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Medical Subject Headings
Last uploaded:
August 28, 2024
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| Preferred Name | Hypercalcemia, Infantile | |
| Synonyms |
Hypercalcemia, Infantile, 1 Hypercalcemia, infantile, 2 |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C562999 |
|
| altLabel |
Hypercalcemia, Infantile, 1 Hypercalcemia, infantile, 2
|
|
| cui |
C0475732 C4310473 C4310232
|
|
| HM |
D006934
|
|
| Inverse of RB |
0
|
|
| Mapped to | ||
| MDA |
20121105
|
|
| MeSH Frequency |
28
|
|
| MMR |
20160929
|
|
| notation |
C562999
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|
| prefLabel |
Hypercalcemia, Infantile
|
|
| SC |
3
|
|
| Scope Statement |
Severe hypercalcemia that occurs in infancy and is characterized by elevated calcium levels in blood and urine, failure to thrive, vomiting , dehydration, and NEPHROCALCINOSIS. HCINF1 is caused by mutations in the CYP24A1 gene (OMIM: 143880) and HCINF2 is caused by mutations in the SLC34A1 gene (OMIM: 616963).
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|
| TERMUI |
T801978 T000905919 T000905921
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|
| TH |
OMIM (2013) OMIM (2016)
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|
| tui |
T047 T033
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