Preferred Name

aniridia

Synonyms

aplasia of iris

Definitions

Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).

ID

http://purl.obolibrary.org/obo/MONDO_0019172

closeMatch

http://identifiers.org/meddra/10002532

database_cross_reference

UMLS:C0003076

GARD:0005816

DOID:12271

SCTID:69278003

ICD9:743.45

MESH:D015783

MedDRA:10002532

Orphanet:77

NCIT:C84563

definition

Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).

exactMatch

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

http://linkedlifedata.com/resource/umls/id/C0003076

http://identifiers.org/mesh/D015783

http://purl.obolibrary.org/obo/NCIT_C84563

http://identifiers.org/snomedct/69278003

has_exact_synonym

aplasia of iris

id

MONDO:0019172

in_subset

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

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

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

label

aniridia

notation

MONDO:0019172

prefLabel

aniridia

see also

https://rarediseases.info.nih.gov/diseases/5816/aniridia

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020146

http://purl.obolibrary.org/obo/MONDO_0002289

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0019172 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 Mondo Disease Ontology / Mondo疾病本体 SAME_URI
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 Human Disease Ontology / 人类疾病本体 LOOM
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