Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

CHOROIDEREMIA
Synonyms

TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE

TCD

CHM

CHOROIDAL SCLEROSIS
ID

http://purl.bioontology.org/ontology/OMIM/303100
altLabel

TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE

TCD

CHM

CHOROIDAL SCLEROSIS
cui

C0344297

C0008525
Gene Locus

Xq21.2
Gene Symbol

TCD

CHM
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006953

http://purl.bioontology.org/ontology/OMIM/MTHU025524

http://purl.bioontology.org/ontology/OMIM/MTHU025522

http://purl.bioontology.org/ontology/OMIM/MTHU032919

http://purl.bioontology.org/ontology/OMIM/MTHU049640

http://purl.bioontology.org/ontology/OMIM/MTHU025520

http://purl.bioontology.org/ontology/OMIM/MTHU025521

http://purl.bioontology.org/ontology/OMIM/MTHU025523

http://purl.bioontology.org/ontology/OMIM/MTHU025517
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

303100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CHOROIDEREMIA
Scope Statement

Caused by mutation in the CHM Rab escort protein gene (CHM, 300390.0001) [MOLECULAR BASIS]

Carrier females show a distinct flecked autofluorescence pattern [MISCELLANEOUS]

Onset in second to third decade [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10008791 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10008781 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10052486 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C535358 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/406446000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10/H31.1 ICD10 CUI
http://purl.bioontology.org/ontology/MDRFRE/10052486 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10008781 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/363.40 ICD9CM CUI
http://purl.bioontology.org/ontology/RCD/X75nt RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10008781 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/247199007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/247199007 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/406446000 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/H31.1 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/H31.10 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10052486 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/F434. RCD CUI
http://purl.bioontology.org/ontology/ICD9CM/363.4 ICD9CM CUI
http://purl.bioontology.org/ontology/SNMI/DA-71240 SNMI 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/MESH/D015794 MESH 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/MEDDRA/10060361 MEDDRA 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.bioontology.org/ontology/MESH/D015794 MESH 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://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