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Items: 1 to 20 of 22

1.

Chromosomal translocation

A genetic exchange where a piece of one chromosome is transfered to another chromosome. [from NCI]

MedGen UID:
21243
Concept ID:
C0040715
Cell or Molecular Dysfunction
2.

Oculocutaneous albinism

Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.Several additional types of this disorder have been proposed, each affecting one or a few families. [from GTR]

MedGen UID:
36250
Concept ID:
C0078918
Congenital Abnormality
3.

Albinism

A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin. [from NCI]

MedGen UID:
182
Concept ID:
C0001916
Congenital Abnormality
4.

Detected

The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617726
Concept ID:
C0442726
Finding
5.

Achromasia

An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). [from HPO]

MedGen UID:
569448
Concept ID:
C0333913
Cell or Molecular Dysfunction
6.

Premature chromatid separation trait

Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004). See also 158250 for a possible inherited predisposition to nondisjunction, which may be a related phenomenon. [from GTR]

MedGen UID:
400517
Concept ID:
C1864389
Disease or Syndrome
7.

Interferon

Human interferons have been classified into 3 groups: alpha, beta, and gamma. Both alpha- and beta-IFNs, previously designated type I, are acid-stable, but they differ immunologically and in regard to some biologic and physiochemical properties. The IFNs produced by virus-stimulated leukocytes (leukocyte IFNs) are predominantly of the alpha type. Those produced by lymphoblastoid cells are about 90% alpha and 10% beta. Induced fibroblasts produce mainly or exclusively the beta type. The alpha- and beta-IFNs differ widely in amino acid sequence. The gamma or immune IFNs, which are produced by T lymphocytes in response to mitogens or to antigens to which they are sensitized, are acid-labile and serologically distinct from alpha- and beta-IFNs. (from OMIM 147570) [from NCI]

MedGen UID:
196514
Concept ID:
C0733470
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
8.

Possible

Capable of happening or occurring. [from NCI]

MedGen UID:
137646
Concept ID:
C0332149
Finding
9.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
10.

Tyrosinase-positive oculocutaneous albinism

Oculocutaneous albinism type 2 (OCA2) is characterized by hypopigmentation of the skin and hair and the characteristic ocular changes found in all types of albinism, including nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerve fiber radiations at the chiasm, associated with strabismus, reduced stereoscopic vision, and altered visual evoked potentials (VEP). Individuals with OCA2 are usually recognized within the first three to six months of life because of the ocular features of visual inattention, nystagmus, and strabismus. Vision is stable to slowly improving after early childhood until mid- to late teens, and no major change or loss of established visual acuity occurs related to the albinism. The amount of cutaneous pigmentation in OCA2 ranges from minimal to near-normal compared to others of the same ethnic and family backgrounds. Newborns with OCA2 almost always have lightly pigmented hair, brows, and lashes, with color ranging from light yellow to blond to brown. Hair color may darken with age but does not vary substantially from adolescence to adulthood. Brown OCA, initially identified in Africans and African Americans with light brown hair and skin, is part of the spectrum of OCA2. [from GTR]

MedGen UID:
82810
Concept ID:
C0268495
Disease or Syndrome
11.

Neoplasm of the skin

A primary or metastatic tumor involving the skin. Primary malignant skin tumors most often are carcinomas (either basal cell or squamous cell carcinomas that arise from cells in the epidermis) or melanomas that arise from pigment-containing skin melanocytes. Metastatic tumors to the skin include carcinomas and lymphomas. [from NCI]

MedGen UID:
40101
Concept ID:
C0007114
Neoplastic Process
12.

Interferon

Proteins secreted by vertebrate cells in response to a wide variety of inducers. They confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions. [from MeSH]

MedGen UID:
5847
Concept ID:
C0021747
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
13.

Interferon gamma

Interferon gamma (166 aa, ~19 kDa) is encoded by the human IFNG gene. This protein is involved in antiviral activity, macrophage activation, antiproliferative activity and immunopotentiation. [from NCI]

MedGen UID:
5846
Concept ID:
C0021745
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
14.

Gene Regulatory Networks

Interacting DNA-encoded regulatory subsystems in the GENOME that coordinate input from activator and repressor TRANSCRIPTION FACTORS during development, cell differentiation, or in response to environmental cues. The networks function to ultimately specify expression of particular sets of GENES for specific conditions, times, or locations. [from MeSH]

MedGen UID:
354547
Concept ID:
C1720950
Molecular Function
15.

Metabolic Networks and Pathways

Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites. [from MeSH]

MedGen UID:
328456
Concept ID:
C1721099
Molecular Function
16.

Tyrosine

A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. [from MeSH]

MedGen UID:
21746
Concept ID:
C0041485
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
17.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
18.

Melanin pigmentation of eye

MedGen UID:
740369
Concept ID:
C1720571
Disease or Syndrome
19.

Disorder of skin color

MedGen UID:
725714
Concept ID:
C1304361
Disease or Syndrome
20.

Disorder of hair color

MedGen UID:
633892
Concept ID:
C0474377
Disease or Syndrome
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