Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

optic atrophy 6

Synonyms

OPA6

Definitions

An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.

ID

http://purl.obolibrary.org/obo/DOID_0111435

database_cross_reference

OMIM:258500

MESH:C537127

definition

An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.

has exact synonym

OPA6

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0111435

label

optic atrophy 6

notation

DOID:0111435

prefLabel

optic atrophy 6

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_5723

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http://purl.bioontology.org/ontology/MESH/C537127 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/258500 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0009786 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009786 Experimental Factor Ontology / 实验性因素本体 LOOM