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A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.
## Epidemiology
At least 51 cases have been reported in the last decades; prevalence and incidence val... | Aminopterin/methotrexate embryofetopathy | c0432367 | 30,300 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1908 | 2021-01-23T18:32:01 | {"gard": ["2294"], "umls": ["C0432367"], "icd-10": ["Q86.8"], "synonyms": ["Aminopterin embryopathy syndrome", "Fetal aminopterin syndrome"]} |
Ulnar tunnel syndrome
Other namesGuyon's canal syndrome
Cartoon depiction of classic ulnar sensory distribution, including mid-4th and 5th fingers. Note that this diagram does not portray hand muscles affected by ulnar neuropathy.
SpecialtyOrthopedic surgery
Ulnar tunnel syndrome, also known as Guyon's can... | Ulnar tunnel syndrome | c1142146 | 30,301 | wikipedia | https://en.wikipedia.org/wiki/Ulnar_tunnel_syndrome | 2021-01-18T18:31:06 | {"wikidata": ["Q786262"]} |
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and... | Bencze syndrome | c1841640 | 30,302 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1241 | 2021-01-23T19:05:18 | {"gard": ["2633"], "mesh": ["C564199"], "omim": ["141350"], "umls": ["C1841640"], "icd-10": ["Q67.4"], "synonyms": ["Hemifacial hyperplasia-strabismus syndrome"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-47 (IMD47) is caused by hemizygous mutation in the ATP6AP1 gene (300197) on chromosome Xq28.
Description
Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections,... | IMMUNODEFICIENCY 47 | c4310819 | 30,303 | omim | https://www.omim.org/entry/300972 | 2019-09-22T16:19:03 | {"omim": ["300972"], "synonyms": ["Alternative titles", "IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES"]} |
Astroblastoma
Micrograph of an astroblastoma showing the characteristic nuclear pervivascular pseudorosette. H&E stain.
SpecialtyOncology
Astroblastoma is a rare glial tumor derived from the astroblast, a type of cell that closely resembles spongioblastoma and astrocytes.[1] Astroblastoma cells are most like... | Astroblastoma | c0334587 | 30,304 | wikipedia | https://en.wikipedia.org/wiki/Astroblastoma | 2021-01-18T19:04:52 | {"gard": ["10635"], "mesh": ["D018302"], "umls": ["C0334587"], "icd-9": ["191.9"], "icd-10": ["C71.9"], "orphanet": ["251679"], "wikidata": ["Q4811532"]} |
Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooti... | Hereditary sensory neuropathy type 1 | c0020071 | 30,305 | gard | https://rarediseases.info.nih.gov/diseases/6635/hereditary-sensory-neuropathy-type-1 | 2021-01-18T18:00:01 | {"mesh": ["D009477"], "umls": ["C0020071"], "orphanet": ["36386"], "synonyms": ["HSAN 1", "Neuropathy hereditary sensory radicular, autosomal dominant", "Neuropathy hereditary sensory and autonomic type 1", "HSN1", "Hereditary sensory and autonomic neuropathy type 1"]} |
A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-1 (LCCS1) is caused by homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 (603371) on chromosome 9q34.
Biallelic mutation in the GLE1 gene can also cause congenital arthrogryposis with... | LETHAL CONGENITAL CONTRACTURE SYNDROME 1 | c1854664 | 30,306 | omim | https://www.omim.org/entry/253310 | 2019-09-22T16:24:51 | {"doid": ["0060559"], "mesh": ["C537194"], "omim": ["253310"], "orphanet": ["1486"], "synonyms": ["Alternative titles", "LCCS", "MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE"]} |
A number sign (#) is used with this entry because of evidence that axonal Charcot-Marie-Tooth disease type 2X (CMT2X) is caused by homozygous or compound heterozygous mutation in the SPG11 gene (610844) on chromosome 15q21.
Biallelic mutations in the SPG11 gene can also cause autosomal recessive spastic paraplegia-1... | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X | c4225253 | 30,307 | omim | https://www.omim.org/entry/616668 | 2019-09-22T15:48:17 | {"doid": ["0110176"], "omim": ["616668"], "orphanet": ["466775"], "synonyms": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X", "Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation", "CMT2X", "ARCMT2X", "Alternative titles", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X"]} |
Variegate porphyria (VP) is an inherited disorder that is caused by mutations in the PPOX gene that lead to the build-up of compounds normally involved in the body’s production of heme. Heme is an important part of hemoglobin, the protein in blood that carries oxygen throughout our bodies. It is used in all the body’... | Variegate porphyria | c0162532 | 30,308 | gard | https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria | 2021-01-18T17:57:12 | {"mesh": ["D046350"], "omim": ["176200"], "orphanet": ["79473"], "synonyms": ["Porphyria variegate", "VP", "Porphyria, South African type", "Protoporphyrinogen oxidase deficiency", "PPOX deficiency"]} |
SUNCT syndrome
SpecialtyNeurology
Frequency50 described cases (as of 2015)[1]
Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT syndrome), is a rare headache disorder that belongs to the group of headaches called trigeminal autonomic cephalalgia (TACs).[1] Symptoms... | SUNCT syndrome | c1262087 | 30,309 | wikipedia | https://en.wikipedia.org/wiki/SUNCT_syndrome | 2021-01-18T19:05:57 | {"gard": ["9257"], "mesh": ["D050798"], "umls": ["C1262087"], "orphanet": ["57145"], "wikidata": ["Q7501612"]} |
A number sign (#) is used with this entry because a heterozygous mutation in the FOXD3 gene (611539) on chromosome 1p31 has been identified in a family with vitiligo mapping to the AIS1 locus.
For a discussion of autoimmunity, see 109100. See also vitiligo (606579).
Clinical Features
Alkhateeb et al. (2002) st... | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 | c1842979 | 30,310 | omim | https://www.omim.org/entry/607836 | 2019-09-22T16:08:43 | {"omim": ["607836"], "synonyms": ["Alternative titles", "VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2", "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED"]} |
A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.
## Epidemiology
The prevalence is unknown; however, from a European registry the familial form is repo... | Familial isolated restrictive cardiomyopathy | c1861861 | 30,311 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75249 | 2021-01-23T18:48:48 | {"mesh": ["C566168"], "omim": ["115210", "609578", "612422", "615248", "617047"], "icd-10": ["I42.5"], "synonyms": ["Familial or idiopathic restrictive cardiomyopathy"]} |
## Clinical Features
Shohat et al. (1993) described a preterm (28 weeks) female fetus with a 'new' lethal skeletal dysplasia characterized by distinctive epiphyseal stippling, periosteal cloaking, and unusual microscopic morphology. Radiologically there was marked stippling of the coccygeal and sacral vertebral reg... | PACMAN DYSPLASIA | c1833676 | 30,312 | omim | https://www.omim.org/entry/167220 | 2019-09-22T16:36:47 | {"mesh": ["C538095"], "omim": ["167220"], "orphanet": ["1952"], "synonyms": ["Alternative titles", "EPIPHYSEAL STIPPLING WITH OSTEOCLASTIC HYPERPLASIA"]} |
## Clinical Features
Carter and Sweetnam (1960) noted dominant inheritance in several families that suffered from recurrent dislocation of joints, particularly the shoulder, caused by joint laxity. Other dominant pedigrees were referred to by McKusick (1972). Horton et al. (1980) reported a large family in which ma... | JOINT LAXITY, FAMILIAL | c0268349 | 30,313 | omim | https://www.omim.org/entry/147900 | 2019-09-22T16:39:21 | {"mesh": ["C535884"], "omim": ["147900"], "orphanet": ["2295"], "synonyms": ["Alternative titles", "FAMILIAL JOINT INSTABILITY SYNDROME", "ARTICULAR HYPERMOBILITY SYNDROME", "EHLERS-DANLOS SYNDROME, TYPE XI, FORMERLY", "EDS XI, FORMERLY", "EDS11, FORMERLY"]} |
A number sign (#) is used with this entry because Senior-Loken syndrome 7 (SLSN7), a ciliopathy, is caused by homozygous mutation in the SDCCAG8 gene (613524) on chromosome 1q43.
Mutations in SDCCAG8 can also result in Bardet-Biedl syndrome-16 (BBS16; 615993).
For a phenotypic description and a discussion of geneti... | SENIOR-LOKEN SYNDROME 7 | c0403553 | 30,314 | omim | https://www.omim.org/entry/613615 | 2019-09-22T15:58:06 | {"doid": ["0050576"], "mesh": ["C537580"], "omim": ["613615"], "orphanet": ["3156"]} |
Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia ... | Autosomal recessive spastic paraplegia type 28 | c1836295 | 30,315 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101008 | 2021-01-23T17:01:57 | {"mesh": ["C563732"], "omim": ["609340"], "umls": ["C1836295"], "icd-10": ["G11.4"], "synonyms": ["SPG28"]} |
The average age at which intestinal tumors are diagnosed ranges between 10–12 years for cats and 6 to 9 years for dogs. There are many different types of intestinal tumors, including lymphoma, adenocarcinoma, mast cell tumor, and leiomyosarcoma.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
... | Intestinal cancer in cats and dogs | None | 30,316 | wikipedia | https://en.wikipedia.org/wiki/Intestinal_cancer_in_cats_and_dogs | 2021-01-18T18:34:30 | {"wikidata": ["Q6057463"]} |
A number sign (#) is used with this entry because Fanconi anemia of complementation group L (FANCL) is caused by homozygous or compound heterozygous mutation in the PHF9 (FANCL; 608111) gene on chromosome 2p16.
Description
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomi... | FANCONI ANEMIA, COMPLEMENTATION GROUP L | c0015625 | 30,317 | omim | https://www.omim.org/entry/614083 | 2019-09-22T15:56:31 | {"doid": ["0111082"], "mesh": ["D005199"], "omim": ["614083"], "orphanet": ["84"], "genereviews": ["NBK1401", "NBK5192"]} |
Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional ... | Keratoderma hereditarium mutilans | c0265964 | 30,318 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=494 | 2021-01-23T18:34:31 | {"gard": ["3092"], "mesh": ["C536457"], "omim": ["124500"], "umls": ["C0265964"], "icd-10": ["Q82.8"], "synonyms": ["Mutilating keratoderma of Vohwinkel", "Mutilating keratoderma plus deafness", "Mutilating keratoderma plus hearing loss", "PPK mutilans and deafness", "PPK mutilans and hearing loss", "Vohwinkel syndrome... |
Idiopathic postprandial syndrome
SymptomsShakiness, sense of weakness
Idiopathic postprandial syndrome, colloquially but incorrectly known by some as hypoglycemia, describes a collection of clinical signs and symptoms similar to medical hypoglycemia but without the demonstrably low blood glucose levels which c... | Idiopathic postprandial syndrome | c0271709 | 30,319 | wikipedia | https://en.wikipedia.org/wiki/Idiopathic_postprandial_syndrome | 2021-01-18T18:29:50 | {"umls": ["C0271709"], "wikidata": ["Q5988900"]} |
Fully female spider (Drassodes saccatus) with left male pedipalp, an example of mosaic gynandromorphism
Heteropteryx dilatata gynandromorph
Gynandromorph of the small white, Pieris rapae
A gynandromorph is an organism that contains both male and female characteristics. The term comes from the Greek γυνή (gynē), fe... | Gynandromorphism | None | 30,320 | wikipedia | https://en.wikipedia.org/wiki/Gynandromorphism | 2021-01-18T18:43:44 | {"wikidata": ["Q430711"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (November 2019)
Autoimmune skin disease in dogs are a group of diseases that occur in dogs that are caused by the body's immune system, where the body's w... | Autoimmune skin diseases in dogs | None | 30,321 | wikipedia | https://en.wikipedia.org/wiki/Autoimmune_skin_diseases_in_dogs | 2021-01-18T19:06:26 | {"wikidata": ["Q85744316"]} |
Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen. Other symptoms of hemolytic anemia ma... | Hereditary spherocytosis | c0221409 | 30,322 | gard | https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis | 2021-01-18T18:00:01 | {"mesh": ["C536356"], "omim": ["182900"], "orphanet": ["822"], "synonyms": ["Congenital spherocytic hemolytic anemia", "Congenital spherocytosis", "Spherocytic anemia"]} |
A number sign (#) is used with this entry because nephrotic syndrome type 7 (NPHS7) and susceptibility to atypical hemolytic uremic syndrome-7 (AHUS7) are caused by homozygous or compound heterozygous mutation in the DGKE gene (601440) on chromosome 17q22.
Description
Nephrotic syndrome type 7 is an autosomal reces... | NEPHROTIC SYNDROME, TYPE 7 | c0268742 | 30,323 | omim | https://www.omim.org/entry/615008 | 2019-09-22T15:53:28 | {"doid": ["0080388"], "mesh": ["D015432"], "omim": ["615008"], "orphanet": ["357008", "329903", "54370", "2134", "544472"], "synonyms": ["D-HUS with DGKE deficiency", "NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS", "aHUS with DGKE deficiency", "Alternative titles", "Atypical HUS with DGKE d... |
Purging disorder is an eating disorder characterized by the DSM-5 as self-induced vomiting, misuse of laxatives, diuretics, or enemas to forcefully evacuate matter from the body.[1] Purging disorder differs from bulimia nervosa (BN) because individuals with purging disorder are not underweight and do not consume a la... | Purging disorder | None | 30,324 | wikipedia | https://en.wikipedia.org/wiki/Purging_disorder | 2021-01-18T19:04:55 | {"wikidata": ["Q7261223"]} |
A number sign (#) is used with this entry because Niemann-Pick disease type C2 (NPC2) is caused by homozygous mutation in the NPC2 gene (601015) on chromosome 14q24.
Description
Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approxi... | NIEMANN-PICK DISEASE, TYPE C2 | c0220756 | 30,325 | omim | https://www.omim.org/entry/607625 | 2019-09-22T16:08:58 | {"doid": ["0070114"], "mesh": ["D052556"], "omim": ["607625"], "orphanet": ["646"], "genereviews": ["NBK1296"]} |
A number sign (#) is used with this entry because ataxia-telangiectasia (AT) is caused by homozygous or compound heterozygous mutation in the ATM gene (607585) on chromosome 11q22.
Description
Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune de... | ATAXIA-TELANGIECTASIA | c0004135 | 30,326 | omim | https://www.omim.org/entry/208900 | 2019-09-22T16:30:39 | {"doid": ["12704"], "mesh": ["D001260"], "omim": ["208900"], "orphanet": ["100"], "synonyms": ["Alternative titles", "AT1", "LOUIS-BAR SYNDROME"], "genereviews": ["NBK26468"]} |
A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequent... | Lymphoplasmacytic inflammatory pseudotumor of the liver | None | 30,327 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=555437 | 2021-01-23T18:09:51 | {"icd-10": ["K76.8"], "synonyms": ["IgG4-related inflammatory pseudotumor of the liver"]} |
A rare chronic, local immune-mediated disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including, dysphagia, feeding disorders, food impaction, vomiting and abdominal pain) and histologically by eosinophil-predominant inflammation in esophageal biopsies.
## Epidemiology
Preva... | Eosinophilic esophagitis | c0341106 | 30,328 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73247 | 2021-01-23T18:47:20 | {"mesh": ["D057765"], "omim": ["610247", "613412"], "umls": ["C0341106"], "icd-10": ["K20"], "synonyms": ["EoE"]} |
A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic inv... | Farber disease | c0268255 | 30,329 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=333 | 2021-01-23T18:53:04 | {"gard": ["6426"], "mesh": ["D055577", "C537075"], "omim": ["228000"], "umls": ["C0268255", "C2936785"], "icd-10": ["E75.2"], "synonyms": ["Acid ceramidase deficiency", "Farber lipogranulomatosis"]} |
Brain ischemia
Other namesCerebral ischemia, Cerebrovascular ischemia
CT scan slice of the brain showing a right-hemispheric cerebral infarct (left side of image).
SpecialtyVascular surgeon
Brain ischemia is a condition in which there is insufficient blood flow to the brain to meet metabolic demand.[1] Thi... | Brain ischemia | c0917798 | 30,330 | wikipedia | https://en.wikipedia.org/wiki/Brain_ischemia | 2021-01-18T18:28:29 | {"mesh": ["D002545"], "umls": ["C0917798"], "icd-9": ["435X", "437X"], "icd-10": ["G45.9"], "wikidata": ["Q4862390"]} |
Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.
## Epi... | Ménétrier disease | c0017155 | 30,331 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2494 | 2021-01-23T18:39:07 | {"gard": ["2436"], "mesh": ["D005758"], "omim": ["137280"], "umls": ["C0017155", "C2936660"], "icd-10": ["K29.6"], "synonyms": ["Giant hypertrophic gastritis", "Hypoproteinemic hypertrophic gastropathy"]} |
## Clinical Features
Jones et al. (1977) described a family with gingival fibromatosis (see 135300) associated with progressive sensorineural hearing loss in 5 generations. Whereas 9 persons had GF without demonstrated or reported deafness, all 16 persons with a hearing loss had GF. The proband with the full syndro... | FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS | c1851112 | 30,332 | omim | https://www.omim.org/entry/135550 | 2019-09-22T16:41:13 | {"mesh": ["C535886"], "omim": ["135550"], "orphanet": ["2027"], "synonyms": ["Alternative titles", "GINGIVAL FIBROMATOSIS WITH SENSORINEURAL HEARING LOSS", "JONES SYNDROME"]} |
Disease of silkworms
Flacherie (literally: "flaccidness") is a disease of silkworms, caused by silkworms eating infected or contaminated mulberry leaves. Flacherie infected silkworms look weak and can die from this disease. Silkworm larvae that are about to die from Flacherie are a dark brown.
There are two kinds o... | Flacherie | None | 30,333 | wikipedia | https://en.wikipedia.org/wiki/Flacherie | 2021-01-18T19:02:37 | {"wikidata": ["Q678421"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to late-onset Alzheimer disease-9 (AD9) is conferred by heterozygous variation in the ABCA7 gene (605414) on chromosome 19p13.
For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 10... | ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO | c4282179 | 30,334 | omim | https://www.omim.org/entry/608907 | 2019-09-22T16:06:57 | {"omim": ["608907"], "synonyms": ["Alternative titles", "ALZHEIMER DISEASE 9, LATE-ONSET"]} |
Focal task-specific dystonia (FTSD) is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. FTSD interferes with the performance of particular tasks, ... | Focal task-specific dystonia | c1969807 | 30,335 | gard | https://rarediseases.info.nih.gov/diseases/6458/focal-task-specific-dystonia | 2021-01-18T18:00:26 | {"mesh": ["C566973"], "omim": ["611284"], "orphanet": ["1866"], "synonyms": ["FTSD", "Focal task specific dystonia", "Task-specific focal dystonia", "Focal dystonia", "Focal, segmental or multifocal dystonia", "Task-specific dystonia"]} |
Longitudinal erythronychia presents with longitudinal red bands in the nail plate that commence in the matrix and extend to the point of separation of the nail plate and nailbed, and may occur on multiple nails with inflammatory conditions such as lichen planus or Darier's disease.[1]:790
## See also[edit]
* Nail... | Longitudinal erythronychia | None | 30,336 | wikipedia | https://en.wikipedia.org/wiki/Longitudinal_erythronychia | 2021-01-18T18:48:33 | {"wikidata": ["Q6674008"]} |
Postoperative residual curarization
Electromyographic monitoring at the adductor policies muscle.
SpecialtyAnesthesia
Postoperative residual curarization (PORC) or residual neuromuscular blockade (RNMB) is a residual paresis after emergence from general anesthesia that may occur with the use of neuromusc... | Postoperative residual curarization | c4042763 | 30,337 | wikipedia | https://en.wikipedia.org/wiki/Postoperative_residual_curarization | 2021-01-18T18:44:40 | {"mesh": ["D055191"], "wikidata": ["Q1981337"]} |
Seborrheic-like psoriasis
Other namesSebopsoriasis,[1] and Seborrhiasis
SpecialtyDermatology
Seborrheic-like psoriasis is a skin condition characterized by psoriasis with an overlapping seborrheic dermatitis.[2]:193
## See also[edit]
* Psoriasis
* Skin lesion
* List of cutaneous conditions
## Re... | Seborrheic-like psoriasis | None | 30,338 | wikipedia | https://en.wikipedia.org/wiki/Seborrheic-like_psoriasis | 2021-01-18T18:55:51 | {"wikidata": ["Q7442801"]} |
Abortion in Burkina Faso is only legal if the abortion will save the woman's life, the pregnancy gravely endangers the woman's physical or mental health, the child will potentially be born with an incurable disease, or in cases where the pregnancy is a result of rape or incest, so long as it is proven by a state ... | Abortion in Burkina Faso | None | 30,339 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Burkina_Faso | 2021-01-18T18:55:54 | {"wikidata": ["Q19568853"]} |
Deafness onychodystrophy osteodystrophy and mental retardation (DOOR) syndrome is a rare genetic disorder that is usually recognized shortly after birth. The term DOOR is an acronym with each letter representing a common feature in affected individuals: (D)eafness due to a defect of the inner ear or auditory nerv... | DOOR syndrome | c0795927 | 30,340 | gard | https://rarediseases.info.nih.gov/diseases/1685/door-syndrome | 2021-01-18T18:00:50 | {"mesh": ["C538204"], "omim": ["220500"], "umls": ["C1857345"], "orphanet": ["79500"], "synonyms": ["Digitorenocerebral syndrome", "Autosomal recessive deafness-onychodystrophy syndrome", "Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome", "Deafness-onychoosteodystrophy-intellectual disability s... |
Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and galls... | Congenital dyserythropoietic anemia type 2 | c1306589 | 30,341 | gard | https://rarediseases.info.nih.gov/diseases/2001/congenital-dyserythropoietic-anemia-type-2 | 2021-01-18T18:01:10 | {"mesh": ["D000742"], "omim": ["224100"], "umls": ["C1306589"], "orphanet": ["98873"], "synonyms": ["CDAN2", "Anemia, dyserythropoietic, congenital type 2", "CDA II", "Dyserythropoietic anemia, HEMPAS type", "HEMPAS anemia", "Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test", "CDA type II", ... |
A number sign (#) is used with this entry because a skeletal malformation with features overlapping those of brachydactyly types D and E (BDE; 113300) can be caused by mutation in the HOXD13 gene (142989).
Clinical Features
This type of brachydactyly is characterized by short and broad terminal phalanges of the thu... | BRACHYDACTYLY, TYPE D | c0220664 | 30,342 | omim | https://www.omim.org/entry/113200 | 2019-09-22T16:44:08 | {"mesh": ["C562420"], "omim": ["113200"], "synonyms": ["Alternative titles", "STUB THUMB"]} |
Skin manifestations of sarcoidosis
SpecialtyHematology
Sarcoidosis, an inflammatory disease, involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually r... | Skin manifestations of sarcoidosis | c0036203 | 30,343 | wikipedia | https://en.wikipedia.org/wiki/Skin_manifestations_of_sarcoidosis | 2021-01-18T18:54:30 | {"umls": ["C0036203"], "wikidata": ["Q4769722"]} |
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: "Fracture blister" – news · newspapers · books · scholar · JSTOR (April 2013) (Learn how and when to remove this tem... | Fracture blister | c0559878 | 30,344 | wikipedia | https://en.wikipedia.org/wiki/Fracture_blister | 2021-01-18T18:45:22 | {"umls": ["C0559878"], "wikidata": ["Q5477585"]} |
Lichen myxedematosus
SpecialtyDermatology
Lichen myxedematosus is a group of cutaneous disorders considered mucinoses.[1][2]:183 Conditions included in this group are:[2]:183
* Generalized lichen myxedematosus
* Localized lichen myxedematosus
* Discrete papular lichen myxedematosus
* ... | Lichen myxedematosus | c0263390 | 30,345 | wikipedia | https://en.wikipedia.org/wiki/Lichen_myxedematosus | 2021-01-18T18:43:06 | {"mesh": ["D053718"], "umls": ["C0263390"], "icd-10": ["L98.5"], "orphanet": ["402007"], "wikidata": ["Q6543199"]} |
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
## Epidemiology
It has been reported in 6 patients to date.
## Clinical description
Facial dysmo... | 19p13.12 microdeletion syndrome | c4304579 | 30,346 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254346 | 2021-01-23T19:10:07 | {"gard": ["10991"], "icd-10": ["Q93.5"], "synonyms": ["Del(19)(p13.12)", "Monosomy 19p13.12"]} |
Nathan et al. (1994) identified a membrane form of L-glutamate decarboxylase and purified it to apparent homogeneity from hog brain. The purified GAD was established as an integral membrane protein by phase-partitioning assay, charge-shift electrophoresis, and chromatography on a hydrophobic interaction column. This ... | GLUTAMIC ACID DECARBOXYLASE, BRAIN, MEMBRANE FORM | c1841911 | 30,347 | omim | https://www.omim.org/entry/138277 | 2019-09-22T16:40:39 | {"omim": ["138277"]} |
Microspherophakia
Schematic diagram of the human eye(normal)
SpecialtyOphthalmology
Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped. This condition may be associated with a number of disorders including Peter's anoma... | Microspherophakia | c3538951 | 30,348 | wikipedia | https://en.wikipedia.org/wiki/Microspherophakia | 2021-01-18T18:58:44 | {"umls": ["C3538951"], "icd-9": ["743.36"], "icd-10": ["Q12.8", "Q12.4"], "orphanet": ["238763"], "wikidata": ["Q3857010"]} |
Lucey-Driscoll syndrome, also known as transient familial hyperbilirubinemia, is a rare condition that leads to very high levels of bilirubin in a newborn's blood. Bilirubin comes from the breakdown of red blood cells and is handled by the liver. Babies with this condition may be born with jaundice, causing yello... | Lucey-Driscoll syndrome | c0270210 | 30,349 | gard | https://rarediseases.info.nih.gov/diseases/3304/lucey-driscoll-syndrome | 2021-01-18T17:59:18 | {"mesh": ["C562692"], "omim": ["237900"], "umls": ["C0270210"], "orphanet": ["2312"], "synonyms": ["Transient familial neonatal hyperbilirubinemia", "Transient familial hyperbilirubinemia"]} |
Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema... | Complex regional pain syndrome type 2 | c0007462 | 30,350 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99994 | 2021-01-23T18:43:40 | {"mesh": ["D002422"], "umls": ["C0007462"], "icd-10": ["G56.4"], "synonyms": ["Causalgia"]} |
Viral infection of the skin
Molluscum contagiosum
Other namesWater warts
Typical flesh-colored, dome-shaped and pearly lesions
SpecialtyDermatology
SymptomsSmall, raised, pink lesions with a dimple in the center[1]
Usual onsetChildren 1 to 10 years of age[2]
DurationUsually 6-12 months, may last up to fo... | Molluscum contagiosum | c0026393 | 30,351 | wikipedia | https://en.wikipedia.org/wiki/Molluscum_contagiosum | 2021-01-18T19:07:09 | {"mesh": ["D008976"], "umls": ["C0026393"], "wikidata": ["Q659584"]} |
A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot.
## Epidemiology
Fibular hemimelia incidence is reported to be between 1/50,000 and 1/135,000 births. ... | Fibular hemimelia | None | 30,352 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93323 | 2021-01-23T18:20:48 | {"icd-10": ["Q72.6"], "synonyms": ["Congenital longitudinal deficiency of the fibula", "Fibular longitudinal meromelia"]} |
A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and eso... | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity | c3553270 | 30,353 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314373 | 2021-01-23T17:51:27 | {"omim": ["614616"], "icd-10": ["P78.3"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (November 2013)
This article needs attention from an expert in Medicine. Please add a reason or a talk parameter to this template to explain the issue wit... | Peripheral vasculopathy | None | 30,354 | wikipedia | https://en.wikipedia.org/wiki/Peripheral_vasculopathy | 2021-01-18T18:49:37 | {"wikidata": ["Q16919543"]} |
A number sign (#) is used with this entry because Verheij syndrome (VRJS) can be caused by heterozygous mutation in the PUF60 gene (604819) on chromosome 8q24.3. The same VRJS phenotype results from a contiguous gene deletion involving the PUF60 and SCRIB (607733) genes on 8q24.3.
Description
Verheij syndrome i... | VERHEIJ SYNDROME | c3810023 | 30,355 | omim | https://www.omim.org/entry/615583 | 2019-09-22T15:51:35 | {"omim": ["615583"], "orphanet": ["508488", "508498"], "synonyms": ["Alternative titles", "Monosomy 8q24.3", "CHROMOSOME 8q24.3 DELETION SYNDROME", "Deletion 8q24.3", "Verheij syndrome", "Del(8)(q24.3)"]} |
A number sign (#) is used with this entry because of evidence that Fanconi anemia complementation group W (FANCW) is caused by compound heterozygous mutation in the RFWD3 gene (614151) on chromosome 16q23. One such patient has been reported.
For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (227... | FANCONI ANEMIA, COMPLEMENTATION GROUP W | c4521564 | 30,356 | omim | https://www.omim.org/entry/617784 | 2019-09-22T15:44:45 | {"omim": ["617784"], "genereviews": ["NBK1401"]} |
A number sign (#) is used with this entry because of evidence that Griscelli syndrome with primary neurologic impairment and without immunologic impairment, referred to as type 1, is caused by homozygous mutation in the gene encoding myosin VA (MYO5A; 160777) on chromosome 15q21.
Description
Griscelli syndrome type... | GRISCELLI SYNDROME, TYPE 1 | c1859194 | 30,357 | omim | https://www.omim.org/entry/214450 | 2019-09-22T16:29:47 | {"doid": ["0060832"], "mesh": ["C537301"], "omim": ["214450"], "orphanet": ["79476", "381"], "synonyms": ["Alternative titles", "GRISCELLI SYNDROME WITH NEUROLOGIC IMPAIRMENT", "PARTIAL ALBINISM AND PRIMARY NEUROLOGIC DISEASE WITHOUT HEMOPHAGOCYTIC SYNDROME", "GRISCELLI SYNDROME, CUTANEOUS AND NEUROLOGIC TYPE"]} |
A number sign (#) is used with this entry because of evidence that atrioventricular septal defect-5 (AVSD5) is caused by heterozygous mutation in the GATA6 gene (601656) on chromosome 18q11.
Description
The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterize... | ATRIOVENTRICULAR SEPTAL DEFECT 5 | c1389018 | 30,358 | omim | https://www.omim.org/entry/614474 | 2019-09-22T15:55:08 | {"doid": ["0050651"], "mesh": ["C562831"], "omim": ["614474"], "orphanet": ["98722"]} |
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and... | Spinocerebellar ataxia type 2 | c0752121 | 30,359 | medlineplus | https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-2/ | 2021-01-27T08:24:38 | {"gard": ["4072"], "mesh": ["D020754"], "omim": ["183090"], "synonyms": []} |
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This article may require cleanup to meet Wikipedia's quality standards. The specific problem is: article is messy and out-of-date. Relational disorder is not inclu... | Relational disorder | c0425168 | 30,360 | wikipedia | https://en.wikipedia.org/wiki/Relational_disorder | 2021-01-18T18:42:41 | {"umls": ["C0425168"], "wikidata": ["Q7310715"]} |
X-linked ichthyosis
Other namesSteroid sulfatase deficiency, X-linked recessive ichthyosis[1]
X-linked recessive inheritance: Affected boys may inherit a deletion or mutation of the STS gene from their mothers
SpecialtyMedical genetics
X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the... | X-linked ichthyosis | c0079588 | 30,361 | wikipedia | https://en.wikipedia.org/wiki/X-linked_ichthyosis | 2021-01-18T18:49:01 | {"gard": ["7904"], "mesh": ["D016114"], "umls": ["C0079588"], "icd-9": ["757.1"], "orphanet": ["461"], "wikidata": ["Q3804555"]} |
Gastrinoma
Micrograph of a neuroendocrine tumour of the stomach. H&E stain.
SpecialtyGeneral surgery
Gastrinomas are neuroendocrine tumors (NETs), usually located in the duodenum or pancreas, that secrete gastrin and cause a clinical syndrome known as Zollinger-Ellison syndrome (ZES).[1] A large number o... | Gastrinoma | c0017150 | 30,362 | wikipedia | https://en.wikipedia.org/wiki/Gastrinoma | 2021-01-18T18:46:43 | {"mesh": ["D015408"], "umls": ["C0017150"], "icd-10": ["E16.4"], "wikidata": ["Q786852"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) is caused by homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q21.
Description
Autosomal recessive limb-girdle muscular dystro... | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | c2936332 | 30,363 | omim | https://www.omim.org/entry/608099 | 2019-09-22T16:08:15 | {"doid": ["0110278"], "mesh": ["D058088"], "omim": ["608099"], "orphanet": ["62"], "synonyms": ["Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D", "DUCHENNE-LIKE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, TYPE 2", "ADHALINOPATHY, PRIMARY"]} |
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.
People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads ... | Bart-Pumphrey syndrome | c0266004 | 30,364 | medlineplus | https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome/ | 2021-01-27T08:25:49 | {"gard": ["3125"], "mesh": ["C537210"], "omim": ["149200"], "synonyms": []} |
## Clinical Features
Halal et al. (1982) described a French Canadian kindred with these features in multiple persons in an autosomal dominant pedigree pattern. The proband, a 14-year-old girl, presented with bleeding antral ulcer; she had had pigmented spots over the back since age 2 years and wore spectacles for m... | GASTROCUTANEOUS SYNDROME | c1850899 | 30,365 | omim | https://www.omim.org/entry/137270 | 2019-09-22T16:40:47 | {"mesh": ["C535651"], "omim": ["137270"], "orphanet": ["2069"], "synonyms": ["Alternative titles", "PEPTIC ULCER/HIATAL HERNIA, MULTIPLE LENTIGINES/CAFE-AU-LAIT SPOTS, HYPERTELORISM, MYOPIA"]} |
A number sign (#) is used with this entry because Neu-Laxova syndrome-1 (NLS1) is caused by homozygous mutation in the PHGDH gene (606879) on chromosome 1p12.
See also PHGDH deficiency (601815), an allelic disorder with a less severe phenotype.
Description
Neu-Laxova syndrome is an autosomal recessive lethal multi... | NEU-LAXOVA SYNDROME 1 | c0265218 | 30,366 | omim | https://www.omim.org/entry/256520 | 2019-09-22T16:24:23 | {"doid": ["0080076"], "mesh": ["C536405"], "omim": ["256520"], "orphanet": ["2671"], "synonyms": ["Alternative titles", "NEU-LAXOVA SYNDROME"]} |
## Clinical Features
Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, whic... | OEIS COMPLEX | c1838703 | 30,367 | omim | https://www.omim.org/entry/258040 | 2019-09-22T16:24:08 | {"doid": ["0080175", "0080173"], "mesh": ["C564009"], "omim": ["258040"], "orphanet": ["322", "93929"], "synonyms": ["Alternative titles", "OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS"]} |
This article is about the schizophrenia symptom. For the mental disorders of self-awareness and personality in general, see personality disorder.
Self-disorder
Other namesIpseity disturbance
Pronunciation
* /ˌskɪtsəˈfriːniə, ˌskɪdz-, -oʊ-, -ˈfrɛniə/[1]
SpecialtyPsychiatry
A self-disorder, also cal... | Self-disorder | None | 30,368 | wikipedia | https://en.wikipedia.org/wiki/Self-disorder | 2021-01-18T18:33:28 | {"wikidata": ["Q25230657"]} |
Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.
## Epidemiology
Its exact prevalence is unknown. The disease was present in the Western world up until the start of the 20th century, but it now mainly affects children between 2 and 6 years of age living in... | Noma | c0028271 | 30,369 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2700 | 2021-01-23T18:56:22 | {"gard": ["4001"], "mesh": ["D009625"], "umls": ["C0028271"], "icd-10": ["A69.0"], "synonyms": ["Cancrum oris"]} |
## Summary
### Clinical characteristics.
EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal ... | EFEMP2-Related Cutis Laxa | None | 30,370 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK54467/ | 2021-01-18T21:29:41 | {"synonyms": ["Autosomal Recessive Cutis Laxa Type 1B (ARCL1B)"]} |
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: "CAMFAK syndrome" – news · newspapers · books · scholar · JSTOR (April 2010) (Learn how and when to remove this template... | CAMFAK syndrome | c1859312 | 30,371 | wikipedia | https://en.wikipedia.org/wiki/CAMFAK_syndrome | 2021-01-18T19:03:03 | {"mesh": ["C566861", "C537965"], "orphanet": ["1317"], "wikidata": ["Q5008650"]} |
## Clinical Features
Sellick et al. (2005) reported a large multigenerational family segregating symmetric cutaneous small vessel lymphocytic vasculitis affecting the cheeks, thighs, and hands. In all affected family members the disease presented in early infancy, and there was no evidence for an association wi... | VASCULITIS, LYMPHOCYTIC, CUTANEOUS SMALL VESSEL | c1853293 | 30,372 | omim | https://www.omim.org/entry/609817 | 2019-09-22T16:05:32 | {"mesh": ["C565222"], "omim": ["609817"]} |
For the disease affecting humans sometimes known as "mud fever", see Leptospirosis.
Dermatophilus congolensis, a causative agent of mud fever
Mud fever, also known as scratches or pastern dermatitis, is a group of diseases of horses causing irritation and dermatitis in the lower limbs of horses. Often caused by a m... | Mud fever | c0023364 | 30,373 | wikipedia | https://en.wikipedia.org/wiki/Mud_fever | 2021-01-18T18:53:57 | {"mesh": ["D007922"], "wikidata": ["Q1753695"]} |
A number sign (#) is used with this entry because a cardiac arrhythmia syndrome with variable manifestations can be caused by heterozygous mutation in the ankyrin-B gene (ANK2; 106410) on chromosome 4q25-q26.
Long QT syndrome-4 can also be caused by mutation in the ANK2 gene. For a general phenotypic description and... | CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED | c1141890 | 30,374 | omim | https://www.omim.org/entry/600919 | 2019-09-22T16:15:43 | {"omim": ["600919"], "orphanet": ["768", "101016"], "synonyms": ["Alternative titles", "ANKYRIN-B SYNDROME"], "genereviews": ["NBK1129"]} |
A number sign (#) is used with this entry because of evidence that vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the gene encoding the vitamin D receptor (VDR; 601769) on chromosome 12q.
Description
Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor ... | VITAMIN D-DEPENDENT RICKETS, TYPE 2A | c3536983 | 30,375 | omim | https://www.omim.org/entry/277440 | 2019-09-22T16:21:14 | {"doid": ["10609"], "mesh": ["D053098"], "omim": ["277440"], "orphanet": ["93160"], "synonyms": ["Alternative titles", "VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA", "RICKETS, HEREDITARY VITAMIN D-RESISTANT", "GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D", "VITAMIN D-RESISTANT RICKETS WITH END-O... |
A number sign (#) is used with this entry because mandibuloacral dysplasia with type B lipodystrophy can be caused by compound heterozygous mutation in the ZMPSTE24 gene (606480) on chromosome 1p34.
For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).
Cl... | MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY | c1837756 | 30,376 | omim | https://www.omim.org/entry/608612 | 2019-09-22T16:07:34 | {"mesh": ["C535706"], "omim": ["608612"], "orphanet": ["90154", "2457"], "synonyms": ["Alternative titles", "LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA"]} |
A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary loc... | Combined hamartoma of the retina and retinal pigment epithelium | c1862062 | 30,377 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=440727 | 2021-01-23T17:47:47 | {"synonyms": ["CHR-RPE", "Combined hamartoma of the retina and RPE"]} |
Rare type of breast cancer
Medullary carcinoma of the breast
SpecialtyOncology, pathology
Medullary breast carcinoma is a rare type of breast cancer[1] that often can be treated successfully. It is relatively circumscribed.[2]
It involves infiltration by lymphocyte[3] (a type of white blood cell) in and arou... | Medullary breast carcinoma | c0860580 | 30,378 | wikipedia | https://en.wikipedia.org/wiki/Medullary_breast_carcinoma | 2021-01-18T18:41:52 | {"umls": ["C0860580"], "wikidata": ["Q3658397"]} |
Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).
## Epidemiology
The exact prevalence of TTD is unknown, but it appears to be rather uncommon.
## Clinical description
W... | Trichothiodystrophy | c1955934 | 30,379 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33364 | 2021-01-23T17:22:33 | {"gard": ["12109"], "mesh": ["D054463", "C536559"], "omim": ["234050", "300953", "601675", "616390", "616395", "616943", "618546"], "umls": ["C0740342", "C1955934"], "icd-10": ["L67.8"]} |
A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging... | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | c1853205 | 30,380 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83639 | 2021-01-23T17:21:09 | {"gard": ["9965"], "mesh": ["C537277"], "omim": ["610293"], "umls": ["C1853205"], "icd-10": ["E88.8"], "synonyms": ["Congenital disorder of glycosylation due to PIGM deficiency", "PIGM-CDG"]} |
## Mapping
Marsh et al. (1994) used sib-pair analysis of 170 individuals from 11 Amish families to demonstrate linkage of 5 markers located on 5q31.1 with a gene controlling total serum IgE concentration. No linkage was found between these markers and specific IgE antibody concentrations. Analysis of total IgE with... | IMMUNOGLOBULIN E CONCENTRATION, SERUM | c1840252 | 30,381 | omim | https://www.omim.org/entry/147061 | 2019-09-22T16:39:33 | {"omim": ["147061"]} |
Spectrum of conditions caused by HIV infection
"AIDS" and "Aids" redirect here. For other uses, see AIDS (disambiguation).
HIV/AIDS
Other namesHIV disease, HIV infection[1][2]
The red ribbon is a symbol for solidarity with HIV-positive people and those living with AIDS.[3]
SpecialtyInfectious disease, immunol... | HIV/AIDS | c0001175 | 30,382 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS | 2021-01-18T18:50:15 | {"mesh": ["D000163"], "umls": ["C0001175"], "icd-9": ["044", "042", "043"], "icd-10": ["B2424."], "orphanet": ["310050", "319269"], "wikidata": ["Q12199"]} |
Caudal regression syndrome
Other namesSacral regression sequence, Sacral agenesis
Sacral agenesis
SpecialtyMedical genetics
Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine... | Caudal regression syndrome | c0344490 | 30,383 | wikipedia | https://en.wikipedia.org/wiki/Caudal_regression_syndrome | 2021-01-18T18:30:18 | {"gard": ["6007"], "mesh": ["C537221"], "umls": ["C0344490", "C0300948"], "icd-10": ["Q76.4"], "orphanet": ["3027"], "wikidata": ["Q1129947"]} |
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrom... | Stevens-Johnson syndrome/toxic epidermal necrolysis | c1840548 | 30,384 | medlineplus | https://medlineplus.gov/genetics/condition/stevens-johnson-syndrome-toxic-epidermal-necrolysis/ | 2021-01-27T08:24:50 | {"gard": ["7700"], "omim": ["608579"], "synonyms": []} |
A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a... | Navajo neurohepatopathy | c1850406 | 30,385 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=255229 | 2021-01-23T18:24:10 | {"gard": ["3972"], "mesh": ["C538344"], "omim": ["256810"], "umls": ["C1850406"], "synonyms": ["Navajo neuropathy"]} |
2018 attempted murder in Salisbury, England
Poisoning of Sergei and Yulia Skripal
A forensics tent covers the bench where Sergei and Yulia Skripal fell unconscious
LocationSalisbury, Wiltshire, United Kingdom
Date4 March 2018
TargetSergei Viktorovich Skripal
Yulia Sergeevna Skripal
WeaponsA-234 (su... | Poisoning of Sergei and Yulia Skripal | None | 30,386 | wikipedia | https://en.wikipedia.org/wiki/Poisoning_of_Sergei_and_Yulia_Skripal | 2021-01-18T18:33:49 | {"wikidata": ["Q50415393"]} |
Hereditary elliptocytosis
Other namesOvalocytosis, elliptocytes, ovalocytes
Peripheral blood smear showing an abundant number of elliptocytes
SpecialtyHematology
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blo... | Hereditary elliptocytosis | c0013902 | 30,387 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_elliptocytosis | 2021-01-18T18:35:14 | {"gard": ["6621"], "mesh": ["D004612"], "umls": ["C0013902"], "orphanet": ["288"], "wikidata": ["Q2298020"]} |
## Summary
### Clinical characteristics.
DFNX1 nonsyndromic hearing loss and deafness is part of the spectrum of PRPS1-related disorders. Hearing loss in hemizygous males is bilateral, sensorineural, and moderate to profound; prelingual or postlingual in onset; and progressive or non-progressive. The audiogram ... | DFNX1 Nonsyndromic Hearing Loss and Deafness | None | 30,388 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK57098/ | 2021-01-18T21:31:26 | {"synonyms": ["DFN2 Nonsyndromic Hearing Loss and Deafness"]} |
## Clinical Features
Kaitila et al. (1982) described a brother and sister with a previously unrecognized form of disproportionate short stature. The brother had tracheobronchial malacia and progressive scoliosis. The trachea and bronchi were reinforced with surrounding acrylate mesh before surgical treatment of the... | METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE | c1855217 | 30,389 | omim | https://www.omim.org/entry/250230 | 2019-09-22T16:25:26 | {"mesh": ["C565400"], "omim": ["250230"], "orphanet": ["166038"]} |
## Summary
### Clinical characteristics.
Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early child... | Perrault Syndrome | c0685838 | 30,390 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK242617/ | 2021-01-18T21:03:59 | {"mesh": ["C537286"], "synonyms": []} |
A number sign (#) is used with this entry because combined pituitary hormone deficiency-1 (CPHD1) is caused by homozygous or compound heterozygous mutation in the POU1F1 gene (173110) on chromosome 3p11.
Description
Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (G... | PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | c2751608 | 30,391 | omim | https://www.omim.org/entry/613038 | 2019-09-22T15:59:54 | {"doid": ["9406"], "mesh": ["C567803"], "omim": ["613038"], "orphanet": ["95494"], "synonyms": ["Familial congenital hypopituitarism", "Multiple pituitary hormone deficiencies, genetic forms"]} |
Thiopurine S-methyltransferase deficiency is an autosomal recessive disorder that affects the body's ability to metabolize thiopurine drugs. Thiopurine S-methyltransferase (TPMT) is an enzyme that the body uses to break down thiopurine drugs. Thiopurine S-methyltransferase deficiency patients have a mutation in eithe... | Thiopurine S methyltranferase deficiency | c0342801 | 30,392 | gard | https://rarediseases.info.nih.gov/diseases/5173/thiopurine-s-methyltranferase-deficiency | 2021-01-18T17:57:22 | {"mesh": ["C536512"], "omim": ["610460"], "orphanet": ["3315"], "synonyms": ["TPMT deficiency", "Thiopurines, poor metabolism of", "Thiopurine methyltransferase deficiency", "6-mercaptopurine sensitivity"]} |
Queen bee syndrome was first defined by G.L. Staines, T.E. Jayaratne, and C. Tavris in 1973.[1] It describes a woman in a position of authority who views or treats subordinates more critically if they are female.
This phenomenon has been documented by several studies.[2][3] In another study, scientists from the Univ... | Queen bee syndrome | None | 30,393 | wikipedia | https://en.wikipedia.org/wiki/Queen_bee_syndrome | 2021-01-18T18:51:08 | {"wikidata": ["Q7270562"]} |
Parental alienation syndrome (PAS) is a term introduced by child psychiatrist Richard Gardner in 1985[1] to describe a distinctive suite of behaviors in children that includes showing extreme but unwarranted fear, disrespect or hostility towards a parent.[2] Gardner believed that a set of behaviors that he observ... | Parental alienation syndrome | None | 30,394 | wikipedia | https://en.wikipedia.org/wiki/Parental_alienation_syndrome | 2021-01-18T18:49:35 | {"wikidata": ["Q1334131"]} |
Presence of virus in the blood
Viremia
Other namesViraemia
SpecialtyInfectious disease
Viremia is a medical condition where viruses enter the bloodstream and hence have access to the rest of the body. It is similar to bacteremia, a condition where bacteria enter the bloodstream.[1] The name comes from combi... | Viremia | c0042749 | 30,395 | wikipedia | https://en.wikipedia.org/wiki/Viremia | 2021-01-18T18:47:18 | {"mesh": ["D014766"], "wikidata": ["Q1425304"]} |
Schinzel Giedion syndrome (SGS) is a rare, severe condition that is present from birth and affects many parts of the body. Features of SGS include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system,... | Schinzel Giedion syndrome | c0265227 | 30,396 | gard | https://rarediseases.info.nih.gov/diseases/117/schinzel-giedion-syndrome | 2021-01-18T17:57:49 | {"mesh": ["C536632"], "omim": ["269150"], "orphanet": ["798"], "synonyms": ["Schinzel Giedion midface-retraction syndrome", "SGS", "Schinzel-Giedion syndrome"]} |
Grain itch
Other namesBarley itch, Mattress itch, Prairie itch, Straw itch
SpecialtyDermatology
Grain itch is a cutaneous condition caused by several types of mites, and characterized by intense pruritus.[1]:454
## See also[edit]
* Grocer's itch
* List of cutaneous conditions
* List of mites associat... | Grain itch | c0344070 | 30,397 | wikipedia | https://en.wikipedia.org/wiki/Grain_itch | 2021-01-18T19:09:59 | {"umls": ["C0344070", "C0344074"], "wikidata": ["Q4191607"]} |
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progr... | Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome | c2931125 | 30,398 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1192 | 2021-01-23T18:32:14 | {"gard": ["2279"], "mesh": ["C536178"], "omim": ["209010"], "umls": ["C2931125"], "icd-10": ["I70.9"], "synonyms": ["Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome", "Feigenbaum-Bergeron-Richardson syndrome"]} |
A rare systemic amyloidosis characterized by combination of various symptoms, depending on the organ involved. Common clinical features are cardiac failure, cardiac conduction anomalies or arrhythmia, renal dysfunction, carpal tunnel syndrome and spinal canal stenosis. Histology reveals fibrillary amyloid deposition ... | Wild type ATTR amyloidosis | c2732618 | 30,399 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=330001 | 2021-01-23T17:12:58 | {"icd-10": ["E85.8"], "synonyms": ["ATTRwt amyloidosis", "ATTRwt-related amyloidosis", "SSA", "Senile systemic amyloidosis", "Wild type ATTR-related amyloidosis"]} |
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