Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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

DEL1q21.1

RBM8B

C1DELq21.1

TAR

RBM8A

Has manifestation

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU032648

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU009108

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU009107

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU009109

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

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

274000

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

tui

T019

Delete Subject Author Type Created
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Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536940 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_14699 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.2 International Classification of Diseases, Version 10 - Clinical Modification CUI