Medical Subject Headings

Last uploaded: January 31, 2024

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	Choroideremia
Synonyms	Progressive Tapetochoroidal Dystrophies Tapetochoroidal Dystrophy, Progressive Choroideremias Dystrophies, Progressive Tapetochoroidal Progressive Tapetochoroidal Dystrophy Dystrophy, Progressive Tapetochoroidal Tapetochoroidal Dystrophies, Progressive
Definitions	An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.
ID	http://purl.bioontology.org/ontology/MESH/D015794
altLabel	Progressive Tapetochoroidal Dystrophies Tapetochoroidal Dystrophy, Progressive Choroideremias Dystrophies, Progressive Tapetochoroidal Progressive Tapetochoroidal Dystrophy Dystrophy, Progressive Tapetochoroidal Tapetochoroidal Dystrophies, Progressive
AN	of the eye, not of the choroid plexus: progressive degen in male, nonprogressive in female
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0008525
DC	1
definition	An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.
DX	19900101
FX	D009755
HN	90
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D009755
Machine permutation	90
Mapped from	http://purl.bioontology.org/ontology/MESH/C563129 http://purl.bioontology.org/ontology/MESH/C537793
MDA	19890525
MMR	20130708
MN	C16.320.290.142 C11.941.160.300 C16.320.322.092 C11.270.142
notation	D015794
prefLabel	Choroideremia
TERMUI	T811459 T834096 T046834
TH	OMIM (2013) NLM (1990) GHR (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D015785 http://purl.bioontology.org/ontology/MESH/D015862

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10008791	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10060361	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD10CM/H31.21	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/F4355	RCD	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003317	NDFRT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10008791	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D015794	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/75241009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD9CM/363.55	ICD9CM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10008791	MDRFRE	CUI
http://purl.bioontology.org/ontology/CSP/1114-9583	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10060361	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/DA-71330	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/75241009	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/303100	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10060361	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/300390	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU025517	OMIM	CUI
http://purl.obolibrary.org/obo/DOID_9821	DDSS	LOOM
rgo:34190	GAMUTS	LOOM
http://purl.obolibrary.org/obo/MONDO_0010557	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_9821	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_9821	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0010557	MONDO	LOOM
http://www.orpha.net/ORDO/Orphanet_180	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_921	HRDO	LOOM
http://purl.obolibrary.org/obo/HP_0001139	HP	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_4_1_1	HAMIDEHSGH	LOOM
http://purl.bioontology.org/ontology/ICD10CM/H31.21	NLMVS	LOOM
http://purl.bioontology.org/ontology/ICD10CM/H31.21	ICD10CM	LOOM
http://purl.bioontology.org/ontology/RCD/F4355	RCD	LOOM
http://purl.obolibrary.org/obo/OMIM_303100	CCO	LOOM
http://www.orpha.net/ORDO/Orphanet_180	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.941.160.300	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10008791	MEDDRA	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34469	NCIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D015794	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0016434	OMIT	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/75241009	SNOMEDCT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.142	RH-MESH	LOOM
http://purl.bioontology.org/ontology/ICD9CM/363.55	ICD9CM	LOOM
http://purl.bioontology.org/ontology/ICD9CM/363.55	NLMVS	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.092	RH-MESH	LOOM
http://purl.bioontology.org/ontology/SNMI/DA-71330	SNMI	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9821	NATPRO	LOOM
http://purl.obolibrary.org/obo/HP_0001139	UPHENO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010557	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.142	RH-MESH	LOOM
http://id.nlm.nih.gov/mesh/D015794	MDM	LOOM
http://purl.jp/bio/4/id/200906050409236360	IOBC	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Choroideremia	CSEO	LOOM
http://purl.bioontology.org/ontology/OMIM/303100	OMIM	LOOM
http://identifiers.org/omim/303100	REXO	LOOM
http://identifiers.org/omim/303100	GEXO	LOOM
http://identifiers.org/omim/303100	RETO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085370	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/NCIT_C34469	BERO	LOOM
http://purl.obolibrary.org/obo/DOID_9821	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_9821	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_9821	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_9821	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_9821	FNS-H	LOOM