text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous ... | Hereditary clear cell renal cell carcinoma | c0279702 | 4,300 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=422526 | 2021-01-23T18:02:37 | {"gard": ["9571"], "mesh": ["D002292"], "omim": ["144700"], "icd-10": ["C64"], "synonyms": ["Hereditary clear cell renal cell adenocarcinoma"]} |
Hitzig (1959) reported an autosomal dominant form of chronic familial neutropenia. The father, aged 36, a son, aged 8, and a daughter, aged 4, were affected. The blood and marrow findings were similar to those in severe congenital neutropenia (202700), but severe infections were not a feature.
Levine (1959) describe... | NEUTROPENIA, CHRONIC FAMILIAL | c3665676 | 4,301 | omim | https://www.omim.org/entry/162700 | 2019-09-22T16:37:24 | {"mesh": ["C535815"], "omim": ["162700"], "synonyms": ["Alternative titles", "LEUKOPENIA, BENIGN FAMILIAL"]} |
Cranberry Root Rot (CRR) is a disease in cranberries that can cause a decline in yield.
## Contents
* 1 Hosts and symptoms
* 2 Disease cycle
* 3 Management
* 4 References
## Hosts and symptoms[edit]
It is categorized by a decline in vine density, and more severe cases can result in dieback of vines over l... | Cranberry root rot | None | 4,302 | wikipedia | https://en.wikipedia.org/wiki/Cranberry_root_rot | 2021-01-18T18:49:10 | {"wikidata": ["Q104177884"]} |
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brac... | Acroosteolysis-keloid-like lesions-premature aging syndrome | c1866182 | 4,303 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363665 | 2021-01-23T18:43:03 | {"gard": ["4276"], "mesh": ["C536653"], "omim": ["601812"], "umls": ["C1866182"], "icd-10": ["E34.8"], "synonyms": ["Premature aging syndrome, Penttinen type"]} |
Stocks (1922-23) made a distinction between facial tic (or habit spasm), which is a movement of a coordinated group of facial muscles not entirely beyond the control of the will and not occurring during sleep, and facial spasm, which is usually confined to the muscles supplied by the facial nerve or one branch thereo... | FACIAL SPASM | c0278151 | 4,304 | omim | https://www.omim.org/entry/134300 | 2019-09-22T16:41:15 | {"omim": ["134300"]} |
Hallidie-Smith and Olsen (1968) described a girl and her 2 affected brothers. Mitral regurgitation was present. The parents were not related.
Cardiac \- Mitral regurgitation \- Endocardial fibroelastosis \- Cardiomyopathy Inheritance \- Autosomal recessive Vascular \- Coarctation of abdominal aorta ▲ Close
*[v... | ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA | c1856971 | 4,305 | omim | https://www.omim.org/entry/226100 | 2019-09-22T16:28:24 | {"mesh": ["C565592"], "omim": ["226100"]} |
Anaplastic astrocytoma
Micrograph of an anaplastic astrocytoma. H&E stain.
SpecialtyNeurosurgery
Anaplastic astrocytoma is a rare WHO grade III type of astrocytoma, which is a type of cancer of the brain. In the United States, the annual incidence rate for Anaplastic astrocytoma is 0.44 per 100,000 people [1... | Anaplastic astrocytoma | c0334579 | 4,306 | wikipedia | https://en.wikipedia.org/wiki/Anaplastic_astrocytoma | 2021-01-18T18:40:43 | {"gard": ["5860"], "mesh": ["D001254"], "umls": ["C0334579"], "icd-10": ["C71"], "orphanet": ["251589"], "wikidata": ["Q486092"]} |
## Description
Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, wher... | PONTINE TEGMENTAL CAP DYSPLASIA | c3541340 | 4,307 | omim | https://www.omim.org/entry/614688 | 2019-09-22T15:54:31 | {"omim": ["614688"], "orphanet": ["269229"], "synonyms": ["PTCD"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Kannabiran et al. (2012) described a large Indian family in which 14 of 34 individuals studied had retinitis pigmentosa. Age at presentation ranged from 16 to 65 years, and in most c... | RETINITIS PIGMENTOSA 63 | c0035334 | 4,308 | omim | https://www.omim.org/entry/614494 | 2019-09-22T15:55:05 | {"doid": ["0110385"], "mesh": ["D012174"], "omim": ["614494"], "orphanet": ["791"]} |
Dermatophytid
SpecialtyDermatology
Dermatophytids are fungus-free disseminated skin lesions resulting from induced sensitization in patients with ringworm infections.[1]:301
The most common dermatophytid is an inflammation in the hands resulting from a fungus infection of the feet. Dermatophytids normally dis... | Dermatophytid | c0343041 | 4,309 | wikipedia | https://en.wikipedia.org/wiki/Dermatophytid | 2021-01-18T19:08:04 | {"umls": ["C0343041"], "icd-10": ["L30.2"], "wikidata": ["Q5262708"]} |
"Alzheimer" redirects here. For other uses, see Alzheimer (disambiguation).
Progressive, neurodegenerative disease characterized by memory loss
Alzheimer's disease
Other namesAlzheimer disease, Alzheimer's
Comparison of a normal aged brain (left) and the brain of a person with Alzheimer's (right). Character... | Alzheimer's disease | c0002395 | 4,310 | wikipedia | https://en.wikipedia.org/wiki/Alzheimer%27s_disease | 2021-01-18T19:03:47 | {"gard": ["10254"], "mesh": ["D000544"], "umls": ["C0002395"], "wikidata": ["Q11081"]} |
Low blood volume
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (June 2009) (Learn how and when to remove this template message)
Hypovolemia
Other namesOligemia, hypovolaemia, oligae... | Hypovolemia | c0546884 | 4,311 | wikipedia | https://en.wikipedia.org/wiki/Hypovolemia | 2021-01-18T18:44:34 | {"mesh": ["D020896"], "umls": ["C0546884"], "icd-9": ["276.52"], "icd-10": ["T81.1", "E86", "R57.1"], "wikidata": ["Q1320276"]} |
Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes... | Peutz-Jeghers syndrome | c0031269 | 4,312 | gard | https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome | 2021-01-18T17:58:21 | {"mesh": ["D010580"], "omim": ["175200"], "umls": ["C0031269"], "orphanet": ["2869"], "synonyms": ["Polyposis, hamartomatous intestinal", "PJS", "Polyps-and-spots syndrome", "Peutz Jeghers polyposis", "Periorificial lentiginosis syndrome", "Lentiginosis, perioral"]} |
A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and sma... | Toluene embryopathy | c2931737 | 4,313 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1920 | 2021-01-23T17:32:04 | {"mesh": ["C538114"], "icd-10": ["Q86.8"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive peripheral neuropathy with or without impaired intellectual development (PNRIID) is caused by homozygous or compound heterozygous mutation in the MCM3AP gene (603294) on chromosome 21q22.
Description
Autosomal recessive periphera... | PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | None | 4,314 | omim | https://www.omim.org/entry/618124 | 2019-09-22T15:43:33 | {"omim": ["618124"]} |
X-linked dominant condition characterised by neurological and retinal abnormalities
Not to be confused with Aicardi–Goutières syndrome.
Aicardi syndrome
Other namesAgenesis of corpus callosum with chorioretinal abnormality[1]
This condition is inherited in an X-linked dominant manner.
SpecialtyMedical genetic... | Aicardi syndrome | c0175713 | 4,315 | wikipedia | https://en.wikipedia.org/wiki/Aicardi_syndrome | 2021-01-18T18:36:22 | {"gard": ["5764"], "mesh": ["D058540"], "umls": ["C0175713"], "icd-9": ["742.2"], "orphanet": ["50"], "wikidata": ["Q403463"]} |
Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, ... | Ileal neuroendocrine tumor | c4525628 | 4,316 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100078 | 2021-01-23T18:03:55 | {"synonyms": ["Ileal neuroendocrine neoplasm"]} |
A number sign (#) is used with this entry because primary ciliary dyskinesia-20 (CILD20) is caused by homozygous or compound heterozygous mutation in the CCDC114 gene (615038) on chromosome 19q13.
Description
CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infec... | CILIARY DYSKINESIA, PRIMARY, 20 | c0022521 | 4,317 | omim | https://www.omim.org/entry/615067 | 2019-09-22T15:53:16 | {"doid": ["0110625"], "mesh": ["D007619"], "omim": ["244400", "615067"], "orphanet": ["244"], "synonyms": ["Alternative titles", "PCD", "CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS"], "genereviews": ["NBK1122"]} |
Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
## Epidemiology
It has been described in 18 females, six of whom came from four different generations of the same family.
## Clinica... | Terminal osseous dysplasia-pigmentary defects syndrome | c1846129 | 4,318 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88630 | 2021-01-23T17:42:31 | {"mesh": ["C564554"], "omim": ["300244"], "umls": ["C1846129"], "icd-10": ["Q87.2"]} |
A number sign (#) is used with this entry because multiple endocrine neoplasia type I (MEN1) is caused by heterozygous mutation in the MEN1 gene (613733) on chromosome 11q13.
Description
Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by varying combinations of tumors of p... | MULTIPLE ENDOCRINE NEOPLASIA, TYPE I | c0025267 | 4,319 | omim | https://www.omim.org/entry/131100 | 2019-09-22T16:41:45 | {"doid": ["10017"], "mesh": ["D018761"], "omim": ["131100"], "icd-9": ["258.01"], "icd-10": ["E31.21"], "orphanet": ["652"], "synonyms": ["Alternative titles", "MEN I", "ENDOCRINE ADENOMATOSIS, MULTIPLE", "MEA I", "WERMER SYNDROME"], "genereviews": ["NBK1538"]} |
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 2016) (Learn how and when to remove this template message)
Post-schizophrenic depress... | Post-schizophrenic depression | c0338808 | 4,320 | wikipedia | https://en.wikipedia.org/wiki/Post-schizophrenic_depression | 2021-01-18T18:31:23 | {"icd-10": ["F20.4"], "wikidata": ["Q3208285"]} |
A common discoloration of tissue in the mouth
Amalgam tattoo
Other namesLocalized argyrosis,[1] focal argyrosis[2][nb 1]
Amalgam tattoo in upper labial sulcus in an edentulous individual, left behind after teeth have been lost/extracted
SpecialtyDentistry
Amalgam tattoo is a grey, blue or black area o... | Amalgam tattoo | c0399493 | 4,321 | wikipedia | https://en.wikipedia.org/wiki/Amalgam_tattoo | 2021-01-18T19:00:50 | {"wikidata": ["Q16242812"]} |
A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into mult... | Extraskeletal myxoid chondrosarcoma | c1275278 | 4,322 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209916 | 2021-01-23T18:28:31 | {"mesh": ["C563195"], "omim": ["612237"], "umls": ["C1275278"], "icd-10": ["C49.9"]} |
Horseshoe kidney
SpecialtyNephrology
Horseshoe kidney, also known as ren arcuatus (in Latin), renal fusion or super kidney, is a congenital disorder affecting about 1 in 500 people that is more common in men, often asymptomatic, and usually diagnosed incidentally.[1][2] In this disorder, the patient's kidneys ... | Horseshoe kidney | c0221353 | 4,323 | wikipedia | https://en.wikipedia.org/wiki/Horseshoe_kidney | 2021-01-18T18:29:47 | {"gard": ["2739"], "mesh": ["D000069337"], "icd-9": ["753.3"], "icd-10": ["Q63.1"], "orphanet": ["3029"], "wikidata": ["Q1634033"]} |
A number sign (#) is used with this entry because of evidence that neovascular inflammatory vitreoretinopathy (VRNI) is caused by heterozygous mutation in the CAPN5 gene (602537) on chromosome 11q14.
Description
Autosomal dominant neovascular inflammatory vitreoretinopathy is a blinding disorder that shares som... | VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY | c0242852 | 4,324 | omim | https://www.omim.org/entry/193235 | 2019-09-22T16:31:55 | {"mesh": ["D018630"], "omim": ["193235"], "orphanet": ["329211"], "synonyms": ["VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, AUTOSOMAL DOMINANT", "Alternative titles", "PROLIFERATIVE VITREORETINOPATHY", "ADNIV"]} |
## Clinical Features
Kleiner and Holmes (1980) described 2 brothers with bilateral hallux varus. The propositus had clinodactyly of both fifth fingers. Radiographs showed that the first metatarsals and phalanges of both great toes were broad, short, and misshapen. His younger brother had preaxial polysyndactyly of ... | HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY | c1856197 | 4,325 | omim | https://www.omim.org/entry/234280 | 2019-09-22T16:27:13 | {"mesh": ["C536885"], "omim": ["234280"], "orphanet": ["2110"]} |
A number sign (#) is used with this entry because type A1 brachydactyly is caused by heterozygous mutation in the Indian hedgehog gene (IHH; 600726) on chromosome 2q35.
Description
In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have... | BRACHYDACTYLY, TYPE A1 | c1862151 | 4,326 | omim | https://www.omim.org/entry/112500 | 2019-09-22T16:44:07 | {"doid": ["0110964"], "mesh": ["C537088"], "omim": ["112500"], "orphanet": ["93388"], "synonyms": ["Alternative titles", "FARABEE-TYPE BRACHYDACTYLY"]} |
GATAD2B-associated neurodevelopmental disorder (GAND) affects the way the brain develops. Symptoms of GAND include moderate to severe intellectual disability, poor speech development, and large head size. Other signs and symptoms may include low muscle tone in children (childhood hypotonia), feeding problems, heart p... | GATAD2B-associated neurodevelopmental disorder | c3554448 | 4,327 | gard | https://rarediseases.info.nih.gov/diseases/12815/gatad2b-associated-neurodevelopmental-disorder | 2021-01-18T18:00:22 | {"omim": ["615074"], "orphanet": ["363686"], "synonyms": ["Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"]} |
A number sign (#) is used with this entry because the phenotype is caused by mutation in the mitochondrially-encoded tRNA-glu gene (MTTE; 590025).
Clinical Features
Worsfold et al. (1973) described a kindred in which persons in 4 generations showed a myopathy with expression ranging from subclinical to moderately s... | MITOCHONDRIAL MYOPATHY WITH DIABETES | c1839028 | 4,328 | omim | https://www.omim.org/entry/500002 | 2019-09-22T16:16:57 | {"mesh": ["C564026"], "omim": ["500002"], "orphanet": ["2596"], "synonyms": ["Alternative titles", "MITOCHONDRIAL MYOPATHY, LIPID TYPE"]} |
A number sign (#) is used with this entry because X-linked thrombocytopenia with beta-thalassemia (XLTT) is caused by mutation in the gene encoding GATA-binding protein-1 (GATA1; 305371) on chromosome Xp11.
Description
XLTT is an X-linked recessive hematologic disorder characterized by variable thrombocytopenia, he... | THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED | c1839161 | 4,329 | omim | https://www.omim.org/entry/314050 | 2019-09-22T16:17:08 | {"mesh": ["C564050"], "omim": ["314050"], "orphanet": ["231393"], "synonyms": ["Alternative titles", "THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS", "XLTT"], "genereviews": ["NBK1364"]} |
A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, mass lesions, enlarged kidneys and hydronephrosis.
## Epidemiology
The... | IgG4-related kidney disease | None | 4,330 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=449395 | 2021-01-23T18:09:39 | {"icd-10": ["N11.8"]} |
Human autoimmune disease
This article is about the most common type of lupus. For the broader group of diseases known as "lupus", see Lupus erythematosus.
"SLE" redirects here. For other uses, see Lupus (disambiguation) and SLE (disambiguation).
Lupus
Other namesSystemic lupus erythematosus (SLE)
Young woman w... | Lupus | c0024141 | 4,331 | wikipedia | https://en.wikipedia.org/wiki/Lupus | 2021-01-18T19:09:01 | {"gard": ["10253"], "mesh": ["D008180"], "umls": ["C0024141"], "orphanet": ["536"], "wikidata": ["Q1485"]} |
A number sign (#) is used with this entry because of evidence that familial cold autoinflammatory syndrome-2 (FCAS2) is caused by heterozygous mutation in the NLRP12 gene (609648) on chromosome 19q13.
Description
Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorde... | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 | c2673198 | 4,332 | omim | https://www.omim.org/entry/611762 | 2019-09-22T16:02:52 | {"doid": ["0090063"], "mesh": ["C567090"], "omim": ["611762"], "orphanet": ["247868"]} |
X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual ... | X-linked juvenile retinoschisis | c3714753 | 4,333 | medlineplus | https://medlineplus.gov/genetics/condition/x-linked-juvenile-retinoschisis/ | 2021-01-27T08:25:26 | {"gard": ["4690"], "omim": ["312700"], "synonyms": []} |
## Summary
### Clinical characteristics.
Prothrombin-related thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin-related thrombophilia is variable; many individuals het... | Prothrombin-Related Thrombophilia | c1867596 | 4,334 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1148/ | 2021-01-18T21:01:28 | {"mesh": ["C566755"], "synonyms": ["F2-Related Thrombophilia", "Factor II-Related Thrombophilia", "Prothrombin 20210G>A Thrombophilia", "Prothrombin G20210A Thrombophilia", "Prothrombin Thrombophilia"]} |
Hepatoid tumor or hepatoid [adeno]carcinoma are terms for a number of uncommon or rare neoplasms in humans, named for a visual resemblance of the cells under the microscope to those of hepatocellular carcinoma, the most common form of liver cancer. They can arise in several parts of the body, and thus form sub-types ... | Hepatoid tumor | c1266090 | 4,335 | wikipedia | https://en.wikipedia.org/wiki/Hepatoid_tumor | 2021-01-18T18:41:17 | {"umls": ["C1266090"], "wikidata": ["Q23037783"]} |
Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and ... | Midline interhemispheric variant of holoprosencephaly | c1834877 | 4,336 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93926 | 2021-01-23T17:23:52 | {"mesh": ["C563579"], "omim": ["157170", "609637", "610829"], "icd-10": ["Q04.2"], "synonyms": ["MIH", "MIH type HPE", "MIHF", "MIHV", "Middle interhemispheric fusion variant", "Middle interhemispheric variant of holoprosencephaly", "Syntelencephaly"]} |
Alopecia universalis
French actor Tómas Lemarquis with alopecia universalis
SpecialtyDermatology
Alopecia universalis (AU), also known as alopecia areata universalis, is a medical condition involving the loss of all body hair, including eyebrows, eyelashes, chest hair, armpit hair, and pubic hair. It is the ... | Alopecia universalis | c0263505 | 4,337 | wikipedia | https://en.wikipedia.org/wiki/Alopecia_universalis | 2021-01-18T18:30:59 | {"gard": ["614"], "mesh": ["C537055"], "icd-10": ["L63.1"], "wikidata": ["Q4734616"]} |
## Mapping
Tanaka et al. (2009) performed a genomewide association analysis to investigate genetic factors affecting plasma levels of vitamin B6 in the InCHIANTI (1,175 participants) study. The top locus, rs4654748, which is in the NBPF3 (612992) gene and 5-prime of the ALPL gene (171760) in a region of tight l... | VITAMIN B6 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 | c2751828 | 4,338 | omim | https://www.omim.org/entry/612957 | 2019-09-22T16:00:10 | {"omim": ["612957"]} |
22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome disorder caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) of the chromosome at a location designated as q13.3. Not everyone with 22q13.3 deletion syndrome will... | 22q13.3 deletion syndrome | c1853490 | 4,339 | gard | https://rarediseases.info.nih.gov/diseases/10130/22q133-deletion-syndrome | 2021-01-18T18:02:25 | {"mesh": ["C536801"], "omim": ["606232"], "umls": ["C1853490"], "orphanet": ["48652"], "synonyms": ["Phelan-McDermid syndrome", "Deletion 22q13.3 syndrome", "Chromosome 22q13.3 deletion syndrome", "Monosomy 22q13", "22q13 deletion", "22q13.3 deletion", "Monosomy 22q13.3"]} |
## Clinical Features
Tiemann et al. (2005) reported 3 male newborns from a consanguineous Lebanese family with a rapidly fatal syndrome consisting of fetal akinesia deformation sequence (FADS; see 208150), inguinal hernias, hearing loss, and myopathic changes biochemically characterized by elevated glycogen content... | ARTHROGRYPOSIS MULTIPLEX WITH DEAFNESS, INGUINAL HERNIAS, AND EARLY DEATH | c1864939 | 4,340 | omim | https://www.omim.org/entry/610001 | 2019-09-22T16:05:15 | {"mesh": ["C535381"], "omim": ["610001"]} |
HIV/AIDS in China can be traced to an initial outbreak of the human immunodeficiency virus (HIV) first recognized in 1989 among injecting drug users along China's southern border.[1][2] Figures from the Chinese Center for Disease Control and Prevention, World Health Organization, and UNAIDS estimate that there were 1... | HIV/AIDS in China | None | 4,341 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_China | 2021-01-18T19:08:01 | {"wikidata": ["Q871719"]} |
A rare, life-threatening mutliple congenital anomalies syndrome characterized by intrauterine growth restriction, postnatal failure to thrive and facial dysmorphism (microcephaly or trigonocephaly, prominent glabellar nevus flammeus (simplex) fading with age, hypotonic facies, low frontal and temporal hairline, h... | Bohring-Opitz syndrome | c0796232 | 4,342 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97297 | 2021-01-23T18:43:56 | {"gard": ["10140"], "mesh": ["C537419"], "omim": ["605039"], "umls": ["C0796232"], "icd-10": ["Q87.8"], "synonyms": ["BOS syndrome", "Bohring syndrome", "C-like syndrome", "Oberklaid-Danks syndrome", "Opitz trigonocephaly-like syndrome"]} |
Phototoxicity
Other namesPhotoirritation
Effect of the common rue on skin in hot weather.
SpecialtyDermatology
Phototoxicity, also called photoirritation, is a chemically induced skin irritation, requiring light, that does not involve the immune system.[1] It is a type of photosensitivity.[1][2]
The skin ... | Phototoxicity | c1527358 | 4,343 | wikipedia | https://en.wikipedia.org/wiki/Phototoxicity | 2021-01-18T18:41:42 | {"mesh": ["D017484"], "wikidata": ["Q2088972"]} |
A nipple bleb is a blister on the nipple that can be filled with serous or other fluid. It may be pink or light yellow.[1] It is thin-walled and may appear as a small blister, more than 5 mm in diameter. It can also be referred to as a bulla. Some clinicians may also include milk blisters as a type of bleb. In additi... | Nipple bleb | None | 4,344 | wikipedia | https://en.wikipedia.org/wiki/Nipple_bleb | 2021-01-18T18:41:43 | {"wikidata": ["Q36120397"]} |
A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric a... | HELLP syndrome | c0162739 | 4,345 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=244242 | 2021-01-23T18:19:16 | {"gard": ["8528"], "mesh": ["D017359"], "umls": ["C0162739"], "icd-10": ["O14.2"], "synonyms": ["Hemolysis, elevated liver enzymes, low platelets in pregnancy", "Hemolysis-elevated liver enzymes-low platelets syndrome"]} |
MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities. It has also been proposed that mental (intellectual) disability may be used as an identifying feature of ... | MOMO syndrome | c1834759 | 4,346 | gard | https://rarediseases.info.nih.gov/diseases/178/momo-syndrome | 2021-01-18T17:59:00 | {"mesh": ["C535812"], "omim": ["157980"], "umls": ["C1834759"], "orphanet": ["2563"], "synonyms": ["Macrosomia, obesity, macrocephaly, ocular abnormalities", "Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)"]} |
Absence of ventricular contractions in the context of a lethal heart arrhythmia
Asystole
Other namesCardiac flatline
A rhythm strip showing two beats of normal sinus rhythm followed by an atrial beat and asystole
Pronunciation
* /əˈsɪstəliː/
SpecialtyCardiology
Asystole is the absence of ventric... | Asystole | c0018790 | 4,347 | wikipedia | https://en.wikipedia.org/wiki/Asystole | 2021-01-18T18:38:13 | {"mesh": ["D006323"], "icd-9": ["427.9"], "icd-10": ["I46.0"], "wikidata": ["Q752800"]} |
A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
## Epidemiology
To date, more than 400 cases... | Norrie disease | c0266526 | 4,348 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=649 | 2021-01-23T18:41:18 | {"gard": ["7224"], "mesh": ["C537849"], "omim": ["310600"], "umls": ["C0266526"], "icd-10": ["H35.5"], "synonyms": ["Atrophia bulborum hereditaria", "Episkopi blindness", "Norrie-Warburg disease"]} |
Angioma serpiginosum
SpecialtyDermatology
Angioma serpiginosum is characterized by minute, copper-colored to bright red angiomatous puncta that have a tendency to become papular.[1]:592–3[2]
## See also[edit]
* Skin lesion
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger... | Angioma serpiginosum | c0263637 | 4,349 | wikipedia | https://en.wikipedia.org/wiki/Angioma_serpiginosum | 2021-01-18T18:29:30 | {"gard": ["10188"], "mesh": ["C536366"], "umls": ["C0263637"], "orphanet": ["95429"], "wikidata": ["Q4763279"]} |
A number sign (#) is used with this entry because of evidence that hereditary spastic paraplegia-72 (SPG72) is caused by heterozygous or compound heterozygous mutation in the REEP2 gene (609347) on chromosome 5q31. Autosomal dominant inheritance was reported in one family and autosomal recessive inheritance in an... | SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE | c3810160 | 4,350 | omim | https://www.omim.org/entry/615625 | 2019-09-22T15:51:23 | {"doid": ["0110817"], "omim": ["615625"], "orphanet": ["401849"], "synonyms": ["SPG72"]} |
A number sign (#) is used with this entry because of evidence that moyamoya disease-5 (MYMY5) is caused by heterozygous mutation in the ACTA2 gene (102620) on chromosome 10q23.
See also familial thoracic aortic aneurysm-6 (AAT6; 611788), which is an allelic vascular disorder.
Description
Moyamoya disease is a cere... | MOYAMOYA DISEASE 5 | c0026654 | 4,351 | omim | https://www.omim.org/entry/614042 | 2019-09-22T15:56:42 | {"doid": ["13099"], "mesh": ["D009072"], "omim": ["614042"], "orphanet": ["2573"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
Human height is a classic, highly heritable quantitative trait. To identify genetic variants influencing height, Weedon et al. (2007) examined genomewide association data from 4,921 individuals. Co... | STATURE QUANTITATIVE TRAIT LOCUS 9 | c1969061 | 4,352 | omim | https://www.omim.org/entry/611547 | 2019-09-22T16:03:09 | {"omim": ["611547"]} |
A number sign (#) is used with this entry because of evidence that Singleton-Merten syndrome-2 (SGMRT2) is caused by heterozygous mutation in the DDX58 gene (609631) on chromosome 9p21.
Description
Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal ab... | SINGLETON-MERTEN SYNDROME 2 | c0432254 | 4,353 | omim | https://www.omim.org/entry/616298 | 2019-09-22T15:49:21 | {"mesh": ["C537343"], "omim": ["616298"], "orphanet": ["85191"]} |
A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointes... | Down syndrome | c0013080 | 4,354 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=870 | 2021-01-23T17:53:56 | {"mesh": ["D004314"], "omim": ["190685"], "umls": ["C0013080"], "icd-10": ["Q90.0", "Q90.1", "Q90.2", "Q90.9"], "synonyms": ["Trisomy 21"]} |
Specific phobia that involves an irrational fear of contracting a disease
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: "Nosophobia" – news · newspapers · books · sc... | Nosophobia | None | 4,355 | wikipedia | https://en.wikipedia.org/wiki/Nosophobia | 2021-01-18T18:32:34 | {"icd-9": ["300.29"], "icd-10": ["F45.2"], "wikidata": ["Q3052614"]} |
Anti-MAG peripheral neuropathy
Other namesNeuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein
SpecialtyImmunology, neurology
Anti-MAG Peripheral Neuropathy is a specific type of peripheral neuropathy in which the person's own immune system attacks cells that are specifi... | Anti-MAG peripheral neuropathy | c1736154 | 4,356 | wikipedia | https://en.wikipedia.org/wiki/Anti-MAG_peripheral_neuropathy | 2021-01-18T18:51:55 | {"umls": ["C1736154"], "orphanet": ["639"], "wikidata": ["Q4774221"]} |
Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
## Epidemiology
The overall prevalence and incidence of these conditions is difficult to estimate but autosomal rece... | Osteopetrosis and related disorders | c0029454 | 4,357 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2781 | 2021-01-23T17:52:06 | {"gard": ["4155"], "mesh": ["D010022"], "umls": ["C0029454"], "icd-10": ["Q78.2"]} |
This lead 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: "Hypervitaminosis" – news · newspapers · books · scholar · JSTOR (February 2017) (Learn how and when to remove this templat... | Hypervitaminosis | c0342951 | 4,358 | wikipedia | https://en.wikipedia.org/wiki/Hypervitaminosis | 2021-01-18T18:30:00 | {"umls": ["C0342951"], "icd-9": ["278.2", "38.38"], "icd-10": ["E67"], "wikidata": ["Q423927"]} |
A number sign (#) is used with this entry because Fanconi anemia of complementation group D2 (FANCD2) is caused by compound heterozygous or homozygous mutation in the FANCD2 gene (613984) on chromosome 3p25.
Description
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genom... | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | c0015625 | 4,359 | omim | https://www.omim.org/entry/227646 | 2019-09-22T16:27:56 | {"doid": ["0111083"], "mesh": ["D005199"], "omim": ["227646"], "orphanet": ["84"], "synonyms": ["Alternative titles", "FAD2", "FANCONI ANEMIA, COMPLEMENTATION GROUP D", "FANCONI PANCYTOPENIA, TYPE 4"], "genereviews": ["NBK1401", "NBK5192"]} |
IgG4-related skin disease
SpecialtyDermatology
IgG4-related skin disease is the recommended name for skin manifestations in IgG4-related disease (IgG4-RD).[1] Multiple different skin manifestations have been described.
## Contents
* 1 Classification
* 2 See also
* 3 References
* 4 External links
## ... | IgG4-related skin disease | None | 4,360 | wikipedia | https://en.wikipedia.org/wiki/IgG4-related_skin_disease | 2021-01-18T19:02:17 | {"wikidata": ["Q25339485"]} |
Non-inflammatory kidney disease
Not to be confused with necrosis, nephritis, or nephrotic syndrome.
Nephrosis
SpecialtyNephrology
Nephrosis is any of various forms of kidney disease (nephropathy). In an old and broad sense of the term, it is any nephropathy,[1] but in current usage the term is usually re... | Nephrosis | c0027720 | 4,361 | wikipedia | https://en.wikipedia.org/wiki/Nephrosis | 2021-01-18T18:41:03 | {"mesh": ["D009401"], "umls": ["C0027720"], "wikidata": ["Q6995207"]} |
A number sign (#) is used with this entry because myofibrillar myopathy-5 (MFM5) is caused by heterozygous mutation in the FLNC gene (102565) on chromosome 7q32.
For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).
Mutation in the FLNC... | MYOPATHY, MYOFIBRILLAR, 5 | c1836050 | 4,362 | omim | https://www.omim.org/entry/609524 | 2019-09-22T16:06:00 | {"doid": ["0080096"], "mesh": ["C537932"], "omim": ["609524"], "orphanet": ["171445"], "synonyms": ["Alternative titles", "MYOPATHY, MYOFIBRILLAR, FILAMIN C-RELATED", "FILAMINOPATHY, AUTOSOMAL DOMINANT"]} |
Pelizaeus-Merzbacher-like disease type 1 is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are abnormalities of the nervous system's white matter, which consists of nerve fibers covered ... | Pelizaeus-Merzbacher-like disease type 1 | c1837355 | 4,363 | medlineplus | https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1/ | 2021-01-27T08:24:50 | {"gard": ["12300"], "mesh": ["C563855"], "omim": ["608804"], "synonyms": []} |
For other uses, see Tetrasomy (disambiguation).
Tetrasomy
SpecialtyMedical genetics
A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome.
## Contents
* 1 Causes
* 1.1 Full
* 1.2 Autosomal tetrasomies
* 1.3 Sex-chromosome te... | Tetrasomy | c2936486 | 4,364 | wikipedia | https://en.wikipedia.org/wiki/Tetrasomy | 2021-01-18T18:32:06 | {"mesh": ["D058670"], "icd-10": ["Q97", "Q98"], "wikidata": ["Q906664"]} |
Actinic elastosis
Other namesSolar elastosis
Micrograph showing solar elastosis - grey, jumbled spaghetti-like material on bottom of image. H&E stain.
SpecialtyDermatology
Solar elastosis separates from the epidermis by a narrow band of normal-appearing collagen (grenz zone) with collagen fibers arrang... | Actinic elastosis | c0263415 | 4,365 | wikipedia | https://en.wikipedia.org/wiki/Actinic_elastosis | 2021-01-18T18:59:05 | {"icd-10": ["L57.8"], "wikidata": ["Q4676883"]} |
Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this di... | Pulmonary alveolar microlithiasis | c0155912 | 4,366 | gard | https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis | 2021-01-18T17:58:04 | {"mesh": ["C562405"], "omim": ["265100"], "orphanet": ["60025"], "synonyms": []} |
A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, ompha... | Methimazole embryofetopathy | c4510379 | 4,367 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1923 | 2021-01-23T17:36:02 | {"gard": ["3573"], "icd-10": ["Q86.8"], "synonyms": ["MMI/CMZ embryofetopathy", "MMI/CMZ embryopathy", "Methimazole/carbimazole embryofetopathy", "Methimazole/carbimazole embryopathy"]} |
A number sign (#) is used with this entry because of evidence that occipital cortical malformations are caused by homozygous or compound heterozygous mutations in the LAMC3 gene (604349) on chromosome 9q34.
Description
Occipital cortical malformations (OCCM) is an autosomal recessive condition in which affected ind... | CORTICAL MALFORMATIONS, OCCIPITAL | c3279875 | 4,368 | omim | https://www.omim.org/entry/614115 | 2019-09-22T15:56:27 | {"omim": ["614115"], "orphanet": ["280640"], "synonyms": ["Occipital MCD", "Occipital malformations of cortical development"]} |
## Description
Hypoglossia-hypodactyly syndrome is characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs. Intelligence is normal (Hall, 1971).
Hall (1971) classified what he termed the 'syndromes of oromandibular and limb hypog... | HYPOGLOSSIA-HYPODACTYLIA | c1863203 | 4,369 | omim | https://www.omim.org/entry/103300 | 2019-09-22T15:41:23 | {"mesh": ["C566308"], "omim": ["103300"], "orphanet": ["989"], "synonyms": ["Alternative titles", "PEROMELIA WITH MICROGNATHISM", "OROMANDIBULAR LIMB HYPOPLASIA", "AGLOSSIA-ADACTYLIA"]} |
Prelabor rupture of membranes
Other namesPremature rupture of membranes
Positive fern test with amniotic fluid as seen under the microscope
SpecialtyObstetrics
SymptomsPainless gush or a steady leakage of fluid from the vagina[1]
ComplicationsBaby: Premature birth, cord compression, infection[2][1]
Mother... | Prelabor rupture of membranes | c0015944 | 4,370 | wikipedia | https://en.wikipedia.org/wiki/Prelabor_rupture_of_membranes | 2021-01-18T19:04:40 | {"mesh": ["D005322"], "umls": ["C0015944"], "icd-9": ["658.1"], "icd-10": ["O42"], "wikidata": ["Q11703370"]} |
Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related t... | Ectopic aldosterone-producing tumor | None | 4,371 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231632 | 2021-01-23T18:57:36 | {"icd-10": ["E26.8"], "synonyms": ["Extra-adrenal aldosterone-producing tumor"]} |
A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma ... | Plasma cell leukemia | c0023484 | 4,372 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454714 | 2021-01-23T17:20:06 | {"gard": ["9373"], "mesh": ["D007952"], "umls": ["C0023484"], "icd-10": ["C90.1"], "synonyms": ["PCL"]} |
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Find sources: "Wheat yellow rust" – news · newspapers · books · scholar · JSTOR (July 2009) (Learn how and when to remove this templat... | Wheat yellow rust | None | 4,373 | wikipedia | https://en.wikipedia.org/wiki/Wheat_yellow_rust | 2021-01-18T19:02:29 | {"wikidata": ["Q7991848"]} |
A number sign (#) is used with this entry because Axenfeld-Rieger syndrome type 3 (RIEG3) is caused by heterozygous mutation in the FOXC1 gene (601090) on chromosome 6p25.
For a general phenotypic description and a discussion of genetic heterogeneity of Axenfeld-Rieger syndrome, see RIEG1 (180500).
See also chr... | AXENFELD-RIEGER SYNDROME, TYPE 3 | c0265341 | 4,374 | omim | https://www.omim.org/entry/602482 | 2019-09-22T16:13:40 | {"doid": ["0110122"], "mesh": ["C535679"], "omim": ["602482"], "orphanet": ["782", "98978", "91483"], "synonyms": ["Alternative titles", "AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS", "ANTERIOR CHAMBER CLEAVAGE SYNDROME", "RIEGER SYNDROME, TYPE 3"]} |
A number sign (#) is used with this entry because the autosomal recessive form of thyroid hormone resistance is caused by mutation in the thyroid hormone receptor gene (THRB; 190160). An autosomal dominant form of the disorder (188570) is caused by mutation in the same gene, as is selective pituitary resistance to th... | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE | c2940786 | 4,375 | omim | https://www.omim.org/entry/274300 | 2019-09-22T16:21:42 | {"doid": ["11633"], "mesh": ["D018382"], "omim": ["274300"], "orphanet": ["3221"], "synonyms": ["Alternative titles", "GTHR", "THYROID HORMONE UNRESPONSIVENESS", "REFETOFF SYNDROME"]} |
Homocystinuria due to CBS deficiency is an inherited disorder in which the body is unable to correctly use the amino acid, homocysteine, one of the building blocks of protein. This form of homocystinuria is caused by a genetic mutation in the CBS gene, which leads to low levels or absence of an enzyme called cystathi... | Homocystinuria due to CBS deficiency | c0751202 | 4,376 | gard | https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency | 2021-01-18T17:59:59 | {"mesh": ["D006712"], "omim": ["236200"], "umls": ["C0751202"], "orphanet": ["394"], "synonyms": ["Homocystinuria due to cystathionine beta-synthase deficiency", "Cystathionine beta-synthase deficiency", "CBS deficiency", "Classic homocystinuria"]} |
A number sign (#) is used with this entry because myoclonic epilepsy of Lafora, also known as progressive myoclonic epilepsy-2 (EPM2), can be caused by mutation in the laforin (EPM2A; 607566) gene on chromosome 6q24 or the malin gene (NHLRC1; 608072) on chromosome 6p22.
Description
The Lafora type of progressive my... | MYOCLONIC EPILEPSY OF LAFORA | c0751783 | 4,377 | omim | https://www.omim.org/entry/254780 | 2019-09-22T16:24:39 | {"doid": ["3534"], "mesh": ["D020192"], "omim": ["254780"], "orphanet": ["501"], "synonyms": ["Alternative titles", "MELF", "LAFORA DISEASE", "LAFORA BODY DISEASE", "EPILEPSY, PROGRESSIVE MYOCLONIC, 2A", "EPM2"], "genereviews": ["NBK1389"]} |
A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome spondylodysplastic type 3 (EDSSPD3) is caused by homozygous mutation in the zinc transporter gene SLC39A13 (608735) on chromosome 11p11.
Description
Ehlers-Danlos syndrome spondylodysplastic type 3 is characterized by short st... | EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | c2676510 | 4,378 | omim | https://www.omim.org/entry/612350 | 2019-09-22T16:01:47 | {"mesh": ["C567340"], "omim": ["612350"], "orphanet": ["157965"], "synonyms": ["Alternative titles", "SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE"]} |
Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This... | Myelomeningocele | c0025312 | 4,379 | gard | https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele | 2021-01-18T17:58:50 | {"mesh": ["D008591"], "umls": ["C0025312"], "synonyms": ["Meningomyelocele"]} |
## Description
Yellow nail syndrome (YNS) is classically considered to comprise a clinical triad of yellow nails, lymphedema, and respiratory tract involvement. Two of these symptoms are required for the diagnosis, since the complete triad is only observed in about one-third of patients. Onset is usually after pube... | YELLOW NAIL SYNDROME | c0221348 | 4,380 | omim | https://www.omim.org/entry/153300 | 2019-09-22T16:38:44 | {"doid": ["0050468"], "mesh": ["D056684"], "omim": ["153300"], "icd-10": ["L60.5"], "orphanet": ["662"], "synonyms": ["Alternative titles", "YNS", "LYMPHEDEMA AND YELLOW NAILS"]} |
## Clinical Features
Smith et al. (2008) reported 3 sibs, 2 boys and a girl, with a similar syndrome comprising hypotonia, seizures, and dysmorphic features. Two of the children had precocious puberty. At birth, all had severe hypotonia and abnormal facial features including brachycephaly, plagiocephaly, and promin... | HYPOTONIA, SEIZURES, AND PRECOCIOUS PUBERTY | c2748586 | 4,381 | omim | https://www.omim.org/entry/612777 | 2019-09-22T16:00:39 | {"mesh": ["C567566"], "omim": ["612777"]} |
Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even within the same family.
People with Woodhouse-... | Woodhouse-Sakati syndrome | c0342286 | 4,382 | medlineplus | https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/ | 2021-01-27T08:25:36 | {"gard": ["5592"], "mesh": ["C536742"], "omim": ["241080"], "synonyms": []} |
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Duct ectasia of breast
One of the symptoms of mammary duct ectasia is in... | Duct ectasia of breast | c0152442 | 4,383 | wikipedia | https://en.wikipedia.org/wiki/Duct_ectasia_of_breast | 2021-01-18T18:58:30 | {"umls": ["C0152442"], "icd-9": ["610.4"], "icd-10": ["N60.4"], "wikidata": ["Q3718771"]} |
## Summary
### Clinical characteristics.
X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), part of the spectrum of PRPS1-related disorders, is characterized by peripheral neuropathy, early-onset (prelingual) bilateral profound sensorineural hearing loss, and optic neuropathy. The onset of peripheral neuro... | Charcot-Marie-Tooth Neuropathy X Type 5 | c1839566 | 4,384 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1876/ | 2021-01-18T21:35:18 | {"mesh": ["C537129"], "synonyms": ["CMTX5", "Rosenberg-Chutorian Syndrome"]} |
Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related di... | Werner syndrome | c0043119 | 4,385 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=902 | 2021-01-23T18:11:28 | {"gard": ["7885"], "mesh": ["D014898"], "omim": ["277700"], "umls": ["C0043119"], "icd-10": ["E34.8"], "synonyms": ["Adult progeria", "WS"]} |
Lichen planopilaris (LPP) affects the scalp and hair. It is a form of lichen planus, an inflammatory condition affecting the skin and mucous membranes. Symptoms may include scaly skin and redness around hair follicles, bald patches, and pain, burning, or itching on the scalp. Tiny, red bumps (papules) may appear arou... | Lichen planopilaris | c0023645 | 4,386 | gard | https://rarediseases.info.nih.gov/diseases/3247/lichen-planopilaris | 2021-01-18T17:59:25 | {"mesh": ["C535892"], "umls": ["C0023645"], "orphanet": ["525"], "synonyms": ["Follicular lichen planus", "Frontal fibrosing alopecia (subtype)", "Kossard disease", "Lichen planopilaris classic type", "LPP", "Lichen planus follicularis", "Lichen follicularis"]} |
CLPB deficiency is a rare disorder characterized by neurological problems and a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and their severity varies widely among affected individuals.
In the most severely affected individuals, featu... | CLPB deficiency | c4225393 | 4,387 | medlineplus | https://medlineplus.gov/genetics/condition/clpb-deficiency/ | 2021-01-27T08:25:30 | {"omim": ["616271"], "synonyms": []} |
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
## Epidemiology
The specific prevalence of type A pyruvate carboxylase deficiency is not known but it has been reported m... | Pyruvate carboxylase deficiency, infantile type | c0034341 | 4,388 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353308 | 2021-01-23T16:52:44 | {"mesh": ["D015324"], "omim": ["266150"], "icd-10": ["E74.4"], "synonyms": ["Pyruvate carboxylase deficiency type A"]} |
A number sign (#) is used with this entry because of evidence that platelet-type bleeding disorder-19 (BDPLT19) is caused by homozygous mutation in the PRKACG gene (176893) on chromosome 9q21. One such family has been reported.
Clinical Features
Manchev et al. (2014) reported a brother and sister, born of consangui... | BLEEDING DISORDER, PLATELET-TYPE, 19 | c4015405 | 4,389 | omim | https://www.omim.org/entry/616176 | 2019-09-22T15:49:44 | {"doid": ["0111048"], "omim": ["616176"], "orphanet": ["438207"], "synonyms": []} |
Acute myeloblastic leukemia with maturation
Myeloblast
SpecialtyHematology, oncology
Acute myeloblastic leukemia with maturation (M2) is a subtype of acute myeloid leukemia (AML).[1]
Acute myeloid leukemia (AML) is a type of cancer affecting blood cells that eventually develop into non-lymphocyte white bloo... | Acute myeloblastic leukemia with maturation | c1879321 | 4,390 | wikipedia | https://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation | 2021-01-18T18:32:27 | {"gard": ["527"], "mesh": ["D015470"], "umls": ["C1879321"], "orphanet": ["98834"], "wikidata": ["Q4677940"]} |
Vasculitis
Other namesVasculitides[1]
Petechia and purpura on the lower limb due to medication-induced vasculitis.
Pronunciation
* /væskjʊˈlaɪtɪs/
SpecialtyRheumatology
SymptomsWeight loss, fever, myalgia, purpura
ComplicationsGangrene, Myocardial infarction
Vasculitis is a group of disor... | Vasculitis | c0042384 | 4,391 | wikipedia | https://en.wikipedia.org/wiki/Vasculitis | 2021-01-18T18:44:44 | {"gard": ["9565"], "mesh": ["D014657"], "umls": ["C0042384"], "icd-9": ["447.6", "446"], "icd-10": ["M31", "I80", "L95", "I77.6", "M30"], "orphanet": ["52759"], "wikidata": ["Q644318"]} |
Difficulty controlling the mouth or throat for swallowing
Oropharyngeal dysphagia
SpecialtyGastroenterology, ENT surgery
Oropharyngeal dysphagia arises from abnormalities of muscles, nerves or structures of the oral cavity, pharynx, and upper esophageal sphincter.
## Contents
* 1 Signs and symptoms
... | Oropharyngeal dysphagia | c0267071 | 4,392 | wikipedia | https://en.wikipedia.org/wiki/Oropharyngeal_dysphagia | 2021-01-18T18:56:29 | {"mesh": ["D003680"], "icd-9": ["787.22"], "icd-10": ["R13"], "wikidata": ["Q3533214"]} |
Prominent inferior labial artery is characterized by the appearance of a pulsating papule in the lower vermilion, a centimeter of two from the oral comissure, formed by an especially tortuous segment of the inferior labial artery.[1]
## See also[edit]
* Skin lesion
## References[edit]
1. ^ James, William;... | Prominent inferior labial artery | c4073264 | 4,393 | wikipedia | https://en.wikipedia.org/wiki/Prominent_inferior_labial_artery | 2021-01-18T18:30:22 | {"umls": ["C4073264"], "wikidata": ["Q7249750"]} |
## Clinical Features
Smith (1939) described a sibship of 8 children, 4 of whom had total deafness in one or the other ear. The tympanic membranes were normal. Labyrinthine testing was normal. There was no history of consanguinity, mumps, or syphilis. The mother, her father, and her sister also had unilateral de... | DEAFNESS, UNILATERAL | c2607947 | 4,394 | omim | https://www.omim.org/entry/125000 | 2019-09-22T16:42:33 | {"mesh": ["D046088"], "omim": ["125000"]} |
Micrograph showing lymphovascular invasion (top of image) in a case of laryngeal cancer. H&E stain.
Lymphovascular invasion (LVI or lymphovascular space invasion) is the invasion of a cancer to the blood vessels and/or lymphatics.
## Contents
* 1 Terminology
* 2 Pathology
* 3 Prognostic significance
* 3.... | Lymphovascular invasion | c1708790 | 4,395 | wikipedia | https://en.wikipedia.org/wiki/Lymphovascular_invasion | 2021-01-18T18:53:44 | {"umls": ["C1708790"], "wikidata": ["Q6708283"]} |
## Description
Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset oc... | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1 | c1838604 | 4,396 | omim | https://www.omim.org/entry/600131 | 2019-09-22T16:16:34 | {"omim": ["600131"], "orphanet": ["64280"], "synonyms": ["Pyknolepsy"]} |
Post-vacation blues
Other namesPost-holiday blues
SymptomsTiredness, loss of appetite, nostalgia, depression
CausesReturning home or to a normal routine from a long vacation
TreatmentTime
Frequency57% of travellers
Post-vacation blues (Canada and US), post-holiday blues (UK, Ireland and some Commonweal... | Post-vacation blues | None | 4,397 | wikipedia | https://en.wikipedia.org/wiki/Post-vacation_blues | 2021-01-18T18:47:55 | {"wikidata": ["Q5488618"]} |
Ischemic monomelic neuropathy is a rare, immediate, limb-threatening complication of hemodialysis access surgery.[1][2]
Symptoms are acute hand pain and forearm muscle weakness. The major risk factors are the presence of diabetes mellitus, and the creation of a brachial artery-to-cephalic vein fistula as the vascula... | Ischemic monomelic neuropathy | None | 4,398 | wikipedia | https://en.wikipedia.org/wiki/Ischemic_monomelic_neuropathy | 2021-01-18T19:04:30 | {"wikidata": ["Q85770088"]} |
Viral encephalitis
SpecialtyInfectious disease
Viral encephalitis is inflammation of the brain parenchyma, called encephalitis, by a virus. The different forms of viral encephalitis are called viral encephalitides. It is the most common type of encephalitis and often occurs with viral meningitis. Encephali... | Viral encephalitis | c0014055 | 4,399 | wikipedia | https://en.wikipedia.org/wiki/Viral_encephalitis | 2021-01-18T19:02:44 | {"mesh": ["D018792", "D004671"], "umls": ["C0014055"], "icd-9": ["062", "064"], "wikidata": ["Q3053951"]} |
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