National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Albinism

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84543

ALT_DEFINITION

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.

code

C84543

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

DEFINITION

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

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97174

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101

label

Albinism

NICHD_Hierarchy_Term

Albinism

Preferred_Name

Albinism

prefixIRI

C84543

prefLabel

Albinism

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0001916

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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http://purl.obolibrary.org/obo/HP_0001022 Human Phenotype Ontology LOOM
http://purl.obolibrary.org/obo/HP_0001022 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D000417 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10/E70.3 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037234 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.3 International Classification of Diseases, Version 10 - Clinical Modification LOOM