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Items: 7

1.

RNA biosynthesis

Used to denote the transcription of DNA into RNA. The biochemical machinery includes sequence-specific DNA binding proteins that directly act in the regulation of the transcription process, other protein factors that participate in the assembly of the transcription complex, and RNA polymerase. [from NCI]

MedGen UID:
272243
Concept ID:
C1328948
Molecular Function
2.

Dengue

Dengue is an infection caused by a virus. You can get it if an infected mosquito bites you. Dengue does not spread from person to person. It is common in warm, wet areas of the world. Outbreaks occur in the rainy season. Dengue is rare in the United States. . Symptoms include a high fever, headaches, joint and muscle pain, vomiting, and a rash. In some cases, dengue turns into dengue hemorrhagic fever, which causes bleeding from your nose, gums, or under your skin. It can also become dengue shock syndrome, which causes massive bleeding and shock. These forms of dengue are life-threatening. There is no specific treatment. Most people with dengue recover within 2 weeks. Until then, drinking lots of fluids, resting and taking non-aspirin fever-reducing medicines might help. People with the more severe forms of dengue usually need to go to the hospital and get fluids. To lower your risk when traveling to areas where dengue is found. -Wear insect repellent with DEET . -Wear clothes that cover your arms, legs and feet . -Close unscreened doors and windows . NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
3721
Concept ID:
C0011311
Disease or Syndrome
3.

Unable

A response indicating that an individual cannot do something. [from NCI]

MedGen UID:
721425
Concept ID:
C1299582
Finding
4.

Noonan syndrome 5

Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population. [from GeneReviews]

MedGen UID:
370589
Concept ID:
C1969057
Disease or Syndrome
5.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
6.

Anorchia

The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984). [from OMIM]

MedGen UID:
78602
Concept ID:
C0266427
Disease or Syndrome
7.

Negative

Involving disadvantage or harm. [from NCI]

MedGen UID:
61377
Concept ID:
C0205160
Finding; Qualitative Concept
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