Disease or Syndrome
albinism
al·bi·nism [ al-buh-niz-uhm ]
Subclass of:
Amino Acid Metabolism, Inborn Errors;
Hypopigmentation disorder;
Eye Diseases, Hereditary;
Skin Diseases, Genetic
Definitions related to albinism:
-
A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin.NCI ThesaurusU.S. National Cancer Institute, 2021
-
A group of genetic conditions marked by little or none of the pigment melanin in the skin, hair, and/or eyes. People with albinism may have vision problems and white or yellow hair; reddish, violet, blue or brown eyes; and pale skin.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
-
A group of inherited conditions that typically appear as a reduction or absence of melanin pigments in the skin, hair, and eyes.Harvard Dictionary of Health TermsHarvard Medical Publishing, 2011
-
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
-
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.CRISP ThesaurusNational Institutes of Health, 2006
-
Oculocutaneous albinism is an inherited defect in melanin formation that causes diffuse hypopigmentation of the skin, hair, and eyes. Ocular albinism affects the eyes and usually not the skin. Ocular involvement causes strabismus, nystagmus, and decreased vision. Diagnosis of oculocutaneous albinism is usually obvious from the skin...Merck & Co., Inc., 2020
-
Oculocutaneous albinism is an inherited defect in melanin formation that causes diffuse hypopigmentation of the skin, hair, and eyes. Ocular albinism affects the eyes and usually not the skin. Ocular involvement causes strabismus, nystagmus, and decreased vision. Diagnosis of oculocutaneous albinism is usually obvious from the skin...Merck & Co., Inc., 2020
-
Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions.WebMD, 2019
-
The term albinism typically refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA) - a group of inherited disorders where there is little or no production of the pigment melanin. The type and amount of melanin your body produces determines the color of your skin, hair and eyes. Melanin also plays a role in the development of...Mayo Foundation for Medical Education and Research
-
Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Other symptoms can...National Center for Advancing Translational Sciences
-
Albinism, (from the Latin albus, meaning "white"), hereditary condition characterized by the absence of pigment in the eyes, skin, hair, scales, or feathers. Albino animals rarely survive in the wild because they lack the pigments that normally provide protective coloration and screen against the...Encyclopedia Britannica, Inc., 2020
Return to OpenMD Medical Dictionary
> A
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.