familial hypocalciuric hypercalcemia 1
familial hypocalciuric hypercalcemia that has material basis in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21
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familial hypocalciuric hypercalcemia 1
Summary
familial hypocalciuric hypercalcemia 1 is a class of disease[1].
Key Facts
- familial hypocalciuric hypercalcemia 1's instance of is recorded as class of disease[2].
- familial hypocalciuric hypercalcemia 1's subclass of is recorded as familial hypocalciuric hypercalcemia[3].
- familial hypocalciuric hypercalcemia 1's subclass of is recorded as genetic disease[4].
- familial hypocalciuric hypercalcemia 1's MeSH descriptor ID is recorded as C537145[5].
- familial hypocalciuric hypercalcemia 1's OMIM ID is recorded as 145980[6].
- familial hypocalciuric hypercalcemia 1's Disease Ontology ID is recorded as DOID:0060700[7].
- familial hypocalciuric hypercalcemia 1's Orphanet ID is recorded as 93372[8].
- familial hypocalciuric hypercalcemia 1's genetic association is recorded as CASR[9].
- familial hypocalciuric hypercalcemia 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060700[10].
- familial hypocalciuric hypercalcemia 1's exact match is recorded as http://identifiers.org/doid/DOID:0060700[11].
- familial hypocalciuric hypercalcemia 1's UMLS CUI is recorded as C0342637[12].
- familial hypocalciuric hypercalcemia 1's ICD-10-CM is recorded as E83.5[13].
- familial hypocalciuric hypercalcemia 1's GARD rare disease ID is recorded as 2796[14].
- familial hypocalciuric hypercalcemia 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- familial hypocalciuric hypercalcemia 1's Mondo ID is recorded as MONDO_0007791[16].
- familial hypocalciuric hypercalcemia 1's UniProt disease ID is recorded as DI-01588[17].