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A number sign (#) is used with this entry because of evidence that 46,XY sex reversal-10 (SRXY10) is caused by heterozygous deletion of a 32.5-kb regulatory region (XYSR) -640 to -607 kb upstream of the SOX9 gene (608160) on chromosome 17q24.
Description
46,XY females with gonadal dysgenesis have streak gonads but ... | 46,XY SEX REVERSAL 10 | c2936694 | 1,800 | omim | https://www.omim.org/entry/616425 | 2019-09-22T15:48:55 | {"mesh": ["D006061"], "omim": ["616425"], "orphanet": ["242", "251510"], "synonyms": ["Alternative titles", "CHROMOSOME 17q24 DELETION SYNDROME"]} |
Myopericytoma
Other namesGlomangiopericytoma
Micrograph of a myopericytoma. H&E stain.
SpecialtyOncology
Myopericytoma is a rare perivascular soft tissue tumour. It is usually benign and typically in the distal extremities.[1]
It is thought to overlap with myofibroma.[2]
## See also[edit]
* Glomus tum... | Myopericytoma | c1302808 | 1,801 | wikipedia | https://en.wikipedia.org/wiki/Myopericytoma | 2021-01-18T18:52:38 | {"mesh": ["D000077777"], "umls": ["C1302808"], "orphanet": ["289685"], "wikidata": ["Q1956699"]} |
Barr et al. (1995) described 2 sisters with intrauterine growth retardation, shortness of all limbs, coronal craniosynostosis, micrognathia, absent or hypoplastic gallbladder, and hypoplastic ileum, lungs, uterus, and fallopian tubes. The older sister also manifested talon-like nails, bilateral absence of the mid... | CRANIOMICROMELIC SYNDROME | c1865184 | 1,802 | omim | https://www.omim.org/entry/602558 | 2019-09-22T16:13:34 | {"mesh": ["C566522"], "omim": ["602558"], "orphanet": ["1524"]} |
Wilms tumor is a form of kidney cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age of 10, with two-thirds being found before age 5.
Wilms tumor is often first noticed because of abdominal swelling or a mass in the kidney that can be felt upon physical examination... | Wilms tumor | c0027708 | 1,803 | medlineplus | https://medlineplus.gov/genetics/condition/wilms-tumor/ | 2021-01-27T08:25:51 | {"gard": ["8559", "7892"], "mesh": ["D009396"], "omim": ["194070", "194071", "194090", "601363", "601583", "616806"], "synonyms": []} |
Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with p... | Nance-Horan syndrome | c0796085 | 1,804 | gard | https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome | 2021-01-18T17:58:48 | {"mesh": ["C538336"], "omim": ["302350"], "umls": ["C0796085"], "orphanet": ["627"], "synonyms": ["Cataract dental syndrome", "Cataract X-linked with Hutchinsonian teeth", "Mesiodens cataract syndrome"]} |
A rare primary bone dysplasia characterized by short stature, joint laxity, vertebral anomalies, severe progressive spinal malalignment leading to spinal cord compression, progressive kyphoscoliosis, thoracic asymmetry, and elbow and foot deformities. Additional features include mild skin hyperelasticity, spatulate t... | Spondyloepimetaphyseal dysplasia with joint laxity | c0432243 | 1,805 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93359 | 2021-01-23T17:14:44 | {"gard": ["4982"], "mesh": ["C562968"], "omim": ["271640", "618395"], "umls": ["C0432243"], "icd-10": ["Q77.7"], "synonyms": ["SEMD-JL", "SEMDJL1", "Spondyloepimetaphyseal dysplasia with joint laxity type 1", "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type"]} |
For a phenotypic description and a discussion of genetic heterogeneity of alopecia areata, see 104000.
Mapping
In an effort to define a genetic basis of alopecia areata, Martinez-Mir et al. (2007) performed a genomewide search for linkage to 20 families with 102 affected and 118 unaffected individuals from the Unit... | ALOPECIA AREATA 2 | c0263505 | 1,806 | omim | https://www.omim.org/entry/610753 | 2019-09-22T16:04:10 | {"doid": ["986"], "mesh": ["C537055"], "omim": ["610753"], "orphanet": ["701", "700"]} |
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hi... | Congenital contractural arachnodactyly | c0220668 | 1,807 | medlineplus | https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly/ | 2021-01-27T08:25:47 | {"gard": ["5899"], "mesh": ["C536211"], "omim": ["121050"], "synonyms": []} |
Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, primarily affecting the joints. The most common signs and symptoms are pain, swelling, and stiffness of the joints. Small joints in the hands and feet are involved most often, although larger joints (such as the shoulders, hips, and knees) m... | Rheumatoid arthritis | c0003873 | 1,808 | medlineplus | https://medlineplus.gov/genetics/condition/rheumatoid-arthritis/ | 2021-01-27T08:24:45 | {"mesh": ["D001172"], "omim": ["180300"], "synonyms": []} |
Weimer (1949) described a family in which at least 1 male in 4 successive generations had bilateral inguinal hernia. Autosomal dominance with sex influence was suggested. Familial hernia was reported also by Edwards (1974) and by Simpson et al. (1974). Smith and Sparkes (1968) observed 2 brothers with atypical inguin... | HERNIA, DOUBLE INGUINAL | c0860251 | 1,809 | omim | https://www.omim.org/entry/142350 | 2019-09-22T16:40:20 | {"mesh": ["C563164"], "omim": ["142350"], "icd-10": ["K40"]} |
Patch-type granuloma annulare
SpecialtyDermatology
Patch-type granuloma annulare (also known as macular granuloma annulare) is a skin condition of unknown cause, more commonly affecting women between 30 and 70 years of age, characterized by flat or slightly palpable erythematous or red-brown skin lesions.[1]:7... | Patch-type granuloma annulare | None | 1,810 | wikipedia | https://en.wikipedia.org/wiki/Patch-type_granuloma_annulare | 2021-01-18T18:46:15 | {"wikidata": ["Q7144317"]} |
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prom... | Pterygium colli-intellectual disability-digital anomalies syndrome | c1838562 | 1,811 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2988 | 2021-01-23T18:29:38 | {"gard": ["4568"], "mesh": ["C535831"], "omim": ["600159"], "umls": ["C1838562"], "icd-10": ["Q87.0"], "synonyms": ["Khalifa-Graham syndrome"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-53 (MRD53) is caused by heterozygous mutation in the CAMK2A gene (114078) on chromosome 5q32.
Clinical Features
Kury et al. (2017) reported 14 unrelated patients of northern European descent or from the United S... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 | c4540481 | 1,812 | omim | https://www.omim.org/entry/617798 | 2019-09-22T15:44:45 | {"doid": ["0080228"], "omim": ["617798"], "orphanet": ["178469"], "synonyms": []} |
Wellens' syndrome
Other namesWellens' sign, Wellens' warning, Wellens' waves
EKG of a 69-year-old black male with Wellens' syndrome. Visible in leads V1-V4, here with a biphasic T-wave with negativisation.
SpecialtyCardiology
Wellens' syndrome is an electrocardiographic manifestation of critical proximal l... | Wellens' syndrome | c3874318 | 1,813 | wikipedia | https://en.wikipedia.org/wiki/Wellens%27_syndrome | 2021-01-18T19:08:52 | {"umls": ["C3874318"], "wikidata": ["Q7981210"]} |
## Description
Ocular coloboma is a developmental defect of the eye resulting from abnormal or incomplete fusion of the optic fissure. The defect can be unilateral or bilateral and can involve the cornea, iris, ciliary body, lens, choroid, retina, and/or optic nerves. Clinically, coloboma is often associated wi... | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 1 | c2931501 | 1,814 | omim | https://www.omim.org/entry/300345 | 2019-09-22T16:20:32 | {"mesh": ["C537463"], "omim": ["300345"], "orphanet": ["98938"], "synonyms": ["Alternative titles", "MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 1"]} |
Tracheoesophageal fistula
SpecialtyMedical genetics
A tracheoesophageal fistula (TEF, or TOF; see spelling differences) is an abnormal connection (fistula) between the esophagus and the trachea. TEF is a common congenital abnormality, but when occurring late in life is usually the sequela of surgical procedure... | Tracheoesophageal fistula | c0040588 | 1,815 | wikipedia | https://en.wikipedia.org/wiki/Tracheoesophageal_fistula | 2021-01-18T18:45:12 | {"gard": ["7792"], "mesh": ["D014138"], "umls": ["C0040588"], "icd-9": ["530.84", "750.3"], "icd-10": ["Q39.2", "Q39.1", "J95.0"], "orphanet": ["454750"], "wikidata": ["Q7831319"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant isolated mitochondrial myopathy (IMMD) is caused by heterozygous mutation in the CHCHD10 gene (615903) on chromosome 22q11. One such family has been reported.
Description
Autosomal dominant isolated mitochondrial myopathy is c... | MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT | c4015513 | 1,816 | omim | https://www.omim.org/entry/616209 | 2019-09-22T15:49:40 | {"omim": ["616209"], "orphanet": ["457050"], "synonyms": [], "genereviews": ["NBK304142"]} |
A number sign (#) is used with this entry because of evidence that radioulnar synostosis with amegakaryocytic thrombocytopenia-1 (RUSAT1) is caused by heterozygous mutation in the HOXA11 gene (142958) on chromosome 7p15.
Description
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterize... | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 | c1854273 | 1,817 | omim | https://www.omim.org/entry/605432 | 2019-09-22T16:11:16 | {"mesh": ["C565328"], "omim": ["605432"], "orphanet": ["71289"], "synonyms": ["Alternative titles", "RUSAT", "THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS"]} |
A number sign (#) is used with this entry because mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy (NNH), is caused by homozygous or compound heterozygous mutation in the MPV17 gene (137960) on chromosome 2p23.
Biallelic mutations in the MPV17 gene can also caused CMT2EE (618400... | MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) | c1850406 | 1,818 | omim | https://www.omim.org/entry/256810 | 2019-09-22T16:24:24 | {"doid": ["0080125"], "mesh": ["C538344"], "omim": ["256810"], "orphanet": ["255229"], "synonyms": ["Alternative titles", "NAVAJO NEUROHEPATOPATHY", "NAVAJO NEUROPATHY"], "genereviews": ["NBK92947", "NBK487393"]} |
A number sign (#) is used with this entry because biotinidase deficiency, a form of multiple carboxylase deficiency, is caused by homozygous or compound heterozygous mutation in the BTD gene (609019) on chromosome 3p25.
Description
Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder c... | BIOTINIDASE DEFICIENCY | c1854698 | 1,819 | omim | https://www.omim.org/entry/253260 | 2019-09-22T16:24:54 | {"doid": ["856"], "mesh": ["C565365"], "omim": ["253260"], "icd-10": ["D81.810"], "orphanet": ["79241"], "synonyms": ["Alternative titles", "BTD DEFICIENCY", "MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET", "MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET"], "genereviews": ["NBK1322"]} |
Muscle–eye–brain disease
Other namesMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 [1]
Muscle–eye–brain disease has an autosomal recessive inheritance.
SpecialtyNeurology
Usual onsetBirth or infancy
Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystrog... | Muscle–eye–brain disease | c0457133 | 1,820 | wikipedia | https://en.wikipedia.org/wiki/Muscle%E2%80%93eye%E2%80%93brain_disease | 2021-01-18T19:07:39 | {"gard": ["156"], "mesh": ["D058494"], "umls": ["C0457133"], "orphanet": ["588"], "wikidata": ["Q3508572"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Hh blood group" – news · newspapers · books · scholar · JSTOR (October 2019) (Learn how and when to remove this templat... | hh blood group | c1859408 | 1,821 | wikipedia | https://en.wikipedia.org/wiki/Hh_blood_group | 2021-01-18T18:56:55 | {"umls": ["C1859408"], "wikidata": ["Q545403"]} |
This article is about the history of human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS) in Australia. For a history of the disease worldwide, see AIDS pandemic.
The history of HIV/AIDS in Australia is distinctive, as Australian government bodies recognised and responded to the AIDS... | HIV/AIDS in Australia | None | 1,822 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Australia | 2021-01-18T18:34:48 | {"wikidata": ["Q5629819"]} |
Sinus venosus atrial septal defect
ASD locations. (1: upper sinus venosus defect; 2: lower sinus venosus defect.)
SpecialtyCardiac surgery
A sinus venosus atrial septal defect is a type of atrial septal defect primarily associated with the sinus venosus.
They represent 5% of atrial septal defects.[1]
T... | Sinus venosus atrial septal defect | c0344730 | 1,823 | wikipedia | https://en.wikipedia.org/wiki/Sinus_venosus_atrial_septal_defect | 2021-01-18T19:08:44 | {"gard": ["10696"], "mesh": ["C548009"], "umls": ["C0344730"], "icd-9": ["745.8"], "icd-10": ["Q21.1"], "orphanet": ["99105"], "wikidata": ["Q7525206"]} |
A number sign (#) is used with this entry because of evidence that Oliver-McFarlane syndrome (OMCS) is caused by compound heterozygous mutation in the PNPLA6 (603197) gene on chromosome 19p13.
Description
Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal... | OLIVER-MCFARLANE SYNDROME | c1848745 | 1,824 | omim | https://www.omim.org/entry/275400 | 2019-09-22T16:21:30 | {"doid": ["0111271"], "mesh": ["C536554"], "omim": ["275400"], "orphanet": ["3363"], "synonyms": ["Alternative titles", "TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA", "EYELASHES, LONG, WITH MENTAL RETARDATION"], "genereviews": ["NBK247161"]} |
A number sign (#) is used with this entry because primary ciliary dyskinesia-12 (CILD12) is caused by homozygous mutation in the RSPH9 gene (612648) on chromosome 6p21.
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Clinical Features
Castle... | CILIARY DYSKINESIA, PRIMARY, 12 | c2675228 | 1,825 | omim | https://www.omim.org/entry/612650 | 2019-09-22T16:00:57 | {"doid": ["0110601"], "mesh": ["C567211"], "omim": ["612650", "244400"], "orphanet": ["244"], "synonyms": ["Alternative titles", "CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS", "PCD"], "genereviews": ["NBK1122"]} |
Condition characterized by large amounts of dilute urine and increased thirst
Not to be confused with Diabetes.
Diabetes insipidus
Vasopressin
Pronunciation
* "Diabetes: /ˌdaɪ.əˈbiːtiːz/ or /ˌdaɪ.əˈbiːtɪs/
SpecialtyEndocrinology
SymptomsLarge amounts of dilute urine, increased thirst[1]
Complicati... | Diabetes insipidus | c0011848 | 1,826 | wikipedia | https://en.wikipedia.org/wiki/Diabetes_insipidus | 2021-01-18T18:49:48 | {"gard": ["11934"], "mesh": ["D003919"], "umls": ["C0011848"], "wikidata": ["Q220551"]} |
"Drool" redirects here. For the film, see Drool (film).
Drooling
Other namesSalivation, driveling, dribbling, slobbering, sialorrhea
A drooling Malamute
Drooling, or slobbering, is the flow of saliva outside the mouth. Drooling can be caused by excess production of saliva, inability to retain saliva wit... | Drooling | c0013132 | 1,827 | wikipedia | https://en.wikipedia.org/wiki/Drooling | 2021-01-18T18:58:53 | {"mesh": ["D012798"], "wikidata": ["Q18206654"]} |
A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
## Epidemiology
Incidence (average around 1/50,000 per year) and prevalence (average around 1/20,000) are relatively ... | Amyotrophic lateral sclerosis | c0002736 | 1,828 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=803 | 2021-01-23T18:12:31 | {"gard": ["5786"], "mesh": ["D000690"], "omim": ["105400", "205250", "300857", "606070", "606640", "608030", "608031", "608627", "611895", "612069", "612577", "613435", "613954", "614696", "614808", "615426", "615515", "616208", "616437", "617839", "617892"], "umls": ["C0002736"], "icd-10": ["G12.2"], "synonyms": ["ALS... |
Dyshidrosis
Other namesAcute vesiculobullous hand eczema,[1] dyshidrotic dermatitis,[2] cheiropompholyx,[3] dyshidrotic eczema,[3] pompholyx,[3] podopompholyx[3]
The characteristic vesicles of dyshidrosis on a finger
Pronunciation
* /ˌdɪshaɪˈdroʊsɪs/[4]
SpecialtyDermatology
SymptomsItchy blisters on... | Dyshidrosis | c0032633 | 1,829 | wikipedia | https://en.wikipedia.org/wiki/Dyshidrosis | 2021-01-18T18:59:42 | {"mesh": ["D011146"], "umls": ["C0032633"], "icd-10": ["L30.1"], "wikidata": ["Q1269276"]} |
A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-1 (GAMOS1) is caused by homozygous mutation in the WDR73 gene (616144) on chromosome 15q25.
Description
Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of ... | GALLOWAY-MOWAT SYNDROME 1 | c0795949 | 1,830 | omim | https://www.omim.org/entry/251300 | 2019-09-22T16:25:10 | {"doid": ["0060364"], "mesh": ["C537548"], "omim": ["251300"], "orphanet": ["2065"], "synonyms": ["Alternative titles", "MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME", "GALLOWAY SYNDROME", "NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME", "NEPHROSIS-MICROCEPHALY SYNDROME", "CEREBELLAR ATAXIA WITH MENTAL RETARDATION, O... |
Human and animal disease
Botulism
A 14-year-old with botulism, characterised by weakness of the eye muscles and the drooping eyelids shown in the left image, and dilated and non-moving pupils shown in the right image. This youth was fully conscious.
Pronunciation
* /ˈbɒtjʊlɪzəm/
SpecialtyInfectious dis... | Botulism | c0006057 | 1,831 | wikipedia | https://en.wikipedia.org/wiki/Botulism | 2021-01-18T18:57:11 | {"gard": ["943"], "mesh": ["D001906"], "umls": ["C0006057"], "icd-9": ["040.41", "005.1", "040.42"], "orphanet": ["1267"], "wikidata": ["Q154865"]} |
Pure hair-nail type ectodermal dysplasia
Other namesHair-nail ectodermal dysplasia
Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type.[1] Manifestations of this disorder include onychodys... | Pure hair-nail type ectodermal dysplasia | c1865951 | 1,832 | wikipedia | https://en.wikipedia.org/wiki/Pure_hair-nail_type_ectodermal_dysplasia | 2021-01-18T19:10:14 | {"mesh": ["C566592"], "umls": ["C1865951"], "orphanet": ["69084"], "wikidata": ["Q7261148"]} |
Melorheostosis
SpecialtyRheumatology
Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. The condition begins in childhood and is characterized by thickening of the bones. Pain is a frequent sympt... | Melorheostosis | c3149631 | 1,833 | wikipedia | https://en.wikipedia.org/wiki/Melorheostosis | 2021-01-18T18:56:48 | {"gard": ["9474"], "mesh": ["D008557"], "umls": ["C3149631"], "icd-9": ["733.99"], "icd-10": ["M85.8"], "orphanet": ["2485"], "wikidata": ["Q1127727"]} |
A rare, genetic hemoglobinopathy characterized by anemia and erythrocyte abnormalities including anisocytosis, poikilocytosis, target cells, and irreversibly sickled cells. Clinical course is similar to sickle cell disease, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vas... | Sickle cell-hemoglobin D disease syndrome | c0272084 | 1,834 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251370 | 2021-01-23T18:30:32 | {"gard": ["12458"], "umls": ["C0272084"], "icd-10": ["D57.2"], "synonyms": ["HbSD disease"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800).
Mapping
Working from the hypothesis that coinheritance of low-risk variants contributes to the 2-fold increased risk of glioma in relatives of individuals with primary brain tumors, Shete et al. (2009) condu... | GLIOMA SUSCEPTIBILITY 8 | c0017638 | 1,835 | omim | https://www.omim.org/entry/613033 | 2019-09-22T15:59:55 | {"mesh": ["D005910"], "omim": ["613033"], "orphanet": ["182067"]} |
Tendon rupture is a condition in which a tendon separates in whole or in part from tissue to which it is attached, or is itself torn or otherwise divided in whole or in part.[1][2]
Examples include:
* Achilles tendon rupture
* Biceps tendon rupture
* Anterior cruciate ligament injury
* Biceps femoris tendon... | Tendon rupture | c0151937 | 1,836 | wikipedia | https://en.wikipedia.org/wiki/Tendon_rupture | 2021-01-18T18:57:05 | {"umls": ["C0151937"], "wikidata": ["Q40889763"]} |
Stuve-Wiedemann syndrome (STWS) is a congenital skeletal (bone) dysplasia characterized by small stature, bowing of the long bones, and other skeletal anomalies. Patients often present with serious complications such as breathing and feeding difficulties and episodes of hyperthermia (elevated body temperature). The c... | Stuve-Wiedemann syndrome | c0796176 | 1,837 | gard | https://rarediseases.info.nih.gov/diseases/5045/stuve-wiedemann-syndrome | 2021-01-18T17:57:30 | {"mesh": ["C537502"], "omim": ["601559"], "umls": ["C0796176"], "orphanet": ["3206"], "synonyms": ["STWS", "Schwartz-Jampel syndrome type 2", "SJS2", "Schwartz-Jampel syndrome neonatal", "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome", "Neonatal Schwartz-Jampel syndrome type 2"]} |
Hallermann-Streiff syndrome (HSS) is a rare condition with characteristic features that are present at birth and become more apparent over time. Signs and symptoms include an unusually shaped skull, distinctive facial features, thin skin and hair, and eye and dental abnormalities. Other features include poor vision, ... | Hallermann-Streiff syndrome | c0018522 | 1,838 | gard | https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome | 2021-01-18T18:00:10 | {"mesh": ["D006210"], "omim": ["234100"], "umls": ["C0018522"], "orphanet": ["2108"], "synonyms": ["Hallermann Streiff syndrome", "HSS", "Hallermann Streiff Francois syndrome", "Francois dyscephalic syndrome", "François dyscephalic syndrome", "Oculomandibulofacial syndrome"]} |
## Summary
### Clinical characteristics.
Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of... | Arginase Deficiency | c0268548 | 1,839 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1159/ | 2021-01-18T21:42:52 | {"mesh": ["D020162"], "synonyms": ["ARG1 Deficiency", "Arginase-1 Deficiency", "Hyperargininemia"]} |
Eosinophilic gastroenteritis occurs when certain white blood cells known as eosinophils get into the digestive tract and cause damage. Symptoms of eosinophilic gastroenteritis usually start in adulthood and may include stomach pain, nausea, vomiting, and the inability to absorb nutrients from food. Sometimes, a block... | Eosinophilic gastroenteritis | c1262481 | 1,840 | gard | https://rarediseases.info.nih.gov/diseases/9142/eosinophilic-gastroenteritis | 2021-01-18T18:00:41 | {"mesh": ["C535952"], "orphanet": ["2070"], "synonyms": ["Eosinophilic gastritis", "Eosinophilic enteritis", "Eosinophilic gastroenteropathy", "Eosinophilic esophagitis", "EGE", "Eosinophilic gastroenterocolitis"]} |
## Clinical Features
Shaikh et al. (2005) reported 2 consanguineous Pakistani families with autosomal recessive deafness. All affected individuals exhibited prelingual bilateral profound hearing loss without obvious vestibular or ocular anomalies.
Mapping
By genomewide linkage analysis in a consanguineous Pakista... | DEAFNESS, AUTOSOMAL RECESSIVE 51 | c1864968 | 1,841 | omim | https://www.omim.org/entry/609941 | 2019-09-22T16:05:26 | {"doid": ["0110508"], "mesh": ["C538202"], "omim": ["609941"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]} |
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.
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... | Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome | c1848903 | 1,842 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2972 | 2021-01-23T17:48:37 | {"gard": ["5027"], "mesh": ["C536952", "C537496"], "omim": ["273050"], "umls": ["C1848903", "C2931509"], "synonyms": ["Stoelinga-de Koomen-Davis syndrome"]} |
Spinocerebellar ataxia 4 (SCA4) is a very rare form of hereditary progressive movement disorder. Symptoms include muscle weakness (atrophy) and difficulty coordinating body movements (ataxia), most notably causing a jerky, unsteady walking style (gait) and difficulty speaking (dysarthria). A distinctive feature of SC... | Spinocerebellar ataxia 4 | c0752122 | 1,843 | gard | https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4 | 2021-01-18T17:57:35 | {"mesh": ["D020754"], "omim": ["600223"], "umls": ["C0752122"], "orphanet": ["98765"], "synonyms": ["SCA4", "Spinocerebellar ataxia type 4", "Spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy"]} |
A number sign (#) is used with this entry because isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) can be caused by homozygous or compound heterozygous mutation in the TBX19 gene (604614) on chromosome 1q24.
Description
Congenital isolated adrenocorticotropic hormone deficiency is characterized by sever... | ACTH DEFICIENCY, ISOLATED | c0271583 | 1,844 | omim | https://www.omim.org/entry/201400 | 2019-09-22T16:31:28 | {"doid": ["0080150"], "mesh": ["C562707"], "omim": ["201400"], "orphanet": ["199296"], "synonyms": ["Alternative titles", "ADRENOCORTICOTROPIC HORMONE DEFICIENCY"]} |
Chondroid lipoma
SpecialtyDermatology
Chondroid lipomas are deep-seated, firm, yellow tumors that characteristically occur on the legs of women. They exhibit a characteristic translocation t(11;16) with a resulting C11orf95-MKL2 fusion oncogene.[1]:625 [2]
## See also[edit]
* Lipoma
* Skin lesion
* Lis... | Chondroid lipoma | c1266131 | 1,845 | wikipedia | https://en.wikipedia.org/wiki/Chondroid_lipoma | 2021-01-18T18:36:49 | {"umls": ["C1266131"], "wikidata": ["Q5104526"]} |
Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abno... | Ellis-Van Creveld syndrome | c0013903 | 1,846 | gard | https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome | 2021-01-18T18:00:43 | {"mesh": ["D004613"], "omim": ["225500"], "orphanet": ["289"], "synonyms": ["Chondroectodermal dysplasia", "Mesoectodermal dysplasia", "Ellis Van Creveld syndrome", "Mesodermic dysplasia"]} |
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Find sources: "Trinucleotide repeat disorder" – news · newspapers · books · scholar · JSTOR (December 2011) (Learn how and when to rem... | Trinucleotide repeat disorder | c0524894 | 1,847 | wikipedia | https://en.wikipedia.org/wiki/Trinucleotide_repeat_disorder | 2021-01-18T18:53:42 | {"mesh": ["D019680"], "wikidata": ["Q356736"]} |
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transm... | Coats plus syndrome | c2677299 | 1,848 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=313838 | 2021-01-23T18:17:23 | {"mesh": ["C567401"], "omim": ["612199", "617341"], "umls": ["C2677299"], "icd-10": ["H35.0"], "synonyms": ["CRMCC", "Cerebroretinal microangiopathy with calcifications and cysts"]} |
White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various parts of the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication prob... | White-Sutton syndrome | c4225351 | 1,849 | medlineplus | https://medlineplus.gov/genetics/condition/white-sutton-syndrome/ | 2021-01-27T08:24:46 | {"omim": ["616364"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Usher syndrome type IIIB (USH3B) is caused by homozygous mutation in the HARS gene (HARS1; 142810) on chromosome 5q31.
Description
Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, an... | USHER SYNDROME, TYPE IIIB | c0271097 | 1,850 | omim | https://www.omim.org/entry/614504 | 2019-09-22T15:55:06 | {"doid": ["0110842"], "mesh": ["D052245"], "omim": ["614504"], "orphanet": ["886", "231183"]} |
A number sign (#) is used with this entry because autosomal recessive spastic ataxia-3 (SPAX3) is caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene (609728) on chromosome 2q33.
For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).
Clinic... | SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE | c1969645 | 1,851 | omim | https://www.omim.org/entry/611390 | 2019-09-22T16:03:21 | {"doid": ["0050942"], "mesh": ["C566956"], "omim": ["611390"], "orphanet": ["314603"], "synonyms": ["Alternative titles", "AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY"]} |
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template... | Autosomal dominant Charcot-Marie-Tooth disease type 2J | c1843153 | 1,852 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99943 | 2021-01-23T17:26:35 | {"gard": ["9198"], "mesh": ["C535417"], "omim": ["607736"], "umls": ["C1843153"], "icd-10": ["G60.0"], "synonyms": ["CMT2J"]} |
A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory muco... | Leishmaniasis | c0023281 | 1,853 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=507 | 2021-01-23T18:08:52 | {"gard": ["6881"], "mesh": ["D007896"], "omim": ["608207"], "umls": ["C0023281"], "icd-10": ["B55.0", "B55.1", "B55.2", "B55.9"]} |
Shoulder arthritis can be one of three types of arthritis in the glenohumeral joint of the shoulder. The glenohumeral joint is a ball and socket joint, which relies on cartilage to move smoothly and to operate normally.
## Contents
* 1 Forms
* 2 Symptoms
* 3 Diagnosis
* 4 Treatment
* 5 Cryotherapy
* 6 R... | Shoulder arthritis | c1298682 | 1,854 | wikipedia | https://en.wikipedia.org/wiki/Shoulder_arthritis | 2021-01-18T18:30:42 | {"wikidata": ["Q7502694"]} |
Retinal migraine
Other namesOphthalmic migraine, and Ocular migraine
Connections with migraine
SpecialtyNeurology
CausesStress, smoking, high blood pressure, oral contraceptive pill, exercise, bending over, high altitude, dehydration, low blood sugar, excessive heat
FrequencyVaries from person to person
M... | Retinal migraine | c0270861 | 1,855 | wikipedia | https://en.wikipedia.org/wiki/Retinal_migraine | 2021-01-18T18:54:04 | {"umls": ["C0270861"], "icd-10": ["G43.8"], "wikidata": ["Q2736368"]} |
Senile osteoporosis
Other namesOsteoporosis type II
Senile osteoporosis has been recently recognized as a geriatric syndrome with a particular pathophysiology. There are different classification of osteoporosis: primary, in which bone loss is a result of aging and secondary, in which bone loss occurs from ... | Senile osteoporosis | c0029459 | 1,856 | wikipedia | https://en.wikipedia.org/wiki/Senile_osteoporosis | 2021-01-18T18:37:05 | {"mesh": ["D010024"], "umls": ["C0029459"], "wikidata": ["Q17152799"]} |
Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).
## Epidemiology
The Uni... | Rhabdoid tumor | c0206743 | 1,857 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69077 | 2021-01-23T18:13:51 | {"gard": ["7572"], "mesh": ["D018335"], "omim": ["609322", "613325"], "umls": ["C0206743"], "icd-10": ["C49.9"], "synonyms": ["Malignant rhabdoid tumor"]} |
A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements w... | Malignant teratoma of ovary | c0346182 | 1,858 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=398987 | 2021-01-23T18:13:55 | {"icd-10": ["C56"], "synonyms": ["Immature teratoma of ovary", "Ovarian immature teratoma", "Ovarian malignant teratoma"]} |
A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull.
... | Chordoma | c0008487 | 1,859 | gard | https://rarediseases.info.nih.gov/diseases/1303/chordoma | 2021-01-18T18:01:27 | {"mesh": ["D002817"], "omim": ["215400"], "umls": ["C0008487"], "orphanet": ["178"], "synonyms": []} |
Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.
## Epidemiology
Prevalence is unknown but 3 cases have been reported to date.
## Clinical description
Onset of t... | Lethal acantholytic epidermolysis bullosa | c1864826 | 1,860 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158687 | 2021-01-23T18:24:48 | {"gard": ["9910"], "mesh": ["C535493"], "omim": ["609638"], "umls": ["C1864826"], "icd-10": ["Q81.0"], "synonyms": ["LAEB"]} |
Flynn–Aird syndrome
Flynn–Aird syndrome has an autosomal dominant pattern of inheritance.
Flynn–Aird syndrome is a rare, hereditary, neurological disease that is inherited in an autosomal dominant fashion. The syndrome involves defects in the nervous, auditory, skeletal, visual, and endocrine systems and encom... | Flynn–Aird syndrome | c0343108 | 1,861 | wikipedia | https://en.wikipedia.org/wiki/Flynn%E2%80%93Aird_syndrome | 2021-01-18T19:06:11 | {"gard": ["2347"], "mesh": ["C537066"], "umls": ["C0343108"], "orphanet": ["2047"], "wikidata": ["Q5463653"]} |
Familial hypertriglyceridemia
Familial hypertriglyceridemia is inherited in autosomal dominant manner
Familial hypertriglyceridemia (type IV familial dyslipidemia) is a genetic disorder characterized by the liver overproducing very-low-density lipoproteins (VLDL). As a result, an afflicted individual will have... | Familial hypertriglyceridemia | c0020480 | 1,862 | wikipedia | https://en.wikipedia.org/wiki/Familial_hypertriglyceridemia | 2021-01-18T19:00:17 | {"mesh": ["D006953"], "wikidata": ["Q5432941"]} |
Lees et al. (1964) described a kindred in 5 generations of which 12 males and 3 females were affected with optic neuritis accompanied in some by neurologic manifestations resembling disseminated sclerosis. One had ataxia, right leg weakness and dysarthria. Another developed left hemiparesis during a 2-week period... | OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS | c1833830 | 1,863 | omim | https://www.omim.org/entry/165200 | 2019-09-22T16:37:07 | {"mesh": ["C563496"], "omim": ["165200"], "orphanet": ["99718"], "synonyms": ["LHON plus disease"]} |
Klumpke paralysis is a rare type of birth injury to the nerves around a newborn’s shoulder, known as the brachial plexus. Most types of brachial plexus injuries affect the shoulder and upper arm. Klumpke paralysis affects the movement of the lower arm and hand. Signs and symptoms include weakness and loss of movement... | Klumpke paralysis | c0270898 | 1,864 | gard | https://rarediseases.info.nih.gov/diseases/3123/klumpke-paralysis | 2021-01-18T17:59:34 | {"mesh": ["D020516"], "umls": ["C0270898"], "synonyms": ["Lower brachial plexus palsy", "Dejerine-Klumpke palsy", "Klumpke's palsy"]} |
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mai... | Von Willebrand disease type 2N | c1282975 | 1,865 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166093 | 2021-01-23T19:12:49 | {"mesh": ["D056728"], "omim": ["613554"], "umls": ["C1282975"], "icd-10": ["D68.0"]} |
A number sign (#) is used with this entry because of evidence that the Davignon-Chauveau type of congenital muscular dystrophy (MDCDC) is caused by homozygous mutation in the TRIP4 gene (604501) on chromosome 15q22. One such family has been reported.
Clinical Features
Davignon et al. (2016) reported a large consang... | MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE | c4310736 | 1,866 | omim | https://www.omim.org/entry/617066 | 2019-09-22T15:46:58 | {"omim": ["617066"], "orphanet": ["486815"], "synonyms": ["Congenital muscular dystrophy, Davignon-Chauveau type"]} |
"Adrenal hyperplasia" redirects here. You may also be interested in primary aldosteronism or Cushing's syndrome.
Congenital adrenal hyperplasia
SpecialtyEndocrinology
SymptomsExcessive urination of sodium, virilism, early, delayed, or absent puberty, hyperandrogenism
Usual onsetBefore birth
DurationLifetime ... | Congenital adrenal hyperplasia | c0701163 | 1,867 | wikipedia | https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia | 2021-01-18T18:31:15 | {"gard": ["1465", "1467"], "mesh": ["D000312"], "umls": ["C0701163"], "orphanet": ["418"], "wikidata": ["Q366868"]} |
Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have ... | Glucose transporter type 1 deficiency syndrome | c1847501 | 1,868 | gard | https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome | 2021-01-18T18:00:18 | {"mesh": ["C536830"], "omim": ["606777"], "umls": ["C1847501"], "orphanet": ["71277"], "synonyms": ["GLUT1 deficiency syndrome", "Encephalopathy due to GLUT1 deficiency", "Glucose transport defect, blood-brain barrier", "De Vivo disease", "GLUT-1 deficiency syndrome", "Glucose transporter protein syndrome", "GLUT1 DS",... |
White blood cell abnormality
Alder–Reilly anomaly, or Alder anomaly, is an inherited abnormality of white blood cells associated with mucopolysaccharidosis. When blood smears and bone marrow preparations from patients with Alder–Reilly anomaly are stained and examined microscopically, large, coarse granules may be s... | Alder–Reilly anomaly | None | 1,869 | wikipedia | https://en.wikipedia.org/wiki/Alder%E2%80%93Reilly_anomaly | 2021-01-18T18:43:48 | {"wikidata": ["Q85740606"]} |
A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.
## Epidemiology
Prevalence of this form of galactosemia is not known but is estimated to be less th... | Galactokinase deficiency | c0268155 | 1,870 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79237 | 2021-01-23T19:04:14 | {"gard": ["2422"], "mesh": ["C535999", "D005693"], "omim": ["230200"], "umls": ["C0268155", "C0751158"], "icd-10": ["E74.2"], "synonyms": ["GALK deficiency", "GALK-D", "Galactokinase deficiency galactosemia", "Galactosemia type 2"]} |
A number sign (#) is used with this entry because this disorder is caused by mutation in the gene encoding mitochondrial cytochrome b (MTCYB; 516020).
Description
Histiocytoid cardiomyopathy, which was initially described by Voth (1962), goes by various names, including infantile xanthomatous cardiomyopathy (MacMah... | CARDIOMYOPATHY, INFANTILE HISTIOCYTOID | c1708371 | 1,871 | omim | https://www.omim.org/entry/500000 | 2019-09-22T16:16:59 | {"doid": ["0080198"], "mesh": ["C535584"], "omim": ["500000"], "orphanet": ["137675"], "synonyms": ["Alternative titles", "CARDIOMYOPATHY, INFANTILE XANTHOMATOUS", "CARDIOMYOPATHY, FOCAL LIPID", "CARDIOMYOPATHY, ONCOCYTIC", "FOAMY MYOCARDIAL TRANSFORMATION OF INFANCY"]} |
Poikiloderma vasculare atrophicans
Other namesParapsoriasis variegata[1] or Parapsoriasis lichenoides[2]
Typical skin changes and discoloration described as poikiloderma vasculare atrophicans
SpecialtyDermatology
Poikiloderma vasculare atrophicans (PVA), is a cutaneous condition (skin disease) characterize... | Poikiloderma vasculare atrophicans | c0263369 | 1,872 | wikipedia | https://en.wikipedia.org/wiki/Poikiloderma_vasculare_atrophicans | 2021-01-18T18:51:07 | {"icd-9": ["696.2"], "icd-10": ["L94.5"], "wikidata": ["Q7207847"]} |
Herbst (1936) described a kindred in which 18 persons in 4 generations had a median groove or split in the lower lip. The upper lip was fleshy and moderately everted but only 1 of the examined persons had a median cleft of the upper lip. The maxilla was narrow and the teeth crowded and irregularly aligned. Gorlin... | SPLIT LOWER LIP | c1866743 | 1,873 | omim | https://www.omim.org/entry/183400 | 2019-09-22T16:34:28 | {"omim": ["183400"]} |
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.
*[v]: View this t... | GMS syndrome | c1841854 | 1,874 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2090 | 2021-01-23T18:10:44 | {"gard": ["2523"], "mesh": ["C564214"], "omim": ["138770"], "umls": ["C1841854"], "icd-10": ["Q87.8"], "synonyms": ["Goniodysgenesis-intellectual disability-short stature syndrome"]} |
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).
Mapping
Kugathasan et al. (2008) carried out a genomewide association analysis in a cohort of 1,011 individuals with pediatric-onset I... | INFLAMMATORY BOWEL DISEASE 24 | c2675509 | 1,875 | omim | https://www.omim.org/entry/612566 | 2019-09-22T16:01:11 | {"mesh": ["C567252"], "omim": ["612566"]} |
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be chall... | Bacillary dysentery | c1527298 | 1,876 | wikipedia | https://en.wikipedia.org/wiki/Bacillary_dysentery | 2021-01-18T18:49:50 | {"mesh": ["D004405"], "umls": ["C1527298"], "icd-9": ["004"], "icd-10": ["A03.9"], "wikidata": ["Q3778137"]} |
Compression of umbilical cord
A knotted cord on a newborn baby.
SpecialtyObstetrics
Umbilical cord compression is the obstruction of blood flow through the umbilical cord secondary to pressure from an external object or misalignment of the cord itself. Cord compression happens in about one in 10 deliveri... | Umbilical cord compression | c0266798 | 1,877 | wikipedia | https://en.wikipedia.org/wiki/Umbilical_cord_compression | 2021-01-18T18:59:10 | {"icd-9": ["762.5"], "icd-10": ["P02.5"], "wikidata": ["Q7881314"]} |
A number sign (#) is used with this entry because bilateral perisylvian polymicrogyria with autosomal recessive inheritance is caused by homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene (604110) on chromosome 16q21. Mutations in the ADGRG1 gene also cause bilater... | POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE | c1845668 | 1,878 | omim | https://www.omim.org/entry/615752 | 2019-09-22T15:51:04 | {"mesh": ["C536658"], "omim": ["615752"], "orphanet": ["268940", "98889"], "synonyms": ["Alternative titles", "PMGR"], "genereviews": ["NBK1329"]} |
Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual di... | Isolated focal cortical dysplasia | c1846385 | 1,879 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65683 | 2021-01-23T18:41:16 | {"mesh": ["C537067"], "omim": ["607341"], "umls": ["C1846385", "C2938983"], "icd-10": ["Q04.8"], "synonyms": ["Epilepsy due to FCD"]} |
Kaler et al. (1992) described 2 Mennonite sisters with a syndrome of sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity, and hypotonia. Their asymptomatic consanguineous parents had 6 other offspring, 3 of whom died in infancy of type II osteogenesis imperfecta and 3 of whom were no... | OSTEOPENIA AND SPARSE HAIR | c1850140 | 1,880 | omim | https://www.omim.org/entry/259690 | 2019-09-22T16:23:51 | {"mesh": ["C537706"], "omim": ["259690"], "orphanet": ["2324"]} |
A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any raci... | Giant congenital nevus | c1318558 | 1,881 | gard | https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus | 2021-01-18T18:00:20 | {"omim": ["137550"], "orphanet": ["626"], "synonyms": ["GPHN", "Giant pigmented hairy nevus", "Giant pigmented nevus", "Bathing trunk nevus", "Large congenital melanocytic nevus", "Congenital giant pigmented nevus", "Giant hairy nevus", "Congenital hairy nevus", "Giant congenital melanocytic nevus"]} |
A number sign (#) is used with this entry because the autosomal recessive form of Kenny-Caffey syndrome (KCS1) is caused by mutation in the gene encoding tubulin-specific chaperone E (TBCE; 604934).
Biallelic mutation in the TBCE gene can also cause Sanjad-Sakati syndrome (HRDS; 241410) and PEAMO (617207).
Inherita... | KENNY-CAFFEY SYNDROME, TYPE 1 | c0265291 | 1,882 | omim | https://www.omim.org/entry/244460 | 2019-09-22T16:26:14 | {"mesh": ["C537020"], "omim": ["244460"], "orphanet": ["2333", "93324"], "synonyms": ["Alternative titles", "KCS", "KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE"]} |
A number sign (#) is used with this entry because occipital horn syndrome (OHS) is caused by mutation in the gene encoding Cu(2+)-transporting ATPase, alpha polypeptide (ATP7A; 300011). Menkes syndrome (309400) is caused by mutation in the same gene.
Description
Occipital horn syndrome is a rare connective tissue d... | OCCIPITAL HORN SYNDROME | c0268353 | 1,883 | omim | https://www.omim.org/entry/304150 | 2019-09-22T16:18:28 | {"doid": ["0111272"], "mesh": ["C537860"], "omim": ["304150"], "orphanet": ["198"], "synonyms": ["Alternative titles", "CUTIS LAXA, X-LINKED, FORMERLY", "EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY", "EDS IX, FORMERLY", "EDS9, FORMERLY"], "genereviews": ["NBK1413"]} |
Supracondylar humerus fracture
An elbow X-ray showing a displaced supracondylar fracture in a young child
SpecialtyOrthopedic
A supracondylar humerus fracture is a fracture of the distal humerus just above the elbow joint. The fracture is usually transverse or oblique and above the medial and lateral condyle... | Supracondylar humerus fracture | c0347788 | 1,884 | wikipedia | https://en.wikipedia.org/wiki/Supracondylar_humerus_fracture | 2021-01-18T19:08:00 | {"umls": ["C0347788"], "icd-9": ["812.51", "812.41"], "icd-10": ["S42.4"], "wikidata": ["Q7644671"]} |
Multifocal motor neuropathy (MMN) is a rare neuropathy characterized by progressive, asymmetric muscle weakness and atrophy (wasting). Signs and symptoms may include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; wrist drop or foot drop, and atrophy of affected muscles. MMN... | Multifocal motor neuropathy | c0393847 | 1,885 | gard | https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy | 2021-01-18T17:58:55 | {"orphanet": ["641"], "synonyms": ["MMN", "MMNCB", "Multifocal motor neuropathy with conduction block"]} |
Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.
*[v]: ... | Dicarboxylic aminoaciduria | c1857253 | 1,886 | gard | https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria | 2021-01-18T18:00:53 | {"mesh": ["C536171"], "omim": ["222730"], "umls": ["C1857253"], "orphanet": ["2195"], "synonyms": ["Glutamate-aspartate transport defect", "Dicarboxylicaminoaciduria"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (December 2015) (Learn how and when to remove this template message)
Adams–Oliver syndrome ... | Adams–Oliver syndrome | c0265268 | 1,887 | wikipedia | https://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome | 2021-01-18T18:38:58 | {"gard": ["5739"], "mesh": ["C538225"], "umls": ["C0265268"], "orphanet": ["974"], "wikidata": ["Q351708"]} |
A slow virus is a virus, or a viruslike agent, etiologically associated with a slow virus disease. A slow virus disease is a disease that, after an extended period of latency, follows a slow, progressive course spanning months to years, frequently involves the central nervous system, and in most cases progresses ... | Slow virus | c0037341 | 1,888 | wikipedia | https://en.wikipedia.org/wiki/Slow_virus | 2021-01-18T18:33:54 | {"mesh": ["D012897"], "wikidata": ["Q7542129"]} |
The features of pars planitis are vitritis with peripheral retinal vasculitis, snowbank exudates, and vitreous condensation over the inferior peripheral retina and pars plana, usually in both eyes. Familial pars planitis was first reported by Culbertson et al. (1983) who described 9 affected members of 4 families: tw... | PARS PLANITIS | c0030593 | 1,889 | omim | https://www.omim.org/entry/606177 | 2019-09-22T16:10:35 | {"doid": ["12731"], "mesh": ["D015868"], "omim": ["606177"], "icd-9": ["363.21"], "icd-10": ["H30.2"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 31 (MC1DN31) is caused by homozygous mutation in the TIMMDC1 gene (615534) on chromosome 3q13.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Clinical Feat... | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 | c2936907 | 1,890 | omim | https://www.omim.org/entry/618251 | 2019-09-22T15:42:48 | {"mesh": ["C537475"], "omim": ["618251"], "orphanet": ["2609"]} |
## Clinical Features
Le Ber et al. (2006) described 12 male patients from 8 unrelated families with dystonia and cerebellar atrophy. Mean age at onset was 27 years (range, 9 to 42). Eight patients had a similar phenotype with spasmodic dysphonia at onset and cerebellar atrophy on brain MRI. The 4 other patients had... | DYSTONIA WITH CEREBELLAR ATROPHY | c2673697 | 1,891 | omim | https://www.omim.org/entry/611694 | 2019-09-22T16:03:01 | {"mesh": ["C567131"], "omim": ["611694"]} |
Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other co... | Mosaic trisomy 5 | c2931603 | 1,892 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96060 | 2021-01-23T17:17:48 | {"mesh": ["C537762"], "icd-10": ["Q92.1"], "synonyms": ["Mosaic trisomy chromosome 5", "Trisomy 5 mosaicism"]} |
Myxoid chondrosarcoma
SpecialtyOncology
Myxoid chondrosarcoma is a type of chondrosarcoma.[1]
It has been associated with a t(9;22) (q22;q12) EWS/CHN gene fusion.[2]
## References[edit]
1. ^ Goh YW, Spagnolo DV, Platten M, et al. (November 2001). "Extraskeletal myxoid chondrosarcoma: a light microscopic, ... | Myxoid chondrosarcoma | c0334551 | 1,893 | wikipedia | https://en.wikipedia.org/wiki/Myxoid_chondrosarcoma | 2021-01-18T18:56:05 | {"umls": ["C0334551"], "wikidata": ["Q17047222"]} |
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. (September 2017)
Renal anaplastic sarcoma
SpecialtyUrology, oncology
Renal anaplastic sarcoma is a rare tumour of the kidney.[1][2] By 2017 abo... | Renal anaplastic sarcoma | None | 1,894 | wikipedia | https://en.wikipedia.org/wiki/Renal_anaplastic_sarcoma | 2021-01-18T18:49:43 | {"umls": ["CL555408"], "wikidata": ["Q56291604"]} |
Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.
## Epidemiology
RE is the most common c... | Rolandic epilepsy | c0376532 | 1,895 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1945 | 2021-01-23T19:05:44 | {"gard": ["10287"], "mesh": ["D019305"], "omim": ["117100", "245570"], "umls": ["C0376532", "C2363129"], "icd-10": ["G40.0"], "synonyms": ["BECRS", "BECTS", "BRE", "Benign epilepsy of childhood with centrotemporal spikes", "Benign familial epilepsy of childhood with rolandic spikes", "Benign rolandic epilepsy", "Centro... |
Change in the action or side effects of a drug caused
This article may need to be rewritten to comply with Wikipedia's quality standards. You can help. The talk page may contain suggestions. (February 2019)
This article's tone or style may not reflect the encyclopedic tone used on Wikipedia. See Wikipedia's gui... | Drug interaction | c0687133 | 1,896 | wikipedia | https://en.wikipedia.org/wiki/Drug_interaction | 2021-01-18T18:53:33 | {"mesh": ["D004347"], "wikidata": ["Q718753"]} |
A number sign (#) is used with this entry because of evidence that diaphragmatic hernia-3 (DIH3) is caused by heterozygous mutation in the ZFPM2 gene (603693) on chromosome 8q23.
For a general phenotypic description and a discussion of genetic heterogeneity of congenital diaphragmatic hernia, see (142340).
Clin... | DIAPHRAGMATIC HERNIA 3 | c0235833 | 1,897 | omim | https://www.omim.org/entry/610187 | 2019-09-22T16:04:59 | {"doid": ["3827"], "mesh": ["D065630"], "omim": ["610187"], "orphanet": ["2140"]} |
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
## Epidemiology
So far, it has been described in 13 members of a large Tunisian family.
## Clinical description
Onset occurred during the first de... | Charcot-Marie-Tooth disease type 2H | c1843173 | 1,898 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101102 | 2021-01-23T18:11:59 | {"gard": ["9196"], "mesh": ["C535415"], "omim": ["607731"], "umls": ["C1843173"], "icd-10": ["G60.0"], "synonyms": ["AR-CMT2C", "Autosomal recessive axonal CMT4C2", "Axonal Charcot-Marie-Tooth disease with pyramidal involvement", "CMT2H"]} |
AIDS awareness sign in Rwanda
Rwanda faces a generalized epidemic, with an HIV prevalence rate of 3.1 percent among adults ages 15 to 49. The prevalence rate has remained relatively stable, with an overall decline since the late 1990s, partly due to improved HIV surveillance methodology. In general, HIV prevalence i... | HIV/AIDS in Rwanda | None | 1,899 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Rwanda | 2021-01-18T18:41:46 | {"wikidata": ["Q11349126"]} |
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