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Mondo Disease Ontology
Last uploaded:
December 3, 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 hypercalcemia, infantile 2 |
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| Definitions |
Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0014851 |
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| database_cross_reference |
OMIM:616963 GARD:18435 MEDGEN:934441 UMLS:C4310473
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|
| definition |
Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.
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| 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 hypercalcemia, infantile 2
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|
| id |
MONDO:0014851
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
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| label |
hypercalcemia, infantile, 2
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|
| notation |
MONDO:0014851
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| prefLabel |
hypercalcemia, infantile, 2
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| skos_exactMatch | ||
| treeView | ||
| subClassOf |
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