Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

GRAY PLATELET SYNDROME
Synonyms

BDPLT4

BLEEDING DISORDER, PLATELET-TYPE, 4

PLATELET ALPHA-GRANULE DEFICIENCY

GPS

ID

http://purl.bioontology.org/ontology/OMIM/139090

altLabel

BDPLT4

BLEEDING DISORDER, PLATELET-TYPE, 4

PLATELET ALPHA-GRANULE DEFICIENCY

GPS

cui

C0272302

Gene Locus

3p22.1-p21.1

Gene Symbol

NBEAL2

BDPLT4

GPS

KIAA0540

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU018019

http://purl.bioontology.org/ontology/OMIM/MTHU026125

http://purl.bioontology.org/ontology/OMIM/MTHU018007

http://purl.bioontology.org/ontology/OMIM/MTHU030942

http://purl.bioontology.org/ontology/OMIM/MTHU018014

http://purl.bioontology.org/ontology/OMIM/MTHU009110

http://purl.bioontology.org/ontology/OMIM/MTHU018017

http://purl.bioontology.org/ontology/OMIM/MTHU000449

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU018020

http://purl.bioontology.org/ontology/OMIM/MTHU018011

http://purl.bioontology.org/ontology/OMIM/MTHU018012

http://purl.bioontology.org/ontology/OMIM/MTHU018015

http://purl.bioontology.org/ontology/OMIM/MTHU018022

http://purl.bioontology.org/ontology/OMIM/MTHU018013

http://purl.bioontology.org/ontology/OMIM/MTHU018008

http://purl.bioontology.org/ontology/OMIM/MTHU018009

http://purl.bioontology.org/ontology/OMIM/MTHU018016

http://purl.bioontology.org/ontology/OMIM/MTHU018021

http://purl.bioontology.org/ontology/OMIM/MTHU030944

http://purl.bioontology.org/ontology/OMIM/MTHU030943

http://purl.bioontology.org/ontology/OMIM/MTHU018006

http://purl.bioontology.org/ontology/OMIM/MTHU036809

http://purl.bioontology.org/ontology/OMIM/MTHU024199

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

139090

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

GRAY PLATELET SYNDROME

Scope Statement

Caused by mutation in the neurobeachin-like 2 gene (NBEAL2, 614169.0001). [MOLECULAR BASIS]

Onset of bleeding in infancy or early childhood [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]

tui

T047

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Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/D69.1 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/D055652 MESH CUI
http://purl.bioontology.org/ontology/RCD/X20F0 RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D055652 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/DC-61940 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/51720005 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181115 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/51720005 SNOMEDCT CUI
http://purl.obolibrary.org/obo/DOID_0111044 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007686 MONDO LOOM
http://purl.bioontology.org/ontology/MESH/D055652 MESH LOOM
http://purl.jp/bio/4/id/200906048170483854 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0272302 OCHV LOOM
http://identifiers.org/omim/139090 REXO LOOM
http://identifiers.org/omim/139090 GEXO LOOM
http://identifiers.org/omim/139090 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_139090 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D055652 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037342 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNMI/DC-61940 SNMI LOOM
http://purl.obolibrary.org/obo/MONDO_0007686 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007686 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007686 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.417 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0026406 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Gray_Platelet_Syndrome CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84741 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_8697 HRDO LOOM
http://www.limics.fr/ontologies/ontolurgences#ThrombopathieDesPlaquettesGrises ONTOLURGENCES LOOM
http://purl.obolibrary.org/obo/NCIT_C84741 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.140.427 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_721 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_0111044 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0111044 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111044 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0111044 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111044 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/51720005 SNOMEDCT LOOM