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## Summary
### Clinical characteristics.
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis... | Cardiofaciocutaneous Syndrome | c1275081 | 7,100 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1186/ | 2021-01-18T21:36:27 | {"mesh": ["C535579"], "synonyms": ["CFC Syndrome"]} |
Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some people have no symptoms, while o... | Lichen sclerosus | c0023652 | 7,101 | gard | https://rarediseases.info.nih.gov/diseases/6905/lichen-sclerosus | 2021-01-18T17:59:25 | {"mesh": ["D018459"], "omim": ["151590"], "umls": ["C0023652"], "orphanet": ["33409"], "synonyms": ["Lichen sclerosis", "Lichen sclerosis et atrophicus", "Lichen sclerosus et atrophicus"]} |
Wilson and Deitrick (1986) found no gallbladder in a 45-year-old mother and 23-year-old daughter. Kobacker (1950) proved agenesis of the gallbladder in 2 members of a family and suspected it from failure of visualization on oral cholecystography in 5 others. Nadeau et al. (1972) reported a family with 2 proved cases ... | GALLBLADDER, AGENESIS OF | c0266251 | 7,102 | omim | https://www.omim.org/entry/137040 | 2019-09-22T16:40:56 | {"mesh": ["C562564"], "omim": ["137040"], "icd-10": ["Q44.0"]} |
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare type of lymphoma that mainly affects the skin. Lymphomas are cancers that result from a type of white blood cell that grows out of control. In SPTCL, people develop multiple painless nodules in the fat layer under the skin and can these cause swelling. ... | Subcutaneous panniculitis-like T-cell lymphoma | c0522624 | 7,103 | gard | https://rarediseases.info.nih.gov/diseases/10193/subcutaneous-panniculitis-like-t-cell-lymphoma | 2021-01-18T17:57:29 | {"mesh": ["C537503"], "synonyms": ["SPTCL"]} |
## Summary
### Clinical characteristics.
Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild-to-moderate intellectual disability, and in some instances, autistic-like behaviors. Organ sy... | Myhre Syndrome | c0796081 | 7,104 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK425723/ | 2021-01-18T21:10:03 | {"mesh": ["C537620"], "synonyms": ["Laryngotracheal Stenosis", "Arthropathy", "Prognathism", "and Short Stature (LAPS) Syndrome; Myhre-LAPS Syndrome"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to microvascular complications of diabetes-5 is associated with variation in the PON1 gene (168820) on chromosome 7q21.3.
For a discussion of genetic heterogeneity of susceptibility to microvascular complications of diabetes, see MVCD1... | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 | c2674665 | 7,105 | omim | https://www.omim.org/entry/612633 | 2019-09-22T16:00:57 | {"omim": ["612633"], "synonyms": ["Alternative titles", "RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO"]} |
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type Iy (CDG1Y) is caused by hemizygous mutation in the SSR4 gene (300090) on chromosome Xq28.
For discussion of the classification of CDGs, see CDG1A (212065).
Clinical Features
Losfeld et al. (2014) reported a... | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy | c4012395 | 7,106 | omim | https://www.omim.org/entry/300934 | 2019-09-22T16:19:16 | {"doid": ["0080574"], "omim": ["300934"], "orphanet": ["370927"], "synonyms": ["CDG syndrome type Iy", "Congenital disorder of glycosylation type Iy", "CDG-Iy", "Congenital disorder of glycosylation type 1y", "CDG1Y", "CDG IY", "Alternative titles", "Carbohydrate deficient glycoprotein syndrome type Iy"], "genereviews"... |
Patellar subluxation syndrome
Other namesPatellar instability, Onstable kneecap
Patellar subluxation syndrome, is an injury that is concerned with the kneecap. Patellar subluxation is more common than patellar dislocation and is just as disabling.[1]
In this condition, the patella repetitively subluxates and ... | Patellar subluxation syndrome | c0857276 | 7,107 | wikipedia | https://en.wikipedia.org/wiki/Patellar_subluxation_syndrome | 2021-01-18T18:58:41 | {"umls": ["C0857276"], "wikidata": ["Q7144432"]} |
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: "Congenital epulis" – news · newspapers · books · scholar · JSTOR (April 2008) (Learn how and when to remove this templa... | Congenital epulis | c0376319 | 7,108 | wikipedia | https://en.wikipedia.org/wiki/Congenital_epulis | 2021-01-18T18:27:59 | {"mesh": ["D005887"], "umls": ["C0376319"], "orphanet": ["157826"], "wikidata": ["Q5160427"]} |
Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all f... | Trichorhinophalangeal syndrome type 3 | c1860823 | 7,109 | gard | https://rarediseases.info.nih.gov/diseases/7802/trichorhinophalangeal-syndrome-type-3 | 2021-01-18T17:57:18 | {"mesh": ["C566033"], "omim": ["190351"], "umls": ["C1860823"], "orphanet": ["77258"], "synonyms": ["TRPS 3", "Sugio-Kajii Syndrome"]} |
Voice disorder
Hoarse voice
Other namesHoarseness, dysphonia
The vocal folds (or vocal cords) in the larynx vibrate to produce sound. When this process is disturbed hoarseness may ensue.
SpecialtyOtolaryngology
A hoarse voice, also known as dysphonia or hoarseness,[1] is when the voice involuntarily sound... | Hoarse voice | c1527344 | 7,110 | wikipedia | https://en.wikipedia.org/wiki/Hoarse_voice | 2021-01-18T18:53:39 | {"mesh": ["D055154"], "umls": ["C1527344"], "icd-9": ["784.42"], "icd-10": ["R49"], "wikidata": ["Q836379"]} |
Laryngoonychocutaneous syndrome
SpecialtyDermatology
Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare epithelial disorder inherited in an autosomal recessive fashion.[1][2] It is characterized by abnormalities in the larynx, nails ("onycho-"), and skin ("cutaneous").[3] The diso... | Laryngo-onycho-cutaneous syndrome | c1328355 | 7,111 | wikipedia | https://en.wikipedia.org/wiki/Laryngo-onycho-cutaneous_syndrome | 2021-01-18T19:06:59 | {"mesh": ["C537032"], "umls": ["C1328355"], "orphanet": ["2407"], "wikidata": ["Q6491971"]} |
Aspermia
SpecialtyUrology
Aspermia is the complete lack of semen with ejaculation (not to be confused with azoospermia, the lack of sperm cells in the semen). It is associated with infertility.
One of the causes of aspermia is retrograde ejaculation,[1] which can be brought on by excessive drug use, or as... | Aspermia | c1704202 | 7,112 | wikipedia | https://en.wikipedia.org/wiki/Aspermia | 2021-01-18T18:39:27 | {"mesh": ["D053714"], "icd-9": ["606.0"], "icd-10": ["N46"], "wikidata": ["Q736599"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to sarcoidosis-2 (SS2) is conferred by variation in the BTNL2 gene (606000) on chromosome 6p21.
For a general description and a discussion of genetic heterogeneity of sarcoidosis, see 181000.
Mapping
Valentonyte et al. (2005) not... | SARCOIDOSIS, SUSCEPTIBILITY TO, 2 | c0036202 | 7,113 | omim | https://www.omim.org/entry/612387 | 2019-09-22T16:01:36 | {"mesh": ["D012507"], "omim": ["612387"], "orphanet": ["797"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (incl... | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | c4085597 | 7,114 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444077 | 2021-01-23T17:56:21 | {"gard": ["12845"], "omim": ["616368"], "icd-10": ["Q87.8"], "synonyms": ["CHOPS syndrome"]} |
A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impai... | Autosomal recessive spastic paraplegia type 78 | c4310662 | 7,115 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=513436 | 2021-01-23T17:00:47 | {"omim": ["617225"], "synonyms": ["SPG78"]} |
A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).
## Epidemiology
Annual incidence of IATM is estimated between 1/1,000,000 and 1/250,000. Incidence of SATM is variable and depends of the underlying disease.
## Clinical descript... | Acute transverse myelitis | c0270627 | 7,116 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139417 | 2021-01-23T18:32:21 | {"mesh": ["D009188"], "umls": ["C0270627"], "icd-10": ["G37.3"]} |
Disorder caused due to injury to the spinal accessory nerve (11th cranial nerve or Cranial Nerve XI)
Accessory nerve disorder
Other namesSpinal accessory nerve palsy
Muscles innervated by the accessory nerve
SpecialtyNeurology
Accessory nerve disorder is an injury to the spinal accessory nerve which resul... | Accessory nerve disorder | c0152180 | 7,117 | wikipedia | https://en.wikipedia.org/wiki/Accessory_nerve_disorder | 2021-01-18T18:43:01 | {"mesh": ["D020436"], "umls": ["C0152180"], "icd-10": ["G52.8", "S04.7"], "wikidata": ["Q4672538"]} |
Trichorrhexis nodosa
Other namesHair shaft fracture[1]
Tricho-hepato-enteric syndrome: Microscopic analysis of the hair shaft showing breaks located at nodes in the hair (trichorrhexis nodosa) and longitudinal breaks.
SpecialtyDermatology
Trichorrhexis nodosa is a defect in the hair shaft characterized... | Trichorrhexis nodosa | c0263485 | 7,118 | wikipedia | https://en.wikipedia.org/wiki/Trichorrhexis_nodosa | 2021-01-18T18:36:25 | {"umls": ["C0263485"], "icd-9": ["704.2"], "icd-10": ["L67.0"], "wikidata": ["Q7840966"]} |
Penile discharge
This male presented with a purulent penile discharge due to gonorrhea with an overlying penile pyodermal lesion. Pyoderma involves the formation of a purulent skin lesion, in this case located on the glans penis, and overlying the sexually transmitted disease gonorrhea.[1]
SymptomsFluid from ... | Penile discharge | c0232861 | 7,119 | wikipedia | https://en.wikipedia.org/wiki/Penile_discharge | 2021-01-18T18:41:15 | {"umls": ["C0232861"], "icd-10": ["R36"], "wikidata": ["Q5803863"]} |
Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.
In Leydig cell hypo... | Leydig cell hypoplasia | c2673497 | 7,120 | medlineplus | https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/ | 2021-01-27T08:25:14 | {"gard": ["3244"], "mesh": ["C562567"], "omim": ["238320"], "synonyms": []} |
Functional gastrointestinal disorder
Other namesDisorders of gut–brain interaction
SpecialtyGastroenterology
Functional gastrointestinal disorders (FGID), also known as disorders of gut–brain interaction, include a number of separate idiopathic disorders which affect different parts of the gastrointestinal t... | Functional gastrointestinal disorder | c0017178 | 7,121 | wikipedia | https://en.wikipedia.org/wiki/Functional_gastrointestinal_disorder | 2021-01-18T19:04:03 | {"mesh": ["D005767"], "wikidata": ["Q5508825"]} |
Uterine adenosarcoma
Other namesAdenosarcoma of the uterus, Müllerian adenosarcoma of the uterus
Micrograph of a uterine adenosarcoma showing a mitotically active malignant stroma and benign glands. H&E stain.
SpecialtyGynecology
Uterine adenosarcoma is an uncommon form of cancer that arises from mesenchym... | Uterine adenosarcoma | c2103110 | 7,122 | wikipedia | https://en.wikipedia.org/wiki/Uterine_adenosarcoma | 2021-01-18T18:55:46 | {"gard": ["9636"], "mesh": ["C538232"], "umls": ["C2103110"], "wikidata": ["Q7902645"]} |
Proopiomelanocortin (POMC) deficiency is characterized by severe obesity that begins at an early age. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding and weight gain during the first year and throughout life. In addition, people with this con... | Proopiomelanocortin deficiency | c1857854 | 7,123 | gard | https://rarediseases.info.nih.gov/diseases/10823/proopiomelanocortin-deficiency | 2021-01-18T17:58:07 | {"mesh": ["C565726"], "omim": ["609734"], "orphanet": ["71526"], "synonyms": ["Obesity, early-onset, adrenal insufficiency, and red hair", "POMC deficiency", "Obesity due to pro-opiomelanocortin deficiency"]} |
A number sign (#) is used with this entry because of evidence that hyperphosphatemic familial tumoral calcinosis-3 (HFTC3) is caused by homozygous mutation in the KL gene (604824) on chromosome 13q13. One such patient has been reported.
Description
Hyperphosphatemic familial tumoral calcinosis is a rare autosomal r... | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 | c4693864 | 7,124 | omim | https://www.omim.org/entry/617994 | 2019-09-22T15:44:06 | {"omim": ["617994", "211900"], "orphanet": ["306661"], "synonyms": ["Hypercalcemic tumoral calcinosis"]} |
Bladder cancer in cats and dogs usually is transitional cell carcinoma,[1] which arises from the epithelial cells that line the bladder. Less often, cancer of the urinary bladder is squamous cell carcinoma, adenocarcinoma, or rhabdomyosarcoma.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
*... | Bladder cancer in cats and dogs | None | 7,125 | wikipedia | https://en.wikipedia.org/wiki/Bladder_cancer_in_cats_and_dogs | 2021-01-18T18:53:22 | {"wikidata": ["Q4923664"]} |
Familial British dementia
SpecialtyPsychiatry
Familial British dementia is a form of dementia. It was first reported by Cecil Charles Worster-Drought in 1933 [1] and is therefore also known as Worster-Drought syndrome. It is caused by a mutation in the ITM2B gene (also known as BRI2); a different mutation of t... | Familial British dementia | c1867773 | 7,126 | wikipedia | https://en.wikipedia.org/wiki/Familial_British_dementia | 2021-01-18T18:40:10 | {"gard": ["8344"], "mesh": ["C538208"], "orphanet": ["97345"], "wikidata": ["Q5432926"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is caused by homozygous mutation in the TBC1D7 gene (612655) on chromosome 6p24.
Description
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bone... | MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE | c0221355 | 7,127 | omim | https://www.omim.org/entry/248000 | 2019-09-22T16:25:44 | {"mesh": ["D058627"], "omim": ["248000"], "orphanet": ["2477"]} |
X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and ma... | X-linked intellectual disability-acromegaly-hyperactivity syndrome | None | 7,128 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85327 | 2021-01-23T19:11:45 | {"icd-10": ["Q87.8"]} |
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).
## Epidemiology
Prevalence is unknown but the syndrome was originally described in 1988 in six males fro... | Carpenter-Waziri syndrome | c0796003 | 7,129 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93973 | 2021-01-23T18:46:19 | {"mesh": ["C537457"], "omim": ["309580"]} |
Intraocular melanoma is a cancer of the pigment-producing cells (melanocytes) in the middle layer of the eye, called the uveal tract. The uveal tract has 3 main parts: (1) the choroid (the tissue layer filled with blood vessels); (2) the ciliary body (the ring of muscle tissue that changes the size of the pupil and t... | Intraocular melanoma | c0220633 | 7,130 | gard | https://rarediseases.info.nih.gov/diseases/8621/intraocular-melanoma | 2021-01-18T17:59:44 | {"mesh": ["C536494"], "omim": ["155720"], "umls": ["C0220633"], "orphanet": ["39044"], "synonyms": ["Melanoma of the Uvea", "Uveal melanoma"]} |
See TIM10 (602251) and Koehler et al. (1998).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR... | MITOCHONDRIAL INTERMEMBRANE SPACE PROTEIN TIM12, YEAST, HOMOLOG OF | c1865698 | 7,131 | omim | https://www.omim.org/entry/602252 | 2019-09-22T16:13:52 | {"omim": ["602252"]} |
A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal failure.
*[v]: View this template
*[t... | Renal hypoplasia, bilateral | c0431692 | 7,132 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97362 | 2021-01-23T17:15:51 | {"umls": ["C0431692"], "icd-10": ["Q60.4"]} |
Hereditary disease characterized by involuntary painful muscle contractions resulting in uncontrollable distortions
Torsion dystonia
Other namesDystonia musculorum deformans
SpecialtyNeurology
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contrac... | Torsion dystonia | c0013423 | 7,133 | wikipedia | https://en.wikipedia.org/wiki/Torsion_dystonia | 2021-01-18T19:06:06 | {"mesh": ["D004422"], "icd-9": ["333.6"], "icd-10": ["G24.1"], "wikidata": ["Q656199"]} |
Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement... | Primary systemic amyloidosis | c0268381 | 7,134 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314701 | 2021-01-23T16:56:30 | {"mesh": ["D000075363"], "omim": ["254500"], "icd-10": ["E85.0", "E85.1", "E85.2", "E85.3"], "synonyms": ["Systemic AL amyloidosis"]} |
## Clinical Features
Felman (1969) described a black father and his son and daughter with epiphyseal and vertebral dysplasia producing severe scoliosis and truncal shortening as well as complete destruction of the femoral capital epiphyses and necks. The hands and feet were short and stubby. Clinically and radiolog... | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT | c1866717 | 7,135 | omim | https://www.omim.org/entry/184100 | 2019-09-22T16:34:23 | {"mesh": ["C566658"], "omim": ["184100"], "orphanet": ["93284"], "synonyms": []} |
Cutaneous diphtheria infection
SpecialtyInfectious disease
Cutaneous diphtheria is an infection of the skin by Corynebacterium diphtheriae.[1]:265 It is also known as "desert sore".[2]
## See also[edit]
* Diphtheria
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. ... | Cutaneous diphtheria infection | c0012555 | 7,136 | wikipedia | https://en.wikipedia.org/wiki/Cutaneous_diphtheria_infection | 2021-01-18T18:49:27 | {"umls": ["C0012555"], "wikidata": ["Q5196693"]} |
Sympathetic uveitis
Other namesspared eye injury
SpecialtyOphthalmology
Symptomsfloaters, photophobia
Complicationsuveitis, blindness
Sympathetic ophthalmia (SO), also called spared eye injury, is a diffuse granulomatous inflammation of the uveal layer of both eyes following trauma to one eye. It can... | Sympathetic ophthalmia | c0029077 | 7,137 | wikipedia | https://en.wikipedia.org/wiki/Sympathetic_ophthalmia | 2021-01-18T18:30:15 | {"mesh": ["D009879"], "umls": ["C0029077"], "orphanet": ["79098"], "wikidata": ["Q2037487"]} |
## Clinical Features
Fitzsimmons et al. (1983) reported mental retardation with spastic paraplegia and palmoplantar hyperkeratosis in 4 brothers whose ages ranged from 16 to 35 years at the time of report. Pes cavus was striking. The mother was of normal intelligence but had plantar hyperkeratosis and a strong ... | MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS | c2745996 | 7,138 | omim | https://www.omim.org/entry/309560 | 2019-09-22T16:17:49 | {"mesh": ["C537058"], "omim": ["309560"], "orphanet": ["2824"]} |
Rare X-linked form of chondrodysplasia punctata
Conradi–Hünermann syndrome
Other names"Conradi–Hünermann–Happle syndrome",[1]:500 "Happle syndrome,"[2] and "X-linked dominant chondrodysplasia punctata"[2]
SpecialtyMedical genetics
Conradi–Hünermann syndrome is a rare type of chondrodysplasia punctata. It is... | Conradi–Hünermann syndrome | None | 7,139 | wikipedia | https://en.wikipedia.org/wiki/Conradi%E2%80%93H%C3%BCnermann_syndrome | 2021-01-18T18:58:40 | {"icd-9": ["756.59"], "icd-10": ["Q77.3"], "wikidata": ["Q2964437"]} |
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion o... | Proximal myopathy with focal depletion of mitochondria | c1833453 | 7,140 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=521305 | 2021-01-23T16:54:56 | {"mesh": ["C563453"], "omim": ["600706"]} |
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blind... | Severe early-childhood-onset retinal dystrophy | c1858080 | 7,141 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=364055 | 2021-01-23T19:03:16 | {"mesh": ["C565741"], "umls": ["C1858080"], "icd-10": ["H35.5"], "synonyms": ["EOSRD", "Early-onset severe retinal dystrophy", "SECORD"]} |
Granulomatous facial dermatitis is found in patients with persistent facial erythema involving one or more convex surfaces of the face, with lesions that show granulomatous reaction histologically.[1]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; El... | Granulomatous facial dermatitis | None | 7,142 | wikipedia | https://en.wikipedia.org/wiki/Granulomatous_facial_dermatitis | 2021-01-18T18:52:27 | {"wikidata": ["Q5596831"]} |
Craniofrontonasal dysplasia is a rare genetic condition with several skeletal defects. Main features of this condition include widely spaced eyes (hypertelorism), bifid tip of the nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, abnoral form of the eyebrow, and... | Craniofrontonasal dysplasia | c0220767 | 7,143 | gard | https://rarediseases.info.nih.gov/diseases/1578/craniofrontonasal-dysplasia | 2021-01-18T18:01:03 | {"mesh": ["C536456"], "omim": ["304110"], "umls": ["C0220767"], "orphanet": ["1520"], "synonyms": ["Craniofrontonasal syndrome", "CFNS", "CFND", "Craniofrontonasal dysostosis"]} |
Chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure
Pressure ulcer
Other namesDecubiti, decubitus, or decubitous ulcers, pressure injuries, pressure sores, bedsores
Stage IV decubitus displaying the tuberosity of the ischium protruding through ... | Pressure ulcer | c0011127 | 7,144 | wikipedia | https://en.wikipedia.org/wiki/Pressure_ulcer | 2021-01-18T18:29:06 | {"mesh": ["D003668"], "umls": ["C0011127"], "wikidata": ["Q308978"]} |
Coats disease is an eye disorder characterized by abnormal development of the blood vessels in the retina (retinal telangiectasia). Most people begin showing symptoms in childhood. Early signs and symptoms vary but may include vision loss, "crossed eyes" (strabismus), and a white mass in the pupil behind the lens... | Coats disease | c0154832 | 7,145 | gard | https://rarediseases.info.nih.gov/diseases/6121/coats-disease | 2021-01-18T18:01:16 | {"mesh": ["D058456"], "omim": ["300216"], "umls": ["C0154832"], "orphanet": ["190"], "synonyms": ["Retinal telangiectasis", "Leber miliary aneurysm"]} |
HIV-associated lipodystrophy
Other namesLipodystrophy in HIV-infected patients (LD-HIV)
SpecialtyImmunology, dermatology, infectious disease, endocrinology
HIV-associated lipodystrophy, is a condition characterized by loss of subcutaneous fat associated with infection with HIV.[1]:497
## Contents
* 1 Pre... | HIV-associated lipodystrophy | c1136321 | 7,146 | wikipedia | https://en.wikipedia.org/wiki/HIV-associated_lipodystrophy | 2021-01-18T18:28:48 | {"mesh": ["D039682"], "wikidata": ["Q5629813"]} |
"Pustule" redirects here. It is not to be confused with Boil.
See also: List of cutaneous conditions
Skin condition
Other namesCutaneous condition
3D medical illustration showing major layers of skin
SpecialtyDermatology
CausesSun exposure, vitamin deficiencies, substance usage, poor hygiene, cancers
... | Skin condition | c0037277 | 7,147 | wikipedia | https://en.wikipedia.org/wiki/Skin_condition | 2021-01-18T18:59:27 | {"mesh": ["D012871", "D012873"], "umls": ["C0037277", "C0037274", "C0029574"], "icd-10": ["L98.9"], "wikidata": ["Q949302"]} |
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome-5 (OFD5) is caused by homozygous mutation in the DDX59 gene (615464) on chromosome 1q32.
Clinical Features
Rischbieth (1910) pictured a Hindu patient with postaxial polydactyly and median cleft of the upper lip. His brot... | OROFACIODIGITAL SYNDROME V | c1868118 | 7,148 | omim | https://www.omim.org/entry/174300 | 2019-09-22T16:36:03 | {"doid": ["0060375"], "mesh": ["C557819"], "omim": ["174300"], "orphanet": ["2919"], "synonyms": ["Alternative titles", "OFDS V", "ORAL-FACIAL-DIGITAL SYNDROME, TYPE V", "OROFACIODIGITAL SYNDROME, THURSTON TYPE", "THURSTON SYNDROME", "POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP"]} |
Double vision
"Double vision" redirects here. For other uses, see Double vision (disambiguation).
Diplopia
Other namesDouble vision
One way a person might experience double vision
SpecialtyNeurology, ophthalmology
Diplopia is the simultaneous perception of two images of a single object that may be displa... | Diplopia | c0012569 | 7,149 | wikipedia | https://en.wikipedia.org/wiki/Diplopia | 2021-01-18T18:41:42 | {"mesh": ["D004172"], "umls": ["C0012569"], "icd-9": ["368.2"], "icd-10": ["H53.2"], "wikidata": ["Q775940"]} |
Infection that is acquired in a hospital or other health care facility
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 needs additional citations for verification. Please help improve this arti... | Hospital-acquired infection | c0205721 | 7,150 | wikipedia | https://en.wikipedia.org/wiki/Hospital-acquired_infection | 2021-01-18T18:41:50 | {"mesh": ["D003428"], "umls": ["C0205721"], "icd-10": ["Y95"], "wikidata": ["Q215509"]} |
Infective endocarditis
Other namesBacterial endocarditis
A mitral valve vegetation caused by bacterial endocarditis.
SpecialtyCardiology, Infectious disease
SymptomsFever, small areas of bleeding into the skin, heart murmur, feeling tired, low red blood cells[1]
ComplicationsValvular insufficiency, hear... | Infective endocarditis | c1541923 | 7,151 | wikipedia | https://en.wikipedia.org/wiki/Infective_endocarditis | 2021-01-18T18:57:47 | {"gard": ["6337"], "mesh": ["D004696"], "umls": ["C1541923", "C0014118"], "icd-9": ["421.1", "421.0"], "icd-10": ["I33"], "wikidata": ["Q2450598"]} |
A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
## Epidemiology
The prevalence of Oculocutaneous albinism type 2 (OCA2) is estimated at 1/38,000-1/40,000 in most population... | Oculocutaneous albinism type 2 | c0268495 | 7,152 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79432 | 2021-01-23T18:27:58 | {"gard": ["4038"], "mesh": ["C537730"], "omim": ["203200"], "umls": ["C0268495"], "icd-10": ["E70.3"], "synonyms": ["OCA2"]} |
A number sign (#) is used with this entry because of evidence that Shprintzen-Goldberg craniosynostosis syndrome (SGS) is caused by heterozygous mutation in the SKI gene (164780) on chromosome 1p36.
Description
Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal... | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | c1321551 | 7,153 | omim | https://www.omim.org/entry/182212 | 2019-09-22T16:34:51 | {"doid": ["2340"], "mesh": ["C537328"], "omim": ["182212"], "orphanet": ["2462"], "synonyms": ["Alternative titles", "CRANIOSYNOSTOSIS WITH ARACHNODACTYLY AND ABDOMINAL HERNIAS", "MARFANOID DISORDER WITH CRANIOSYNOSTOSIS, TYPE I", "MARFANOID CRANIOSYNOSTOSIS SYNDROME"], "genereviews": ["NBK1277"]} |
A number sign (#) is used with this entry because susceptibility to the development of autosomal dominant Parkinson disease-13 may be conferred by heterozygous mutation in the HTRA2 gene (606441) on chromosome 2p13.
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (... | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | c1853202 | 7,154 | omim | https://www.omim.org/entry/610297 | 2019-09-22T16:04:43 | {"omim": ["610297"], "orphanet": ["2828"], "synonyms": ["Early-onset Parkinson disease", "YOPD"], "genereviews": ["NBK1223"]} |
Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).
## Epidemiology
Data regarding prevalence in Europe are not available.
## Clinical description
Serotoninergic synd... | Serotonin syndrome | c0699828 | 7,155 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=43116 | 2021-01-23T17:12:45 | {"mesh": ["D020230"], "umls": ["C0699828"], "synonyms": ["Serotonergic syndrome", "Serotonin storm", "Serotonin toxicity", "Serotonin toxidrome"]} |
Tuffli and Laxova (1983) observed a 15-year-old boy with aplasia cutis verticis, hypohidrosis, nipple hypoplasia, onychodysplasia and delayed dental eruption with minor tooth anomalies who developed a large left adrenal cyst. The mother had similar changes of ectodermal dysplasia (including breast hypoplasia and lack... | ECTODERMAL DYSPLASIA WITH ADRENAL CYST | c1851850 | 7,156 | omim | https://www.omim.org/entry/129550 | 2019-09-22T16:41:54 | {"mesh": ["C538015"], "omim": ["129550"], "orphanet": ["3391"]} |
A - Cabot ring
B - Howell-Jolly body
Cabot ring
Cabot rings are thin, red-violet staining, threadlike strands in the shape of a loop or figure-8 that are found on rare occasions in red blood cells (erythrocytes). They are believed to be microtubules that are remnants from a mitotic spindle, and their presence ind... | Cabot rings | c0333813 | 7,157 | wikipedia | https://en.wikipedia.org/wiki/Cabot_rings | 2021-01-18T18:52:23 | {"umls": ["C0333813"], "wikidata": ["Q4892104"]} |
Daum et al. (1958) described a 6-month-old child with frontal bone protrusion, encephalocele, craniosynostosis, and developmental retardation. Jabbour and Taybi (1964) reported a similarly affected child whose condition they designated craniotelencephalic dysplasia. Hughes et al. (1983) reported 2 affected sister... | CRANIOTELENCEPHALIC DYSPLASIA | c1857471 | 7,158 | omim | https://www.omim.org/entry/218670 | 2019-09-22T16:29:14 | {"mesh": ["C535597"], "omim": ["218670"], "orphanet": ["1528"]} |
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The di... | Muscular dystrophy | c0026850 | 7,159 | gard | https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy | 2021-01-18T17:58:52 | {"mesh": ["D009136"], "umls": ["C0026850"], "synonyms": []} |
A number sign (#) is used with this entry because dystonia-25 (DYT25) is caused by heterozygous mutation in the GNAL gene (139312) on chromosome 18p11.
Description
Dystonia-25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most o... | DYSTONIA 25 | c3554447 | 7,160 | omim | https://www.omim.org/entry/615073 | 2019-09-22T15:53:15 | {"doid": ["0090055"], "omim": ["615073"], "orphanet": ["329466"], "synonyms": ["DYT25", "Dystonia 25"], "genereviews": ["NBK535640"]} |
Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.
## Epidemiology
The disease is rare, but the exact prevalence is unknown.
## Clinical description
Onset usually occurs between 30 ... | Jessner lymphocytic infiltration of the skin | c0580181 | 7,161 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33314 | 2021-01-23T18:29:13 | {"gard": ["6940"], "umls": ["C0580181"], "icd-10": ["L98.6"], "synonyms": ["Jessner-Kanof lymphocytic infiltration of the skin"]} |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-35 (SPGF35) is caused by homozygous mutation in the QRICH2 gene (618304) on chromosome 17q25.
Description
Spermatogenic failure-35 is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in sper... | SPERMATOGENIC FAILURE 35 | None | 7,162 | omim | https://www.omim.org/entry/618341 | 2019-09-22T15:42:27 | {"omim": ["618341"]} |
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a disorder that affects the brain. LTBL is one of a group of genetic disorders called leukodystrophies, which feature abnormalities of the nervous system's white matter. White matter consists of nerve fibers covered by a fatty subs... | Leukoencephalopathy with thalamus and brainstem involvement and high lactate | c3554079 | 7,163 | medlineplus | https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate/ | 2021-01-27T08:24:53 | {"omim": ["614924"], "synonyms": []} |
A clinical photograph showing a patient with the flexed posture. It can be abated when lying down.[1]
Camptocormia, also known as bent spine syndrome (BSS), is a symptom of a multitude of diseases that is most commonly seen in the elderly. It is identified by an abnormal thoracolumbar spinal flexion, which is a forw... | Camptocormia | c0264162 | 7,164 | wikipedia | https://en.wikipedia.org/wiki/Camptocormia | 2021-01-18T18:50:47 | {"mesh": ["C537968"], "wikidata": ["Q1723395"]} |
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-21 (CILD21) is caused by homozygous mutation in the DRC1 gene (615288) on chromosome 2p23.
Description
Primary ciliary dyskinesia-21 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulm... | CILIARY DYSKINESIA, PRIMARY, 21 | c0022521 | 7,165 | omim | https://www.omim.org/entry/615294 | 2019-09-22T15:52:36 | {"doid": ["0110596"], "mesh": ["D007619"], "omim": ["244400", "615294"], "orphanet": ["244"], "synonyms": ["Alternative titles", "PCD", "CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS"], "genereviews": ["NBK1122"]} |
A red oscar that has died while showing HLLE
Head and lateral line erosion, (HLLE) or hole-in-the-head (HITH) is a disease in fish. Chronic ulcerative dermatopathy or chronic erosive dermatopathy are symptoms of similar conditions with different etiology.
## Contents
* 1 Symptoms
* 2 Causes
* 3 Cure
* 4 Re... | Head and lateral line erosion | None | 7,166 | wikipedia | https://en.wikipedia.org/wiki/Head_and_lateral_line_erosion | 2021-01-18T18:28:31 | {"wikidata": ["Q5689273"]} |
Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that worsen... | Potassium-aggravated myotonia | c2931826 | 7,167 | medlineplus | https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia/ | 2021-01-27T08:25:02 | {"gard": ["4459"], "mesh": ["C538353"], "omim": ["608390"], "synonyms": []} |
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. (April 2009) (Learn how and when to remove this template message)
Juvenile dermatomyositis ... | Juvenile dermatomyositis | c0263666 | 7,168 | wikipedia | https://en.wikipedia.org/wiki/Juvenile_dermatomyositis | 2021-01-18T18:38:38 | {"gard": ["6805"], "mesh": ["D003882"], "umls": ["C0263666"], "orphanet": ["93672"], "wikidata": ["Q6318950"]} |
A number sign (#) is used with this entry because glutathione synthetase deficiency, or 5-oxoprolinuria, is caused by homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS; 601002) on chromosome 20q11. The same gene is mutant in hemolytic anemia due to glutathione synthetas... | GLUTATHIONE SYNTHETASE DEFICIENCY | c0398746 | 7,169 | omim | https://www.omim.org/entry/266130 | 2019-09-22T16:23:01 | {"mesh": ["C536835"], "omim": ["266130"], "orphanet": ["32", "289846"], "synonyms": ["Alternative titles", "5-OXOPROLINURIA", "PYROGLUTAMIC ACIDURIA"]} |
A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.
## Epidemiology
The annual incidence of MF and its variants is estimated at between 1/350,000 and 1/110,000, w... | Folliculotropic mycosis fungoides | c1627767 | 7,170 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178512 | 2021-01-23T18:11:13 | {"umls": ["C1627767"], "icd-10": ["C84.0"], "synonyms": ["Mycosis fungoides-associated follicular mucinosis"]} |
A number sign (#) is used with this entry because of evidence that ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) is caused by homozygous mutation in the CLDN1 gene (603718) on chromosome 3q28.
Clinical Features
Baala et al. (2002) described a novel autosomal recessive ichthyosis synd... | ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS | c1843355 | 7,171 | omim | https://www.omim.org/entry/607626 | 2019-09-22T16:09:00 | {"mesh": ["C564365"], "omim": ["607626"], "orphanet": ["59303"], "synonyms": ["Alternative titles", "ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME", "NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME", "NISCH SYNDROME"]} |
Aman vibhore
SpecialtyHematology and oncology
Accelerated phase chronic myelogenous leukemia is a phase of chronic myelogenous leukemia in which the disease is progressing.[1] In this phase, 10 to 19% of the cells in the blood and bone marrow are blast cells (immature blood cells). In the accelerated phase, th... | Accelerated phase chronic myelogenous leukemia | c0023472 | 7,172 | wikipedia | https://en.wikipedia.org/wiki/Accelerated_phase_chronic_myelogenous_leukemia | 2021-01-18T18:45:15 | {"mesh": ["D015465"], "wikidata": ["Q268832"]} |
Mosquito bite allergies (MBA), also termed hypersensitivity to mosquito bites (HMB), are excessive reactions of varying severity to mosquito bites.
Circumscribed erythema related to severe mosquito bite allergy.
MBA are not caused by any toxin or pathogen in the saliva injected by a female mosquito at the time ... | Mosquito bite allergy | c0277369 | 7,173 | wikipedia | https://en.wikipedia.org/wiki/Mosquito_bite_allergy | 2021-01-18T18:58:36 | {"umls": ["C0277369"], "wikidata": ["Q4246325"]} |
Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic c... | Isolated glycerol kinase deficiency | c0268418 | 7,174 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=408 | 2021-01-23T17:21:40 | {"gard": ["2807"], "mesh": ["C538138"], "omim": ["307030"], "umls": ["C0268418", "C0574108"], "icd-10": ["E74.8"], "synonyms": ["Hyperglycerolemia"]} |
## Clinical Features
Townes et al. (1988) described a sibship in which there were twins with anencephaly and a female infant with aprosencephaly, fused humerus and radius, and oligodactyly. Townes et al. (1988) suggested that the XK aprosencephaly syndrome may be an autosomal recessive disorder. The authors noted t... | APROSENCEPHALY SYNDROME | c0431348 | 7,175 | omim | https://www.omim.org/entry/207770 | 2019-09-22T16:30:52 | {"omim": ["207770"], "orphanet": ["3469"], "synonyms": ["Alternative titles", "XK SYNDROME", "GARCIA-LURIE SYNDROME"]} |
Human disease
Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis occurs when the thyroid gland releases excessive amounts of thyroxine (thyroid hormone).
SpecialtyEndocrinology
Thyrotoxic periodic paralysis (TPP) is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism... | Thyrotoxic periodic paralysis | c2749982 | 7,176 | wikipedia | https://en.wikipedia.org/wiki/Thyrotoxic_periodic_paralysis | 2021-01-18T18:55:15 | {"gard": ["10814"], "umls": ["C2749982", "C0268446"], "icd-9": ["359.3"], "icd-10": ["G72.3"], "orphanet": ["79102"], "wikidata": ["Q2702863"]} |
A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if le... | Biotin-thiamine-responsive basal ganglia disease | c1843807 | 7,177 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65284 | 2021-01-23T19:07:20 | {"gard": ["10237"], "mesh": ["C537658"], "omim": ["607483"], "umls": ["C1843807"], "icd-10": ["G93.8"], "synonyms": ["BBGD", "BTBGD", "Biotin-responsive basal ganglia disease"]} |
Complication of pregnancy associated with severe pre-eclampsia
HELLP syndrome
SpecialtyObstetrics
SymptomsFeeling tired, retaining fluid, headache, nausea, upper abdominal pain, blurry vision, seizures[1]
ComplicationsDisseminated intravascular coagulation (DIC), placental abruption, kidney failure, pulmonary ... | HELLP syndrome | c0162739 | 7,178 | wikipedia | https://en.wikipedia.org/wiki/HELLP_syndrome | 2021-01-18T18:57:40 | {"gard": ["8528"], "mesh": ["D017359"], "umls": ["C0162739"], "orphanet": ["244242"], "wikidata": ["Q1563513"]} |
Autoimmune progesterone dermatitis
SpecialtyDermatology
Autoimmune progesterone dermatitis may appear as urticarial papules, deep gyrate lesions, papulovesicular lesions, an eczematous eruption, or as targetoid lesions.[1]:82 Autoimmune progesterone dermatitis initially manifests with eye symptoms, e.g. bu... | Autoimmune progesterone dermatitis | c1260879 | 7,179 | wikipedia | https://en.wikipedia.org/wiki/Autoimmune_progesterone_dermatitis | 2021-01-18T19:05:58 | {"gard": ["9139"], "mesh": ["C535299"], "umls": ["C1260879"], "wikidata": ["Q4826347"]} |
A number sign (#) is used with this entry because of evidence that erythrokeratodermia variabilis et progressiva-5 (EKVP5) is caused by homozygous mutation in the KRT83 gene (602765) on chromosome 12q13. One such family has been reported.
For a general phenotypic description and discussion of genetic heterogenei... | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 | c4540331 | 7,180 | omim | https://www.omim.org/entry/617756 | 2019-09-22T15:44:56 | {"doid": ["0080251"], "omim": ["617756"], "orphanet": ["316"], "synonyms": ["Darier-Gottron disease", "Erythrokeratodermia progressiva symmetrica", "Progressive symmetric erythrokeratodermia, Gottron type"]} |
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Sexual anhedonia" – news · newspapers · books · scholar · JSTOR (April 2013)
Sexual anhedonia, also know... | Sexual anhedonia | c0234019 | 7,181 | wikipedia | https://en.wikipedia.org/wiki/Sexual_anhedonia | 2021-01-18T18:28:27 | {"umls": ["C0234019"], "icd-10": ["F52.0"], "wikidata": ["Q7458756"]} |
A number sign (#) is used with this entry because of evidence that frontotemporal dementia and/or amyotrophic lateral sclerosis-4 (FTDALS4) is caused by heterozygous mutation in the TBK1 gene (604834) on chromosome 12q14.
Description
Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal... | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 | c3888102 | 7,182 | omim | https://www.omim.org/entry/616439 | 2019-09-22T15:48:54 | {"doid": ["0110069"], "mesh": ["C566288"], "omim": ["616439"], "orphanet": ["275872"]} |
Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.
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*[c.]: circa
*[AA]:... | Ollier disease | c0014084 | 7,183 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=296 | 2021-01-23T18:12:48 | {"gard": ["7251"], "mesh": ["D004687"], "omim": ["166000"], "umls": ["C0013366", "C0014084"], "icd-10": ["Q78.4"], "synonyms": ["Dyschondroplasia"]} |
On the basis of a family in which 3 brothers and their maternal grandfather were affected, Middleton et al. (1975) concluded that an X-linked form may exist. None of 3 sisters was affected. See 193000.
GU \- Vesicoureteral reflux Inheritance \- X-linked ▲ Close
*[v]: View this template
*[t]: Discuss this tem... | VESICOURETERAL REFLUX, X-LINKED | c1839114 | 7,184 | omim | https://www.omim.org/entry/314550 | 2019-09-22T16:17:04 | {"mesh": ["C564042"], "omim": ["314550"]} |
Fissure of the nipple
An irritated nipple, or jogger's nipple, acquired while riding a bike on a warm day.
Fissure of the nipple, colloquially referred to as "jogger's nipple", is a condition that is the result of irritation of one or both nipples as the result of chafing, the friction of clothing against the ... | Fissure of the nipple | c0152453 | 7,185 | wikipedia | https://en.wikipedia.org/wiki/Fissure_of_the_nipple | 2021-01-18T18:28:44 | {"umls": ["C0152453"], "icd-9": ["611.2"], "icd-10": ["N64.0", "O92.1"], "wikidata": ["Q5455245"]} |
Cognitive and affective symptoms of cerebellum damage
Cerebellar cognitive affective syndrome
Other namesSchmahmann's syndrome
SpecialtyNeurology
Cerebellar cognitive affective syndrome (CCAS), also called Schmahmann's syndrome[1] is a condition that follows from lesions (damage) to the cerebellum of th... | Cerebellar cognitive affective syndrome | c2609040 | 7,186 | wikipedia | https://en.wikipedia.org/wiki/Cerebellar_cognitive_affective_syndrome | 2021-01-18T18:56:57 | {"wikidata": ["Q2031371"]} |
Congenital stenosis of vena cava
Superior and inferior vena cava(on left)
SpecialtyMedical genetics
Congenital stenosis of vena cava is a congenital anomaly in which the superior vena cava or inferior vena cava has an aberrant interruption or coarctation.
In some cases, it can be asymptomatic,[1] and in oth... | Congenital stenosis of vena cava | c0265927 | 7,187 | wikipedia | https://en.wikipedia.org/wiki/Congenital_stenosis_of_vena_cava | 2021-01-18T18:30:17 | {"icd-9": ["747.49"], "icd-10": ["Q26.0"], "wikidata": ["Q5160451"]} |
A number sign (#) is used with this entry because of evidence that congenital myasthenic syndrome-4C (CMS4C) associated with acetylcholine receptor (AChR) deficiency is caused by homozygous or compound heterozygous mutation in the CHRNE gene (100725) on chromosome 17p13.
Mutation in the CHRNE gene can also cause... | MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | c0751882 | 7,188 | omim | https://www.omim.org/entry/608931 | 2019-09-22T16:06:54 | {"doid": ["0110679"], "mesh": ["D020294"], "omim": ["608931"], "orphanet": ["98913", "590"], "synonyms": ["MYASTHENIA, FAMILIAL INFANTILE, 1, FORMERLY", "CMS Id, FORMERLY", "Alternative titles", "MYASTHENIC SYNDROME, CONGENITAL, TYPE Id"], "genereviews": ["NBK1168"]} |
Quadrantanopia
Other namesQuadrant anopia
Right homonymous superior quadrantanopia. The areas of the field lost in each eye are shown as black areas. This visual field defect is characteristic of damage to Meyer's loop on the left side of the brain.
SpecialtyOphthalmology
Quadrantanopia, quadrantanopsia, r... | Quadrantanopia | c0544680 | 7,189 | wikipedia | https://en.wikipedia.org/wiki/Quadrantanopia | 2021-01-18T18:45:08 | {"mesh": ["D006423"], "icd-9": ["368.46"], "icd-10": ["H53.4"], "wikidata": ["Q2121869"]} |
Body function in humans
Vaginal flatulence is an emission or expulsion of air from the vagina. It may occur during or after sexual intercourse or during other sexual acts, stretching or exercise. The sound is somewhat comparable to flatulence from the anus, but does not involve waste gases, and thus often does n... | Vaginal flatulence | c1535974 | 7,190 | wikipedia | https://en.wikipedia.org/wiki/Vaginal_flatulence | 2021-01-18T19:05:31 | {"wikidata": ["Q558165"]} |
Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties.
Par... | Perry syndrome | c1868594 | 7,191 | medlineplus | https://medlineplus.gov/genetics/condition/perry-syndrome/ | 2021-01-27T08:24:55 | {"gard": ["10453"], "mesh": ["C566822"], "omim": ["168605"], "synonyms": []} |
Isolated congenital megalocornea affects the cornea, the part of the eye that lets in light. The symptoms of isolated congenital megalocornea include mild nearsightedness, light sensitivity, and/or unusual vibration of the iris. At birth, the corneas are thin and enlarged. Cataracts may develop by 30-50 years of age.... | Isolated congenital megalocornea | c0344530 | 7,192 | gard | https://rarediseases.info.nih.gov/diseases/12648/isolated-congenital-megalocornea | 2021-01-18T17:59:42 | {"mesh": ["C562829"], "omim": ["309300"], "orphanet": ["91489"], "synonyms": ["Megalocornea", "MGCN", "MGC1", "Congenital anterior megalophthalmia"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to the development of acquired partial lipodystrophy (APLD) can be conferred in some cases by heterozygous mutation in the gene encoding the nuclear lamina protein lamin B2 (LMNB2; 150341) on chromosome 19p13.
Description
Acquired par... | LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO | c0220989 | 7,193 | omim | https://www.omim.org/entry/608709 | 2019-09-22T16:07:21 | {"mesh": ["C562448"], "omim": ["608709"], "orphanet": ["79087"], "synonyms": ["Alternative titles", "APLD, SUSCEPTIBILITY TO", "BARRAQUER-SIMONS SYNDROME", "LIPODYSTROPHY, CEPHALOTHORACIC TYPE", "LIPODYSTROPHY, PARTIAL, PROGRESSIVE"]} |
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects.
## Epidem... | Autosomal dominant optic atrophy, classic form | c0338508 | 7,194 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98673 | 2021-01-23T18:29:52 | {"gard": ["9890"], "mesh": ["D029241"], "omim": ["165500", "605293", "610708"], "icd-10": ["H47.2"], "synonyms": ["Autosomal dominant optic atrophy, Kjer type", "Kjer optic atrophy", "Optic atrophy type 1"]} |
Glomangiosarcoma
SpecialtyDermatology
Glomangiosarcoma is a low grade[1] tumor of the soft tissue. They rarely metastasize,[2] but metastases are possible.[3] It is also known as "malignant glomus tumor".[4] Positive staining for vimentin has been reported.[5]
## See also[edit]
* angiosarcoma
* Glomus tu... | Glomangiosarcoma | c1266111 | 7,195 | wikipedia | https://en.wikipedia.org/wiki/Glomangiosarcoma | 2021-01-18T18:31:47 | {"umls": ["C1266111"], "wikidata": ["Q5571213"]} |
medical condition in dogs
Ununited anconeal process
Elbow dysplasia is a condition involving multiple developmental abnormalities of the elbow-joint in the dog, specifically the growth of cartilage or the structures surrounding it. These abnormalities, known as 'primary lesions', give rise to osteoarthritic pro... | Elbow dysplasia | c3665589 | 7,196 | wikipedia | https://en.wikipedia.org/wiki/Elbow_dysplasia | 2021-01-18T18:52:00 | {"wikidata": ["Q678183"]} |
A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly ... | Double-orifice mitral valve | c0344770 | 7,197 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95474 | 2021-01-23T17:53:56 | {"umls": ["C0344770"], "icd-10": ["Q23.8"]} |
Liver damage caused by a drug or chemical
Hepatotoxicity
Other namesToxic liver disease, toxin-induced liver disease, drug-induced liver disease, drug-induced liver damage, drug-induced liver injury, hepatogenous poisoning
Drug-induced hepatitis with granulomata. Other causes were excluded with extensive investi... | Hepatotoxicity | c1262760 | 7,198 | wikipedia | https://en.wikipedia.org/wiki/Hepatotoxicity | 2021-01-18T18:46:18 | {"mesh": ["D056486"], "wikidata": ["Q1349821"]} |
Diogenes syndrome
Other namesSenile squalor syndrome
Room crammed with garbage
SpecialtyPsychology, psychiatry
Diogenes syndrome, also known as senile squalor syndrome, is a disorder characterized by extreme self-neglect, domestic squalor, social withdrawal, apathy, compulsive hoarding of garbage or animal... | Diogenes syndrome | c0424291 | 7,199 | wikipedia | https://en.wikipedia.org/wiki/Diogenes_syndrome | 2021-01-18T19:08:14 | {"umls": ["C0424291"], "wikidata": ["Q1226826"]} |
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