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Corn allergy, also called maize allergy, is a very rare food allergy.[1] People with a true IgE-mediated allergy to corn develop symptoms such as swelling or hives when they eat corn or foods that contain corn.
Corn allergy can be a difficult allergy to manage, due to many food and non-food products that contain... | Corn allergy | None | 5,400 | wikipedia | https://en.wikipedia.org/wiki/Corn_allergy | 2021-01-18T18:29:02 | {"wikidata": ["Q5171043"]} |
Significant economic disease of cattle caused by two species of Pestivirus
Bovine viral diarrhea
Immunofluorescence image of BVDV (CP7 type). Nuclei are stained blue with DAPI. The replication complexes of the viruses are marked red by NS3 protein binding antibodies
Scientific classification
(unranked): V... | Bovine viral diarrhea | c0006075 | 5,401 | wikipedia | https://en.wikipedia.org/wiki/Bovine_viral_diarrhea | 2021-01-18T19:04:14 | {"mesh": ["D001912"], "wikidata": ["Q797128"]} |
Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.
## Clinical description
It occurs more commonly in males than females. Some patients have verti... | Congenital vertical talus | c0240912 | 5,402 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178382 | 2021-01-23T17:08:57 | {"gard": ["5488"], "mesh": ["D005413"], "omim": ["192950"], "umls": ["C0240912"], "icd-10": ["Q66.8"], "synonyms": ["Congenital convex foot", "Congenital convex pes valgus", "Congenital rocker-bottom foot"]} |
Doping investigation
Part of a series on
Doping in sport
Substances and types
* Anabolic steroids
* Blood doping
* Gene doping
* Cannabinoids
* Diuretics
* Painkillers
* Sedatives
* Stem cell doping
* Stimulants
* Beta2-adrenergic agonist
* Clenbuterol
* Ephedrine
* EPO
* Hu... | Operation Aderlass | None | 5,403 | wikipedia | https://en.wikipedia.org/wiki/Operation_Aderlass | 2021-01-18T18:54:57 | {"wikidata": ["Q61977709"]} |
Tolmie et al. (1988) described a syndrome of palmoplantar keratoderma, dystrophy of the fingernails, and hereditary motor and sensory neuropathy in 10 members of 4 generations. The nail dystrophy affected both the toenails and the fingernails; it was present at birth or developed during early childhood. Palmoplantar ... | KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY | c1835671 | 5,404 | omim | https://www.omim.org/entry/148360 | 2019-09-22T16:39:17 | {"mesh": ["C536153"], "omim": ["148360"], "orphanet": ["538574", "2201"], "synonyms": ["Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome", "Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE WITH PALMOPLANTAR KERATODERMA AND NAIL DYSTROPHY", "AXONAL NEUROPATHY WITH PALMOPLANTAR KERATODERMA"]} |
For works entitled "Spring Fever", see Spring Fever (disambiguation).
Spring fever is any of a number of mood, physical, or behavioral changes, which may be experienced coinciding with the arrival of spring, particularly restlessness, laziness, and even amorousness.[1]
## Overview[edit]
The term spring fever is an... | Spring fever | c0034152 | 5,405 | wikipedia | https://en.wikipedia.org/wiki/Spring_fever | 2021-01-18T18:49:42 | {"mesh": ["D011695"], "wikidata": ["Q30314009"]} |
Serious trauma to the cranium
See also: Traumatic brain injury
"Head trauma" redirects here. It is not to be confused with Mental trauma or Brain trauma.
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be cha... | Head injury | c0018674 | 5,406 | wikipedia | https://en.wikipedia.org/wiki/Head_injury | 2021-01-18T18:47:57 | {"mesh": ["D006259"], "icd-9": ["800", "879"], "icd-10": ["S09"], "wikidata": ["Q2920572"]} |
Costeff syndrome is an inherited condition characterized by vision loss, delayed development, and movement problems. Vision loss is primarily caused by degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhoo... | Costeff syndrome | c0574084 | 5,407 | medlineplus | https://medlineplus.gov/genetics/condition/costeff-syndrome/ | 2021-01-27T08:25:30 | {"gard": ["5663"], "mesh": ["C535311"], "omim": ["258501"], "synonyms": []} |
Urethral hypermobility is a condition of excessive movement of the female urethra due to a weakened urogenital diaphragm. It describes the instability of the urethra in relation to the pelvic floor muscles. A weakened pelvic floor muscle fails to adequately close the urethra and hence can cause stress urinary inconti... | Urethral hypermobility | c0375380 | 5,408 | wikipedia | https://en.wikipedia.org/wiki/Urethral_hypermobility | 2021-01-18T19:04:49 | {"umls": ["C0375380"], "wikidata": ["Q25326631"]} |
A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative mac... | Short stature-advanced bone age-early-onset osteoarthritis syndrome | c3665488 | 5,409 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435804 | 2021-01-23T17:07:22 | {"mesh": ["C580095"], "omim": ["165800"], "icd-10": ["M89.8"]} |
Cantu et al. (1974) described a kindred in which 3 brothers and 3 of their maternal uncles had generalized keratosis follicularis, severe growth retardation, and cerebral atrophy. Hair, eyebrows and eyelashes were almost completely absent. Death had occurred at a young age in 2 of the uncles. Microcephaly was present... | KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY | c1839910 | 5,410 | omim | https://www.omim.org/entry/308830 | 2019-09-22T16:17:57 | {"mesh": ["C536158"], "omim": ["308830"], "orphanet": ["2339"]} |
Okamoto et al. (1997) described an apparently new premature aging syndrome in a 15-year-old girl with severe growth and developmental abnormalities. Features also included osteosarcoma, cataracts, diabetes mellitus, osteoporosis, and erythroid macrocytosis. A photograph showed a round face, microcephaly, poor hair gr... | PREMATURE AGING SYNDROME, OKAMOTO TYPE | c1866183 | 5,411 | omim | https://www.omim.org/entry/601811 | 2019-09-22T16:14:24 | {"mesh": ["C566621"], "omim": ["601811"]} |
A number sign (#) is used with this entry because of evidence that intellectual developmental disorder with short stature, facial anomalies, and speech defects (IDDSFAS) is caused by homozygous mutation in the FBXL3 gene (605653) on chromosome 13q22.
Clinical Features
Megarbane and Cormier-Daire (2001) described 2 ... | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS | c1853507 | 5,412 | omim | https://www.omim.org/entry/606220 | 2019-09-22T16:10:34 | {"mesh": ["C565248"], "omim": ["606220"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS"]} |
Heterotaxy is a condition characterized by internal organs that are not arranged as would be expected in the chest and abdomen. Organs are expected to be in a particular orientation inside of the body, known as situs solitus. Heterotaxy occurs when the organs are not in this typical orientation, but are instead in di... | Heterotaxy | c0266642 | 5,413 | gard | https://rarediseases.info.nih.gov/diseases/10875/heterotaxy | 2021-01-18T18:00:00 | {"mesh": ["D059446"], "synonyms": ["Heterotaxia", "Heterotaxy syndrome", "Visceral heterotaxy", "Lateralization defect", "Situs ambiguous", "Situs ambiguus"]} |
Rare X-linked genetic condition
X-linked reticulate pigmentary disorder
Other namesFamilial cutaneous amyloidosis,[1] Partington amyloidosis,[1] Partington cutaneous amyloidosis,[1] Partington syndrome type II,[1] reticulate pigmentary disorder,[1] X-linked reticulate pigmentary disorder with systemic manifestatio... | X-linked reticulate pigmentary disorder | c1845050 | 5,414 | wikipedia | https://en.wikipedia.org/wiki/X-linked_reticulate_pigmentary_disorder | 2021-01-18T18:56:10 | {"mesh": ["C564461"], "umls": ["C1845050"], "orphanet": ["85453"], "wikidata": ["Q3710164"]} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND) is caused by homozygous or compound heterozygous mutation in the SPTBN4 gene (606214) on chromosome 19q13.
Clinical Features
Knierim et al. (2017) reported a boy, born of ... | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS | c4479603 | 5,415 | omim | https://www.omim.org/entry/617519 | 2019-09-22T15:45:45 | {"omim": ["617519"], "synonyms": ["Alternative titles", "MYOPATHY, CONGENITAL, WITH NEUROPATHY AND DEAFNESS"]} |
Rare genetic disorder causing lack of fingerprints
Adermatoglyphia
Other namesImmigration delay disease
Adermatoglyphia is inherited in an autosomal dominant manner
Adermatoglyphia is an extremely rare genetic disorder that prevents the development of fingerprints. Five extended families worldwide are known... | Adermatoglyphia | c1852150 | 5,416 | wikipedia | https://en.wikipedia.org/wiki/Adermatoglyphia | 2021-01-18T18:31:33 | {"gard": ["12550"], "mesh": ["C565010"], "umls": ["C1852150", "C1851080"], "icd-10": ["Q82.8"], "orphanet": ["289465"], "wikidata": ["Q356410"]} |
## Summary
### Clinical characteristics.
WT1 disorder is characterized by congenital/infantile- or childhood-onset of a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the e... | WT1 Disorder | None | 5,417 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK556455/ | 2021-01-18T20:49:49 | {"synonyms": []} |
A number sign (#) is used with this entry because desmosterolosis is caused by homozygous or compound heterozygous mutation in the DHCR24 gene (606418) on chromosome 1p32.
Description
Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cho... | DESMOSTEROLOSIS | c1865596 | 5,418 | omim | https://www.omim.org/entry/602398 | 2019-09-22T16:13:49 | {"mesh": ["C566555"], "omim": ["602398"], "orphanet": ["35107"]} |
## Clinical Features
Prakash et al. (2003) described an Asian Indian family with autosomal dominant progressive nephropathy, with features of both focal segmental glomerulosclerosis (see 603278) and Alport syndrome (104200). Seven members of the family were affected, and there was male-to-male transmission. Two mem... | NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS | c1836119 | 5,419 | omim | https://www.omim.org/entry/609469 | 2019-09-22T16:06:02 | {"mesh": ["C563713"], "omim": ["609469"], "synonyms": ["Alternative titles", "NEDE", "ALPORT/FOCAL SEGMENTAL GLOMERULOSCLEROSIS-LIKE SYNDROME"]} |
Vacuolar interface dermatitis, with lymphocytes in the dermis and epidermis (black arrow indicates one), and vacuolization (white arrow) at the dermoepidermal junction.
Micrograph of a vacuolar interface dermatitis with dermal mucin, as may be seen in lupus. H&E stain.
Vacuolar interface dermatitis (VAC, also known... | Vacuolar interface dermatitis | c0262982 | 5,420 | wikipedia | https://en.wikipedia.org/wiki/Vacuolar_interface_dermatitis | 2021-01-18T19:05:13 | {"umls": ["C0262982"], "wikidata": ["Q7908029"]} |
Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the... | Desbuquois syndrome | c0432242 | 5,421 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1425 | 2021-01-23T19:03:20 | {"gard": ["1818"], "mesh": ["C535943"], "omim": ["251450", "300881", "615777"], "umls": ["C0432242"], "icd-10": ["Q78.8"], "synonyms": ["DBQD", "Desbuquois dysplasia"]} |
6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning... | 6-pyruvoyl-tetrahydropterin synthase deficiency | c0878676 | 5,422 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=13 | 2021-01-23T19:06:51 | {"gard": ["5682"], "mesh": ["C535325"], "omim": ["261640"], "umls": ["C0878676"], "icd-10": ["E70.1"], "synonyms": ["Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Polymelia" – news · newspapers · books · scholar · JSTOR (December 2016) (Learn how and when to remove this template me... | Polymelia | c0265546 | 5,423 | wikipedia | https://en.wikipedia.org/wiki/Polymelia | 2021-01-18T18:46:05 | {"wikidata": ["Q661933"]} |
A number sign (#) is used with this entry because this form of hereditary renal disease, referred to here as nephrotic syndrome type 3 (NPHS3), is caused by homozygous or compound heterozygous mutation in the PLCE1 gene (608414) on chromosome 10q23.
Description
Nephrotic syndrome, a malfunction of the glomerular fi... | NEPHROTIC SYNDROME, TYPE 3 | c1868672 | 5,424 | omim | https://www.omim.org/entry/610725 | 2019-09-22T16:04:11 | {"doid": ["0080382"], "mesh": ["C536404"], "omim": ["610725"], "orphanet": ["656"], "synonyms": ["Alternative titles", "NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3"]} |
Cytomegalovirus esophagitis
SpecialtyGastroenterology, Infectious disease
Cytomegalovirus esophagitis is a form of esophagitis associated with cytomegalovirus.[1] Symptoms include dysphagia, upper abdominal pain, diarrhea, nausea, vomiting, and sometimes hematemesis. This condition occurs in the setting of pat... | Cytomegalovirus esophagitis | c0877119 | 5,425 | wikipedia | https://en.wikipedia.org/wiki/Cytomegalovirus_esophagitis | 2021-01-18T18:41:22 | {"wikidata": ["Q5201362"]} |
## Description
Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an i... | HYDROXYPROLINEMIA | c0268531 | 5,426 | omim | https://www.omim.org/entry/237000 | 2019-09-22T16:26:54 | {"mesh": ["C562669"], "omim": ["237000"], "icd-10": ["E72.59"], "synonyms": ["Alternative titles", "4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY"]} |
Lenz microphthalmia syndrome is one of a group of genetic disorders known as syndromic microphthalmia. These conditions involve abnormal development of the eyes and several other parts of the body. Eye symptoms may include underdeveloped (small)or absent eyes, clouding of the lens (cataracts), uncontrolled eye moveme... | Lenz microphthalmia syndrome | c0796016 | 5,427 | gard | https://rarediseases.info.nih.gov/diseases/87/lenz-microphthalmia-syndrome | 2021-01-18T17:59:28 | {"mesh": ["C537464"], "omim": ["309800"], "umls": ["C0796016"], "orphanet": ["568"], "synonyms": ["Microphthalmia syndromic 1", "MCOPS1", "Lenz dysplasia", "Syndromic microphthalmia type 1", "MAA (formerly)", "Microphthalmia or anophthalmos with associated anomalies (formerly)", "Microphthalmia Lenz type"]} |
Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. T... | Tyrosinemia type 3 | c0268623 | 5,428 | gard | https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3 | 2021-01-18T17:57:14 | {"mesh": ["D020176"], "omim": ["276710"], "umls": ["C0268623"], "orphanet": ["69723"], "synonyms": ["Tyrosinemia type III", "4-alpha hydroxyphenylpyruvic acid oxidase deficiency", "4-alpha hydroxyphenylpyruvate dioxygenase deficiency", "4-hydroxyphenylpyruvate dioxygenase deficiency"]} |
A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also obser... | Telethonin-related limb-girdle muscular dystrophy R7 | c1866008 | 5,429 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34514 | 2021-01-23T17:53:36 | {"gard": ["10471"], "mesh": ["C566599"], "omim": ["601954"], "umls": ["C1866008"], "icd-10": ["G71.0"], "synonyms": ["Autosomal recessive limb-girdle muscular dystrophy type 2G", "LGMD due to telethonin deficiency", "LGMD type 2G", "LGMD2G", "Limb-girdle muscular dystrophy due to telethonin deficiency", "Limb-girdle mu... |
Morse et al. (1987) reported the prenatal diagnosis of a characteristic abnormality in 2 fetuses with congenital contractures, markedly decreased fetal movement, and microcephaly due to severe holoprosencephaly. The knees were in extension. Both were male; the parents were normal and not related. The disorder resembl... | HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE | c1844016 | 5,430 | omim | https://www.omim.org/entry/306990 | 2019-09-22T16:18:11 | {"mesh": ["C564409"], "omim": ["306990"], "orphanet": ["2570"]} |
Not to be confused with Cinchonism.
Neuropsychiatric quinism is a chronic encephalopathy due to intoxication by mefloquine, quinacrine, chloroquine. It is associated with brain dysfunction and brainstem dysfunction. It may be confused as posttraumatic stress disorder (PTSD) and traumatic brain injury (TBI). In the o... | Quinism | None | 5,431 | wikipedia | https://en.wikipedia.org/wiki/Quinism | 2021-01-18T18:39:25 | {"wikidata": ["Q85795345"]} |
Neurological symptom of lack of will or initiative
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find ... | Abulia | c0919974 | 5,432 | wikipedia | https://en.wikipedia.org/wiki/Abulia | 2021-01-18T18:44:32 | {"wikidata": ["Q335941"]} |
A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young ... | Isolated congenital hepatic fibrosis | None | 5,433 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=485426 | 2021-01-23T17:27:33 | {"synonyms": ["Isolated CHF"]} |
A number sign (#) is used with this entry because of evidence that palmoplantar keratoderma and woolly hair (PPKWH) is caused by homozygous mutation in the KANK2 gene (614610) on chromosome 19p13.
Clinical Features
Ramot et al. (2014) studied 2 consanguineous Arab families with keratoderma and woolly hair, 1 of whi... | PALMOPLANTAR KERATODERMA AND WOOLLY HAIR | c4015202 | 5,434 | omim | https://www.omim.org/entry/616099 | 2019-09-22T15:49:55 | {"omim": ["616099"], "orphanet": ["420686"], "synonyms": ["KWWH type IV", "Keratoderma with woolly hair type IV", "Woolly hair-palmoplantar hyperkeratosis syndrome"]} |
17q12 duplication occurs when a person has an extra copy of a portion of chromosome 17. Our genetic information is organized in structures called chromosomes. People with 17q12 duplication have an extra piece of genetic information from chromosome 17. Some people with this duplication do not have any signs or symptom... | 17q12 duplication | c3281137 | 5,435 | gard | https://rarediseases.info.nih.gov/diseases/13296/17q12-duplication | 2021-01-18T18:02:26 | {"omim": ["614526"], "orphanet": ["261272"], "synonyms": ["Chromosome 17q12 duplication syndrome", "Recurrent duplication of 17q12", "Dup(17)(q12)", "17q12 microduplication syndrome", "17q12 microduplication", "Trisomy 17q12"]} |
HIV/AIDS in Bhutan remains a relatively rare disease among its population. It has, however, grown into an issue of national concern since Bhutan's first reported case in 1993. Despite preemptive education and counseling efforts, the number of reported HIV/AIDS cases has climbed since the early 1990s. This prompted in... | HIV/AIDS in Bhutan | None | 5,436 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Bhutan | 2021-01-18T19:05:45 | {"wikidata": ["Q5629821"]} |
Galton et al. (1974) described patients with obesity resulting from a defect in triglyceride breakdown. In the form of triglyceride storage disease they called type II, both the beta-adrenergic receptor and adenyl cyclase were intact as judged by a normal increment in tissue levels of cyclic AMP on treatment with... | TRIGLYCERIDE STORAGE DISEASE, TYPE II | c1860820 | 5,437 | omim | https://www.omim.org/entry/190430 | 2019-09-22T16:32:17 | {"mesh": ["C566030"], "omim": ["190430"]} |
Kowarski syndrome
Other namesShort stature due to growth hormone qualitative anomaly
This condition is inherited in an autosomal recessive manner.
Kowarski syndrome[1] describes cases of growth failure (height and bone age two standard deviations below the mean for age), despite the presence of normal or sli... | Kowarski syndrome | c1849779 | 5,438 | wikipedia | https://en.wikipedia.org/wiki/Kowarski_syndrome | 2021-01-18T19:00:43 | {"gard": ["408"], "mesh": ["C537505"], "orphanet": ["629"], "wikidata": ["Q17082044"]} |
A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild o... | Recurrent idiopathic neuroretinitis | None | 5,439 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=499103 | 2021-01-23T17:20:15 | {"synonyms": ["RINR"]} |
This article's lead section may be too short to adequately summarize its key points. Please consider expanding the lead to provide an accessible overview of all important aspects of the article. (September 2020)
Abortion in Vermont is legal. 70% of adults said in a poll by the Pew Research Center that abortion s... | Abortion in Vermont | None | 5,440 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Vermont | 2021-01-18T18:47:20 | {"wikidata": ["Q64876958"]} |
## Clinical Features
Huizing et al. (1994, 1996) reported a boy with macrosomia, mild dysmorphic features, severe psychomotor retardation, delayed myelination, and polymicrogyria. Mild dysmorphic features included prominent forehead, depressed nasal bridge, mild hypertelorism, high-arched palate, widely spaced ... | ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY | c3281106 | 5,441 | omim | https://www.omim.org/entry/614520 | 2019-09-22T15:54:54 | {"omim": ["614520"]} |
A number sign (#) is used with this entry because of evidence that multicentric carpotarsal osteolysis syndrome (MCTO) is caused by heterozygous mutation in the MAFB gene (608968) on chromosome 20q12.
Description
Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early c... | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME | c2674705 | 5,442 | omim | https://www.omim.org/entry/166300 | 2019-09-22T16:37:01 | {"mesh": ["C567171"], "omim": ["166300"], "orphanet": ["2774"], "synonyms": ["Alternative titles", "OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY", "MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT"]} |
## Clinical Features
Aryl hydrocarbon hydroxylase (AHH, CYP1A1) is one of the mixed function oxidases in the microsomal fraction. Busbee et al. (1972) found 3 distinct groups--low, intermediate, and high--in regard to inducibility of AHH measured in cultured lymphocytes 24 hours after introduction of 3-methylcholan... | ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY | c1862463 | 5,443 | omim | https://www.omim.org/entry/108340 | 2019-09-22T16:44:44 | {"mesh": ["C566250"], "omim": ["108340"], "synonyms": ["Alternative titles", "AHH INDUCIBILITY"]} |
A number sign (#) is used with this entry because of evidence that factor XII deficiency is caused by mutation in the F12 gene (610619) on chromosome 5q35.
Clinical Features
Factor XII deficiency was usually discovered because of the practice in some hospitals of routinely performing whole blood clotting times befo... | FACTOR XII DEFICIENCY | c0015526 | 5,444 | omim | https://www.omim.org/entry/234000 | 2019-09-22T16:27:19 | {"doid": ["2231"], "mesh": ["D005175"], "omim": ["234000"], "orphanet": ["330"], "synonyms": ["Alternative titles", "F12 DEFICIENCY", "HAGEMAN FACTOR DEFICIENCY", "HAF DEFICIENCY"]} |
A number sign (#) is used with this entry because of evidence that variants in the SMAD7 gene (602932) influence susceptibility to colorectal cancer.
For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500.
Mapping
To identify risk variants for colorectal cancer, Bro... | COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 | c2677123 | 5,445 | omim | https://www.omim.org/entry/612229 | 2019-09-22T16:02:06 | {"omim": ["612229"], "synonyms": ["Alternative titles", "COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 18"]} |
Megarbane et al. (2004) described what they considered to be a newly recognized autosomal recessive syndrome in a 4-year-old girl, the offspring of healthy first-cousin Lebanese parents. The features were severe pre- and postnatal short stature, low pitched voice, retinitis pigmentosa, photophobia, short neck, broad ... | SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA | c1836898 | 5,446 | omim | https://www.omim.org/entry/609047 | 2019-09-22T16:06:46 | {"mesh": ["C563806"], "omim": ["609047"]} |
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the ... | Heart-hand syndrome type 2 | c2931323 | 5,447 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1350 | 2021-01-23T18:24:06 | {"gard": ["9847"], "mesh": ["C536784"], "umls": ["C2931323"], "icd-10": ["Q87.2"], "synonyms": ["Atriodigital dysplasia type 2", "Tabatznik syndrome"]} |
In this disorder the thumb is adducted and flexed across the palm due to a defect in the extensors of the thumb. Weckesser et al. (1968) described an American black family in which 7 males in 4 sibships were affected. The pattern was entirely consistent with X-linked recessive inheritance. Findings in children and gr... | THUMBS, CONGENITAL CLASPED | c0431886 | 5,448 | omim | https://www.omim.org/entry/314100 | 2019-09-22T16:17:09 | {"mesh": ["C562949"], "omim": ["314100"], "synonyms": ["Alternative titles", "ADDUCTED THUMBS SYNDROME"]} |
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Find sources: "Disorders of calcium metabolism" – news · newspapers · books · scholar · JSTOR (September 2010) (Learn how and when to ... | Disorders of calcium metabolism | c0006705 | 5,449 | wikipedia | https://en.wikipedia.org/wiki/Disorders_of_calcium_metabolism | 2021-01-18T18:57:14 | {"mesh": ["D002128"], "umls": ["C0006705"], "wikidata": ["Q5282519"]} |
Congenital anomaly of rotation of the midgut
Intestinal malrotation
SpecialtyMedical genetics
Intestinal malrotation is a congenital anomaly of rotation of the midgut. It occurs during the first trimester as the fetal gut undergoes a complex series of growth and development. Malrotation can lead to a dang... | Intestinal malrotation | c0221210 | 5,450 | wikipedia | https://en.wikipedia.org/wiki/Intestinal_malrotation | 2021-01-18T18:56:13 | {"mesh": ["C562456"], "umls": ["C0345255", "C0221210"], "icd-9": ["751.4"], "icd-10": ["Q43.3"], "orphanet": ["2454"], "wikidata": ["Q448023"]} |
Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth fo... | Transient neonatal diabetes mellitus | c1832386 | 5,451 | gard | https://rarediseases.info.nih.gov/diseases/1839/transient-neonatal-diabetes-mellitus | 2021-01-18T17:57:19 | {"mesh": ["C563322"], "omim": ["601410", "610374", "610582"], "umls": ["C1832386"], "orphanet": ["99886"], "synonyms": ["TNDM1", "TNDM", "DMTN", "Diabetes mellitus, transient neonatal", "Chromosome 6-associated transient diabetes mellitus", "Diabetes mellitus, 6q24-related transient neonatal"]} |
A number sign (#) is used with this entry because of evidence that this form of renal disease, referred to here as nephrotic syndrome type 4 (NPHS4), is caused by mutation in the Wilms tumor suppressor gene (WT1; 607102) on chromosome 11p13.
Mutation in the WT1 gene can also cause isolated Wilms tumor (194070), as w... | NEPHROTIC SYNDROME, TYPE 4 | c1868672 | 5,452 | omim | https://www.omim.org/entry/256370 | 2019-09-22T16:24:24 | {"doid": ["0080383"], "mesh": ["C536404"], "omim": ["256370"], "orphanet": ["656"]} |
A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concen... | Cathepsin A-related arteriopathy-strokes-leukoencephalopathy | None | 5,453 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=575553 | 2021-01-23T18:53:19 | {"synonyms": ["CARASAL"]} |
Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
*[v]: View this template
*[t]: Discuss this template
*[e... | Hyperprolinemia type 2 | c2931835 | 5,454 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79101 | 2021-01-23T18:51:30 | {"gard": ["1798", "6710"], "mesh": ["C538385"], "omim": ["239510"], "umls": ["C0268530", "C2931835"], "icd-10": ["E72.5"], "synonyms": ["Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency"]} |
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.
Peopl... | Mucopolysaccharidosis type VI | c0026709 | 5,455 | medlineplus | https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vi/ | 2021-01-27T08:24:56 | {"gard": ["7095"], "mesh": ["D009087"], "omim": ["253200"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by homozygous mutation in the gene encoding glutamate decarboxylate-1 (GAD1; 605363) on chromosome 2q31. One such family has been reported.
Description
Cerebral palsy (CP) is defined as ... | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 | c2751938 | 5,456 | omim | https://www.omim.org/entry/603513 | 2019-09-22T16:13:04 | {"doid": ["10970"], "mesh": ["C567853"], "omim": ["603513"], "orphanet": ["210141"], "synonyms": ["Inherited congenital spastic quadriplegia", "Spastic quadriplegic cerebral palsy"]} |
A number sign (#) is used with this entry because distal hereditary motor neuronopathy type VIIB (dHMN7B or HMN7B) is caused by heterozygous mutation in the dynactin-1 gene (601143) on chromosome 2p13.
See also HMN7A (158580), which is caused by mutation in the SLC5A7 gene (608761) on chromosome 2q14.
For a general... | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB | c1843315 | 5,457 | omim | https://www.omim.org/entry/607641 | 2019-09-22T16:08:58 | {"doid": ["0111202"], "mesh": ["C564362"], "omim": ["607641"], "orphanet": ["139589"], "synonyms": ["Alternative titles", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "Distal spinal muscular atrophy with vocal cord paralysis", "DHMN7B", "... |
## Description
Total ophthalmoplegia involves total paralysis of all extra- and intraocular muscles. If one or more of the external muscles, including the levator palpebrae, is not affected, the condition is known as incomplete or partial ophthalmoplegia. If only 1 nerve is affected, the palsy is named after that n... | OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS | c1850314 | 5,458 | omim | https://www.omim.org/entry/258400 | 2019-09-22T16:24:06 | {"mesh": ["C564927"], "omim": ["258400"]} |
Athletic pubalgia
SpecialtySports medicine
Athletic pubalgia, also called sports hernia,[1] core injury,[2] hockey hernia,[3] hockey groin,[1] Gilmore's groin,[1] or groin disruption[4] is a medical condition of the pubic joint affecting athletes.[5]
It is a syndrome characterized by chronic groin pain in ath... | Athletic pubalgia | None | 5,459 | wikipedia | https://en.wikipedia.org/wiki/Athletic_pubalgia | 2021-01-18T18:47:08 | {"icd-9": ["848.8"], "wikidata": ["Q3099702"]} |
A number sign (#) is used with this entry because GM1-gangliosidosis is caused by mutation in the gene encoding beta-galactosidase-1 (GLB1; 611458).
Description
GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically... | GM1-GANGLIOSIDOSIS, TYPE I | c0085131 | 5,460 | omim | https://www.omim.org/entry/230500 | 2019-09-22T16:27:39 | {"doid": ["0080502"], "mesh": ["D016537"], "omim": ["230500"], "orphanet": ["79255", "354"], "synonyms": ["GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM", "Alternative titles", "GLB1 DEFICIENCY", "BETA-GALACTOSIDASE-1 DEFICIENCY", "Infantile GM1 gangliosidosis", "GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1", "Norman-Land... |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Syndrome of inappropriate antidiuretic hor... | Syndrome of inappropriate antidiuretic hormone secretion | c0021141 | 5,461 | wikipedia | https://en.wikipedia.org/wiki/Syndrome_of_inappropriate_antidiuretic_hormone_secretion | 2021-01-18T18:28:57 | {"gard": ["10306"], "mesh": ["D007177"], "umls": ["C0021141"], "icd-9": ["253.6"], "wikidata": ["Q959457"]} |
## Clinical Features
Type A3 brachydactyly is shortening of the middle phalanx of the fifth finger. Slanting of the distal articular surface of the middle phalanx leads to radial deflection of the distal phalanx. Because of rhomboid or triangular shape of the rudimentary middle phalanx, radial curvature (clinod... | BRACHYDACTYLY, TYPE A3 | c1862140 | 5,462 | omim | https://www.omim.org/entry/112700 | 2019-09-22T16:44:07 | {"mesh": ["C537090"], "omim": ["112700"], "synonyms": ["Alternative titles", "BRACHYMESOPHALANGY V", "BRACHYDACTYLY-CLINODACTYLY"]} |
## Clinical Features
Ohdo et al. (1987) described a 1-year-old child born to second-cousin parents who had tetraamelia, hypotrichosis, upward slanting palpebral fissures, lack of lacrimal openings, hypoplastic lacrimal ducts and sacs opening toward the exterior, prominent and bulbous nose, large downturned mouth (c... | TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES | c2931214 | 5,463 | omim | https://www.omim.org/entry/273390 | 2019-09-22T16:21:51 | {"mesh": ["C536496"], "omim": ["273390"]} |
## Description
Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bona... | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2 | c1837285 | 5,464 | omim | https://www.omim.org/entry/608831 | 2019-09-22T16:07:06 | {"omim": ["608831"]} |
Signet ring cell carcinoma
A signet ring cell carcinoma of the stomach. Signet ring cells are seen in the lower half of the image. Gastric epithelium is seen in the upper half of the image. H&E stain.
SpecialtyOncology
Signet ring cell carcinoma (SRCC) is a rare form of highly malignant adenocarcinoma[1] tha... | Signet ring cell carcinoma | c0206696 | 5,465 | wikipedia | https://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma | 2021-01-18T18:59:09 | {"mesh": ["D018279"], "umls": ["C0206696"], "wikidata": ["Q825923"]} |
"AVCD" redirects here. For audio VCD, see Video CD.
Atrioventricular septal defect
Illustration of a atrioventricular septal defect
SpecialtyMedical genetics
Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common atrioventricular canal" (CAVC) or "endocardia... | Atrioventricular septal defect | c0014116 | 5,466 | wikipedia | https://en.wikipedia.org/wiki/Atrioventricular_septal_defect | 2021-01-18T19:10:55 | {"gard": ["802"], "mesh": ["D004694"], "umls": ["C0014116"], "orphanet": ["98722"], "wikidata": ["Q390211"]} |
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have... | Absent radius-anogenital anomalies syndrome | c1839410 | 5,467 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3016 | 2021-01-23T18:56:01 | {"gard": ["4633"], "mesh": ["C535281"], "omim": ["312190"], "umls": ["C1839410"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Parathyroid neoplasm" – news · newspapers ... | Parathyroid neoplasm | c0030521 | 5,468 | wikipedia | https://en.wikipedia.org/wiki/Parathyroid_neoplasm | 2021-01-18T18:54:02 | {"mesh": ["D010282"], "umls": ["C0030521"], "icd-9": ["227.1", "194.1"], "icd-10": ["C75.0", "D35.1"], "orphanet": ["100090"], "wikidata": ["Q7136148"]} |
Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly b... | Tularemia | c0041351 | 5,469 | gard | https://rarediseases.info.nih.gov/diseases/396/tularemia | 2021-01-18T17:57:16 | {"mesh": ["D014406"], "umls": ["C0041351"], "synonyms": ["Francisella tularensis infection", "Deerfly fever", "Rabbit fever", "Pahvant Valley plague", "Ohara disease", "Yatobyo (Japan)", "Lemming fever"]} |
Implantation bleeding is the idea that a small amount of vaginal bleeding can occur in early pregnancy due to the fertilized egg attaching to the inside of the uterus.[1]
However, there is no support for the notion that implantation produces vaginal bleeding.[2] Bleeding and spotting are common during the luteal pha... | Implantation bleeding | None | 5,470 | wikipedia | https://en.wikipedia.org/wiki/Implantation_bleeding | 2021-01-18T19:00:25 | {"wikidata": ["Q3724756"]} |
Hsu et al. (1981) and Chan et al. (1984) described HLA-linked immune response (Ir) genes that control in vitro lymphoproliferative responses to challenge by certain synthetic polypeptide antigens (see 146950, 146960, 146810, 146820). Without prior in vivo immunization, human peripheral blood lymphocytes proliferate v... | IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGLPHE 1 | c3887956 | 5,471 | omim | https://www.omim.org/entry/147080 | 2019-09-22T16:39:35 | {"omim": ["147080"]} |
A number sign (#) is used with this entry because susceptibility to Crohn disease can be conferred by variation in the ATG16L1 gene (610767) on chromosome 2q37.
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease and ulcerative colitis, see... | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 10 | c1970207 | 5,472 | omim | https://www.omim.org/entry/611081 | 2019-09-22T16:03:40 | {"mesh": ["C567021"], "omim": ["611081"]} |
Retinal vasculitis
Retinal artery (at center)
SpecialtyNeurology
Retinal vasculitis is inflammation of the vascular branches of the retinal artery, caused either by primary ocular disease processes, or as a specific presentation of any systemic form of vasculitis such as Behçet's disease, sarcoidosis, multip... | Retinal vasculitis | c0152026 | 5,473 | wikipedia | https://en.wikipedia.org/wiki/Retinal_vasculitis | 2021-01-18T18:40:17 | {"mesh": ["D031300"], "umls": ["C0152026"], "wikidata": ["Q7316771"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-5 (JBTS5) is caused by homozygous or compound heterozygous mutation in the gene encoding the centrosomal protein CEP290 (610142) on chromosome 12q21.
For a phenotypic description and a discussion of genetic heterogeneity of Joube... | JOUBERT SYNDROME 5 | c1855675 | 5,474 | omim | https://www.omim.org/entry/610188 | 2019-09-22T16:04:59 | {"doid": ["0111000"], "mesh": ["C537430"], "omim": ["610188"], "orphanet": ["2318"], "genereviews": ["NBK1325"]} |
Mulberry molar
Other namesSyphilitic permanent first molar[1]
Mulberry molars are a dental condition usually associated with congenital syphilis, characterized by multiple rounded rudimentary enamel cusps on the permanent first molars.[2] Mulberry molars are physically defective permanent molars. The deformity... | Mulberry molar | c0266024 | 5,475 | wikipedia | https://en.wikipedia.org/wiki/Mulberry_molar | 2021-01-18T18:50:07 | {"umls": ["C0266024"], "wikidata": ["Q6933835"]} |
## Clinical Features
Fukushima et al. (1999) reported a family in which 13 members over 4 generations had a form of autosomal dominant nonsyndromic hearing loss, designated DFNA16, in which the phenotype included rapidly progressing and fluctuating hearing loss that appeared to respond to steroid therapy. Heari... | DEAFNESS, AUTOSOMAL DOMINANT 16 | c1858916 | 5,476 | omim | https://www.omim.org/entry/603964 | 2019-09-22T16:12:31 | {"doid": ["0110547"], "mesh": ["C565832"], "omim": ["603964"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolate... |
## Summary
### Clinical characteristics.
CASK disorders include a spectrum of phenotypes in both females and males. Two main types of clinical presentation are seen:
* Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK
* X-linke... | CASK Disorders | None | 5,477 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK169825/ | 2021-01-18T21:38:46 | {"synonyms": []} |
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
## Epidemiology
The disease is very rare and only five cases (four males and one female) have been reported in the literature so far.
## Clinical description
Pyknoachondrogenesis may be detected prenatally due to the extre... | Pyknoachondrogenesis | c1849523 | 5,478 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3003 | 2021-01-23T19:00:34 | {"gard": ["4610"], "mesh": ["C536251"], "omim": ["265880"], "umls": ["C1849523"], "icd-10": ["Q78.8"], "synonyms": ["Camera syndrome"]} |
## Summary
### Clinical characteristics.
X-linked Opitz G/BBB syndrome (X-OS) is a multiple-congenital-anomaly disorder characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic... | X-Linked Opitz G/BBB Syndrome | c2936904 | 5,479 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1327/ | 2021-01-18T20:48:17 | {"mesh": ["C567932"], "synonyms": ["Opitz Syndrome", "X-Linked; XLOS"]} |
A number sign (#) is used with this entry because of evidence that exudative vitreoretinopathy-6 (EVR6) is caused by heterozygous mutation in the ZNF408 gene (616454) on chromosome 11p11. One such family has been reported.
Homozygous mutation in the ZNF408 gene has been reported to cause retinitis pigmentosa (see RP... | EXUDATIVE VITREORETINOPATHY 6 | c0339539 | 5,480 | omim | https://www.omim.org/entry/616468 | 2019-09-22T15:48:45 | {"mesh": ["C580083"], "omim": ["616468"], "orphanet": ["891"]} |
This article is about the congenital disorder. For the neurological syndrome, see split hand syndrome.
Ectrodactyly
Ectrodactyly on the hand of a one-year-old child
SpecialtyMedical genetics
Ectrodactyly, split hand, cleft hand,[1] derived from the Greek ektroma (abortion) and daktylos (finger)[2] involves ... | Ectrodactyly | c0265554 | 5,481 | wikipedia | https://en.wikipedia.org/wiki/Ectrodactyly | 2021-01-18T18:30:47 | {"mesh": ["C574275"], "umls": ["C0265554"], "icd-9": ["755.4"], "icd-10": ["Q71.671.6"], "orphanet": ["2440"], "wikidata": ["Q650026"]} |
3q29 microduplication syndrome (also known as 3q29 duplication syndrome) is a condition that results from the copying (duplication) of a small piece of chromosome 3 in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q29.
The features associated with 3q29 microdupl... | 3q29 microduplication syndrome | c2749873 | 5,482 | medlineplus | https://medlineplus.gov/genetics/condition/3q29-microduplication-syndrome/ | 2021-01-27T08:25:29 | {"gard": ["10360"], "mesh": ["C567626"], "omim": ["611936"], "synonyms": []} |
Pigmented spindle cell nevus
Other namesPigmented spindle cell tumor of Reed,[1] pigmented variant of Spitz nevus[1]
Micrograph of a pigmented spindle cell nevus (top of image). H&E stain.
SpecialtyDermatology
A pigmented spindle cell nevus is a skin condition characterized by a dark brown to black macule ... | Pigmented spindle cell nevus | c0474967 | 5,483 | wikipedia | https://en.wikipedia.org/wiki/Pigmented_spindle_cell_nevus | 2021-01-18T18:41:41 | {"mesh": ["D018331"], "umls": ["C0474967"], "wikidata": ["Q7193412"]} |
Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.
## Epidemiology
Prevalence is unknown.
## Clinical description
Fluctuating myotonia develops during childhood or adolescen... | Myotonia fluctuans | c0752355 | 5,484 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99734 | 2021-01-23T18:33:57 | {"mesh": ["D020967"], "omim": ["608390"], "umls": ["C0752355"], "icd-10": ["G71.1"], "synonyms": ["Exercise-induced delayed-onset myotonia", "Fluctuating myotonia"]} |
A number sign (#) is used with this entry because of evidence that a syndrome of infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) is caused by heterozygous mutation in the glutaminase gene (GLS; 138280) on chromosome 2q32. One such patient has been reported.
De... | INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | None | 5,485 | omim | https://www.omim.org/entry/618339 | 2019-09-22T15:42:27 | {"omim": ["618339"]} |
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifestating with various phenotypes which include EBV-driven hemophagocytic lym... | X-linked lymphoproliferative disease due to XIAP deficiency | c1845076 | 5,486 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=538934 | 2021-01-23T19:12:11 | {"mesh": ["C564469"], "omim": ["300635"], "synonyms": ["X-linked lymphoproliferative syndrome type 2", "XIAP deficiency syndrome", "XLP2"]} |
A number sign (#) is used with this entry because of evidence that Schindler disease types I and III are caused by homozygous or compound heterozygous mutation in the alpha-N-acetylgalactosaminidase gene (NAGA; 104170) on chromosome 22q13.
Description
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare... | SCHINDLER DISEASE, TYPE I | c1836544 | 5,487 | omim | https://www.omim.org/entry/609241 | 2019-09-22T16:06:31 | {"mesh": ["C536631"], "omim": ["609241"], "orphanet": ["3137", "79279", "79281"], "synonyms": ["Alternative titles", "NEUROAXONAL DYSTROPHY, SCHINDLER TYPE", "ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I", "NAGA DEFICIENCY, TYPE I"]} |
## Description
Aspirin (acetylsalicylic acid) is a classic nonsteroidal antiinflammatory agent that irreversibly inhibits type I cyclooxygenase (PTGS1, or COX1; 176805) in platelets, resulting in decreased production of thromboxane A2 (TXA2) and inhibition of platelet aggregation. Because of this feature, it is use... | ASPIRIN RESISTANCE | c1842372 | 5,488 | omim | https://www.omim.org/entry/608223 | 2019-09-22T16:08:09 | {"omim": ["608223"], "synonyms": ["Alternative titles", "ASPIRIN, RESISTANCE TO ANTITHROMBOTIC EFFECT OF", "ASPIRIN, RESISTANCE TO CARDIOPROTECTIVE EFFECT OF"]} |
Cerebellar degeneration refers to the deterioration of neurons (nerve cells) in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex (t... | Cerebellar degeneration | c0262404 | 5,489 | gard | https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration | 2021-01-18T18:01:34 | {"umls": ["C0262404"], "synonyms": []} |
A number sign (#) is used with this entry because primary microcephaly-2 (MCPH2) with or without cortical malformations is caused by homozygous or compound heterozygous mutation in the WDR62 gene (613583) on chromosome 19q13.
Description
Microcephaly-2 with or without cortical malformations is an autosomal recessiv... | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS | c3711387 | 5,490 | omim | https://www.omim.org/entry/604317 | 2019-09-22T16:12:12 | {"doid": ["0070293"], "mesh": ["C579935"], "omim": ["604317"], "orphanet": ["2512"]} |
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
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... | Autosomal dominant Charcot-Marie-Tooth disease type 2A1 | c1861678 | 5,491 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99946 | 2021-01-23T17:30:24 | {"mesh": ["C566138"], "omim": ["118210"], "umls": ["C1861678"], "icd-10": ["G60.0"], "synonyms": ["CMT2A1"]} |
Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of Alaska Natives known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta.
In Kuskokwi... | Kuskokwim syndrome | c1850168 | 5,492 | medlineplus | https://medlineplus.gov/genetics/condition/kuskokwim-syndrome/ | 2021-01-27T08:25:06 | {"gard": ["3150"], "mesh": ["C537406"], "omim": ["259450"], "synonyms": []} |
Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic for... | Carnitine palmitoyltransferase II deficiency | c1833511 | 5,493 | medlineplus | https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency/ | 2021-01-27T08:25:10 | {"gard": ["1121"], "mesh": ["C563462"], "omim": ["600649", "608836", "255110"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) is caused by homozygous mutation in the ASPH gene (600582) on chromosome 8q12.
Description
Traboulsi syndrome is characterized by dislocate... | FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS | c1832167 | 5,494 | omim | https://www.omim.org/entry/601552 | 2019-09-22T16:14:34 | {"mesh": ["C563293"], "omim": ["601552"], "orphanet": ["412022"], "synonyms": ["Alternative titles", "TRABOULSI SYNDROME", "SHAWAF-TRABOULSI SYNDROME", "ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM"]} |
Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. As a person ages, the l... | Paroxysmal extreme pain disorder | c1833661 | 5,495 | gard | https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder | 2021-01-18T17:58:26 | {"mesh": ["C563475"], "omim": ["167400"], "orphanet": ["46348"], "synonyms": ["Familial rectal syndrome", "PEPD", "PEXPD", "Submandibular, ocular, and rectal pain with flushing", "Familial rectal pain"]} |
This article's lead section may be too short to adequately summarize its key points. Please consider expanding the lead to provide an accessible overview of all important aspects of the article. (December 2016)
Béguez-Chédiak–Higashi syndrome
Béguez-Chédiak–Higashi syndrome is inherited in an autosomal recessi... | Chédiak–Higashi syndrome | c0007965 | 5,496 | wikipedia | https://en.wikipedia.org/wiki/Ch%C3%A9diak%E2%80%93Higashi_syndrome | 2021-01-18T18:29:12 | {"gard": ["6035"], "mesh": ["D002609"], "umls": ["C0007965"], "icd-9": ["288.2"], "orphanet": ["167"], "wikidata": ["Q934034"]} |
Embryonal rhabdomyosarcoma
SpecialtyOncology
Embryonal rhabdomyosarcoma (ERMS) is a rare histological form of cancer of connective tissue wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo. It is the most common soft tissue sarcoma occurring in... | Embryonal rhabdomyosarcoma | c0206656 | 5,497 | wikipedia | https://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma | 2021-01-18T18:44:03 | {"gard": ["4702"], "mesh": ["D018233"], "umls": ["C0206656"], "orphanet": ["99757"], "wikidata": ["Q5370233"]} |
Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
## Epidemiology
Incidence is uncertain and is estimated around 1/25,000.
## Clinical description
A number of cases are prenatally diagnosed because... | Tetrasomy 12p | c0265449 | 5,498 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=884 | 2021-01-23T18:10:10 | {"gard": ["8421"], "mesh": ["C538105"], "omim": ["601803"], "umls": ["C0265449"], "icd-10": ["Q99.8"], "synonyms": ["Isochromosome 12p mosaicism", "Isochromosome 12p syndrome", "Pallister-Killian syndrome"]} |
Fryns syndrome
Other namesDiaphragmatic hernia-abnormal face-distal limb anomalies syndrome
Fryns syndrome is inherited in an autoosomal recessive manner.
SpecialtyMedical genetics
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period.[1... | Fryns syndrome | c0220730 | 5,499 | wikipedia | https://en.wikipedia.org/wiki/Fryns_syndrome | 2021-01-18T18:55:28 | {"gard": ["3699"], "mesh": ["C538070"], "umls": ["C0220730"], "icd-10": ["Q87.8"], "orphanet": ["2059"], "wikidata": ["Q3508635"]} |
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