Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

CONOTRUNCAL HEART MALFORMATIONS
Synonyms

CAFS
ID

http://purl.bioontology.org/ontology/OMIM/217095
altLabel

CAFS

CONOTRUNCAL ANOMALY FACE SYNDROME

PERSISTENT TRUNCUS ARTERIOSUS

PTA

CTHM

DORV

INTERRUPTED AORTIC ARCH

TRUNCUS ARTERIOSUS COMMUNIS

DOUBLE-OUTLET RIGHT VENTRICLE
cui

C0795907

C0041207

C0152419

C0013069

C1857586
Gene Locus

8p21
Gene Symbol

CTHM

CSX2

NKX2-6
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

217095
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CONOTRUNCAL HEART MALFORMATIONS
tui

T047

T019
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D004062 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/Q25.21 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/C535464 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/787779000 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10059207 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q20.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D4-31400 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10059207 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10044703 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003024 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10059207 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/61959006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10044703 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10044703 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/61959006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D014339 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D014339 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/787779000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD9CM/745.0 ICD9CM CUI
http://purl.bioontology.org/ontology/RCD/XaC2P RCD CUI
http://purl.bioontology.org/ontology/ICD10/Q20.0 ICD10 CUI
http://purl.bioontology.org/ontology/RCD/P713. RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-32024 SNMI CUI
http://purl.bioontology.org/ontology/ICD9CM/747.11 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10022599 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/218728005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10022599 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10022599 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/218728005 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD9CM/745.11 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10013611 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/7484005 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000994 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D004310 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D004310 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/P511. RCD CUI
http://purl.bioontology.org/ontology/ICD10/Q20.1 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10013611 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/Q20.1 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D4-31030 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10013611 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/7484005 SNOMEDCT CUI
http://purl.obolibrary.org/obo/MONDO_0016581 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1026 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016581 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016581 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016581 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_2445 ORDO LOOM
http://identifiers.org/omim/217095 REXO LOOM
http://identifiers.org/omim/217095 GEXO LOOM
http://identifiers.org/omim/217095 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_217095 CCO LOOM