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Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Some people with this condition have an enlarg... | Hereditary elliptocytosis | c0013902 | 1,100 | gard | https://rarediseases.info.nih.gov/diseases/6621/hereditary-elliptocytosis | 2021-01-18T18:00:03 | {"mesh": ["D004612"], "umls": ["C0013902"], "orphanet": ["288"], "synonyms": []} |
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that leads to the growth of both non-cancerous and cancerous tumors. Symptoms of BRRS may include large head size, increased birth weight, developmental delay, and intellectual disability. Other symptoms include the appearance of non-cancerous tumors in ... | Bannayan-Riley-Ruvalcaba syndrome | c0265326 | 1,101 | gard | https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome | 2021-01-18T18:01:54 | {"mesh": ["D006223"], "omim": ["158350"], "umls": ["C0265326"], "orphanet": ["109"], "synonyms": ["BRRS", "Riley-Smith syndrome", "Macrocephaly multiple lipomas and hemangiomata", "Ruvalcaba -Myhre-Smith syndrome", "RMSS", "Bannayan-Zonana syndrome", "BZS", "Macrocephaly pseudopapilledema and multiple hemangiomas"]} |
Albuminuria
SpecialtyNephrology
Albuminuria is a pathological condition wherein the protein albumin is abnormally present in the urine. It is a type of proteinuria. Albumin is a major plasma protein (normally circulating in the blood); in healthy people, only trace amounts of it are present in urine, whereas l... | Albuminuria | c0001925 | 1,102 | wikipedia | https://en.wikipedia.org/wiki/Albuminuria | 2021-01-18T18:50:58 | {"mesh": ["D000419"], "umls": ["C0001925"], "wikidata": ["Q974792"]} |
A number sign (#) is used with this entry because of evidence that ventriculomegaly with cystic kidney disease (VMCKD) is caused by homozygous or compound heterozygous mutation in the CRB2 gene (609720) on chromosome 9q33.
Biallelic mutation in the CRB2 gene can also cause isolated focal segmental glomeruloscler... | VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE | c1857423 | 1,103 | omim | https://www.omim.org/entry/219730 | 2019-09-22T16:29:01 | {"mesh": ["C565657"], "omim": ["219730"], "orphanet": ["443988"]} |
Condition in which severely overweight people fail to breathe rapidly or deeply enough
Obesity hypoventilation syndrome
Other namesPickwickian syndrome
Obesity hypoventilation syndrome often improves with positive airway pressure treatment administered overnight by a machine such as this device
SpecialtyRespir... | Obesity hypoventilation syndrome | c0031880 | 1,104 | wikipedia | https://en.wikipedia.org/wiki/Obesity_hypoventilation_syndrome | 2021-01-18T18:37:40 | {"mesh": ["D010845"], "umls": ["C0031880"], "icd-9": ["278.03"], "icd-10": ["E66.2"], "wikidata": ["Q202394"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant dilated cardiomyopathy-1G (CMD1G) is caused by heterozygous mutation in the titin gene (TTN; 188840) on chromosome 2q31.
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (... | CARDIOMYOPATHY, DILATED, 1G | c0340427 | 1,105 | omim | https://www.omim.org/entry/604145 | 2019-09-22T16:12:27 | {"doid": ["0110430"], "mesh": ["C536231"], "omim": ["604145"], "orphanet": ["154"], "genereviews": ["NBK1309"]} |
Lachiewicz–Sibley syndrome is a rare autosomal dominant disorder characterized by preauricular pits and renal disease. Persons with this disease may have hypoplasic kidneys or proteinuria. This disease was first described in a Caucasian family of British and Irish descent that emigrated to Ohio in the 19th century be... | Lachiewicz–Sibley syndrome | c2931742 | 1,106 | wikipedia | https://en.wikipedia.org/wiki/Lachiewicz%E2%80%93Sibley_syndrome | 2021-01-18T18:54:07 | {"gard": ["3157"], "mesh": ["C538131"], "umls": ["C2931742"], "wikidata": ["Q6468402"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 (605462).
Mapping
In a genomewide SNP association study of 930 Icelanders with BCC and 33,117 controls, Stacey et al. (2008) observed signals from loci at chromosomes 1p36 (BCC1; 605462) and 1q42. Th... | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 2 | c2751606 | 1,107 | omim | https://www.omim.org/entry/613058 | 2019-09-22T15:59:54 | {"omim": ["613058"]} |
Aggressive periodontitis describes a type of periodontal disease and includes two of the seven classifications of periodontitis as defined by the 1999 classification system:[1]
1. Localized aggressive periodontitis (LAP)
2. Generalized aggressive periodontitis (GAP)
LAP is localised to first molar or incisor in... | Aggressive periodontitis | c0031106 | 1,108 | wikipedia | https://en.wikipedia.org/wiki/Aggressive_periodontitis | 2021-01-18T18:45:27 | {"mesh": ["D010520"], "umls": ["C0031106"], "wikidata": ["Q4692285"]} |
See GGTQTL2 (612366) on chromosome 12q24 for another locus associated with the plasma level of gamma glutamyltransferase.
Mapping
Bathum et al. (2001) found evidence for a substantial genetic influence on the plasma level of gamma glutamyltransferase (GGT, or GGT1; 612346). Heritability ranged from 35 to 61% am... | GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 | c2676495 | 1,109 | omim | https://www.omim.org/entry/612365 | 2019-09-22T16:01:47 | {"omim": ["612365"], "synonyms": ["Alternative titles", "GGTQTL1"]} |
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.
## Epidemiology
It has been described in a brother and his sister born to first-cousin parents.
## Genetic counseling
It is likely to be transmitted as an autosomal recessi... | Deafness-vitiligo-achalasia syndrome | c1857339 | 1,110 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3239 | 2021-01-23T18:58:06 | {"gard": ["1705"], "mesh": ["C565642"], "omim": ["221350"], "umls": ["C1857339"], "icd-10": ["Q87.8"], "synonyms": ["Hearing loss-vitiligo-achalasia syndrome"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-53 (DFNB53) is caused by homozygous mutation in the COL11A2 gene (120290) on chromosome 6p21.
Clinical Features
Chen et al. (2005) reported a consanguineous Iranian family with a prelingual, profound, nonprogressive, and... | DEAFNESS, AUTOSOMAL RECESSIVE 53 | c1864746 | 1,111 | omim | https://www.omim.org/entry/609706 | 2019-09-22T16:05:45 | {"doid": ["0110509"], "mesh": ["C566453"], "omim": ["609706"], "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"]} |
A number sign (#) is used with this entry because of evidence that Alagille syndrome-2 (ALGS2) is caused by heterozygous mutation in the NOTCH2 gene (600275) on chromosome 1p12.
For a general phenotypic description and a discussion of genetic heterogeneity of Alagille syndrome, see ALGS1 (118450).
Clinical Features... | ALAGILLE SYNDROME 2 | c0085280 | 1,112 | omim | https://www.omim.org/entry/610205 | 2019-09-22T16:04:57 | {"doid": ["9245"], "mesh": ["D016738"], "omim": ["610205"], "orphanet": ["52", "261629"], "genereviews": ["NBK1273"]} |
A number sign (#) is used with this entry because Bowen-Conradi syndrome (BWCNS) is caused by homozygous mutation in the EMG1 gene (611531) on chromosome 12p13.
Clinical Features
Among the offspring of second-cousin Hutterite parents, Bowen and Conradi (1976) described 2 males with a distinctive syndrome: prominent... | BOWEN-CONRADI SYNDROME | c1859405 | 1,113 | omim | https://www.omim.org/entry/211180 | 2019-09-22T16:30:21 | {"doid": ["0050684"], "mesh": ["C537081"], "omim": ["211180"], "orphanet": ["1270"], "synonyms": ["Alternative titles", "BOWEN HUTTERITE SYNDROME, FORMERLY"]} |
A rare respiratory malformation characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological ... | Congenital pulmonary airway malformation | c0010668 | 1,114 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2444 | 2021-01-23T18:43:13 | {"mesh": ["D015615"], "umls": ["C0010668", "C0158641"], "icd-10": ["Q33.0"], "synonyms": ["CCAM", "CPAM", "Congenital cystic adenomatoid malformation of the lung", "Congenital cystic adenomatous malformation of the lung", "Congenital cystic disease of the lung"]} |
For the condition characterized by comorbidity of a specific set of impairments to executive functioning, see Dysexecutive syndrome.
In psychology and neuroscience, executive dysfunction, or executive function deficit, is a disruption to the efficacy of the executive functions, which is a group of cognitive processe... | Executive dysfunction | c2748208 | 1,115 | wikipedia | https://en.wikipedia.org/wiki/Executive_dysfunction | 2021-01-18T18:44:10 | {"umls": ["C2748208"], "wikidata": ["Q5419936"]} |
Fascial hernias in the form of nodules appear in the skin where the deep and superficial veins meet going through the fascia, most frequently occurring on the lower extremities, becoming prominent when the underlying muscles contract.[1]:610
## See also[edit]
* Skin lesion
## References[edit]
1. ^ James, Will... | Fascial hernia | c1695781 | 1,116 | wikipedia | https://en.wikipedia.org/wiki/Fascial_hernia | 2021-01-18T19:03:31 | {"umls": ["C1695781"], "wikidata": ["Q5436636"]} |
Grisel's syndrome
SpecialtyRheumatology
Grisel’s syndrome is a non-traumatic subluxation of the atlanto-axial joint caused by inflammation of the adjacent tissues. This is a rare disease that usually affects children. Progressive throat and neck pain and neck stiffness can be followed by neurologic symptom... | Grisel's syndrome | c0263885 | 1,117 | wikipedia | https://en.wikipedia.org/wiki/Grisel%27s_syndrome | 2021-01-18T18:28:01 | {"umls": ["C0263885"], "icd-9": ["723.5"], "wikidata": ["Q3508650"]} |
Traumatic alopecia
SpecialtyDermatology
Traumatic alopecia is a cutaneous condition that results from the forceful pulling out of the scalp hair.[1]
## See also[edit]
* Traction alopecia
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph ... | Traumatic alopecia | c0002182 | 1,118 | wikipedia | https://en.wikipedia.org/wiki/Traumatic_alopecia | 2021-01-18T18:49:56 | {"umls": ["C0002182"], "wikidata": ["Q7835819"]} |
A number sign (#) is used with this entry because X-linked dystonia-parkinsonism (XDP) is caused by an SVA (short interspersed nuclear element, variable number of tandem repeats, and Alu composite) retrotransposon insertion in an intron of the TATA-binding protein-associated factor-1 gene (TAF1; 313650) on chromo... | DYSTONIA 3, TORSION, X-LINKED | c1839130 | 1,119 | omim | https://www.omim.org/entry/314250 | 2019-09-22T16:17:17 | {"doid": ["0090057"], "mesh": ["C564048"], "omim": ["314250"], "orphanet": ["53351"], "synonyms": ["Alternative titles", "DYSTONIA-PARKINSONISM, X-LINKED", "TORSION DYSTONIA-PARKINSONISM, FILIPINO TYPE"], "genereviews": ["NBK1489"]} |
A rare histiocytic tumor characterized by a malignant proliferation of cells showing morphological and immunophenotypic features of mature tissue histiocytes. Most cases occur in extranodal sites, most commonly the intestinal tract, skin, and soft tissue. Patients may present with a solitary mass, lymphadenopathy, a ... | Histiocytic sarcoma | c0334663 | 1,120 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86896 | 2021-01-23T17:36:47 | {"mesh": ["D054747"], "umls": ["C0334663"], "icd-10": ["C96.8"]} |
A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.
## Epidemiology
Arrhythmogenic right ventricular card... | Arrhythmogenic right ventricular cardiomyopathy | c0349788 | 1,121 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247 | 2021-01-23T17:18:23 | {"gard": ["5847"], "mesh": ["D019571"], "umls": ["C0349788"], "icd-10": ["I42.8"], "synonyms": ["ARVC", "ARVD", "Arrhythmogenic right ventricular dysplasia"]} |
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD–UMOD) is an inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70. Patients with ADTKD-UMOD have high blood levels of uric... | Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations | c1859040 | 1,122 | gard | https://rarediseases.info.nih.gov/diseases/10679/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-umod-mutations | 2021-01-18T18:01:56 | {"mesh": ["C548033"], "omim": ["162000"], "umls": ["C1859040"], "orphanet": ["88950"], "synonyms": ["ADTKD-UMOD", "Autosomal dominant medullary cystic kidney disease type 2 (former)", "UMOD-related ADTKD", "Autosomal dominant medullary cystic kidney disease type 2", "MCKD2", "UMOD-related autosomal dominant tubulointer... |
The first HIV/AIDS case in Malaysia made its debut in 1986. Since then, HIV/AIDS has become one of the country's most serious health and development challenges.[1] As of 2019, the Ministry of Health estimated that there were 87,581 people living with HIV (PLHIV) in Malaysia. However, only 77,903 are aware of their st... | HIV/AIDS in Malaysia | None | 1,123 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Malaysia | 2021-01-18T18:42:18 | {"wikidata": ["Q5629859"]} |
Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
The characteristic signs and sympt... | Hennekam syndrome | c4012050 | 1,124 | medlineplus | https://medlineplus.gov/genetics/condition/hennekam-syndrome/ | 2021-01-27T08:25:43 | {"gard": ["3318"], "mesh": ["C537255"], "omim": ["235510", "616006"], "synonyms": []} |
A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').
## Epidemiology
Fewer than 30 cases have been reported to date.
## Clinical description
The characteristic facial appearance (''happy'' face) consists... | Geleophysic dysplasia | c3489726 | 1,125 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2623 | 2021-01-23T18:54:36 | {"gard": ["2449"], "mesh": ["C537677", "C535662"], "omim": ["231050", "614185", "617809"], "umls": ["C3489726"], "icd-10": ["Q87.1"], "synonyms": ["Geleophysic dwarfism"]} |
See also: Pseudomembranous colitis
Antibiotic-associated diarrhea
Antibiotic-associated diarrhea (AAD) results from an imbalance in the colonic microbiota caused by antibiotics. Microbiotal alteration changes carbohydrate metabolism with decreased short-chain fatty acid absorption and an osmotic diarrhea as a r... | Antibiotic-associated diarrhea | c0578159 | 1,126 | wikipedia | https://en.wikipedia.org/wiki/Antibiotic-associated_diarrhea | 2021-01-18T18:33:00 | {"umls": ["C0578159"], "wikidata": ["Q574891"]} |
## Summary
The purpose of this overview is to increase clinician awareness of the genetic basis of dilated cardiomyopathy (DCM) and the benefits of early diagnosis and management to individuals with genetic DCM.
The following are the goals of this overview.
### Goal 1.
Define DCM.
### Goal 2.
Identify the c... | Dilated Cardiomyopathy Overview | None | 1,127 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1309/ | 2021-01-18T21:30:11 | {"synonyms": []} |
Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.
## Epidemiology
Prevalence is unknown. It most commonly affects postmenopausal women, although it has also been reported in men and premenop... | Frontal fibrosing alopecia | c1274700 | 1,128 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254492 | 2021-01-23T18:26:05 | {"gard": ["10886"], "umls": ["C1274700"], "icd-10": ["L66.1"], "synonyms": ["FFA"]} |
Median arcuate ligament syndrome
Other namesCeliac artery compression syndrome
Celiac axis syndrome
Celiac trunk compression syndrome
Dunbar syndrome
Median arcuate ligament syndrome results from compression of the celiac artery by the median arcuate ligament. The median arcuate ligament is a fibrous arch f... | Median arcuate ligament syndrome | c1861783 | 1,129 | wikipedia | https://en.wikipedia.org/wiki/Median_arcuate_ligament_syndrome | 2021-01-18T18:41:30 | {"gard": ["12308"], "mesh": ["D000074742"], "umls": ["C1861783"], "orphanet": ["293208"], "wikidata": ["Q2456424"]} |
A number sign (#) is used with this entry because familial infantile convulsions with paroxysmal choreoathetosis (ICCA) is caused by heterozygous mutation in the PRRT2 gene (614386) on chromosome 16p11.
Description
Benign familial infantile convulsions (BFIC; see 601764) is an autosomal dominant disorder charac... | CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS | c1865926 | 1,130 | omim | https://www.omim.org/entry/602066 | 2019-09-22T16:14:03 | {"mesh": ["C535522"], "omim": ["602066"], "orphanet": ["31709"], "synonyms": ["Alternative titles", "INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL", "ICCA SYNDROME", "PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS"], "genereviews": ["NBK475803"]} |
Abortion in Nevada is legal. 62% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases. Legislation by 2007 required informed consent. Attempts were successfully made to pass abortion legislation in May 2019, being pushed through a largely Democratic controlled state l... | Abortion in Nevada | None | 1,131 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Nevada | 2021-01-18T18:54:48 | {"wikidata": ["Q64876938"]} |
An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correctio... | Isolated arrhinia | c0265740 | 1,132 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1134 | 2021-01-23T17:27:42 | {"gard": ["364"], "mesh": ["C537438"], "umls": ["C0265740"], "icd-10": ["Q30.1"], "synonyms": ["Isolated nose agenesis"]} |
For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see 151400.
Clinical Features
Lynch et al. (2002) described a family in which the father and all 4 of his children had CLL. All of the children were male, and 2 were identical twins. CLL was diagnosed at th... | LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3 | c0855095 | 1,133 | omim | https://www.omim.org/entry/612557 | 2019-09-22T16:01:14 | {"doid": ["1040"], "omim": ["612557"], "orphanet": ["67038"], "synonyms": ["Alternative titles", "CLLS3"]} |
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
## Epidemiology
The prevalence is unknown but to date, less than 50 cases have been described in... | Cleft lip/palate-ectodermal dysplasia syndrome | c2931488 | 1,134 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3253 | 2021-01-23T17:33:12 | {"gard": ["375"], "mesh": ["C536726"], "omim": ["225060"], "umls": ["C2931488"], "synonyms": ["CLPED1", "Cleft lip/palate-syndactyly-pili torti syndrome", "Syndactyly-ectodermal dysplasia-cleft/lip palate", "Zlotogora-Zilberman-Tenenbaum syndrome"]} |
A number sign (#) is used with this entry because of evidence that anauxetic dysplasia-2 (ANXD2) is caused by homozygous or compound heterozygous mutation in the POP1 gene (602486) on chromosome 8q22.
Description
Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of pren... | ANAUXETIC DYSPLASIA 2 | c1846796 | 1,135 | omim | https://www.omim.org/entry/617396 | 2019-09-22T15:45:54 | {"mesh": ["C538256"], "omim": ["617396"], "orphanet": ["93347"]} |
Intravascular papillary endothelial hyperplasia
Other namesMasson's hemangio-endotheliome vegetant intravasculaire,[1] Masson's lesion,[1] Masson's pseudoangiosarcoma,[1] Masson's tumor,[1] and Papillary endothelial hyperplasia[1]
SpecialtyOncology, rheumatology
Intravascular papillary endothelial hyperplasi... | Intravascular papillary endothelial hyperplasia | c0343083 | 1,136 | wikipedia | https://en.wikipedia.org/wiki/Intravascular_papillary_endothelial_hyperplasia | 2021-01-18T18:41:34 | {"gard": ["10733"], "umls": ["C0343083"], "icd-10": ["D21"], "wikidata": ["Q6058576"]} |
Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. The... | Neurocutaneous melanosis | c0544862 | 1,137 | gard | https://rarediseases.info.nih.gov/diseases/7186/neurocutaneous-melanosis | 2021-01-18T17:58:45 | {"mesh": ["C537387"], "omim": ["249400"], "umls": ["C0544862"], "orphanet": ["2481"], "synonyms": ["Melanosis, neurocutaneous", "Neurocutaneous melanosis syndrome"]} |
RAB18 deficiency causes two conditions with similar signs and symptoms that primarily affect the eyes, brain, and reproductive system. These two conditions, called Warburg micro syndrome and Martsolf syndrome, were once thought to be distinct disorders but are now considered to be part of the same disease spectrum be... | RAB18 deficiency | c0796037 | 1,138 | medlineplus | https://medlineplus.gov/genetics/condition/rab18-deficiency/ | 2021-01-27T08:24:45 | {"gard": ["3406", "5534"], "mesh": ["C536028"], "omim": ["212720", "600118", "614225", "614222", "615663"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that isolated congenital digital clubbing can be caused by homozygous mutation in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD; 601688) on chromosome 4q34.
Description
Digital clubbing is characterized by enlargement of the nail plate and termina... | DIGITAL CLUBBING, ISOLATED CONGENITAL | c0345408 | 1,139 | omim | https://www.omim.org/entry/119900 | 2019-09-22T16:43:08 | {"mesh": ["D010004"], "omim": ["119900"], "orphanet": ["217059"], "synonyms": ["Alternative titles", "CLUBBING OF DIGITS", "ACROPACHY, HEREDITARY"]} |
Factor VII deficiency is a rare bleeding disorder. The age of onset and severity varies from person to person. While severe cases may become apparent in infancy, very mild cases may never cause any bleeding problems. Signs and symptoms may include nosebleeds; easy bruising; bleeding gums; excessive or prolonged bleed... | Factor VII deficiency | c0015503 | 1,140 | gard | https://rarediseases.info.nih.gov/diseases/2238/factor-vii-deficiency | 2021-01-18T18:00:36 | {"mesh": ["D005168"], "omim": ["227500"], "umls": ["C0015503"], "orphanet": ["327"], "synonyms": ["Factor 7 deficiency", "F7 deficiency", "Hypoproconvertinemia", "Congenital proconvertin deficiency"]} |
Cerebrospinal fluid (CSF) otorrhea is the leakage of cerebrospinal fluid (CSF) though the ear. It is a rare but very serious condition that requires rapid intervention. Symptoms include leak of clear fluid through the ear, inflammation of the membranes that cover the brain (meningitis), hearing loss, and seizures. Th... | Cerebrospinal fluid leak | c0023182 | 1,141 | gard | https://rarediseases.info.nih.gov/diseases/10166/cerebrospinal-fluid-leak | 2021-01-18T18:01:32 | {"mesh": ["D065634"], "synonyms": ["CSF leak", "CSF rhinorrhea", "CSF otorrhea", "Spinal CSF leak"]} |
A number sign (#) is used with this entry because of evidence that distal arthrogryposis type 1A (DA1A) and type 2B4 (DA2B4) are caused by heterozygous mutation in the TPM2 gene (190990) on chromosome 9p13.
Heterozygous mutation in the TPM2 gene can also cause nemaline myopathy-4 (NEM4; 609285), which shows similar ... | ARTHROGRYPOSIS, DISTAL, TYPE 1A | c1852085 | 1,142 | omim | https://www.omim.org/entry/108120 | 2019-09-22T16:44:46 | {"doid": ["0050646"], "mesh": ["C565097"], "omim": ["108120"], "orphanet": ["1146"], "synonyms": ["Alternative titles", "ARTHROGRYPOSIS, DISTAL, TYPE 1", "ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I"]} |
Aldolase A deficiency
Other namesALDOA deficiency, Red cell aldolase deficiency,[1] or Glycogen storage disease type 12 (GSD XII)[2]
Aldolase A deficiency has an autosomal recessive pattern of inheritance
SpecialtyEndocrinology
Aldolase A deficiency, is an autosomal recessive[3] metabolic disorder resultin... | Aldolase A deficiency | c0272066 | 1,143 | wikipedia | https://en.wikipedia.org/wiki/Aldolase_A_deficiency | 2021-01-18T18:36:35 | {"gard": ["600"], "mesh": ["C562718"], "umls": ["C0272066"], "icd-10": ["E74.1"], "orphanet": ["57"], "wikidata": ["Q4713937"]} |
Nasopharyngeal carcinoma
Other namesNasopharyngeal cancer, nasopharynx cancer, NPC
Micrograph showing a nasopharyngeal carcinoma positive for Epstein-Barr virus-encoded small RNAs (EBER).
SpecialtyOncology
Nasopharyngeal carcinoma (NPC), or nasopharynx cancer, is the most common cancer originating in t... | Nasopharyngeal carcinoma | c2750548 | 1,144 | wikipedia | https://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma | 2021-01-18T18:46:22 | {"gard": ["7163"], "mesh": ["D000077274"], "umls": ["C2750548"], "orphanet": ["150"], "wikidata": ["Q1693598"]} |
Medical condition in which gallstones cause acute pain
Biliary colic
Other namesGallstone attack, gallbladder attack
Biliary colic is often related to a stone in the gallbladder
SpecialtyGastroenterology
Biliary colic, also known as symptomatic cholelithiasis, a gallbladder attack or gallstone attack,... | Biliary colic | c0151824 | 1,145 | wikipedia | https://en.wikipedia.org/wiki/Biliary_colic | 2021-01-18T19:03:28 | {"icd-9": ["574.20"], "icd-10": ["K80.5"], "wikidata": ["Q2727106"]} |
Plexopathy is a disorder affecting a network of nerves, blood vessels, or lymph vessels.[1] The region of nerves it affects are at the brachial or lumbosacral plexus. Symptoms include pain, loss of motor control, and sensory deficits.[2]
## Contents
* 1 Types
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 ... | Plexopathy | c1335437 | 1,146 | wikipedia | https://en.wikipedia.org/wiki/Plexopathy | 2021-01-18T18:53:05 | {"umls": ["C1335437"], "wikidata": ["Q7204901"]} |
A number sign (#) is used with this entry because of evidence that some cases of preaxial polydactyly type IV are caused by heterozygous mutation in the GLI3 gene (165240) on chromosome 7p14.
Description
Although both preaxial polydactyly and syndactyly are cardinal features of this malformation, it is classifi... | POLYDACTYLY, PREAXIAL IV | c0265553 | 1,147 | omim | https://www.omim.org/entry/174700 | 2019-09-22T16:36:02 | {"doid": ["1148"], "mesh": ["D013576"], "omim": ["174700"], "orphanet": ["93338"], "synonyms": ["Alternative titles", "POLYSYNDACTYLY, UNCOMPLICATED"]} |
Mucinous cystadenocarcinoma of the lung
Other namesMucinous multilocular cyst carcinoma, Pseudomyxomatous pulmonary adenocarcinoma, Mucinous cystic tumor of low malignant potential[1]
SpecialtyOncology
Mucinous cystadenocarcinoma of the lung (MCACL) is a very rare malignant mucus-producing neoplasm arising f... | Mucinous cystadenocarcinoma of the lung | None | 1,148 | wikipedia | https://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma_of_the_lung | 2021-01-18T18:57:20 | {"umls": ["C1711166"], "wikidata": ["Q17155516"]} |
A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include trian... | Progeroid features-hepatocellular carcinoma predisposition syndrome | c4015461 | 1,149 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435953 | 2021-01-23T17:06:56 | {"omim": ["616200"], "synonyms": ["Ruijs-Aalfs syndrome"]} |
MBD25–related intellectual disability, or MBD25 haploinsufficiency, is a neurological and developmental disorder characterized by developmental delay, intellectual disability, speech problems, seizures, sleep troubles, and abnormal behaviors. Most children lack speech entirely or may only be able to use single words,... | MBD25–related intellectual disability | c1969562 | 1,150 | gard | https://rarediseases.info.nih.gov/diseases/12852/mbd25-related-intellectual-disability | 2021-01-18T17:59:12 | {"mesh": ["C566947"], "omim": ["156200"], "synonyms": ["Autosomal dominant intellectual disability 1", "MBD5 Haploinsufficiency"]} |
Sturge–Weber syndrome
Other namesSturge–Weber–Krabbe disease
CT scan of Sturge-Weber syndrome
SpecialtyMedical genetics
Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associate... | Sturge–Weber syndrome | c0038505 | 1,151 | wikipedia | https://en.wikipedia.org/wiki/Sturge%E2%80%93Weber_syndrome | 2021-01-18T18:52:04 | {"gard": ["7706"], "mesh": ["D013341"], "umls": ["C0038505"], "icd-9": ["759.6"], "icd-10": ["Q85.8"], "orphanet": ["3205"], "wikidata": ["Q1886238"]} |
A number sign (#) is used with this entry because idiopathic basal ganglia calcification-4 (IBGC4) is caused by heterozygous mutation in the PDGFRB gene (173410) on chromosome 5q32.
Description
Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calci... | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 | c0393590 | 1,152 | omim | https://www.omim.org/entry/615007 | 2019-09-22T15:53:29 | {"doid": ["0060230"], "omim": ["615007"], "orphanet": ["1980"], "genereviews": ["NBK1421"]} |
Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face ... | Lethal polymalformative syndrome, Boissel type | c2752001 | 1,153 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=210144 | 2021-01-23T17:58:03 | {"mesh": ["C567856"], "omim": ["612938"], "umls": ["C2752001"], "icd-10": ["Q87.8"]} |
Lateral pontine syndrome
Pons
SpecialtyNeurology
A lateral pontine syndrome is a lesion which is similar to the lateral medullary syndrome, but because it occurs in the pons, it also involves the cranial nerve nuclei of the pons.
## Contents
* 1 Symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5... | Lateral pontine syndrome | None | 1,154 | wikipedia | https://en.wikipedia.org/wiki/Lateral_pontine_syndrome | 2021-01-18T18:38:21 | {"wikidata": ["Q17125280"]} |
For the equine form of the disease, see Pituitary pars intermedia dysfunction.
Cushing's disease
Other namesCushing disease, tertiary or secondary hypercortisolism, tertiary or secondary hypercorticism, Itsenko-Cushing disease[1][2]
SpecialtyEndocrinology
Cushing's disease is one cause of Cushing's synd... | Cushing's disease | c0010481 | 1,155 | wikipedia | https://en.wikipedia.org/wiki/Cushing%27s_disease | 2021-01-18T18:40:47 | {"mesh": ["D003480"], "icd-10": ["E24.0"], "orphanet": ["96253"], "wikidata": ["Q1947304"]} |
Langer–Giedion syndrome
Other namesDeletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type II (TRPS2), Langer-Giedion chromosome region (LGCR)[1][2]
A person showing the typical features of Langer-Giedion syndrome
SpecialtyMedical genetics
Langer–Giedion syndrome (LGS) is a very uncommon ... | Langer–Giedion syndrome | c0023003 | 1,156 | wikipedia | https://en.wikipedia.org/wiki/Langer%E2%80%93Giedion_syndrome | 2021-01-18T18:30:25 | {"gard": ["7801"], "mesh": ["D015826"], "umls": ["C2931237"], "icd-9": ["755.8"], "icd-10": ["Q87.8"], "orphanet": ["502"], "wikidata": ["Q3508795"]} |
"CCVI" redirects here. For other uses, see CCVI (disambiguation).
Chronic cerebrospinal venous insufficiency
Veins of the neck. V.jugularis interna is proposed to be stenosed or have a malformed valve in CCSVI cases.
SpecialtyCardiology
Chronic cerebrospinal venous insufficiency (CCSVI or CCVI) is a ter... | Chronic cerebrospinal venous insufficiency controversy | None | 1,157 | wikipedia | https://en.wikipedia.org/wiki/Chronic_cerebrospinal_venous_insufficiency_controversy | 2021-01-18T18:56:59 | {"umls": ["CL529180"], "icd-10": ["I87.8"], "wikidata": ["Q1088054"]} |
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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 c... | HIV/AIDS in South African townships | None | 1,158 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_South_African_townships | 2021-01-18T18:34:37 | {"wikidata": ["Q5629880"]} |
Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.
## Epidemiology
The exact prevalence of PG is unknown. The incidence has been estimated to range between 1 and 3.3 in 330,000. The incide... | Pyoderma gangrenosum | c0085652 | 1,159 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48104 | 2021-01-23T16:53:03 | {"gard": ["7510"], "mesh": ["D017511"], "umls": ["C0085652"], "icd-10": ["L88"]} |
Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers ... | Elastofibroma dorsi | c0334460 | 1,160 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228243 | 2021-01-23T18:51:26 | {} |
Yuan-Harel-Lupski (YUHAL) syndrome is a rare neurological condition that has a combination of features of two other disorders, Potocki-Lupski syndrome and type 1A Charcot-Marie-Tooth disease.
The first signs and symptoms of YUHAL syndrome begin in infancy. Infants with YUHAL syndrome usually have weak muscle tone (h... | Yuan-Harel-Lupski syndrome | c4225255 | 1,161 | medlineplus | https://medlineplus.gov/genetics/condition/yuan-harel-lupski-syndrome/ | 2021-01-27T08:24:33 | {"omim": ["616652"], "synonyms": []} |
Not to be confused with sarcoma.
Sarcoidosis
Other namesSarcoïdosis, sarcoid, Besnier-Boeck-Schaumann disease[1]
Chest X-ray showing the typical nodularity of sarcoidosis, predominantly in the bases of the lungs.
Pronunciation
* sar-koy-DO-sis
SpecialtyRheumatology
SymptomsDepends on the organ inv... | Sarcoidosis | c0036202 | 1,162 | wikipedia | https://en.wikipedia.org/wiki/Sarcoidosis | 2021-01-18T18:43:36 | {"gard": ["7607"], "mesh": ["D012507"], "umls": ["C0036202"], "orphanet": ["797"], "wikidata": ["Q193894"]} |
Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depend... | Neurolymphomatosis | c0024793 | 1,163 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206586 | 2021-01-23T18:02:27 | {"mesh": ["D008380"]} |
Neonatal hepatitis
SpecialtyNeonatology
Neonatal hepatitis refers to many forms of liver dysfunction that affects fetuses and neonates.[1] It is most often caused by viruses or metabolic diseases, and many cases are of an unknown cause.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
... | Neonatal hepatitis | c0027613 | 1,164 | wikipedia | https://en.wikipedia.org/wiki/Neonatal_hepatitis | 2021-01-18T19:10:31 | {"icd-9": ["774.4"], "icd-10": ["P59.2"], "wikidata": ["Q6993479"]} |
A number sign (#) is used with this entry because porphyria cutanea tarda type II, or familial PCT, is caused by heterozygous mutation in the gene encoding uroporphyrinogen decarboxylase (UROD; 613521). Hepatoerythropoietic porphyria (HEP) is caused by homozygous or compound heterozygous mutation in the UROD gene... | PORPHYRIA CUTANEA TARDA | c0162566 | 1,165 | omim | https://www.omim.org/entry/176100 | 2019-09-22T16:35:55 | {"doid": ["3132"], "mesh": ["D017119"], "omim": ["176100"], "icd-10": ["E80.1"], "orphanet": ["443062", "101330", "95159"], "synonyms": ["UROD DEFICIENCY", "PORPHYRIA CUTANEA TARDA, TYPE II", "PORPHYRIA, HEPATOCUTANEOUS TYPE", "Alternative titles", "UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY", "PCT", "Porphyria cutanea ... |
Dermatological condition
Atrophodermia vermiculata
Other namesAcne vermoulante, Acne vermoulanti, Atrophoderma reticulata symmetrica faciei, Atrophoderma reticulatum, Atrophoderma vermiculata, Atrophoderma vermiculatum, Atrophodermia reticulata symmetrica faciei, Atrophodermia ulerythematosa, Atrophodermie vermicu... | Atrophodermia vermiculata | c0263429 | 1,166 | wikipedia | https://en.wikipedia.org/wiki/Atrophodermia_vermiculata | 2021-01-18T18:51:00 | {"gard": ["9744"], "mesh": ["C537412"], "umls": ["C0263429"], "icd-10": ["L66.4"], "orphanet": ["79100"], "wikidata": ["Q16835166"]} |
## Summary
### Clinical characteristics.
Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing;... | Autosomal Dominant Epilepsy with Auditory Features | None | 1,167 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1537/ | 2021-01-18T21:41:39 | {"synonyms": ["ADEAF", "Autosomal Dominant Lateral Temporal Epilepsy (ADLTE)"]} |
A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.
## Epidemiology
Whilst several hundred cases have been reported worldwide, the exact prevalence is unknown. Most of the cases described were from the Israeli Bedouin... | Hereditary sensory and autonomic neuropathy type 4 | c0020074 | 1,168 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=642 | 2021-01-23T17:49:03 | {"gard": ["3006"], "mesh": ["D009477"], "omim": ["256800"], "umls": ["C0020074"], "icd-10": ["G60.8"], "synonyms": ["CIPA", "Congenital insensitivity to pain with anhidrosis", "HSAN4", "Hereditary sensory and autonomic neuropathy type IV"]} |
A number sign (#) is used with this entry because 4 known genetic mechanisms can cause Angelman syndrome (AS). Approximately 70% of AS cases result from de novo maternal deletions involving chromosome 15q11.2-q13; approximately 2% result from paternal uniparental disomy of 15q11.2-q13; and 2 to 3% result from imprint... | ANGELMAN SYNDROME | c0162635 | 1,169 | omim | https://www.omim.org/entry/105830 | 2019-09-22T16:45:10 | {"doid": ["1932"], "mesh": ["D017204"], "omim": ["105830"], "icd-10": ["Q93.51"], "orphanet": ["72"], "synonyms": ["Alternative titles", "HAPPY PUPPET SYNDROME, FORMERLY"], "genereviews": ["NBK1144"]} |
A number sign (#) is used with this entry because vitelliform macular dystrophy-2 (VMD2), also known as Best disease, is caused by heterozygous mutation in the bestrophin gene (BEST1; 607854) on chromosome 11q12.
Description
Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characteri... | MACULAR DYSTROPHY, VITELLIFORM, 2 | c0339510 | 1,170 | omim | https://www.omim.org/entry/153700 | 2019-09-22T16:38:44 | {"doid": ["0050661"], "mesh": ["D057826"], "omim": ["153700"], "orphanet": ["1243"], "synonyms": ["Alternative titles", "VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET", "VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET", "BEST MACULAR DYSTROPHY", "MACULAR DEGENERATION, POLYMORPHIC VITELLINE", "BEST VITELLIFORM MACULAR DYSTRO... |
Cyclosporiasis
Other namescyclosporosis
Cyclospora cayetanensis
SpecialtyInfectious disease
Cyclosporiasis is a disease caused by infection with Cyclospora cayetanensis, a pathogenic protozoan transmitted by feces or feces-contaminated food and water.[1] Outbreaks have been reported due to contaminated fru... | Cyclosporiasis | c0343398 | 1,171 | wikipedia | https://en.wikipedia.org/wiki/Cyclosporiasis | 2021-01-18T18:47:38 | {"gard": ["9528"], "mesh": ["D021866"], "umls": ["C0343398"], "orphanet": ["210"], "wikidata": ["Q3008595"]} |
Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and ... | Dihydropteridine reductase deficiency | c0268465 | 1,172 | gard | https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency | 2021-01-18T18:00:51 | {"mesh": ["D010661"], "omim": ["261630"], "orphanet": ["226"], "synonyms": ["DHPR deficiency", "Hyperphenylalaninemia, BH-4-deficient, C", "Hyperphenylalaninemia due to dihydropteridine reductase deficiency", "Phenylketonuria type 2", "Quinoid dihydropteridine reductase deficiency", "QDPR deficiency", "PKU type 2"]} |
A number sign (#) is used with this entry because spinocerebellar ataxia-7 (SCA7) is caused by a heterozygous expanded trinucleotide repeat in the gene encoding ataxin-7 (ATXN7; 607640) on chromosome 3p14.
Description
Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized ... | SPINOCEREBELLAR ATAXIA 7 | c0752125 | 1,173 | omim | https://www.omim.org/entry/164500 | 2019-09-22T16:37:10 | {"doid": ["0050958"], "mesh": ["D020754"], "omim": ["164500"], "orphanet": ["94147"], "synonyms": ["Alternative titles", "OLIVOPONTOCEREBELLAR ATROPHY III", "OPCA III", "OPCA WITH RETINAL DEGENERATION", "OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA", "AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE II", "ADCA... |
A popliteal artery aneurysm is a bulging (aneurysm) of the popliteal artery.[1] A PAA is diagnosed when a focal dilation greater than 50% of the normal vessel diameter is found (the normal diameter of a popliteal artery is 0.7-1.1 cm). PAAs are the most common aneurysm of peripheral vasculature, accounting for 85% of... | Popliteal artery aneurysm | c0264964 | 1,174 | wikipedia | https://en.wikipedia.org/wiki/Popliteal_artery_aneurysm | 2021-01-18T19:01:22 | {"umls": ["C0264964"], "icd-10": ["I72.4"], "wikidata": ["Q18343639"]} |
Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate... | Lujo hemorrhagic fever | c4274433 | 1,175 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319213 | 2021-01-23T17:30:57 | {"icd-10": ["A96.8"], "synonyms": ["Zambian hemorrhagic fever"]} |
CYLD cutaneous syndrome causes the growth of several types of non-cancerous (benign) skin tumors. Tumors mainly grow on the scalp and face, but can also grow on the torso, genitals and armpits. Tumors usually first appear in the teens or early adulthood. The types of tumors that occur in CYLD cutaneous syndrome may i... | CYLD cutaneous syndrome | c1857941 | 1,176 | gard | https://rarediseases.info.nih.gov/diseases/10179/cyld-cutaneous-syndrome | 2021-01-18T18:01:00 | {"mesh": ["C536611"], "omim": ["605041"], "orphanet": ["79493"], "synonyms": ["BRSS", "Spiegler-Brooke syndrome", "SBS", "Ancell-Spiegler cylindromas", "Brooke-Spiegler syndrome", "Familial cylindromatosis", "Multiple familial trichoepitheliomas"]} |
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: "Fibrillary astrocytoma" – news · newspapers · books · scholar · JSTOR (April 2010) (Learn how and when to remove this t... | Fibrillary astrocytoma | c0334582 | 1,177 | wikipedia | https://en.wikipedia.org/wiki/Fibrillary_astrocytoma | 2021-01-18T19:08:07 | {"mesh": ["D001254"], "umls": ["C0334582"], "orphanet": ["251601"], "wikidata": ["Q953330"]} |
A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other ... | Combined immunodeficiency due to GINS1 deficiency | c4693356 | 1,178 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=505227 | 2021-01-23T17:44:03 | {"omim": ["617827"], "synonyms": ["CID due to GINS1 deficiency", "Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia", "Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia"]} |
A number sign (#) is used with this entry because of evidence that hypochromic microcytic anemia with iron overload-2 (AHMIO2) is caused by heterozygous mutation in the STEAP3 gene (609671) on chromosome 2q14. One such family has been reported.
For a discussion of genetic heterogeneity of hypochromic microcytic anem... | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 | c3808920 | 1,179 | omim | https://www.omim.org/entry/615234 | 2019-09-22T15:52:46 | {"doid": ["0050642"], "omim": ["615234"], "orphanet": ["300298"], "synonyms": ["Severe congenital hypochromic sideroblastic anemia"]} |
Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the develop... | Carpenter syndrome | c1275078 | 1,180 | gard | https://rarediseases.info.nih.gov/diseases/6003/carpenter-syndrome | 2021-01-18T18:01:36 | {"mesh": ["C563187"], "omim": ["201000"], "orphanet": ["65759"], "synonyms": ["Acrocephalopolysyndactyly type 2", "ACPS 2", "Acrocephalosyndactyly, type II", "Carpenter syndrome 1", "CRPT1"]} |
Kisch and Nasuhoglu (1953) described a mediosternal, longitudinally directed streak of hypopigmentation in 5 blacks. I have observed this, but no systematic family studies have been done. See Futcher line (137000) and raindrop depigmentation (179500) for other pigment peculiarities in blacks.
Inheritance \- Autos... | MEDIOSTERNAL DEPIGMENTATION LINE | c1835085 | 1,181 | omim | https://www.omim.org/entry/155200 | 2019-09-22T16:38:30 | {"omim": ["155200"]} |
A mitochondrially inherited degeneration of retinal cells in human
Leber's hereditary optic neuropathy
Other namesLeber hereditary optic atrophy
Leber’s hereditary optic neuropathy has a mitochondrial inheritance pattern.
SpecialtyOphthalmology
Frequency1:30,000 to 1:50,000
Leber's hereditary optic neur... | Leber's hereditary optic neuropathy | c0917796 | 1,182 | wikipedia | https://en.wikipedia.org/wiki/Leber%27s_hereditary_optic_neuropathy | 2021-01-18T18:45:59 | {"gard": ["6870"], "mesh": ["D029242"], "umls": ["C0917796"], "icd-9": ["377.16"], "orphanet": ["104"], "wikidata": ["Q1262161"]} |
Pregnancy-associated malaria (PAM) or placental malaria is a presentation of the common illness that is particularly life-threatening to both mother and developing fetus.[1] PAM is caused primarily by infection with Plasmodium falciparum,[1][2] the most dangerous of the four species of malaria-causing parasites t... | Pregnancy-associated malaria | c0156799 | 1,183 | wikipedia | https://en.wikipedia.org/wiki/Pregnancy-associated_malaria | 2021-01-18T18:35:15 | {"umls": ["C0156799", "C0404795"], "icd-9": ["647.4"], "icd-10": ["O98.6"], "wikidata": ["Q7239883"]} |
Spinocerebellar ataxia type 6
Other namesDiseasesDB = 12339
This condition is inherited in an autosomal dominant manner
SpecialtyNeurology
Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor ... | Spinocerebellar ataxia type 6 | c0752124 | 1,184 | wikipedia | https://en.wikipedia.org/wiki/Spinocerebellar_ataxia_type_6 | 2021-01-18T19:01:40 | {"gard": ["10351"], "mesh": ["D020754"], "umls": ["C0752124"], "icd-9": ["334.9"], "icd-10": ["G11.2"], "orphanet": ["98758"], "wikidata": ["Q2868788"]} |
High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histol... | High-grade neuroendocrine carcinoma of the corpus uteri | None | 1,185 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213731 | 2021-01-23T17:40:42 | {"icd-10": ["C54.0", "C54.1", "C54.2", "C54.3", "C54.8"], "synonyms": ["High-grade neuroendocrine carcinoma of the uterine corpus", "Poorly differentiated neuroendocrine carcinoma of the corpus uteri", "Poorly differentiated neuroendocrine carcinoma of the endometrium"]} |
Sulfatidosis
SpecialtyEndocrinology
Sulfatidosis is a form of lysosomal storage disease resulting in a proliferation of sulfatide.
## Contents
* 1 Causes
* 2 Diagnosis
* 2.1 Types
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Causes[edit]
It is caused by a genetic insuffic... | Sulfatidosis | c1706192 | 1,186 | wikipedia | https://en.wikipedia.org/wiki/Sulfatidosis | 2021-01-18T18:40:32 | {"mesh": ["D052516"], "wikidata": ["Q7636192"]} |
Infectious bacterial disease
Scanning electron microphotograph depicting a mass of Yersinia pestis bacteria (the cause of bubonic plague) in the foregutte of the flea vector
Sylvatic plague is an infectious bacterial disease caused by the plague bacterium (Yersinia pestis) that primarily affects rodents, such a... | Sylvatic plague | None | 1,187 | wikipedia | https://en.wikipedia.org/wiki/Sylvatic_plague | 2021-01-18T18:51:04 | {"wikidata": ["Q16992883"]} |
A disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
## Epidemiology
Systemic primary carnitine deficiency (SPCD) exact pre... | Systemic primary carnitine deficiency | c0342788 | 1,188 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158 | 2021-01-23T18:58:16 | {"gard": ["5104"], "mesh": ["C536778"], "omim": ["212140"], "umls": ["C0342788"], "icd-10": ["E71.3"], "synonyms": ["CDSP", "CUD", "Carnitine transporter defect", "Carnitine uptake deficiency", "Deficiency of plasma-membrane carnitine transporter", "SPCD"]} |
Human jaw cyst
Glandular odontogenic cyst
Other namesSialo-Odontogenic cyst
Relative incidence of odontogenic cysts.[1] Glandular odontogenic cyst is labeled at bottom.
SymptomsJaw expansion, swelling, impairment to the tooth, root and cortical plate [2][3]
CausesCellular mutation, cyst maturation at glandul... | Glandular odontogenic cyst | c0399558 | 1,189 | wikipedia | https://en.wikipedia.org/wiki/Glandular_odontogenic_cyst | 2021-01-18T18:49:22 | {"wikidata": ["Q5566618"]} |
Patulous Eustachian tube
Other namesPatent Eustachian tube
SpecialtyENT surgery
Patulous Eustachian tube (PET) is the name of a physical disorder where the Eustachian tube, which is normally closed, instead stays intermittently open. When this occurs, the person experiences autophony, the hearing of self... | Patulous Eustachian tube | c0155434 | 1,190 | wikipedia | https://en.wikipedia.org/wiki/Patulous_Eustachian_tube | 2021-01-18T18:41:02 | {"gard": ["10812"], "umls": ["C0155434"], "wikidata": ["Q1361850"]} |
A number sign (#) is used with this entry because heterozygous mutation in the PALB2 gene (610355) on chromosome 16p12 confers susceptibility to pancreatic cancer.
For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350.
Molecular Genetics
To explor... | PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | c2931038 | 1,191 | omim | https://www.omim.org/entry/613348 | 2019-09-22T15:58:53 | {"mesh": ["C535837"], "omim": ["613348"], "orphanet": ["1333"], "synonyms": ["Alternative titles", "PNCA3"]} |
A number sign (#) is used with this entry because of evidence that bradyopsia is caused by mutations in RGS9 (604067) or its anchor protein R9AP (607814).
Clinical Features
Kooijman et al. (1991) described 3 unrelated Dutch patients with prolonged electroretinal response suppression (PERRS) and stationary subnormal... | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION | c1842073 | 1,192 | omim | https://www.omim.org/entry/608415 | 2019-09-22T16:07:54 | {"doid": ["0050335"], "mesh": ["C564243"], "omim": ["608415"], "orphanet": ["75374"], "synonyms": ["PERRS", "Alternative titles", "BRADYOPSIA", "Prolonged electroretinal response suppression"]} |
## Summary
### Clinical characteristics.
Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episod... | Hemophilia B | c0008533 | 1,193 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1495/ | 2021-01-18T21:22:03 | {"mesh": ["D002836"], "synonyms": ["Christmas Disease", "Factor IX Deficiency"]} |
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: "Pinta" disease – news · newspapers · books · scholar · JSTOR (May 2018) (Learn how and when to remove this template mes... | Pinta (disease) | c0031946 | 1,194 | wikipedia | https://en.wikipedia.org/wiki/Pinta_(disease) | 2021-01-18T19:01:37 | {"gard": ["7397"], "mesh": ["D010874"], "umls": ["C0153242", "C0153243", "C0153244", "C0031946", "C0153241"], "wikidata": ["Q922029"]} |
Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
## Epidemiology
The exact pre... | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | c0268117 | 1,195 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79233 | 2021-01-23T18:34:33 | {"mesh": ["C562583"], "omim": ["300323"], "umls": ["C0268117"], "icd-10": ["E79.8"], "synonyms": ["HPRT deficiency, grade I", "HPRT partial deficiency", "HPRT-related gout", "HPRT-related hyperuricemia", "HPRT1 partial deficiency", "Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency", "Hypoxanthine gua... |
Periorbital dermatitis
Other namesPeriocular dermatitis[1]
Periorbital dermatitis
SpecialtyDermatology
Periorbital dermatitis is a skin condition, a variant of perioral dermatitis, occurring on the lower eyelids and skin adjacent to the upper and lower eyelids.[2]
## See also[edit]
* Granulomatous peri... | Periorbital dermatitis | None | 1,196 | wikipedia | https://en.wikipedia.org/wiki/Periorbital_dermatitis | 2021-01-18T18:58:23 | {"wikidata": ["Q7168677"]} |
A number sign (#) is used with this entry because transient neonatal cyanosis is caused by heterozygous mutation in the HBG2 gene (142250) on chromosome 11p15.5.
Description
Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caus... | CYANOSIS, TRANSIENT NEONATAL | c3151421 | 1,197 | omim | https://www.omim.org/entry/613977 | 2019-09-22T15:56:58 | {"omim": ["613977"], "orphanet": ["280615"], "synonyms": ["Transient neonatal cyanosis and anemia due to Toms River Hemoglobin"]} |
Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fi... | Congenital hepatic fibrosis | c0009714 | 1,198 | gard | https://rarediseases.info.nih.gov/diseases/6168/congenital-hepatic-fibrosis | 2021-01-18T18:01:08 | {"mesh": ["C562378"], "synonyms": []} |
For a general phenotypic description and a discussion of genetic heterogeneity of kala-azar, which is also known as visceral leishmaniasis, see 608207.
Mapping
A major susceptibility gene for kala-azar has been identified on chromosome 22q12 (KAZA1; 608207) in the Aringa ethnic group in eastern Sudan. Miller et al.... | KALA-AZAR, SUSCEPTIBILITY TO, 3 | c1969648 | 1,199 | omim | https://www.omim.org/entry/611382 | 2019-09-22T16:03:21 | {"omim": ["611382"], "synonyms": ["Alternative titles", "LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 3"]} |
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