Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Hypercalcemia, Idiopathic, of Infancy
Synonyms
ID	http://purl.bioontology.org/ontology/MESH/C562581
cui	C0268080
HM	D007232 D006934 D008661
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D008661 http://purl.bioontology.org/ontology/MESH/D006934 http://purl.bioontology.org/ontology/MESH/D007232
MDA	20121105
MeSH Frequency	22
MMR	20160929
notation	C562581
prefLabel	Hypercalcemia, Idiopathic, of Infancy
SC	3
Scope Statement	Severe hypercalcemia characterized by failure to thrive, vomiting, dehydration, and NEPHROCALCINOSIS. It is caused by mutations in the CYP24A1 gene. OMIM: 143880
TERMUI	T827453
TH	OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/34225008	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/34225008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D6-34710	SNMI	CUI
http://purl.bioontology.org/ontology/OMIM/143880	OMIM	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562581	RH-MESH	LOOM