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Cholestasis-pigmentary retinopathy-cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric inse... | Cholestasis-pigmentary retinopathy-cleft palate syndrome | c0795969 | 30,400 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1415 | 2021-01-23T18:31:09 | {"gard": ["9280"], "mesh": ["C535632"], "omim": ["612726"], "umls": ["C0795969"], "synonyms": ["Hardikar syndrome"]} |
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This article needs attention ... | HIV/AIDS in Asia | None | 30,401 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Asia | 2021-01-18T18:55:35 | {"wikidata": ["Q5629818"]} |
For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A (231300).
Mapping
Sarfarazi et al. (1995) mapped a locus for primary congenital glaucoma (designated GLC3A; 231300) to 2p21. Six of 17 families, however, failed to show linkage to the 2p21 region. Akarsu et al.... | GLAUCOMA 3, PRIMARY INFANTILE, B | c0020302 | 30,402 | omim | https://www.omim.org/entry/600975 | 2019-09-22T16:15:36 | {"mesh": ["D006871"], "omim": ["600975"], "orphanet": ["98976"], "synonyms": ["Alternative titles", "GLAUCOMA, PRIMARY CONGENITAL, TYPE B", "GLC3, TYPE B"], "genereviews": ["NBK1135"]} |
Not to be confused with Desensitization (psychology).
Hypoesthesia
Other namesNumbness, hypesthesia
SpecialtyPsychiatry, Neurology
Hypoesthesia or numbness is a common side effect of various medical conditions which manifests as a reduced sense of touch or sensation, or a partial loss of sensitivity to sens... | Hypoesthesia | c0020580 | 30,403 | wikipedia | https://en.wikipedia.org/wiki/Hypoesthesia | 2021-01-18T18:40:57 | {"mesh": ["D006987"], "umls": ["C0020580"], "icd-9": ["782.0"], "icd-10": ["R20.1"], "wikidata": ["Q1641556"]} |
Metaplastic carcinoma, otherwise known as metaplastic carcinoma of the breast (MCB), is a heterogeneous group of cancers that exhibit varied patterns of metaplasia and differentiation along multiple cell lines. This rare and aggressive form of breast cancer is characterized as being composed of a mixed group of n... | Metaplastic carcinoma | c1266089 | 30,404 | wikipedia | https://en.wikipedia.org/wiki/Metaplastic_carcinoma | 2021-01-18T18:59:35 | {"umls": ["C1266089"], "wikidata": ["Q6823150"]} |
Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of majo... | Salivary gland cancer, adult | None | 30,405 | gard | https://rarediseases.info.nih.gov/diseases/9377/salivary-gland-cancer-adult | 2021-01-18T17:57:50 | {"synonyms": []} |
A number sign (#) is used with this entry because this form of autosomal recessive osteogenesis imperfecta (OI8) is caused by homozygous or compound heterozygous mutation in the LEPRE1 gene (P3H3; 610339) on chromosome 1p32.
Description
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by b... | OSTEOGENESIS IMPERFECTA, TYPE VIII | c0268362 | 30,406 | omim | https://www.omim.org/entry/610915 | 2019-09-22T16:03:55 | {"doid": ["0110336"], "mesh": ["C536044"], "omim": ["610915"], "orphanet": ["216812", "216804", "666"], "synonyms": ["Alternative titles", "OI, TYPE VIII"]} |
Muscular dystrophy
In affected muscle (right), the tissue has become disorganized and the concentration of dystrophin (green) is greatly reduced, compared to normal muscle (left).
SpecialtyPediatrics, medical genetics
SymptomsIncreasing weakening, breakdown of skeletal muscles, trouble walking[1][2]
DurationL... | Muscular dystrophy | c0026850 | 30,407 | wikipedia | https://en.wikipedia.org/wiki/Muscular_dystrophy | 2021-01-18T18:59:43 | {"gard": ["7922"], "mesh": ["D009136"], "umls": ["C0026850", "C1864711"], "orphanet": ["98473"], "wikidata": ["Q1137767"]} |
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
## Epidemiology
The prevalence is unknown but less than 100 patients have been reported in the literature so far.
... | Arthrogryposis-renal dysfunction-cholestasis syndrome | c1859722 | 30,408 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2697 | 2021-01-23T17:20:19 | {"gard": ["794"], "mesh": ["C535382"], "omim": ["208085", "613404"], "umls": ["C1859722"], "icd-10": ["Q89.7"], "synonyms": ["ARC syndrome"]} |
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal boss... | Distal trisomy 6q | c0795817 | 30,409 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96098 | 2021-01-23T18:15:12 | {"mesh": ["C537810"], "umls": ["C0795817"], "icd-10": ["Q92.3"], "synonyms": ["Distal duplication 6q", "Telomeric duplication 6q", "Trisomy 6qter"]} |
A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
## Epidemiology
Exact prevalence and incidence rates for Noonan syndrome with multiple lentigines (NSML) are not known. About 300 cases have been d... | Noonan syndrome with multiple lentigines | c0175704 | 30,410 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=500 | 2021-01-23T18:49:44 | {"gard": ["1100"], "mesh": ["C537116", "D044542"], "omim": ["151100", "611554", "613707"], "umls": ["C0175704", "C2931424"], "icd-10": ["Q87.1"], "synonyms": ["Cardiomyopathic lentiginosis", "Familial multiple lentigines syndrome", "LEOPARD syndrome"]} |
Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndro... | Weissenbacher-Zweymüller syndrome | c1848488 | 30,411 | medlineplus | https://medlineplus.gov/genetics/condition/weissenbacher-zweymuller-syndrome/ | 2021-01-27T08:24:49 | {"gard": ["4351"], "mesh": ["C535776"], "omim": ["184840"], "synonyms": []} |
Lobular carcinoma
Micrograph of lobular carcinoma. H&E stain.
Lobular carcinoma is a form of tumor which primarily affects the lobules of a gland.
It is sometimes considered equivalent to "terminal duct carcinoma".[1]
If not otherwise specified, it generally refers to breast cancer. Examples include:
* Lo... | Lobular carcinoma | c0206692 | 30,412 | wikipedia | https://en.wikipedia.org/wiki/Lobular_carcinoma | 2021-01-18T18:45:01 | {"mesh": ["D018275"], "wikidata": ["Q6663895"]} |
A number sign (#) is used with this entry because C4A deficiency is caused by mutation in the C4A gene (120810).
Clinical Features
Partial deficiency of C4 was found in 3 persons during a screening of 42,000 healthy Japanese (Torisu et al., 1970).
Of 26 patients with autoimmune chronic active hepatitis beginni... | COMPLEMENT COMPONENT 4A DEFICIENCY | c3280642 | 30,413 | omim | https://www.omim.org/entry/614380 | 2019-09-22T15:55:27 | {"doid": ["0060297"], "mesh": ["C565167"], "omim": ["614380"], "orphanet": ["169147"], "synonyms": ["Immunodeficiency due to C1, C4, or C2 component complement deficiency", "Alternative titles", "C4A DEFICIENCY", "Immunodeficiency due to an early component of complement deficiency"]} |
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the... | Polydactyly-myopia syndrome | c1868117 | 30,414 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2917 | 2021-01-23T17:04:55 | {"gard": ["4413"], "mesh": ["C536331"], "omim": ["174310"], "umls": ["C1868117"], "icd-10": ["Q87.2"], "synonyms": ["Czeizel-Brooser syndrome"]} |
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteri... | Curry-Jones syndrome | c0795915 | 30,415 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1553 | 2021-01-23T16:58:01 | {"gard": ["5584"], "mesh": ["C536735"], "omim": ["601707"], "icd-10": ["Q87.0"], "synonyms": ["Corpus callosum agenesis-polysyndactyly syndrome"]} |
A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (s... | Squamous cell carcinoma of the oral cavity | c1168401 | 30,416 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=502363 | 2021-01-23T16:56:55 | {"mesh": ["D000077195"], "omim": ["275355"]} |
Lee et al. (1977) described 2 brothers with cutaneous angiolipomas and retroperitoneal chemodectomas. Both died of malignant dissemination of the chemodectomas. Two other brothers died of tumors before age 45, and one of them also had skin lumps. Thus, they may have been affected also. See paragangliomata (168000).
... | CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS | c2930928 | 30,417 | omim | https://www.omim.org/entry/118350 | 2019-09-22T16:43:22 | {"mesh": ["C535552"], "omim": ["118350"]} |
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome IV (OFD4) can be caused by homozygous or compound heterozygous mutation in the TCTN3 gene (613847) on chromosome 10q24.
Mutation in TCTN3 can also cause a form of Joubert syndrome (JBTS18; 614815).
Clinical Features
Baraits... | OROFACIODIGITAL SYNDROME IV | c0406727 | 30,418 | omim | https://www.omim.org/entry/258860 | 2019-09-22T16:24:03 | {"doid": ["0060374"], "mesh": ["C537133"], "omim": ["258860"], "orphanet": ["2753"], "synonyms": ["Alternative titles", "OFDS IV", "ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV", "OFD SYNDROME WITH TIBIAL DEFECTS", "MOHR-MAJEWSKI SYNDROME", "OFD SYNDROME, BARAITSER-BURN TYPE", "BARAITSER-BURN SYNDROME"]} |
A number sign (#) is used with this entry because inosine triphosphatase deficiency is caused by heterozygous, homozygous, or compound heterozygous mutation in the ITPA gene (147520) on chromosome 20p13.
Description
Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition charac... | INOSINE TRIPHOSPHATASE DEFICIENCY | c0342800 | 30,419 | omim | https://www.omim.org/entry/613850 | 2019-09-22T15:57:14 | {"mesh": ["C564127"], "omim": ["613850"], "synonyms": ["Alternative titles", "INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY"]} |
TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).
The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK... | TK2-related mitochondrial DNA depletion syndrome, myopathic form | c3149750 | 30,420 | medlineplus | https://medlineplus.gov/genetics/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form/ | 2021-01-27T08:24:38 | {"omim": ["609560"], "synonyms": []} |
Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.
## Epidemiology
The exact incidence is unknown.
## Clin... | Spirillary rat-bite fever | c0152062 | 30,421 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99903 | 2021-01-23T17:03:49 | {"mesh": ["D011906"], "umls": ["C0152062"], "icd-10": ["A25.0"], "synonyms": ["Sodoku"]} |
Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.
## Epidemiology
This syndrome has been described in five members from three generations of one family.
## Genetic counseling
Inhertitance is thought to be autosomal do... | Spondylocamptodactyly syndrome | c1838781 | 30,422 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3180 | 2021-01-23T16:59:16 | {"gard": ["4972"], "mesh": ["C535779"], "omim": ["600000"], "umls": ["C1838781"], "icd-10": ["Q87.5"]} |
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
## Epidemiology
Primary ciliary dyskinesia (PCD) has an esti... | Primary ciliary dyskinesia | c0340038 | 30,423 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=244 | 2021-01-23T17:20:20 | {"gard": ["4484"], "mesh": ["C562757"], "omim": ["215518", "215520", "242670", "242680", "244400", "300991", "606763", "608644", "608646", "608647", "610852", "611884", "612274", "612444", "612518", "612649", "612650", "613193", "613807", "613808", "614017", "614679", "614874", "614935", "615067", "615294", "615444", "... |
Stafford (1961), using the identical blocks test as a measure of spatial visualization, studied 104 fathers and mothers and their 58 teenage sons and 70 daughters. Males showed higher average scores than females in both the parental and offspring group. No correlation of scores existed between fathers and mothers and... | SPATIAL VISUALIZATION, APTITUDE FOR | c1839263 | 30,424 | omim | https://www.omim.org/entry/313000 | 2019-09-22T16:17:14 | {"mesh": ["C564058"], "omim": ["313000"], "synonyms": ["Alternative titles", "VISUOSPATIAL/PERCEPTUAL ABILITIES"]} |
A number sign (#) is used with this entry because it does not represent a single gene locus.
Many of these blood groups have been found only in a single family. They include Levay, Jobbins, Becker, Ven, Cavaliere, Berrens, Wright, Batty, Romunde, Chr, Swann (601550), Good, Bi, Froese (601551), and Tr. The relation, ... | BLOOD GROUP--PRIVATE SYSTEMS | None | 30,425 | omim | https://www.omim.org/entry/111500 | 2019-09-22T16:44:12 | {"omim": ["111500"], "synonyms": ["Alternative titles", "ANTIGENIC DETERMINANTS OF LOW FREQUENCY IN THE POPULATION"]} |
Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This... | Short stature-valvular heart disease-characteristic facies syndrome | c1852073 | 30,426 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2868 | 2021-01-23T17:07:04 | {"mesh": ["C565094"], "omim": ["126190"], "icd-10": ["Q87.1"]} |
Caseous lymphadenitis
Other namesThin ewe syndrome
SpecialtyVeterinary medicine
SymptomsPus-filled abscesses in lymph nodes and internal organs, weight loss
CausesCorynebacterium pseudotuberculosis
TreatmentDrainage of abscesses, chemical cauterization, removal of external lymph nodes, antibiotics
Case... | Caseous lymphadenitis | c0275691 | 30,427 | wikipedia | https://en.wikipedia.org/wiki/Caseous_lymphadenitis | 2021-01-18T18:37:00 | {"wikidata": ["Q655816"]} |
Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements ... | Peters anomaly | c4310809 | 30,428 | medlineplus | https://medlineplus.gov/genetics/condition/peters-anomaly/ | 2021-01-27T08:24:56 | {"gard": ["7377"], "omim": ["604229"], "synonyms": []} |
Phyllodes tumors of the breast are rare tumors that start in the connective (stromal) tissue of the breast. They get their name from the leaf-like pattern in which they grow (phyllodes means leaf-like in Greek). They are most common in women in their 30s and 40s, although women of any age can be affected. These tumor... | Phyllodes tumor of the breast | c0010701 | 30,429 | gard | https://rarediseases.info.nih.gov/diseases/9514/phyllodes-tumor-of-the-breast | 2021-01-18T17:58:20 | {"mesh": ["D003557"], "orphanet": ["180261"], "synonyms": ["Phyllodes breast tumor", "Cystosarcoma phyllodes of the breast", "Cystosarcoma phyllodes", "Phylloides tumor"]} |
"Prinzmetal" redirects here. For the cardiologist, see Myron Prinzmetal.
Variant angina
Other namesPrinzmetal's angina, Prinzmetal angina [1]
Illustration depicting angina
SpecialtyCardiology
Variant angina, and less commonly Prinzmetal angina, vasospastic angina, angina inversa, coronary vessel spasm, or... | Variant angina | c0002963 | 30,430 | wikipedia | https://en.wikipedia.org/wiki/Variant_angina | 2021-01-18T18:59:52 | {"gard": ["7465"], "mesh": ["D000788"], "icd-9": ["413.1"], "icd-10": ["I20.1"], "wikidata": ["Q1469637"]} |
A number sign (#) is used with this entry because dilated cardiomyopathy-1S (CMD1S) is caused by heterozygous mutation in the MYH7 gene (160760) on chromosome 14q12.
Mutation in the MYH7 gene has also been associated with left ventricular noncompaction (LVNC5), hypertrophic cardiomyopathy (CMH1; 192600), and myo... | CARDIOMYOPATHY, DILATED, 1S | c0340427 | 30,431 | omim | https://www.omim.org/entry/613426 | 2019-09-22T15:58:44 | {"doid": ["0110454"], "mesh": ["C536231"], "omim": ["613426"], "orphanet": ["154", "54260"]} |
## Clinical Features
Kohlschutter et al. (1982) reported a case of partial alpha-ketoglutarate dehydrogenase deficiency in 2 sibs of a consanguineous Tunisian family. In addition to genetic defects of the tricarboxylic acid cycle, other mechanisms for recessively inherited congenital lactic acidosis include inborn ... | ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY | c2752074 | 30,432 | omim | https://www.omim.org/entry/203740 | 2019-09-22T16:31:12 | {"mesh": ["C536582"], "omim": ["203740"], "orphanet": ["31"], "synonyms": ["Alternative titles", "ALPHA-KGD DEFICIENCY", "2-KETOGLUTARATE DEHYDROGENASE DEFICIENCY", "OXOGLUTARIC ACIDURIA"]} |
Diffusion tensor imaging of the brain showing the right and left arcuate fasciculus (Raf & Laf), the right and left superior longitudinal fasciculus (Rslf & Lslf), and tapetum of corpus callosum (Ta).
Disconnection syndrome is a general term for a collection of neurological symptoms caused -- via lesions to associat... | Disconnection syndrome | None | 30,433 | wikipedia | https://en.wikipedia.org/wiki/Disconnection_syndrome | 2021-01-18T19:08:53 | {"wikidata": ["Q17144277"]} |
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
## Epidemiology
The worldwide prevalence at birth is estimated at 1/4,500-1/10,000.
## Clinical descriptio... | 22q11.2 deletion syndrome | c0012236 | 30,434 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=567 | 2021-01-23T19:10:05 | {"gard": ["10299"], "mesh": ["D004062", "D058165"], "omim": ["188400", "192430"], "umls": ["C0012236", "C0220704", "C0431406", "C0795907", "C2936346", "C3266101"], "icd-10": ["D82.1"], "synonyms": ["22q11DS", "CATCH 22", "Cayler cardiofacial syndrome", "Conotruncal anomaly face syndrome", "DiGeorge sequence", "DiGeorge... |
A number sign (#) is used with this entry because of evidence that Sturge-Weber syndrome can be caused by somatic mosaic mutation in the GNAQ gene (600998) on chromosome 9q21.
Nonsyndromic port-wine stains (CMC; 163000) are also caused by somatic mosaic mutation in the GNAQ gene.
Description
Sturge-Weber syndrome ... | STURGE-WEBER SYNDROME | c0038505 | 30,435 | omim | https://www.omim.org/entry/185300 | 2019-09-22T16:34:05 | {"mesh": ["D013341"], "omim": ["185300"], "icd-10": ["Q85.8"], "orphanet": ["3205"]} |
Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various musc... | Chorea-acanthocytosis | c0393576 | 30,436 | gard | https://rarediseases.info.nih.gov/diseases/3956/chorea-acanthocytosis | 2021-01-18T18:01:27 | {"mesh": ["D054546"], "omim": ["200150"], "umls": ["C0393576"], "orphanet": ["2388"], "synonyms": ["Acanthocytosis with neurologic disorder", "ChAc", "Choreoacanthocytosis", "Chorea acanthocytosis"]} |
Particular type of attention disorder
Sluggish cognitive tempo
SpecialtyPsychology
Sluggish cognitive tempo (SCT) is a syndrome related to attention deficit hyperactivity disorder (ADHD) but distinct from it. Typical symptoms include prominent dreaminess, mental fogginess, hypoactivity, sluggishness, staring ... | Sluggish cognitive tempo | None | 30,437 | wikipedia | https://en.wikipedia.org/wiki/Sluggish_cognitive_tempo | 2021-01-18T18:41:24 | {"wikidata": ["Q519681"]} |
A number sign (#) is used with this entry because of evidence that spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is caused by homozygous mutation in the KLC2 gene (611729) on chromosome 11q13.2.
Description
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodege... | SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY | c1836010 | 30,438 | omim | https://www.omim.org/entry/609541 | 2019-09-22T16:06:00 | {"doid": ["0060491"], "mesh": ["C563702"], "omim": ["609541"], "orphanet": ["320406"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-115 (DFNB115) is caused by compound heterozygous mutation in the SPNS2 gene (612584) on chromosome 17p13. One such patient has been reported.
Description
DFNB115 is characterized by severe sensorineural hearing impairmen... | DEAFNESS, AUTOSOMAL RECESSIVE 115 | None | 30,439 | omim | https://www.omim.org/entry/618457 | 2019-09-22T15:41:51 | {"omim": ["618457"]} |
Medical condition
For epileptic seizures, see Seizure. For other uses, see Seizure (disambiguation).
Non-epileptic seizure
Other namesPseudoseizure, nonepileptic event, nonepileptic episodic event
TypesPhysiological, psychological[1]
Non-epileptic seizures (NES), also known as non-epileptic events, are par... | Non-epileptic seizure | c3495874 | 30,440 | wikipedia | https://en.wikipedia.org/wiki/Non-epileptic_seizure | 2021-01-18T18:42:15 | {"mesh": ["D012640"], "umls": ["C3495874"], "wikidata": ["Q7048905"]} |
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. ... | Tetrasomy 18p | c0795868 | 30,441 | medlineplus | https://medlineplus.gov/genetics/condition/tetrasomy-18p/ | 2021-01-27T08:25:40 | {"gard": ["35"], "mesh": ["C538306"], "omim": ["614290"], "synonyms": []} |
Trilateral retinoblastoma
Other namesTRb
SpecialtyOncology
Trilateral retinoblastoma is a malignant midline primitive neuroectodermal tumor occurring in patients with inherited uni- or bilateral retinoblastoma. In most cases trilateral retinoblastoma presents itself as pineoblastoma (pineal TRb). In about a ... | Trilateral retinoblastoma | c2608045 | 30,442 | wikipedia | https://en.wikipedia.org/wiki/Trilateral_retinoblastoma | 2021-01-18T18:35:12 | {"umls": ["C2608045"], "wikidata": ["Q18394840"]} |
Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers. Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood... | Blue diaper syndrome | c0268478 | 30,443 | gard | https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome | 2021-01-18T18:01:45 | {"mesh": ["C536239"], "omim": ["211000"], "umls": ["C0268478"], "orphanet": ["94086"], "synonyms": ["Hypercalcemia, familial, with nephrocalcinosis and indicanuria"]} |
Langer et al. (1983) reported a single case of a Japanese infant who died in the newborn period of cardiac and renal failure. X-rays showed bizarre deformities of the forearm and lower leg. The corneas were clouded and the kidneys enlarged. Renal biopsies showed glomerulocystic kidneys. A noncyanotic cardiac malforma... | BRACHYMESOMELIA-RENAL SYNDROME | c1862084 | 30,444 | omim | https://www.omim.org/entry/113470 | 2019-09-22T16:43:57 | {"mesh": ["C537096"], "omim": ["113470"]} |
For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300).
Mapping
Since migraine is a syndrome instead of a clearly differentiated disease, Anttila et al. (2006) hypothesized that individual clinical components of migraine (i.e., traits such as pulsating pain and... | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10 | c1857752 | 30,445 | omim | https://www.omim.org/entry/610208 | 2019-09-22T16:04:57 | {"omim": ["610208"], "synonyms": ["Alternative titles", "MGR10", "MIGRAINE WITH PULSATION"]} |
Unilateral absence of the pulmonary artery (UAPA) is a heart defect that is present from birth. The pulmonary artery takes blood from the heart to the lungs. In the absence of a pulmonary artery, other blood vessels compensate by supplying blood to the lungs. Pressure can build inside these vessels and lead to heart ... | Unilateral absence of a pulmonary artery | None | 30,446 | gard | https://rarediseases.info.nih.gov/diseases/8741/unilateral-absence-of-a-pulmonary-artery | 2021-01-18T17:57:14 | {"synonyms": ["Isolated unilateral absence of a pulmonary artery", "Isolated UAPA", "Pulmonary artery, isolated unilateral absence of", "Congenital absence of the pulmonary artery"]} |
A number sign (#) is used with this entry because of evidence that X-linked isolated hypospadias-1 (HYSP1) is caused by mutation in the androgen receptor gene (AR; 313700) on chromosome Xq12.
Description
Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe.... | HYPOSPADIAS 1, X-LINKED | c2678098 | 30,447 | omim | https://www.omim.org/entry/300633 | 2019-09-22T16:19:52 | {"doid": ["10892"], "mesh": ["C567482"], "omim": ["300633"], "orphanet": ["95706"], "synonyms": ["Perineal, scrotal or penoscrotal hypospadias"]} |
A number sign (#) is used with this entry because it represents what has historically been considered a gene cluster on chromosome 5q31. The 15 tandemly arranged genes within this cluster, PCDHA1 (606307), PCDHA2 (606308), PCDHA3 (606309), PCDHA4 (606310), PCDHA5 (606311), PCDHA6 (606312), PCDHA7 (606313), PCDHA8 (60... | PROTOCADHERIN-ALPHA GENE CLUSTER | None | 30,448 | omim | https://www.omim.org/entry/604966 | 2019-09-22T16:11:40 | {"omim": ["604966"], "synonyms": ["Alternative titles", "PCDH-ALPHA GENE CLUSTER"]} |
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
## Epidemiology
Prevalence of this form of corneal dyst... | Epithelial recurrent erosion dystrophy | c1852551 | 30,449 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293381 | 2021-01-23T18:41:12 | {"mesh": ["C565155"], "omim": ["122400"], "umls": ["C1852551"], "icd-10": ["H18.5"], "synonyms": ["Dystrophia Helsinglandica", "Dystrophia Smolandiensis", "ERED", "Recurrent hereditary corneal erosions"]} |
## Description
Angiotensin is formed from a precursor, angiotensinogen, which is produced by the liver and found in the alpha-globulin fraction of plasma. The lowering of blood pressure is a stimulus to secretion of renin (179820) by the kidney into the blood. Renin cleaves from angiotensinogen a terminal decapepti... | ANGIOTENSINOGEN | c1862886 | 30,450 | omim | https://www.omim.org/entry/106150 | 2019-09-22T16:45:03 | {"omim": ["106150"], "synonyms": ["Alternative titles", "SERPINA8"]} |
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. (March 2012)
Malarial nephropathy
SpecialtyNephrology
Malarial nephropathy is kidney failure attributed to malarial infection. Among various compli... | Malarial nephropathy | None | 30,451 | wikipedia | https://en.wikipedia.org/wiki/Malarial_nephropathy | 2021-01-18T18:32:35 | {"wikidata": ["Q6741354"]} |
Propulsive gait is a form of gait abnormality.
## Presentation[edit]
Stiff, with head and neck bent.[1]
## Conditions associated with a propulsive gait[edit]
* Carbon monoxide poisoning
* Parkinson's disease[2]
* Manganese Toxicity
## References[edit]
1. ^ Medline Plus
2. ^ Knutsson E (1972). "An anal... | Propulsive gait | c0231694 | 30,452 | wikipedia | https://en.wikipedia.org/wiki/Propulsive_gait | 2021-01-18T18:49:29 | {"mesh": ["D020233"], "wikidata": ["Q7250458"]} |
Abortion in Samoa is only legal if the abortion will save the mother's life or preserve her physical or mental health and only when the gestation period is less than 20 weeks.[1] In Samoa, if an abortion is performed on a woman for any other reason, or if a woman performs a self-induced abortion, the violator is ... | Abortion in Samoa | None | 30,453 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Samoa | 2021-01-18T19:02:34 | {"wikidata": ["Q19568862"]} |
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformit... | Autosomal recessive spastic paraplegia type 76 | c4310800 | 30,454 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=488594 | 2021-01-23T17:00:50 | {"omim": ["616907"], "synonyms": ["SPG76"]} |
Familial myxovascular fibromas present with multiple verrucous papules on the palms and fingers, which on biopsy show focal neovascularization and mucin-like changes in the papillary dermis.[1]:609
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; Elsto... | Familial myxovascular fibromas | None | 30,455 | wikipedia | https://en.wikipedia.org/wiki/Familial_myxovascular_fibromas | 2021-01-18T18:34:01 | {"wikidata": ["Q5432944"]} |
Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically pre... | Squamous cell carcinoma of liver and intrahepatic biliary tract | None | 30,456 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424975 | 2021-01-23T16:57:12 | {"icd-10": ["C22.0", "C22.1"], "synonyms": ["Squamous cell carcinoma of liver and IBT"]} |
Microcytosis
SpecialtyHematology
Microcytosis or microcythemia[1] is a condition in which red blood cells are unusually small as measured by their mean corpuscular volume.[2]
When associated with anemia, it is known as microcytic anemia.
## Contents
* 1 Causes
* 2 Treatment
* 3 See also
* 4 Referenc... | Microcytosis | c0221265 | 30,457 | wikipedia | https://en.wikipedia.org/wiki/Microcytosis | 2021-01-18T19:00:30 | {"umls": ["C0221265"], "wikidata": ["Q1091552"]} |
A rare dendritic cell neoplasm characterized by a proliferation of spindled to ovoid cells with morphological and immunophenotypic features of follicular dendritic cells. Conventional follicular dendritic cell sarcomas are negative for EBV. The tumor arises as a painless, slow-growing mass in lymph nodes (most of... | Follicular dendritic cell sarcoma | c1260325 | 30,458 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86902 | 2021-01-23T18:11:24 | {"mesh": ["D054740"], "umls": ["C1260325"], "icd-10": ["C96.4"]} |
In a sibship of 7 without parental consanguinity, Franceschetti and Gernet (1965) found 4 (3 males, 1 female) with marked microphthalmia diagnosed by ultrasound, with cornea of normal size. Associated ocular features were high-grade hyperopia, macrophakia, retinal degeneration reminiscent of fundus albipunctatus (136... | MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES | c1968637 | 30,459 | omim | https://www.omim.org/entry/251700 | 2019-09-22T16:25:06 | {"mesh": ["C566884"], "omim": ["251700"]} |
Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and ... | Autoimmune pancreatitis | c2609129 | 30,460 | gard | https://rarediseases.info.nih.gov/diseases/10911/autoimmune-pancreatitis | 2021-01-18T18:01:58 | {"orphanet": ["103919"], "synonyms": ["Lymphoplasmocytic sclerosing pancreatitis"]} |
A rare hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic ag... | Autosomal dominant spastic paraplegia type 13 | c1854467 | 30,461 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100994 | 2021-01-23T17:04:14 | {"gard": ["9616"], "mesh": ["C537485"], "omim": ["605280"], "umls": ["C1854467"], "icd-10": ["G11.4"], "synonyms": ["SPG13"]} |
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic ... | Galloway-Mowat syndrome | c0795949 | 30,462 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2065 | 2021-01-23T19:03:59 | {"gard": ["65"], "mesh": ["C537548"], "omim": ["251300", "301006", "617729", "617730", "617731", "618347", "618348", "618349"], "umls": ["C0795949"], "icd-10": ["Q04.3"], "synonyms": ["Galloway syndrome", "Microcephaly-hiatus hernia-nephrotic syndrome", "Nephrosis-neuronal dysmigration syndrome"]} |
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such... | X-linked intellectual disability, Pai type | None | 30,463 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85322 | 2021-01-23T19:11:32 | {"icd-10": ["Q87.8"]} |
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with thi... | Autosomal recessive cerebellar ataxia type 1 | c1853116 | 30,464 | medlineplus | https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1/ | 2021-01-27T08:24:44 | {"mesh": ["C565188"], "omim": ["610743"], "synonyms": []} |
Specific developmental disorder
SpecialtyPsychiatry
Specific developmental disorders (SDD) was a classification of disorders characterized by delayed development in one specific area or areas.[1][2][3][4] Specific developmental disorders were contrasted to pervasive developmental disorders[4] which were charac... | Specific developmental disorder | c0037785 | 30,465 | wikipedia | https://en.wikipedia.org/wiki/Specific_developmental_disorder | 2021-01-18T18:45:11 | {"icd-9": ["315", "307"], "icd-10": ["F80", "F81", "F83"], "wikidata": ["Q7574983"]} |
Human and animal disease
Cowpox virus
Electron micrograph of three Cowpox virus particles
Virus classification
(unranked): Virus
Realm: Varidnaviria
Kingdom: Bamfordvirae
Phylum: Nucleocytoviricota
Class: Pokkesviricetes
Order: Chitovirales
Family: Poxviridae
Genus: Orthopoxvirus
Sp... | Cowpox | c0010232 | 30,466 | wikipedia | https://en.wikipedia.org/wiki/Cowpox | 2021-01-18T18:46:28 | {"mesh": ["D015605"], "umls": ["C0010232"], "wikidata": ["Q1066011"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive nonsyndromic deafness-2 (DFNB2) is caused by homozygous or compound heterozygous mutation in the myosin VIIA gene (MYO7A; 276903) on chromosome 11q13.
Allelic disorders include autosomal dominant deafness-11 (DFNA11; 601317) a... | DEAFNESS, AUTOSOMAL RECESSIVE 2 | c1838701 | 30,467 | omim | https://www.omim.org/entry/600060 | 2019-09-22T16:16:43 | {"doid": ["0110477"], "mesh": ["C564007"], "omim": ["600060"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive non-syndromic neurosensory deafness type DFNB", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2", "Alternative titles", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal rece... |
A rare genetic neurodegenerative disease characterized by early-onset diffuse brain atrophy, growth failure with postnatal microcephaly, developmental delay, regression, profound intellectual disability, hypotonia, muscle weakness and atrophy, intractable seizures, spasticity, and optic atrophy. Patients are usually ... | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | c4310671 | 30,468 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=496641 | 2021-01-23T19:05:50 | {"omim": ["617193"]} |
Dyschromia
SpecialtyDermatology
Dyschromia refers to an alteration of the color of the skin or nails.[1]
"Hyperchromia" can refer to hyperpigmentation,[2] and "hypochromia" can refer to hypopigmentation.[3]
"Dyschromatoses" involve both hyperpigmented and hypopigmented macules.[4]
## See also[edit]
* Alb... | Dyschromia | c0151907 | 30,469 | wikipedia | https://en.wikipedia.org/wiki/Dyschromia | 2021-01-18T18:45:43 | {"icd-9": ["709.0"], "icd-10": ["L81.9"], "wikidata": ["Q1269236"]} |
## Clinical Features
Stevanin et al. (2007) reported a consanguineous Portuguese family in which 3 sibs had slowly progressive complicated spastic paraplegia. The patients were first examined at ages 20 to 24 years but reported onset of difficulty walking at 6 to 7 years of age. Physical examination showed lowe... | SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE | c1970009 | 30,470 | omim | https://www.omim.org/entry/611252 | 2019-09-22T16:03:36 | {"doid": ["0110783"], "mesh": ["C566983"], "omim": ["611252"], "orphanet": ["171622"]} |
MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus ... | MYD88 deficiency | c2677092 | 30,471 | gard | https://rarediseases.info.nih.gov/diseases/12638/myd88-deficiency | 2021-01-18T17:58:51 | {"mesh": ["C567379"], "omim": ["612260"], "orphanet": ["183713"], "synonyms": ["Pyogenic bacterial infections due to MyD88 deficiency", "Bacterial susceptibility due to TLR signaling pathway deficiency"]} |
Parathyroid cancer is a rare cancer that usually affects people in their forties or fifties and occurs in one of the four parathyroid glands. The parathyroid glands are located in the neck and secrete parathyroid hormone, which enhances the release of calcium into the blood.
In about 90 percent of cases, the early s... | Parathyroid cancer | c0687150 | 30,472 | medlineplus | https://medlineplus.gov/genetics/condition/parathyroid-cancer/ | 2021-01-27T08:25:23 | {"gard": ["7329"], "mesh": ["D010282"], "omim": ["608266"], "synonyms": []} |
A rare, acquired, typically benign, bacterial infectious disease caused by Staphylococcus aureus characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremi... | Bullous impetigo | c0021100 | 30,473 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36237 | 2021-01-23T18:27:41 | {"umls": ["C0021100"], "icd-10": ["L01.0"]} |
A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia.
## Epidemiology... | Feingold syndrome type 2 | c3280489 | 30,474 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391646 | 2021-01-23T18:40:17 | {"omim": ["614326"], "icd-10": ["Q87.8"], "synonyms": ["Brachydactyly-short stature-microcephaly syndrome", "Brunner-Winter syndrome type 2", "FGLDS2", "FS2", "MMT type 2", "Microcephaly-digital anomalies-normal intelligence syndrome type 2", "Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type... |
Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.
## Epidemiology
Prevalence of DD-I is reported to be 1/100,000.
## Clinical description
The condition affects both primary and permanent dentition. Signs of the condi... | Dentin dysplasia type I | c0399379 | 30,475 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99789 | 2021-01-23T19:03:18 | {"gard": ["1807"], "mesh": ["C538215"], "umls": ["C0399379"], "icd-10": ["K00.5"], "synonyms": ["DD-I", "DTDP1", "Radicular dentin dysplasia"]} |
A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or repro... | Uterine cervical aplasia and agenesis | None | 30,476 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=180145 | 2021-01-23T17:34:08 | {"icd-10": ["Q51.5"]} |
Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.
*[v]: View this template
*[t]: ... | Deafness-oligodontia syndrome | c1857333 | 30,477 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3230 | 2021-01-23T18:58:12 | {"gard": ["1698"], "mesh": ["C538049"], "omim": ["221740"], "umls": ["C1857333"], "synonyms": ["Hearing loss-oligodontia syndrome"]} |
A number sign (#) is used with this entry because of evidence that congenital anomalies of the kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) is caused by heterozygous mutation in or deletion of the PBX1 gene (176310) on chromosome 1q23.
Some individu... | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY | c4539968 | 30,478 | omim | https://www.omim.org/entry/617641 | 2019-09-22T15:45:17 | {"omim": ["617641"]} |
Heberden's node
Heberden's nodes on the 2nd (index) finger of the right hand
SpecialtyRheumatology
Heberden's nodes are hard or bony swellings that can develop in the distal interphalangeal joints (DIP) (the joints closest to the end of the fingers and toes).[1] They are a sign of osteoarthritis and are caus... | Heberden's node | c0409957 | 30,479 | wikipedia | https://en.wikipedia.org/wiki/Heberden%27s_node | 2021-01-18T19:00:22 | {"umls": ["C0409957", "C0018862"], "icd-9": ["715.04"], "icd-10": ["M15.1"], "wikidata": ["Q1034711"]} |
For a phenotypic description and a discussion of genetic heterogeneity of essential hypertension, see 145500.
Koivukoski et al. (2004) applied the genome-search metaanalysis method (GSMA) to 9 published genomewide scans, 5 of blood pressure (BP) and 4 of hypertension, from Caucasian populations. A weighting fact... | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7 | c1970439 | 30,480 | omim | https://www.omim.org/entry/610948 | 2019-09-22T16:03:53 | {"omim": ["610948"], "synonyms": ["Alternative titles", "HYT7"]} |
Pancreatic acinar metaplasia
Micrograph of a gastro-esophageal junction with pancreatic acinar metaplasia. The esophageal mucosa (stratified squamous epithelium) is seen on the right. The gastric mucosa (simple columnar epithelium) is seen on the left. The metaplastic epithelial is at the junction (center of image)... | Pancreatic acinar metaplasia | None | 30,481 | wikipedia | https://en.wikipedia.org/wiki/Pancreatic_acinar_metaplasia | 2021-01-18T18:29:12 | {"wikidata": ["Q7130404"]} |
Leri Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may pro... | Leri Weill dyschondrosteosis | c0265309 | 30,482 | gard | https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis | 2021-01-18T17:59:27 | {"mesh": ["C537119"], "omim": ["127300"], "orphanet": ["240"], "synonyms": ["LWD", "Dyschondrosteosis", "DCO", "Léri-Weill dyschondrosteosis"]} |
Legionnaires’ disease is a severe type of pneumonia caused by the bacteria Legionella. The species Legionella pneumophila causes most cases, but other species of Legionella can also cause the disease. It is named Legionnaires’ disease because it was first discovered after a pneumonia outbreak among people who attende... | Legionnaires’ disease | c0023240 | 30,483 | gard | https://rarediseases.info.nih.gov/diseases/6876/legionnaires-disease | 2021-01-18T17:59:28 | {"mesh": ["D007876"], "omim": ["608556"], "orphanet": ["549"], "synonyms": ["Legionellosis", "Legionnaires disease"]} |
The term cryptic pregnancy is used by medical professionals to describe a pregnancy that is not recognized by the person who is pregnant until they are in labor or have given birth.[1] The term is also used online for a special form of false pregnancy (pseudocyesis), or delusion of pregnancy, in which a person who ha... | Cryptic pregnancy | None | 30,484 | wikipedia | https://en.wikipedia.org/wiki/Cryptic_pregnancy | 2021-01-18T18:29:15 | {"wikidata": ["Q16953069"]} |
State in which a body lacks enough iron to supply its needs
For other uses, see Iron deficiency (disambiguation).
Iron deficiency
Other namesSideropenia, hypoferremia
Iron in heme
SpecialtyHematology
Iron deficiency, or sideropenia, is the state in which a body lacks enough iron to supply its needs. Iron... | Iron deficiency | c0240066 | 30,485 | wikipedia | https://en.wikipedia.org/wiki/Iron_deficiency | 2021-01-18T18:51:23 | {"umls": ["C0240066"], "icd-9": ["280.9"], "icd-10": ["E61.1"], "wikidata": ["Q1313081"]} |
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhoo... | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | c4706610 | 30,486 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137608 | 2021-01-23T17:14:54 | {"synonyms": ["SOLAMEN syndrome"]} |
Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progre... | Central areolar choroidal dystrophy | c1536451 | 30,487 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75377 | 2021-01-23T19:01:21 | {"gard": ["10049"], "mesh": ["C535358"], "omim": ["215500", "613105", "613144"], "umls": ["C1536451"], "icd-10": ["H31.2"], "synonyms": ["Areolar atrophy of the macula", "CACD", "Central areolar choroidal sclerosis"]} |
Kaplan (1964) claimed that the relative length of the hallux and second toe is simply inherited, long hallux being recessive. In Cleveland Caucasoids the frequency of the dominant and recessive phenotypes was 24% and 76%, respectively. Usually the first toe is longest, although in the Ainu the second toe is said to b... | TOES, RELATIVE LENGTH OF FIRST AND SECOND | c1861059 | 30,488 | omim | https://www.omim.org/entry/189200 | 2019-09-22T16:32:30 | {"omim": ["189200"]} |
Blastocystosis
Blastocystis sp.
SpecialtyInfectious disease
Blastocystosis refers to a medical condition caused by infection with Blastocystis. Blastocystis is a protozoal, single-celled parasite that inhabits the gastrointestinal tracts of humans and other animals. Many different types of Blastocystis exist... | Blastocystosis | c0085313 | 30,489 | wikipedia | https://en.wikipedia.org/wiki/Blastocystosis | 2021-01-18T18:44:35 | {"mesh": ["D016776"], "icd-9": ["007.8"], "wikidata": ["Q4925474"]} |
Disease
Universal angiomatosis (also known as "Generalized telangiectasia") is a bleeding disease that affects the blood vessels of the skin and mucous membranes as well as other parts of the body.[1]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timoth... | Universal angiomatosis | c0473555 | 30,490 | wikipedia | https://en.wikipedia.org/wiki/Universal_angiomatosis | 2021-01-18T18:53:43 | {"mesh": ["C562998"], "umls": ["C0473555"], "wikidata": ["Q7894105"]} |
## Summary
### Clinical characteristics.
Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is... | Achondrogenesis Type 1B | c0265274 | 30,491 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1516/ | 2021-01-18T21:44:04 | {"mesh": ["C536016"], "synonyms": ["ACG1B"]} |
Laminopathy
Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with HGPS, visualized by immunofluorescence - note the irregular and bumpy shape of the laminopathic nuclei[1]
SpecialtyClinical Genetics
SymptomsMuscle weakness, reduced sensation, shortness of breath, syncope
Comp... | Laminopathy | None | 30,492 | wikipedia | https://en.wikipedia.org/wiki/Laminopathy | 2021-01-18T19:01:25 | {"orphanet": ["98301"], "synonyms": [], "wikidata": ["Q3216770"]} |
Entry for Blain from Ephraim Chambers' 1728 Cyclopædia
Blain was an animal disease of unknown etiology that was well known in the eighteenth- and nineteenth centuries. It is unclear whether it is still extant, or what modern disease it corresponds to.
According to Ephraim Chambers' eighteenth-century Cyclopaedi... | Blain (animal disease) | None | 30,493 | wikipedia | https://en.wikipedia.org/wiki/Blain_(animal_disease) | 2021-01-18T18:36:46 | {"wikidata": ["Q4923912"]} |
Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this t... | Ischiovertebral syndrome | None | 30,494 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85200 | 2021-01-23T17:31:05 | {"icd-10": ["Q77.8"], "synonyms": ["Ischiospinal dysostosis", "Ischiovertebral dysplasia"]} |
SAHA syndrome
Other namesDermatological androgenization syndrome
SAHA syndrome, is a medical syndrome characterized by seborrhoea, acne, hirsutism and alopecia, and was first described in 1982.[1] It is frequently associated with polycystic ovary syndrome, cystic mastitis, obesity, and infertility.[2][3]
## S... | SAHA syndrome | None | 30,495 | wikipedia | https://en.wikipedia.org/wiki/SAHA_syndrome | 2021-01-18T18:43:58 | {"wikidata": ["Q7388564"]} |
## Clinical Features
Mustapha et al. (1998) reported a large consanguineous Lebanese family affected with a prelingual profound sensorineural isolated form of deafness.
Mapping
Mustapha et al. (1998) performed linkage analysis in a Lebanese family affected with a prelingual profound sensorineural isolated for... | DEAFNESS, AUTOSOMAL RECESSIVE 14 | c1863613 | 30,496 | omim | https://www.omim.org/entry/603678 | 2019-09-22T16:12:45 | {"doid": ["0110469"], "mesh": ["C566344"], "omim": ["603678"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]} |
A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.
## Epidemiology
To date, around 67 cases have been described in the world literature. Females seem... | Cap polyposis | c4303971 | 30,497 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=160148 | 2021-01-23T18:56:09 | {"icd-10": ["D12.6"], "synonyms": ["Cap inflammatory polyposis", "Eroded polypoid hyperplasia", "Inflammatory myoglandular polyps", "Polypoid prolapsing folds"]} |
CHAPLE Syndrome
SpecialtyMedical genetics
SymptomsGastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, hypogammaglobulinemia, intestinal lymphangiectasia [1,2]
DurationLifelong
CausesGenetic (autosomal recessive)
Diagnostic methodGenetic testing
TreatmentEculizumab
CD55 deficiency, also c... | CD55 deficiency | None | 30,498 | wikipedia | https://en.wikipedia.org/wiki/CD55_deficiency | 2021-01-18T19:06:38 | {"orphanet": ["566175"], "wikidata": ["Q55647681"]} |
Macular hole
Optical coherence tomography (OCT) of a macular hole (right) as compared to a normal macula.
SpecialtyOphthalmology
A macular Hole
A macular hole is a small break in the macula, located in the center of the eye's light-sensitive tissue called the retina.
## Contents
* 1 Symptoms
* 2 Cause... | Macular hole | c0024441 | 30,499 | wikipedia | https://en.wikipedia.org/wiki/Macular_hole | 2021-01-18T19:04:22 | {"mesh": ["D012167"], "umls": ["C0024441"], "icd-9": ["362.54"], "icd-10": ["H35.3"], "wikidata": ["Q1427032"]} |
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