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This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (February 2017) (Learn how and when to remove this template message)
behavioral addiction characterized by compulsory indulgence over food... | Food addiction | c4505163 | 2,500 | wikipedia | https://en.wikipedia.org/wiki/Food_addiction | 2021-01-18T19:08:59 | {"mesh": ["D000073932"], "wikidata": ["Q2742106"]} |
Tumors that develop within the liver may be either benign (noncancerous) or malignant (cancerous). Tumors can start in the liver, or spread to the liver from another cancer in the body. Malignant liver tumors have been reported to metastasize to other organs such as regional lymph nodes, lungs, kidneys, pancreas,... | Liver cancer in cats and dogs | None | 2,501 | wikipedia | https://en.wikipedia.org/wiki/Liver_cancer_in_cats_and_dogs | 2021-01-18T18:33:45 | {"wikidata": ["Q6658205"]} |
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Find sources: "Fibrous dysplasia of bone" – news · newspapers · books · scholar · JSTOR (January 2009) (Learn how and when to remove t... | Fibrous dysplasia of bone | c0259779 | 2,502 | wikipedia | https://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone | 2021-01-18T19:09:56 | {"gard": ["6444"], "mesh": ["D005357"], "umls": ["C0259779"], "icd-9": ["733.29", "526.89", "756.54"], "icd-10": ["Q78.1", "M85.0", "K10.8"], "orphanet": ["249"], "wikidata": ["Q1410864"]} |
Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to th... | Familial patent arterial duct | c4282128 | 2,503 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466729 | 2021-01-23T18:45:17 | {"omim": ["607411", "617035", "617039"]} |
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
## Epidemiology
The prevalence is estimated at 1/5,000 and there is no difference between sexes.
## Clinical description
Symptoms can app... | Marfan syndrome | c0024796 | 2,504 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=558 | 2021-01-23T18:08:03 | {"mesh": ["D008382"], "omim": ["154700", "610168"], "umls": ["C0024796"], "icd-10": ["Q87.4"], "synonyms": ["MFS"]} |
Neutrophil immunodeficiency syndrome
SpecialtyImmunology
Frequency<1 / 1 000 000[1]
Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2 gene.[2]
## See also[edit]
* Immunodeficiency with hyper-IgM
* List of cutaneous conditions
* Chronic granulomatous disease
## Refer... | Neutrophil immunodeficiency syndrome | c1842398 | 2,505 | wikipedia | https://en.wikipedia.org/wiki/Neutrophil_immunodeficiency_syndrome | 2021-01-18T18:28:59 | {"mesh": ["C564275"], "umls": ["C1842398"], "orphanet": ["183707"], "wikidata": ["Q7003142"]} |
## Summary
### Clinical characteristics.
FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to lig... | FH Tumor Predisposition Syndrome | c1708350 | 2,506 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1252/ | 2021-01-18T21:27:30 | {"mesh": ["C535516"], "synonyms": ["Hereditary Leiomyomatosis and Renal Cell Cancer", "HLRCC", "Multiple Cutaneous and Uterine Leiomyomatosis (MCL/MCUL)", "Reed's Syndrome"]} |
## Clinical Features
Van Wart (1978) reported a family in which father and 2 daughters had congenital absence of the nasal bones. Two sons and another daughter were normal.
Guerrissi (1993) reported a 20-year-old woman with absence of both nasal bones as an isolated malformation. Absence of the nasal bones was det... | NASAL BONES, ABSENCE OF | c0339851 | 2,507 | omim | https://www.omim.org/entry/161480 | 2019-09-22T16:37:37 | {"mesh": ["C562753"], "omim": ["161480"]} |
Intermetamorphosis
SpecialtyPsychiatry
Intermetamorphosis is a delusional misidentification syndrome, related to agnosia. The main symptoms consist of patients believing that they can see others change into someone else in both external appearance and internal personality.[1] The disorder is usually comorbid w... | Intermetamorphosis | c0278086 | 2,508 | wikipedia | https://en.wikipedia.org/wiki/Intermetamorphosis | 2021-01-18T19:08:02 | {"umls": ["C0278086"], "wikidata": ["Q3417919"]} |
Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).
## Epidemiology
To date, approximately 150 cases have ... | Griscelli syndrome | c1859194 | 2,509 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=381 | 2021-01-23T18:05:25 | {"gard": ["10913"], "mesh": ["C537301"], "omim": ["214450", "607624", "609227"], "icd-10": ["E70.3"], "synonyms": ["Chédiak-Higashi-like syndrome", "Griscelli-Pruniéras syndrome", "Partial albinism-immunodeficiency syndrome"]} |
A number sign (#) is used with this entry because autosomal dominant oculodentodigital dysplasia (ODDD) is caused by heterozygous mutation in the connexin-43 gene (GJA1; 121014) on chromosome 6q22.
Description
Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the... | OCULODENTODIGITAL DYSPLASIA | c0812437 | 2,510 | omim | https://www.omim.org/entry/164200 | 2019-09-22T16:37:15 | {"doid": ["0060291"], "mesh": ["C563160"], "omim": ["164200"], "orphanet": ["2710"], "synonyms": ["Alternative titles", "ODD SYNDROME", "OCULODENTOOSSEOUS DYSPLASIA"]} |
Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented ... | Müllerian duct anomalies-limb anomalies syndrome | c1840335 | 2,511 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2491 | 2021-01-23T17:03:42 | {"gard": ["2908"], "mesh": ["C537155"], "omim": ["146160"], "umls": ["C1840335"], "icd-10": ["Q87.8"]} |
X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth.
The muscle problems in X-linked m... | X-linked myotubular myopathy | c0410203 | 2,512 | medlineplus | https://medlineplus.gov/genetics/condition/x-linked-myotubular-myopathy/ | 2021-01-27T08:24:37 | {"gard": ["11925"], "mesh": ["D020914"], "omim": ["310400"], "synonyms": []} |
ZMC complex fracture
Other namesQuadripod fracture
Right zygomaticomaxillary complex fracture with disruption of the lateral orbital wall, orbital floor, zygomatic arch and maxillary sinus.
The zygomaticomaxillary complex fracture, also known as a quadripod fracture, quadramalar fracture, and formerly referr... | Zygomaticomaxillary complex fracture | c0435331 | 2,513 | wikipedia | https://en.wikipedia.org/wiki/Zygomaticomaxillary_complex_fracture | 2021-01-18T18:58:38 | {"umls": ["C0435331", "CL427957"], "wikidata": ["Q7843657"]} |
## Clinical Features
Daish et al. (1989) described 2 sisters, aged 4 years and 12 months, with hydrocephalus, tall stature, joint laxity, and thoracolumbar kyphosis. They were the only children of a 34-year-old father and a 30-year-old mother who were unrelated. The father was found at the age of 21 to have the... | HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS | c1856051 | 2,514 | omim | https://www.omim.org/entry/236660 | 2019-09-22T16:26:57 | {"mesh": ["C535770"], "omim": ["236660"], "orphanet": ["2181"]} |
Dens evaginatus involves an outfolding of the enamel organ in such a way that the occlusal surface of the affected posterior tooth has a tuberculated appearance. When these evaginations are fractured off, pulpal exposure may result. Few familial cases have been reported. However, a genetic basis was supported by Bixl... | DENS EVAGINATUS | c0266034 | 2,515 | omim | https://www.omim.org/entry/125280 | 2019-09-22T16:42:31 | {"omim": ["125280"], "icd-10": ["K00.2"]} |
Respiratory bronchiolitis interstitial lung disease
Other namesRB-ILD
SpecialtyPulmonology
Respiratory bronchiolitis interstitial lung disease refers to a form of idiopathic interstitial pneumonia associated with smoking.[1]
It is a histological finding, not a pathological description. When associated with ... | Respiratory bronchiolitis interstitial lung disease | c1735355 | 2,516 | wikipedia | https://en.wikipedia.org/wiki/Respiratory_bronchiolitis_interstitial_lung_disease | 2021-01-18T18:50:21 | {"umls": ["C1735355", "C1276236"], "orphanet": ["79127"], "wikidata": ["Q7315909"]} |
Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst)... | Congenital pericardium anomaly | c0685699 | 2,517 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2846 | 2021-01-23T17:01:32 | {"umls": ["C0685699"], "icd-10": ["Q24.8"]} |
The intense contact between a musical instrument and skin may exaggerate existing skin conditions or cause new skin conditions. Skin conditions like hyperhidrosis, lichen planus, psoriasis, eczema, and urticaria may be caused in instrumental musicians due to occupational exposure and stress. Allergic contact dermatit... | Skin conditions in instrumental musicians | None | 2,518 | wikipedia | https://en.wikipedia.org/wiki/Skin_conditions_in_instrumental_musicians | 2021-01-18T18:51:45 | {"wikidata": ["Q48999776"]} |
A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing l... | NAD(P)HX dehydratase deficiency | None | 2,519 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=555402 | 2021-01-23T18:49:28 | {"omim": ["618321"], "icd-10": ["G31.8"], "synonyms": ["CARKD deficiency"]} |
Examples in traumatic brain injury[1] Primary Secondary
* Intracerebral hemorrhage
* Subdural hemorrhage
* Subarachnoid hemorrhage
* Epidural hemorrhage
* Cerebral contusion
* Cerebral laceration
* Axonal stretch injury
* Cerebral edema
* Impaired metabolism
* Altered cerebral blood flow
... | Primary and secondary brain injury | None | 2,520 | wikipedia | https://en.wikipedia.org/wiki/Primary_and_secondary_brain_injury | 2021-01-18T18:37:54 | {"wikidata": ["Q7243097"]} |
Marfanoid (or Marfanoid habitus) is a constellation of symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
## Contents
* 1 ... | Marfanoid | c0424617 | 2,521 | wikipedia | https://en.wikipedia.org/wiki/Marfanoid | 2021-01-18T18:56:59 | {"umls": ["C0424617"], "orphanet": ["284993"], "wikidata": ["Q6759035"]} |
Bird fancier's lung
Other namesBird-breeder's lung, pigeon-breeder's lung
Micrograph of hypersensitivity pneumonitis, the histologic correlate of bird fancier's lung. Lung biopsy. Trichrome stain.
SpecialtyPulmonology
Bird fancier's lung (BFL) is a type of hypersensitivity pneumonitis (HP). It is trigg... | Bird fancier's lung | c0005592 | 2,522 | wikipedia | https://en.wikipedia.org/wiki/Bird_fancier%27s_lung | 2021-01-18T18:37:38 | {"mesh": ["D001716"], "umls": ["C0005592"], "wikidata": ["Q2529980"]} |
A number sign (#) is used with this entry because this form of Zellweger syndrome (PBD8A) is caused by homozygous mutation in the PEX16 gene (603360) on chromosome 11p11.
Description
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome bioge... | PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) | c0043459 | 2,523 | omim | https://www.omim.org/entry/614876 | 2019-09-22T15:53:51 | {"doid": ["0080483"], "mesh": ["D015211"], "omim": ["614876"], "orphanet": ["912"]} |
A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
## Epidemiology
Prevalence is unknown.
## Clinical description
The disease is clinically similar to X-linked and autosomal dominant hypophosphatemic rickets (see these terms). It mani... | Autosomal recessive hypophosphatemic rickets | c0342643 | 2,524 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289176 | 2021-01-23T17:19:00 | {"mesh": ["C562792"], "omim": ["241520", "613312"], "icd-10": ["E83.3"], "synonyms": ["ARHR"]} |
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy and hearing loss-2 (CRDHL2) is caused by homozygous or compound heterozygous mutation in the CEP250 gene (609689) on chromosome 20q11.
Description
Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystroph... | CONE-ROD DYSTROPHY AND HEARING LOSS 2 | None | 2,525 | omim | https://www.omim.org/entry/618358 | 2019-09-22T15:42:24 | {"omim": ["618358"]} |
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This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical d... | Congenital onychodysplasia of the index fingers | c1853984 | 2,526 | wikipedia | https://en.wikipedia.org/wiki/Congenital_onychodysplasia_of_the_index_fingers | 2021-01-18T18:57:33 | {"mesh": ["C538333"], "umls": ["C1853984"], "orphanet": ["79144"], "wikidata": ["Q5160446"]} |
A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra ... | Diphallia | c0345322 | 2,527 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=227 | 2021-01-23T18:31:35 | {"gard": ["1872"], "icd-10": ["Q55.6"]} |
A number sign (#) is used with this entry because of evidence that familial Alzheimer disease-1 (AD1) is caused by mutation in the gene encoding the amyloid precursor protein (APP; 104760) on chromosome 21q.
A homozygous mutation in the APP gene with a dominant-negative effect on amyloidogenesis was found in a patie... | ALZHEIMER DISEASE | c0276496 | 2,528 | omim | https://www.omim.org/entry/104300 | 2019-09-22T16:45:17 | {"doid": ["0080348"], "mesh": ["D000544"], "omim": ["104300"], "icd-9": ["331.0"], "icd-10": ["G30", "G30.9"], "orphanet": ["1020"], "synonyms": ["Alternative titles", "PRESENILE AND SENILE DEMENTIA"], "genereviews": ["NBK1161"]} |
McElfresh (1962) described a form of neonatal hyperbilirubinemia in 6 males of 2 generations in a pattern consistent with X-linked recessive inheritance. One affected member of the earlier generation was jaundiced with light stools for the first 5 months of life. He was 31 years of age and well, with 2 normal childre... | JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY | c1839927 | 2,529 | omim | https://www.omim.org/entry/308600 | 2019-09-22T16:18:06 | {"mesh": ["C564118"], "omim": ["308600"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to atopic dermatitis (ATOD2) linked to chromosome 1q21 is conferred by variation in the FLG gene (135940).
For a clinical description of atopic dermatitis and an overview of linkage studies, see 603165.
Mapping
Cookson et al. (2001) ... | DERMATITIS, ATOPIC, 2 | c1853965 | 2,530 | omim | https://www.omim.org/entry/605803 | 2019-09-22T16:11:04 | {"mesh": ["C565293"], "omim": ["605803"]} |
Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or si... | Paramedian nasal cleft | c0221363 | 2,531 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141242 | 2021-01-23T18:00:52 | {"mesh": ["C535441"], "omim": ["614687"], "umls": ["C0221363"], "icd-10": ["Q18.8"], "synonyms": ["Alar cleft", "Alar rim cleft", "Cleft nose", "Isolated cleft of the ala nasi", "Isolated coloboma of the nose", "Tessier number 1 cleft"]} |
Androgen insensitivity syndrome
AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body.
SpecialtyEndocrinology
Androgen insensitivity syndrome (AIS) is an intersex condition occurring in 1:20,000 individuals to 1:... | Androgen insensitivity syndrome | c0936016 | 2,532 | wikipedia | https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome | 2021-01-18T19:07:35 | {"gard": ["5803"], "mesh": ["D013734"], "umls": ["C0936016", "C0039585"], "icd-9": ["259.5259.5"], "icd-10": ["E34.534.5"], "orphanet": ["754"], "wikidata": ["Q512313"]} |
Rodent-borne viral infectious disease
Lymphocytic choriomeningitis
Other namesBenign lymphocytic meningitis, lymphocytic meningoencephalitis, serous lymphocytic meningitis, la maladie d'Armstrong[1]
SpecialtyInfectious disease
Lymphocytic choriomeningitis (LCM) is a rodent-borne viral infectious disease... | Lymphocytic choriomeningitis | c0153014 | 2,533 | wikipedia | https://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis | 2021-01-18T18:56:54 | {"mesh": ["D008216"], "umls": ["C0153014"], "wikidata": ["Q1878776"]} |
Cultural belief
Ghost sickness is a cultural belief among some traditional indigenous peoples in North America, notably the Navajo, and some Muscogee and Plains cultures, as well as among Polynesian peoples. People who are preoccupied and/or consumed by the deceased are believed to suffer from ghost sickness. Re... | Ghost sickness | c0520689 | 2,534 | wikipedia | https://en.wikipedia.org/wiki/Ghost_sickness | 2021-01-18T18:43:12 | {"wikidata": ["Q5557311"]} |
A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-7 (MGORS7) is caused by homozygous or compound heterozygous mutation in the CDC45 gene (603465) on chromosome 22q11.
For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, se... | MEIER-GORLIN SYNDROME 7 | c1868684 | 2,535 | omim | https://www.omim.org/entry/617063 | 2019-09-22T15:47:07 | {"doid": ["0080518"], "mesh": ["C538012"], "omim": ["617063"], "orphanet": ["2554"]} |
ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may ha... | ALG12-congenital disorder of glycosylation | c2931001 | 2,536 | medlineplus | https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation/ | 2021-01-27T08:25:00 | {"gard": ["9833", "10307"], "mesh": ["C535745"], "omim": ["607143"], "synonyms": []} |
Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).
... | Idiopathic localized lipodystrophy | None | 2,537 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90158 | 2021-01-23T18:20:15 | {"icd-10": ["E88.1"]} |
A number sign (#) is used with this entry because of evidence that neonatal sclerosing cholangitis (NSC) is caused by homozygous or compound heterozygous mutation in the DCDC2 gene (605755) on chromosome 6p22.
Description
Neonatal sclerosing cholangitis is a rare autosomal recessive form of severe liver disease wit... | SCLEROSING CHOLANGITIS, NEONATAL | c4479344 | 2,538 | omim | https://www.omim.org/entry/617394 | 2019-09-22T15:46:02 | {"omim": ["617394"]} |
## Summary
### Clinical characteristics.
Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/h... | Epidermolysis Bullosa with Pyloric Atresia | c1856934 | 2,539 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1157/ | 2021-01-18T21:28:32 | {"mesh": ["C535377"], "synonyms": ["Carmi Syndrome", "EB-PA", "Junctional Epidermolysis Bullosa with Pyloric Atresia", "PA-JEB"]} |
A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristica... | Antenatal Bartter syndrome | c1855849 | 2,540 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93604 | 2021-01-23T19:07:44 | {"mesh": ["C537651"], "omim": ["241200", "300971", "601678"], "icd-10": ["E26.8"], "synonyms": ["Bartter syndrome, furosemide type", "Bartter syndrome, furosemide-amiloride type", "Hyperprostaglandin E syndrome"]} |
Biological process of axonal degeneration
Nerve injury
Fluorescent micrographs (100x) of Wallerian degeneration in cut and crushed peripheral nerves. Left column is proximal to the injury, right is distal. A and B: 37 hours post cut. C and D: 40 hours post crush. E and F: 42 hours post cut. G and H: 44 hours post ... | Wallerian degeneration | c0043020 | 2,541 | wikipedia | https://en.wikipedia.org/wiki/Wallerian_degeneration | 2021-01-18T18:42:12 | {"gard": ["7875"], "mesh": ["D014855"], "wikidata": ["Q1753825"]} |
Dubowitz syndrome is a very rare genetic and developmental disorder with a broad range of signs and symptoms. The typical findings of Dubowitz syndrome include growth failure/short stature, characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis), short eyeli... | Dubowitz syndrome | c0175691 | 2,542 | gard | https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome | 2021-01-18T18:00:49 | {"mesh": ["C535718"], "omim": ["223370"], "umls": ["C0175691"], "orphanet": ["235"], "synonyms": ["Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci", "Dwarfism-eczema-peculiar facies syndrome"]} |
A number sign (#) is used with this entry because of evidence that mullerian aplasia and hyperandrogenism can be caused by heterozygous mutation in the WNT4 gene (603490) on chromosome 1p36.
Clinical Features
Biason-Lauber et al. (2004) reported an 18-year-old 46,XX woman, referred for evaluation of primary amenorr... | MULLERIAN APLASIA AND HYPERANDROGENISM | c2675014 | 2,543 | omim | https://www.omim.org/entry/158330 | 2019-09-22T16:37:59 | {"mesh": ["C567186"], "omim": ["158330"], "orphanet": ["247768"], "synonyms": ["Alternative titles", "MULLERIAN DUCT FAILURE AND HYPERANDROGENISM"]} |
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).
## Epidemiology
CAN has an estimate... | Crouzon syndrome-acanthosis nigricans syndrome | c2677099 | 2,544 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93262 | 2021-01-23T16:55:36 | {"mesh": ["C567382"], "omim": ["612247"], "umls": ["C2677099"], "icd-10": ["Q75.1"], "synonyms": ["Crouzon-dermoskeletal syndrome"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-28 (JBTS28) is caused by homozygous or compound heterozygous mutation in the MKS1 gene (609883) on chromosome 17q22.
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.
Clinical Fe... | JOUBERT SYNDROME 28 | c4310705 | 2,545 | omim | https://www.omim.org/entry/617121 | 2019-09-22T15:46:51 | {"doid": ["0110997"], "omim": ["617121", "213300"], "orphanet": ["475", "220493"], "synonyms": ["Cerebelloparenchymal disorder IV", "JS-O", "Classic Joubert syndrome", "Joubert-Boltshauser syndrome", "Joubert syndrome type A", "CPD IV", "Pure Joubert syndrome", "Joubert syndrome with retinopathy"], "genereviews": ["NBK... |
Tabes dorsalis
Other namesSyphilitic myelopathy
Axial section of the spinal cord showing syphilitic destruction (whitened area, upper center) of the posterior columns which carry sensory information from the body to the brain
SpecialtyNeurology
Tabes dorsalis is a late consequence of neurosyphilis, charact... | Tabes dorsalis | c0039223 | 2,546 | wikipedia | https://en.wikipedia.org/wiki/Tabes_dorsalis | 2021-01-18T18:29:41 | {"gard": ["8730"], "mesh": ["D013606"], "umls": ["C0039223"], "wikidata": ["Q2583311"]} |
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It has been suggested that this article be merged with sensory processing disorder. (Discuss) Proposed since July 2020.
This article includes a list of ge... | Sensory dysfunction disorder | None | 2,547 | wikipedia | https://en.wikipedia.org/wiki/Sensory_dysfunction_disorder | 2021-01-18T18:57:42 | {"wikidata": ["Q25048438"]} |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) is a rare inherited disorder that affects the immune system. It has been reported in very few patients to date and has only been diagnosed in males. In XMEN, the number of T cells, a type of immune cell, are decreased o... | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | c3275445 | 2,548 | gard | https://rarediseases.info.nih.gov/diseases/10907/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia | 2021-01-18T17:57:03 | {"omim": ["300853"], "orphanet": ["317476"], "synonyms": ["XMEN", "Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia", "CID due to MAGT1 deficiency", "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia", "Combined immunodeficiency due to MAGT1 defi... |
Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.
Narcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experienc... | Narcolepsy | c0007384 | 2,549 | medlineplus | https://medlineplus.gov/genetics/condition/narcolepsy/ | 2021-01-27T08:25:44 | {"gard": ["7162"], "mesh": ["D002385"], "omim": ["161400", "605841", "609039", "612417", "612851", "614223", "614250"], "synonyms": []} |
Not to be confused with Acne necrotica.
Acne miliaris necrotica
Other namesAcne varioliformis
SpecialtyDermatology
Acne miliaris necrotica is a rare condition consisting of follicular vesicopustules, sometimes occurring as solitary lesions that are usually very itchy.[1] The condition affects middle aged an... | Acne miliaris necrotica | c0311216 | 2,550 | wikipedia | https://en.wikipedia.org/wiki/Acne_miliaris_necrotica | 2021-01-18T18:52:05 | {"umls": ["C0311216"], "icd-9": ["706.0"], "icd-10": ["L70.2"], "wikidata": ["Q4674430"]} |
## Description
Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retros... | ACHALASIA, FAMILIAL ESOPHAGEAL | c0014848 | 2,551 | omim | https://www.omim.org/entry/200400 | 2019-09-22T16:31:41 | {"doid": ["9164"], "mesh": ["D004931"], "omim": ["200400"], "orphanet": ["930"]} |
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Find sources: "Scotoma" – news · newspapers · books · scholar · JSTOR (March 2019) (Learn how and when to remove this template message... | Scotoma | c0155012 | 2,552 | wikipedia | https://en.wikipedia.org/wiki/Scotoma | 2021-01-18T18:28:50 | {"mesh": ["D012607"], "umls": ["C0155011", "C0155012"], "wikidata": ["Q950591"]} |
A number sign (#) is used with this entry because cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome) is caused by homozygous mutation in the SNAP29 gene (604202) on chromosome 22q11.
Description
CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderm... | CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME | c1836033 | 2,553 | omim | https://www.omim.org/entry/609528 | 2019-09-22T16:05:58 | {"doid": ["0060337"], "mesh": ["C537943"], "omim": ["609528"], "orphanet": ["66631"], "synonyms": ["Alternative titles", "CEDNIK SYNDROME"]} |
Heredofamilial amyloidosis
SpecialtyDermatology
Heredofamilial amyloidosis is an inherited condition that may be characterized by systemic or localized deposition of amyloid in body tissues.[1]:522[2]
## See also[edit]
* Amyloidosis
* List of cutaneous conditions
## References[edit]
1. ^ James, Willi... | Heredofamilial amyloidosis | c0740340 | 2,554 | wikipedia | https://en.wikipedia.org/wiki/Heredofamilial_amyloidosis | 2021-01-18T18:52:48 | {"gard": ["6611"], "mesh": ["D028226"], "umls": ["C0206246"], "icd-10": ["E85.2"], "orphanet": ["444116"], "synonyms": [], "wikidata": ["Q5737919"]} |
Blood condition
Eosinophilia
Eosinophils in the peripheral blood of a patient with idiopathic eosinophilia
SpecialtyInfectious disease, hematology
Eosinophilia is a condition in which the eosinophil count in the peripheral blood exceeds 0.5×109/l (500/μL).[1] Hypereosinophilia is an elevation in an indi... | Eosinophilia | c0014457 | 2,555 | wikipedia | https://en.wikipedia.org/wiki/Eosinophilia | 2021-01-18T18:38:32 | {"mesh": ["D004802"], "umls": ["C0014457"], "wikidata": ["Q505142"]} |
An ileosigmoid knot is a form of volvulus in which ileum wraps around the base of the sigmoid and passes beneath itself forming a knot.
The exact cause of this condition is not known. Patients usually present with clinical features of colonic obstruction. Vomiting, abdominal distension, abdominal pain, blood sta... | Ileosigmoid knot | None | 2,556 | wikipedia | https://en.wikipedia.org/wiki/Ileosigmoid_knot | 2021-01-18T18:49:05 | {"wikidata": ["Q5997595"]} |
Not to be confused with Odontogenic cyst or Glandular odontogenic cyst.
Calcifying odontogenic cyst
Other namesGorlin cyst, calcifying cystic odontogenic tumor[1]
This condition usually affects the jaw area
SpecialtyDentistry
Calcifying odotogenic cyst (COC) is a rare developmental lesion that comes f... | Calcifying odontogenic cyst | c0206740 | 2,557 | wikipedia | https://en.wikipedia.org/wiki/Calcifying_odontogenic_cyst | 2021-01-18T19:09:10 | {"mesh": ["D018333"], "wikidata": ["Q5018774"]} |
A transmissible cancer is a cancer cell or cluster of cancer cells that can be transferred between individuals without the involvement of an infectious agent, such as an oncovirus.[1][2] Transmission of cancer between humans is rare.[2] The evolution of transmissible cancer has occurred naturally in other animal ... | Clonally transmissible cancer | None | 2,558 | wikipedia | https://en.wikipedia.org/wiki/Clonally_transmissible_cancer | 2021-01-18T18:56:13 | {"wikidata": ["Q247491"]} |
Congenital abnormality involving a single higher shoulder blade
Sprengel's deformity
Other namesSprengel deformity, Sprengel's shoulder, Sprengel shoulder, high scapula
Sprengel's deformity, showing a higher right-sided shoulder blade
SpecialtyMedical genetics
TypesMuscular forms
Sprengel's deformit... | Sprengel's deformity | c0152438 | 2,559 | wikipedia | https://en.wikipedia.org/wiki/Sprengel%27s_deformity | 2021-01-18T18:56:24 | {"gard": ["7693"], "mesh": ["C535802"], "umls": ["C0152438"], "icd-9": ["755.52"], "icd-10": ["Q74.0"], "orphanet": ["3181"], "wikidata": ["Q1850576"]} |
Phantom vibration syndrome or phantom ringing syndrome is the perception that one's mobile phone is vibrating or ringing when it is not. Other terms for this concept include ringxiety (a portmanteau of ring and anxiety), fauxcellarm (a portmanteau of "faux" /fo͜ʊ/ meaning "fake" or "false" and "cellphone" and "al... | Phantom vibration syndrome | None | 2,560 | wikipedia | https://en.wikipedia.org/wiki/Phantom_vibration_syndrome | 2021-01-18T18:45:46 | {"wikidata": ["Q3242773"]} |
Mucormycosis
Periorbital fungal infection known as mucormycosis, or phycomycosis
SpecialtyInfectious disease
Zygomycosis is the broadest term to refer to infections caused by bread mold fungi of the zygomycota phylum. However, because zygomycota has been identified as polyphyletic, and is not included in... | Zygomycosis | c0043541 | 2,561 | wikipedia | https://en.wikipedia.org/wiki/Zygomycosis | 2021-01-18T18:35:25 | {"gard": ["10224"], "mesh": ["D020096"], "icd-9": ["117.7"], "icd-10": ["B46"], "wikidata": ["Q3046374"]} |
Collecting duct carcinoma
Other namesBellini duct carcinoma[1]
Collecting duct carcinoma. H&E stain.
SpecialtyOncology/nephrology
Collecting duct carcinoma in computed tomography
Collecting duct carcinoma (CDC) is a type of kidney cancer that originates in the papillary duct of the kidney. It is rare,... | Collecting duct carcinoma | c1266044 | 2,562 | wikipedia | https://en.wikipedia.org/wiki/Collecting_duct_carcinoma | 2021-01-18T18:38:39 | {"gard": ["9573"], "mesh": ["D002292"], "umls": ["C1266044"], "orphanet": ["247203"], "wikidata": ["Q4884045"]} |
A slow-growing type of neuroendocrine tumor that sometimes causes paraneoplastic syndromes
Not to be confused with Chancroid.
Carcinoid is sometimes a type of carcinoma but is more often benign.
Carcinoid
Picture of a carcinoid tumor (center of image) that encroaches into the lumen of the small bowel (pathol... | Carcinoid | c0007095 | 2,563 | wikipedia | https://en.wikipedia.org/wiki/Carcinoid | 2021-01-18T18:53:20 | {"gard": ["9316"], "mesh": ["D002276"], "umls": ["C0007095"], "icd-9": ["209.60"], "icd-10": ["E34.0", "C75"], "wikidata": ["Q1734755"]} |
Bronchiolitis obliterans is an inflammatory condition that affects the lung's tiniest airways, the bronchioles. In affected people, the bronchioles may become damaged and inflamed leading to extensive scarring that blocks the airways. Signs and symptoms of the condition include a dry cough; shortness of breath; a... | Bronchiolitis obliterans | c0006272 | 2,564 | gard | https://rarediseases.info.nih.gov/diseases/9551/bronchiolitis-obliterans | 2021-01-18T18:01:41 | {"mesh": ["D001989"], "umls": ["C0006272"], "synonyms": ["Obliterative bronchiolitis"]} |
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Find sources: "Spermaturia" – news · newspapers · books · scholar · JSTOR (September 2015) (Learn how and when to remove this template... | Spermaturia | c1536073 | 2,565 | wikipedia | https://en.wikipedia.org/wiki/Spermaturia | 2021-01-18T18:28:03 | {"umls": ["C1536073"], "wikidata": ["Q1593114"]} |
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Polymicrogyria
This child... | Polymicrogyria | c0266464 | 2,566 | wikipedia | https://en.wikipedia.org/wiki/Polymicrogyria | 2021-01-18T19:06:30 | {"gard": ["12271"], "mesh": ["D065706"], "umls": ["C0266464"], "icd-9": ["742.2"], "orphanet": ["35981"], "wikidata": ["Q2991265"]} |
A number sign (#) is used with this entry because of evidence that joint laxity, short stature, and myopia (JLSM) is caused by homozygous mutation in the GZF1 gene (613842) on chromosome 20p11.
Clinical Features
Patel et al. (2017) studied 5 affected individuals from 2 consanguineous Saudi families with joint l... | JOINT LAXITY, SHORT STATURE, AND MYOPIA | c4540020 | 2,567 | omim | https://www.omim.org/entry/617662 | 2019-09-22T15:45:15 | {"omim": ["617662"], "orphanet": ["527450"], "synonyms": []} |
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.
## Epidemiology
It has been described in several members of an Australian and an Ita... | Distal myopathy with posterior leg and anterior hand involvement | c3279722 | 2,568 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=63273 | 2021-01-23T18:19:43 | {"omim": ["614065"], "icd-10": ["G71.0"], "synonyms": ["Distal ABD-filaminopathy"]} |
## Description
Parietal foramina-3 is a nonsyndromic developmental defect characterized by symmetrical oval holes in the parietal bone (Chen et al., 2003).
For a discussion of genetic heterogeneity of parietal foramina, see 168500.
Clinical Features
Chen et al. (2003) reported a large Chinese pedigree in which 1... | PARIETAL FORAMINA 3 | c1868598 | 2,569 | omim | https://www.omim.org/entry/609566 | 2019-09-22T16:05:54 | {"doid": ["0060285"], "mesh": ["C566826"], "omim": ["609566"], "orphanet": ["60015"]} |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging re... | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | c3150921 | 2,570 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402364 | 2021-01-23T17:54:13 | {"gard": ["10995"], "omim": ["613668"], "icd-10": ["Q04.3"]} |
Death of a region of brain cells due to poor blood flow
For other uses, see Stroke (disambiguation).
Stroke
Other namesCerebrovascular accident (CVA), cerebrovascular insult (CVI), brain attack
CT scan of the brain showing a prior right-sided ischemic stroke from blockage of an artery. Changes on a CT may not b... | Stroke | c0038454 | 2,571 | wikipedia | https://en.wikipedia.org/wiki/Stroke | 2021-01-18T18:39:27 | {"mesh": ["D020521"], "wikidata": ["Q12202"]} |
A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular sof... | Hyaluronidase deficiency | c1291490 | 2,572 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=67041 | 2021-01-23T17:24:13 | {"mesh": ["C563209"], "omim": ["601492"], "umls": ["C1291490"], "icd-10": ["E76.2"], "synonyms": ["MPS9", "MPSIX", "Mucopolysaccharidosis type 9", "Mucopolysaccharidosis type IX"]} |
Not to be confused with Dyskaryosis.
Dyskeratosis is abnormal keratinization occurring prematurely within individual cells or groups of cells below the stratum granulosum.[1]
Dyskeratosis congenita is congenital disease characterized by reticular skin pigmentation, nail degeneration, and leukoplakia on the mucous m... | Dyskeratosis | c0334061 | 2,573 | wikipedia | https://en.wikipedia.org/wiki/Dyskeratosis | 2021-01-18T19:01:50 | {"umls": ["C0334061"], "wikidata": ["Q2897327"]} |
Partial unilateral lentiginosis
Other namesSegmental lentiginosis[1]
SpecialtyDermatology
Partial unilateral lentiginosis is a cutaneous condition characterized by lentigines located on only one half of the body.[1]:686[2]
## See also[edit]
* Lentigo
* List of cutaneous conditions
## References[ed... | Partial unilateral lentiginosis | c0406809 | 2,574 | wikipedia | https://en.wikipedia.org/wiki/Partial_unilateral_lentiginosis | 2021-01-18T18:32:42 | {"umls": ["C0406809"], "wikidata": ["Q7140392"]} |
Clavicle fracture
Other namesBroken collarbone[1]
X-ray of a left clavicle fracture
SpecialtyEmergency medicine
SymptomsPain, decreased ability to move the affected arm[1]
ComplicationsPneumothorax, injury to the nerves or blood vessels in the area, unpleasant appearance[2]
Usual onsetSudden[3]
Type... | Clavicle fracture | c0159658 | 2,575 | wikipedia | https://en.wikipedia.org/wiki/Clavicle_fracture | 2021-01-18T18:37:49 | {"icd-9": ["810"], "icd-10": ["S42.0"], "wikidata": ["Q1746068"]} |
Insulinoma is a type of pancreatic neuroendocrine tumor (pancreatic NET), which refers to a group of rare tumors that form in the hormone-making cells of the pancreas. Insulinomas, specifically, produce too much insulin, a hormone that reduces the level of sugar in the blood by helping it move into cells. As a re... | Insulinoma | c0021670 | 2,576 | gard | https://rarediseases.info.nih.gov/diseases/3010/insulinoma | 2021-01-18T17:59:46 | {"mesh": ["D007340"], "umls": ["C0021670"], "synonyms": []} |
Corneal dystrophy
Corneal dystrophy, Gelatinous drop-like
SpecialtyOphthalmology
Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea.[1][2][3]
## Contents
* 1 Signs and symptoms
... | Corneal dystrophy | c0010036 | 2,577 | wikipedia | https://en.wikipedia.org/wiki/Corneal_dystrophy | 2021-01-18T18:49:49 | {"mesh": ["D003317"], "umls": ["C0010036", "C0010035"], "orphanet": ["34533"], "wikidata": ["Q2044949"]} |
Axenfeld-Rieger syndrome is a group of disorders that mainly affects the development of the eye. Common eye symptoms include cornea defects and iris defects. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of ... | Axenfeld-Rieger syndrome | c0265341 | 2,578 | gard | https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome | 2021-01-18T18:01:54 | {"mesh": ["C535679"], "omim": ["602482", "180500", "601499"], "umls": ["C0265341"], "orphanet": ["782"], "synonyms": ["Rieger syndrome", "Iridogoniodysgenesis with somatic anomalies", "Goniodysgenesis hypodontia"]} |
Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac ... | Bosley-Salih-Alorainy syndrome | c1832216 | 2,579 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69737 | 2021-01-23T18:40:39 | {"mesh": ["C535397"], "omim": ["601536"], "umls": ["C1832216"], "icd-10": ["Q87.8"]} |
Autosomal inheritance is much rarer than X-linked (309300). Megalocornea is often found in the Marfan syndrome (154700).
HEENT \- Large cornea Inheritance \- Autosomal recessive much rarer than X-linked ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*... | MEGALOCORNEA | c0344530 | 2,580 | omim | https://www.omim.org/entry/249300 | 2019-09-22T16:25:29 | {"doid": ["0060305"], "mesh": ["C562829"], "omim": ["249300"]} |
Macroovalocytes are enlarged, oval-shaped erythrocytes (red blood cells). They are not seen in healthy blood, and are most commonly seen in megaloblastic anemia.[1] In most instances, the macroovalocyte morphology is due to megaloblastic erythropoiesis (Vitamin B-12 or folate deficiency) but may be seen with dyseryth... | Macroovalocyte | None | 2,581 | wikipedia | https://en.wikipedia.org/wiki/Macroovalocyte | 2021-01-18T19:05:47 | {"wikidata": ["Q6725490"]} |
Hydrocephalus-cleft palate-joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation, cleft palate, and stiff or "frozen" joints (contractures). Less than 20 cases of hydrocephalus-cleft palate-jo... | Hydrocephalus-cleft palate-joint contractures syndrome | c0220686 | 2,582 | gard | https://rarediseases.info.nih.gov/diseases/5642/hydrocephalus-cleft-palate-joint-contractures-syndrome | 2021-01-18T17:59:56 | {"mesh": ["C535332"], "omim": ["147800"], "umls": ["C0220686"], "orphanet": ["916"], "synonyms": ["Aase-Smith syndrome I", "Joint contractures with other abnormalities"]} |
Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder that affects peripheral nerves, causing the nerves to be highly sensitive to pressure. Symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity. While s... | Hereditary neuropathy with liability to pressure palsies | c0393814 | 2,583 | gard | https://rarediseases.info.nih.gov/diseases/5221/hereditary-neuropathy-with-liability-to-pressure-palsies | 2021-01-18T18:00:02 | {"mesh": ["C536965"], "omim": ["162500"], "umls": ["C0393814"], "orphanet": ["640"], "synonyms": ["HNPP", "Polyneuropathy, familial recurrent", "Tomaculous neuropathy"]} |
Lethal arthrogryposis with anterior horn cell disease
Other namesVuopala disease
Lethal arthrogryposis with anterior horn cell disease is inherited in an autosomal recessive manner
Lethal arthrogryposis with anterior horn cell disease (LAAHD) is an autosomal recessive genetic disorder characterized by reduce... | Lethal arthrogryposis with anterior horn cell disease | c2678471 | 2,584 | wikipedia | https://en.wikipedia.org/wiki/Lethal_arthrogryposis_with_anterior_horn_cell_disease | 2021-01-18T18:58:47 | {"mesh": ["C567502"], "umls": ["C2678471"], "orphanet": ["53696"], "wikidata": ["Q6533261"]} |
Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement. The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. Potassium aggravate... | Potassium aggravated myotonia | c0856123 | 2,585 | gard | https://rarediseases.info.nih.gov/diseases/4459/potassium-aggravated-myotonia | 2021-01-18T17:58:13 | {"omim": ["608390"], "orphanet": ["612"], "synonyms": ["Myotonia fluctuans", "Myotonia permanens", "Myotonia congenita, atypical", "Myotonia congenita, acetazolamide-responsive"]} |
A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.
*[v]: View this template
*[t]: Discuss this templa... | 6-phosphogluconate dehydrogenase deficiency | None | 2,586 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99135 | 2021-01-23T19:06:38 | {"icd-10": ["D55.1"]} |
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: "Greenstick fracture" – news · newspapers · books · scholar · JSTOR (August 2014) (Learn how and when to remove this tem... | Greenstick fracture | c0332716 | 2,587 | wikipedia | https://en.wikipedia.org/wiki/Greenstick_fracture | 2021-01-18T18:46:53 | {"umls": ["C0332716"], "wikidata": ["Q1552265"]} |
## Description
Hypertrichosis is defined as hair growth that is excessive for a particular site of the body or age of the patient and that is not hormone-dependent (summary by Fantauzzo et al., 2012).
### Genetic Heterogeneity of Congenital Generalized Hypertrichosis
HTC1 has been mapped to chromosome 8q. HTC... | HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE | c1840362 | 2,588 | omim | https://www.omim.org/entry/145701 | 2019-09-22T16:39:48 | {"doid": ["0111060"], "mesh": ["C536605"], "omim": ["145701"], "orphanet": ["1023", "2222"], "synonyms": ["Alternative titles", "AMBRAS SYNDROME", "HYPERTRICHOSIS, CONGENITAL GENERALIZED"]} |
Necrobiotic xanthogranuloma (NXG) is a rare, chronic form of non-Langerhans histiocytosis usually found in older adults. Xanthogranulomas are lesions made of immune cells known as a histiocytes. The term necrobiotic refers to the buildup of broken down collagen fibers that can be seen under a microscope. The typical ... | Necrobiotic xanthogranuloma | c1275339 | 2,589 | gard | https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma | 2021-01-18T17:58:47 | {"mesh": ["D058252"], "orphanet": ["158011"], "synonyms": ["NXG"]} |
Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
## Epidemiology
Due to lack of cli... | Monosomy 22q13.3 | c1853490 | 2,590 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652 | 2021-01-23T19:09:49 | {"gard": ["10130"], "mesh": ["C536801"], "omim": ["606232"], "umls": ["C1853490"], "icd-10": ["Q93.5"], "synonyms": ["22q13.3 deletion", "Phelan-McDermid syndrome"]} |
Encephalocraniocutaneous lipomatosis
Other namesHaberland syndrome,[1]
SpecialtyNeurology
Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes, and skin of the head and face.[2] It is characterized by unilateral subcutaneous and intracranial lipomas, alopecia, ... | Encephalocraniocutaneous lipomatosis | c0406612 | 2,591 | wikipedia | https://en.wikipedia.org/wiki/Encephalocraniocutaneous_lipomatosis | 2021-01-18T19:00:47 | {"gard": ["2108"], "mesh": ["C535736"], "umls": ["C0406612"], "icd-10": ["E88.2"], "orphanet": ["2396"], "wikidata": ["Q17540092"]} |
A number sign (#) is used with this entry because of evidence that X-linked deafness-1 (DFNX1) is caused by loss-of-function mutation in the PRPS1 gene (311850) on chromosome Xq22.
Loss-of-function PRPS1 mutations, resulting in decreased enzyme activity, can also cause X-linked recessive Charcot-Marie-Tooth dise... | DEAFNESS, X-LINKED 1 | c1844677 | 2,592 | omim | https://www.omim.org/entry/304500 | 2019-09-22T16:18:26 | {"doid": ["0050566"], "mesh": ["C564433"], "omim": ["304500"], "orphanet": ["90625"], "synonyms": ["X-linked isolated sensorineural hearing loss type DFN", "X-linked isolated sensorineural deafness type DFN", "Alternative titles", "X-linked isolated neurosensory hearing loss type DFN", "X-linked non-syndromic neurosens... |
Genetic disorder in Quarter Horses and draft horses
Equine polysaccharide storage myopathy (EPSM, PSSM, EPSSM) is an inheritable glycogen storage disease of horses that causes exertional rhabdomyolysis. It is currently known to affect the following breeds American Quarter Horses, American Paint Horses, Warmbloods, C... | Equine polysaccharide storage myopathy | c1319005 | 2,593 | wikipedia | https://en.wikipedia.org/wiki/Equine_polysaccharide_storage_myopathy | 2021-01-18T18:45:23 | {"wikidata": ["Q16992706"]} |
Subacute sclerosing panencephalitis (SSPE) a rare condition that is caused by a measles infection acquired earlier in life. Signs and symptoms of the condition primarily affect the central nervous system and often develop approximately 7 to 10 years after a person recovers from the measles. Affected people may initia... | Subacute sclerosing panencephalitis | c0038522 | 2,594 | gard | https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-panencephalitis | 2021-01-18T17:57:29 | {"mesh": ["D013344"], "omim": ["260470"], "umls": ["C0038522"], "orphanet": ["2806"], "synonyms": ["SSPE", "Dawson disease", "Dawson Encephalitis"]} |
Abortion in the Federated States of Micronesia is only legal if the abortion will save the woman's life.[1]
## History[edit]
Before the Federated States of Micronesia gained sovereignty in 1986, its laws followed the codes set in place by the Trust Territory of the Pacific Islands, meaning the territory legally obs... | Abortion in the Federated States of Micronesia | None | 2,595 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_the_Federated_States_of_Micronesia | 2021-01-18T18:52:04 | {"wikidata": ["Q30314241"]} |
A number sign (#) is used with this entry because of evidence that the phenotype is a contiguous gene deletion syndrome involving chromosome 3pter-p25.
Description
Characteristic features of the distal 3p- syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retarda... | CHROMOSOME 3pter-p25 DELETION SYNDROME | c0795806 | 2,596 | omim | https://www.omim.org/entry/613792 | 2019-09-22T15:57:32 | {"doid": ["0060417"], "mesh": ["C536804"], "omim": ["613792"], "orphanet": ["1620"], "synonyms": ["Telomeric monosomy 3p", "3p- SYNDROME", "Alternative titles", "Distal 3p deletion", "3p- syndrome", "Monosomy 3pter"]} |
Meesmann corneal dystrophy (MECD) is a rare genetic condition affecting the clear front covering of the eye (cornea). It is characterized by the development of multiple tiny round cysts in the outermost layer of the cornea (corneal epithelium). Over time, these cysts can break open (rupture) and cause irritation and ... | Meesmann corneal dystrophy | c0339277 | 2,597 | gard | https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy | 2021-01-18T17:59:11 | {"mesh": ["D053559"], "omim": ["122100"], "orphanet": ["98954"], "synonyms": ["Meesmann corneal epithelial dystrophy", "Corneal dystrophy, juvenile epithelial of Meesmann", "Juvenile hereditary epithelial dystrophy", "Meesman dystrophy"]} |
## Summary
### Clinical characteristics.
ZAP70-related combined immunodeficiency (ZAP70-related CID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections, diar... | ZAP70-Related Combined Immunodeficiency | None | 2,598 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK20221/ | 2021-01-18T20:47:57 | {"synonyms": []} |
Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were ... | Mesomelic dysplasia, Savarirayan type | c1854470 | 2,599 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85170 | 2021-01-23T17:39:38 | {"gard": ["10584"], "mesh": ["C565349"], "omim": ["605274"], "umls": ["C1854470"], "icd-10": ["Q78.8"], "synonyms": ["Mesomelic dysplasia with absent fibulas and triangular tibias", "Triangular tibia-fibular aplasia syndrome"]} |
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