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Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical ... | Primary pigmented nodular adrenocortical disease | c1864851 | 2,300 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=189439 | 2021-01-23T17:01:28 | {"gard": ["10906"], "mesh": ["C566472"], "omim": ["610475", "610489", "614190", "615830"], "icd-10": ["E24.8"], "synonyms": ["PPNAD", "Primary pigmented nodular adrenal dysplasia"]} |
Breus' mole
Other namesOva tuberculosa,[citation needed] massive mole
SpecialtyObstetrics
Breus' mole is a massive, subchorionic, tuberous hematoma, formed out of maternal blood in the uterus in pregnancy. It was first described by Karl Breus in 1892.[1][2][3]
## Contents
* 1 Cause and pathogenesis
* 2... | Breus' mole | c1390676 | 2,301 | wikipedia | https://en.wikipedia.org/wiki/Breus%27_mole | 2021-01-18T19:07:13 | {"umls": ["C1390676"], "wikidata": ["Q28439873"]} |
Hermansky–Pudlak syndrome
Other namesAlbinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, Delta storage pool disease
Hermansky–Pudlak syndrome is inherited via autosomal recessive manner
SpecialtyEndocrinology
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or... | Hermansky–Pudlak syndrome | c0079504 | 2,302 | wikipedia | https://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome | 2021-01-18T18:32:22 | {"gard": ["6643"], "mesh": ["D022861"], "umls": ["C0079504"], "orphanet": ["231537", "79430", "231531", "280663"], "wikidata": ["Q1506216"]} |
Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Ag... | Benign familial neonatal-infantile seizures | c0220669 | 2,303 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927 | 2021-01-23T19:01:58 | {"gard": ["1518"], "mesh": ["D020936"], "omim": ["607745"], "umls": ["C0220669"], "icd-10": ["G40.4"], "synonyms": ["BFNIS", "Benign neonatal-infantile epilepsy"]} |
Myelodysplastic syndrome with excess blasts is a rare type of myelodysplastic syndrome (MDS). In this type of MDS, the number of very early forms of blood cells (blasts) are increased in the bone marrow and/or blood. There is also a low numbers of at least one type of blood cell. The early forms of cell types in the ... | Myelodysplastic Syndrome With Excess Blasts | c0002894 | 2,304 | gard | https://rarediseases.info.nih.gov/diseases/13578/myelodysplastic-syndrome-with-excess-blasts | 2021-01-18T17:58:51 | {"mesh": ["D000754"], "icd-10": ["D46-2"], "orphanet": ["86839"], "synonyms": ["Refractory anemia with excess blasts", "RAEB"]} |
This article is written like a personal reflection, personal essay, or argumentative essay that states a Wikipedia editor's personal feelings or presents an original argument about a topic. Please help improve it by rewriting it in an encyclopedic style. (July 2008) (Learn how and when to remove this template message... | Epilepsia partialis continua | c0085543 | 2,305 | wikipedia | https://en.wikipedia.org/wiki/Epilepsia_partialis_continua | 2021-01-18T18:29:14 | {"mesh": ["D017036"], "umls": ["C0085543"], "icd-9": ["345.71", "345.7"], "icd-10": ["G40.5"], "wikidata": ["Q4898733"]} |
Xanthoma striatum palmare
SpecialtyDermatology
Xanthoma striatum palmare is a cutaneous condition characterized by xanthomas of the palmar creases which are almost diagnostic for dysbetalipoproteinemia.[1]
Xanthomas consist of accumulations of lipids within macrophages deposited within the dermis of the s... | Xanthoma striatum palmare | c4476834 | 2,306 | wikipedia | https://en.wikipedia.org/wiki/Xanthoma_striatum_palmare | 2021-01-18T18:43:31 | {"wikidata": ["Q8043040"]} |
This article's tone or style may not reflect the encyclopedic tone used on Wikipedia. See Wikipedia's guide to writing better articles for suggestions. (September 2013) (Learn how and when to remove this template message)
Aboulomania (from Greek a– 'without', and boulē 'will')[1] is a mental disorder in whi... | Aboulomania | None | 2,307 | wikipedia | https://en.wikipedia.org/wiki/Aboulomania | 2021-01-18T18:31:37 | {"wikidata": ["Q4668562"]} |
medical condition
Acneiform eruption
SpecialtyDermatology
Acneiform eruptions are a group of dermatoses including acne vulgaris, rosacea, folliculitis, and perioral dermatitis.[1] Restated, acneiform eruptions are follicular eruptions characterized by papules and pustules resembling acne.[2] The hybrid te... | Acneiform eruption | c0175167 | 2,308 | wikipedia | https://en.wikipedia.org/wiki/Acneiform_eruption | 2021-01-18T18:28:02 | {"mesh": ["D017486"], "umls": ["C0175167"], "icd-10": ["L70.8"], "wikidata": ["Q2365426"]} |
Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs... | Splenogonadal fusion-limb defects-micrognathia syndrome | c1866745 | 2,309 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2063 | 2021-01-23T17:08:19 | {"gard": ["4963"], "mesh": ["C537318"], "omim": ["183300"], "umls": ["C1866745"], "icd-10": ["Q87.8"], "synonyms": ["SGFLD syndrome"]} |
A number sign (#) is used with this entry because of evidence that trimethylaminuria, sometimes referred to as fish-odor syndrome, is caused by homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 (FMO3; 136132) on chromosome 1q24.
Another inborn error of metabolism acc... | TRIMETHYLAMINURIA | c0342739 | 2,310 | omim | https://www.omim.org/entry/602079 | 2019-09-22T16:14:07 | {"doid": ["0080361"], "mesh": ["C536561"], "omim": ["602079"], "icd-10": ["E72.52"], "orphanet": ["468726"], "synonyms": ["Alternative titles", "FISH-ODOR SYNDROME"], "genereviews": ["NBK1103"]} |
Potassium-aggravated myotonia
Other namesPAM[1]
This condition is inherited in an autosomal dominant manner
Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle. [2]Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing ... | Potassium-aggravated myotonia | c2931826 | 2,311 | wikipedia | https://en.wikipedia.org/wiki/Potassium-aggravated_myotonia | 2021-01-18T18:30:51 | {"gard": ["4459"], "mesh": ["C538353"], "umls": ["C2931826"], "orphanet": ["612"], "wikidata": ["Q7234683"]} |
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, periphe... | MEDNIK syndrome | c1836330 | 2,312 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171851 | 2021-01-23T17:48:31 | {"mesh": ["C563739"], "omim": ["609313"], "umls": ["C1836330"], "synonyms": ["Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome", "Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome"]} |
A number sign (#) is used with this entry because of evidence that Teebi hypertelorism syndrome (TBHS) is caused by heterozygous mutation in the SPECC1L gene (614140) on chromosome 22q11.
Clinical Features
Teebi (1987) described a 4-generation Arab family in which many individuals showed striking hypertelorism with... | HYPERTELORISM, TEEBI TYPE | c0796179 | 2,313 | omim | https://www.omim.org/entry/145420 | 2019-09-22T16:39:51 | {"mesh": ["C536951"], "omim": ["145420"], "orphanet": ["1519"], "synonyms": ["Alternative titles", "Teebi hypertelorism syndrome", "Teebi syndrome", "BRACHYCEPHALOFRONTONASAL DYSPLASIA", "Brachycephalofrontonasal dysplasia", "Craniofrontonasal dysplasia, Teebi type"]} |
Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.
There are five types of Loeys-Dietz syndrome, labelled types I through V, which are distinguished by... | Loeys-Dietz syndrome | c4551955 | 2,314 | medlineplus | https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome/ | 2021-01-27T08:24:59 | {"gard": ["10788"], "mesh": ["D055947"], "omim": ["609192", "610168", "613795", "614816", "615582"], "synonyms": []} |
## Summary
### Clinical characteristics.
LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladde... | LTBP4-Related Cutis Laxa | None | 2,315 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK343782/ | 2021-01-18T21:15:27 | {"synonyms": ["Autosomal Recessive Cutis Laxa Type 1C (ARCL1C)", "Urban-Rifkin-Davis Syndrome (URDS)"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (October 2018)
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citat... | Dysphrenia | None | 2,316 | wikipedia | https://en.wikipedia.org/wiki/Dysphrenia | 2021-01-18T19:04:04 | {"wikidata": ["Q3710022"]} |
A number sign (#) is used with this entry because of evidence that rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is caused by compound heterozygous mutation in the TBC1D24 gene (613577) on chromosome 16p13.
Description
Rolandic epilepsy with paroxysmal exercise-induced ... | EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP | c1842531 | 2,317 | omim | https://www.omim.org/entry/608105 | 2019-09-22T16:08:15 | {"mesh": ["C535499"], "omim": ["608105"], "orphanet": ["163727"], "synonyms": ["Alternative titles", "RE-PED-WC"]} |
A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.
## Epidemiology
The overall prevalence of SCAs is 1/33,000-1/50,... | Autosomal dominant cerebellar ataxia type I | None | 2,318 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94145 | 2021-01-23T18:26:54 | {"icd-10": ["G11.8"], "synonyms": ["ADCA1", "ADCAI", "Autosomal dominant cerebellar ataxia type 1", "Cerebellar plus syndrome"]} |
A rare genetic gynecological tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of BRCA1 and BRCA2 mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most BRCA1-associated tumors are invasive duct... | Hereditary breast cancer | c0346153 | 2,319 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=227535 | 2021-01-23T18:59:35 | {"mesh": ["C562840"], "omim": ["114480", "604370", "612555", "613399"], "umls": ["C0346153"], "icd-10": ["C50.0", "C50.1", "C50.2", "C50.3", "C50.4", "C50.5", "C50.6", "C50.8"], "synonyms": ["Familial breast cancer", "Familial breast carcinoma", "Hereditary breast carcinoma"]} |
The most common type of cancers affecting the animal's nose are carcinomas and sarcomas, both of which are locally invasive. The most common sites for metastasis are the lymph nodes and the lungs, but can also include other organs.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Reference... | Nose cancer in cats and dogs | None | 2,320 | wikipedia | https://en.wikipedia.org/wiki/Nose_cancer_in_cats_and_dogs | 2021-01-18T18:28:07 | {"wikidata": ["Q7061746"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant osteopetrosis-1 (OPTA1) is caused by heterozygous mutation in the LRP5 gene (603506) on chromosome 11q13.
Description
The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to ... | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 | c1843330 | 2,321 | omim | https://www.omim.org/entry/607634 | 2019-09-22T16:08:56 | {"doid": ["0110937"], "mesh": ["C536056"], "omim": ["607634"], "orphanet": ["2783"], "synonyms": ["Alternative titles", "OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I"]} |
Factor V Leiden thrombophilia
SpecialtyHematology
Factor V Leiden (rs6025 or F5 p.R506Q[1]) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability). Due to this mutation, protein C, an anticoagulant protein... | Factor V Leiden | c0584960 | 2,322 | wikipedia | https://en.wikipedia.org/wiki/Factor_V_Leiden | 2021-01-18T18:28:22 | {"gard": ["6403"], "mesh": ["C095381"], "icd-9": ["289.81"], "icd-10": ["D68.5"], "wikidata": ["Q185986"]} |
Type III hypersensitivity
Immune complex
SpecialtyImmunology
Type III hypersensitivity occurs when there is accumulation of immune complexes (antigen-antibody complexes) that have not been adequately cleared by innate immune cells, giving rise to an inflammatory response and attraction of leukocytes. Suc... | Type III hypersensitivity | c0020951 | 2,323 | wikipedia | https://en.wikipedia.org/wiki/Type_III_hypersensitivity | 2021-01-18T18:33:58 | {"mesh": ["D007105"], "umls": ["C0020951"], "wikidata": ["Q5898315"]} |
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.
People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet... | Bloom syndrome | c0005859 | 2,324 | medlineplus | https://medlineplus.gov/genetics/condition/bloom-syndrome/ | 2021-01-27T08:25:18 | {"gard": ["915"], "mesh": ["D001816"], "omim": ["210900"], "synonyms": []} |
For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.
Clinical Features
Naz et al. (2010) reported a 4-generation Pakistani family in which 4 individuals, 2 males and 2 females, had hypotrichosis. All 4 individuals had brown, thin, sparse hair on scalp, arms, and legs. Eyebrows and ey... | HYPOTRICHOSIS 9 | c1854310 | 2,325 | omim | https://www.omim.org/entry/614237 | 2019-09-22T15:55:57 | {"doid": ["0110706"], "mesh": ["C537160"], "omim": ["614237"], "orphanet": ["55654"]} |
A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
## Epidemiology
The worldwide prevalence of OCA1 is estimated at 1/40,000. OCA type 1A (OCA1A) is ... | Oculocutaneous albinism type 1A | c0268494 | 2,326 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79431 | 2021-01-23T18:28:01 | {"mesh": ["C537728"], "omim": ["203100"], "icd-10": ["E70.3"], "synonyms": ["OCA1A", "Tyrosinase-negative oculocutaneous albinism"]} |
Abortion in Andorra is banned except in cases where it is necessary to save the life of a pregnant woman.[1][2]
In Andorra, a woman who performs an abortion on herself or gives consent to another person to perform an abortion is subject to up two and a half years imprisonment. A person who performs an abortion with ... | Abortion in Andorra | None | 2,327 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Andorra | 2021-01-18T18:37:52 | {"wikidata": ["Q4668439"]} |
Not to be confused with Biceps femoris tendon rupture.
Distal biceps tendon rupture, with proximal retraction of the muscle.
Panoramic ultrasonography of a proximal biceps tendon rupture. Top image shows the contralateral normal side, and lower image shows a retracted muscle, with a hematoma filling out the pro... | Biceps tendon rupture | c0347952 | 2,328 | wikipedia | https://en.wikipedia.org/wiki/Biceps_tendon_rupture | 2021-01-18T18:53:51 | {"wikidata": ["Q879257"]} |
Not to be confused with Dupuytren fracture.
Disease with gradual bending of the fingers due to scar tissue build-up within the palms
Dupuytren's contracture
Other namesDupuytren's disease, Morbus Dupuytren, Viking disease, and Celtic hand,[1] contraction of palmar fascia, palmar fascial fibromatosis, palmar fibro... | Dupuytren's contracture | c0013312 | 2,329 | wikipedia | https://en.wikipedia.org/wiki/Dupuytren%27s_contracture | 2021-01-18T18:53:57 | {"mesh": ["D004387"], "umls": ["C0013312"], "icd-9": ["728.6"], "icd-10": ["M72.0"], "wikidata": ["Q1330254"]} |
Colour anomaly, sometimes referred to as partial colour blindness, is an inherited condition in which people have full trichromatic colour vision, but do not make the same colour matches as the majority of the human population. It is much more common than dichromacy or other forms of colour blindness, affecting a... | Color anomaly | c4023316 | 2,330 | wikipedia | https://en.wikipedia.org/wiki/Color_anomaly | 2021-01-18T18:42:14 | {"umls": ["C4023316"], "wikidata": ["Q26739327"]} |
Actinic cheilitis
Other namesAtinic cheilosis,[1] Atinic keratosis of lip,[2] Solar cheilosis[2],Sailor's lip,[3] Farmer's lip[4]
Picture of Actinic Cheilitis. This is also known as sailor's lip or farmer's lip.
SpecialtyDermatology
Actinic cheilitis is cheilitis (lip inflammation) caused by long term ... | Actinic cheilitis | c0267026 | 2,331 | wikipedia | https://en.wikipedia.org/wiki/Actinic_cheilitis | 2021-01-18T18:30:06 | {"gard": ["9619"], "mesh": ["C535669"], "icd-9": ["692.74", "692.82", "692.72"], "icd-10": ["L56.8"], "wikidata": ["Q2514487"]} |
Bobble-head doll syndrome
SpecialtyNeurology
Bobble-head doll syndrome is a rare neurological movement disorder in which patients, usually children around age 3, begin to bob their head and shoulders forward and back, or sometimes side-to-side, involuntarily, in a manner reminiscent of a bobblehead doll. T... | Bobble-head doll syndrome | c2931137 | 2,332 | wikipedia | https://en.wikipedia.org/wiki/Bobble-head_doll_syndrome | 2021-01-18T18:28:35 | {"gard": ["9731"], "mesh": ["C536241"], "umls": ["C2931137"], "icd-9": ["348"], "icd-10": ["G93.0"], "wikidata": ["Q1451507"]} |
A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and ty... | Primary cutaneous follicle center lymphoma | c1333171 | 2,333 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178540 | 2021-01-23T17:20:11 | {"umls": ["C1333171", "C1631066"], "icd-10": ["C82.6"], "synonyms": ["PCFCL"]} |
For general learning disability, see Intellectual disability.
Range of neurodevelopmental conditions
"Slow learner" redirects here. For the collection of short stories by Thomas Pynchon, see Slow Learner.
Learning disability
Other namesLearning difficulties,[1][2] Developmental academic disorder,[3][4] Nonverbal... | Learning disability | c0751265 | 2,334 | wikipedia | https://en.wikipedia.org/wiki/Learning_disability | 2021-01-18T18:48:33 | {"mesh": ["D007859"], "umls": ["C0751265", "C0023186"], "icd-9": ["315.0", "315.3"], "wikidata": ["Q860740"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive primary microcephaly-24 (MCPH24) is caused by homozygous mutation in the NUP37 gene (609264) on chromosome 12q23. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneit... | MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE | None | 2,335 | omim | https://www.omim.org/entry/618179 | 2019-09-22T15:43:16 | {"omim": ["618179"], "orphanet": ["93213"], "synonyms": ["Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis"]} |
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
## Epidemiology
The prevalence is approximately 1/100,000. The annual... | Gaucher disease | c0017205 | 2,336 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=355 | 2021-01-23T18:58:58 | {"gard": ["8233"], "mesh": ["D005776"], "omim": ["230800", "230900", "231000", "231005", "608013", "610539"], "umls": ["C0017205"], "icd-10": ["E75.2"], "synonyms": ["Acid beta-glucosidase deficiency", "Glucocerebrosidase deficiency"]} |
Blue diaper syndrome
Other namesOther Names: Hypercalcemia, familial, with nephrocalcinosis and indicanuria
Blue diaper syndrome has an autosomal recessive pattern of inheritance.
Medicationnone
Blue diaper syndrome is a rare, autosomal recessive metabolic disorder characterized in infants by bluish urine-... | Blue diaper syndrome | c0268478 | 2,337 | wikipedia | https://en.wikipedia.org/wiki/Blue_diaper_syndrome | 2021-01-18T18:34:59 | {"gard": ["5939"], "mesh": ["C536239"], "umls": ["C0268478"], "orphanet": ["94086"], "wikidata": ["Q503458"]} |
Speech delay, also known as alalia, refers to a delay in the development or use of the mechanisms that produce speech.[1] Speech – as distinct from language – is the actual process of making sounds, using such organs and structures as the lungs, vocal cords, mouth, tongue, teeth, etc. Language delay refers to a delay... | Speech delay | c0241210 | 2,338 | wikipedia | https://en.wikipedia.org/wiki/Speech_delay | 2021-01-18T18:53:29 | {"mesh": ["D007805"], "umls": ["C0241210"], "wikidata": ["Q2301465"]} |
B-cell lymphoma
Micrograph showing a large B cell lymphoma. Field stain.
SpecialtyHematology, oncology
The B-cell lymphomas are types of lymphoma affecting B cells. Lymphomas are "blood cancers" in the lymph nodes. They develop more frequently in older adults and in immunocompromised individuals.
B-cell... | B-cell lymphoma | c0079731 | 2,339 | wikipedia | https://en.wikipedia.org/wiki/B-cell_lymphoma | 2021-01-18T18:37:09 | {"gard": ["5877"], "mesh": ["D016393"], "umls": ["C1332362"], "icd-10": ["C85.1"], "wikidata": ["Q4833719"]} |
Pes anserine bursitis
Pes anserine is on the lower right side of image (Pes anserine bursa lies beneath)
SpecialtyOrthopedic
Pes anserine bursitis is an inflammatory condition of the medial (inner) knee at the anserine bursa, a sub muscular bursa, just below the pes anserinus.
## Contents
* 1 Patholo... | Pes anserine bursitis | None | 2,340 | wikipedia | https://en.wikipedia.org/wiki/Pes_anserine_bursitis | 2021-01-18T18:32:28 | {"umls": ["CL1378544"], "wikidata": ["Q7171312"]} |
Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.
## Epidemiology
Oguchi disease is a very rare condition with approximately 50 cases described in the literature to date. It was originally discovere... | Oguchi disease | c1306122 | 2,341 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75382 | 2021-01-23T18:17:31 | {"gard": ["10118"], "mesh": ["C537743"], "omim": ["258100", "613411"], "umls": ["C1306122"], "icd-10": ["H53.6"], "synonyms": ["Congenital stationary night blindness, Oguchi type", "Oguchi syndrome"]} |
Inflammation of the paranasal sinuses due to fungal infection
Fungal sinusitis
Aspergillus is responsible in 90% of cases of fungal sinusitis
SpecialtyPulmonology
SymptomsFacial pain[1]
TypesInvasive, Non-invasive[1]
Diagnostic methodCT scan, MRI[1]
TreatmentSurgical(Management depends on which type)[1] ... | Fungal sinusitis | c1142077 | 2,342 | wikipedia | https://en.wikipedia.org/wiki/Fungal_sinusitis | 2021-01-18T18:47:27 | {"umls": ["C1142077"], "icd-10": ["J32.9"], "wikidata": ["Q23808336"]} |
Most common form of cutaneous mastocytosis
Urticaria pigmentosa
Other namesGeneralized eruption of cutaneous mastocytosis (childhood type)
The back of a child with urticaria pigmentosa
SpecialtyMedical genetics
Urticaria pigmentosa (also known as generalized eruption of cutaneous mastocytosis (childho... | Urticaria pigmentosa | c0042111 | 2,343 | wikipedia | https://en.wikipedia.org/wiki/Urticaria_pigmentosa | 2021-01-18T18:47:07 | {"gard": ["12093"], "mesh": ["D014582"], "umls": ["C0042111"], "icd-9": ["757.33"], "orphanet": ["79457"], "wikidata": ["Q3886247"]} |
A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde d... | Laurence-Moon syndrome | c0023138 | 2,344 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2377 | 2021-01-23T18:15:10 | {"gard": ["12635"], "mesh": ["D007849"], "omim": ["245800"], "umls": ["C0023138"], "icd-10": ["Q87.8"]} |
Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrie... | Intestinal pseudo-obstruction | c1864996 | 2,345 | gard | https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction | 2021-01-18T17:59:45 | {"mesh": ["C566502"], "omim": ["609629"], "synonyms": ["Intestinal pseudoobstruction", "Hollow visceral myopathy"]} |
Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can... | Tumor necrosis factor receptor-associated periodic syndrome | c1275126 | 2,346 | medlineplus | https://medlineplus.gov/genetics/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome/ | 2021-01-27T08:25:18 | {"gard": ["8457"], "mesh": ["C536657"], "omim": ["142680"], "synonyms": []} |
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.
## Epidemiology
Prevalence has been estimated at 1/100,000.
## Clinical description
Onset may occur at any age but is most... | Hereditary angioedema | c0019243 | 2,347 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91378 | 2021-01-23T19:04:33 | {"gard": ["5979"], "mesh": ["D054179"], "omim": ["106100", "610618"], "umls": ["C0019243"], "icd-10": ["D84.1"], "synonyms": ["Familial angioneurotic edema", "HAE", "Hereditary angioneurotic edema", "Hereditary bradykinine-induced angioedema", "Hereditary non histamine-induced angioedema"]} |
A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-19 (LCA19) is caused by homozygous mutation in the USP45 gene (618439) on chromosome 6q16. One such patient has been reported.
Description
Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early c... | LEBER CONGENITAL AMAUROSIS 19 | None | 2,348 | omim | https://www.omim.org/entry/618513 | 2019-09-22T15:41:36 | {"omim": ["618513"]} |
Stimmler et al. (1970) described 2 sisters born in 1963 and 1964 with microcephaly at birth, low birth weight, severe mental retardation and dwarfism, small teeth, and diabetes mellitus. Excessive quantities of alanine were found in the urine. Alanine, pyruvate, and lactate were elevated in the blood. Pyruvate was th... | ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS | c1859965 | 2,349 | omim | https://www.omim.org/entry/202900 | 2019-09-22T16:31:22 | {"mesh": ["C565968"], "omim": ["202900"], "orphanet": ["3199"], "synonyms": ["Alternative titles", "STIMMLER SYNDROME"]} |
Lacquer dermatitis
SpecialtyDermatology
Lacquer dermatitis (also known as "Lacquer sensitivity") is a cutaneous condition characterized by a contact dermatitis to various lacquers.[1]
## See also[edit]
* Toxicodendron dermatitis
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P... | Lacquer dermatitis | None | 2,350 | wikipedia | https://en.wikipedia.org/wiki/Lacquer_dermatitis | 2021-01-18T18:57:12 | {"wikidata": ["Q6468835"]} |
A number sign (#) is used with this entry because Smith-McCort dysplasia-1 (SMC1) is caused by homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.
Mutations in the same gene cause Dyggve-Melchior-Clausen disease (DMC; 223800), which is radiologically identical but has the a... | SMITH-MCCORT DYSPLASIA 1 | c1846431 | 2,351 | omim | https://www.omim.org/entry/607326 | 2019-09-22T16:09:25 | {"doid": ["0060247"], "mesh": ["C564589"], "omim": ["607326"], "orphanet": ["178355"], "synonyms": ["Alternative titles", "SMC"]} |
Buschke–Ollendorff sign
Other namesDermatofibrosis lenticularis disseminata[1]
Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance.
SymptomsOsteopoikilosis, bone pain[2]
CausesMutations in the LEMD3 gene.[2]
Diagnostic methodX-ray, ultrasound[3]
TreatmentSurgery for hearing loss(o... | Buschke–Ollendorff syndrome | c0265514 | 2,352 | wikipedia | https://en.wikipedia.org/wiki/Buschke%E2%80%93Ollendorff_syndrome | 2021-01-18T18:37:30 | {"gard": ["1044"], "mesh": ["C537415"], "orphanet": ["1306"], "wikidata": ["Q5001316"]} |
A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.
*[v]: V... | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | c4014419 | 2,353 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=412069 | 2021-01-23T18:04:51 | {"omim": ["615829"], "icd-10": ["Q87.8"], "synonyms": ["Xia-Gibbs syndrome"]} |
For a clinical description of atopic dermatitis (ATOD) and an overview of linkage studies, see ATOD1 (603165).
Mapping
Using a nonparametric affected relative-pair method in 109 atopic dermatitis pedigrees, Bradley et al. (2002) conducted a genomewide linkage analysis with 367 microsatellite markers and found linka... | DERMATITIS, ATOPIC, 9 | c3150764 | 2,354 | omim | https://www.omim.org/entry/613519 | 2019-09-22T15:58:29 | {"omim": ["613519"]} |
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: "Pascual-Castroviejo syndrome type 1" – news · newspapers · books · scholar · JSTOR (April 2018) (Learn how and when to ... | Pascual-Castroviejo syndrome type 1 | c1859252 | 2,355 | wikipedia | https://en.wikipedia.org/wiki/Pascual-Castroviejo_syndrome_type_1 | 2021-01-18T18:32:45 | {"gard": ["1210"], "mesh": ["C565862"], "umls": ["C1859252"], "orphanet": ["1394"], "wikidata": ["Q55629168"]} |
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse.
People with ADCADN have difficulty coordinating movements (ataxia) and mild to moderate hearing loss caused by abnormalities of... | Autosomal dominant cerebellar ataxia, deafness, and narcolepsy | c3807295 | 2,356 | medlineplus | https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy/ | 2021-01-27T08:24:53 | {"gard": ["12372"], "omim": ["604121"], "synonyms": []} |
ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occ... | ACAD9 deficiency | c1970173 | 2,357 | medlineplus | https://medlineplus.gov/genetics/condition/acad9-deficiency/ | 2021-01-27T08:25:28 | {"gard": ["3908"], "mesh": ["C567006"], "omim": ["611126"], "synonyms": []} |
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.
## Epidemiology
Multicentric osteolysis-nodulosis-arthropath... | Multicentric osteolysis-nodulosis-arthropathy spectrum | c1850155 | 2,358 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=371428 | 2021-01-23T18:29:49 | {"mesh": ["C536051"], "omim": ["259600", "277950"], "icd-10": ["M89.5"], "synonyms": ["MONA spectrum", "NAO syndrome", "Nodulosis-arthropathy-osteolysis syndrome", "Torg-Winchester syndrome"]} |
17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.
Signs and symptoms related to 17q12 duplications vary significantly, even among members of the s... | 17q12 duplication | c3281137 | 2,359 | medlineplus | https://medlineplus.gov/genetics/condition/17q12-duplication/ | 2021-01-27T08:25:41 | {"omim": ["614526"], "synonyms": []} |
Injury caused by video games
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. (August 2018) (Learn how and when to remove this template message) ... | Nintendo thumb | None | 2,360 | wikipedia | https://en.wikipedia.org/wiki/Nintendo_thumb | 2021-01-18T19:01:56 | {"wikidata": ["Q7039177"]} |
Alagille syndrome is a genetic syndrome that can affect the liver and other parts of the body. The liver problems result from having fewer small bile ducts than normal in the liver. This leads to bile building-up inside the liver, which in turn causes liver scarring and damage. Signs and symptoms of Alagille syndrome... | Alagille syndrome | c0085280 | 2,361 | gard | https://rarediseases.info.nih.gov/diseases/804/alagille-syndrome | 2021-01-18T18:02:13 | {"mesh": ["D016738"], "omim": ["118450"], "orphanet": ["52"], "synonyms": ["Hepatic ductular hypoplasia", "Watson Alagille syndrome", "Alagille-Watson syndrome", "Cholestasis with peripheral pulmonary stenosis", "Arteriohepatic dysplasia", "Paucity of interlobular bile ducts", "Cardiovertebral syndrome", "Watson-Miller... |
A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typical... | Nodular fasciitis | c0410005 | 2,362 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477742 | 2021-01-23T17:52:28 | {"synonyms": ["Pseudosarcomatous fasciitis", "Pseudosarcomatous fibromatosis"]} |
Binswanger's disease
Other namesSubcortical arteriosclerotic encephalopathy
SpecialtyNeurology
Binswanger's disease, also known as subcortical leukoencephalopathy and subcortical arteriosclerotic encephalopathy (SAE),[1] is a form of small vessel vascular dementia caused by damage to the white brain matter.[... | Binswanger's disease | c0270786 | 2,363 | wikipedia | https://en.wikipedia.org/wiki/Binswanger%27s_disease | 2021-01-18T18:43:20 | {"gard": ["5925"], "mesh": ["D015140"], "icd-9": ["290.12"], "icd-10": ["I67.3"], "wikidata": ["Q1399293"]} |
A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
... | Lissencephaly with cerebellar hypoplasia type F | c4274989 | 2,364 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100016 | 2021-01-23T17:36:48 | {"icd-10": ["Q04.3"]} |
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 2014) (Learn how and when to remove this template message)
Medical fetishism refer... | Medical fetishism | None | 2,365 | wikipedia | https://en.wikipedia.org/wiki/Medical_fetishism | 2021-01-18T18:29:57 | {"wikidata": ["Q1413869"]} |
This article is about oral exposure to zinc. For inhalation toxicity, see Metal fume fever.
Zinc toxicity
Zinc
SpecialtyEmergency medicine
Zinc toxicity is a medical condition involving an overdose on, or toxic overexposure to, zinc. Such toxicity levels have been seen to occur at ingestion of greater t... | Zinc toxicity | None | 2,366 | wikipedia | https://en.wikipedia.org/wiki/Zinc_toxicity | 2021-01-18T19:05:39 | {"icd-9": ["985.8"], "icd-10": ["T56.5"], "wikidata": ["Q10724674"]} |
Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bo... | Fibrous dysplasia | c0259779 | 2,367 | gard | https://rarediseases.info.nih.gov/diseases/6444/fibrous-dysplasia | 2021-01-18T18:00:29 | {"umls": ["C0259779"], "orphanet": ["249"], "synonyms": ["Fibrous dysplasia of bone"]} |
An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
## Epidemiology
At least 132 families with 320 affected individuals have been reported in the ... | Allan-Herndon-Dudley syndrome | c0795889 | 2,368 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=59 | 2021-01-23T18:05:21 | {"gard": ["5617"], "mesh": ["C537047"], "omim": ["300523"], "umls": ["C0795889"], "icd-10": ["G31.8"], "synonyms": ["AHDS", "MCT8 deficiency", "Monocarboxylate transporter 8 deficiency", "X-linked intellectual disability-hypotonia syndrome"]} |
Group of disorders
Epstein–Barr virus-associated lymphoproliferative diseases
Other namesEBV-associated lymphoproliferative diseases
SpecialtyHematology, oncology, Infectious disease, virology
CausesEpstein–Barr virus
Epstein–Barr virus-associated lymphoproliferative diseases (also termed EBV-associated l... | Epstein–Barr virus-associated lymphoproliferative diseases | None | 2,369 | wikipedia | https://en.wikipedia.org/wiki/Epstein%E2%80%93Barr_virus-associated_lymphoproliferative_diseases | 2021-01-18T18:33:57 | {"wikidata": ["Q60791668"]} |
Uveal melanoma (155720) is the most common primary intraocular malignancy. Monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease. To obtain positional information on putative tumor suppressor genes on chromoso... | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 | c0346388 | 2,370 | omim | https://www.omim.org/entry/606660 | 2019-09-22T16:10:14 | {"doid": ["6039"], "omim": ["606660"], "orphanet": ["39044"], "synonyms": ["Alternative titles", "UVM1"]} |
Pelvis justo major (also called "Giant Pelvis") is a rare condition of the adult female pelvis where the pelvis flairs above the Iliopectineal line.[1] It is 1.5 or more times larger than an average pelvis in every direction and is at least 42 cm (16.5 inches) biiliac width. Even though this condition is classified a... | Pelvis justo major | c0265721 | 2,371 | wikipedia | https://en.wikipedia.org/wiki/Pelvis_justo_major | 2021-01-18T19:03:11 | {"umls": ["C0265721"], "icd-10": ["Q74.2"], "wikidata": ["Q7161813"]} |
A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal ... | Mesoaxial synostotic syndactyly with phalangeal reduction | c1836206 | 2,372 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157801 | 2021-01-23T17:39:47 | {"gard": ["10590"], "mesh": ["C563721"], "omim": ["609432"], "umls": ["C1836206"], "icd-10": ["Q70.0", "Q70.2"], "synonyms": ["MSSD", "Syndactyly type 9", "Syndactyly, Malik-Percin type"]} |
Yellow nail syndrome
Other namesprimary lymphedema
Yellow nail syndrome: This patient has a 20-year history of severe lymphedema of her legs; thick, ridged, yellowish, hypercurved thumbnails (top right); similarly affected, yellow-green to brown toenails (bottom right); and bilateral, chylous pleural effusions. A... | Yellow nail syndrome | c0221348 | 2,373 | wikipedia | https://en.wikipedia.org/wiki/Yellow_nail_syndrome | 2021-01-18T19:05:13 | {"gard": ["184"], "mesh": ["D056684"], "umls": ["C0221348"], "orphanet": ["662"], "wikidata": ["Q1786851"]} |
Lymphatic disease
SpecialtyLymphologist
Lymphatic disease is a class of disorders which directly affect the components of the lymphatic system.
Examples include Castleman's disease[1] and lymphedema.[2]
## Contents
* 1 Types
* 2 References
* 3 External links
## Types[edit]
Diseases and disorder
... | Lymphatic disease | c0024228 | 2,374 | wikipedia | https://en.wikipedia.org/wiki/Lymphatic_disease | 2021-01-18T18:41:02 | {"mesh": ["D008206"], "umls": ["C0024228"], "wikidata": ["Q6708237"]} |
Not to be confused with Chondroma.
Chordoma
MRI of extensive clival chordoma in 17-year-old male patient, axial view. Tumor in the nasopharynx extending from nasal cavity to brainstem posteriorly is clearly visible.
SpecialtyOncology
Chordoma is a rare slow-growing neoplasm thought to arise from cellula... | Chordoma | c0008487 | 2,375 | wikipedia | https://en.wikipedia.org/wiki/Chordoma | 2021-01-18T18:37:09 | {"gard": ["1303"], "mesh": ["D002817"], "umls": ["C0008487"], "orphanet": ["178"], "wikidata": ["Q1076389"]} |
A number sign (#) is used with this entry because of evidence that Crouzon syndrome is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-2 (FGFR2; 176943) on chromosome 10q26.
See also Crouzon syndrome with acanthosis nigricans (CAN; 612247), a distinct disorder caused by a s... | CROUZON SYNDROME | c2931196 | 2,376 | omim | https://www.omim.org/entry/123500 | 2019-09-22T16:42:43 | {"doid": ["2339"], "mesh": ["D003394"], "omim": ["123500"], "orphanet": ["207"], "synonyms": ["Crouzon craniofacial dysostosis", "Alternative titles", "CRANIOFACIAL DYSOSTOSIS, TYPE I", "CROUZON CRANIOFACIAL DYSOSTOSIS"], "genereviews": ["NBK1455"]} |
A number sign (#) is used with this entry because of evidence that the Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutation in the gene encoding glypican-3 (GPC3; 300037) on chromosome Xq26.
Some evidence suggests that disruption of the GPC4 gene (300168), which is adjacent to the GPC3 gene, may also ... | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | c0796154 | 2,377 | omim | https://www.omim.org/entry/312870 | 2019-09-22T16:17:16 | {"doid": ["0060248"], "mesh": ["C537340"], "omim": ["312870"], "orphanet": ["373"], "synonyms": ["Alternative titles", "SGBS", "BULLDOG SYNDROME", "DYSPLASIA GIGANTISM SYNDROME, X-LINKED", "GOLABI-ROSEN SYNDROME", "SIMPSON DYSMORPHIA SYNDROME"], "genereviews": ["NBK1219", "NBK1294"]} |
A number sign (#) is used with this entry because this form of platelet-type bleeding disorder (BDPLT11) can be caused by compound heterozygous mutation in the GP6 gene (605546) on chromosome 19q13.
Description
Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by... | BLEEDING DISORDER, PLATELET-TYPE, 11 | c3280120 | 2,378 | omim | https://www.omim.org/entry/614201 | 2019-09-22T15:56:11 | {"doid": ["0111057"], "omim": ["614201"], "orphanet": ["98885", "73271"], "synonyms": ["Alternative titles", "GP VI DEFICIENCY", "GLYCOPROTEIN VI DEFICIENCY"]} |
3q29 microdeletion syndrome
Other names3qter deletion, Monosomy 3q29
Chromosome 3 is associated with this condition
3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005.[1][2]
## Contents
* 1 Presentatio... | 3q29 microdeletion syndrome | c2674949 | 2,379 | wikipedia | https://en.wikipedia.org/wiki/3q29_microdeletion_syndrome | 2021-01-18T18:51:46 | {"gard": ["11974"], "mesh": ["C567184"], "umls": ["C2674949"], "orphanet": ["65286"], "wikidata": ["Q4636618"]} |
T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thr... | T-B- severe combined immunodeficiency | None | 2,380 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317419 | 2021-01-23T17:54:36 | {"icd-10": ["D81.1"], "synonyms": ["T-B- SCID"]} |
A number sign (#) is used with this entry because congenital dyserythropoietic anemia type IV (CDAN4) is caused by heterozygous mutation in the KLF1 gene (600599), which encodes a transcriptional activator, on chromosome 19p13.
Description
Congenital dyserythropoietic anemia type IV is an autosomal dominant inherit... | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV | c3150926 | 2,381 | omim | https://www.omim.org/entry/613673 | 2019-09-22T15:58:02 | {"doid": ["1338"], "omim": ["613673"], "orphanet": ["293825"], "synonyms": ["CDA type 4", "CDA due to KLF1 mutation", "CDA, TYPE IV", "CDA type IV", "Congenital dyserythropoietic anemia type 4", "CDA IV", "Alternative titles", "CDAN4", "Congenital dyserythropoietic anemia due to KLF1 mutation"]} |
Pierquin et al. (1991) reported the cases of 2 unrelated children with similar clinical features, particularly facial dysmorphism and multiple joint dislocations, suggesting the diagnosis of Larsen syndrome (150250). Both carried an inherited unbalanced translocation resulting in partial trisomy 1q and partial monoso... | LARSEN-LIKE SYNDROME | c1837884 | 2,382 | omim | https://www.omim.org/entry/608545 | 2019-09-22T16:07:40 | {"mesh": ["C563914"], "omim": ["608545"], "orphanet": ["2370"], "synonyms": ["Alternative titles", "LRSL"]} |
Dyschromatosis universalis hereditaria
SpecialtyDermatology
Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper- and hypo- pigmentated macules in a generalized distribution.[1]:856
Both autosomal dominant and recessive inheritance have been reported with the disor... | Dyschromatosis universalis hereditaria | c1306229 | 2,383 | wikipedia | https://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria | 2021-01-18T18:53:31 | {"gard": ["1996"], "mesh": ["C535730"], "umls": ["C1306229"], "orphanet": ["241"], "wikidata": ["Q5319369"]} |
Partial or complete wasting away of a part of the body
For the American thrash metal band, see Atrophy (band).
Atrophy
Mouse (right) with spinal muscular atrophy
SpecialtyPathology
Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can dest... | Atrophy | c0333641 | 2,384 | wikipedia | https://en.wikipedia.org/wiki/Atrophy | 2021-01-18T18:32:03 | {"mesh": ["D001284"], "wikidata": ["Q194520"]} |
Hemoglobin Constant Spring is a variant of hemoglobin in which a mutation in the alpha globin gene produces an alpha globin chain that is abnormally long. It is the most common nondeletional alpha-thalassemia mutation associated with hemoglobin H disease.[1] The quantity of hemoglobin in the cells is low because ... | Hemoglobin Constant Spring | c3891114 | 2,385 | wikipedia | https://en.wikipedia.org/wiki/Hemoglobin_Constant_Spring | 2021-01-18T18:59:43 | {"wikidata": ["Q28209257"]} |
## Summary
### Clinical characteristics.
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and di... | CADASIL | c0751587 | 2,386 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1500/ | 2021-01-18T21:38:49 | {"mesh": ["D046589"], "synonyms": ["Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy"]} |
Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.
*[v... | Virus-associated trichodysplasia spinulosa | c3267126 | 2,387 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228379 | 2021-01-23T17:22:26 | {"umls": ["C3267126"], "synonyms": ["Cyclosporine-induced folliculodystrophy", "Pilomatrix dysplasia", "TS", "Trichodysplasia spinulosa", "VATS"]} |
A number sign (#) is used with this entry because of evidence that inflammatory bowel disease-25 (IBD25) is caused by homozygous mutation in the IL10RB gene (123889) on chromosome 21q22.
Another form of early-onset inflammatory bowel disease, IBD28 (613148), is caused by mutation in the IL10RA gene (146933) encoding... | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE | c2675508 | 2,388 | omim | https://www.omim.org/entry/612567 | 2019-09-22T16:01:12 | {"doid": ["0110909"], "mesh": ["C567251"], "omim": ["612567"], "orphanet": ["238569"], "synonyms": ["Alternative titles", "IL10-related early-onset inflammatory bowel disease", "IL10-related early-onset IBD", "INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE"]} |
Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no lo... | Erythrokeratoderma variabilis progressiva | None | 2,389 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308166 | 2021-01-23T18:37:44 | {"gard": ["10923"], "icd-10": ["Q82.8"]} |
Odynophagia
Pronunciation
* /oʊˌdɪnəˈfeɪdʒ(i)ə/
SpecialtyGastroenterology
Odynophagia is pain when swallowing.[1][2] The pain may be felt in the mouth or throat and can occur with or without difficulty swallowing.[3] The pain may be described as an ache, burning sensation, or occasionally a stabbing ... | Odynophagia | c0221150 | 2,390 | wikipedia | https://en.wikipedia.org/wiki/Odynophagia | 2021-01-18T18:56:36 | {"icd-9": ["787.20"], "icd-10": ["R13"], "wikidata": ["Q2455868"]} |
Autoimmune endocrine disease
Graves' disease
Other namesToxic diffuse goiter,
Flajani–Basedow–Graves disease
The classic finding of exophthalmos and lid retraction in Graves' disease
SpecialtyEndocrinology
SymptomsEnlarged thyroid, irritability, muscle weakness, sleeping problems, fast heartbeat, weigh... | Graves' disease | c0154138 | 2,391 | wikipedia | https://en.wikipedia.org/wiki/Graves%27_disease | 2021-01-18T18:59:04 | {"gard": ["6549"], "umls": ["C0154138"], "wikidata": ["Q16483"]} |
In a brother and sister born to nonconsanguineous parents, Davee et al. (1992) described renal hypoplasia, mullerian duct hypoplasia, and strikingly similar facial features. Facies consisted of frontal bossing, hypertelorism, strabismus, short nose, and mild micrognathia. Both sibs had severe growth and developme... | RENAL AND MULLERIAN DUCT HYPOPLASIA | c1849439 | 2,392 | omim | https://www.omim.org/entry/266810 | 2019-09-22T16:22:47 | {"mesh": ["C564853"], "omim": ["266810"]} |
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps ... | Spinal muscular atrophy with respiratory distress type 2 | None | 2,393 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=404521 | 2021-01-23T16:52:33 | {"icd-10": ["G12.2"], "synonyms": ["Diaphragmatic spinal muscular atrophy type 2", "SMARD2", "Severe infantile axonal neuropathy with respiratory failure type 2", "X-linked spinal muscular atrophy with respiratory distress"]} |
Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. A... | Pitt-Hopkins-like syndrome | c2750246 | 2,394 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221150 | 2021-01-23T17:07:26 | {"gard": ["11967"], "mesh": ["C567657"], "omim": ["610042", "614325"]} |
Vitreous hemorrhage
Slit lamp photograph showing retinal detachment with visible vitreous hemorrhage.
SpecialtyOphthalmology
Vitreous hemorrhage is the extravasation, or leakage, of blood into the areas in and around the vitreous humor of the eye.[1] The vitreous humor is the clear gel that fills the space b... | Vitreous hemorrhage | c0042909 | 2,395 | wikipedia | https://en.wikipedia.org/wiki/Vitreous_hemorrhage | 2021-01-18T18:56:44 | {"mesh": ["D014823"], "umls": ["C0042909"], "icd-9": ["379.23"], "icd-10": ["H43.1"], "wikidata": ["Q1529650"]} |
A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, ... | Squamous cell carcinoma of the larynx | c1168401 | 2,396 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=494550 | 2021-01-23T16:57:17 | {"mesh": ["D000077195"], "omim": ["275355"]} |
## Summary
### Clinical characteristics.
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepko... | FLNB Disorders | None | 2,397 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK2534/ | 2021-01-18T21:27:24 | {"synonyms": []} |
Wandering spleen
Other namesPelvic spleen, displaced spleen, drifting spleen, splenoptosis, floating spleen, splenic ptosis
A picture of an enlarged spleen taken using medical ultrasonography.
SpecialtyAngiology
Wandering spleen (or pelvic spleen) is a rare medical disease caused by the loss or weakening o... | Wandering spleen | c0272414 | 2,398 | wikipedia | https://en.wikipedia.org/wiki/Wandering_spleen | 2021-01-18T18:31:05 | {"gard": ["328"], "mesh": ["D050805"], "icd-9": ["289.59"], "wikidata": ["Q7967227"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to cutaneous malignant melanoma-6 (CMM6) is conferred by variation in the XRCC3 gene (600675) on chromosome 14q32.
Description
Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often i... | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 | c2314896 | 2,399 | omim | https://www.omim.org/entry/613972 | 2019-09-22T15:56:59 | {"omim": ["613972"], "orphanet": ["618"]} |
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