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Mondo Disease Ontology
| Preferred Name | hypercalcemia, infantile | |
| Synonyms |
hypercalcemia, infantile hypercalcemia, idiopathic, of infancy familial infantile hypercalcemia with suppressed intact parathyroid hormone infantile hypercalcemia disease hypercalcemia disease of infancy idiopathic infantile hypercalcemia infantile hypercalcemia hypercalcemia, infantile, autosomal recessive autosomal recessive hypercalcemia, infantile autosomal recessive infantile hypercalcemia infantile onset hypercalcemia disease |
|
| Definitions |
A hypercalcemia disease that occurs between 28 days to one year of life. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0000212 |
|
| database_cross_reference |
OMIMPS:143880 UMLS:C4329374 SCTID:34225008 GARD:17374 MEDGEN:1380840 Orphanet:300547 SCTID:276645004 MESH:C562999 NCIT:C129734
|
|
| definition |
A hypercalcemia disease that occurs between 28 days to one year of life.
|
|
| has_exact_synonym |
hypercalcemia, infantile hypercalcemia, idiopathic, of infancy familial infantile hypercalcemia with suppressed intact parathyroid hormone infantile hypercalcemia disease hypercalcemia disease of infancy idiopathic infantile hypercalcemia infantile hypercalcemia hypercalcemia, infantile, autosomal recessive autosomal recessive hypercalcemia, infantile autosomal recessive infantile hypercalcemia infantile onset hypercalcemia disease
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| IAO_0000233 | ||
| id |
MONDO:0000212
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#prototype_pattern |
|
| label |
hypercalcemia, infantile
|
|
| notation |
MONDO:0000212
|
|
| prefLabel |
hypercalcemia, infantile
|
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_exactMatch |
http://identifiers.org/medgen/1380840 http://identifiers.org/snomedct/34225008 http://purl.obolibrary.org/obo/Orphanet_300547 http://purl.obolibrary.org/obo/NCIT_C129734 http://linkedlifedata.com/resource/umls/id/C4329374 https://omim.org/phenotypicSeries/PS143880 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0001566 |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0001566 |
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