text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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Congo floor maggot
Scientific classification
Kingdom:
Animalia
Phylum:
Arthropoda
Class:
Insecta
Order:
Diptera
Family:
Calliphoridae
Genus:
Auchmeromyia
Species:
A. senegalensis
Binomial name
Auchmeromyia senegalensis
Macquart, 1851
A Congo floor maggot. Colour... | Congo floor maggot | None | 6,100 | wikipedia | https://en.wikipedia.org/wiki/Congo_floor_maggot | 2021-01-18T18:39:06 | {"wikidata": ["Q5160521"]} |
Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.
## Epidemiology
Less than 30 families have been reported in the literature.
## Clinical description
Clinical features of SEI are simil... | Superficial epidermolytic ichthyosis | c0432306 | 6,101 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=455 | 2021-01-23T18:25:53 | {"gard": ["2966"], "mesh": ["D053560"], "omim": ["146800"], "umls": ["C0432306"], "icd-10": ["Q80.8"], "synonyms": ["Ichthyosis bullosa of Siemens", "SEI"]} |
A number sign (#) is used with this entry because of evidence that primary coenzyme Q10 deficiency-3 (COQ10D3) is caused by compound heterozygous mutation in the PDSS2 gene (610564) on chromosome 6q21. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity o... | COENZYME Q10 DEFICIENCY, PRIMARY, 3 | c3553358 | 6,102 | omim | https://www.omim.org/entry/614652 | 2019-09-22T15:54:37 | {"doid": ["0070240"], "omim": ["614652"], "orphanet": ["255249"], "synonyms": ["Infantile subacute necrotizing encephalopathy with nephrotic syndrome", "Leigh disease with nephrotic syndrome"], "genereviews": ["NBK410087"]} |
A number sign (#) is used with this entry because hyperproinsulinemia is caused by heterozygous mutation in the INS gene (176730) on chromosome 11p15.
Description
Insulin (INS; 176730) is produced posttranslationally from its precursor molecule, proinsulin, by site-directed proteolysis in beta-cell granules. Conver... | HYPERPROINSULINEMIA | c0342283 | 6,103 | omim | https://www.omim.org/entry/616214 | 2019-09-22T15:49:35 | {"mesh": ["C562776"], "omim": ["616214"]} |
For a general discussion of hereditary prostate cancer, see 176807.
Mapping
Xu et al. (1998) presented evidence for the location of a prostate cancer susceptibility gene, which they symbolized HPCX, on Xq27-q28. Heterogeneity estimates suggested that the gene accounts for approximately 16% of hereditary prostate ca... | PROSTATE CANCER, HEREDITARY, X-LINKED 1 | c2931456 | 6,104 | omim | https://www.omim.org/entry/300147 | 2019-09-22T16:20:49 | {"doid": ["10283"], "mesh": ["C537243"], "omim": ["300147"], "orphanet": ["1331"], "synonyms": ["Alternative titles", "PROSTATE CANCER SUSCEPTIBILITY, X-LINKED"]} |
Doctors have documented numerous cases of insertion of foreign bodies into the urethra, typically as the result of auto-erotic activities. This can result in infections and serious internal bleeding.[1][2]
A wide variety of solid objects have been reported to have been inserted into the urethra, including batteries,... | Urethral foreign body | c0433676 | 6,105 | wikipedia | https://en.wikipedia.org/wiki/Urethral_foreign_body | 2021-01-18T18:55:21 | {"icd-10": ["T19.0"], "wikidata": ["Q7900430"]} |
Adenosarcoma of the uterus is a rare tumor of the uterus that typically originates in the lining of the uterus (endometrium). This type of tumor is characterized by both benign (noncancerous) and malignant components (low-grade sarcoma). Typical symptoms in affected individuals may include abnormal vaginal bleedi... | Adenosarcoma of the uterus | c2103110 | 6,106 | gard | https://rarediseases.info.nih.gov/diseases/9636/adenosarcoma-of-the-uterus | 2021-01-18T18:02:16 | {"mesh": ["C538232"], "umls": ["C2103110"], "synonyms": ["Mullerian adenosarcoma of the uterus", "Uterine adenosarcoma"]} |
Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict.
Convers... | Conversion disorder | c0009946 | 6,107 | gard | https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder | 2021-01-18T18:01:06 | {"mesh": ["D003291"], "umls": ["C0009946"], "synonyms": ["Functional neurological disorder", "FND", "Functional movement disorder"]} |
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.
## Epidemiology
It has been reported in a father and his son.
## Clinical description
Bone dysplasia is characterized by diaphyseal thickening of the long bones, metaphyseal defor... | Microspherophakia-metaphyseal dysplasia syndrome | c1834880 | 6,108 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2551 | 2021-01-23T17:26:28 | {"gard": ["5481"], "mesh": ["C536540"], "omim": ["157151"], "umls": ["C1834880"], "icd-10": ["Q87.5"], "synonyms": ["Verloes-Van Maldergem-de Marneffe syndrome"]} |
Gluszcz et al. (1963) described 4 sibs with cutaneous hemangiomatosis, acrocyanosis, hyperflexibility of joints, and phimosis. Some showed slight abnormalities of the vertebral bodies and ocular hypertelorism. In 2 (a female aged 15 and a male aged 19), tumors resembling cerebellar angioblastoma of von Hippel-Lindau ... | HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES | c0220738 | 6,109 | omim | https://www.omim.org/entry/234800 | 2019-09-22T16:27:13 | {"mesh": ["C562438"], "omim": ["234800"]} |
Physiological anisocoria is when human pupils differ in size. It is generally considered to be benign, though it must be distinguished from Congenital Horner's syndrome, pharmacological dilatation or other conditions connected to the sympathetic nervous system.[1] The prevalence of physiological anisocoria has not be... | Physiological anisocoria | None | 6,110 | wikipedia | https://en.wikipedia.org/wiki/Physiological_anisocoria | 2021-01-18T18:35:31 | {"wikidata": ["Q7189712"]} |
Osteomyelitis
Other namesBone infection
Osteomyelitis of the 1st toe
SpecialtyInfectious disease, orthopedics
SymptomsPain in a specific bone, overlying redness, fever, weakness[1]
ComplicationsAmputation[2]
Usual onsetYoung or old[1]
DurationShort or long term[2]
CausesBacterial, fungal[2]
Risk fac... | Osteomyelitis | c0008707 | 6,111 | wikipedia | https://en.wikipedia.org/wiki/Osteomyelitis | 2021-01-18T18:58:53 | {"gard": ["7286"], "mesh": ["D010019"], "umls": ["C0008707", "C2242472", "C0029443"], "icd-10": ["M86"], "wikidata": ["Q938983"]} |
Reticular pigmented anomaly of the flexures
Other namesKitamura reticulate acropigmentation[1]
SpecialtyDermatology
Reticular pigmented anomaly of the flexures (also known as "dark dot disease", and "Dowling–Degos' disease") is a fibrous anomaly of the flexures or bending parts of the axillae, neck and i... | Reticular pigmented anomaly of the flexures | c3714534 | 6,112 | wikipedia | https://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures | 2021-01-18T18:46:19 | {"gard": ["9775"], "mesh": ["C562924"], "umls": ["C3714534"], "orphanet": ["79145"], "wikidata": ["Q7316720"]} |
Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibri... | Middle ear neuroendocrine tumor | None | 6,113 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100084 | 2021-01-23T17:23:55 | {} |
Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
## Epidemiology
The exact prevalence of this corneal dystrophy is not known but it is very ... | Congenital stromal corneal dystrophy | c1864738 | 6,114 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101068 | 2021-01-23T17:05:37 | {"mesh": ["C566452"], "omim": ["610048"], "umls": ["C1864738"], "icd-10": ["H18.5"], "synonyms": ["CSCD", "Congenital hereditary stromal dystrophy", "Witschel dystrophy"]} |
Dyck and Ohta (1975) classified four types of hereditary sensory neuropathy. Robinson et al. (1977) and Staal and Mechelse (1978) reported examples of hereditary sensory neuropathy apparently distinct from any of the four. Staal and Mechelse's report concerned 2 brothers with late-onset sensory ataxia without ulcerat... | NEUROPATHY, HEREDITARY SENSORY, ATYPICAL | c1850384 | 6,115 | omim | https://www.omim.org/entry/256860 | 2019-09-22T16:24:18 | {"mesh": ["C564946"], "omim": ["256860"]} |
Duplication of urethra is a very rare condition where there is an extra urethra, instead of the normal one. Urethral duplications can be classified into three types: incomplete urethral duplication (type 1), complete urethral duplication (type 2), and urethral duplication as a result of two bladdersThe urethra is the... | Duplication of urethra | c0266348 | 6,116 | gard | https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra | 2021-01-18T18:00:48 | {"umls": ["C0266348"], "orphanet": ["237"], "synonyms": ["Urethral duplication"]} |
A number sign (#) is used with this entry because Hennekam lymphangiectasia-lymphedema syndrome-2 (HKLLS2) is caused by homozygous or compound heterozygous mutation in the FAT4 gene (612411) on chromosome 4q28.
Biallelic mutation in the FAT4 gene can also cause Van Maldergem syndrome-2 (VMLDS2; 615546), a distinct d... | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | c0340834 | 6,117 | omim | https://www.omim.org/entry/616006 | 2019-09-22T15:50:13 | {"doid": ["0060366"], "mesh": ["C537255"], "omim": ["616006"], "orphanet": ["2136"]} |
A number sign (#) is used with this entry because of evidence that leukoencephalopathy with dystonia and motor neuropathy (LKDMN) is caused by homozygous mutation in the SCP2 gene (184755) on chromosome 1p32. One such patient has been reported.
Clinical Features
Ferdinandusse et al. (2006) described the first known... | LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY | c3150990 | 6,118 | omim | https://www.omim.org/entry/613724 | 2019-09-22T15:57:42 | {"omim": ["613724"], "orphanet": ["163684"], "synonyms": ["STEROL CARRIER PROTEIN 2 DEFICIENCY", "Alternative titles"]} |
Galactocele
SpecialtyGynaecology
A galactocele (also called lacteal cyst or milk cyst) is a retention cyst containing milk or a milky substance that is usually located in the mammary glands. They can occur in women during or shortly after lactation.
They present as a firm mass, often subareolar, and are cause... | Galactocele | c0152243 | 6,119 | wikipedia | https://en.wikipedia.org/wiki/Galactocele | 2021-01-18T18:42:55 | {"gard": ["8401"], "mesh": ["C535998"], "umls": ["C0152243"], "wikidata": ["Q686131"]} |
A number sign (#) is used with this entry because of evidence that this form of pigmented hypomaturation-type amelogenesis imperfecta (AI2A2) is caused by homozygous mutation in the matrix metalloproteinase-20 gene (MMP20; 604629) on chromosome 11q22.
For a discussion of genetic heterogeneity of the hypomaturati... | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 | c0399372 | 6,120 | omim | https://www.omim.org/entry/612529 | 2019-09-22T16:01:17 | {"doid": ["0110060"], "mesh": ["C536606"], "omim": ["612529"], "orphanet": ["100033", "88661"], "synonyms": ["Alternative titles", "AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2"]} |
Sclerema neonatorum
SpecialtyPediatrics
Sclerema neonatorum is a rare and severe skin condition that is characterized by diffuse hardening of the subcutaneous tissue with minimal inflammation.[1][2] It usually affects premature, ill newborns. Prognosis is poor.
Minimal inflammation helps distinguish sclerema ... | Sclerema neonatorum | c0036415 | 6,121 | wikipedia | https://en.wikipedia.org/wiki/Sclerema_neonatorum | 2021-01-18T18:29:49 | {"mesh": ["D012593"], "umls": ["C0036415"], "icd-9": ["778.1"], "icd-10": ["P83.0"], "wikidata": ["Q3952465"]} |
A number sign (#) is used with this entry because Omenn syndrome can be caused by mutation in the RAG1 (179615) and RAG2 (179616) genes on chromosome 11p and the Artemis gene (DCLRE1C; 605988) on chromosome 10p.
See also T-, B-, NK+ severe combined immunodeficiency (SCID) (601457), a more severe form of immunode... | OMENN SYNDROME | c2700553 | 6,122 | omim | https://www.omim.org/entry/603554 | 2019-09-22T16:13:02 | {"doid": ["0060010"], "mesh": ["D016511"], "omim": ["603554"], "orphanet": ["39041"], "synonyms": ["Alternative titles", "RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA", "SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA"]} |
Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. It may be associated with familial adenomatous polyposis (FAP) or Lynch syndrome (also known as hereditary non-polyposis colorectal cancer or HNPCC). The mo... | Turcot syndrome | c0265325 | 6,123 | gard | https://rarediseases.info.nih.gov/diseases/420/turcot-syndrome | 2021-01-18T17:57:15 | {"mesh": ["C536928"], "omim": ["276300"], "umls": ["C0265325"], "synonyms": ["Malignant tumors of the central nervous system associated with familial polyposis of the colon", "CNS tumors with Familial polyposis of the colon", "Mismatch Repair Cancer Syndrome", "MMRCS", "Mismatch Repair Deficiency", "MMR Deficiency", "B... |
For phenotypic information on carotid artery intimal medial thickness, see entry 609338.
Fox et al. (2004) performed a genomewide linkage analysis to localize a quantitative trait locus (QTL) influencing carotid intimal medial thickness (IMT). Carotid IMT was measured in 596 men and 629 women from 311 extended famil... | CAROTID INTIMAL MEDIAL THICKNESS 2 | c1838020 | 6,124 | omim | https://www.omim.org/entry/608447 | 2019-09-22T16:07:47 | {"omim": ["608447"], "synonyms": ["Alternative titles", "CIMT2", "CAROTID INTIMAL MEDIAL THICKNESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 12"]} |
A number sign (#) is used with this entry because of evidence that insulinomatosis and diabetes mellitus syndrome (INSDM) is caused by heterozygous mutation in the MAFA gene (610303) on chromosome 8q24.
Description
Insulinomatosis and diabetes mellitus syndrome is an autosomal dominant disorder in which affected in... | INSULINOMATOSIS AND DIABETES MELLITUS | c1578917 | 6,125 | omim | https://www.omim.org/entry/147630 | 2019-09-22T16:39:24 | {"mesh": ["C563258"], "omim": ["147630"], "synonyms": ["Alternative titles", "ISLET CELL ADENOMATOSIS"]} |
## Description
The KMT2A gene, or MLL, encodes a DNA-binding protein that methylates histone H3 (see 602810) lys4 (H3K4) and positively regulates expression of target genes, including multiple HOX genes (see 142980). MLL is a frequent target for recurrent translocations in acute leukemias that may be characterized ... | LYSINE-SPECIFIC METHYLTRANSFERASE 2A | c3888194 | 6,126 | omim | https://www.omim.org/entry/159555 | 2019-09-22T16:37:50 | {"omim": ["159555"], "synonyms": ["Alternative titles", "MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA GENE", "TRITHORAX, DROSOPHILA, HOMOLOG OF", "HRX", "MYELOID/LYMPHOID LEUKEMIA GENE", "MIXED LINEAGE LEUKEMIA GENE", "ALL1 GENE", "CXXC FINGER PROTEIN 7"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (July 2014) (Learn how and when to remove this template message)
Benign lymphoepithelial les... | Benign lymphoepithelial lesion | c0026103 | 6,127 | wikipedia | https://en.wikipedia.org/wiki/Benign_lymphoepithelial_lesion | 2021-01-18T18:37:00 | {"gard": ["7043"], "mesh": ["D008882"], "umls": ["C0026103"], "icd-9": ["527.1"], "orphanet": ["79078"], "wikidata": ["Q516562"]} |
In 2 infant sons of first-cousin parents, Beemer and van Ertbruggen (1984) described a lethal syndrome of hydrocephalus, cardiac malformation, dense bones, ambiguous external genitalia and other genital anomalies, thrombocytopenia, and unusual facies, particularly bulbous nose and broad nasal bridge.
GU \- Am... | BEEMER LETHAL MALFORMATION SYNDROME | c1859526 | 6,128 | omim | https://www.omim.org/entry/209970 | 2019-09-22T16:30:32 | {"mesh": ["C537668"], "omim": ["209970"], "orphanet": ["1237"], "synonyms": ["Alternative titles", "HYDROCEPHALUS, CARDIAC MALFORMATION, DENSE BONES, ETC."]} |
Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and deat... | Edinburgh malformation syndrome | c0795933 | 6,129 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1895 | 2021-01-23T18:57:33 | {"gard": ["2074"], "mesh": ["C563051"], "omim": ["129850"], "umls": ["C0795933"], "icd-10": ["Q95.2"], "synonyms": ["Typus Edinburgensis"]} |
A number sign (#) is used with this entry because of evidence that ARVD11 is caused by heterozygous mutation in the desmocollin-2 gene (DSC2; 125645) on chromosome 18q. Homozygous mutation in the DSC2 gene causes arrhythmogenic right ventricular cardiomyopathy associated with mild palmoplantar keratoderma and woolly ... | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | c1862511 | 6,130 | omim | https://www.omim.org/entry/610476 | 2019-09-22T16:04:28 | {"doid": ["0110082"], "mesh": ["C566254"], "omim": ["107970", "610476"], "orphanet": ["217656"], "synonyms": ["Familial isolated ARVD", "Familial isolated ARVC", "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11", "Alternative titles", "Familial isolated arrhythmogenic ventricular dysplasia", "Familial isolated arrhy... |
Hashimoto-Pritzker disease, also known as congenital self-healing reticulo-histiocytosis, is a very rare disease characterized by single or multiple red-purple or brown pimples (papules) and lumps (nodules) present at birth (congenital) or soon thereafter. Classic signs and symptoms include congenital or early develo... | Hashimoto-Pritzker syndrome | c1275336 | 6,131 | gard | https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome | 2021-01-18T18:00:09 | {"mesh": ["C535843"], "umls": ["C1275336"], "orphanet": ["99872"], "synonyms": ["Hashimoto-Pritzker histiocytosis", "Hashimoto-Pritzker disease", "Congenital Langerhans cell histiocytosis", "OBSOLETE: Hashimoto-Pritzker syndrome"]} |
Marcano and Richieri-Costa (1998) reported a Brazilian family with 5 individuals, in 3 generations, with malar hypoplasia, cleft lip with or without cleft palate, mild upslanting palpebral fissures, and abnormal ears. The authors suggested that this phenotype may represent a novel mandibulofacial dysostosis syndrome,... | MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE | c1858101 | 6,132 | omim | https://www.omim.org/entry/604830 | 2019-09-22T16:11:43 | {"mesh": ["C565744"], "omim": ["604830"]} |
## Clinical Features
Verloes and Lesenfants (1997) described a 7-year-old girl with severe hypertelorism, huge palpebral fissures, ectropion of the lower lid, broad raised nasal base, a wide nasal tip, long smooth philtrum, macrostomia, irregularly placed teeth, and micrognathia. Her intellectual development was no... | MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA | c1865181 | 6,133 | omim | https://www.omim.org/entry/602562 | 2019-09-22T16:13:33 | {"mesh": ["C566520"], "omim": ["602562"], "orphanet": ["357158"], "synonyms": ["Alternative titles", "VERLOES-LESENFANTS SYNDROME", "MACROBLEPHARON, ECTROPION, HYPERTELORISM, AND MACROSTOMIA"]} |
Itai-itai disease (イタイイタイ病, itai-itai byō, "it hurts-it hurts disease") was the name given to the mass cadmium poisoning of Toyama Prefecture, Japan, starting around 1912. The term "itai-itai disease" was coined by locals[1] for the severe pains (Japanese: 痛い itai) people with the condition felt in the spine and join... | Itai-itai disease | c4524035 | 6,134 | wikipedia | https://en.wikipedia.org/wiki/Itai-itai_disease | 2021-01-18T18:45:28 | {"wikidata": ["Q183472"]} |
Tongue disease
A picture of black hairy tongue. A non serious tongue disease.
SpecialtyGastroenterology
Tongue diseases can be congenital or acquired, and are multiple in number. Considered according to a surgical sieve, some example conditions which can involve the tongue are discussed below. Glossitis ... | Tongue disease | c0040409 | 6,135 | wikipedia | https://en.wikipedia.org/wiki/Tongue_disease | 2021-01-18T18:32:38 | {"mesh": ["D014060"], "umls": ["C0426492", "C0025988", "C0040409"], "wikidata": ["Q7107436"]} |
STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplast... | STT3B-CDG | c2931007 | 6,136 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370924 | 2021-01-23T18:50:08 | {"mesh": ["C535751"], "omim": ["615597"], "umls": ["C2931007"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type Ix", "CDG-Ix", "CDG1X", "Carbohydrate deficient glycoprotein syndrome type Ix", "Congenital disorder of glycosylation type 1x", "Congenital disorder of glycosylation type Ix"]} |
A number sign (#) is used with this entry because a polymorphism of the gene encoding glycoprotein Ib-alpha (GP1BA; 606672) confers susceptibility to nonarteritic anterior ischemic optic neuropathy.
Clinical Features
Deutsch et al. (1990) described a family in which identical twin sisters in their forties had bilat... | NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO | c1847711 | 6,137 | omim | https://www.omim.org/entry/258660 | 2019-09-22T16:24:02 | {"omim": ["258660"], "synonyms": ["Alternative titles", "NAION, SUSCEPTIBILITY TO", "OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO"]} |
## Description
Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Genera... | ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES | c1862841 | 6,138 | omim | https://www.omim.org/entry/106995 | 2019-09-22T16:44:58 | {"mesh": ["C537766"], "omim": ["106995"], "orphanet": ["1487"], "synonyms": ["Alternative titles", "COOKS SYNDROME"]} |
Neonatal diabetes
Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce or use insulin. NDM is a monogenic (controlled by a single gene) form of diabetes that occurs in the first 6 months of life. Infants do not produce enough insulin, leading to an increase in ... | Neonatal diabetes | c0158981 | 6,139 | wikipedia | https://en.wikipedia.org/wiki/Neonatal_diabetes | 2021-01-18T18:34:32 | {"umls": ["C0158981"], "orphanet": ["224"], "wikidata": ["Q2898645"]} |
Antibiotic synergy is one of three responses possible when two or more antibiotics are used simultaneously to treat an infection. In the synergistic response, the applied antibiotics work together to produce an effect more potent than if each antibiotic were applied singly.[1] Compare to the additive effect, wher... | Antibiotic synergy | None | 6,140 | wikipedia | https://en.wikipedia.org/wiki/Antibiotic_synergy | 2021-01-18T19:04:34 | {"wikidata": ["Q19903313"]} |
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.
## Epidemiology
It has been described in 4 patients so far.
## Clinical description
Dysmorphic features include bitemporal narrowing, smooth philtrum, pointed chin and dysmorph... | 15q14 microdeletion syndrome | c4225666 | 6,141 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261190 | 2021-01-23T19:10:26 | {"omim": ["616898"], "icd-10": ["Q93.5"], "synonyms": ["Del(15)(q14)", "Monosomy 15q14"]} |
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
## Epidemiology
The disease has been reported in more than twenty families from Europe, the United St... | Spinocerebellar ataxia type 14 | c1854369 | 6,142 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98763 | 2021-01-23T17:31:49 | {"gard": ["9867"], "mesh": ["C537196"], "omim": ["605361"], "umls": ["C1854369"], "icd-10": ["G11.2"], "synonyms": ["SCA14"]} |
In human milk, a fourth PGM locus is expressed. The products of 4 alleles are demonstrable by electrophoresis (Ibarra and Cantu, 1981). Nonlactating breast tissue does not show PGM4 activity. The frequency of each of the 4 alleles was estimated to be as follows: PGM4(1) = 0.346; PGM4(2) = 0.475; PGM4(3) = 0.114; PGM4... | PHOSPHOGLUCOMUTASE 4 | c1868356 | 6,143 | omim | https://www.omim.org/entry/172110 | 2019-09-22T16:36:17 | {"omim": ["172110"], "synonyms": ["Alternative titles", "PGM4", "MILK PGM"]} |
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms ha... | Pachydermoperiostosis | c2674695 | 6,144 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2796 | 2021-01-23T18:10:42 | {"gard": ["7299"], "mesh": ["D010004"], "omim": ["167100", "259100", "614441"], "icd-10": ["M89.4"], "synonyms": ["PDP", "Touraine-Solente-Gole syndrome"]} |
Epidermoid brain cysts (also called intracranial epidermoid cysts or tumors) usually form in the very early stages of the development of a baby (embryo). The cysts develop when cells that are meant to become skin, hair, and nails (epithelial cells) are trapped among the cells that form the brain. Less commonly, the c... | Epidermoid brain cyst | c0854911 | 6,145 | gard | https://rarediseases.info.nih.gov/diseases/13044/epidermoid-brain-cyst | 2021-01-18T18:00:41 | {"synonyms": ["Central nervous system epidermoid cyst", "Intracranial epidermoid cyst", "Epidermoid brain tumor"]} |
Chorangiosis
Micrograph of a chorangiosis. H&E stain.
SpecialtyPathology
Chorangiosis is a placental pathology characterized by an abundance of blood vessels within the chorionic villi.
## Contents
* 1 Associations
* 2 Diagnosis
* 3 See also
* 4 Additional images
* 5 References
* 6 External lin... | Chorangiosis | c0546474 | 6,146 | wikipedia | https://en.wikipedia.org/wiki/Chorangiosis | 2021-01-18T18:39:46 | {"wikidata": ["Q5104958"]} |
A number sign (#) is used with this entry because of evidence that microhydranencephaly (MHAC) is caused by homozygous mutation in the NDE1 gene (609449) on chromosome 16p13. One such family has been reported.
Mutation in the NDE1 gene can also cause lissencephaly-4 (LIS4; 614019).
Description
Microhydranencep... | MICROHYDRANENCEPHALY | c1857977 | 6,147 | omim | https://www.omim.org/entry/605013 | 2019-09-22T16:11:47 | {"mesh": ["C537555"], "omim": ["605013"], "orphanet": ["443162"], "synonyms": ["MHAC", "Alternative titles", "HYDRANENCEPHALY AND MICROCEPHALY"]} |
## Clinical Features
Kovacs et al. (1997) described 2 consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe dilatation of the lateral cerebral ventricles. On the parents' decision, both pregnancies were terminated. In the first fe... | VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY | c1865780 | 6,148 | omim | https://www.omim.org/entry/602200 | 2019-09-22T16:13:53 | {"mesh": ["C566565"], "omim": ["602200"]} |
Abortion in Belgium was fully legalised on 4 April 1990.[1] Abortion is legal until 12 weeks after conception (14 weeks after the last menstrual period)[2][3] it is required for women to receive counselling at least six days prior to the abortion and to check in with her doctor to monitor her health in the weeks afte... | Abortion in Belgium | None | 6,149 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Belgium | 2021-01-18T18:37:26 | {"wikidata": ["Q4668443"]} |
Typical stance of affected lambs, with arched back
Nutritional Muscular Dystrophy (Nutritional Myopathy or White Muscle Disease) is a disease caused by a deficiency of selenium and vitamin E in dietary intake.[1] Soils that contains low levels of selenium produce forages and grains that are deficient in selenium... | Nutritional muscular dystrophy | c0043153 | 6,150 | wikipedia | https://en.wikipedia.org/wiki/Nutritional_muscular_dystrophy | 2021-01-18T18:45:24 | {"mesh": ["D014912"], "wikidata": ["Q4832491"]} |
A number sign (#) is used with this entry because lymphangioleiomyomatosis (LAM) can occur in association with tuberous sclerosis complex (TSC; 191100) due to mutations in the TSC1 (605284) or TSC2 (191092) genes. Sporadic LAM typically results from 2 somatic mutations in the TSC2 gene, although a fraction of sporadi... | LYMPHANGIOLEIOMYOMATOSIS | c0751674 | 6,151 | omim | https://www.omim.org/entry/606690 | 2019-09-22T16:10:12 | {"doid": ["3319"], "mesh": ["D018192"], "omim": ["606690"], "icd-9": ["516.4"], "icd-10": ["J84.81"], "orphanet": ["538"], "synonyms": ["Alternative titles", "LYMPHANGIOMYOMATOSIS"]} |
Desmoplastic trichoepithelioma
Desmoplastic trichoepithelioma or sclerosing epithelial hamartoma
A desmoplastic trichoepithelioma is a cutaneous condition characterized by a solitary, firm skin lesion on the face.[1]:672
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 See also
* 4 References
## Diagnosi... | Desmoplastic trichoepithelioma | c0432526 | 6,152 | wikipedia | https://en.wikipedia.org/wiki/Desmoplastic_trichoepithelioma | 2021-01-18T18:42:15 | {"wikidata": ["Q5264830"]} |
Annular pustular psoriasis
SpecialtyDermatology
Annular pustular psoriasis is a rare variant of pustular psoriasis, having an annular, or circinate, lesion morphology that may appear at the onset of pustular psoriasis, with a tendency to spread and form enlarged rings.[1]:411[2]
## See also[edit]
* Pso... | Annular pustular psoriasis | None | 6,153 | wikipedia | https://en.wikipedia.org/wiki/Annular_pustular_psoriasis | 2021-01-18T18:48:52 | {"icd-10": ["L40.8"], "wikidata": ["Q4769723"]} |
A number sign (#) is used with this entry because of evidence that X-linked cardiac valvular dysplasia is caused by mutation in the FLNA gene (300017) on chromosome Xq28.
Description
X-linked cardiac valvular dysplasia is a rare form of heart disease characterized by multivalvular dysplasia and regurgitation, w... | CARDIAC VALVULAR DYSPLASIA, X-LINKED | c0262436 | 6,154 | omim | https://www.omim.org/entry/314400 | 2019-09-22T16:17:05 | {"mesh": ["C535576"], "omim": ["314400"], "orphanet": ["555877"], "synonyms": ["Alternative titles", "VALVULAR HEART DISEASE, CONGENITAL", "MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED", "EHLERS-DANLOS SYNDROME, TYPE V, FORMERLY"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive cutis laxa type IIC (ARCL2C) is caused by homozygous mutation in the ATP6V1E1 gene (108746) on chromosome 22q11.
Description
Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with spa... | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | c4479387 | 6,155 | omim | https://www.omim.org/entry/617402 | 2019-09-22T15:45:53 | {"doid": ["0070140"], "omim": ["617402", "219200", "617403"], "orphanet": ["357074"], "synonyms": ["ARCL2, Debré type", "ARCL2, classic type", "Autosomal recessive cutis laxa type 2, Debré type"]} |
Actinic granuloma
Other namesO'Brien granuloma
SpecialtyDermatology
Actinic granuloma is a cutaneous condition characterized histologically by a dermal infiltrate of macrophages.[1]:706
Actinic granuloma is an asymptomatic granulomatous reaction that affects sun-exposed skin, most commonly on the face, neck... | Actinic granuloma | c0263608 | 6,156 | wikipedia | https://en.wikipedia.org/wiki/Actinic_granuloma | 2021-01-18T19:05:02 | {"umls": ["C0263608"], "icd-10": ["L57.5"], "wikidata": ["Q4676884"]} |
A number sign (#) is used with this entry because of evidence that combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) is caused by compound heterozygous mutation in the MTHFD1 gene (172460) on chromosome 14q23.
Description
Combined immunodeficiency and megaloblastic ... | COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA | c4540434 | 6,157 | omim | https://www.omim.org/entry/617780 | 2019-09-22T15:44:58 | {"omim": ["617780"], "synonyms": ["Alternative titles", "METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY"]} |
Deformity involving outward deviation of an extended forearm
Cubitus valgus
Cubitus varus versus cubitus valgus
SpecialtyMedical genetics
Cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended. A small degree of cubitus val... | Cubitus valgus | c0158465 | 6,158 | wikipedia | https://en.wikipedia.org/wiki/Cubitus_valgus | 2021-01-18T18:32:58 | {"icd-9": ["736.01", "755.59"], "icd-10": ["Q74.0", "M21.0"], "wikidata": ["Q1142962"]} |
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (June 2020) (Learn how and when to remove this template message)
total color blindness
Achromatopsia
Known as
Total color blindness... | Achromatopsia | c0152200 | 6,159 | wikipedia | https://en.wikipedia.org/wiki/Achromatopsia | 2021-01-18T18:51:55 | {"mesh": ["D003117"], "umls": ["C0152200"], "orphanet": ["49382"], "wikidata": ["Q432396"]} |
Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cor... | Primary oculocerebral lymphoma | None | 6,160 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=279897 | 2021-01-23T16:57:06 | {"synonyms": ["Primary oculocerebral non-Hodgkin lymphoma"]} |
Neural tube defect involving absence of much of the brain, skull and scalp
Anencephaly
Illustration of an anencephalic fetus
SpecialtyMedical genetics; pediatrics
Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development.[1] It is a cephalic disord... | Anencephaly | c0002902 | 6,161 | wikipedia | https://en.wikipedia.org/wiki/Anencephaly | 2021-01-18T18:55:47 | {"gard": ["5808"], "mesh": ["D000757"], "umls": ["C0002902"], "icd-9": ["740.0"], "orphanet": ["1048"], "wikidata": ["Q529292"]} |
A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.
... | 22q11.2 duplication syndrome | c2675369 | 6,162 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1727 | 2021-01-23T19:09:54 | {"gard": ["10557"], "mesh": ["C567224"], "omim": ["608363"], "umls": ["C2675369"], "icd-10": ["Q92.3"], "synonyms": ["22q11.2 microduplication syndrome", "Dup(22)(q11)", "Duplication 22q11.2", "Trisomy 22q11.2"]} |
McKusick (1966) reported on a woman with proportionate dwarfism and bilateral dislocated hips. She was the product of a first-cousin marriage; her great-grandmother (through whom her parents were related) was dwarfed also. The patient died following surgery for rheumatic heart disease. Fuhrmann (1972) reported sister... | DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION | c1857196 | 6,163 | omim | https://www.omim.org/entry/223550 | 2019-09-22T16:28:40 | {"mesh": ["C565614"], "omim": ["223550"]} |
Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoars... | Recurrent respiratory papillomatosis | c1168198 | 6,164 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=60032 | 2021-01-23T17:20:14 | {"gard": ["111"], "mesh": ["C535297"], "umls": ["C1168198"]} |
## Description
Band 3 is the major glycoprotein of the erythrocyte membrane. It mediates exchange of chloride and bicarbonate across the phospholipid bilayer and plays a central role in respiration of carbon dioxide. It is a 93,000-Da protein composed of 2 distinct domains that function independently. The 50,000-Da... | SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 | c1862320 | 6,165 | omim | https://www.omim.org/entry/109270 | 2019-09-22T16:44:32 | {"omim": ["109270"], "synonyms": ["Alternative titles", "BAND 3 OF RED CELL MEMBRANE", "ERYTHROCYTE MEMBRANE PROTEIN BAND 3", "ERYTHROID PROTEIN BAND 3", "ANION EXCHANGE PROTEIN 1"]} |
Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: rec... | Adenosine Deaminase 2 deficiency | c3887654 | 6,166 | gard | https://rarediseases.info.nih.gov/diseases/12383/adenosine-deaminase-2-deficiency | 2021-01-18T18:02:16 | {"omim": ["615688"], "orphanet": ["404553"], "synonyms": ["ADA2 deficiency", "Vasculitis due to DADA2", "DADA2", "Vasculitis due to ADA2 deficiency", "Polyarteritis nodosa, childhood-onset", "Childhood-onset polyarteritis nodosa"]} |
Acral arteriolar ectasia is characterized by purple serpiginous ectatic arterioles on the back of the fingers, presenting in the fifth decade of life.[1]
A distinct vascular malformation, to our knowledge not described before, is reported. The malformation consists of purple serpiginous vessels on the dorsa of the d... | Acral arteriolar ectasia | None | 6,167 | wikipedia | https://en.wikipedia.org/wiki/Acral_arteriolar_ectasia | 2021-01-18T18:53:12 | {"wikidata": ["Q4675031"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Nodular vasculitis" – news · newspaper... | Nodular vasculitis | c0028258 | 6,168 | wikipedia | https://en.wikipedia.org/wiki/Nodular_vasculitis | 2021-01-18T18:37:32 | {"umls": ["C0028258"], "icd-10": ["L95.8"], "wikidata": ["Q7046754"]} |
A number sign (#) is used with this entry because of evidence that 3-methylglutaconic aciduria type VIII (MGCA8) is caused by homozygous mutation in the HTRA2 gene (606441) on chromosome 2p13.
Description
MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotoni... | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII | c4310650 | 6,169 | omim | https://www.omim.org/entry/617248 | 2019-09-22T15:46:21 | {"omim": ["617248"]} |
## Clinical Features
Book (1950) reported 25 persons in 4 generations of a Swedish family with premolar aplasia, hyperhidrosis, and canities prematura. The author designated the disorder PHC syndrome.
Salinas et al. (1992) described an 18-year-old Caucasian woman with congenitally missing premolars, narrow palate,... | BOOK SYNDROME | c0457014 | 6,170 | omim | https://www.omim.org/entry/112300 | 2019-09-22T16:44:09 | {"mesh": ["C562993"], "omim": ["112300"], "orphanet": ["1262"], "synonyms": ["Alternative titles", "PHC SYNDROME"]} |
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratch... | Arthrogryposis-ectodermal dysplasia syndrome | c1866427 | 6,171 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3200 | 2021-01-23T17:16:05 | {"gard": ["5029"], "mesh": ["C537441"], "omim": ["601701"], "umls": ["C1866427"], "synonyms": ["Stoll-Alembik-Finck syndrome"]} |
Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients f... | Isolated congenital auditory ossicle malformation | None | 6,172 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=162526 | 2021-01-23T17:27:22 | {"icd-10": ["Q16.3"], "synonyms": ["Congenital auditory ossicle malformation without external ear abnormality"]} |
A number sign (#) is used with this entry because Mulchandani-Bhoj-Conlin syndrome (MBCS) is an imprinting disorder involving genes within the imprinted region of chromosome 20.
Description
The Mulchandani-Bhoj-Conlin syndrome is characterized by prenatal growth restriction, severe short stature with proportional h... | MULCHANDANI-BHOJ-CONLIN SYNDROME | c4275029 | 6,173 | omim | https://www.omim.org/entry/617352 | 2019-09-22T15:46:05 | {"omim": ["617352"], "orphanet": ["96186"], "synonyms": ["Alternative titles", "UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 20", "UPD(20)mat", "Maternal UPD(20)"]} |
Megarbane et al. (1999) presented a family with 2 children who had myoclonic epilepsy, congenital deafness, a dystrophic pattern of the macular pigment epithelium, incomplete right bundle branch block, and psychiatric disorders appearing after fever episodes. The parents were second cousins. A mitochondrial origin wa... | MYOCLONIC EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS | c1858478 | 6,174 | omim | https://www.omim.org/entry/604363 | 2019-09-22T16:12:02 | {"mesh": ["C565786"], "omim": ["604363"]} |
Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to produce a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the... | Nephrogenic diabetes insipidus | c0162283 | 6,175 | gard | https://rarediseases.info.nih.gov/diseases/7178/nephrogenic-diabetes-insipidus | 2021-01-18T17:58:46 | {"mesh": ["D018500"], "omim": ["304800"], "orphanet": ["223"], "synonyms": ["Diabetes insipidus nephrogenic", "Diabetes insipidus nephrogenic type 1", "Vasopressin-resistant diabetes insipidus", "ADH resistant diabetes insipidus", "Diabetes insipidus nephrogenic X-linked"]} |
Primrose syndrome was originally described in 1982 and fewer than a dozen cases have been reported in the literature. The most distinctive clinical feature is a calcification (hardening) of the outer ear. Other findings include characteristic facial features, a large head (macrocephaly), and intellectual disability. ... | Primrose syndrome | c0796121 | 6,176 | gard | https://rarediseases.info.nih.gov/diseases/4488/primrose-syndrome | 2021-01-18T17:58:10 | {"mesh": ["C536420"], "omim": ["259050"], "umls": ["C0796121"], "orphanet": ["3042"], "synonyms": ["Intellectual disability-cataracts-calcified pinnae-myopathy syndrome", "Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes"]} |
Paraphrenia
Other namesParaphrenic syndrome
SpecialtyPsychiatry
Paraphrenia is a mental disorder characterized by an organized system of paranoid delusions with or without hallucinations (the positive symptoms of schizophrenia) and without deterioration of intellect or personality (its negative symptom).[1][... | Paraphrenia | c0030484 | 6,177 | wikipedia | https://en.wikipedia.org/wiki/Paraphrenia | 2021-01-18T19:00:51 | {"umls": ["C0030484"], "icd-9": ["297.2"], "icd-10": ["F20.0", "F22.0"], "wikidata": ["Q2476251"]} |
A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).
*[v]: View this template
*[t]: Discuss this ... | ALG13-CDG | c4317295 | 6,178 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324422 | 2021-01-23T18:37:08 | {"gard": ["12401"], "omim": ["300884"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type Is", "CDG-Is", "CDG1S", "Congenital disorder of glycosylation type 1s", "Congenital disorder of glycosylation type Is"]} |
Squamous cell carcinoma of stomach is a rare epithelial tumour of stomach, defined histropathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without ... | Squamous cell carcinoma of the stomach | c1333789 | 6,179 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=418959 | 2021-01-23T18:59:11 | {"icd-10": ["C16.0", "C16.1", "C16.2", "C16.3", "C16.4", "C16.5", "C16.8"], "synonyms": ["Gastric squamous cell carcinoma"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-42 (EIEE42) is caused by heterozygous mutation in the CACNA1A gene (601011) on chromosome 19p13.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Cli... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 | c4310716 | 6,180 | omim | https://www.omim.org/entry/617106 | 2019-09-22T15:46:54 | {"doid": ["0080454"], "omim": ["617106"], "orphanet": ["442835"], "synonyms": ["Undetermined EOEE"]} |
Pulseless electrical activity
Other namesElectromechanical dissociation
A drawing of what a rhythm strip showing PEA could look like
SpecialtyCardiology
Pulseless electrical activity (PEA) refers to cardiac arrest in which the electrocardiogram shows a heart rhythm that should produce a pulse, but does not... | Pulseless electrical activity | c0340861 | 6,181 | wikipedia | https://en.wikipedia.org/wiki/Pulseless_electrical_activity | 2021-01-18T18:42:12 | {"icd-10": ["I46.9"], "wikidata": ["Q1326997"]} |
CD30+ cutaneous T-cell lymphoma
Other namesRegressive atypical histiocytosis, Primary C-ALCL, primary cutaneous anaplastic large cell lymphoma
SpecialtyDermatology
CD30+ cutaneous T-cell lymphoma, also known as primary cutaneous anaplastic large cell lymphoma, is a cutaneous (skin) condition characterize... | CD30+ cutaneous T-cell lymphoma | c1301362 | 6,182 | wikipedia | https://en.wikipedia.org/wiki/CD30%2B_cutaneous_T-cell_lymphoma | 2021-01-18T19:03:01 | {"mesh": ["D054446"], "umls": ["C1698767", "C1301362"], "orphanet": ["300865"], "wikidata": ["Q5009807"]} |
Dialysis-related amyloidosis (DRA), is a type of amyloidosis (see this term) affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syn... | Wild type ABeta2M amyloidosis | None | 6,183 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85446 | 2021-01-23T19:00:14 | {"icd-10": ["E85.3"], "synonyms": ["ABeta2Mwt amyloidosis", "Dialysis-related amyloidosis", "Dialysis-related arthropathy", "Wild type ABeta2-microglobulinic amyloidosis"]} |
A number sign (#) is used with this entry because of evidence that Netherton syndrome (NETH) is caused by homozygous or compound heterozygous mutation in the SPINK5 gene (605010), encoding the serine protease inhibitor LEKTI, on chromosome 5q32.
Description
Netherton syndrome is a rare and severe autosomal recessiv... | NETHERTON SYNDROME | c0265962 | 6,184 | omim | https://www.omim.org/entry/256500 | 2019-09-22T16:24:24 | {"doid": ["0050474"], "mesh": ["D056770"], "omim": ["256500"], "orphanet": ["634"], "synonyms": ["Alternative titles", "ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE", "NS", "NETHERTON DISEASE", "COMEL-NETHERTON SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that parathyroid carcinoma can be caused by mutation in the CDC73 gene (607393) on chromosome 1q.
Clinical Features
Parathyroid carcinomas are an uncommon and often devastating cause of primary hyperparathyroidism (145000) (Wang and Gaz, 1985; Shane, 200... | PARATHYROID CARCINOMA | c0687150 | 6,185 | omim | https://www.omim.org/entry/608266 | 2019-09-22T16:08:06 | {"doid": ["1540"], "mesh": ["D010282"], "omim": ["608266"], "orphanet": ["143"], "synonyms": ["Alternative titles", "PRTC"], "genereviews": ["NBK3789"]} |
A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is... | Primary intralymphatic angioendothelioma | c0346087 | 6,186 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=458768 | 2021-01-23T19:03:40 | {"icd-10": ["D18.0"], "synonyms": ["Dabska tumor"]} |
This article deals with spasticity-based cerebral palsy chiefly affecting the lower extremities, which is the most common. For other types of cerebral-palsy-based spasticity affecting other limbs in varying combinations, see spastic cerebral palsy.
This article needs additional citations for verification. Please hel... | Spastic diplegia | c0023882 | 6,187 | wikipedia | https://en.wikipedia.org/wiki/Spastic_diplegia | 2021-01-18T18:50:29 | {"mesh": ["D002547", "C537945"], "umls": ["C0023882", "C0154695"], "wikidata": ["Q3029045"]} |
Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and c... | Primary familial brain calcification | c4551624 | 6,188 | medlineplus | https://medlineplus.gov/genetics/condition/primary-familial-brain-calcification/ | 2021-01-27T08:25:34 | {"gard": ["6406"], "mesh": ["C536275"], "omim": ["213600", "615007", "615483", "616413", "618317"], "synonyms": []} |
A number sign (#) is used with this entry because this form of speech and language abnormality (SPCH1) is caused by heterozygous mutation in the FOXP2 gene (605317) on chromosome 7q31.
Description
Speech-language disorder-1 is an autosomal dominant disorder characterized by severe orofacial dyspraxia resulting in l... | SPEECH-LANGUAGE DISORDER 1 | c0750927 | 6,189 | omim | https://www.omim.org/entry/602081 | 2019-09-22T16:14:07 | {"doid": ["0111275"], "mesh": ["D001072"], "omim": ["602081"], "orphanet": ["209908"], "synonyms": ["DEVELOPMENTAL VERBAL DYSPRAXIA", "SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA", "Speech and language disorder with orofacial dyspraxia", "CAS", "Alternative titles", "Developmental verbal dyspraxia", "CHILDHOO... |
Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained... | Dopa-responsive dystonia | c1851920 | 6,190 | medlineplus | https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/ | 2021-01-27T08:24:54 | {"gard": ["9817"], "mesh": ["C538007"], "omim": ["128230", "612716", "605407"], "synonyms": []} |
Deviation from normal walking (gait)
Gait abnormality
Other namesAbnormalities of gait
Play media
Quadrupedalism in a Kurdish family
SpecialtyNeurology, orthopedics
Gait abnormality is a deviation from normal walking (gait). Watching a patient walk is the most important part of the neurological ex... | Gait abnormality | c0231687 | 6,191 | wikipedia | https://en.wikipedia.org/wiki/Gait_abnormality | 2021-01-18T18:41:05 | {"mesh": ["D020233"], "umls": ["C0231687"], "icd-10": ["R26"], "wikidata": ["Q827017"]} |
A number sign (#) is used with this entry because complement component-2 deficiency is caused by homozygous or compound heterozygous mutation in the C2 gene (613927) on chromosome 6p21.
Clinical Features
Klemperer et al. (1966, 1967) found C2 deficiency in multiple members of a kindred. No gene product was dete... | COMPLEMENT COMPONENT 2 DEFICIENCY | c3150275 | 6,192 | omim | https://www.omim.org/entry/217000 | 2019-09-22T16:29:29 | {"doid": ["0060295"], "omim": ["217000"], "orphanet": ["169147"], "synonyms": ["Immunodeficiency due to C1, C4, or C2 component complement deficiency", "Alternative titles", "C2 DEFICIENCY", "Immunodeficiency due to an early component of complement deficiency"]} |
Acute monocytic leukemia
SpecialtyHematology, oncology
Acute monocytic leukemia (AMoL, or AML-M5)[1] is a type of acute myeloid leukemia.
## Contents
* 1 Causes
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Causes[edit]
M5 is associated with characteristic chromosomal abnormali... | Acute monocytic leukemia | c0023465 | 6,193 | wikipedia | https://en.wikipedia.org/wiki/Acute_monocytic_leukemia | 2021-01-18T18:47:51 | {"gard": ["525"], "mesh": ["D007948"], "umls": ["C0023465"], "icd-10": ["C93.0"], "orphanet": ["514"], "wikidata": ["Q4677938"]} |
This article needs to be updated. Please update this article to reflect recent events or newly available information. (December 2019)
HIV/AIDS in India is an epidemic. The National AIDS Control Organisation (NACO) estimated that 2.14 million people lived with HIV/AIDS in India in 2017.[1] Despite being home ... | HIV/AIDS in India | None | 6,194 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_India | 2021-01-18T18:48:42 | {"wikidata": ["Q5629844"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Autistic catatonia" – news · newspaper... | Autistic catatonia | None | 6,195 | wikipedia | https://en.wikipedia.org/wiki/Autistic_catatonia | 2021-01-18T19:08:13 | {"wikidata": ["Q23808084"]} |
Abortion in Suriname is illegal except in case of the threat to life or health of the woman. The punishment for a woman who has an abortion is up to three years in prison, and the punishment for a doctor or other person who performs the procedure is up to four years.[1]
In 2007, Health Minister Celsius Waterberg cau... | Abortion in Suriname | None | 6,196 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Suriname | 2021-01-18T18:42:37 | {"wikidata": ["Q4668495"]} |
A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals... | IL21-related infantile inflammatory bowel disease | c4014258 | 6,197 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477661 | 2021-01-23T18:04:03 | {"omim": ["615767"], "synonyms": ["IL21-related infantile IBD"]} |
## Clinical Features
Hoffmann (1894) described slowly progressive juvenile amyotrophic lateral sclerosis with concomitantly progressive dementia in 4 sibs. Staal and Went (1968) described 7 sibs (out of 15), offspring of a first-cousin marriage, affected by the same disorder. Three boys and 4 girls were affected. D... | AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA | c1859806 | 6,198 | omim | https://www.omim.org/entry/205200 | 2019-09-22T16:31:05 | {"mesh": ["C565956"], "omim": ["205200"], "synonyms": ["Alternative titles", "ALS-DEMENTIA COMPLEX"]} |
The Jonah complex is the fear of success or the fear of being one's best which prevents self-actualization, or the realization of one's own potential.[1][2] It is the fear of one's own greatness, the evasion of one's destiny, or the avoidance of exercising one's talents.[1][3] As the fear of achieving a personal wors... | Jonah complex | None | 6,199 | wikipedia | https://en.wikipedia.org/wiki/Jonah_complex | 2021-01-18T18:35:18 | {"wikidata": ["Q6013650"]} |
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