Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

hypercalcemia, infantile, 2
Synonyms

hypercalcemia, infantile 2

hypercalcemia, infantile, type 2

hypercalcemia, infantile, 2

SLC34A1 autosomal recessive infantile hypercalcemia

autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1

HCINF2
Definitions

Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.
ID

http://purl.obolibrary.org/obo/MONDO_0014851
database_cross_reference

OMIM:616963

UMLS:C4310473

MEDGEN:934441

GARD:18435
definition

Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.
has_exact_synonym

hypercalcemia, infantile 2

hypercalcemia, infantile, type 2

hypercalcemia, infantile, 2

SLC34A1 autosomal recessive infantile hypercalcemia

autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1

HCINF2
id

MONDO:0014851
in_subset

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

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

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

hypercalcemia, infantile, 2
notation

MONDO:0014851
preferred label

hypercalcemia, infantile, 2
prefLabel

hypercalcemia, infantile, 2
skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C4310473

https://omim.org/entry/616963

http://identifiers.org/medgen/934441
subClassOf

http://purl.obolibrary.org/obo/MONDO_0000212
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