Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

albinism

Synonyms

albinism

Definitions

A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. This groups multiple types, including those restricted to the eyes, the skin or both

ID

http://purl.obolibrary.org/obo/MONDO_0043209

comment

This groups multiple types, including those restricted to the eyes, the skin or both

database_cross_reference

NCIT:C84543

MESH:D000417

SCTID:15890002

UMLS:C0001916

GARD:0005768

ICD10CM:E70.3

definition

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

exactMatch

http://identifiers.org/mesh/D000417

http://identifiers.org/snomedct/15890002

http://purl.obolibrary.org/obo/NCIT_C84543

http://purl.bioontology.org/ontology/ICD10CM/E70.3

http://linkedlifedata.com/resource/umls/id/C0001916

has_exact_synonym

albinism

id

MONDO:0043209

in_subset

http://purl.obolibrary.org/obo/mondo#gard_rare

label

albinism

notation

MONDO:0043209

prefLabel

albinism

treeView

http://purl.obolibrary.org/obo/MONDO_0004736

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0024255

subClassOf

http://purl.obolibrary.org/obo/MONDO_0004736

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http://purl.obolibrary.org/obo/HP_0001022 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/HP_0001022 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0043209 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0043209 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/MESH/D000417 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/ICD10/E70.3 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037234 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84543 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.3 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM