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Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails... | Clouston syndrome | c0162361 | 4,400 | medlineplus | https://medlineplus.gov/genetics/condition/clouston-syndrome/ | 2021-01-27T08:25:53 | {"gard": ["2056"], "mesh": ["D004476"], "omim": ["129500"], "synonyms": []} |
Chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional methods
Microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conve... | Microdeletion syndrome | c1954751 | 4,401 | wikipedia | https://en.wikipedia.org/wiki/Microdeletion_syndrome | 2021-01-18T18:48:29 | {"wikidata": ["Q10329580"]} |
## Clinical Features
Zori et al. (1998) reported a 5-generation family in which multiple males were affected with a relatively mild form of nonprogressive arthrogryposis affecting only the lower limbs. All had involvement of the knee joint, with either a flexion or extension defect, about half had involvement o... | ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED | c1846273 | 4,402 | omim | https://www.omim.org/entry/300158 | 2019-09-22T16:20:51 | {"omim": ["300158"], "synonyms": ["Alternative titles", "ARTHROGRYPOSIS, X-LINKED, TYPE V, FORMERLY"]} |
This section relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Abortion in Algeria" – news · newspapers · books · scholar · JSTOR (June 2019)
Algeria is the most restr... | Abortion in Algeria | None | 4,403 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Algeria | 2021-01-18T18:50:28 | {"wikidata": ["Q19568843"]} |
Haff disease
Other namesHaffkrankheit
Satellite photo of the Vistula Lagoon, formerly known as Frisches Haff. Haff disease was first described in the location of Königsberg.[1]
SpecialtyToxicology
Haff disease is the development of rhabdomyolysis (swelling and breakdown of skeletal muscle, with a risk ... | Haff disease | None | 4,404 | wikipedia | https://en.wikipedia.org/wiki/Haff_disease | 2021-01-18T18:48:58 | {"icd-9": ["985.1"], "wikidata": ["Q2045954"]} |
A number sign (#) is used with this entry because Bruck syndrome-2 (BRKS2) is caused by homozygous mutation in the PLOD2 gene (601865), which encodes telopeptide lysyl hydroxylase, on chromosome 3q24.
For a phenotypic description and a discussion of genetic heterogeneity of Bruck syndrome, see Bruck syndrome-1 (... | BRUCK SYNDROME 2 | c0432253 | 4,405 | omim | https://www.omim.org/entry/609220 | 2019-09-22T16:06:32 | {"doid": ["0060231"], "omim": ["609220"], "orphanet": ["2771"], "synonyms": ["Alternative titles", "OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES"]} |
## Summary
### Clinical characteristics.
21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthe... | 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia | None | 4,406 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1171/ | 2021-01-18T21:45:42 | {"synonyms": ["21-OHD CAH", "Virilizing Adrenal Hyperplasia"]} |
A rare infectious disease caused by the Gram-negative bacillus Burkholderia (pseudomonas) pseudomallei, also called Whitmore bacillus. The infection can be acute, subacute, or chronic and affects the skin, the lungs, or the whole body.
## Epidemiology
The disease is endemic in Southeast Asia and North Australia but... | Melioidosis | c0025229 | 4,407 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=31202 | 2021-01-23T17:44:24 | {"gard": ["9546"], "mesh": ["D008554"], "omim": ["615557"], "umls": ["C0025229"], "icd-10": ["A24.1", "A24.2", "A24.3", "A24.4"]} |
Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).
## Epidemiology
The prevalence is estima... | Kallmann syndrome | c0162809 | 4,408 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=478 | 2021-01-23T18:38:23 | {"gard": ["10771"], "mesh": ["D017436"], "omim": ["147950", "244200", "308700", "610628", "612370", "612702", "614837", "614838", "614840", "614858", "614880", "614897", "615266", "615267", "615269", "615270", "615271", "616030", "618841"], "umls": ["C0162809"], "icd-10": ["E23.0"], "synonyms": ["Congenital hypogonadot... |
Chemotherapy-induced hyperpigmentation
SpecialtyDermatoogy
Chemotherapy-induced hyperpigmentation is caused by many chemotherapeutic agents (especially the antibiotics bleomycin, and daunorubicin) and the alkylating agents (cyclophosphamide and busulfan).[1]:132
## See also[edit]
* Skin lesion
## Referenc... | Chemotherapy-induced hyperpigmentation | None | 4,409 | wikipedia | https://en.wikipedia.org/wiki/Chemotherapy-induced_hyperpigmentation | 2021-01-18T18:42:39 | {"icd-9": ["E933.1"], "icd-10": ["Y43.3", "Y43.1"], "wikidata": ["Q5090628"]} |
A number sign (#) is used with this entry because mucopolysaccharidosis type VII (MPS7) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-glucuronidase (GUSB; 611499) on chromosome 7q11.
Description
Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage dise... | MUCOPOLYSACCHARIDOSIS, TYPE VII | c0085132 | 4,410 | omim | https://www.omim.org/entry/253220 | 2019-09-22T16:24:54 | {"doid": ["12803"], "mesh": ["D016538"], "omim": ["253220"], "icd-10": ["E76.29"], "orphanet": ["584"], "synonyms": ["Alternative titles", "MPS VII", "SLY SYNDROME", "BETA-GLUCURONIDASE DEFICIENCY", "GUSB DEFICIENCY"]} |
## Description
Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530).
Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570.
Inheritance
Curtis et al. (1961) estimated that the risk... | CLEFT PALATE, ISOLATED | c0008925 | 4,411 | omim | https://www.omim.org/entry/119540 | 2019-09-22T16:43:21 | {"doid": ["0110213"], "mesh": ["D002972"], "omim": ["119540"], "orphanet": ["2014"], "synonyms": ["Alternative titles", "CLEFT PALATE"]} |
Presence of four copies of the short arm of chromosome 9
See also: Trisomy 9
Tetrasomy 9p
Other namesIsochromosome 9p
Chromosome 9, the chromosome involved in this condition
Tetrasomy 9p (also known tetrasomy 9p syndrome) is a rare chromosomal disorder characterized by the presence of two extra copies of t... | Tetrasomy 9p | c0795832 | 4,412 | wikipedia | https://en.wikipedia.org/wiki/Tetrasomy_9p | 2021-01-18T18:50:44 | {"gard": ["42"], "mesh": ["C538027"], "umls": ["C0795832"], "orphanet": ["3310"], "wikidata": ["Q7706739"]} |
Immersion foot
Trench foot as seen on an unidentified soldier during World War I
SpecialtyDermatology
Immersion foot syndromes are a class of foot injury caused by water absorption in the outer layer of skin.[1][2] There are different subclass names for this condition based on the temperature of the wate... | Immersion foot syndromes | c0020941 | 4,413 | wikipedia | https://en.wikipedia.org/wiki/Immersion_foot_syndromes | 2021-01-18T18:34:13 | {"mesh": ["D007102"], "icd-10": ["T69.0"], "wikidata": ["Q7846175"]} |
A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.
## Epidemiology
Annual incidence is estimated at between 1/1,000,000 and 1/250,000 depending on the study. Onset may occur at any age and both sexes may be affected.
## Clinical descript... | Idiopathic acute transverse myelitis | None | 4,414 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139423 | 2021-01-23T18:25:23 | {"icd-10": ["G37.3"], "synonyms": ["ATM/TM"]} |
Abortion in Denmark was fully legalized on 1 October 1973,[1] allowing the procedure to be done on-demand if a woman's pregnancy has not exceeded its twelfth week.[1] According to the law of Denmark, the patient must be over the age of 18 to decide on an abortion alone; parental consent is required if she is a minor.... | Abortion in Denmark | None | 4,415 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Denmark | 2021-01-18T18:52:51 | {"wikidata": ["Q4668454"]} |
A number sign (#) is used with this entry because mild mononeuropathy of the median nerve (MNMN) is caused by heterozygous mutation in the SH3TC2 gene (608206).
Charcot-Marie-Tooth disease type 4C (CMT4C; 601596) is a more severe neuropathy caused by homozygous or compound heterozygous mutation in the SH3TC2 gen... | MONONEUROPATHY OF THE MEDIAN NERVE, MILD | c3150596 | 4,416 | omim | https://www.omim.org/entry/613353 | 2019-09-22T15:58:53 | {"omim": ["613353"], "synonyms": ["Alternative titles", "CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO"]} |
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Find sources: "Infantile neuroaxonal dystrophy" – news · newspapers · books · scholar · JSTOR (March 2011) (Learn how and when to remo... | Infantile neuroaxonal dystrophy | c2931102 | 4,417 | wikipedia | https://en.wikipedia.org/wiki/Infantile_neuroaxonal_dystrophy | 2021-01-18T19:10:51 | {"gard": ["3957"], "mesh": ["C536071"], "umls": ["C2931102"], "orphanet": ["2174", "35069"], "wikidata": ["Q6029060"]} |
Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.
## Epidemiology
About 20 cases have been reported to date.
## Clinical description
All of them had hypercalciuria and low-molecular-weight (LMW) proteinuria. In ... | Dent disease type 2 | c1845167 | 4,418 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93623 | 2021-01-23T18:47:41 | {"gard": ["10645"], "mesh": ["C564487"], "omim": ["300555"], "umls": ["C1845167"], "icd-10": ["N25.8"], "synonyms": ["Nephrolithiasis type 2"]} |
Working at Sloan-Kettering, Rettig et al. (1984) mapped the loci that code for 2 cell surface glycoproteins defined by monoclonal antibodies. AbAJ9 defined a glycoprotein of 140,000 MW and AbT87 a glycoprotein of 60,000 MW. Both antibodies reacted with a wide variety of cultured human cell types but not with rodent c... | ANTIGEN DEFINED BY MONOCLONAL ANTIBODY AJ9 | c1834757 | 4,419 | omim | https://www.omim.org/entry/158030 | 2019-09-22T16:38:11 | {"omim": ["158030"], "synonyms": ["Alternative titles", "MSK1"]} |
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-... | Osteopetrosis autosomal dominant type 1 | c1843330 | 4,420 | gard | https://rarediseases.info.nih.gov/diseases/4151/osteopetrosis-autosomal-dominant-type-1 | 2021-01-18T17:58:31 | {"mesh": ["C536056"], "omim": ["607634"], "orphanet": ["2783"], "synonyms": ["OPTA1", "Autosomal dominant osteopetrosis type 1"]} |
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some case... | Gordon syndrome | c0220666 | 4,421 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376 | 2021-01-23T18:56:37 | {"gard": ["2553"], "mesh": ["C537288"], "omim": ["114300"], "umls": ["C0220666"], "icd-10": ["Q68.8"], "synonyms": ["Camptodactyly-cleft palate-clubfoot syndrome", "Distal arthrogryposis type 3", "Distal arthrogryposis type IIA"]} |
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Find sources: "Dacryocystocele" – news · newspapers · books · scholar · JSTOR (May 2016) (Learn how and when to remove this template m... | Dacryocystocele | c0155241 | 4,422 | wikipedia | https://en.wikipedia.org/wiki/Dacryocystocele | 2021-01-18T18:30:50 | {"umls": ["C0155241"], "wikidata": ["Q3011658"]} |
Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.
## Epidemiology
Prevalence is unknown but around 20 families have been identified so far.
## Clinical description
The... | Mucocutaneous venous malformations | c1838437 | 4,423 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2451 | 2021-01-23T17:04:50 | {"mesh": ["C563977"], "omim": ["600195"], "umls": ["C1838437"], "icd-10": ["Q27.8"], "synonyms": ["Cutaneous and mucosal venous malformation", "VMCM"]} |
A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformation... | Isolated congenital radial head dislocation | c0265561 | 4,424 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295032 | 2021-01-23T17:24:25 | {"umls": ["C0265561"], "icd-10": ["Q68.8"], "synonyms": ["Isolated congenital elbow dislocation"]} |
A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well pre... | Combined immunodeficiency due to CD3gamma deficiency | c3810107 | 4,425 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169082 | 2021-01-23T17:18:35 | {"omim": ["615607"], "icd-10": ["D81.2"]} |
Orthner et al. (1973) reported 2 sisters with onset of ALS at 38 and 39 years of age, and death after 14 and 26 months, respectively. Weakness began in the arms and later involved the legs. Bulbar signs and symptoms followed. Autopsy showed marked loss of motor neurons. Polyglucosan bodies were found in perikarya in ... | AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES | c0002736 | 4,426 | omim | https://www.omim.org/entry/205250 | 2019-09-22T16:31:05 | {"mesh": ["D000690"], "omim": ["205250"], "orphanet": ["803"]} |
A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
## Epidemiology
Prevalence is unknown.
## Clinical description
Symptoms generally manifest during childhood (before 10 years old), with myotonia of the facial, limbs and/or intercostal muscles that ... | Acetazolamide-responsive myotonia | c2931826 | 4,427 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99736 | 2021-01-23T18:55:50 | {"mesh": ["C538353"], "omim": ["608390"], "icd-10": ["G71.1"], "synonyms": ["ACZ-responsive congenital myotonia", "ACZ-responsive myotonia", "Acetazolamide-responsive congenital myotonia", "Myotonia-painful contractions syndrome", "Painful congenital myotonia", "Painful myotonia"]} |
## Clinical Features
Der Kaloustian et al. (1992) described a brother and sister born to nonconsanguineous French Canadian parents who presented with the same characteristic facial appearance, unilateral radioulnar synostosis, generalized hypotonia, and developmental retardation. Both had dolichocephaly with macroc... | RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA | c2931776 | 4,428 | omim | https://www.omim.org/entry/266255 | 2019-09-22T16:22:55 | {"mesh": ["C538217"], "omim": ["266255"], "orphanet": ["3270"]} |
Pullorum disease in poultry is caused by the bacterium Salmonella pullorum. The disease affects mainly young chicks, but can also affect older chickens, and other domestic fowl.[1]
The historical name for this disease is bacillary white diarrhea.[2]
Treatment of Pullorum is not recommended, as the goal is the eradi... | Pullorum disease | c0275785 | 4,429 | wikipedia | https://en.wikipedia.org/wiki/Pullorum_disease | 2021-01-18T19:07:33 | {"wikidata": ["Q11276425"]} |
A number sign (#) is used with this entry because of evidence that distal myopathy-5 (MPD5) is caused by compound heterozygous mutation in the ADSSL1 gene (612498) on chromosome 14q32.
Description
Distal myopathy-5 is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset o... | MYOPATHY, DISTAL, 5 | c4310754 | 4,430 | omim | https://www.omim.org/entry/617030 | 2019-09-22T15:47:10 | {"omim": ["617030"], "orphanet": ["482601"], "synonyms": ["ADSSL1-related distal myopathy"]} |
Motor disorder
SpecialtyNeurology
Motor disorders are disorders of the nervous system that cause abnormal and involuntary movements. They can result from damage to the motor system.[1]
Motor disorders are defined in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) – publi... | Motor disorder | c0221163 | 4,431 | wikipedia | https://en.wikipedia.org/wiki/Motor_disorder | 2021-01-18T19:02:28 | {"mesh": ["D000068079"], "icd-10": ["F98.4", "F95.2", "F82"], "wikidata": ["Q16342771"]} |
Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pur... | Spastic paraplegia type 8 | c1863704 | 4,432 | medlineplus | https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8/ | 2021-01-27T08:24:54 | {"gard": ["9591"], "mesh": ["C580458"], "omim": ["603563"], "synonyms": []} |
## Description
Hereditary congenital facial paresis (HCFP) is the isolated dysfunction of the facial nerve (CN VII).
HCFP is considered to be distinct from Moebius syndrome (157900), which shares some of the same clinical features.
### Genetic Heterogeneity of Hereditary Congenital Facial Paresis
One locus for H... | FACIAL PARESIS, HEREDITARY CONGENITAL, 1 | c1832284 | 4,433 | omim | https://www.omim.org/entry/601471 | 2019-09-22T16:14:42 | {"omim": ["601471"], "orphanet": ["306527"], "synonyms": ["Alternative titles", "FACIAL PALSY, CONGENITAL, UNILATERAL OR BILATERAL", "MOEBIUS SYNDROME 2, FORMERLY", "MOBIUS SYNDROME 2, FORMERLY"]} |
Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individ... | Hereditary sensory neuropathy type IA | c0020071 | 4,434 | medlineplus | https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia/ | 2021-01-27T08:24:54 | {"gard": ["6635"], "mesh": ["D009477"], "omim": ["162400"], "synonyms": []} |
An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.
*[v]: View this template
*[t]: Discus... | X-linked neurodegenerative syndrome, Hamel type | None | 4,435 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85336 | 2021-01-23T19:11:13 | {"icd-10": ["G31.8"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-58 (EIEE58) is caused by heterozygous mutation in the NTRK2 gene (600456) on chromosome 9q21.
Description
EIEE58 is a severe neurodevelopmental disorder characterized by onset of refractory seizures in the fi... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | c4693367 | 4,436 | omim | https://www.omim.org/entry/617830 | 2019-09-22T15:44:39 | {"doid": ["0080285"], "omim": ["617830"], "orphanet": ["442835"], "synonyms": ["Undetermined EOEE"]} |
A number sign (#) is used with this entry because of evidence that Laurin-Sandrow syndrome (LSS) is caused by heterozygous mutation in an SHH (600725) regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene (605522).
Clinical Features
Sandrow et al. (1970) described a father and daughter with ulnar and ... | LAURIN-SANDROW SYNDROME | c1851100 | 4,437 | omim | https://www.omim.org/entry/135750 | 2019-09-22T16:41:12 | {"doid": ["0111350"], "mesh": ["C535689"], "omim": ["135750"], "orphanet": ["2378"], "synonyms": ["Alternative titles", "SANDROW SYNDROME", "MIRROR HANDS AND FEET WITH NASAL DEFECTS", "TETRAMELIC MIRROR-IMAGE POLYDACTYLY", "MIRROR-IMAGE POLYDACTYLY", "FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS"]} |
Intestinal metaplasia
Intestinal metaplasia (top middle of image) of the gastric antrum and adenocarcinoma of the stomach (left/centre of image). H&E stain.
Intestinal metaplasia is the transformation (metaplasia) of epithelium (usually of the stomach or the esophagus) into a type of epithelium resembling that... | Intestinal metaplasia | c0334037 | 4,438 | wikipedia | https://en.wikipedia.org/wiki/Intestinal_metaplasia | 2021-01-18T18:47:04 | {"umls": ["C0334037"], "wikidata": ["Q872095"]} |
Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not b... | Autosomal recessive congenital stationary night blindness | c4041558 | 4,439 | medlineplus | https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness/ | 2021-01-27T08:24:34 | {"mesh": ["C536122"], "omim": ["610427", "257270", "613216", "613830", "614565", "615058"], "synonyms": []} |
Excessive fear of hospitals
Nosocomephobia
SpecialtyPsychology
Nosocomephobia (no-so-comb-phobia) is defined as the excessive fear of hospitals.[1][2][3]
Dr. Marc Siegel, a physician and clinical professor at New York University Medical Center says, "It's perfectly understandable why many people feel the way... | Nosocomephobia | None | 4,440 | wikipedia | https://en.wikipedia.org/wiki/Nosocomephobia | 2021-01-18T18:48:01 | {"wikidata": ["Q3344353"]} |
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to ... | Hypokalemic periodic paralysis | c3714580 | 4,441 | medlineplus | https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis/ | 2021-01-27T08:25:16 | {"gard": ["6729"], "omim": ["170400", "613345"], "synonyms": []} |
Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them a... | Pigment-dispersion syndrome | c1271398 | 4,442 | gard | https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome | 2021-01-18T17:58:19 | {"mesh": ["C563184"], "umls": ["C1271398"], "orphanet": ["26823"], "synonyms": []} |
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Find sources: "Soft tissue injury" – news · newspapers · books · scholar · JSTOR (March 2018) (Learn how and when to remove this templ... | Soft tissue injury | c0037578 | 4,443 | wikipedia | https://en.wikipedia.org/wiki/Soft_tissue_injury | 2021-01-18T19:02:51 | {"mesh": ["D017695"], "wikidata": ["Q7554047"]} |
Alcohol consumption in Russia remains among the highest in the world. According to a 2011 report by the World Health Organization, annual per capita consumption of alcohol in Russia was about 15.76 litres, the fourth-highest volume in Europe. It has dropped to less than 10 litres as of 2019.[1] Another dangerous ... | Alcohol consumption in Russia | None | 4,444 | wikipedia | https://en.wikipedia.org/wiki/Alcohol_consumption_in_Russia | 2021-01-18T18:35:37 | {"wikidata": ["Q4385567"]} |
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Find sources: "Childhood rhabdomyosarcoma" – news · newspapers · books · scholar · JSTOR (September 2015) (Learn how and when to r... | Childhood rhabdomyosarcoma | c0220611 | 4,445 | wikipedia | https://en.wikipedia.org/wiki/Childhood_rhabdomyosarcoma | 2021-01-18T18:40:30 | {"wikidata": ["Q17113417"]} |
Waardenburg syndrome type 4, also known as Waardenburg-Shah syndrome, is a genetic condition that can cause hearing loss; changes in coloring (pigmentation) of the hair, skin, and eyes; and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. Waardenburg syndrome ... | Waardenburg syndrome type 4 | c1848519 | 4,446 | gard | https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 | 2021-01-18T17:57:09 | {"mesh": ["C536467"], "omim": ["277580", "613265", "613266"], "umls": ["C1848519"], "orphanet": ["897"], "synonyms": ["Waardenburg-Shah syndrome", "WS4", "Waardenburg-Hirschsprung disease", "Shah-Waardenburg syndrome", "Hirschsprung disease with pigmentary anomaly", "Waardenburg-Hirschsprung syndrome"]} |
A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.
## Epidemiology
Susac syndrome (S... | Susac syndrome | c2717757 | 4,447 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=838 | 2021-01-23T17:20:03 | {"gard": ["7713"], "mesh": ["D055955"], "umls": ["C2717757"], "icd-10": ["I67.7"], "synonyms": ["RED-M", "Retinocochleocerebral vasculopathy", "Retinopathy-encephalopathy-deafness associated with microangiopathy", "Retinopathy-encephalopathy-hearing loss associated with microangiopathy", "SICRET syndrome", "Small infar... |
A number sign (#) is used with this entry because of evidence that nonphotosensitive trichothiodystrophy-7 (TTD7) is caused by homozygous or compound heterozygous mutation in the TARS gene (TARS1; 187790) on chromosome 5p13.
Description
Nonphotosensitive trichothiodystrophy-7 (TTD7) is an autosomal recessive disord... | TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE | None | 4,448 | omim | https://www.omim.org/entry/618546 | 2019-09-22T15:41:27 | {"omim": ["618546"]} |
The English bulldog, a typically brachycephalic dog breed, may suffer from brachycephalic syndrome.
Brachycephalic syndrome is a pathological condition affecting short nosed dogs and cats which can lead to severe respiratory distress. There are four different anatomical abnormalities that contribute to the disease, ... | Brachycephalic airway obstructive syndrome | None | 4,449 | wikipedia | https://en.wikipedia.org/wiki/Brachycephalic_airway_obstructive_syndrome | 2021-01-18T18:31:31 | {"wikidata": ["Q4953365"]} |
A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral bl... | Classic hairy cell leukemia | c0023443 | 4,450 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=58017 | 2021-01-23T18:30:33 | {"gard": ["6560"], "mesh": ["D007943"], "umls": ["C0023443"], "icd-10": ["C91.4"], "synonyms": ["HCL-C", "Leukemic reticuloendotheliosis"]} |
Any of the forms of odontogenic neoplasm
Odontogenic tumor
SpecialtyOncology
An odontogenic tumor is a neoplasm of the cells or tissues that initiate odontogenic processes.
Examples include:
* Adenomatoid odontogenic tumor
* Ameloblastic fibroma
* Ameloblastoma, a type of odontogenic tumor involving a... | Odontogenic tumor | c0028880 | 4,451 | wikipedia | https://en.wikipedia.org/wiki/Odontogenic_tumor | 2021-01-18T19:01:11 | {"mesh": ["D009808"], "umls": ["C0028880"], "orphanet": ["314425"], "wikidata": ["Q7077953"]} |
Congenital malaria is an extremely rare condition which occurs due to transplacental transmission of maternal infection.[1]
Clinical features include fever, irritability, feeding problems, anemia, hepatosplenomegaly and jaundice. Clinical features commence only after three weeks due to the protective effect of t... | Congenital malaria | c0276832 | 4,452 | wikipedia | https://en.wikipedia.org/wiki/Congenital_malaria | 2021-01-18T18:41:45 | {"icd-10": ["P37.4", "P37.3"], "wikidata": ["Q25324142"]} |
A rare inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous and soft tissue bleeding symptoms.
## Epidemiology
Factor II deficiency is the most rare coagulation factor deficiency. Prevalence of homozygous forms is estimated at 1/2,000,000. Both sexes... | Congenital factor II deficiency | c0020640 | 4,453 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325 | 2021-01-23T17:41:16 | {"mesh": ["D007020"], "omim": ["613679"], "umls": ["C0020640", "C0272317", "C3203356"], "icd-10": ["D68.2"], "synonyms": ["Dysprothrombinemia", "Hypoprothrombinemia", "Prothrombin deficiency"]} |
Hemoglobin C
SpecialtyHematology
Hemoglobin c (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th position of the β-globin chain is replaced with a lysine residue due to a point mutation in the HBB gene.[1] It produces sickle cell trait but not the disease, as it causes onl... | Hemoglobin C | c0019021 | 4,454 | wikipedia | https://en.wikipedia.org/wiki/Hemoglobin_C | 2021-01-18T19:06:07 | {"gard": ["2640"], "mesh": ["D006445"], "umls": ["C0019021"], "icd-9": ["282.7"], "orphanet": ["2132"], "wikidata": ["Q409030"]} |
Involuntary twitches
Hypnic jerk
Other namesHypnagogic jerk, sleep start, sleep twitch, myoclonic jerk, night start
SpecialtySleep medicine
Causescaffeine, dreams, anxiety
A hypnic jerk, hypnagogic jerk, sleep start, sleep twitch, myoclonic jerk, or night start is a brief and sudden involuntary contra... | Hypnic jerk | c2732862 | 4,455 | wikipedia | https://en.wikipedia.org/wiki/Hypnic_jerk | 2021-01-18T18:41:52 | {"wikidata": ["Q1308944"]} |
A number sign (#) is used with this entry because of evidence that myoclonic dystonia-26 (DYT26) is caused by heterozygous mutation in the KCTD17 gene (616386) on chromosome 22q12.
Description
Myoclonic dystonia-26 is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting ... | DYSTONIA 26, MYOCLONIC | c1834570 | 4,456 | omim | https://www.omim.org/entry/616398 | 2019-09-22T15:49:10 | {"doid": ["0090036"], "mesh": ["C536096"], "omim": ["616398"], "orphanet": ["36899"]} |
## Description
Reticular pigmentary retinal dystrophy is a form of patterned dystrophy (see MDPT1, 169150) characterized by a reticular pattern of pigmentation that likely appears in infancy and may be fully developed at age 15 years. Indirect funduscopy has shown that the condition is bilateral and symmetric and t... | RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE | c1867332 | 4,457 | omim | https://www.omim.org/entry/267800 | 2019-09-22T16:22:42 | {"mesh": ["C566721"], "omim": ["267800"], "orphanet": ["99002"]} |
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: "Posterior circulation infarct" – news · newspapers · books · scholar · JSTOR (May 2008) (Learn how and when to remove t... | Posterior circulation infarct | c0393956 | 4,458 | wikipedia | https://en.wikipedia.org/wiki/Posterior_circulation_infarct | 2021-01-18T19:00:49 | {"umls": ["C0393956"], "icd-9": ["433.2", "433.0"], "wikidata": ["Q9008403"]} |
Pressure urticaria
Other namesDelayed pressure urticaria
SpecialtyDermatology
Pressure urticaria is a physical urticaria caused by pressure applied to the skin, and is characterized by the development of swelling and pain that usually occurs 3 to 12 hours after local pressure has been applied.[1]:155[2]
... | Pressure urticaria | c1270880 | 4,459 | wikipedia | https://en.wikipedia.org/wiki/Pressure_urticaria | 2021-01-18T18:57:35 | {"umls": ["C1270880"], "icd-10": ["L50.4"], "wikidata": ["Q7241740"]} |
A number sign (#) is used with this entry because of evidence that fetal encasement syndrome, an autosomal recessive condition, is caused by homozygous mutation in the CHUK (600664) gene on chromosome 10q24.
Clinical Features
Lahtela et al. (2010) described a Finnish family in which 5 pregnancies occurred. The ... | COCOON SYNDROME | c3150891 | 4,460 | omim | https://www.omim.org/entry/613630 | 2019-09-22T15:58:05 | {"doid": ["0060647"], "omim": ["613630"], "orphanet": ["465824"], "synonyms": ["Alternative titles", "FETAL ENCASEMENT SYNDROME"]} |
Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.
## Epidemiology
To date, more than 40 c... | Trisomy 5p | c0812464 | 4,461 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1742 | 2021-01-23T17:45:37 | {"gard": ["6093"], "icd-10": ["Q92.2"], "synonyms": ["Duplication 5p", "Duplication of the short arm of chromosome 5", "Trisomy of the short arm of chromosome 5"]} |
Acute myeloblastic leukemia without maturation
Myeloblast
SpecialtyHematology
Acute myeloblastic leukemia without maturation is a quickly progressing disease in which too many immature white blood cells (not lymphocytes) are found in the blood and bone marrow.[1]
It is classified as "M1" in the FAB classifi... | Acute myeloblastic leukemia without maturation | c0026998 | 4,462 | wikipedia | https://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_without_maturation | 2021-01-18T18:47:43 | {"gard": ["526"], "mesh": ["D015470"], "umls": ["C0026998"], "orphanet": ["98833"], "wikidata": ["Q4677942"]} |
A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Caym... | Cerebellar ataxia, Cayman type | c1832585 | 4,463 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94122 | 2021-01-23T18:43:37 | {"mesh": ["C563363"], "omim": ["601238"], "umls": ["C1832585"], "icd-10": ["G11.0"], "synonyms": ["Cayman ataxia"]} |
A number sign (#) is used with this entry because of evidence that coenzyme Q10 deficiency-8 (COQ10D8) is caused by homozygous mutation in the COQ7 gene (601683) on chromosome 16p12. One such patient has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme... | COENZYME Q10 DEFICIENCY, PRIMARY, 8 | c4225226 | 4,464 | omim | https://www.omim.org/entry/616733 | 2019-09-22T15:48:05 | {"omim": ["616733"], "genereviews": ["NBK410087"]} |
Glass delusion is an external manifestation of a psychiatric disorder recorded in Europe mainly in the late Middle Ages and early modern period (15th to 17th centuries).[1] People feared that they were made of glass "and therefore likely to shatter into pieces". One famous early sufferer was King Charles VI of France... | Glass delusion | None | 4,465 | wikipedia | https://en.wikipedia.org/wiki/Glass_delusion | 2021-01-18T18:59:59 | {"wikidata": ["Q5567102"]} |
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Find sources: "Collagenopathy, types II and XI" – news · ... | Collagenopathy, types II and XI | None | 4,466 | wikipedia | https://en.wikipedia.org/wiki/Collagenopathy,_types_II_and_XI | 2021-01-18T19:08:37 | {"wikidata": ["Q5145912"]} |
A rare disorder of the anterior segment of the eye characterized by ocular infection by human-pathogenic fungi, most commonly Aspergillus, Candida, or Fusarium species, which gain access into the corneal stroma through a defect in the corneal epithelium. Risk factors include trauma, ocular surface disease, contac... | Fungal keratitis | c1262117 | 4,467 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=519930 | 2021-01-23T18:34:37 | {"synonyms": ["Keratomycosis", "Mycotic keratitis"]} |
A number sign (#) is used with this entry because of evidence that nemaline myopathy-2 (NEM2) is caused by homozygous or compound heterozygous mutation in the nebulin gene (NEB; 161650) on chromosome 2q23.
Description
Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severi... | NEMALINE MYOPATHY 2 | c0546125 | 4,468 | omim | https://www.omim.org/entry/256030 | 2019-09-22T16:24:27 | {"doid": ["0110928"], "mesh": ["D017696"], "omim": ["256030"], "orphanet": ["171439", "171430", "171436", "171433"], "genereviews": ["NBK1288"]} |
Duroziez's disease
SpecialtyCardiology
Duroziez's disease is a congenital variant of mitral stenosis. It was described in 1877 by Paul Louis Duroziez.[1]
## References[edit]
1. ^ Duroziez' disease at Who Named It?
* v
* t
* e
Congenital heart defects
Heart septal defect
Aortopulmonary sep... | Duroziez's disease | c0158618 | 4,469 | wikipedia | https://en.wikipedia.org/wiki/Duroziez%27s_disease | 2021-01-18T18:38:11 | {"wikidata": ["Q5316720"]} |
A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.
## Epidemiology
Worldwide, the prevalence is 1/7,500 to 1/35,800. The annual incidence is 1/91,... | Acromegaly | c0001206 | 4,470 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=963 | 2021-01-23T18:45:56 | {"gard": ["5725"], "mesh": ["D000172"], "omim": ["102200", "300943"], "umls": ["C0001206"], "icd-10": ["E22.0"]} |
Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The in... | Blastomycosis | c0005716 | 4,471 | gard | https://rarediseases.info.nih.gov/diseases/5931/blastomycosis | 2021-01-18T18:01:46 | {"mesh": ["D001759"], "synonyms": ["North American blastomycosis", "Gilchrist's disease"]} |
Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.
## Epidemiology
LAD-I affects 1 individual per million.
## Clinical description
Usually the first signs occur in infancy or early childhood. Patients present recurrent, ... | Leukocyte adhesion deficiency type I | c0398738 | 4,472 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99842 | 2021-01-23T18:24:47 | {"gard": ["6893"], "mesh": ["C535887"], "omim": ["116920"], "umls": ["C0398738"], "icd-10": ["D84.8"], "synonyms": ["LAD-I"]} |
Clitoridectomy
Other namesClitorectomy
Specialtygynecology
[edit on Wikidata]
Clitoridectomy or clitorectomy is the surgical removal, reduction, or partial removal of the clitoris.[1] It is rarely used as a therapeutic medical procedure, such as when cancer has developed in or spread to the clitoris. It... | Clitoridectomy | None | 4,473 | wikipedia | https://en.wikipedia.org/wiki/Clitoridectomy | 2021-01-18T18:31:30 | {"wikidata": ["Q1707435"]} |
Chiba and Miura (1977, 1979) described a mother and son with hypoplastic thumbs and alopecia. Short stature was marked in the child and moderate in the mother; both were reported to be mentally retarded. Winter et al. (1988) reported a similar condition in 4 generations of a family. The affected members studied w... | THUMB DEFORMITY AND ALOPECIA | c2931366 | 4,474 | omim | https://www.omim.org/entry/188150 | 2019-09-22T16:32:44 | {"mesh": ["C536904"], "omim": ["188150"], "orphanet": ["2251"]} |
## Summary
The purpose of this overview is to increase the awareness of clinicians regarding the genetics of Parkinson disease and related genetic counseling issues.
The following are the goals of this overview:
### Goal 1.
Describe the clinical characteristics of Parkinson disease.
### Goal 2.
Review the cause... | Parkinson Disease Overview | None | 4,475 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1223/ | 2021-01-18T21:04:45 | {"synonyms": []} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (September 2015)
Benign nephrosclerosis refers to the renal changes most commonly occurring in association with long-standing hypertension. It is termed b... | Benign nephrosclerosis | c3273254 | 4,476 | wikipedia | https://en.wikipedia.org/wiki/Benign_nephrosclerosis | 2021-01-18T18:41:35 | {"wikidata": ["Q4887969"]} |
Clinical variety of lepromatous leprosy
The diffuse leprosy of Lucio and Latapí, also known as diffuse lepromatous leprosy or "pretty leprosy" is a clinical variety of lepromatous leprosy. It was first described by Lucio and Alvarado in 1852 and re-identified by Latapí in 1936. It is common in Mexico (23% leprosy ca... | Diffuse leprosy of Lucio and Latapí | None | 4,477 | wikipedia | https://en.wikipedia.org/wiki/Diffuse_leprosy_of_Lucio_and_Latap%C3%AD | 2021-01-18T18:43:56 | {"wikidata": ["Q5275417"]} |
Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
## Epidemiology
The disease has been described in five patients.
## Etiology
Deletion 6q16 syndrome is due to an interstitial deletio... | 6q16 microdeletion syndrome | None | 4,478 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171829 | 2021-01-23T19:06:54 | {"icd-10": ["Q93.5"], "synonyms": ["Del(6)(q16)", "Monosomy 6q16", "Prader-Willi-like syndrome due to microdeletion 6q16"]} |
1q21.1 deletion syndrome
Other names1q21.1 (recurrent) microdeletion
SpecialtyMedical genetics
1q21.1 deletion syndrome is a rare aberration of chromosome 1. A human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 deletion syndrome, one chromosome of the pair is not complete, beca... | 1q21.1 deletion syndrome | c2675897 | 4,479 | wikipedia | https://en.wikipedia.org/wiki/1q21.1_deletion_syndrome | 2021-01-18T18:55:24 | {"gard": ["10813"], "mesh": ["C567291"], "umls": ["C2675897"], "orphanet": ["250989"], "wikidata": ["Q209049"]} |
Lysosomal storage disease
Micrograph of Gaucher disease, with cells that have the characteristic crumpled tissue paper-like cytoplasm. H&E stain.
SpecialtyEndocrinology
Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of about 50 rare inherited metabolic disorders that result from defects i... | Lysosomal storage disease | c0085078 | 4,480 | wikipedia | https://en.wikipedia.org/wiki/Lysosomal_storage_disease | 2021-01-18T18:48:20 | {"mesh": ["D016464"], "umls": ["C0085078"], "icd-10": ["E75", "E77"], "orphanet": ["68366"], "wikidata": ["Q675010"]} |
A number sign (#) is used with this entry because of evidence that atrioventricular septal defect-4 (AVSD4) is caused by heterozygous mutation in the GATA4 gene (600576) on chromosome 8p23.
Description
The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations character... | ATRIOVENTRICULAR SEPTAL DEFECT 4 | c1389018 | 4,481 | omim | https://www.omim.org/entry/614430 | 2019-09-22T15:55:19 | {"doid": ["0050651"], "mesh": ["C562831"], "omim": ["614430"], "orphanet": ["98722"]} |
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
## Epidemiology
Epidemiological data for the prevalence of SHS are not available, but... | Sheldon-Hall syndrome | c1834523 | 4,482 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1147 | 2021-01-23T18:19:42 | {"mesh": ["C538400"], "omim": ["601680", "616266"], "umls": ["C1834523"], "icd-10": ["Q68.8"], "synonyms": ["Distal arthrogryposis type 2B", "Freeman-Sheldon syndrome variant"]} |
Spinal shock was first explored by Whytt in 1750 as a loss of sensation accompanied by motor paralysis with initial loss but gradual recovery of reflexes, following a spinal cord injury (SCI) – most often a complete transection. Reflexes in the spinal cord below the level of injury are depressed (hyporeflexia) or abs... | Spinal shock | c0597503 | 4,483 | wikipedia | https://en.wikipedia.org/wiki/Spinal_shock | 2021-01-18T18:31:31 | {"gard": ["7680"], "umls": ["C0597503", "CL495135"], "wikidata": ["Q2298453"]} |
A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
## Epidemiology
Disseminated superficial actinic porokeratosis (DS... | Disseminated superficial actinic porokeratosis | c0265970 | 4,484 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79152 | 2021-01-23T18:20:00 | {"gard": ["10983"], "mesh": ["D017499"], "omim": ["175900", "607728", "612293", "612353", "614714", "616063", "616631"], "umls": ["C0265970"], "icd-10": ["Q82.8"]} |
Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this templa... | Hereditary persistence of alpha-fetoprotein | c1863080 | 4,485 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168615 | 2021-01-23T17:52:43 | {"omim": ["615970"]} |
Galton et al. (1977) reported clinical, metabolic and autopsy findings in a 6-year-old microcephalic child with the paradoxical combination of triglyceride storage in peripheral adipose tissue and gross emaciation. The authors found no increase in glycerol or cyclic AMP in peripheral adipose tissue on incubation with... | TRIGLYCERIDE STORAGE DISEASE, TYPE I | c1860821 | 4,486 | omim | https://www.omim.org/entry/190420 | 2019-09-22T16:32:24 | {"mesh": ["C566031"], "omim": ["190420"]} |
Summitt (1969) described 2 brothers with craniosynostosis and syndactyly which was severe in one and mild in the other. Both were obese. Intelligence was normal. The skull was towered, as in Carpenter syndrome (201000). The parents were first cousins. Obesity was the presenting complaint, at age 6.5 years, in the spo... | SUMMITT SYNDROME | c1802405 | 4,487 | omim | https://www.omim.org/entry/272350 | 2019-09-22T16:21:58 | {"mesh": ["C538142"], "omim": ["272350"], "orphanet": ["3210"]} |
Inflammation of hair follicles due to fungal infection
Not to be confused with Majocchi's disease.
Majocchi's granuloma
SpecialtyDermatology
Majocchi's granuloma is a skin condition characterized by deep, pustular plaques, and is a form of tinea corporis. It is a localized form of fungal folliculitis. Lesion... | Fungal folliculitis | c1279621 | 4,488 | wikipedia | https://en.wikipedia.org/wiki/Fungal_folliculitis | 2021-01-18T19:00:20 | {"umls": ["C1279621"], "wikidata": ["Q5509166"]} |
Schmorl's nodes
Other namesIntraosseous disk herniation, Schmorl's nodules
X-ray image of Schmorl's nodes in the lumbar spine
SpecialtyRheumatology
Schmorl's nodes are protrusions of the nucleus pulposus of the intervertebral disc through the vertebral body endplate and into the adjacent vertebra.[1]
... | Schmorl's nodes | c0410632 | 4,489 | wikipedia | https://en.wikipedia.org/wiki/Schmorl%27s_nodes | 2021-01-18T18:46:36 | {"icd-9": ["722.30"], "icd-10": ["M51.4"], "wikidata": ["Q1524867"]} |
Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recess... | Infant acute respiratory distress syndrome | c0035220 | 4,490 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70587 | 2021-01-23T18:18:40 | {"mesh": ["D012127"], "omim": ["267450"], "umls": ["C0020192", "C0035220", "C0852283"], "icd-10": ["P22.0"], "synonyms": ["Hyaline membrane disease", "Infant ARDS", "Infant respiratory distress syndrome", "Neonatal respiratory distress syndrome"]} |
Alternating hemiplegia of childhood
Other namesAHC
SpecialtyNeurology
Alternating hemiplegia of childhood is an ultra-rare neurological disorder named for the transient episodes, often referred to as "attacks", of hemiplegia from which those with the disorder suffer. It typically presents before the age of 1... | Alternating hemiplegia of childhood | c3549447 | 4,491 | wikipedia | https://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood | 2021-01-18T18:43:11 | {"gard": ["11"], "mesh": ["C536589"], "umls": ["C3549447"], "orphanet": ["2131"], "wikidata": ["Q2632848"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
Kimura et al. (2008) performed a genomewide association study with 23,465 microsatellite markers, applying selective genotyping to extremely tall and extremely short individuals from the Khalkh... | STATURE QUANTITATIVE TRAIT LOCUS 15 | c2675490 | 4,492 | omim | https://www.omim.org/entry/612578 | 2019-09-22T16:01:14 | {"omim": ["612578"]} |
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
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*[c.]... | Caudal appendage-deafness syndrome | c2931593 | 4,493 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1123 | 2021-01-23T18:43:34 | {"gard": ["1163"], "mesh": ["C537713"], "umls": ["C2931593"], "synonyms": ["Caudal appendage-hearing loss syndrome", "Lynch-Lee-Murday syndrome"]} |
Neuroendocrine tumor
Micrograph of a neuroendocrine tumor. H&E stain
SpecialtyEndocrine oncology
Neuroendocrine tumors (NETs) are neoplasms that arise from cells of the endocrine (hormonal) and nervous systems. They most commonly occur in the intestine, where they are often called carcinoid tumors, but they ... | Neuroendocrine tumor | c0206754 | 4,494 | wikipedia | https://en.wikipedia.org/wiki/Neuroendocrine_tumor | 2021-01-18T18:58:08 | {"gard": ["13445"], "mesh": ["D018358"], "umls": ["C0206754"], "wikidata": ["Q1981276"]} |
## Description
HSR1 was originally identified as a noncoding eukaryotic RNA involved in activation of heat shock factor-1 (HSF1; 140580) (Shamovsky et al., 2006). However, more recent evidence suggests a bacterial origin for HSR1 (Kim et al., 2010).
Cloning and Expression
Shamovsky et al. (2006) identified HS... | HEAT-SHOCK RNA 1 | c1857801 | 4,495 | omim | https://www.omim.org/entry/610157 | 2019-09-22T16:05:00 | {"omim": ["610157"], "synonyms": ["Alternative titles", "HSR1"]} |
CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.
People with CLN4 disease o... | CLN4 disease | c1834207 | 4,496 | medlineplus | https://medlineplus.gov/genetics/condition/cln4-disease/ | 2021-01-27T08:24:55 | {"gard": ["10973"], "mesh": ["D009472"], "omim": ["162350"], "synonyms": []} |
A number sign (#) is used with this entry because CK syndrome is caused by hemizygous mutation in the NSDHL gene (300275) on chromosome Xq28.
Description
CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations,... | CK SYNDROME | c3151781 | 4,497 | omim | https://www.omim.org/entry/300831 | 2019-09-22T16:19:32 | {"omim": ["300831"], "orphanet": ["251383"], "synonyms": ["Alternative titles", "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome", "MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION"], "genereviews": ["NBK51754"]} |
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive t... | X-linked intellectual disability-retinitis pigmentosa syndrome | c0795873 | 4,498 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85332 | 2021-01-23T17:56:10 | {"gard": ["8360"], "mesh": ["C537046"], "omim": ["300578"], "umls": ["C0795873"], "icd-10": ["H35.5"], "synonyms": ["Aldred syndrome", "Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion", "Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)", "Retinitis pigmentosa and intell... |
Epithelial basement membrane corneal dystrophy (EBMD), also called map-dot-fingerprint dystrophy, is an eye condition that affects the cornea. The epithelium is the cornea’s outermost layer, and the basement membrane is the layer that the epithelium attaches to. EBMD occurs when the epithelial basement membrane devel... | Epithelial basement membrane corneal dystrophy | c0521723 | 4,499 | gard | https://rarediseases.info.nih.gov/diseases/9732/epithelial-basement-membrane-corneal-dystrophy | 2021-01-18T18:00:40 | {"mesh": ["C535477"], "omim": ["121820"], "synonyms": ["Corneal dystrophy, anterior basement membrane", "Microcystic dystrophy of the cornea", "Cogan corneal dystrophy", "Map-dot-fingerprint dystrophy of cornea"]} |
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