Regulation of Transcription Ontology

Last uploaded: December 4, 2018

Preferred Name	Familial isolated hyperparathyroidism
Synonyms	FIHP
Definitions	(FIHP) - Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.
ID	http://identifiers.org/omim/145000
altLabel	FIHP
definition	(FIHP) - Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.
id	OMIM:145000
notation	OMIM:145000
prefLabel	Familial isolated hyperparathyroidism
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/145000	REXO	SAME_URI
http://identifiers.org/omim/145000	GEXO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015027	MONDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/786037006	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080773	MEDDRA	LOOM
http://purl.obolibrary.org/obo/OMIM_145000	CCO	LOOM
http://purl.obolibrary.org/obo/NCIT_C94830	BERO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_14452	HRDO	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000725385	PDQ	LOOM
http://www.orpha.net/ORDO/Orphanet_99879	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015027	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0015027	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015027	DOVES	LOOM
http://identifiers.org/omim/145000	REXO	LOOM
http://identifiers.org/omim/145000	GEXO	LOOM