Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024

Preferred Name	autosomal recessive infantile hypercalcemia 1
Synonyms	HCINF1 hypercalcemia, infantile, 1
ID	http://purl.obolibrary.org/obo/MONDO_0020739
conformsTo	http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
database_cross_reference	UMLS:C0268080 OMIM:143880
disease has basis in dysfunction of	http://identifiers.org/hgnc/2602
exactMatch	http://linkedlifedata.com/resource/umls/id/C0268080 http://identifiers.org/omim/143880
has related synonym	HCINF1 hypercalcemia, infantile, 1
id	MONDO:0020739
imported from	http://purl.obolibrary.org/obo/mondo.owl
label	autosomal recessive infantile hypercalcemia 1
notation	MONDO:0020739
prefLabel	autosomal recessive infantile hypercalcemia 1
subClassOf	http://purl.obolibrary.org/obo/MONDO_0007749

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0020739	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020739	DOVES	SAME_URI