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Items: 17

1.

enzyme activity

Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [ISBN:0198506732] [from GO]

MedGen UID:
66218
Concept ID:
C0243102
Molecular Function
2.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
3.

Skin pigmentation

MedGen UID:
693490
Concept ID:
C1269684
Finding
4.

Fair Skin

A human skin color characterized by low levels of eumelanin. [from NCI]

MedGen UID:
347669
Concept ID:
C1858570
Finding
5.

Generalized hypopigmentation

MedGen UID:
340426
Concept ID:
C1849923
Finding
6.

Positive

A presence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure.  [from HL7]

MedGen UID:
254858
Concept ID:
C1446409
Finding
7.

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 GeneReviews]

MedGen UID:
82810
Concept ID:
C0268495
Disease or Syndrome
8.

Red hair

MedGen UID:
66796
Concept ID:
C0239803
Finding
9.

Physical Appearance, Body

The superficial physical looks, characteristics or qualities of an individual as distinguished from the underlying unseen nature or attributes. [from MeSH]

MedGen UID:
852751
Concept ID:
C0750731
Sign or Symptom
10.

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
11.

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
12.

Melanin pigmentation of eye

MedGen UID:
740369
Concept ID:
C1720571
Disease or Syndrome
13.

Skin normal color

MedGen UID:
635999
Concept ID:
C0518760
Finding
14.

Variation in hair color

MedGen UID:
510409
Concept ID:
C0157734
Finding
15.

Melanin Pigment Present

MedGen UID:
362084
Concept ID:
C1881766
Finding
16.

Fair hair

A lesser degree of hair pigmentation than would otherwise be expected. [from HPO]

MedGen UID:
116090
Concept ID:
C0239801
Finding
17.

Heterochromia iridis

Heterochromia iridis is a difference in the color of the iris in the two eyes. [from HPO]

MedGen UID:
98395
Concept ID:
C0423318
Finding
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