www.omim.org/entry/617468 | 2019-09-22T15:45:47 | {"omim": ["617468"], "orphanet": ["2680"], "synonyms": []} |
Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.
*[v]: Vi... | Infantile apnea | c0745261 | 7,348 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70590 | 2021-01-23T17:54:21 | {"gard": ["6779"], "icd-10": ["P28.4"], "synonyms": ["Apnea of infancy"]} |
Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhyth... | Familial atrial fibrillation | c1843687 | 7,349 | gard | https://rarediseases.info.nih.gov/diseases/9740/familial-atrial-fibrillation | 2021-01-18T18:00:36 | {"mesh": ["C538261"], "omim": ["608583"], "umls": ["C1843687"], "orphanet": ["334"], "synonyms": ["Atrial fibrillation autosomal dominant", "Autosomal dominant atrial fibrillation", "Atrial fibrillation, familial", "ATFB"]} |
Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also ab... | Linear scleroderma | c0263409 | 7,350 | gard | https://rarediseases.info.nih.gov/diseases/9513/linear-scleroderma | 2021-01-18T17:59:22 | {"mesh": ["D012594"], "umls": ["C0263409"], "synonyms": ["Scleroderma, linear", "En coup de sabre"]} |
Traumatic anserine folliculosis
SpecialtyDermatology
Traumatic anserine folliculosis is a curious gooseflesh-like follicular hyperkeratosis that may result from persistent pressure and lateral friction of one skin surface against another.[1]:775
## See also[edit]
* List of cutaneous conditions
## Referenc... | Traumatic anserine folliculosis | None | 7,351 | wikipedia | https://en.wikipedia.org/wiki/Traumatic_anserine_folliculosis | 2021-01-18T18:29:26 | {"wikidata": ["Q7835821"]} |
Pregnancy fetishism (also known as maiesiophilia or maieusophoria) is a context where pregnancy is seen by individuals or cultures as an erotic phenomenon.[1] It may involve sexual attraction to women who are pregnant or appear pregnant, attraction to lactation, or attraction to particular stages of pregnancy suc... | Pregnancy fetishism | None | 7,352 | wikipedia | https://en.wikipedia.org/wiki/Pregnancy_fetishism | 2021-01-18T18:40:01 | {"wikidata": ["Q796218"]} |
## Summary
### Clinical characteristics.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition. Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine (in order... | Peutz-Jeghers Syndrome | c0031269 | 7,353 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1266/ | 2021-01-18T21:03:52 | {"mesh": ["D010580"], "synonyms": ["PJS"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of Miyoshi muscular dystrophy, see MMD1 (254130).
Clinical Features
Linssen et al. (1998) reported 2 unrelated Dutch families with Miyoshi muscular dystrophy. The phenotype was similar to that described in MMD1, except that the muscle we... | MIYOSHI MUSCULAR DYSTROPHY 2 | c1850808 | 7,354 | omim | https://www.omim.org/entry/613318 | 2019-09-22T15:59:01 | {"doid": ["0070200"], "omim": ["613318"], "orphanet": ["45448"], "synonyms": ["Alternative titles", "MIYOSHI MYOPATHY 2"]} |
High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis... | High isolated anorectal malformation | c0345210 | 7,355 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171201 | 2021-01-23T17:40:36 | {"umls": ["C0345210"], "icd-10": ["Q42.0", "Q42.1"]} |
A number sign (#) is used with this entry because the Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2.
See also Smith-Magenis syndrome (SMS; 182290), which is associated with the reciprocal deletion of chromosome 17p11.2 and shows overlapping clinical features... | POTOCKI-LUPSKI SYNDROME | c2931246 | 7,356 | omim | https://www.omim.org/entry/610883 | 2019-09-22T16:03:56 | {"doid": ["0060853"], "mesh": ["C538355"], "omim": ["610883"], "orphanet": ["1713"], "synonyms": ["Alternative titles", "CHROMOSOME 17p11.2 DUPLICATION SYNDROME"], "genereviews": ["NBK447920"]} |
Joubert syndrome is disorder of brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). Together, th... | Joubert syndrome | c0431399 | 7,357 | gard | https://rarediseases.info.nih.gov/diseases/6802/joubert-syndrome | 2021-01-18T17:59:41 | {"mesh": ["C536293"], "omim": ["213300"], "umls": ["C0431399"], "orphanet": ["475"], "synonyms": ["Cerebelloparenchymal disorder 4", "Cerebellar vermis agenesis", "Joubert-Boltshauser syndrome", "JBTS1", "CPD4", "Cerebellooculorenal syndrome 1", "CORS1", "Joubert syndrome 1"]} |
A number sign (#) is used with this entry because atrial septal defect-2 (ASD2) is caused by heterozygous mutation in the GATA4 gene (600576) on chromosome 8p23.
For discussion of genetic heterogeneity in atrial septal defect, see ASD1 (108800).
Clinical Features
Garg et al. (2003) identified a large kindred spann... | ATRIAL SEPTAL DEFECT 2 | c0018817 | 7,358 | omim | https://www.omim.org/entry/607941 | 2019-09-22T16:08:30 | {"doid": ["0110107"], "mesh": ["D006344"], "omim": ["607941"], "orphanet": ["1478"]} |
Heart rate that is below the normal range
Bradycardia
Other namesBradyarrhythmia, brachycardia
Sinus bradycardia seen in lead II with a heart rate of about 50BPM
Pronunciation
* /ˌbrædɪˈkɑːrdiə/
SpecialtyCardiology
Frequency15% (males), 7% (females)
Bradycardia is a condition typically defined... | Bradycardia | c0428977 | 7,359 | wikipedia | https://en.wikipedia.org/wiki/Bradycardia | 2021-01-18T19:10:58 | {"mesh": ["D001919"], "umls": ["C0428977"], "icd-9": ["427.81", "659.7", "779.81", "785.9"], "wikidata": ["Q217111"]} |
A number sign (#) is used with this entry because of evidence that renal hypomagnesemia-2 (HOMG2) is caused by heterozygous mutation in the FXYD2 gene (601814) on chromosome 11q23.
For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014.
Clinical Features
Geven et al. (1987) reported 2 un... | HYPOMAGNESEMIA 2, RENAL | c1835171 | 7,360 | omim | https://www.omim.org/entry/154020 | 2019-09-22T16:38:43 | {"doid": ["0060885"], "mesh": ["C537152"], "omim": ["154020"], "orphanet": ["34528"], "synonyms": ["Alternative titles", "MAGNESIUM WASTING, RENAL", "MAGNESIUM LOSS, ISOLATED RENAL"]} |
Jaffe–Campanacci syndrome
Other namesMultiple non-ossifying fibromatosis[1]
Jaffe-Campanacci-Syndrome, boy 7 Y, tibial bowing and cortical/subcortial mixed sclerosis
Jaffe–Campanacci syndrome is one of the disorders associated with café au lait macules (CALMs). Presentations may include intellectual disabili... | Jaffe–Campanacci syndrome | c0796000 | 7,361 | wikipedia | https://en.wikipedia.org/wiki/Jaffe%E2%80%93Campanacci_syndrome | 2021-01-18T18:49:50 | {"gard": ["309"], "umls": ["C0796000"], "orphanet": ["2029"], "wikidata": ["Q6121943"]} |
A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.
## Epidemiology
The precise estimates of birth prevalence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,0... | Greig cephalopolysyndactyly syndrome | c0265306 | 7,362 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=380 | 2021-01-23T18:58:24 | {"gard": ["6550"], "mesh": ["C537300"], "omim": ["175700"], "umls": ["C0265306"], "icd-10": ["Q87.0"], "synonyms": ["GCPS"]} |
Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.
## Epidemiology
It has been described in three siblings.
## Clinical description... | Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome | None | 7,363 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228396 | 2021-01-23T16:54:03 | {"icd-10": ["Q87.0"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Fibrocartilage callus" – news · newspapers... | Fibrocartilage callus | None | 7,364 | wikipedia | https://en.wikipedia.org/wiki/Fibrocartilage_callus | 2021-01-18T18:36:26 | {"mesh": ["D002146"], "wikidata": ["Q1388855"]} |
Primary familial and congenital polycythemia (PFCP) is an inherited blood disease that causes uncontrolled production of red blood cells (erythrocytes). This leads to an increased volume of red blood cells compared to the total blood volume (erythrocytosis). It may also lead to increased total blood volume or inc... | Primary familial and congenital polycythemia | c0152264 | 7,365 | gard | https://rarediseases.info.nih.gov/diseases/9843/primary-familial-and-congenital-polycythemia | 2021-01-18T17:58:11 | {"omim": ["133100"], "orphanet": ["90042"], "synonyms": ["Familial erythrocytosis", "Primary congenital erythrocytosis", "Familial erythrocytosis type 1", "ECYT1", "Polycythemia, primary familial and congenital", "PFCP", "Erythrocytosis autosomal dominant benign", "Congenital polycythemia due to erythropoietin receptor... |
A number sign (#) is used with this entry because Usher syndrome type IB (USH1B) is caused by homozygous or compound heterozygous mutation in the MYO7A gene (276903) on chromosome 11q13.
Description
Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment wit... | USHER SYNDROME, TYPE I | c0271097 | 7,366 | omim | https://www.omim.org/entry/276900 | 2019-09-22T16:21:26 | {"doid": ["0110826"], "mesh": ["D052245"], "omim": ["276900"], "orphanet": ["886", "231169"], "synonyms": ["Alternative titles", "US1", "RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS"], "genereviews": ["NBK1265"]} |
## Description
Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002).
For a general phenotypic d... | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 | c1970474 | 7,367 | omim | https://www.omim.org/entry/610906 | 2019-09-22T16:03:55 | {"omim": ["610906"], "synonyms": ["Alternative titles", "ASRT4", "ASTHMA AND ALLERGIC RHINITIS, SUSCEPTIBILITY TO"]} |
A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or syn... | Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome | c3554611 | 7,368 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=357332 | 2021-01-23T16:54:41 | {"omim": ["615170"], "icd-10": ["Q87.2"], "synonyms": ["Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome", "Wahab syndrome"]} |
Nasopharyngeal angiofibroma
Other namesJuvenile nasopharyngeal angiofibroma[1][2]
Micrograph of a nasopharyngeal angiofibroma H&E stain.
SpecialtyENT surgery
Nasopharyngeal angiofibroma, also known as juvenile nasal angiofibroma, is a histologically benign but locally aggressive vascular tumor of the nasop... | Nasopharyngeal angiofibroma | c1367536 | 7,369 | wikipedia | https://en.wikipedia.org/wiki/Nasopharyngeal_angiofibroma | 2021-01-18T18:28:39 | {"umls": ["C1367536"], "orphanet": ["289596"], "wikidata": ["Q546357"]} |
Condensing osteitis
Other namesfocal sclerosing osteomyelitis
SpecialtyDentistry
Condensing osteitis is a periapical inflammatory disease that results from a reaction to a dental related infection. This causes more bone production rather than bone destruction in the area (most common site is near the roo... | Condensing osteitis | c0152263 | 7,370 | wikipedia | https://en.wikipedia.org/wiki/Condensing_osteitis | 2021-01-18T19:04:54 | {"icd-9": ["733.5"], "icd-10": ["M85.3"], "wikidata": ["Q5159188"]} |
Hyperoxaluria
Other namesBird's disease
Oxalate
SpecialtyEndocrinology
Hyperoxaluria is an excessive urinary excretion of oxalate. Individuals with hyperoxaluria often have calcium oxalate kidney stones. It is sometimes called Bird's disease, after Golding Bird, who first described the condition.
## C... | Hyperoxaluria | c0020500 | 7,371 | wikipedia | https://en.wikipedia.org/wiki/Hyperoxaluria | 2021-01-18T18:51:23 | {"mesh": ["D006959"], "icd-9": ["271.8"], "icd-10": ["E74.8"], "wikidata": ["Q1641060"]} |
Allan–Herndon–Dudley syndrome
This condition is inherited in an X-linked recessive manner
SpecialtyMedical genetics, neurology, pediatrics
Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes both moderate to severe intellectual disability and problems with... | Allan–Herndon–Dudley syndrome | c0795889 | 7,372 | wikipedia | https://en.wikipedia.org/wiki/Allan%E2%80%93Herndon%E2%80%93Dudley_syndrome | 2021-01-18T19:05:25 | {"gard": ["5617"], "mesh": ["C537047"], "umls": ["C0795889"], "orphanet": ["280270", "59"], "wikidata": ["Q4731121"]} |
## Mapping
In a genomewide scan using 385 microsatellite markers in 1,261 individuals representing 402 nuclear families of African American origin, Li et al. (2006) found a region near marker D10S1432 on chromosome 10q22 that showed significant linkage to indexed smoking quantity, with a maximum lod score of 4.... | SMOKING AS A QUANTITATIVE TRAIT LOCUS 1 | c1970249 | 7,373 | omim | https://www.omim.org/entry/611003 | 2019-09-22T16:03:46 | {"omim": ["611003"]} |
## Description
Acquired partial lipodystrophy (APLD) is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities. A large group of patients (83%) with ... | LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS | c3151347 | 7,374 | omim | https://www.omim.org/entry/613913 | 2019-09-22T15:57:02 | {"omim": ["613913"], "synonyms": ["Alternative titles", "LIPODYSTROPHY, PARTIAL, ACQUIRED, ASSOCIATED WITH C3 NEPHRITIC FACTOR"]} |
A number sign (#) is used with this entry because of evidence that familial episodic pain syndrome-1 (FEPS1) is caused by heterozygous mutation in the TRPA1 gene (604775) on chromosome 8q13. One such family has been reported.
Description
Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder... | EPISODIC PAIN SYNDROME, FAMILIAL, 1 | c3808667 | 7,375 | omim | https://www.omim.org/entry/615040 | 2019-09-22T15:53:17 | {"omim": ["615040"], "orphanet": ["391384", "391389"], "synonyms": ["FEPS"]} |
## Clinical Features
Meijer et al. (2004) reported a large French Canadian family in which 7 of 14 sibs had a pure form of spastic paraplegia (SPG) with adult onset (25 to 45 years). All affected individuals had moderate to severe lower limb spastic paraparesis with hyperreflexia, extensor plantar responses, and sp... | SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE | c1836899 | 7,376 | omim | https://www.omim.org/entry/609041 | 2019-09-22T16:06:48 | {"doid": ["0110778"], "mesh": ["C563807"], "omim": ["609041"], "orphanet": ["101007"]} |
Tear of the tendon that runs from the quadriceps muscle to the top of the knee cap
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be... | Quadriceps tendon rupture | c0263968 | 7,377 | wikipedia | https://en.wikipedia.org/wiki/Quadriceps_tendon_rupture | 2021-01-18T18:42:19 | {"umls": ["C0263968"], "icd-9": ["727.65"], "wikidata": ["Q769457"]} |
Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.
## Epidemiology
Prevalence is unknown.
## Clinical description
Onset is usually between ages 3 months and 12 years. Hair becomes progressively silvery-blond or straw-colored, dry and disordered, standing out... | Uncombable hair syndrome | c0432347 | 7,378 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1410 | 2021-01-23T17:46:24 | {"gard": ["5404"], "mesh": ["C536939"], "omim": ["191480", "617251", "617252"], "umls": ["C0432347"], "icd-10": ["Q84.1"], "synonyms": ["Pili trianguli et canaliculi"]} |
Hartnup disease
Other namesAminoaciduria, Hartnup type
Tryptophan
SpecialtyEndocrinology
Hartnup disease has an autosomal recessive pattern of inheritance.
Hartnup disease (also known as "pellagra-like dermatosis"[1] and "Hartnup disorder"[2]) is an autosomal recessive[3] metabolic disorder affecting the ... | Hartnup disease | c0018609 | 7,379 | wikipedia | https://en.wikipedia.org/wiki/Hartnup_disease | 2021-01-18T18:35:01 | {"gard": ["6569"], "mesh": ["D006250"], "umls": ["C0018609"], "icd-9": ["270.0"], "orphanet": ["2116"], "wikidata": ["Q200985"]} |
A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.
*... | Iminoglycinuria | c0268654 | 7,380 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=42062 | 2021-01-23T18:03:33 | {"gard": ["8424"], "mesh": ["C536285"], "omim": ["242600"], "umls": ["C0268654"], "icd-10": ["E72.0"]} |
White plague is a suite of coral diseases of which three types have been identified, initially in the Florida Keys. They are infectious diseases but it has proved difficult to identify the pathogens involved. White plague type II may be caused by the gram negative bacterium Aurantimonas coralicida in the order Rhizob... | White plague (coral disease) | None | 7,381 | wikipedia | https://en.wikipedia.org/wiki/White_plague_(coral_disease) | 2021-01-18T18:33:49 | {"wikidata": ["Q48997936"]} |
MODY 6
Other namesMaturity-Onset Diabetes of the Young, Type 6
MODY 6 is a form of maturity onset diabetes of the young.
MODY 6 arises from mutations of the gene for the transcription factor referred to as neurogenic differentiation 1. The gene is on chromosome 2 in a region of the p arm known as IDDM7 becaus... | MODY 6 | c1853371 | 7,382 | wikipedia | https://en.wikipedia.org/wiki/MODY_6 | 2021-01-18T19:10:10 | {"mesh": ["C565231"], "wikidata": ["Q6717008"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-5 (PEOB5) is caused by compound heterozygous mutation in the TOP3A gene (601243) on chromosome 17p11. One such patient has been reported.
For a discussion o... | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | None | 7,383 | omim | https://www.omim.org/entry/618098 | 2019-09-22T15:43:37 | {"omim": ["618098"], "synonyms": ["Alternative titles", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 21 (MC1DN21) is caused by homozygous or compound heterozygous mutation in the NUBPL gene (613621) on chromosome 14q12.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, se... | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | c2936907 | 7,384 | omim | https://www.omim.org/entry/618242 | 2019-09-22T15:42:52 | {"mesh": ["C537475"], "omim": ["618242"], "orphanet": ["2609"]} |
Eye injuries during general anaesthesia are reasonably common if care is not taken to prevent them.
## Contents
* 1 Incidence of eye injuries
* 2 Effect of general anaesthesia on eyes
* 3 Mechanism of Injury
* 4 Methods available for eye injury prevention
* 5 Discussion of methods
* 6 Adverse outcomes a... | Eye injuries during general anaesthesia | None | 7,385 | wikipedia | https://en.wikipedia.org/wiki/Eye_injuries_during_general_anaesthesia | 2021-01-18T18:54:48 | {"wikidata": ["Q17155694"]} |
Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth h... | Drug-induced localized lipodystrophy | c1274983 | 7,386 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90157 | 2021-01-23T17:53:59 | {"icd-10": ["E88.1"], "synonyms": ["Lipoatrophy caused by injected drug"]} |
## Summary
### Clinical description.
Action myoclonus – renal failure (AMRF) syndrome typically comprises a continuum of two major (and ultimately fatal) manifestations: progressive myoclonic epilepsy (PME) and renal failure; however, in some instances, the kidneys are not involved. Neurologic manifestations can ap... | Action Myoclonus – Renal Failure Syndrome | None | 7,387 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK333437/ | 2021-01-18T21:43:54 | {"synonyms": []} |
Primary cutaneous amyloidosis is a form of amyloidosis, a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous... | Primary cutaneous amyloidosis | c0268397 | 7,388 | gard | https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis | 2021-01-18T17:58:11 | {"mesh": ["C562642"], "omim": ["105250", "613955"], "orphanet": ["137807"], "synonyms": ["Primary localized cutaneous amyloidosis", "PLCA", "Lichen amyloidosis familial", "Amyloidosis familial cutaneous lichen", "Amyloidosis 9", "Amyloidosis IX"]} |
A number sign (#) is used with this entry because this form of frontotemporal dementia (FTD) is caused by mutation in the gene encoding microtubule-associated protein tau (MAPT; 157140) on chromosome 17q21. Most cases are caused by heterozygous mutation, although rare homozygous mutations have been reported.
Descrip... | FRONTOTEMPORAL DEMENTIA | c0338462 | 7,389 | omim | https://www.omim.org/entry/600274 | 2019-09-22T16:16:23 | {"doid": ["9255"], "mesh": ["D057180"], "omim": ["600274"], "icd-9": ["331.1"], "icd-10": ["G31.0"], "orphanet": ["100069", "100070", "293848", "282", "275864"], "synonyms": ["Alternative titles", "FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS", "FTLD WITH TAU INCLUSIONS", "DEMENTIA, FRONTOTEMPORAL, WITH PARKIN... |
Excessive fat build-up in the liver not caused by alcohol use
Non-alcoholic fatty liver disease
Other namesNAFLD, metabolic (dysfunction) associated fatty liver disease, MAFLD[1]
Stages of non-alcoholic fatty liver disease, progressing from healthy, to steatosis (fat accumulation), inflammation, fibrosis and cir... | Non-alcoholic fatty liver disease | c0400966 | 7,390 | wikipedia | https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease | 2021-01-18T18:51:41 | {"gard": ["6430"], "mesh": ["D065626"], "umls": ["C0400966"], "icd-9": ["571.8"], "icd-10": ["K76.0"], "orphanet": ["33271"], "wikidata": ["Q1546498"]} |
Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms).
*[v]: View this template
*[t]: Di... | Unilateral polymicrogyria | c4024960 | 7,391 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268943 | 2021-01-23T17:42:14 | {"icd-10": ["Q04.3"]} |
Farag and Teebi (1990) described 3 brothers, the offspring of first cousins once removed, with this combination. The father had hypertelorism and a brother of his, who was married to a second cousin, had a daughter with hypertelorism and tetralogy of Fallot. All 4 affected relatives had mild or borderline mental reta... | HYPERTELORISM AND TETRALOGY OF FALLOT | c1855903 | 7,392 | omim | https://www.omim.org/entry/239711 | 2019-09-22T16:26:51 | {"mesh": ["C538386"], "omim": ["239711"]} |
Castle et al. (1992) described a family in which 2 male first cousins, sons of sisters, had type I hereditary motor and sensory neuropathy as well as aplasia cutis congenita of the scalp with underlying skull defect. Another male related to these 2 as a first cousin once removed through females had died at birth with... | CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA | c1844864 | 7,393 | omim | https://www.omim.org/entry/302803 | 2019-09-22T16:18:37 | {"mesh": ["C538077"], "omim": ["302803"]} |
Robinson et al. (1977) described 2 second cousins with infantile polymyoclonus. No other familial cases have been described. The main clinical features are chaotic rapid conjugate ocular movements, ataxia, somatic myoclonus, and irritability. The syndrome is not progressive. It runs a protracted course with exacerbat... | POLYMYOCLONUS, INFANTILE | c1849731 | 7,394 | omim | https://www.omim.org/entry/263550 | 2019-09-22T16:23:16 | {"mesh": ["C535524"], "omim": ["263550"]} |
Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal and multiply without control or order to form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm.
E... | Prostate cancer | c0376358 | 7,395 | medlineplus | https://medlineplus.gov/genetics/condition/prostate-cancer/ | 2021-01-27T08:25:22 | {"gard": ["4520"], "mesh": ["D011471"], "omim": ["176807", "607592", "604845", "601518", "611100", "611955", "611868", "611928", "611958", "611959", "614731", "608656", "608658", "609299", "609558", "610321", "602759", "610997", "300147", "300704", "615452", "609717", "603688", "605097"], "synonyms": []} |
A number sign (#) is used with this entry because HMG-CoA lyase deficiency is caused by homozygous or compound heterozygous mutation in the HMGCL gene (613898) on chromosome 1p.
Description
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare autosomal recessive disorder with the cardinal manifestations of met... | 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY | c1533587 | 7,396 | omim | https://www.omim.org/entry/246450 | 2019-09-22T16:25:56 | {"omim": ["246450"], "orphanet": ["20"], "synonyms": ["Alternative titles", "HMG-CoA LYASE DEFICIENCY", "HMGCL DEFICIENCY", "HL DEFICIENCY", "HYDROXYMETHYLGLUTARIC ACIDURIA"]} |
A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain i... | Pontine autosomal dominant microangiopathy with leukoencephalopathy | None | 7,397 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477749 | 2021-01-23T18:10:24 | {"omim": ["618564"], "synonyms": ["PADMAL"]} |
## Summary
### Clinical characteristics.
ATP8B1 deficiency encompasses a phenotypic spectrum ranging from severe to intermediate to mild, based on an individual's clinical findings and laboratory test results, including liver biopsy.
Severe ATP8B1 deficiency is characterized by onset of symptoms of cholestasis (pr... | ATP8B1 Deficiency | c4551898 | 7,398 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1297/ | 2021-01-18T21:44:11 | {"mesh": ["C535933"], "synonyms": ["FIC1 Deficiency"]} |
Hürthle cell
Other namesAskanazy cell
Micrograph showing Hürthle cells in a Hürthle cell neoplasm. Pap stain.
Pronunciation
* /ˈhɪərtlə/
SpecialtyPathology
A Hürthle cell is a cell in the thyroid that is often associated with Hashimoto's thyroiditis[1] as well as benign and malignant tumors (Hürt... | Hürthle cell | c0949541 | 7,399 | wikipedia | https://en.wikipedia.org/wiki/H%C3%BCrthle_cell | 2021-01-18T18:42:25 | {"mesh": ["D018249"], "umls": ["C0949541"], "icd-10": ["C73.9"], "wikidata": ["Q4223446"]} |
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