Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	Complete achromatopsia
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU013744
cui	C5201048
Manifestation of	http://purl.bioontology.org/ontology/OMIM/217080
notation	MTHU013744
prefLabel	Complete achromatopsia
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000020

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MEDDRA/10055511	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/789675009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/LNC/LA32596-1	LOINC	CUI
http://purl.bioontology.org/ontology/SCTSPA/789675009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10055511	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/F4853	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10055511	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/789675009	SNOMEDCT	LOOM