Preferred Name

Gray platelet syndrome

Synonyms

Thrombozyten-Alpha Granula-Mangel

Deficit dei granuli alfa delle piastrine

Grey platelet syndrome

ID

http://www.limics.org/hrdo/rdfns#pat_id_8697

ageOfDeath

No data available

Não há dados disponíveis

Nessun dato disponibile

Keine Daten verfügbar

No data available

No se dispone de datos

Non documenté

ageOfOnset

Kindesalter

Infanzia

Childhood

Infância

Infancia

Childhood

Enfance

altLabel

Thrombozyten-Alpha Granula-Mangel

Deficit dei granuli alfa delle piastrine

Grey platelet syndrome

Alpha storage pool deficiency

Deficit del pool di riserva dei granuli alfa

Syndrom der grauen Thrombozyten

Platelet alpha-granule deficiency

Déficit de gránulos alfa plaquetarios

Sindrome plaquetario gris

GPS

Alpha-Storage-Pool-Krankheit

GPS

GPS

Déficit de almacenamiento del pool de gránulos alfa

GPS

GPS

Alpha-Granula-Mangel der Plättchen

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Gray+platelet%5Btw%5D+NOT+GATA1

id_MeSH

D055652

id_MIM

139090

id_OMS

D69.1

id_Orpha

721

id_SNOMEDCT

51720005

id_UMLS

C0272302

inheritance

Autosómico recesivo

Autosomal recessive

Autossómica recessiva

Autosomica recessiva

Autosomal recessive

Autosomique récessif

Autosomal-rezessiv

patType

disease

prefixIRI

hrdo:pat_id_8697

prefLabel

Gray platelet syndrome

Síndrome de plaquetas grises

Síndrome de plaquetas cinzentas

Sindrome delle piastrine grigie

Gray-platelet-Syndrom

Syndrome des plaquettes grises

prevalence

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007686 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0111044 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007686 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0111044 DOID LOOM
http://purl.bioontology.org/ontology/MESH/D055652 MESH LOOM
http://purl.bioontology.org/ontology/OMIM/139090 OMIM 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 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.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 HHEAR 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