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Spastic paraplegia type 49 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure a... | Spastic paraplegia type 49 | c3542549 | 3,200 | medlineplus | https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-49/ | 2021-01-27T08:24:34 | {"gard": ["13568"], "omim": ["615031"], "synonyms": []} |
Supravalvular aortic stenosis
SpecialtyMedical genetics
CausesWilliams syndrome
Diagnostic methodechocardiography or MRI
Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve and is least common type of aortic stenosis. It is often associated with othe... | Supravalvular aortic stenosis | c1305147 | 3,201 | wikipedia | https://en.wikipedia.org/wiki/Supravalvular_aortic_stenosis | 2021-01-18T18:36:17 | {"gard": ["743"], "mesh": ["D021921"], "umls": ["C1305147"], "orphanet": ["3193"], "wikidata": ["Q16874615"]} |
Nonsmall-cell lung carcinoma
Micrograph of a squamous carcinoma, a type of nonsmall-cell lung carcinoma, FNA specimen, Pap stain.
SpecialtyOncology
Nonsmall-cell lung carcinoma (NSCLC) is any type of epithelial lung cancer other than small-cell lung carcinoma (SCLC). NSCLC accounts for about 85% of all l... | Non-small-cell lung carcinoma | c0007131 | 3,202 | wikipedia | https://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma | 2021-01-18T19:10:48 | {"mesh": ["D002289"], "umls": ["C0007131"], "wikidata": ["Q3658562"]} |
Serrated polyposis syndrome
Other namesHyperplastic polyposis syndrome (former)
SpecialtyGastroenterology
SymptomsAsymptomatic
ComplicationsColorectal cancer (15-30%)[1]
Usual onset55 years of age (average)[2]
TypesDistal and proximal
CausesEnvironmental and genetic factors
Risk factorsSmoking, Ly... | Serrated polyposis syndrome | c4296896 | 3,203 | wikipedia | https://en.wikipedia.org/wiki/Serrated_polyposis_syndrome | 2021-01-18T18:29:04 | {"orphanet": ["157798"], "synonyms": ["Serrated polyposis"], "wikidata": ["Q55785530"]} |
Skin fragility syndrome
Other namesPlakophilin 1 deficiency
SpecialtyDermatology
Skin fragility syndrome (also known as "plakophilin 1 deficiency") is a cutaneous condition characterized by trauma-induced blisters and erosions.[1]
It is associated with PKP1.[2]
## See also[edit]
* List of conditions... | Skin fragility syndrome | c1858302 | 3,204 | wikipedia | https://en.wikipedia.org/wiki/Skin_fragility_syndrome | 2021-01-18T19:08:20 | {"gard": ["9705"], "mesh": ["C536183"], "umls": ["C1858302"], "orphanet": ["158668"], "wikidata": ["Q7535394"]} |
AL amyloidosis
Other namesPrimary systemic amyloidosis (PSA), primary amyloidosis
SpecialtyHematology
Amyloid light-chain (AL) amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis in the US.[1] The disease is caused when a person's antibody-producing cells do no... | AL amyloidosis | c0268381 | 3,205 | wikipedia | https://en.wikipedia.org/wiki/AL_amyloidosis | 2021-01-18T18:45:52 | {"gard": ["5797"], "mesh": ["D000075363", "C531616"], "umls": ["C0268381"], "icd-9": ["277.3"], "icd-10": ["E85"], "orphanet": ["85443"], "wikidata": ["Q4652470"]} |
For the gene HSN2, see HSN2.
Not to be confused with Hereditary motor and sensory neuropathy.
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article may be too technical for most readers to understan... | Hereditary sensory and autonomic neuropathy | c0027889 | 3,206 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_sensory_and_autonomic_neuropathy | 2021-01-18T19:09:49 | {"gard": ["12267", "12688"], "mesh": ["D009477"], "icd-9": ["356.2"], "orphanet": ["140471"], "wikidata": ["Q3702898"]} |
A number sign (#) is used with this entry because of evidence that auriculocondylar syndrome-3 (ARCND3) is caused by homozygous mutation in the EDN1 gene (131240) on chromosome 6p24. Heterozygous mutation in EDN1 causes isolated question mark ears (612798).
Description
Auriculocondylar syndrome (ARCND) is a rar... | AURICULOCONDYLAR SYNDROME 3 | c1865295 | 3,207 | omim | https://www.omim.org/entry/615706 | 2019-09-22T15:51:13 | {"mesh": ["C538270"], "omim": ["615706"], "orphanet": ["137888"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to age-related macular degeneration-15 (ARMD15) is conferred by variation in the C9 gene (120940) on chromosome 5p13.
For a phenotypic description and discussion of genetic heterogeneity of ARMD, see 603075.
Molecular Genetics
Seddon... | MACULAR DEGENERATION, AGE-RELATED, 15 | c3810042 | 3,208 | omim | https://www.omim.org/entry/615591 | 2019-09-22T15:51:33 | {"omim": ["615591"]} |
Human disease
Tuber cinereum hamartoma
Other namesHypothalamic hamartoma
A hypothalamic hamartoma (black arrows) on MRI
Tuber cinereum hamartoma is a benign tumor in which a disorganized collection of neurons and glia accumulate at the tuber cinereum of the hypothalamus on the floor of the third ventricle. ... | Tuber cinereum hamartoma | c0342418 | 3,209 | wikipedia | https://en.wikipedia.org/wiki/Tuber_cinereum_hamartoma | 2021-01-18T19:09:35 | {"gard": ["2934"], "mesh": ["C537158"], "umls": ["C0342418"], "orphanet": ["2113"], "wikidata": ["Q7850809"]} |
Leukemia cutis
SpecialtyDermatology
Leukemia cutis is the infiltration of neoplastic leukocytes or their precursors into the skin resulting in clinically identifiable cutaneous lesions.[1] This condition may be contrasted with leukemids, which are skin lesions that occur with leukemia, but which are not re... | Leukemia cutis | c0948976 | 3,210 | wikipedia | https://en.wikipedia.org/wiki/Leukemia_cutis | 2021-01-18T18:46:26 | {"umls": ["C0948976"], "wikidata": ["Q6534501"]} |
A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or devel... | Familial mitral valve prolapse | c0340364 | 3,211 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=741 | 2021-01-23T18:48:31 | {"gard": ["3687"], "omim": ["157700", "607829", "610840"], "umls": ["C0340364"], "icd-10": ["I34.1"]} |
Urogenital tuberculosis
SpecialtyInfectious disease
Urogenital tuberculosis is a form of tuberculosis that affects the urogenital system.
## Contents
* 1 Symptoms
* 1.1 Other signs
* 1.2 Complications
* 2 Pathogenesis
* 3 Epidemiology
* 4 References
## Symptoms[edit]
* Persistent cystitis... | Urogenital tuberculosis | c0041333 | 3,212 | wikipedia | https://en.wikipedia.org/wiki/Urogenital_tuberculosis | 2021-01-18T18:51:54 | {"mesh": ["D014401"], "umls": ["C0041333"], "wikidata": ["Q2500965"]} |
Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit... | Secondary short bowel syndrome | None | 3,213 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95427 | 2021-01-23T17:17:38 | {"icd-10": ["K91.2"]} |
A rare disorder characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The ... | Pacman dysplasia | c1833676 | 3,214 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1952 | 2021-01-23T18:41:10 | {"gard": ["4189"], "mesh": ["C538095"], "omim": ["167220"], "umls": ["C1833676"], "icd-10": ["Q77.8"], "synonyms": ["Epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome"]} |
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
## Epidemiology
Prevalence is unknown.
## Etiology
The disorder is caused by mutations in the COL10A1 (6q21-q22) gene encoding the collagen alpha-1(X) chain.
... | Metaphyseal chondrodysplasia, Schmid type | c0265289 | 3,215 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=174 | 2021-01-23T17:36:27 | {"gard": ["7029"], "mesh": ["C537352"], "omim": ["156500"], "umls": ["C0265289"], "icd-10": ["Q78.5"]} |
## Summary
### Clinical characteristics.
X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity can... | X-Linked Hyper IgM Syndrome | c0398689 | 3,216 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1402/ | 2021-01-18T20:48:28 | {"mesh": ["D053307"], "synonyms": ["HIGM1", "X-Linked Hyper-IgM Immunodeficiency (XHIGM)"]} |
"Goodpasture" redirects here. For other uses, see Goodpasture (disambiguation).
Rare autoimmune disease
Goodpasture syndrome
Other namesGoodpasture’s disease, antiglomerular basement antibody disease, anti-GBM disease
Micrograph of a crescentic glomerulonephritis that was shown to be antiglomerular basement mem... | Goodpasture syndrome | c0403529 | 3,217 | wikipedia | https://en.wikipedia.org/wiki/Goodpasture_syndrome | 2021-01-18T18:50:21 | {"gard": ["2551"], "mesh": ["D019867"], "umls": ["C0403529"], "orphanet": ["375"], "wikidata": ["Q1345792"]} |
A number sign (#) is used with this entry because of evidence that achondrogenesis type IB (ACG1B) is caused by homozygous or compound heterozygous mutation in the DTDST gene (606718) on chromosome 5q32.
Description
The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia... | ACHONDROGENESIS, TYPE IB | c0265274 | 3,218 | omim | https://www.omim.org/entry/600972 | 2019-09-22T16:15:39 | {"doid": ["0080055"], "mesh": ["C536016"], "omim": ["600972"], "orphanet": ["93298", "932"], "synonyms": ["Alternative titles", "ACHONDROGENESIS, FRACCARO TYPE"], "genereviews": ["NBK1516"]} |
A cat with the genetic deformity radial hypoplaisia or radial aplaysia while resting, showing twisted forelimbs
A squitten is a cat with a genetic deformity which causes a partial formation or complete absence of the radius bone making it resemble a squirrel. These cats should be kept indoors and seen to by speciali... | Squitten | None | 3,219 | wikipedia | https://en.wikipedia.org/wiki/Squitten | 2021-01-18T19:01:03 | {"wikidata": ["Q7582359"]} |
A number sign (#) is used with this entry because Rubinstein-Taybi syndrome-2 (RSTS2) is caused by heterozygous mutation in the EP300 gene (602700) on chromosome 22q13. Most, if not all, mutations occur de novo.
Description
Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized... | RUBINSTEIN-TAYBI SYNDROME 2 | c0035934 | 3,220 | omim | https://www.omim.org/entry/613684 | 2019-09-22T15:57:51 | {"doid": ["1933"], "mesh": ["D012415"], "omim": ["613684"], "orphanet": ["353284", "783"], "synonyms": [], "genereviews": ["NBK1526"]} |
Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation that primarily affects the respiratory tract (including the lungs and airways) and the kidneys. This disorder is formerly known as Wegener granulomatosis. A characteristic feature of GPA is inflammation of blood vessels (vasculitis), parti... | Granulomatosis with polyangiitis | c3495801 | 3,221 | medlineplus | https://medlineplus.gov/genetics/condition/granulomatosis-with-polyangiitis/ | 2021-01-27T08:25:07 | {"gard": ["7880"], "mesh": ["D014890"], "omim": ["608710"], "synonyms": []} |
A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus, or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic ne... | Extensive peripapillary myelinated nerve fibers | None | 3,222 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=440724 | 2021-01-23T18:33:34 | {} |
Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis,... | BOR syndrome | c0265234 | 3,223 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=107 | 2021-01-23T18:40:30 | {"gard": ["10147"], "mesh": ["D019280"], "omim": ["113650", "610896"], "umls": ["C0265234"], "icd-10": ["Q87.8"], "synonyms": ["Branchiootorenal syndrome"]} |
Chromosomal anomaly
49,XXXXYsyndrome
SpecialtyMedical genetics
49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males.[1][2][3] This syndrome is the result of maternal non-disjunction during both meiosis I and II.[4] It was f... | 49,XXXXY | c0265499 | 3,224 | wikipedia | https://en.wikipedia.org/wiki/49,XXXXY | 2021-01-18T18:38:24 | {"gard": ["5679"], "mesh": ["D007713"], "umls": ["C0265499"], "icd-9": ["758.81"], "orphanet": ["96264"], "wikidata": ["Q4638720"]} |
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Other namesSCOT deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency is inherited via autosomal recessive manner
Succinyl-CoA:3-oxoacid CoA transferase deficiency is an inborn error of ketone body utilization. Succinyl-CoA:3-oxoacid CoA transferas... | Succinyl-CoA:3-oxoacid CoA transferase deficiency | c0342792 | 3,225 | wikipedia | https://en.wikipedia.org/wiki/Succinyl-CoA:3-oxoacid_CoA_transferase_deficiency | 2021-01-18T18:52:15 | {"gard": ["4774"], "mesh": ["C537527"], "umls": ["C0342792"], "orphanet": ["832"], "wikidata": ["Q7632698"]} |
A number sign (#) is used with this entry because primary ciliary dyskinesia-29 (CILD29) is caused by homozygous or compound heterozygous mutation in the CCNO gene (607752) on chromosome 5q11.
Description
Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of ... | CILIARY DYSKINESIA, PRIMARY, 29 | c4014534 | 3,226 | omim | https://www.omim.org/entry/615872 | 2019-09-22T15:50:46 | {"doid": ["0110600"], "omim": ["615872", "244400"], "orphanet": ["244"], "synonyms": ["Alternative titles", "CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS", "PCD"], "genereviews": ["NBK1122"]} |
A number sign (#) is used with this entry because Brown-Vialetto-Van Laere syndrome-1 (BVVLS1), a form of progressive bulbar palsy with sensorineural deafness, is caused by homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3; 613350) on chromosome 20p13.
Mutations in the SLC52A3 gene also resu... | BROWN-VIALETTO-VAN LAERE SYNDROME 1 | c0796274 | 3,227 | omim | https://www.omim.org/entry/211530 | 2019-09-22T16:30:19 | {"doid": ["0050694"], "mesh": ["C537111"], "omim": ["211530"], "orphanet": ["97229"], "synonyms": ["Alternative titles", "BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS", "PONTOBULBAR PALSY WITH DEAFNESS"], "genereviews": ["NBK299312"]} |
Not to be confused with Erythema annulare centrifugum.
Palpable purpura is a condition where purpura, which constitutes visible non-blanching hemorrhages, are raised and able to be touched or felt upon palpation.[1] It indicates some sort of vasculitis secondary to a serious disease.[1][2]
## Contents
* 1 Causes... | Palpable purpura | c1368065 | 3,228 | wikipedia | https://en.wikipedia.org/wiki/Palpable_purpura | 2021-01-18T18:52:15 | {"mesh": ["C537256"], "umls": ["C1368065"], "wikidata": ["Q12738740"]} |
Types of FGM
Female genital mutilation (FGM), also known as female circumcision or female genital cutting, includes any procedure involving the removal or injury of part or all of external female genitalia for non-medical reasons.[1] While the practice is most common in Africa, Asia, and the Middle East, FGM is ... | Female genital mutilation in the United States | None | 3,229 | wikipedia | https://en.wikipedia.org/wiki/Female_genital_mutilation_in_the_United_States | 2021-01-18T19:08:14 | {"wikidata": ["Q18354996"]} |
A number sign (#) is used with this entry because spinal muscular atrophy type III (SMA3) is caused by homozygous or compound heterozygous mutation in the SMN1 gene (600354) on chromosome 5q13.
Description
SMA is an autosomal recessive neuromuscular disorder characterized by progressive proximal muscle weakness... | SPINAL MUSCULAR ATROPHY, TYPE III | c0152109 | 3,230 | omim | https://www.omim.org/entry/253400 | 2019-09-22T16:24:49 | {"doid": ["12376"], "mesh": ["D014897"], "omim": ["253400"], "icd-9": ["335.11"], "orphanet": ["70", "83419"], "synonyms": ["SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM", "Alternative titles", "SMA III", "SMA", "MUSCULAR ATROPHY, JUVENILE", "KUGELBERG-WELANDER SYNDROME"], "genereviews": ["NBK1352"]} |
Blepharitis
An infant with mild blepharitis on his right side
Pronunciation
* /blɛfəˈraɪtɪs/ BLEF-ər-EYE-tis
SpecialtyOphthalmology
Symptomscrusty eyelids
Blepharitis is one of the most common ocular conditions characterized by inflammation, scaling, reddening, and crusting of the eyelid. This co... | Blepharitis | c0005741 | 3,231 | wikipedia | https://en.wikipedia.org/wiki/Blepharitis | 2021-01-18T18:49:42 | {"mesh": ["D001762"], "umls": ["C0339063", "C0005741", "C0155181"], "wikidata": ["Q845698"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (June 2014) (Learn how and when to remove this template message)
Acute eosinophilic leuk... | Acute eosinophilic leukemia | c0023439 | 3,232 | wikipedia | https://en.wikipedia.org/wiki/Acute_eosinophilic_leukemia | 2021-01-18T19:10:38 | {"mesh": ["D015472"], "wikidata": ["Q4677921"]} |
## Clinical Features
Bangstad et al. (1989) described 2 sibs, a 26-year-old male and his 16-year-old sister, born of nonconsanguineous Norwegian parents, who had primordial bird-headed dwarfism, progressive ataxia, goiter, primary gonadal insufficiency, and insulin-resistant diabetes mellitus. Plasma concentrat... | BANGSTAD SYNDROME | c0342284 | 3,233 | omim | https://www.omim.org/entry/210740 | 2019-09-22T16:30:23 | {"mesh": ["C537902"], "omim": ["210740"], "orphanet": ["1227"], "synonyms": ["Alternative titles", "BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY"]} |
Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.
## Epidemiology
Prevalence is unknown. A... | Iatrogenic botulism | c4288922 | 3,234 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254509 | 2021-01-23T18:26:12 | {"icd-10": ["A05.1"], "synonyms": ["Inadvertent botulism"]} |
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: "Sertoli cell nodule" – news · newspapers · books · scholar · JSTOR (November 2018) (Learn how and when to remove this t... | Sertoli cell nodule | None | 3,235 | wikipedia | https://en.wikipedia.org/wiki/Sertoli_cell_nodule | 2021-01-18T18:59:39 | {"wikidata": ["Q7455473"]} |
Mucinous cystadenoma
Micrograph showing a mucinous cystadenoma of the ovary. H&E stain.
SpecialtyOncology
Mucinous cystadenoma is a benign cystic tumor lined by a mucinous epithelium. It is a type of cystic adenoma (cystadenoma).
Mucinous cystadenomata may arise in a number of locations; however, mucinous c... | Mucinous cystadenoma | c0010635 | 3,236 | wikipedia | https://en.wikipedia.org/wiki/Mucinous_cystadenoma | 2021-01-18T19:00:52 | {"mesh": ["D018291"], "umls": ["C0010635"], "icd-10": ["C56.9"], "wikidata": ["Q6931143"]} |
Thyroid nodule
Ultrasound artifacts showing a "comet tail" from a colloid nodule indicate a benign nodule
SpecialtyENT surgery, oncology
Thyroid nodules are nodules (raised areas of tissue or fluid) which commonly arise within an otherwise normal thyroid gland.[1] They may be hyperplastic or tumorous, bu... | Thyroid nodule | c0040137 | 3,237 | wikipedia | https://en.wikipedia.org/wiki/Thyroid_nodule | 2021-01-18T18:52:27 | {"mesh": ["D016606"], "icd-9": ["241.0"], "icd-10": ["E05.1", "E05.2", "E04.1"], "wikidata": ["Q53829"]} |
Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.
*[v]: View this template
*[t]: Discuss this template
... | Polyrrhinia | c4274730 | 3,238 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141091 | 2021-01-23T17:53:56 | {"icd-10": ["Q30.8"], "synonyms": ["Double nose", "Polyrhinia"]} |
Mental disorder
"Self-amputation" redirects here. See also Autotomy and Amputation § Self-amputation.
"BIID" redirects here. For the organisation, see British Institute of Interior Design.
Body integrity dysphoria
Other namesBody integrity identity disorder
SpecialtyPsychiatry, Clinical Psychology
SymptomsDe... | Body integrity dysphoria | c4546282 | 3,239 | wikipedia | https://en.wikipedia.org/wiki/Body_integrity_dysphoria | 2021-01-18T18:49:06 | {"wikidata": ["Q890069"]} |
Pgp-1 glycoprotein, as it is termed in the mouse, was first demonstrated in that species. It is a polymorphic cell-surface antigen present in many tissues and is coded by a gene on mouse chromosome 2. Isacke et al. (1986) identified and characterized the homologous protein in man. In both species, it is an abundant p... | PHOSPHOGLYCOPROTEIN 1 | c1868352 | 3,240 | omim | https://www.omim.org/entry/172290 | 2019-09-22T16:36:17 | {"omim": ["172290"]} |
For a phenotypic description and a discussion of genetic heterogeneity of essential tremor, see ETM1 (190300).
Mapping
Higgins et al. (1997) reported linkage of an essential tremor locus on chromosome 2 in a large American family of Czech descent with dominantly inherited 'pure' essential tremor. They symbolized th... | TREMOR, HEREDITARY ESSENTIAL, 2 | c1865810 | 3,241 | omim | https://www.omim.org/entry/602134 | 2019-09-22T16:13:55 | {"mesh": ["C536546"], "omim": ["602134"]} |
Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.
## Epidemiology
MHF is endemic to Central Africa and is generally recognized in sporadic ... | Marburg hemorrhagic fever | c0024788 | 3,242 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99826 | 2021-01-23T18:08:08 | {"gard": ["9444"], "mesh": ["D008379"], "umls": ["C0024788"], "icd-10": ["A98.3"], "synonyms": ["Green monkey disease", "MHF", "Marburg virus disease"]} |
Perlman syndrome
Other namesNephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
Perlman syndrome has an autosomal recessive pattern of inheritance.
SpecialtyOncology
Perlman syndrome (PS) (also called renal hamartomas, nephroblastomatosis and fetal gigantism) is a rare overgrowth disorder pre... | Perlman syndrome | c0796113 | 3,243 | wikipedia | https://en.wikipedia.org/wiki/Perlman_syndrome | 2021-01-18T18:40:27 | {"gard": ["3936"], "mesh": ["C536399"], "umls": ["C0796113"], "orphanet": ["2849"], "wikidata": ["Q7169165"]} |
Endodermal sinus tumor
Other namesYolk sac tumor (YST)
Micrograph showing the yolk sac component of a mixed germ cell tumour. H&E stain.
SpecialtyOncology
Endodermal sinus tumor (EST) is a member of the germ cell tumor group of cancers.[1] It is the most common testicular tumor in children under 3,[2] ... | Endodermal sinus tumor | c0014145 | 3,244 | wikipedia | https://en.wikipedia.org/wiki/Endodermal_sinus_tumor | 2021-01-18T18:57:55 | {"mesh": ["D018240"], "umls": ["C0014145"], "orphanet": ["876"], "wikidata": ["Q3542021"]} |
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
## Epidemiology
OPHN1 syndrome is very rare. To date, up to 12 families have been reported.
... | X-linked intellectual disability-cerebellar hypoplasia syndrome | c1845366 | 3,245 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137831 | 2021-01-23T18:13:05 | {"gard": ["9947"], "mesh": ["C537456"], "omim": ["300486"], "umls": ["C1845366"], "icd-10": ["Q04.3"], "synonyms": ["OPHN1 syndrome", "Oligophrenin-1 syndrome"]} |
Carotidynia
Drawing from Gray's anatomy with blue arrow showing the bifurcation area which is painful in Carotidynia.
Carotidynia is a syndrome characterized by unilateral (one-sided) tenderness of the carotid artery, near the bifurcation. It was first described in 1927 by Temple Fay.[1] The most common cause ... | Carotidynia | c0238902 | 3,246 | wikipedia | https://en.wikipedia.org/wiki/Carotidynia | 2021-01-18T18:34:57 | {"gard": ["10369"], "umls": ["C0238902"], "wikidata": ["Q5045550"]} |
A number sign (#) is used with this entry because autosomal dominant thrombophilia due to protein C deficiency (THPH3) is caused by heterozygous mutation in the PROC gene (612283) on chromosome 2q14.
See also autosomal recessive thrombophilia due to protein C deficiency (THPH4; 612304), a more severe disorder ca... | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT | c2930896 | 3,247 | omim | https://www.omim.org/entry/176860 | 2019-09-22T16:35:41 | {"doid": ["3756"], "mesh": ["C535424"], "omim": ["176860"], "orphanet": ["745"], "synonyms": ["Alternative titles", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "PROC DEFICIENCY, AUTOSOMAL DOMINANT"]} |
Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous p... | Bone dysplasia, lethal Holmgren type | c1859407 | 3,248 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1842 | 2021-01-23T18:43:55 | {"gard": ["922"], "mesh": ["C565896"], "omim": ["211120"], "umls": ["C1859407"], "icd-10": ["Q77.8"], "synonyms": ["Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type"]} |
Kajii et al. (1991) described a 'new' genetic polymorphism of the human platelet detected by 2-D polyacrylamide gel electrophoresis followed by silver-staining. The polymorphic polypeptide had a molecular weight of 34 kD and an isoelectric point of 4.7-4.8. Three different electrophoretic types were identified: 1-1, ... | THROMBOCYTE B | None | 3,249 | omim | https://www.omim.org/entry/187940 | 2019-09-22T16:32:41 | {"omim": ["187940"]} |
Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.
## Clinical description
The codon 102 mutation is the... | Gerstmann-Straussler-Scheinker syndrome | c0017495 | 3,250 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=356 | 2021-01-23T18:41:48 | {"gard": ["7690"], "mesh": ["D016098"], "omim": ["137440"], "umls": ["C0017495"], "icd-10": ["A81.8"], "synonyms": ["Subacute spongiform encephalopathy, Gerstmann-Straussler type"]} |
A number sign (#) is used with this entry because of evidence that isolated microphthalmia-8 (MCOP8) is caused by homozygous mutation in the ALDH1A3 gene (600463) on chromosome 15q26.
For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).
Clini... | MICROPHTHALMIA, ISOLATED 8 | c1855052 | 3,251 | omim | https://www.omim.org/entry/615113 | 2019-09-22T15:53:08 | {"doid": ["0060841"], "mesh": ["C565377"], "omim": ["251600", "615113"], "orphanet": ["2542"], "synonyms": ["Isolated anophthalmia-microphthalmia syndrome", "MAC spectrum", "Microphthalmia-anophthalmia-coloboma spectrum"]} |
Amino acid transport disorder
SpecialtyNephrology
Amino acid transport disorders are medical conditions associated with a failure of amino acids to be absorbed from the kidney or intestine.
An example is Hartnup disease.
## Reference[edit]
## External links[edit]
Classification
D
* ICD-10: E72.0
* IC... | Amino acid transport disorder | c0268641 | 3,252 | wikipedia | https://en.wikipedia.org/wiki/Amino_acid_transport_disorder | 2021-01-18T19:10:35 | {"mesh": ["D020157"], "umls": ["C0268641"], "icd-9": ["270.0", "270"], "icd-10": ["E72.0"], "orphanet": ["79166"], "wikidata": ["Q471778"]} |
A number sign (#) is used with this entry because susceptibility to type 2 diabetes (T2D) can be conferred by homozygosity for a nonsense variant in the TBC1D4 gene (612465) on chromosome 13q22.
For a phenotypic description and a discussion of genetic heterogeneity of noninsulin-dependent diabetes mellitus (NIDD... | DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5 | c4015183 | 3,253 | omim | https://www.omim.org/entry/616087 | 2019-09-22T15:49:58 | {"omim": ["616087"]} |
Human disease
Iron overload
Other namesHaemochromatosis or Hemochromatosis
Micrograph of liver biopsy showing iron deposits due to haemosiderosis. Iron stain.
SpecialtyHematology
Iron overload or hemochromatosis indicates accumulation of iron in the body from any cause. The most important causes are hered... | Iron overload | c0282193 | 3,254 | wikipedia | https://en.wikipedia.org/wiki/Iron_overload | 2021-01-18T18:39:00 | {"mesh": ["D019190"], "icd-9": ["275.03"], "icd-10": ["R79.0"], "wikidata": ["Q2025687"]} |
For a phenotypic description and a discussion of genetic heterogeneity of essential hypertension, see 145500.
Mapping
Gong et al. (2003) genotyped 94 members of a 387-member Chinese kindred with essential hypertension. An additional 32 Chinese nuclear families with essential hypertension were also recruited. Ge... | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4 | c1837479 | 3,255 | omim | https://www.omim.org/entry/608742 | 2019-09-22T16:07:18 | {"omim": ["608742"], "synonyms": ["Alternative titles", "HYT4"]} |
Dog with flea allergy dermatitis and secondary folliculitis
Flea allergy dermatitis (FAD) is an eczematous itchy skin disease of dogs and cats. For both of these domestic species, flea allergy dermatitis is the most common cause of skin disease. Affected animals develop allergic reactions to chemicals in flea saliva... | Flea allergy dermatitis | c3670841 | 3,256 | wikipedia | https://en.wikipedia.org/wiki/Flea_allergy_dermatitis | 2021-01-18T19:06:01 | {"wikidata": ["Q656339"]} |
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which re... | Hereditary hypotrichosis with recurrent skin vesicles | c2751292 | 3,257 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217407 | 2021-01-23T17:57:41 | {"mesh": ["C567751"], "omim": ["613102"]} |
## Description
Hypertrophic cardiomyopathy (CMH) is characterized by unexplained cardiac hypertrophy: thickening of the myocardial wall in the absence of any other identifiable cause for left ventricular hypertrophy such as systemic hypertension or valvular heart disease. Myocyte hypertrophy, disarray, and fibrosis... | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21 | c3553442 | 3,258 | omim | https://www.omim.org/entry/614676 | 2019-09-22T15:54:34 | {"omim": ["614676"]} |
Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestati... | Congenital portosystemic shunt | c1290495 | 3,259 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=480531 | 2021-01-23T17:01:33 | {"synonyms": ["Congenital portosystemic venous fistula"]} |
Fetal and neonatal alloimmune blood condition
Not to be confused with Hemorrhagic disease of the newborn.
Hemolytic disease of the newborn
Other namesHDN
SpecialtyPediatrics, Immunohaematology
Complicationsheart failure, splenomegaly
Hemolytic disease of the newborn, also known as hemolytic disease of th... | Hemolytic disease of the newborn | c0014761 | 3,260 | wikipedia | https://en.wikipedia.org/wiki/Hemolytic_disease_of_the_newborn | 2021-01-18T18:35:50 | {"mesh": ["D004899"], "umls": ["C0014761"], "orphanet": ["275938"], "wikidata": ["Q743545"]} |
Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. Common features include extra fingers and/or toes (polydactyly), extra skin between the fingers or toes (syndactyly), an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of th... | Pallister-Hall syndrome | c0265220 | 3,261 | gard | https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome | 2021-01-18T17:58:28 | {"mesh": ["D054975"], "omim": ["146510"], "umls": ["C0265220"], "orphanet": ["672"], "synonyms": ["PHS", "Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly", "Pallister Hall syndrome"]} |
## Clinical Features
Morris and Augsburger (1977) reported a 4-generation kindred with teeth resembling those in dentin dysplasia type I (125400), also known as radicular dentin dysplasia. The long bones, as well as the maxillary and mandibular alveoli, were more dense than normal, with narrow or occluded marrow sp... | DENTIN DYSPLASIA WITH SCLEROTIC BONES | c1852201 | 3,262 | omim | https://www.omim.org/entry/125440 | 2019-09-22T16:42:32 | {"mesh": ["C538213"], "omim": ["125440"], "orphanet": ["99792"]} |
Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
## Epidemiology
FBP deficiency birth prevalence has been estimated at 1/147,575 in ... | Fructose-1,6-bisphosphatase deficiency | c0016756 | 3,263 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=348 | 2021-01-23T18:36:07 | {"gard": ["2400"], "mesh": ["D015319"], "omim": ["229700"], "umls": ["C0016756"], "icd-10": ["E74.1"], "synonyms": ["FBPase deficiency", "Fructose-1,6-diphosphatase deficiency"]} |
A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical ... | Isolated congenital nasal pyriform aperture stenosis | None | 3,264 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=162516 | 2021-01-23T17:27:45 | {"icd-10": ["Q30.8"], "synonyms": ["Isolated apertura pyriformis stenosis", "Isolated nasal pyriform aperture hypoplasia"]} |
Pigmentation disorder
SpecialtyDermatology
Pigmentation disorders are disturbances of human skin color, either loss or reduction, which may be related to loss of melanocytes or the inability of melanocytes to produce melanin or transport melanosomes correctly.[1]
## References[edit]
1. ^ James, William; Be... | Pigmentation disorder | c0375489 | 3,265 | wikipedia | https://en.wikipedia.org/wiki/Pigmentation_disorder | 2021-01-18T18:39:46 | {"mesh": ["D010859"], "umls": ["C0375489"], "icd-10": ["L81"], "orphanet": ["79374"], "wikidata": ["Q7193408"]} |
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as invo... | Carney complex-trismus-pseudocamptodactyly syndrome | c1837245 | 3,266 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319340 | 2021-01-23T18:46:29 | {"mesh": ["C563845"], "omim": ["608837"], "umls": ["C1837245"], "icd-10": ["Q68.8"], "synonyms": ["Carney complex variant"]} |
## Summary
### Clinical characteristics.
AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves... | AP-4-Associated Hereditary Spastic Paraplegia | None | 3,267 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK535153/ | 2021-01-18T21:45:14 | {"synonyms": ["Adaptor Protein Complex 4 Deficiency (AP-4 Deficiency)", "AP-4-Associated HSP", "AP-4 Deficiency Syndrome"]} |
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome XVI (OFD16) is caused by homozygous or compound heterozygous mutation in the TMEM107 gene (616183) on chromosome 17p13.
Mutation in the TMEM107 gene can also cause Meckel syndrome-13 (MKS13) and Joubert syndrome-29 (JBTS29); ... | OROFACIODIGITAL SYNDROME XVI | c4539729 | 3,268 | omim | https://www.omim.org/entry/617563 | 2019-09-22T15:45:34 | {"omim": ["617563"], "synonyms": ["Alternative titles", "OFDS XVI", "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI"]} |
Maydl's hernia (Hernia-in-W) is a rare type of hernia and may be lethal if undiagnosed. The hernial sac contains two loops of bowel with another loop of bowel being intra-abdominal. A loop of bowel in the form of 'W lies in the hernial sac and the centre portion of the 'W loop may become strangulated, either alone or... | Maydl's hernia | None | 3,269 | wikipedia | https://en.wikipedia.org/wiki/Maydl%27s_hernia | 2021-01-18T19:03:33 | {"wikidata": ["Q6797036"]} |
Female foeticide in India (Hindi: भ्रूण हत्या, romanized: bhrūṇ-hatyā, lit. 'foeticide') is the abortion of a female foetus outside of legal methods. The natural sex ratio is assumed to be between 103 and 107, and any number above it is considered as suggestive of female foeticide. According to the decennial Indian c... | Female foeticide in India | None | 3,270 | wikipedia | https://en.wikipedia.org/wiki/Female_foeticide_in_India | 2021-01-18T19:06:27 | {"wikidata": ["Q5442759"]} |
2q23.1 microdeletion syndrome is a rare chromosome disorder. Symptoms may include seizures, moderate to severe learning problems, speech delays, behavior problems, trouble sleeping, and developmental delays (learn to crawl, sit or walk later than other babies). Children affected by 2q23.1 microdeletion syndrome m... | 2q23.1 microdeletion syndrome | c4304532 | 3,271 | gard | https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome | 2021-01-18T18:02:25 | {"orphanet": ["228402"], "synonyms": ["Chromosome 2q23.1 microdeletion syndrome", "Monosomy 2q23.1", "Del(2)(q23.1)", "Pseudo-Angelman syndrome"]} |
A bifid nose is a relatively uncommon malformation that is characterized by the nose being divided into two parts. There is a large degree of variability in the severity of the condition, ranging from a minimally noticeable groove down the center of the nasal tip to a complete clefting of the underlying bones and car... | Bifid nose | c0221363 | 3,272 | gard | https://rarediseases.info.nih.gov/diseases/884/bifid-nose | 2021-01-18T18:01:48 | {"mesh": ["C535441"], "omim": ["210400", "109740", "608980"], "umls": ["C0221363"], "orphanet": ["2695"], "synonyms": ["Median fissure of nose", "Nose, median cleft of"]} |
A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no... | Pancreatic colipase deficiency | c0268241 | 3,273 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309108 | 2021-01-23T18:04:00 | {"omim": ["614338"], "umls": ["C0268241"], "icd-10": ["K90.3"]} |
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vert... | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | c3553958 | 3,274 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99646 | 2021-01-23T17:36:21 | {"omim": ["614875"]} |
Myelolipoma
An adrenal myelolipoma
SpecialtyOncology
Myelolipoma (myelo-, from the ancient greek μυελός, marrow; lipo, meaning of, or pertaining to, fat; -oma, meaning tumor or mass) is a benign tumor-like lesion composed of mature adipose (fat) tissue and haematopoietic (blood-forming) elements in various p... | Myelolipoma | c0206635 | 3,275 | wikipedia | https://en.wikipedia.org/wiki/Myelolipoma | 2021-01-18T18:33:00 | {"mesh": ["D018209"], "umls": ["C0206635"], "icd-10": ["D17"], "wikidata": ["Q1956552"]} |
Coolie itch
SpecialtyDermatology
Coolie itch is a cutaneous condition caused by Rhizoglyphus parasiticus, characterized by an intense pruritus. It is found in India on tea plantations and causes sore feet.[1]:454
Rhizoglyphus parasiticus is a type of mite.[2]
## See also[edit]
* Copra itch
* Skin le... | Coolie itch | None | 3,276 | wikipedia | https://en.wikipedia.org/wiki/Coolie_itch | 2021-01-18T18:57:17 | {"wikidata": ["Q4036526"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
Hirschhorn et al. (2001) analyzed genomewide scans in 4 populations using a variance-components method, using stature as a quantitative trait locus, and found strong evidence for linkage to chr... | STATURE QUANTITATIVE TRAIT LOCUS 4 | c1853474 | 3,277 | omim | https://www.omim.org/entry/606258 | 2019-09-22T16:10:31 | {"omim": ["606258"]} |
## Description
The electrocardiographic (ECG) QT interval, a measure of cardiac repolarization, is a genetically influenced quantitative trait with estimated heritability of approximately 30% (Arking et al., 2006). Very long or short QT intervals occur in a heterogeneous collection of mendelian disorders, the vario... | QT INTERVAL, VARIATION IN | c1857828 | 3,278 | omim | https://www.omim.org/entry/610141 | 2019-09-22T16:05:01 | {"omim": ["610141"]} |
A number sign (#) is used with this entry because of evidence that the Revesz syndrome is caused by heterozygous mutation in the TINF2 gene (604319) on chromosome 14q12.
For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).
Clinical Features
Revesz et al. (1992) reported the case... | REVESZ SYNDROME | c1327916 | 3,279 | omim | https://www.omim.org/entry/268130 | 2019-09-22T16:22:43 | {"doid": ["0070026"], "mesh": ["C538371"], "omim": ["268130"], "orphanet": ["3088"], "synonyms": ["Alternative titles", "DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5", "EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE"]} |
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: "Very long-chain acyl-coenzyme A dehydrogenase deficiency" – news · newspapers · books · scholar · JSTOR (March 2017) (L... | Very long-chain acyl-coenzyme A dehydrogenase deficiency | c3887523 | 3,280 | wikipedia | https://en.wikipedia.org/wiki/Very_long-chain_acyl-coenzyme_A_dehydrogenase_deficiency | 2021-01-18T18:34:47 | {"gard": ["5508"], "mesh": ["C536353"], "umls": ["C3887523"], "icd-9": ["277.85"], "orphanet": ["26793"], "wikidata": ["Q7923095"]} |
Most cases are sporadic. Some families have affected relatives, suggesting a complex genetic etiology.
Bermejo-Sanchez et al. (2011) described the epidemiology of congenital amelia using data gathered from 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveil... | AMELIA AND TERMINAL TRANSVERSE HEMIMELIA | c1863014 | 3,281 | omim | https://www.omim.org/entry/104400 | 2019-09-22T16:45:16 | {"mesh": ["C566294"], "omim": ["104400"]} |
A number sign (#) is used with this entry because spherocytosis type 4 (SPH4) is caused by heterozygous mutation in the band 3 gene (SLC4A1, EPB3; 109270) on chromosome 17q21.
For a general description and a discussion of genetic heterogeneity of spherocytosis, see SPH1 (182900).
Clinical Features
Prchal et al. (1... | SPHEROCYTOSIS, TYPE 4 | c0221409 | 3,282 | omim | https://www.omim.org/entry/612653 | 2019-09-22T16:00:52 | {"doid": ["0110919"], "mesh": ["C536356"], "omim": ["612653"], "orphanet": ["822"], "synonyms": ["Alternative titles", "SPHEROCYTOSIS, HEREDITARY, 4"]} |
A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved. Tumors may occur at any age but ofte... | Lynch syndrome | c1333990 | 3,283 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=144 | 2021-01-23T17:27:13 | {"gard": ["9905"], "mesh": ["D003123"], "omim": ["120435", "609310", "613244", "614331", "614337", "614350", "614385"], "umls": ["C1112155", "C1333990"], "icd-10": ["D48.9"]} |
Moniz sign
Differential diagnosisPyramidal tract lesions
Moniz sign is a clinical sign in which forceful passive plantar flexion of the ankle elicits an extensor plantar reflex. It is found in patients with pyramidal tract lesions, and is one of a number of Babinski-like responses.[1]
It is named after Portug... | Moniz sign | None | 3,284 | wikipedia | https://en.wikipedia.org/wiki/Moniz_sign | 2021-01-18T19:08:30 | {"wikidata": ["Q6900535"]} |
A number sign (#) is used with this entry because of evidence that pancreatic and cerebellar agenesis (PACA) is caused by homozygous mutation in the PTF1A gene (607194) on chromosome 10p12.
A form of isolated pancreatic agenesis (PAGEN2; 615935) is caused by mutation in a distal enhancer of the PTF1A gene.
Clin... | PANCREATIC AND CEREBELLAR AGENESIS | c1836780 | 3,285 | omim | https://www.omim.org/entry/609069 | 2019-09-22T16:06:48 | {"mesh": ["C563796"], "omim": ["609069"], "orphanet": ["65288"], "synonyms": ["Alternative titles", "DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS"]} |
Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from b... | Hemophilia B | c0008533 | 3,286 | gard | https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b | 2021-01-18T18:00:06 | {"mesh": ["D002836"], "omim": ["306900"], "umls": ["C0008533"], "orphanet": ["98879"], "synonyms": ["Christmas disease", "Factor IX deficiency", "HEM B"]} |
## Summary
### Clinical characteristics.
Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibu... | Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct | None | 3,287 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1467/ | 2021-01-18T21:04:02 | {"synonyms": ["PDS/NSEVA", "PDS/DFNB4"]} |
A number sign (#) is used with this entry because glucocorticoid-remediable aldosteronism (GRA), also referred to as glucocorticoid-suppressible hyperaldosteronism (GSH) or familial hyperaldosteronism type I (HALD1), is the result of an anti-Lepore-type fusion of the CYP11B2 (124080) and CYP11B1 genes (see 610613.000... | HYPERALDOSTERONISM, FAMILIAL, TYPE I | c1260386 | 3,288 | omim | https://www.omim.org/entry/103900 | 2019-09-22T15:41:16 | {"doid": ["14080"], "mesh": ["C563177"], "omim": ["103900"], "icd-9": ["255.11"], "icd-10": ["E26.02"], "orphanet": ["403"], "synonyms": ["Alternative titles", "GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "ACTH-DEPENDEN... |
## Description
Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., ... | DERMOCHONDROCORNEAL DYSTROPHY | c0432288 | 3,289 | omim | https://www.omim.org/entry/221800 | 2019-09-22T16:28:52 | {"mesh": ["C535375"], "omim": ["221800"], "orphanet": ["79149"], "synonyms": ["Alternative titles", "FRANCOIS SYNDROME"]} |
Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.
*[v]: View this template
*[t]: Discuss this template
... | Nasal ganglioglioma | None | 3,290 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141115 | 2021-01-23T18:30:00 | {} |
Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This cond... | Heparin-induced thrombocytopenia | c0272285 | 3,291 | gard | https://rarediseases.info.nih.gov/diseases/2650/heparin-induced-thrombocytopenia | 2021-01-18T18:00:05 | {"umls": ["C0272285"], "orphanet": ["3325"], "synonyms": ["HIT", "Heparin-induced thrombocytopenia"]} |
Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellec... | Cheirospondyloenchondromatosis | c4510810 | 3,292 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99647 | 2021-01-23T18:54:24 | {"synonyms": ["Generalized enchondromatosis with platyspondyly"]} |
A number sign (#) is used with this entry because of evidence that ovarian dysgenesis-1 (ODG1) is caused by homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor (FSHR; 136435) on chromosome 2p16.
Description
Hypergonadotropic ovarian failure is a heterogeneous diso... | OVARIAN DYSGENESIS 1 | c0685837 | 3,293 | omim | https://www.omim.org/entry/233300 | 2019-09-22T16:27:24 | {"doid": ["0080493"], "mesh": ["D023961"], "omim": ["233300"], "orphanet": ["243"], "synonyms": ["Alternative titles", "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE", "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE", "GONADAL DYSGENESIS, XX TYPE", "XX GONADAL DYSGENESIS", "OVARIAN FAILURE, H... |
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back... | Klippel-Feil syndrome | c1861689 | 3,294 | medlineplus | https://medlineplus.gov/genetics/condition/klippel-feil-syndrome/ | 2021-01-27T08:25:06 | {"gard": ["10280"], "mesh": ["C536887"], "omim": ["118100", "214300", "613702"], "synonyms": []} |
Tuftsin, which is derived from the heavy chain of human immunoglobulin, is a tetrapeptide (Thr--Lys--Pro--Arg) that stimulates the phagocytic activity of polymorphonuclear leukocytes. (Tuftsin was named for Tufts University where the tetrapeptide was discovered.) It is activated in the spleen and bound to a carrier l... | TUFTSIN DEFICIENCY | c0398741 | 3,295 | omim | https://www.omim.org/entry/191150 | 2019-09-22T16:32:14 | {"mesh": ["C562872"], "omim": ["191150"]} |
A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
## Epidemiology
Approximately 100 patients have been described in the lite... | Arterial tortuosity syndrome | c1859726 | 3,296 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3342 | 2021-01-23T17:18:08 | {"gard": ["774"], "mesh": ["C565942"], "omim": ["208050"], "umls": ["C1859726"], "icd-10": ["I77.1"], "synonyms": ["ATS"]} |
Natural variation in gene expression is extensive, and variation in the baseline expression level of many genes has a heritable component. To localize the genetic determinants of these quantitative traits (gene expression phenotypes), Morley et al. (2004) used microarray analysis to measure gene expression levels and... | GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14 | c1837209 | 3,297 | omim | https://www.omim.org/entry/608875 | 2019-09-22T16:07:05 | {"omim": ["608875"], "synonyms": ["Alternative titles", "GEVQ1"]} |
## Description
Alzheimer disease (AD) is a neurodegenerative disorder characterized by subtle onset of memory loss followed by a slowly progressive dementia. The great majority of AD cases are of late onset (LOAD) after age 65 years. LOAD shows complex, nonmendelian patterns of inheritance, and most likely results ... | ALZHEIMER DISEASE 6 | c0276496 | 3,298 | omim | https://www.omim.org/entry/605526 | 2019-09-22T16:11:12 | {"doid": ["0110038"], "mesh": ["D000544"], "omim": ["605526"], "orphanet": ["1020"], "synonyms": ["Alternative titles", "AD6", "ALZHEIMER DISEASE 6, LATE-ONSET"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (February 2013)
Inflammatory myeloblastic tumor
Inflammatory myeloblastic tumor (IMT), also known as an "inflammatory pseudotumor", is a rare benign ... | Inflammatory myeloblastic tumor | c0334121 | 3,299 | wikipedia | https://en.wikipedia.org/wiki/Inflammatory_myeloblastic_tumor | 2021-01-18T19:05:48 | {"mesh": ["D006104"], "umls": ["C0334121"], "wikidata": ["Q6030096"]} |
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