Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

aniridia

Synonyms

Aplasia of iris

Definitions

OMIM mapping confirmed by DO. [SN]. An iris disease that is characterized by a complete or partial absence of the colored part of the eye.

ID

http://purl.obolibrary.org/obo/DOID_12271

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD9CM:743.45

SNOMEDCT_US_2022_09_01:69278003

NCI:C84563

ICD10CM:Q13.1

OMIM:106210

GARD:5816

UMLS_CUI:C0003076

MESH:D015783

definition

An iris disease that is characterized by a complete or partial absence of the colored part of the eye.

has exact synonym

Aplasia of iris

has_obo_namespace

disease_ontology

id

DOID:12271

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

aniridia

notation

DOID:12271

prefLabel

aniridia

subClassOf

http://purl.obolibrary.org/obo/DOID_240

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http://purl.obolibrary.org/obo/MONDO_0019172 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_12271 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_12271 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.bioontology.org/ontology/LNC/LA24630-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.obolibrary.org/obo/HP_0000526 Human Phenotype Ontology / 人类表型本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84563 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA11.3 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/MESH/D015783 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU007655 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM