Human Phenotype Ontology

Last uploaded: February 24, 2022
Preferred Name

Leber optic atrophy

Synonyms

Leber optic degeneration

Leber optic atrophy features

Definitions

Degeneration of retinal ganglion cells and their axons.

ID

http://purl.obolibrary.org/obo/HP_0001112

database_cross_reference

UMLS:C0917796

MSH:D029242

SNOMEDCT_US:58610003

definition

Degeneration of retinal ganglion cells and their axons.

has_alternative_id

HP:0001086

has_exact_synonym

Leber optic degeneration

Leber optic atrophy features

has_obo_namespace

human_phenotype

id

HP:0001112

label

Leber optic atrophy

notation

HP:0001112

prefLabel

Leber optic atrophy

treeView

http://purl.obolibrary.org/obo/HP_0000587

subClassOf

http://purl.obolibrary.org/obo/HP_0000587

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http://purl.bioontology.org/ontology/OMIM/535000 Online Mendelian Inheritance in Man LOOM