JSON

achromatopsia

Go to external page http://purl.obolibrary.org/obo/MONDO_0018852

Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. [ Orphanet:49382 ]

Synonyms: monochromatism Rod monochromatism complete or incomplete colour blindness Rod monochromacy complete or incomplete color blindness total colour blindness ACHM Pingelapese blindness achromatopsia total color blindness

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10CM:H53.51 (MONDO:equivalentTo)
  • MedDRA:10000454 (Orphanet:49382/e)
  • Orphanet:49382 (MONDO:equivalentTo)
  • UMLS:C0152200 (MONDO:equivalentTo)
  • SCTID:102450007 (MONDO:equivalentTo)
  • ICD9:368.54 (DOID:13911)
  • MEDGEN:57751 (MONDO:equivalentTo)
  • DOID:13911 (MONDO:equivalentTo)
  • GARD:15015 (MONDO:GARD)
  • NCIT:C84528 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, mondo_top_grouping_disorder_of_visual_system, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_psychiatric_disorder, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, harrisons_view_disorder_of_visual_system, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, icd10_billable, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_orbital_region

UK spelling synonym
complete or incomplete colour blindness

ClinGen label
achromatopsia [ NCIT:C84528 Orphanet:49382 ICD10CM:H53.51 DOID:13911 ]

UK spelling synonym
total colour blindness

abbreviation
ACHM [ DOID:13911 Orphanet:49382 ]

closeMatch

http://identifiers.org/meddra/10000454

comment

Editor note: we include incomplete forms here, such as BCM

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0018852

exactMatch

http://www.orpha.net/ORDO/Orphanet_49382

http://purl.bioontology.org/ontology/ICD10CM/H53.51

http://purl.obolibrary.org/obo/NCIT_C84528

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

http://identifiers.org/snomedct/102450007

http://identifiers.org/medgen/57751

http://linkedlifedata.com/resource/umls/id/C0152200

id

MONDO:0018852