Preferred Name

Autosomal Dominant Optic Atrophy

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84577

code

C84577

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

DEFINITION

An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.

FULL_SYN

Autosomal Dominant Optic Atrophy

label

Autosomal Dominant Optic Atrophy

Preferred_Name

Autosomal Dominant Optic Atrophy

prefixIRI

Thesaurus:C84577

prefLabel

Autosomal Dominant Optic Atrophy

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0338508

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34864

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0020250 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0020250 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_98672 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM