Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	HYPERCALCEMIA, INFANTILE, 2
Synonyms	HCINF2
ID	http://purl.bioontology.org/ontology/OMIM/616963
altLabel	HCINF2
cui	C4310473
Gene Locus	5q35
Gene Symbol	SLC17A2 NPHLOP1 HCINF2 SLC34A1 NPT2 FRTS2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU011138 http://purl.bioontology.org/ontology/OMIM/MTHU003378 http://purl.bioontology.org/ontology/OMIM/MTHU055566 http://purl.bioontology.org/ontology/OMIM/MTHU005829 http://purl.bioontology.org/ontology/OMIM/MTHU055564 http://purl.bioontology.org/ontology/OMIM/MTHU006653 http://purl.bioontology.org/ontology/OMIM/MTHU070213 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU005834 http://purl.bioontology.org/ontology/OMIM/MTHU036717
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616963
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPERCALCEMIA, INFANTILE, 2
Scope Statement	All patients received vitamin D prophylaxis in infancy [MISCELLANEOUS] Caused by mutation in the solute carrier family 34 (type II sodium/phosphate cotransporter) member-1 gene (SLC34A1, 182309.0004) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C562999	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0014851	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0014851	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0014851	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0014851	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0014851	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0014851	KTAO	LOOM