Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

achromatopsia

Synonyms

Monochromatism

Definitions

A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.

ID

http://purl.obolibrary.org/obo/DOID_13911

database_cross_reference

ICD10CM:H53.51

ICD9CM:368.54

UMLS_CUI:C0152200

ORDO:49382

NCI:C84528

SNOMEDCT_US_2022_09_01:56852002

MESH:D003117

definition

A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.

has exact synonym

Monochromatism

ACHM

has_obo_namespace

disease_ontology

id

DOID:13911

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

achromatopsia

notation

DOID:13911

prefLabel

achromatopsia

subClassOf

http://purl.obolibrary.org/obo/DOID_13399

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