Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

hereditary hyperparathyroidism
Synonyms

genetic hyperparathyroidism
Definitions

An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual.
ID

http://purl.obolibrary.org/obo/MONDO_0016166
database_cross_reference

UMLS:C5680826

Orphanet:208596

OMIMPS:145000

MEDGEN:1843372

GARD:20408
definition

An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual.
has_exact_synonym

genetic hyperparathyroidism
IAO_0000233

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

MONDO:0016166
in_subset

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

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

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

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

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

hereditary hyperparathyroidism
notation

MONDO:0016166
preferred label

hereditary hyperparathyroidism
prefLabel

hereditary hyperparathyroidism
skos_exactMatch

https://omim.org/phenotypicSeries/PS145000

http://linkedlifedata.com/resource/umls/id/C5680826

http://identifiers.org/medgen/1843372

http://purl.obolibrary.org/obo/Orphanet_208596
subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://www.ebi.ac.uk/efo/EFO_0008506
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