Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

autosomal dominant optic atrophy

Synonyms

dominant optic atrophy

DOA

optic atrophy, autosomal dominant

ADOA

Definitions

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

ID

http://purl.obolibrary.org/obo/MONDO_0020250

database_cross_reference

SCTID:2065009

Orphanet:98672

MESH:D029241

NCIT:C84577

GARD:0011972

UMLS:C0338508

definition

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

exactMatch

http://identifiers.org/mesh/D029241

http://purl.obolibrary.org/obo/NCIT_C84577

http://purl.obolibrary.org/obo/Orphanet_98672

http://identifiers.org/snomedct/2065009

http://linkedlifedata.com/resource/umls/id/C0338508

has_exact_synonym

DOA

optic atrophy, autosomal dominant

ADOA

has_related_synonym

dominant optic atrophy

id

MONDO:0020250

in_subset

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

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

label

autosomal dominant optic atrophy

notation

MONDO:0020250

prefLabel

autosomal dominant optic atrophy

treeView

http://purl.obolibrary.org/obo/MONDO_0043878

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0020249

http://purl.obolibrary.org/obo/MONDO_0004884

subClassOf

http://purl.obolibrary.org/obo/MONDO_0043878

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0020249

http://purl.obolibrary.org/obo/MONDO_0004884

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http://purl.obolibrary.org/obo/MONDO_0020250 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0020250 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://www.orpha.net/ORDO/Orphanet_98672 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84577 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM