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Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is ... | Hypotrichosis-lymphedema-telangiectasia syndrome | c1843004 | 4,000 | gard | https://rarediseases.info.nih.gov/diseases/12827/hypotrichosis-lymphedema-telangiectasia-syndrome | 2021-01-18T17:59:51 | {"mesh": ["C564327"], "omim": ["607823"], "orphanet": ["69735"], "synonyms": ["HLTS", "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome", "Hypotrichosis lymphedema telangiectasia syndrome"]} |
## Clinical Features
Kayes-Wandover et al. (2001) studied 5 patients in 4 unrelated kindreds with hyperreninemic hypoaldosteronism in whom they were unable to find mutations in the aldosterone synthase gene (CYP11B2; 124080). All presented in infancy with failure to thrive, hyponatremia, hyperkalemia, markedly elev... | HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2 | c1846990 | 4,001 | omim | https://www.omim.org/entry/606984 | 2019-09-22T16:09:48 | {"mesh": ["C564638"], "omim": ["606984"], "orphanet": ["427"], "synonyms": ["Alternative titles", "FHHA2"]} |
"Emphysema" and "Chronic bronchitis" redirect here. For the abnormal occurrence of gas within tissue, see pneumatosis. For the long-term productive cough, see Bronchitis § Chronic bronchitis.
Lung disease involving long-term poor airflow
Chronic obstructive pulmonary disease
Other namesChronic obstructive lung di... | Chronic obstructive pulmonary disease | c0024117 | 4,002 | wikipedia | https://en.wikipedia.org/wiki/Chronic_obstructive_pulmonary_disease | 2021-01-18T19:01:02 | {"mesh": ["D029424"], "umls": ["C0024117"], "icd-9": ["496", "490", "492", "494"], "wikidata": ["Q199804"]} |
Askin's tumor is a rare, primitive neuroectodermal tumor which arises from the soft tissues of the chest wall, particularly of the paravertebral region.[1][2] It was first described by Askin et al in 1979.[3] Askin's tumor is now recognized as part of the Ewing's sarcoma family of tumors.[4] This neoplasm tended ... | Askin's tumor | c0877849 | 4,003 | wikipedia | https://en.wikipedia.org/wiki/Askin%27s_tumor | 2021-01-18T18:39:13 | {"mesh": ["C563168", "Askin Tumor"], "umls": ["C0877849"], "wikidata": ["Q18553335"]} |
Trichorrhexis invaginata
Other namesBamboo hair[1]
SpecialtyDermatology
Trichorrhexis invaginata is a distinctive hair shaft abnormality that may occur sporadically, either in normal hair or with other hair shaft abnormalities, or regularly as a marker for Netherton's syndrome.[1]:638[2]:766–7 The primary de... | Trichorrhexis invaginata | c0702164 | 4,004 | wikipedia | https://en.wikipedia.org/wiki/Trichorrhexis_invaginata | 2021-01-18T18:50:20 | {"icd-10": ["L67.8"], "wikidata": ["Q7840964"]} |
Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen a... | Meigs syndrome | c0025184 | 4,005 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314451 | 2021-01-23T18:48:02 | {"mesh": ["D008539"], "umls": ["C0025184"], "icd-10": ["D27"], "synonyms": ["Demons-Meigs syndrome"]} |
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen a... | McLeod neuroacanthocytosis syndrome | c0398568 | 4,006 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=59306 | 2021-01-23T17:56:58 | {"gard": ["10731"], "mesh": ["C564038"], "omim": ["300842"], "umls": ["C0398568"], "icd-10": ["G10"], "synonyms": ["MLS", "X-linked McLeod syndrome"]} |
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bri... | Mosaic trisomy 15 | c2931707 | 4,007 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1706 | 2021-01-23T17:19:40 | {"gard": ["5313"], "mesh": ["C538037"], "umls": ["C2931707"], "icd-10": ["Q92.1"], "synonyms": ["Mosaic trisomy chromosome 15", "Trisomy 15 mosaicism"]} |
A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic d... | Progressive myoclonic epilepsy type 5 | c1843852 | 4,008 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402082 | 2021-01-23T18:40:57 | {"mesh": ["C564395"], "omim": ["607459"], "icd-10": ["G40.3"], "synonyms": ["EPM5", "PME type 5", "Progressive myoclonus epilepsy type 5"]} |
Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. ... | Ocular cicatricial pemphigoid | c0157721 | 4,009 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99922 | 2021-01-23T18:27:41 | {"umls": ["C0157721"], "icd-10": ["H13.3*", "L12+"]} |
For other uses, see Junctional epidermolysis bullosa.
The Belgian Draft Horse is one breed in which JEB occurs
Junctional epidermolysis bullosa (JEB) is an inherited disorder that is also known as red foot disease or hairless foal syndrome.[1] JEB is the result of a genetic mutation that inhibits protein production... | Junctional epidermolysis bullosa (veterinary medicine) | None | 4,010 | wikipedia | https://en.wikipedia.org/wiki/Junctional_epidermolysis_bullosa_(veterinary_medicine) | 2021-01-18T19:09:30 | {"wikidata": ["Q6311810"]} |
A number sign (#) is used with this entry because of evidence that poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is caused by heterozygous mutation in the FAM111B gene (615584) on chromosome 11q12.
Description
Poikiloderma, characterized by mottled pigmentation, telangiectasia, a... | POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS | c3810325 | 4,011 | omim | https://www.omim.org/entry/615704 | 2019-09-22T15:51:14 | {"omim": ["615704"], "orphanet": ["221043"], "synonyms": ["Alternative titles", "POIKILODERMA, HEREDITARY SCLEROSING, WITH TENDON AND PULMONARY INVOLVEMENT", "POIKTMP syndrome"], "genereviews": ["NBK390610"]} |
A number sign (#) is used with this entry because of evidence that distal hereditary motor neuronopathy type VB (HMN5B) is caused by heterozygous mutation in the REEP1 gene (609139) on chromosome 2p11. One such family has been reported.
Mutation in the REEP1 gene can also cause spastic paraplegia-31 (SPG31; 610250).... | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB | c1833308 | 4,012 | omim | https://www.omim.org/entry/614751 | 2019-09-22T15:54:18 | {"doid": ["0111205"], "mesh": ["C563443"], "omim": ["614751"], "orphanet": ["139536"], "synonyms": ["Alternative titles", "HMN VB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VB", "DHMN VB", "SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VB"]} |
A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.
## Epidemiology
The global prevalence of Alport syndrome (AS) is unknown. The prevalence at birth in F... | Alport syndrome | c1567741 | 4,013 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=63 | 2021-01-23T17:47:37 | {"gard": ["5785"], "mesh": ["D009394"], "omim": ["104200", "203780", "301050"], "umls": ["C1567741"], "icd-10": ["Q87.8"], "synonyms": ["Alport deafness-nephropathy", "Alport hearing loss-nephropathy"]} |
Substance-induced psychosis
Other namesSubstance-induced psychotic disorder, drug-induced psychosis, substance/medication-induced psychotic disorder, toxic psychosis
SpecialtyPsychiatry, addiction psychiatry
Substance-induced psychosis (commonly known as toxic psychosis or drug-induced psychosis) is a form o... | Substance-induced psychosis | c0154334 | 4,014 | wikipedia | https://en.wikipedia.org/wiki/Substance-induced_psychosis | 2021-01-18T19:06:17 | {"umls": ["C0154334"], "icd-9": ["292"], "icd-10": ["F06", "F10-F19"], "wikidata": ["Q2151786"]} |
Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and deve... | Combined pancreatic lipase-colipase deficiency | c3280527 | 4,015 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309111 | 2021-01-23T17:16:03 | {"omim": ["614338"], "icd-10": ["K90.3"]} |
This article is about a military-related term. For the band, see Thousand Yard Stare (band). For the Chicane album, see Thousand Mile Stare.
War artist Thomas Lea's The Two-Thousand Yard Stare
The thousand-yard stare or two-thousand-yard stare is a phrase often used to describe the blank, unfocused gaze of combatan... | Thousand-yard stare | None | 4,016 | wikipedia | https://en.wikipedia.org/wiki/Thousand-yard_stare | 2021-01-18T18:58:07 | {"wikidata": ["Q841743"]} |
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
## Epidemiology
X-linked sideroblastic anemia and ataxia (XLSA-A) prevalence is unknown. Less than 20 genetically ... | X-linked sideroblastic anemia and spinocerebellar ataxia | c1845028 | 4,017 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2802 | 2021-01-23T18:10:35 | {"gard": ["668"], "mesh": ["C536358"], "omim": ["301310"], "umls": ["C1845028"], "icd-10": ["D64.0"], "synonyms": ["Pagon-Bird-Detter syndrome", "X-linked sideroblastic anemia with ataxia", "XLSA-A"]} |
Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.
## Epidemiology
SS accounts for around 1- 2% of all cases of testicular germ cell tumors (see thi... | Spermatocytic seminoma | c0334517 | 4,018 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99865 | 2021-01-23T17:02:17 | {"omim": ["273300"], "umls": ["C0334517"], "icd-10": ["C62.9"]} |
A number sign (#) is used with this entry because of evidence that lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) is caused by homozygous or compound heterozygous mutation in the FLAD1 gene (610595) on chromosome 1q21.
Description
Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive in... | LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY | c4310822 | 4,019 | omim | https://www.omim.org/entry/255100 | 2019-09-22T16:24:37 | {"omim": ["255100"], "orphanet": ["394529", "394532"], "synonyms": ["MAD deficiency, severe neonatal type", "Glutaric aciduria type 2, mild type", "Glutaric aciduria type 2, severe neonatal type", "MAD deficiency, mild type", "MADD, mild type", "MADD, severe neonatal type"]} |
An inflammatory myofibroblastic tumor (IMT) is an uncommon, usually benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the l... | Inflammatory myofibroblastic tumor | c0334121 | 4,020 | gard | https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor | 2021-01-18T17:59:46 | {"mesh": ["D006104"], "umls": ["C0334121"], "orphanet": ["178342"], "synonyms": ["Inflammatory fibrosarcoma"]} |
Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, bu... | Hirschsprung disease | c0019569 | 4,021 | gard | https://rarediseases.info.nih.gov/diseases/6660/hirschsprung-disease | 2021-01-18T18:00:00 | {"mesh": ["D006627"], "omim": ["142623"], "orphanet": ["388"], "synonyms": ["HSCR", "Hirschsprung disease 1", "HSCR 1", "Aganglionic megacolon", "Hirschsprung disease type 1"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-61 (DFNB61) is caused by compound heterozygous mutation in the SLC26A5 (PRES) gene (604943) on chromosome 7q22. One such family has been reported.
Clinical Features
Liu et al. (2003) reported 2 unrelated families segrega... | DEAFNESS, AUTOSOMAL RECESSIVE 61 | c3151230 | 4,022 | omim | https://www.omim.org/entry/613865 | 2019-09-22T15:57:07 | {"doid": ["0110513"], "omim": ["613865"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]} |
Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junc... | Junctional epidermolysis bullosa | c0079683 | 4,023 | medlineplus | https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa/ | 2021-01-27T08:25:46 | {"gard": ["6359", "2152"], "mesh": ["D016109"], "omim": ["226700", "226650"], "synonyms": []} |
A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.
... | Conductive deafness-malformed external ear syndrome | c1857341 | 4,024 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3216 | 2021-01-23T17:39:55 | {"gard": ["1460"], "mesh": ["C565644"], "omim": ["221300"], "umls": ["C1857341", "C2931454"], "synonyms": ["Conductive hearing loss-malformed external ear syndrome", "Mengel-Konigsmark syndrome"]} |
Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of CFC syndrome overlap significant... | Cardiofaciocutaneous syndrome | c1275081 | 4,025 | gard | https://rarediseases.info.nih.gov/diseases/9146/cardiofaciocutaneous-syndrome | 2021-01-18T18:01:38 | {"mesh": ["C535579"], "omim": ["115150"], "umls": ["C1275081"], "orphanet": ["1340"], "synonyms": ["CFC syndrome", "Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure", "Cardio-facio-cutaneous syndrome"]} |
"Wry neck" redirects here. For the bird, see Wryneck.
Torticollis
Other namesCrick in the neck, wry neck, stiff neck, loxia[note 1]
The muscles involved with torticollis
SpecialtyOrthopedics
Torticollis, also known as wry neck, is a dystonic condition defined by an abnormal, asymmetrical head or neck posi... | Torticollis | c0040485 | 4,026 | wikipedia | https://en.wikipedia.org/wiki/Torticollis | 2021-01-18T19:09:13 | {"mesh": ["D014103"], "umls": ["C0040485"], "icd-9": ["723.5"], "icd-10": ["M43.6"], "wikidata": ["Q615363"]} |
PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the sam... | PMM2-congenital disorder of glycosylation | c0349653 | 4,027 | medlineplus | https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/ | 2021-01-27T08:25:29 | {"gard": ["9826"], "mesh": ["C535739"], "omim": ["212065"], "synonyms": []} |
## Description
Idiopathic scoliosis, an abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees, affects approximately 2 to 3% of the worldwide population and has a heritable component (summary by Bashiardes et al., 2004).
For a discussion of genetic hete... | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | c1837461 | 4,028 | omim | https://www.omim.org/entry/608765 | 2019-09-22T16:07:20 | {"omim": ["608765"]} |
Siegel-Bartlet et al. (2002) reported 2 female sibs with congenital heart defects: one with atrial and ventricular septal defects, which were surgically repaired, and the other with a ventricular septal defect that closed spontaneously. Both sibs also had a sacral neural tube defect with tethered cord requiring surgi... | CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION | c1842363 | 4,029 | omim | https://www.omim.org/entry/608227 | 2019-09-22T16:08:07 | {"mesh": ["C564271"], "omim": ["608227"], "orphanet": ["314993"], "synonyms": []} |
A number sign (#) is used with this entry because immunodeficiency-centromeric instability-facial anomalies syndrome-2 (ICF2) is caused by homozygous or compound heterozygous mutation in the ZBTB24 gene (614064) on chromosome 6q21.
Description
Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) ... | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 | c3279748 | 4,030 | omim | https://www.omim.org/entry/614069 | 2019-09-22T15:56:39 | {"doid": ["0090009"], "omim": ["614069"], "orphanet": ["2268"], "synonyms": ["Immunodeficiency-centromeric instability-facial anomalies syndrome"]} |
Sooty blotch and flyspeck (SBFS) or apple summer disease is a plant disease caused by a complex of saprophytic fungi which colonize the epicuticular wax layer of apple (Malus x domestica Borkh.). It is found worldwide in regions with moist growing seasons.[1]
## Contents
* 1 Description
* 2 Risk factors
* 3 B... | Sooty blotch and flyspeck | None | 4,031 | wikipedia | https://en.wikipedia.org/wiki/Sooty_blotch_and_flyspeck | 2021-01-18T19:08:49 | {"wikidata": ["Q7562791"]} |
Willard et al. (1986) described a general strategy for the detection of high-frequency restriction fragment length polymorphisms in the centromeric regions of human chromosomes by molecular analysis of alpha satellite DNA. Alpha satellite DNA represents a diverse family of randomly repeated DNA located near the centr... | DNA, SATELLITE, ALPHA TYPE | c1852038 | 4,032 | omim | https://www.omim.org/entry/126410 | 2019-09-22T16:42:11 | {"omim": ["126410"]} |
A number sign (#) is used with this entry because of evidence that recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) is caused by homozygous or compound heterozygous mutation in the TANGO2 gene (616830) on chromosome 22q11.
Description
Recurrent metabolic crises wit... | METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | c4225171 | 4,033 | omim | https://www.omim.org/entry/616878 | 2019-09-22T15:47:39 | {"omim": ["616878"], "orphanet": ["480864"], "synonyms": [], "genereviews": ["NBK476443"]} |
Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.
## Epidemiology
LP pigmentosus is a rare disease in Europe but it is common in Indian populations and in the Mid... | Lichen planus pigmentosus | c0406366 | 4,034 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254463 | 2021-01-23T17:49:17 | {"gard": ["10816"], "umls": ["C0406366"], "icd-10": ["L43.8"], "synonyms": ["LP pigmentosa", "LP pigmentosus", "Lichen planus pigmentosa", "Lichen planus pigmentosus inversus"]} |
## Description
Familial juvenile hypertrophy of the breast (JHB) is a rare condition characterized by gigantomastia in peripubertal females. The pathology is limited to the breast with otherwise normal growth and development (summary by Genzer-Nir et al., 2010).
A syndrome has been described in which affected fema... | HYPERTROPHY OF THE BREAST, JUVENILE | c0405471 | 4,035 | omim | https://www.omim.org/entry/113670 | 2019-09-22T16:43:56 | {"mesh": ["C536821"], "omim": ["113670"], "orphanet": ["180176"], "synonyms": ["Virginal breast hypertrophy", "Alternative titles", "Familial juvenile gigantomastia", "GIGANTOMASTIA, JUVENILE"]} |
Chemotherapy-induced peripheral neuropathy
Other namesCIPN
SpecialtyNeurology
Chemotherapy-induced peripheral neuropathy is a progressive, enduring, and often irreversible condition featuring pain, numbness, tingling and sensitivity to cold in the hands and feet (sometimes progressing to the arms and legs) t... | Chemotherapy-induced peripheral neuropathy | c3873567 | 4,036 | wikipedia | https://en.wikipedia.org/wiki/Chemotherapy-induced_peripheral_neuropathy | 2021-01-18T18:36:11 | {"umls": ["C3873567"], "wikidata": ["Q17153857"]} |
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage a... | Dehydrated hereditary stomatocytosis | c0272051 | 4,037 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3202 | 2021-01-23T18:57:52 | {"gard": ["5623"], "mesh": ["C536764"], "omim": ["194380", "616689"], "umls": ["C0272051"], "icd-10": ["D58.8"], "synonyms": ["Hereditary xerocytosis"]} |
Stacks or aggregations of red blood cells
This article is about red blood cell stacks. "Rouleaux" is a plural form for "Rouleau". For people, see Rouleau (surname). For other uses, see Rouleau.
This article needs attention from an expert in biology. Please add a reason or a talk parameter to this template to explai... | Rouleaux | c0221285 | 4,038 | wikipedia | https://en.wikipedia.org/wiki/Rouleaux | 2021-01-18T18:41:16 | {"umls": ["C0221285"], "wikidata": ["Q682542"]} |
Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
## Epidemiology
The estimated birth prevalence of MSUD is 1/ 150,000. Aroun... | Intermediate maple syrup urine disease | c1621920 | 4,039 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268162 | 2021-01-23T17:37:34 | {"mesh": ["D008375"], "omim": ["248600", "615135"], "umls": ["C1621920"], "icd-10": ["E71.0"], "synonyms": ["Intermediate BCKD deficiency", "Intermediate MSUD", "Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency"]} |
Jugular vein ectasia
Pronunciation
* vascular specialist/surgeorn
Jugular vein ectasia is a venous anomaly that commonly presents itself as a unilateral neck swelling in children and adults. It is rare to have bilateral neck swelling due to internal jugular vein ectasia.[1]
## References[edit]
1. ^ G... | Jugular vein ectasia | None | 4,040 | wikipedia | https://en.wikipedia.org/wiki/Jugular_vein_ectasia | 2021-01-18T18:42:01 | {"wikidata": ["Q16943887"]} |
A number sign (#) is used with this entry because Wieacker-Wolff syndrome (WRWF) is caused by mutation in the ZC4H2 gene (300897) on chromosome Xq11.
Description
Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is charact... | WIEACKER-WOLFF SYNDROME | c1839735 | 4,041 | omim | https://www.omim.org/entry/314580 | 2019-09-22T16:17:04 | {"doid": ["0060815"], "mesh": ["C537472"], "omim": ["314580"], "orphanet": ["85283", "3454"], "synonyms": ["Alternative titles", "WIEACKER SYNDROME", "CONTRACTURES OF FEET, MUSCLE ATROPHY, AND OCULOMOTOR APRAXIA", "APRAXIA, OCULOMOTOR, WITH CONGENITAL CONTRACTURES AND MUSCLE ATROPHY", "MILES-CARPENTER X-LINKED MENTAL R... |
For a phenotypic description and a discussion of genetic heterogeneity of postaxial polydactyly, see 174200.
Galjaard et al. (2003) described an autosomal dominant postaxial polydactyly and partial cutaneous syndactyly syndrome in a 31-member, 6-generation Dutch kindred with 11 affected individuals. Although the PAP... | POLYDACTYLY, POSTAXIAL, TYPE A4 | c3887487 | 4,042 | omim | https://www.omim.org/entry/608562 | 2019-09-22T16:07:39 | {"mesh": ["C562429"], "omim": ["608562"], "orphanet": ["93334"], "synonyms": ["Alternative titles", "PAPA4", "POSTAXIAL POLYDACTYLY, TYPE A4"]} |
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Find sources: "Ovarian disease" – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove this template ... | Ovarian disease | c0029928 | 4,043 | wikipedia | https://en.wikipedia.org/wiki/Ovarian_disease | 2021-01-18T18:56:39 | {"mesh": ["D010049"], "umls": ["C0029928", "C4021818"], "icd-9": ["620.0", "256", "620"], "icd-10": ["E28", "N83"], "wikidata": ["Q7113244"]} |
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes... | ICF syndrome | c0398788 | 4,044 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2268 | 2021-01-23T18:25:44 | {"gard": ["2945"], "mesh": ["C537362"], "omim": ["242860", "614069", "616910", "616911"], "icd-10": ["D84.8"], "synonyms": ["Immunodeficiency-centromeric instability-facial anomalies syndrome"]} |
Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical ... | Neuronal ceroid lipofuscinosis | c0027877 | 4,045 | gard | https://rarediseases.info.nih.gov/diseases/10739/neuronal-ceroid-lipofuscinosis | 2021-01-18T17:58:44 | {"mesh": ["D009472"], "umls": ["C0027877"], "orphanet": ["216"], "synonyms": ["Batten disease", "NCL"]} |
This article is written like a personal reflection, personal essay, or argumentative essay that states a Wikipedia editor's personal feelings or presents an original argument about a topic. Please help improve it by rewriting it in an encyclopedic style. (March 2009) (Learn how and when to remove this template messag... | Nocturnal sleep-related eating disorder | c1319848 | 4,046 | wikipedia | https://en.wikipedia.org/wiki/Nocturnal_sleep-related_eating_disorder | 2021-01-18T18:47:59 | {"wikidata": ["Q11583761"]} |
A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.
## Epidemiology
Approximatively 80 patients have been reported in the literature to date.
## ... | Malan overgrowth syndrome | c3553660 | 4,047 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420179 | 2021-01-23T18:22:33 | {"omim": ["614753"], "icd-10": ["Q87.3"], "synonyms": ["Sotos syndrome 2"]} |
Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or... | Vibratory urticaria | c1852146 | 4,048 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=493342 | 2021-01-23T19:12:57 | {"mesh": ["C536612"], "omim": ["125630"]} |
A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).
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*[... | Audiogenic seizures | c0751791 | 4,049 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166415 | 2021-01-23T17:09:15 | {"mesh": ["D020195"], "umls": ["C0751791"], "icd-10": ["G40.5"]} |
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Tropical diseases are diseases that are prevalent in or unique to tropic... | Tropical disease | c1336827 | 4,050 | wikipedia | https://en.wikipedia.org/wiki/Tropical_disease | 2021-01-18T19:02:33 | {"wikidata": ["Q1345671"]} |
An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual ac... | Temperature-sensitive oculocutaneous albinism type 1 | c1847132 | 4,051 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352737 | 2021-01-23T18:27:59 | {"mesh": ["C564645"], "omim": ["606952"], "umls": ["C1847132"], "icd-10": ["E70.3"], "synonyms": ["OCA1-TS", "TS OCA type 1"]} |
Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in th... | Ebstein's anomaly | c0013481 | 4,052 | gard | https://rarediseases.info.nih.gov/diseases/6313/ebsteins-anomaly | 2021-01-18T18:00:45 | {"mesh": ["D004437"], "omim": ["224700"], "umls": ["C0013481"], "orphanet": ["1880"], "synonyms": ["Ebstein's malformation", "Ebstein anomaly"]} |
Pancreatic serous cystadenoma
Other namesSerous cystadenoma of the pancreas, serous microcystic adenoma
Micrograph showing a pancreatic serous cystadenoma. H&E stain.
SpecialtyGeneral surgery, gastroenterology
SymptomsUsually asymptomatic
Usual onset50-60 years of age
Risk factorsFemale gender
Treatment... | Pancreatic serous cystadenoma | c1335316 | 4,053 | wikipedia | https://en.wikipedia.org/wiki/Pancreatic_serous_cystadenoma | 2021-01-18T18:34:33 | {"umls": ["C1335316"], "wikidata": ["Q7130420"]} |
## Description
Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the growth of uncapsulated masses of adipose tissue. It is associated with high ethanol intake and may be complicated by somatic and autonomic neuropathy and by the infiltration of the adipose tissue at the mediastinal level... | LIPOMATOSIS, MULTIPLE SYMMETRIC | c2931642 | 4,054 | omim | https://www.omim.org/entry/151800 | 2019-09-22T16:38:50 | {"doid": ["14116"], "mesh": ["C537837"], "omim": ["151800"], "orphanet": ["2398"], "synonyms": ["Alternative titles", "LIPOMATOSIS, FAMILIAL BENIGN CERVICAL", "LIPODYSTROPHY, CEPHALOTHORACIC"]} |
Diamond-Blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. Symptoms may include a shortage of red blood cells (anemia), physical abnormalities such as small head size (microcephaly) characteristic facial features, cleft palate, cleft lip, short and w... | Diamond-Blackfan anemia | c1260899 | 4,055 | gard | https://rarediseases.info.nih.gov/diseases/6274/diamond-blackfan-anemia | 2021-01-18T18:00:54 | {"mesh": ["D029503"], "icd-10": ["D61.0"], "orphanet": ["124"], "synonyms": ["DBA", "Anemia Diamond Blackfan type", "Blackfan Diamond syndrome", "BDS", "Anemia congenital erythroid hypoplastic", "Aregenerative anemia chronic congenital", "Erythrogenesis imperfecta", "Red cell aplasia, pure hereditary", "Congenital hypo... |
Not to be confused with Dipsomania.
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Potom... | Potomania | c1167939 | 4,056 | wikipedia | https://en.wikipedia.org/wiki/Potomania | 2021-01-18T19:06:04 | {"wikidata": ["Q7235099"]} |
Mastitis
Other namesMammitis
A drawing of mastitis from the early 1900s
Pronunciation
* /mæstˈaɪtɪs/
SpecialtyGynecology
SymptomsLocalized breast pain and redness, fever[1]
ComplicationsAbscess[2]
Usual onsetRapid[1]
Diagnostic methodBased on symptoms[2]
Differential diagnosisPlugged mil... | Mastitis | c0024894 | 4,057 | wikipedia | https://en.wikipedia.org/wiki/Mastitis | 2021-01-18T19:06:48 | {"mesh": ["D008413"], "umls": ["C0024894"], "icd-10": ["N61"], "wikidata": ["Q835061"]} |
Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It is usually characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. Most cases are isolat... | Uncombable hair syndrome | c0432347 | 4,058 | gard | https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome | 2021-01-18T17:57:14 | {"mesh": ["C536939"], "omim": ["191480"], "umls": ["C0432347"], "orphanet": ["1410"], "synonyms": ["Pili trianguli et Canaliculi", "Cheveux incoiffables", "Unmanageable hair syndrome", "Spun glass hair"]} |
Giant cell arteritis (GCA) is a form of vasculitis, a group of disorders that cause inflammation of blood vessels. GCA most commonly affects the arteries of the head (especially the temporal arteries, located on each side of the head), but arteries in other areas of the body can also become inflamed. The inflammation... | Giant cell arteritis | c0039483 | 4,059 | gard | https://rarediseases.info.nih.gov/diseases/9615/giant-cell-arteritis | 2021-01-18T18:00:20 | {"mesh": ["D013700"], "omim": ["187360"], "orphanet": ["397"], "synonyms": ["GCA", "Temporal arteritis", "Cranial arteritis", "Horton’s disease", "Horton's arteritis", "Horton's giant cell arteritis", "Horton’s syndrome", "Horton's temporal arteritis", "Arteritis temporalis", "Arteritis cranialis"]} |
Breast cyst
Ultrasound scan showing a small cyst in the breast
SpecialtyGeneral surgery
A breast cyst is a fluid-filled sac within the breast. One breast can have one or more breast cysts. They are often described as round or oval lumps with distinct edges. In texture, a breast cyst usually feels like a soft... | Breast cyst | c0006144 | 4,060 | wikipedia | https://en.wikipedia.org/wiki/Breast_cyst | 2021-01-18T18:45:51 | {"mesh": ["D047688"], "umls": ["C0006144"], "icd-9": ["610.0"], "wikidata": ["Q1647794"]} |
For the island, see Bone Island.
Enostosis
Other namesBone island
Osteopoikilosis results in multiple enostoses.
SpecialtyOrthopedic
An enostosis is a small area of compact bone within the cancellous bone.[1][2] They are commonly seen as an incidental finding on radiographs or CT scans. They are typic... | Enostosis | c0265512 | 4,061 | wikipedia | https://en.wikipedia.org/wiki/Enostosis | 2021-01-18T18:51:31 | {"umls": ["C0265512"], "wikidata": ["Q1343590"]} |
## Summary
### Clinical characteristics.
CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically... | CYLD Cutaneous Syndrome | None | 4,062 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK555820/ | 2021-01-18T21:37:24 | {"synonyms": ["Brooke-Spiegler Syndrome (BSS)", "Familial Cylindromatosis (FC)", "Multiple Familial Trichoepithelioma (MFT)"]} |
## Description
Familial progressive hyperpigmentation (FPH) is a rare autosomal dominant disorder characterized by patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age (summary by Zhang et al., 2006).
Also see familial progressive hyperpi... | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1 | c1840392 | 4,063 | omim | https://www.omim.org/entry/614233 | 2019-09-22T15:55:57 | {"mesh": ["C564163"], "omim": ["614233"], "orphanet": ["79146"], "synonyms": ["Alternative titles", "FPH"]} |
Tylosis with esophageal cancer
SpecialtyMedical genetics
Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet (hyperkeratosis). This familial disease is associated with a high lifetime risk of esophageal cancer. For this reason... | Howel–Evans syndrome | c1835664 | 4,064 | wikipedia | https://en.wikipedia.org/wiki/Howel%E2%80%93Evans_syndrome | 2021-01-18T18:31:22 | {"gard": ["3102"], "mesh": ["C536164"], "umls": ["C1835664"], "orphanet": ["2198"], "wikidata": ["Q5921848"]} |
Clear-cell adenocarcinoma
Micrograph of an ovarian clear-cell adenocarcinoma. H&E stain.
SpecialtyOncology
Clear-cell adenocarcinoma is a type of adenocarcinoma that shows clear cells.[1]
Types include:
* Clear-cell adenocarcinoma of the vagina
* Clear-cell ovarian carcinoma
* Uterine clear-cell ... | Clear-cell adenocarcinoma | c0206681 | 4,065 | wikipedia | https://en.wikipedia.org/wiki/Clear-cell_adenocarcinoma | 2021-01-18T18:50:36 | {"mesh": ["D018262"], "umls": ["C0206681"], "wikidata": ["Q5130800"]} |
Acrodysostosis syndrome
Other namesArkless-Graham syndrome,[1] Maroteaux-Malamut syndrome[2][3]
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and pec... | Acrodysostosis | c0220659 | 4,066 | wikipedia | https://en.wikipedia.org/wiki/Acrodysostosis | 2021-01-18T18:29:28 | {"gard": ["5724", "2015"], "mesh": ["C538179"], "umls": ["C0220659"], "orphanet": ["950"], "wikidata": ["Q4357287"]} |
Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.
## Epidemiology
Benign PC deficiency is a very rare form of PC deficiency and has been described in fewer than 10 pa... | Pyruvate carboxylase deficiency, benign type | c0034341 | 4,067 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353320 | 2021-01-23T16:52:45 | {"mesh": ["D015324"], "omim": ["266150"], "icd-10": ["E74.4"], "synonyms": ["Pyruvate carboxylase deficiency type C"]} |
Menstrual extractionBackground
Abortion typeSurgical
First use1971
GestationFirst trimester
Usage
Developed and used in a feminist, non-medicalized context.
Infobox references
Menstrual extraction (ME) is a type of manual vacuum aspiration technique developed by feminist activists Lorraine Rothman an... | Menstrual extraction | c0362068 | 4,068 | wikipedia | https://en.wikipedia.org/wiki/Menstrual_extraction | 2021-01-18T18:41:41 | {"wikidata": ["Q2621784"]} |
Pancoast tumor
Other namesPulmonary sulcus tumor, superior sulcus tumor
Chest radiograph showing a Pancoast tumor (labeled as P, non-small cell lung carcinoma, right lung), from a 47-year-old female smoker.
SpecialtyOncology
A Pancoast tumor is a tumor of the pulmonary apex. It is a type of lung cancer... | Pancoast tumor | c0549471 | 4,069 | wikipedia | https://en.wikipedia.org/wiki/Pancoast_tumor | 2021-01-18T18:34:36 | {"mesh": ["D010178"], "umls": ["C0549471"], "icd-9": ["162.3"], "icd-10": ["C34.1"], "wikidata": ["Q1750884"]} |
Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically ... | Alkaptonuria | c0002066 | 4,070 | medlineplus | https://medlineplus.gov/genetics/condition/alkaptonuria/ | 2021-01-27T08:24:45 | {"gard": ["5775"], "mesh": ["D000474"], "omim": ["203500"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that intrahepatic cholestasis of pregnancy-1 (ICP1) can be caused by heterozygous mutation in the ATP8B1 gene (602397) on chromosome 18q21.
Mutation in the ATP8B1 gene can also cause progressive familial intrahepatic cholestasis-1 (PFIC1; 211600) and beni... | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 | c3549845 | 4,071 | omim | https://www.omim.org/entry/147480 | 2019-09-22T16:39:25 | {"doid": ["0070228"], "mesh": ["C535932"], "omim": ["147480"], "orphanet": ["69665"], "synonyms": ["Recurrent intrahepatic cholestasis of pregnancy", "CHOLESTASIS, PREGNANCY-RELATED, 1", "Gravidic intrahepatic cholestasis", "Pregnancy-related cholestasis", "Alternative titles"]} |
A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most com... | Polyembryoma | c0334518 | 4,072 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=180229 | 2021-01-23T17:05:06 | {"gard": ["9621"], "umls": ["C0334518"]} |
Refractory anemia with ring sideroblasts
Other namesRARS
Refractory anemia with ring sideroblasts is a type of myelodysplastic syndrome. RARS is characterized by 5% or less myeloblasts in bone marrow. RARS is distinguished from refractory anemia by having 15% or more ringed sideroblasts among the erythroid pre... | Refractory anemia with ring sideroblasts | c1264195 | 4,073 | wikipedia | https://en.wikipedia.org/wiki/Refractory_anemia_with_ring_sideroblasts | 2021-01-18T18:38:19 | {"gard": ["7644"], "umls": ["C1264195"], "icd-10": ["D46.1"], "orphanet": ["75564"], "wikidata": ["Q16938550"]} |
Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. The... | Brachytelephalangy-dysmorphism-Kallmann syndrome | c2931421 | 4,074 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1295 | 2021-01-23T18:37:41 | {"mesh": ["C537101"], "omim": ["113480"], "umls": ["C2931421"], "icd-10": ["Q87.0"]} |
Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from depos... | Immunotactoid glomerulopathy | c0268749 | 4,075 | gard | https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy | 2021-01-18T17:59:48 | {"orphanet": ["97567"], "synonyms": ["Immunotactoid glomerulonephritis"]} |
Diffuse idiopathic skeletal hyperostosis
Other namesForestier's disease, senile ankylosing spondylosis, ankylosing hyperostosis
DISH in an 80 year old female, also with T11 fracture.
SpecialtyRheumatology
Diffuse idiopathic skeletal hyperostosis (DISH) is a condition characterized by abnormal calcification... | Diffuse idiopathic skeletal hyperostosis | c0020498 | 4,076 | wikipedia | https://en.wikipedia.org/wiki/Diffuse_idiopathic_skeletal_hyperostosis | 2021-01-18T18:44:43 | {"gard": ["6460"], "mesh": ["D004057"], "omim": ["106400"], "umls": ["C1862851"], "icd-9": ["721.6"], "icd-10": ["M48.1"], "orphanet": ["2206"], "synonyms": [], "wikidata": ["Q742762"]} |
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual dis... | Coffin-Lowry syndrome | c0265252 | 4,077 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=192 | 2021-01-23T17:30:28 | {"gard": ["6123"], "mesh": ["D038921"], "omim": ["303600"], "umls": ["C0265252"], "icd-10": ["Q87.0"], "synonyms": ["CLS"]} |
A number sign (#) is used with this entry because progressive microcephaly with seizures and cerebral and cerebellar atrophy (MSCCA) is caused by compound heterozygous mutation in the QARS gene (QARS1; 603727) on chromosome 3p21.
Description
Progressive microcephaly with seizures and cerebral and cerebellar atrophy... | MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY | c4014239 | 4,078 | omim | https://www.omim.org/entry/615760 | 2019-09-22T15:51:04 | {"omim": ["615760"], "orphanet": ["404437"], "synonyms": []} |
For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 (193000).
Clinical Features
Briggs et al. (2010) ascertained a large sample of children with vesicoureteral reflux, including 151 girls and 70 boys from 98 Caucasian families. Among the 98 probands, uri... | VESICOURETERAL REFLUX 4 | c3280439 | 4,079 | omim | https://www.omim.org/entry/614317 | 2019-09-22T15:55:42 | {"doid": ["9620"], "omim": ["614317"], "orphanet": ["289365"], "synonyms": ["Familial VUR"]} |
A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is caused by mutation in the gene encoding the procollagen protease ADAMTS2 (604539) on chromosome 5q35.
Description
Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorde... | EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE | c2700425 | 4,080 | omim | https://www.omim.org/entry/225410 | 2019-09-22T16:28:22 | {"mesh": ["C567527"], "omim": ["225410"], "orphanet": ["1901"], "synonyms": ["Alternative titles", "DERMATOSPARAXIS", "EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE", "EDS VIIC", "EDS7C"]} |
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).
## Epidemiology
Less than 30 cases have been described to date.
## ... | Xeroderma pigmentosum-Cockayne syndrome complex | c0268138 | 4,081 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=220295 | 2021-01-23T19:12:06 | {"mesh": ["C562591"], "omim": ["278730", "278760", "278780", "610651"], "icd-10": ["Q82.1", "Q87.1"], "synonyms": ["XP/CS complex"]} |
Cultured cells of many species infected with RNA or DNA viruses have been shown to produce not only standard reference virions but also defective virus particles which interfere with the replication of their parental infectious viruses. This phenomenon is known as homologous viral interference and the substances prod... | DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF | c1852265 | 4,082 | omim | https://www.omim.org/entry/125260 | 2019-09-22T16:42:31 | {"omim": ["125260"], "synonyms": ["Alternative titles", "DIPI, CONTROL OF", "HOMOLOGOUS VIRAL INTERFERENCE", "VESICULAR STOMATITIS VIRUS DEFECTIVE INTERFERING PARTICLE REPRESSOR"]} |
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, in... | Familial osteodysplasia, Anderson type | c1850186 | 4,083 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2769 | 2021-01-23T18:45:32 | {"gard": ["4136"], "mesh": ["C564923"], "omim": ["259250"], "umls": ["C1850186"]} |
This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.
## Epidemiology
At least five cases have been described in the literature so far.
## Clinical description
Enlargement of the kidneys was also reported in some cases.
## Genet... | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome | c1860215 | 4,084 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90301 | 2021-01-23T18:55:54 | {"gard": ["453"], "mesh": ["C536000"], "omim": ["200170"]} |
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two fo... | Opitz G/BBB syndrome | c2936904 | 4,085 | medlineplus | https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/ | 2021-01-27T08:24:58 | {"gard": ["10299", "193"], "mesh": ["C567932"], "omim": ["300000", "145410"], "synonyms": []} |
A number sign (#) is used with this entry because ACTN3 deficiency is caused by a homozygous nonsense polymorphism in the ACTN3 gene (102574) on chromosome 11q13.
Description
Approximately 16% of the world population is predicted to have congenital deficiency of alpha-actinin-3 based on a common nonsense polymorphi... | ACTN3 DEFICIENCY | c3888204 | 4,086 | omim | https://www.omim.org/entry/617749 | 2019-09-22T15:44:58 | {"omim": ["617749"], "synonyms": ["Alternative titles", "ALPHA-ACTININ-3 DEFICIENCY"]} |
## Clinical Features
Kala-azar, also known as visceral leishmaniasis, is a life-threatening protozoal disease caused by Leishmania parasites (L. donovani, L. chagasi, and L. infantum). It is prevalent in Africa, South America, Asia, and the Mediterranean basin. Epidemics occur periodically, killing a large number o... | KALA-AZAR, SUSCEPTIBILITY TO, 1 | c0023281 | 4,087 | omim | https://www.omim.org/entry/608207 | 2019-09-22T16:08:10 | {"doid": ["9146"], "mesh": ["D007896"], "omim": ["608207"], "orphanet": ["507"], "synonyms": ["Alternative titles", "LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 1"]} |
Visual agnosia is an impairment in recognition of visually presented objects. It is not due to a deficit in vision (acuity, visual field, and scanning), language, memory, or intellect.[1] While cortical blindness results from lesions to primary visual cortex, visual agnosia is often due to damage to more anterior cor... | Visual agnosia | c0234502 | 4,088 | wikipedia | https://en.wikipedia.org/wiki/Visual_agnosia | 2021-01-18T18:43:18 | {"mesh": ["C531604", "D000377"], "umls": ["C0234502"], "wikidata": ["Q18742"]} |
## Description
Y-linked deafness-1 (DFNY1) is characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life (Wang et al., 2009).
### Genetic Heterogeneity of Y-Linked Deafness
DFNY2 (400047) is caused by mutation in the ... | DEAFNESS, Y-LINKED 1 | c3888076 | 4,089 | omim | https://www.omim.org/entry/400043 | 2019-09-22T16:17:01 | {"omim": ["400043"]} |
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Gieser et al. (1998) described a 5-generation family with X-linked retinitis pigmentosa designated RP24. Affected males (hemizygotes) had early onset of rod photoreceptor dysfunction; cone-r... | RETINITIS PIGMENTOSA 24 | c0035334 | 4,090 | omim | https://www.omim.org/entry/300155 | 2019-09-22T16:20:51 | {"doid": ["0110416"], "mesh": ["D012174"], "omim": ["300155"], "orphanet": ["791"]} |
A number sign (#) is used with this entry because of evidence that mutations in various genes are responsible for susceptibility to endometrial cancer.
Approximately 20% of endometrial cancers demonstrate microsatellite instability (MSI) (Simpkins et al., 1999), a reflection of mutations in mismatch repair genes. Th... | ENDOMETRIAL CANCER | c0476089 | 4,091 | omim | https://www.omim.org/entry/608089 | 2019-09-22T16:08:27 | {"doid": ["1380"], "mesh": ["D016889"], "omim": ["608089"]} |
Milwaukee shoulder syndrome
SpecialtyRheumotology
Milwaukee shoulder syndrome (apatite-associated destructive arthritis) is a rheumatological condition similar to calcium pyrophosphate dihydrate deposition disease (CPPD). It is associated with periarticular or intra-articular deposition of hydroxyapatite cryst... | Milwaukee shoulder syndrome | c0409860 | 4,092 | wikipedia | https://en.wikipedia.org/wiki/Milwaukee_shoulder_syndrome | 2021-01-18T18:32:03 | {"mesh": ["D000070656"], "umls": ["C0409860"], "wikidata": ["Q3961663"]} |
## Clinical Features
Johnson et al. (1983) described a 'new' autosomal dominant neuroectodermal syndrome in which anosmia and hypogonadotropic hypogonadism were combined with conductive deafness, alopecia, and other anomalies. In 3 generations, 16 persons were affected. Deafness was associated with protruding e... | JOHNSON NEUROECTODERMAL SYNDROME | c0796002 | 4,093 | omim | https://www.omim.org/entry/147770 | 2019-09-22T16:39:23 | {"mesh": ["C535882"], "omim": ["147770"], "orphanet": ["2316"], "synonyms": ["Alternative titles", "JOHNSON-MCMILLIN SYNDROME", "ALOPECIA-ANOSMIA-DEAFNESS-HYPOGONADISM SYNDROME", "AADH SYNDROME"]} |
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
## Epidemiology
Prevalence is unknown. Only 14 cases have been reported to date.
## Clinical description
Disease onset occur... | Adult-onset dystonia-parkinsonism | c2751842 | 4,094 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199351 | 2021-01-23T18:11:58 | {"gard": ["12568"], "mesh": ["C567844"], "omim": ["612953"], "umls": ["C2751842"], "icd-10": ["G24.1"], "synonyms": ["Dystonia-parkinsonism, Paisan-Ruiz type", "PARK14", "PLA2G6-related dystonia-parkinsonism"]} |
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-12 (CORD12) is caused by homozygous or heterozygous mutation in the PROM1 gene (604365) on chromosome 4p15.
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.
Clinical... | CONE-ROD DYSTROPHY 12 | c3489532 | 4,095 | omim | https://www.omim.org/entry/612657 | 2019-09-22T16:00:53 | {"doid": ["0111019"], "mesh": ["D000071700"], "omim": ["120970", "612657"], "orphanet": ["1872"], "synonyms": []} |
A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as... | Leukoencephalopathy with calcifications and cysts | c3281200 | 4,096 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=542310 | 2021-01-23T18:24:49 | {"mesh": ["C000598644"], "omim": ["614561"], "synonyms": ["LCC", "Labrune syndrome"]} |
A number sign (#) is used with this entry because the serum level of interleukin-6 (IL6; 147620) is associated with a polymorphism in the gene encoding interleukin-6 receptor (147880) on chromosome 1q21.3.
Mapping
Circulating levels of inflammatory markers can predict cardiovascular disease risk. To identify genes ... | INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS | c3540094 | 4,097 | omim | https://www.omim.org/entry/614752 | 2019-09-22T15:54:17 | {"omim": ["614752"], "synonyms": ["Alternative titles", "IL6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS"]} |
For other uses, see Diarrhea (disambiguation).
Loose or liquid bowel movements
Diarrhea
Other namesDiarrhoea
An electron micrograph of rotavirus, the cause of nearly 40% of hospitalizations from diarrhea in children under five[1]
SpecialtyInfectious disease, gastroenterology
SymptomsLoose frequent bowel mov... | Diarrhea | c0013369 | 4,098 | wikipedia | https://en.wikipedia.org/wiki/Diarrhea | 2021-01-18T19:01:56 | {"mesh": ["D004403", "D003967"], "umls": ["C0013369"], "icd-10": ["K59.1", "A09"], "wikidata": ["Q40878"]} |
A number sign (#) is used with this entry because autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) is caused by a heterozygous tandem genomic duplication resulting in an extra copy of the lamin B1 gene (LMNB1; 150340) on chromosome 5q.
One family with a complex deletion upstream of the LMNB1 ge... | LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT | c3164344 | 4,099 | omim | https://www.omim.org/entry/169500 | 2019-09-22T16:36:30 | {"doid": ["0060785"], "omim": ["169500"], "orphanet": ["99027"], "synonyms": ["Alternative titles", "PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE, FORMERLY"], "genereviews": ["NBK338165"]} |
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