Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

hypercalcemia, infantile 2
Synonyms

hypercalcemia, infantile, type 2

hypercalcemia, infantile, 2

HCINF2

autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1

SLC34A1 autosomal recessive infantile hypercalcemia
Definitions

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

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

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
database_cross_reference

OMIM:616963

UMLS:CN774236

UMLS:CN847585

UMLS:CN262351

UMLS:C4310473
disease has basis in dysfunction of

http://identifiers.org/hgnc/11019
exactMatch

http://linkedlifedata.com/resource/umls/id/CN847585

http://linkedlifedata.com/resource/umls/id/CN262351

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

http://identifiers.org/omim/616963

http://linkedlifedata.com/resource/umls/id/CN774236
has exact synonym

hypercalcemia, infantile, type 2

hypercalcemia, infantile, 2

HCINF2

autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1

SLC34A1 autosomal recessive infantile hypercalcemia
id

MONDO:0014851
imported from

http://purl.obolibrary.org/obo/mondo.owl
label

hypercalcemia, infantile 2
notation

MONDO:0014851
prefLabel

hypercalcemia, infantile 2
textual definition

Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0007749
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