Regulation of Transcription Ontology

Last uploaded: December 4, 2018
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Preferred Name

Aniridia
Synonyms

AN
Definitions

(AN) - A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
ID

http://identifiers.org/omim/106210
altLabel

AN
definition

(AN) - A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
id

OMIM:106210
notation

OMIM:106210
prefLabel

Aniridia
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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http://identifiers.org/omim/106210 REXO SAME_URI
http://identifiers.org/omim/106210 GEXO SAME_URI
http://purl.obolibrary.org/obo/HP_0000526 OBA LOOM
http://purl.obolibrary.org/obo/HP_0000526 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 EFO LOOM
rgo:25949 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_12271 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12271 DOID LOOM
rgo:25949 GAMUTS LOOM
http://purl.obolibrary.org/obo/HP_0000526 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_1201001 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_12271 DOID LOOM
http://purl.obolibrary.org/obo/MP_0005261 MP LOOM
http://purl.obolibrary.org/obo/HP_0000526 MAXO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10002532 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0003076 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.384.079 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0000526 HP LOOM
http://purl.obolibrary.org/obo/HP_0000526 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0000526 KTAO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.060 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_12271 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12271 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12271 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12271 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12271 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12271 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Aniridia CSEO LOOM
http://www.ifomis.org/acgt/1.0#Aniridia ACGT-MO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1211 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019172 KTAO LOOM
http://purl.obolibrary.org/obo/NCIT_C84563 BERO LOOM
http://purl.bioontology.org/ontology/RCD/P343. RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84563 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU007655 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/D015783 MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_6018 HRDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-A0310 SNMI LOOM
http://purl.obolibrary.org/obo/OMIM_106210 CCO LOOM
http://purl.obolibrary.org/obo/MP_0005261 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0005261 CHIRO LOOM
http://purl.bioontology.org/ontology/LNC/LA24630-8 LOINC LOOM
http://purl.bioontology.org/ontology/ICD9CM/743.45 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/743.45 NLMVS LOOM
http://purl.obolibrary.org/obo/OMIT_0016423 OMIT LOOM
http://doe-generated-ontology.com/OntoAD#C0003076 ONTOAD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12271 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.250.060 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.078 RH-MESH LOOM
http://identifiers.org/omim/106210 REXO LOOM
http://identifiers.org/omim/106210 GEXO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D015783 RH-MESH LOOM
http://purl.jp/bio/4/id/200906046940580338 IOBC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085376 PMAPP-PMO LOOM
http://www.gamuts.net/entity#aniridia GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.941.375.060 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D015783 MDM LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0306 IFAR LOOM
http://purl.bioontology.org/ontology/RCTV2/P343.00 RCTV2 LOOM