Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Synonyms

CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB
ID

http://purl.bioontology.org/ontology/OMIM/274000
altLabel

CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB

TAR

TAR SYNDROME
cui

C0175703
Gene Locus

1q12
Gene Symbol

RBM8A

DEL1q21.1

TAR

C1DELq21.1

RBM8B
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU067926

http://purl.bioontology.org/ontology/OMIM/MTHU000829

http://purl.bioontology.org/ontology/OMIM/MTHU009084

http://purl.bioontology.org/ontology/OMIM/MTHU003459

http://purl.bioontology.org/ontology/OMIM/MTHU042188

http://purl.bioontology.org/ontology/OMIM/MTHU009098

http://purl.bioontology.org/ontology/OMIM/MTHU009101

http://purl.bioontology.org/ontology/OMIM/MTHU022912

http://purl.bioontology.org/ontology/OMIM/MTHU009094

http://purl.bioontology.org/ontology/OMIM/MTHU005288

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU009089

http://purl.bioontology.org/ontology/OMIM/MTHU022910

http://purl.bioontology.org/ontology/OMIM/MTHU022913

http://purl.bioontology.org/ontology/OMIM/MTHU009087

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU009091

http://purl.bioontology.org/ontology/OMIM/MTHU009083

http://purl.bioontology.org/ontology/OMIM/MTHU001684

http://purl.bioontology.org/ontology/OMIM/MTHU007928

http://purl.bioontology.org/ontology/OMIM/MTHU005530

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU004589

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU009090

http://purl.bioontology.org/ontology/OMIM/MTHU009095

http://purl.bioontology.org/ontology/OMIM/MTHU009092

http://purl.bioontology.org/ontology/OMIM/MTHU009082

http://purl.bioontology.org/ontology/OMIM/MTHU009097

http://purl.bioontology.org/ontology/OMIM/MTHU007975

http://purl.bioontology.org/ontology/OMIM/MTHU007909

http://purl.bioontology.org/ontology/OMIM/MTHU042187

http://purl.bioontology.org/ontology/OMIM/MTHU009104

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU009081

http://purl.bioontology.org/ontology/OMIM/MTHU036913

http://purl.bioontology.org/ontology/OMIM/MTHU022911

http://purl.bioontology.org/ontology/OMIM/MTHU009093

http://purl.bioontology.org/ontology/OMIM/MTHU036440

http://purl.bioontology.org/ontology/OMIM/MTHU004003

http://purl.bioontology.org/ontology/OMIM/MTHU009102

http://purl.bioontology.org/ontology/OMIM/MTHU009086

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU009096

http://purl.bioontology.org/ontology/OMIM/MTHU004968

http://purl.bioontology.org/ontology/OMIM/MTHU009088

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU002606
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

274000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Scope Statement

Caused by mutation in the RNA-binding motif protein 8A gene (RBM8A, 605313.0001) [MOLECULAR BASIS]

Severity of hematologic disorder decreases with advancing age [MISCELLANEOUS]

Approximately 40% of patients die within newborn period [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10071719 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/85589009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00908 SNMI CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000285979 PDQ CUI
http://purl.bioontology.org/ontology/SCTSPA/85589009 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.2 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10071719 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10071720 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/D3132 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10071720 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10071719 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10071720 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C536940 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0010121 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010121 EFO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Thrombocytopenia-Absent_Radius_Syndrome CSEO LOOM
http://www.gamuts.net/entity#thrombocytopenia_absent_radius_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000285979 PDQ LOOM
http://purl.obolibrary.org/obo/DOID_14699 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14699 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14699 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14699 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14699 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14699 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071719 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0010121 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_3320 ORDO LOOM