Mondo Disease Ontology

Last uploaded: November 25, 2024
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Preferred Name

syndromic constitutional thrombocytopenia
Synonyms

syndromic constitutional thrombocytopenia
ID

http://purl.obolibrary.org/obo/MONDO_0018795
curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0018795
database_cross_reference

MEDGEN:1843101

Orphanet:477794

UMLS:C5681257

GARD:21967
has_exact_synonym

syndromic constitutional thrombocytopenia
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5518

https://github.com/monarch-initiative/mondo/issues/5114
id

MONDO:0018795
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare
label

syndromic constitutional thrombocytopenia
notation

MONDO:0018795
prefLabel

syndromic constitutional thrombocytopenia
skos_exactMatch

http://identifiers.org/medgen/1843101

http://linkedlifedata.com/resource/umls/id/C5681257

http://purl.obolibrary.org/obo/Orphanet_477794
treeView

http://purl.obolibrary.org/obo/MONDO_0100241
subClassOf

http://purl.obolibrary.org/obo/MONDO_0100241
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