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For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A (231300).
Mapping
In a 5-generation consanguineous Turkish family with PCG unlinked to both congenital glaucoma loci GLC3A and GLC3B (600975), Stoilov and Sarfarazi (2002) used genomewide screening, saturation mapp... | GLAUCOMA 3, PRIMARY CONGENITAL, C | c0020302 | 2,700 | omim | https://www.omim.org/entry/613085 | 2019-09-22T15:59:50 | {"doid": ["0050593"], "mesh": ["D006871"], "omim": ["613085"], "orphanet": ["98976"], "genereviews": ["NBK1135"]} |
Wikipedia does not currently have an article on bathophobia, but our sister project Wiktionary does:
Read the Wiktionary entry on bathophobia
You can also:
* Search for Bathophobia in Wikipedia to check for alternative titles or spellings.
* Start the Bathophobia article, using the Article Wizard if you wis... | Bathophobia | c1389284 | 2,701 | wikipedia | https://en.wikipedia.org/wiki/Bathophobia | 2021-01-18T18:48:01 | {"wikidata": ["Q6898244"]} |
A number sign (#) is used with this entry because of evidence that stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is caused by homozygous mutation in the ADPRHL2 gene (610624) on chromosome 1p34.
Description
Stress-induced childhood-onset neurodegeneration with var... | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | None | 2,702 | omim | https://www.omim.org/entry/618170 | 2019-09-22T15:43:18 | {"omim": ["618170"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-27 (RP27) is caused by heterozygous mutation in the neural retina leucine zipper gene (NRL; 162080) on chromosome 14q11.
One family with a clinical diagnosis of clumped pigment-type retinal degeneration has been reported with com... | RETINITIS PIGMENTOSA 27 | c0035334 | 2,703 | omim | https://www.omim.org/entry/613750 | 2019-09-22T15:57:46 | {"doid": ["0110397"], "mesh": ["D012174"], "omim": ["613750"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-18 (CORD18) is caused by homozygous mutation in the RAB28 gene (612994) on chromosome 4p15.
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970.
Clinical Features... | CONE-ROD DYSTROPHY 18 | c3809299 | 2,704 | omim | https://www.omim.org/entry/615374 | 2019-09-22T15:52:25 | {"doid": ["0111024"], "omim": ["615374", "120970"], "orphanet": ["1872"], "synonyms": []} |
A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins... | Tetragametic chimerism | None | 2,705 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199310 | 2021-01-23T19:09:09 | {"icd-10": ["Q99.0"], "synonyms": ["46,XX/46,XY chimerism"]} |
A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
## Epidemiology
Less than 20 cases have been reported in the literature.
## Clinical description
The fingers are thin with absent knuckles... | Aase-Smith syndrome | c0220686 | 2,706 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=916 | 2021-01-23T19:00:12 | {"gard": ["5642"], "mesh": ["C535332"], "omim": ["147800"], "umls": ["C0220686"], "icd-10": ["Q87.8"], "synonyms": ["Aase-Smith I syndrome", "Hydrocephalus-cleft palate-joint contractures syndrome"]} |
Mast cell sarcoma
SpecialtyOncology
Mast cell sarcoma is an extremely aggressive[1] form of sarcoma made up of neoplastic mast cells. A sarcoma is a tumor made of cells from connective tissue. Mast cell sarcoma is an extremely rare tumor. Only 3 cases are reported so far. Prognosis is extremely poor. People wi... | Mast cell sarcoma | c0036221 | 2,707 | wikipedia | https://en.wikipedia.org/wiki/Mast_cell_sarcoma | 2021-01-18T18:33:02 | {"mesh": ["D012515"], "umls": ["C0036221"], "orphanet": ["66661"], "wikidata": ["Q17119512"]} |
Bulge in the wall of a blood vessel
For other uses, see Aneurysm (disambiguation).
Not to be confused with ebullism or embolism.
aneurysm
Other namesAneurism
Angiography of an aneurysm in a brain artery. The aneurysm is the large bulge in the center of the image.
SpecialtyVascular surgery
An aneurys... | Aneurysm | c0002940 | 2,708 | wikipedia | https://en.wikipedia.org/wiki/Aneurysm | 2021-01-18T18:53:15 | {"mesh": ["D000783"], "icd-9": ["442"], "icd-10": ["I72"], "wikidata": ["Q189389"]} |
1: Total loss of attachment (clinical attachment loss, CAL) is the sum of 2: Gingival recession, and 3: Probing depth
Gingival recession, also known as receding gums, is the exposure in the roots of the teeth caused by a loss of gum tissue and/or retraction of the gingival margin from the crown of the teeth.[1] ... | Gingival recession | c0266916 | 2,709 | wikipedia | https://en.wikipedia.org/wiki/Gingival_recession | 2021-01-18T18:40:05 | {"mesh": ["D005889"], "umls": ["C0266916", "C0017572"], "wikidata": ["Q964920"]} |
Midline cervical cleft
SpecialtyDermatology
Midline cervical clefts are a rare congenital anomaly resulting from incomplete fusion during embryogenesis of the first and second branchial arches in the ventral midline of the neck. The condition presents as a midline cutaneous defect of the anterior neck with... | Midline cervical cleft | c1274890 | 2,710 | wikipedia | https://en.wikipedia.org/wiki/Midline_cervical_cleft | 2021-01-18T18:36:30 | {"umls": ["C1274890"], "orphanet": ["141288"], "wikidata": ["Q6842567"]} |
Autosomal dominant cerebellar ataxia
Other namesAutosomal dominant spinocerebellar ataxia[1]
Autosomal dominant is the manner in which this condition is inherited
SymptomsMulti system involvement[2]
TypesADCS type1, ADCA type 2, ADCA type 3[2]
Diagnostic methodMRI, CT scan[3]
TreatmentAnticonvulsants ... | Autosomal dominant cerebellar ataxia | c4087347 | 2,711 | wikipedia | https://en.wikipedia.org/wiki/Autosomal_dominant_cerebellar_ataxia | 2021-01-18T18:52:42 | {"gard": ["4346"], "orphanet": ["99"], "synonyms": ["ADCA", "Autosomal dominant spinocerebellar ataxia"], "wikidata": ["Q622925"]} |
Silica granuloma
SpecialtyDermatology
Silica granulomas are a skin condition which may be caused by automobile and other types of accidents which produces tattooing of dirt (silicon dioxide) into the skin that then induces the granuloma formation.[1]:46
## See also[edit]
* Granuloma
* Skin lesion
##... | Silica granuloma | c0263621 | 2,712 | wikipedia | https://en.wikipedia.org/wiki/Silica_granuloma | 2021-01-18T18:58:18 | {"umls": ["C0263621"], "icd-10": ["L92.8"], "wikidata": ["Q7514911"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3) is caused by homozygous or compound heterozygous mutation in the COA7 gene (615623) on chromosome 1p32.
Description
Spinocerebellar ataxia with axonal neuropathy-3 (SCAN... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 | None | 2,713 | omim | https://www.omim.org/entry/618387 | 2019-09-22T15:42:12 | {"omim": ["618387"]} |
A number sign (#) is used with this entry because a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.
Description
Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating pol... | GUILLAIN-BARRE SYNDROME, FAMILIAL | c0393819 | 2,714 | omim | https://www.omim.org/entry/139393 | 2019-09-22T16:40:28 | {"doid": ["12842"], "mesh": ["D020277"], "omim": ["139393"], "icd-9": ["357.81"], "icd-10": ["G61.81"], "orphanet": ["98916"], "synonyms": ["AIDP", "POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, ACUTE", "Acute inflammatory polyneuropathy", "GBS, acute inflammatory demyelinating polyradiculoneuropathic form", "Acute idiop... |
Disease in rabbits caused by Myxoma virus
This article is about the disease in rabbits. For the Radiohead song, see Hail to the Thief.
Myxoma virus
Myxoma virus (transmission electron microscope)
Virus classification
(unranked): Virus
Realm: Varidnaviria
Kingdom: Bamfordvirae
Phylum: Nucleocytoviric... | Myxomatosis | c0027152 | 2,715 | wikipedia | https://en.wikipedia.org/wiki/Myxomatosis | 2021-01-18T19:00:21 | {"mesh": ["D009234"], "wikidata": ["Q1342455"]} |
A rare pulmonary condition characterized by accumulation of pus in the pleural cavity, most commonly as a consequence of pneumonia, but also trauma and surgical procedures. Clinical signs and symptoms depend on host factors, as well as the nature of the causative microorganism, among others, and include cough, ch... | Pleural empyema | c0014013 | 2,716 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=449266 | 2021-01-23T17:05:59 | {"mesh": ["D016724"], "umls": ["C0014013"]} |
## Description
Thiemann disease is a rare disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence (Kotevoglu-Senerdem et al., 2003).
Clinical Features
Familial osteoarthropathy of fingers was... | THIEMANN DISEASE | c0264081 | 2,717 | omim | https://www.omim.org/entry/165700 | 2019-09-22T16:37:02 | {"mesh": ["C537144"], "omim": ["165700"], "orphanet": ["3314"], "synonyms": ["THIEMANN EPIPHYSEAL DISEASE", "Osteochondrosis of phalangeal epiphyses", "Alternative titles", "OSTEOARTHROPATHY OF FINGERS, FAMILIAL", "Aseptic necrosis of phalangeal epiphyses", "Osteochondritis of phalangeal epiphyses"]} |
Anterior segment dysgenesis (ASD) refers to a spectrum of disorders that affect the development of the front of the eye (the anterior segment), which includes the cornea, iris, ciliary body, and lens. The specific eye abnormalities (alone or in combination) vary depending on the subtype of ASD and genetic cause, and ... | Anterior segment dysgenesis | c1862839 | 2,718 | gard | https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis | 2021-01-18T18:02:05 | {"mesh": ["C537775"], "omim": ["107250"], "orphanet": ["88632"], "synonyms": ["FOXE3-related ocular disorder", "Familial ocular anterior segment mesenchymal dysgenesis", "ASMD", "Anterior segment dysgenesis", "Anterior segment developmental anomaly", "ASOD", "Anterior segment mesenchymal dysgenesis", "Anterior segment ... |
A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affec... | Microcystic lymphatic malformation | c0334543 | 2,719 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79490 | 2021-01-23T18:56:20 | {"icd-10": ["D18.1"], "synonyms": ["Capillary lymphangioma", "Capillary lymphatic malformation", "Cutaneous lymphangioma circumscriptum", "Microcystic infiltrating lymphatic malformation", "Microcystic lymphangioma", "Superficial lymphangioma", "Superficial lymphatic malformation"]} |
Thrombotic thrombocytopenic purpura (TTP), acquired is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. ... | Thrombotic thrombocytopenic purpura, acquired | c2584778 | 2,720 | gard | https://rarediseases.info.nih.gov/diseases/4607/thrombotic-thrombocytopenic-purpura-acquired | 2021-01-18T17:57:22 | {"mesh": ["C536901"], "synonyms": ["Purpura, thrombotic thrombocytopenic", "TTP", "Moschowitz syndrome", "Idiopathic thrombotic thrombocytopenic purpura"]} |
Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.
*[v]: View this template
*[t]: Di... | Idiopathic pulmonary hemosiderosis | c0020807 | 2,721 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99931 | 2021-01-23T18:15:38 | {"gard": ["6763"], "mesh": ["C536281"], "omim": ["178550", "235500"], "umls": ["C0020807"], "icd-10": ["E83.1+", "J99.8*"]} |
Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which resu... | Hypoinsulinemic hypoglycemia and body hemihypertrophy | c3278384 | 2,722 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293964 | 2021-01-23T17:14:35 | {"omim": ["240900"]} |
A number sign (#) is used with this entry because of evidence that trigonocephaly-2 (TRIGNO2) is caused by heterozygous mutation in the FREM1 gene (608944) on chromosome 9p22.
Description
Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1... | TRIGONOCEPHALY 2 | c0265535 | 2,723 | omim | https://www.omim.org/entry/614485 | 2019-09-22T15:55:07 | {"mesh": ["D003398"], "omim": ["614485"], "orphanet": ["3366"], "synonyms": ["Alternative titles", "CRANIOSYNOSTOSIS, METOPIC"]} |
Psychosexual disorder
SpecialtyPsychiatry, psychology
Psychosexual disorder is a sexual problem that is psychological, rather than physiological in origin. "Psychosexual disorder" was a term used in Freudian psychology. The term of psychosexual disorder (Turkish: Psikoseksüel bozukluk) used by the TAF for homo... | Psychosexual disorder | c0033951 | 2,724 | wikipedia | https://en.wikipedia.org/wiki/Psychosexual_disorder | 2021-01-18T18:39:01 | {"umls": ["C0033951"], "icd-10": ["F66.8", "F66.9"], "wikidata": ["Q7256482"]} |
Shared psychosis, a psychiatric syndrome in which symptoms of a delusional belief are transmitted from one individual to another
For other uses, see Folie à deux (disambiguation).
This article's tone or style may not reflect the encyclopedic tone used on Wikipedia. See Wikipedia's guide to writing better articl... | Folie à deux | c0036939 | 2,725 | wikipedia | https://en.wikipedia.org/wiki/Folie_%C3%A0_deux | 2021-01-18T18:56:47 | {"mesh": ["D012753"], "icd-9": ["297.3"], "icd-10": ["F24"], "wikidata": ["Q1435409"]} |
Serous cystadenoma may refer to:
* Ovarian serous cystadenoma, a very common benign tumour of the ovary
* Pancreatic serous cystadenoma, also known as serous microcystic adenoma
Index of articles associated with the same name
This article includes a list of related items that share the same name (or simila... | Serous cystadenoma | c0206709 | 2,726 | wikipedia | https://en.wikipedia.org/wiki/Serous_cystadenoma | 2021-01-18T19:09:36 | {"mesh": ["D018293"], "umls": ["C0206709"], "wikidata": ["Q7455061"]} |
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy and hearing loss-1 (CRDHL1) is caused by homozygous or compound heterozygous mutation in the CEP78 gene (617110) on chromosome 9q21.
Description
CRDHL1 is characterized by cone-rod dystrophy and sensorineural hearing loss, wit... | CONE-ROD DYSTROPHY AND HEARING LOSS 1 | c4310657 | 2,727 | omim | https://www.omim.org/entry/617236 | 2019-09-22T15:46:23 | {"omim": ["617236"], "synonyms": ["Alternative titles", "CRDHL"]} |
A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.
## Epidemiology
Bowen-Conradi syndrome (BCS) birth prevalence is... | Bowen-Conradi syndrome | c1859405 | 2,728 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1270 | 2021-01-23T18:40:21 | {"gard": ["5950"], "mesh": ["C537081"], "omim": ["211180"], "umls": ["C1859405"], "icd-10": ["Q87.8"], "synonyms": ["Bowen syndrome, Hutterite type"]} |
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.
## Epidemiology
The prevalence of AOA2 in France is estimated to be 1/900,000.
## Clinical descript... | Spinocerebellar ataxia with axonal neuropathy type 2 | c1853761 | 2,729 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=64753 | 2021-01-23T17:28:13 | {"gard": ["12860"], "mesh": ["C537308"], "omim": ["606002", "615217"], "icd-10": ["G60.2"], "synonyms": ["AOA2", "Ataxia-oculomotor apraxia type 2", "SCAN 2", "SCAR1"]} |
A number sign (#) is used with this entry because this form of nonobstructive spermatogenic failure, designated Y-linked spermatogenic failure-2 (SPGFY2), is most often caused by interstitial deletions on the Y chromosome. Complete deletion of the AZFc interval of the Y chromosome is the most common known genetic cau... | SPERMATOGENIC FAILURE, Y-LINKED, 2 | c1507149 | 2,730 | omim | https://www.omim.org/entry/415000 | 2019-09-22T16:17:01 | {"doid": ["0070187"], "mesh": ["C536297"], "omim": ["415000"], "orphanet": ["1646"], "synonyms": ["Alternative titles", "SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED", "AZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED", "OLIGOZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED", "OLIGOSPERMIA, NONOBSTRUCTIVE, Y-LINKED", "SPERMATOGENIC ARREST... |
An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and ... | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | c3150897 | 2,731 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254334 | 2021-01-23T17:10:52 | {"gard": ["12454"], "omim": ["613641"], "icd-10": ["G60.0"], "synonyms": ["RI-CMT type B"]} |
A number sign (#) is used with this entry because 20 to 60% of cases of Silver-Russell syndrome (SRS) are caused by the epigenetic changes of DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1; 616186) on chromosome 11p15.5. ICR1 regulates the imprinted expression of H19 (103280) and IGF2 (147470). A... | SILVER-RUSSELL SYNDROME | c0175693 | 2,732 | omim | https://www.omim.org/entry/180860 | 2019-09-22T16:35:06 | {"doid": ["14681"], "mesh": ["D056730"], "omim": ["180860"], "icd-10": ["Q87.1"], "orphanet": ["813"], "synonyms": ["Alternative titles", "RUSSELL-SILVER SYNDROME", "SILVER-RUSSELL DWARFISM"], "genereviews": ["NBK1324"]} |
Depression characterized by improved mood in response to positive events
Main article: Major depressive disorder
Atypical depression
Other namesDepression with atypical features
Depression subtypes
SpecialtyPsychiatry
SymptomsLow mood, mood reactivity, hyperphagia, hypersomnia, leaden paralysis, interperson... | Atypical depression | c0154437 | 2,733 | wikipedia | https://en.wikipedia.org/wiki/Atypical_depression | 2021-01-18T18:34:14 | {"umls": ["C0154437"], "wikidata": ["Q2657784"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 25 (MC1DN25) is caused by homozygous or compound heterozygous mutation in the NDUFB3 gene (603839) on chromosome 2q33.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency... | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | c2936907 | 2,734 | omim | https://www.omim.org/entry/618246 | 2019-09-22T15:43:00 | {"mesh": ["C537475"], "omim": ["618246"], "orphanet": ["2609"]} |
A number sign (#) is used with this entry because Treacher Collins syndrome-3 (TCS3) is caused by compound heterozygous mutation in the POLR1C gene (610060) on chromosome 6p21.
Description
Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanti... | TREACHER COLLINS SYNDROME 3 | c0242387 | 2,735 | omim | https://www.omim.org/entry/248390 | 2019-09-22T16:25:36 | {"doid": ["2908"], "mesh": ["D008342"], "omim": ["248390"], "orphanet": ["861"], "synonyms": ["Alternative titles", "MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE"], "genereviews": ["NBK1532"]} |
PELVIS syndrome
SpecialtyDermatology
PELVIS syndrome is a congenital condition characterized by perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag.[1]
## See also[edit]
* SACRAL syndrome
* List of cutaneous conditions
##... | PELVIS syndrome | c4510867 | 2,736 | wikipedia | https://en.wikipedia.org/wiki/PELVIS_syndrome | 2021-01-18T18:46:17 | {"orphanet": ["83628"], "synonyms": ["Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome", "PELVIS syndrome", "Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag s... |
Form of cataract due to an occupational exposure
Glassblower's cataracts are a form of cataract due to an occupational exposure. They are formed by many years or decades of exposure to infrared radiation while working in the occupation of glass blowing, or working close to hot or molten metals such with metal fo... | Glassblower's cataract | c1398738 | 2,737 | wikipedia | https://en.wikipedia.org/wiki/Glassblower%27s_cataract | 2021-01-18T18:53:44 | {"wikidata": ["Q16964175"]} |
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: "Diastrophic dysplasia" – news · newspapers · books · scholar · JSTOR (July 2008) (Learn how and when to remove this... | Diastrophic dysplasia | c1857255 | 2,738 | wikipedia | https://en.wikipedia.org/wiki/Diastrophic_dysplasia | 2021-01-18T18:46:39 | {"gard": ["6275"], "mesh": ["C565626", "C536170"], "umls": ["C1857255"], "orphanet": ["628"], "wikidata": ["Q3335666"]} |
After-death paleness that occurs in those with light/white skin
Stages of death
1. Pallor mortis
2. Algor mortis
3. Rigor mortis
4. Livor mortis
5. Putrefaction
6. Decomposition
7. Skeletonization
8. Fossilization
* v
* t
* e
Pallor mortis (Latin: pallor "paleness", morti... | Pallor mortis | None | 2,739 | wikipedia | https://en.wikipedia.org/wiki/Pallor_mortis | 2021-01-18T18:33:32 | {"wikidata": ["Q3493484"]} |
In a 13-year-old Turkish girl and her 11-year-old brother, Kilic et al. (1998) described a syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis. The girl also had ptosis. The children were intellectually normal. The par... | CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE | c2931051 | 2,740 | omim | https://www.omim.org/entry/602612 | 2019-09-22T16:13:33 | {"mesh": ["C535876"], "omim": ["602612"], "orphanet": ["1323"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300.
Mapping
In a genome screen of individuals from an isolated population from the southwestern area of the Netherlands, ascertained as part of the Genetic Research in Isolated Populations (GRIP) program, Li... | ALZHEIMER DISEASE 14 | c0276496 | 2,741 | omim | https://www.omim.org/entry/611154 | 2019-09-22T16:03:37 | {"doid": ["0110047"], "mesh": ["D000544"], "omim": ["611154"], "orphanet": ["1020"]} |
Checkpoint inhibitor induced colitis
SpecialtyGastroenterology
SymptomsDiarrhea, abdominal pain, rectal bleeding
ComplicationsPerforation, toxic megacolon
Usual onset~6-7 weeks after starting checkpoint inhibitor[1]
CausesCancer immunotherapy treatment
Risk factorsCaucasian, NSAID use, anti-CTLA4 treatmen... | Checkpoint inhibitor induced colitis | None | 2,742 | wikipedia | https://en.wikipedia.org/wiki/Checkpoint_inhibitor_induced_colitis | 2021-01-18T19:10:31 | {"wikidata": ["Q96374841"]} |
A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include ... | Distal arthrogryposis | c0265213 | 2,743 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97120 | 2021-01-23T18:19:47 | {"umls": ["C0265213"], "icd-10": ["Q68.8"]} |
## Clinical Features
Williams et al. (1978) described 3 sisters and a brother with microcephaly, mental retardation, and early onset of symptoms of achalasia. The brother, who died in Mexico at age 4.5 years, had recurrent vomiting (Dumars et al., 1980). The parents denied consanguinity but came from the same small... | ACHALASIA-MICROCEPHALY SYNDROME | c1860212 | 2,744 | omim | https://www.omim.org/entry/200450 | 2019-09-22T16:31:40 | {"doid": ["0050796"], "mesh": ["C536010"], "omim": ["200450"], "orphanet": ["929"]} |
Human disease
Precocious puberty
Other namesEarly puberty
SpecialtyGynecology, endocrinology
Precocious puberty is the early development of phenotypical sex organs before the age of 8 in girls and 9 in boys.
In medicine, precocious puberty is puberty occurring at an unusually early age. In most cases, the ... | Precocious puberty | c0034013 | 2,745 | wikipedia | https://en.wikipedia.org/wiki/Precocious_puberty | 2021-01-18T19:02:00 | {"gard": ["7446"], "mesh": ["D011629"], "umls": ["C0034013"], "icd-9": ["259.1"], "icd-10": ["E22.8", "E30.1"], "orphanet": ["95708"], "wikidata": ["Q224513"]} |
Not to be confused with nephrosis.
Inflammation of the kidneys
Nephritis
Enlarged kidney(anatomy)
SpecialtyNephrology
TypesGlomerulonephritis[1] and Interstitial nephritis[2]
Diagnostic methodUltrasound, X-ray[3]
TreatmentDepends on type(See type)
Nephritis is inflammation of the kidneys and may ... | Nephritis | c0027697 | 2,746 | wikipedia | https://en.wikipedia.org/wiki/Nephritis | 2021-01-18T19:08:43 | {"mesh": ["D009393"], "umls": ["C0027697"], "wikidata": ["Q401402"]} |
orthopedic injury
This article is about acute hip dislocation. For developmental hip dysplasia, see Hip dysplasia.
Dislocation of hip
X-ray showing a joint dislocation of the left hip.
SpecialtyOrthopedics
SymptomsHip pain, trouble moving the hip[1]
ComplicationsAvascular necrosis of the hip, arthritis[... | Hip dislocation | c0019554 | 2,747 | wikipedia | https://en.wikipedia.org/wiki/Hip_dislocation | 2021-01-18T18:54:57 | {"gard": ["2691"], "mesh": ["D006617"], "umls": ["C0019554"], "icd-9": ["835"], "icd-10": ["Q65.2", "S73.0", "Q65.0"], "wikidata": ["Q634638"]} |
## Clinical Features
Shashi et al. (1996) described a newborn infant with first-cousin parents who had a complex congenital heart defect and minor anomalies suggestive of trisomy 18. Blood lymphocyte and skin fibroblast karyotypes were normal. He died in the neonatal period from postoperative complications. On ... | TRISOMY 18-LIKE SYNDROME | c1832677 | 2,748 | omim | https://www.omim.org/entry/601161 | 2019-09-22T16:15:16 | {"mesh": ["C563382"], "omim": ["601161"]} |
Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the... | Generalized arterial calcification of infancy | c1859728 | 2,749 | medlineplus | https://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy/ | 2021-01-27T08:25:50 | {"gard": ["8380"], "mesh": ["C565944"], "omim": ["208000", "614473"], "synonyms": []} |
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate... | Marfan syndrome | c0024796 | 2,750 | medlineplus | https://medlineplus.gov/genetics/condition/marfan-syndrome/ | 2021-01-27T08:24:57 | {"gard": ["6975"], "mesh": ["D008382"], "omim": ["154700"], "synonyms": []} |
Anterior horn disease
Anterior horn(#1above) is affected in this condition
SpecialtyNeurology
Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord.[1][2] Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral scler... | Anterior horn disease | c0154681 | 2,751 | wikipedia | https://en.wikipedia.org/wiki/Anterior_horn_disease | 2021-01-18T19:07:38 | {"mesh": ["D016472"], "umls": ["C0154681"], "wikidata": ["Q4771350"]} |
Syringofibroadenoma
Other namesAcrosyringeal nevus of Weedon and Lewis
SpecialtyDermatology
Syringofibroadenoma is a cutaneous condition characterized by a hyperkeratotic nodule or plaque involving the extremities.[1]:668
It is considered of eccrine origin.[2]
## See also[edit]
* Syringadenoma papil... | Syringofibroadenoma | c1266060 | 2,752 | wikipedia | https://en.wikipedia.org/wiki/Syringofibroadenoma | 2021-01-18T18:39:33 | {"mesh": ["D057091"], "umls": ["C1266060"], "icd-10": ["D23"], "wikidata": ["Q7663357"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-64 (EIEE64) is caused by heterozygous mutation in the RHOBTB2 gene (607352) on chromosome 8p21.
Description
Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by on... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | c4693899 | 2,753 | omim | https://www.omim.org/entry/618004 | 2019-09-22T15:44:06 | {"omim": ["618004"]} |
Part of a series on
Psychology
* Outline
* History
* Subfields
Basic types
* Abnormal
* Behavioral genetics
* Biological
* Cognitive/Cognitivism
* Comparative
* Cross-cultural
* Cultural
* Differential
* Developmental
* Evolutionary
* Experimental
* Mathematical
* Neurop... | The Truman Show delusion | None | 2,754 | wikipedia | https://en.wikipedia.org/wiki/The_Truman_Show_delusion | 2021-01-18T18:28:14 | {"wikidata": ["Q633567"]} |
Goudsmit et al. (1971) reported a family in which 2 sisters and 3 brothers had Dohle bodies. Two of these 5 died of acute myeloblastic leukemia and 2 others had iron-resistant anemia. The parents and another sib did not have Dohle bodies. No statement concerning parental consanguinity was made. Dohle bodies of po... | DOHLE BODIES AND LEUKEMIA | c1857225 | 2,755 | omim | https://www.omim.org/entry/223350 | 2019-09-22T16:28:38 | {"mesh": ["C565617"], "omim": ["223350"]} |
Ruminal tympany, also known as bloat, is a disease of ruminant animals, characterized by an excessive volume of gas in the rumen. Ruminal tympany may be primary, known as frothy bloat, or secondary, known as free-gas bloat.[1]
In the rumen, food eaten by the ruminant is fermented by microbes. This fermentation proce... | Ruminal tympany | c0267225 | 2,756 | wikipedia | https://en.wikipedia.org/wiki/Ruminal_tympany | 2021-01-18T18:30:27 | {"wikidata": ["Q3333918"]} |
Bone marrow failure occurs in individuals who produce an insufficient amount of red blood cells, white blood cells or platelets. Red blood cells transport oxygen to be distributed throughout the body’s tissue. White blood cells fight off infections that enter the body. Bone marrow also contains platelets, which t... | Bone marrow failure | c0030312 | 2,757 | wikipedia | https://en.wikipedia.org/wiki/Bone_marrow_failure | 2021-01-18T19:02:29 | {"mesh": ["D000080983", "D010198"], "umls": ["CL406855"], "wikidata": ["Q7882181"]} |
A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.
*[v]: View this template
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*[c.]: ci... | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency | c4310780 | 2,758 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=404493 | 2021-01-23T17:25:04 | {"omim": ["616949"], "icd-10": ["G11.1"], "synonyms": ["SCAR23", "Spinocerebellar ataxia autosomal recessive type 23"]} |
Primary pulmonary histoplasmosis
SpecialtyInfectious disease
Primary pulmonary histoplasmosis is caused by inhalation of Histoplasma capsulatum spores, and approximately 10% of people with this acute infection develop erythema nodosum.[1]:316
## See also[edit]
* Histoplasmosis
## References[edit]
1. ^ ... | Primary pulmonary histoplasmosis | None | 2,759 | wikipedia | https://en.wikipedia.org/wiki/Primary_pulmonary_histoplasmosis | 2021-01-18T18:58:42 | {"icd-9": ["115.95"], "wikidata": ["Q7243160"]} |
Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk inde... | Spinocerebellar ataxia 15 | c1847725 | 2,760 | gard | https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15 | 2021-01-18T17:57:36 | {"mesh": ["C564685"], "omim": ["606658"], "orphanet": ["98769"], "synonyms": ["Spinocerebellar ataxia 16 (formerly)", "Spinocerebellar ataxia type 15", "SCA16 (formerly)", "SCA15/16", "SCA15"]} |
Disease where stones form in the gallbladder
Gallstone
Other namesGallstone disease, cholelith, cholecystolithiasis (gallstone in the gallbladder), choledocholithiasis (gallstone in a bile duct)[1]
Gallstones typically form in the gallbladder and may result in symptoms if they block the biliary system.
Pronunc... | Gallstone | c0008350 | 2,761 | wikipedia | https://en.wikipedia.org/wiki/Gallstone | 2021-01-18T18:39:31 | {"mesh": ["D042882", "D002769"], "umls": ["C0267869", "CL386104"], "icd-9": ["574", "574.9"], "icd-10": ["K80"], "wikidata": ["Q272714"]} |
Hematidrosis
Other namesBlood sweat, haematidrosis, hematohidrosis, hemidrosis
Red-tinted sweat (or "blood sweat") caused by hematohidrosis
SpecialtyDermatology
Hematidrosis, also called blood sweat, is a very rare condition in which a human sweats blood.[1] The term is from Ancient Greek haîma/haímato... | Hematidrosis | c1536022 | 2,762 | wikipedia | https://en.wikipedia.org/wiki/Hematidrosis | 2021-01-18T19:01:27 | {"gard": ["13131"], "umls": ["C1536022"], "wikidata": ["Q1642094"]} |
## Cloning and Expression
In a search for genes able to cause dedifferentiated rat hepatoma cells to recover normal liver-specific functions, Ng et al. (1992) isolated a novel human DNA sequence, which they termed HALF1 for 'human activator of liver function-1.' Boccaccio et al. (1994) cloned genomic DNA containing... | RIBOSOMAL PROTEIN L21 PSEUDOGENE 1 | c1863884 | 2,763 | omim | https://www.omim.org/entry/603416 | 2019-09-22T16:13:04 | {"omim": ["603416"]} |
A number sign (#) is used with this entry because of evidence that progressive myoclonic epilepsy-6 (EPM6) is caused by homozygous or compound heterozygous mutation in the GOSR2 gene (604027) gene on chromosome 17q21.
Description
Progressive myoclonic epilepsy-6 is an autosomal recessive neurologic disorder charact... | EPILEPSY, PROGRESSIVE MYOCLONIC, 6 | c3279627 | 2,764 | omim | https://www.omim.org/entry/614018 | 2019-09-22T15:56:47 | {"doid": ["891"], "omim": ["614018"], "orphanet": ["280620"], "synonyms": ["EPM6", "GOSR2-related progressive myoclonus ataxia", "North Sea progressive myoclonus epilepsy", "PME type 6", "Progressive myoclonus epilepsy type 6"]} |
Collection of cerebrospinal fluid (CSF), without blood, located under the dural membrane
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This article may be too technical for most readers to understand. Please ... | Subdural hygroma | c0751533 | 2,765 | wikipedia | https://en.wikipedia.org/wiki/Subdural_hygroma | 2021-01-18T18:52:44 | {"mesh": ["D013353"], "umls": ["C0751533"], "icd-9": ["432.1"], "icd-10": ["D18.1"], "wikidata": ["Q3792460"]} |
A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symp... | SMARCA4-deficient sarcoma of thorax | None | 2,766 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466962 | 2021-01-23T17:05:00 | {"synonyms": ["SMARCA4-deficient thoracic sarcoma"]} |
Pyridoxal 5'-phosphate-dependent epilepsy is a rare genetic metabolic disorder. Babies born with this disorder are not able to make enough Vitamin B6 and this causes the baby to start having seizures soon after they are born (also called early onset or neonatal onset seizures). The normal drugs to treat seizures (ant... | Pyridoxal 5'-phosphate-dependent epilepsy | c1864723 | 2,767 | gard | https://rarediseases.info.nih.gov/diseases/10730/pyridoxal-5-phosphate-dependent-epilepsy | 2021-01-18T17:58:01 | {"mesh": ["C566449"], "omim": ["610090"], "umls": ["C1864723"], "orphanet": ["79096"], "synonyms": ["Pyridoxine-5'-phosphate oxidase deficiency", "PNPO Deficiency", "Pyridoxamine 5-prime-phosphate oxidase deficiency", "PNPO-related neonatal epileptic encephalopathy"]} |
Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary (see this term), arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% o... | Malignant dysgerminomatous germ cell tumor of the ovary | None | 2,768 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99912 | 2021-01-23T18:18:03 | {"icd-10": ["C56"], "synonyms": ["Dysgerminomatous germ cell cancer of the ovary", "Malignant ovarian dysgerminoma"]} |
No Sex (Anti-HIV/AIDS ― Signage) in Ghana: These Signages from the Ghana AIDS Commission are everywhere in Ghana.
Like other countries worldwide, HIV/AIDS is present in Ghana. As of 2014, an estimated 150,000 people infected with the virus. HIV prevalence is at 1.37 percent in 2014 and is highest in the Eastern Regi... | HIV/AIDS in Ghana | None | 2,769 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Ghana | 2021-01-18T19:03:11 | {"wikidata": ["Q5629834"]} |
VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).
## Epidemiology
The incidence of VIPoma in the gene... | VIPoma | c0011993 | 2,770 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97282 | 2021-01-23T18:39:09 | {"gard": ["3787", "5493"], "mesh": ["D003969"], "umls": ["C0011993", "C0086768"], "icd-10": ["E16.8"], "synonyms": ["Diarrheogenic islet cell tumor", "Pancreatic cholera", "VIP-secreting tumor", "Verner-Morrison syndrome", "WDHA syndrome", "Watery diarrhea-hypokalemia-achlorhydria syndrome"]} |
Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.
## Epidemiology
The prevalence is estimated at between 1/100,000 and 1/33,333... | Scimitar syndrome | c0036400 | 2,771 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=185 | 2021-01-23T18:44:16 | {"mesh": ["D012587"], "umls": ["C0036400"], "icd-10": ["Q26.8"], "synonyms": ["Congenital pulmonary venolobar syndrome", "Epibronchial right pulmonary vein syndrome", "Halasz syndrome", "Hypogenetic lung syndrome"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, ... | RNF13-related severe early-onset epileptic encephalopathy | None | 2,772 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=544503 | 2021-01-23T17:07:54 | {"omim": ["618379"], "icd-10": ["G40.4"], "synonyms": ["RNF13-related severe EOEE"]} |
Amorphosynthesis, also called a hemi-sensory deficit, is a neuropsychological condition in which a patient experiences unilateral inattention to sensory input.[1] This phenomenon is frequently associated with damage to the right cerebral hemisphere resulting in severe sensory deficits that are observed on the contral... | Amorphosynthesis | c0278179 | 2,773 | wikipedia | https://en.wikipedia.org/wiki/Amorphosynthesis | 2021-01-18T19:01:33 | {"umls": ["C0278179"], "wikidata": ["Q4747782"]} |
Diffuse infantile fibromatosis is a condition affecting infants during the first 3 years of life. It is usually confined to the muscles of the arms, neck, and shoulder area.[1]:607 There is a multicentric infiltration of muscle fibers with fibroblasts resembling those seen in aponeurotic fibromas.[1]:607
## See also... | Diffuse infantile fibromatosis | c0406580 | 2,774 | wikipedia | https://en.wikipedia.org/wiki/Diffuse_infantile_fibromatosis | 2021-01-18T18:30:52 | {"wikidata": ["Q5275414"]} |
A rare neoplastic disease characterized by a localized, unifocal, low-grade tumor composed of mature mast cells, without evidence of systemic mastocytosis or skin lesions. The tumor most commonly arises in the lung and shows a non-destructive growth pattern.
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*[t]: Discuss this templa... | Extracutaneous mastocytoma | c0272202 | 2,775 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=66662 | 2021-01-23T18:33:40 | {"mesh": ["D034801"], "umls": ["C0272202"], "icd-10": ["C96.2"]} |
## Description
Partial dorsal agenesis, or congenital short pancreas, is characterized by the presence of the accessory papilla, the terminal end of the main dorsal duct of Santorini, or the pancreatic body. All of these structures are missing in complete dorsal agenesis of the pancreas (Wildling et al., 1993).
Cl... | PANCREAS, DORSAL, AGENESIS OF | c1850096 | 2,776 | omim | https://www.omim.org/entry/167755 | 2019-09-22T16:36:43 | {"mesh": ["C564908"], "omim": ["167755"], "orphanet": ["2805"]} |
Juvenile plantar dermatosis
Other namesAtopic winter feet,[1] Dermatitis plantaris sicca,[1] Forefoot dermatitis,[1] Moon-boot foot syndrome,[1] and Sweaty sock dermatitis[1]
SpecialtyDermatology
Juvenile plantar dermatosis is a condition usually seen in children between the ages of 3 and 14, and involves th... | Juvenile plantar dermatosis | c0406302 | 2,777 | wikipedia | https://en.wikipedia.org/wiki/Juvenile_plantar_dermatosis | 2021-01-18T18:40:46 | {"umls": ["C0406302"], "icd-10": ["L30.1"], "wikidata": ["Q6318967"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 23 (MC1DN23) is caused by homozygous mutation in the NDUFA12 gene (614530) on chromosome 12q22. One such patient has been reported.
For a discussion of genetic heterogeneity of mitochondrial complex... | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 | None | 2,778 | omim | https://www.omim.org/entry/618244 | 2019-09-22T15:42:58 | {"omim": ["618244"], "orphanet": ["255241"], "synonyms": ["Infantile subacute necrotizing encephalopathy with leukodystrophy", "Leigh disease with leukodystrophy"]} |
Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
*[v]: View this template
*[t]: Discuss this template... | Phosphoserine aminotransferase deficiency, infantile/juvenile form | c1970253 | 2,779 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284417 | 2021-01-23T17:10:12 | {"mesh": ["C567032"], "omim": ["610992"], "umls": ["C1970253"], "icd-10": ["E72.8"], "synonyms": ["PSAT deficiency, infantile/juvenile form"]} |
## Summary
### Clinical characteristics.
NTRK1 congenital insensitivity to pain with anhidrosis (NTRK1-CIPA) is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries ... | NTRK1 Congenital Insensitivity to Pain with Anhidrosis | None | 2,780 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1769/ | 2021-01-18T21:08:57 | {"synonyms": ["Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)"]} |
A number sign (#) is used with this entry because of evidence that septooptic dysplasia can be caused by mutation in the homeobox gene HESX1 (601802) on chromosome 3p14.
Mutation in the HESX1 gene can also cause combined pituitary hormone deficiency-5 (CPHD5), without associated optic nerve hypoplasia or defects of ... | SEPTOOPTIC DYSPLASIA | c0338503 | 2,781 | omim | https://www.omim.org/entry/182230 | 2019-09-22T16:34:49 | {"doid": ["0060857"], "mesh": ["D025962"], "omim": ["182230"], "orphanet": ["3157", "95494"], "synonyms": ["Alternative titles", "DE MORSIER SYNDROME"], "genereviews": ["NBK1378"]} |
Quebec platelet disorder
Other namesFactor V Quebec
Autosomal dominant is the manner of inheritance of this condition
Quebec platelet disorder (QPD) is a rare autosomal dominant bleeding disorder first described in a family from the province of Quebec in Canada.[1][2] The disorder is characterized by large a... | Quebec platelet disorder | c1866423 | 2,782 | wikipedia | https://en.wikipedia.org/wiki/Quebec_platelet_disorder | 2021-01-18T18:47:56 | {"gard": ["8345"], "mesh": ["C536260"], "umls": ["C1866423"], "orphanet": ["220436"], "wikidata": ["Q7269853"]} |
A clinico-serological subtype of mixed cryoglobulinemia syndrome, is an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.
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*[e]: Ed... | Mixed cryoglobulinemia type III | None | 2,783 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93555 | 2021-01-23T17:52:18 | {"icd-10": ["D89.1"], "synonyms": ["MC type III"]} |
An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT; see this term) which generally occurs several years after pregnancy.
## Epidemiology
Annual incidence and prevalence are not known.
## Clinical description
Indicative signs are irregular metrorrhagia and moderate increas... | Epithelioid trophoblastic tumor | c1266159 | 2,784 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254698 | 2021-01-23T18:41:01 | {"umls": ["C1266159"], "icd-10": ["D39.2"]} |
Xerophthalmia
In xerophthalmia, bitot's spots occur after conjuncival xerosis.
Pronunciation
* /ˌzɪərɒfˈθælmiə/ (listen)
SpecialtyOphthalmology
SymptomsNight blindness
ComplicationsBlindness due to corneal opacity
CausesVitamin A deficiency (main)
Xerophthalmia (from Ancient Greek "xērós" (ξη... | Xerophthalmia | c0043349 | 2,785 | wikipedia | https://en.wikipedia.org/wiki/Xerophthalmia | 2021-01-18T18:48:39 | {"mesh": ["D014985"], "umls": ["C0043349"], "wikidata": ["Q1054713"]} |
Svejcar et al. (1976) described 2 brothers with only the fifth digit on each limb. There were no other abnormalities and no consanguinity was known. This may have been an instance of gonadal mosaicism because Sommer and Hines (1992) described a clear instance of autosomal dominant inheritance; indeed, in that fam... | TETRAMELIC MONODACTYLY | c1861233 | 2,786 | omim | https://www.omim.org/entry/187510 | 2019-09-22T16:32:44 | {"mesh": ["C566066"], "omim": ["187510"], "orphanet": ["2564"]} |
Frydman et al. (1993) described a male infant, born of first-cousin parents, with omphalocele, prune belly, thoracolumbar scoliosis, anal atresia, urethral obstruction with hypertrophic urinary bladder, dilated ureters, and dysplastic and hypoplastic kidneys. The proband's mother and all 3 of his sisters had cervical... | CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION | c1832391 | 2,787 | omim | https://www.omim.org/entry/601389 | 2019-09-22T16:14:53 | {"mesh": ["C538072"], "omim": ["601389"]} |
A number sign (#) is used with this entry because frontonasal dysplasia-1 (FND1), also designated frontorhiny, is caused by homozygous mutation in the aristaless-like homeobox-3 gene (ALX3; 606014) on chromosome 1p13.
Description
The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a conste... | FRONTONASAL DYSPLASIA 1 | c1876203 | 2,788 | omim | https://www.omim.org/entry/136760 | 2019-09-22T16:40:58 | {"mesh": ["C538065"], "omim": ["136760"], "orphanet": ["391474"], "synonyms": ["Alternative titles", "FRONTONASAL MALFORMATION", "ALX3-related frontonasal dysplasia", "Isolated median cleft face syndrome", "Frontonasal dysplasia type 1", "FRONTONASAL DYSPLASIA", "MEDIAN FACIAL CLEFT SYNDROME", "FRONTORHINY"]} |
Hunan hand syndrome
Other namesChili burn
SpecialtyDermatology
CausesExposure to capsaicin from improper handling of chili peppers, higher risk from high concentrations of capsaicin
PreventionWearing rubber gloves when preparing or handling chili peppers, especially for superhot chilis
Hunan hand syndrom... | Hunan hand syndrome | None | 2,789 | wikipedia | https://en.wikipedia.org/wiki/Hunan_hand_syndrome | 2021-01-18T19:05:18 | {"wikidata": ["Q16914162"]} |
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate,... | 5p13 microduplication syndrome | c2750805 | 2,790 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329802 | 2021-01-23T19:07:51 | {"mesh": ["C567717"], "omim": ["613174"], "umls": ["C2750805"], "icd-10": ["Q92.3"], "synonyms": ["Dup(5)(p13)", "Trisomy 5p13"]} |
## Description
Oculopharyngodistal myopathy (OPDM) is characterized by adult-onset of eye and facial muscle weakness, distal muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. There are variable manifestations of the disorder regarding muscle involvement and severity. Bo... | OCULOPHARYNGODISTAL MYOPATHY | c1834014 | 2,791 | omim | https://www.omim.org/entry/164310 | 2019-09-22T16:37:17 | {"mesh": ["C563508"], "omim": ["164310"], "orphanet": ["98897"], "synonyms": ["Alternative titles", "FACIOOCULOLARYNGOPHARYNGEAL MYOPATHY WITH DISTAL AND RESPIRATORY INVOLVEMENT"]} |
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.
## Epidemiology
The syndrome is extremely rare and has been... | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | c3151857 | 2,792 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280679 | 2021-01-23T17:07:08 | {"omim": ["300845"], "synonyms": ["Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism"]} |
Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.
## Epidemiology
MCM is the most common form of CM (accounting for u... | Maculopapular cutaneous mastocytosis | c0042111 | 2,793 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79457 | 2021-01-23T18:22:54 | {"mesh": ["D014582"], "omim": ["154800"], "umls": ["C0042111"], "icd-10": ["Q82.2"], "synonyms": ["Urticaria pigmentosa"]} |
Bruyn and Went (1964) described a degenerative disorder of the central nervous system associated with optic atrophy in at least 18 members of a family. One of these was female but the diagnosis was in some doubt in this case. The neurologic disorder showed features intermediate between those of hereditary spastic par... | OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME | c1839565 | 2,794 | omim | https://www.omim.org/entry/311100 | 2019-09-22T16:17:29 | {"mesh": ["C564084"], "omim": ["311100"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Congenital rubella syndrome" – news · newspapers · books · scholar · JSTOR (December 2007) (Learn how and when to remov... | Congenital rubella syndrome | c0035921 | 2,795 | wikipedia | https://en.wikipedia.org/wiki/Congenital_rubella_syndrome | 2021-01-18T18:31:59 | {"gard": ["4744"], "mesh": ["D012410"], "umls": ["C0035921"], "icd-9": ["771.0"], "icd-10": ["P35.0"], "orphanet": ["290"], "wikidata": ["Q1724539"]} |
A number sign (#) is used with this entry because of evidence that trichomegaly (TCMGLY) is caused by homozygous mutation in the FGF5 gene (165190) on chromosome 4q21.
Clinical Features
Unusually long eyelashes is a morphologic trait which is observed in multiple relatives and has been reported in association w... | TRICHOMEGALY | c0854699 | 2,796 | omim | https://www.omim.org/entry/190330 | 2019-09-22T16:32:29 | {"omim": ["190330"], "orphanet": ["411788"], "synonyms": ["Alternative titles", "EYELASHES, LONG"]} |
A number sign (#) is used with this entry because of evidence that microcephaly, seizures, and developmental delay (MCSZ) is caused by homozygous or compound heterozygous mutation in the PNKP gene (605610) on chromosome 19q13.
Description
Microcephaly, seizures, and developmental delay is an autosomal recessive neu... | MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY | c0393706 | 2,797 | omim | https://www.omim.org/entry/613402 | 2019-09-22T15:58:47 | {"doid": ["0080457"], "omim": ["613402"], "orphanet": ["1934"], "synonyms": ["Alternative titles", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10"]} |
Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficu... | Vici syndrome | c1855772 | 2,798 | gard | https://rarediseases.info.nih.gov/diseases/448/vici-syndrome | 2021-01-18T17:57:11 | {"mesh": ["C535566"], "omim": ["242840"], "umls": ["C1855772"], "orphanet": ["1493"], "synonyms": ["Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum", "Absent corpus callosum cataract immunodeficiency", "Dionisi Vici Sabetta Gambarara syndrome"]} |
Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.
## Epidemiology
The incidence is unknown. Due to the disease's mild and non-specific manifestations it is thought to be underreported. PF is... | Pontiac fever | c0343528 | 2,799 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99748 | 2021-01-23T17:03:10 | {"mesh": ["D007877"], "umls": ["C0343528"], "icd-10": ["A48.2"]} |
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