Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

Leber congenital amaurosis
Synonyms
ID

http://purl.bioontology.org/ontology/OMIM/MTHU020281
cui

C0339527
Manifestation of

http://purl.bioontology.org/ontology/OMIM/609254

http://purl.bioontology.org/ontology/OMIM/614844

http://purl.bioontology.org/ontology/OMIM/614845

http://purl.bioontology.org/ontology/OMIM/606995
notation

MTHU020281
prefLabel

Leber congenital amaurosis
tui

T047
subClassOf

http://purl.bioontology.org/ontology/OMIM/MTHU000020
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http://purl.bioontology.org/ontology/RCD/F427J RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10070667 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D057130 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/1114-9698 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D057130 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181128 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10070667 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10070667 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/193413001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/193413001 SCTSPA CUI
http://purl.obolibrary.org/obo/MONDO_0018998 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.516 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14791 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14791 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14791 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14791 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14791 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14791 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14791 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_14791 FNS-H LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037133 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129075 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018998 DOVES LOOM
http://purl.jp/bio/4/id/200906035255009260 IOBC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3243 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D057130 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_65 ORDO LOOM
http://www.gamuts.net/entity#Leber_congenital_amaurosis GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.768.364 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14791 NATPRO LOOM
http://purl.obolibrary.org/obo/OMIT_0026867 OMIT LOOM
http://purl.obolibrary.org/obo/NCIT_C129075 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D057130 RH-MESH LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_1_2 HAMIDEHSGH LOOM