familial primary hypomagnesemia with normocalcuria
http://purl.obolibrary.org/obo/MONDO_0017626
Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. [ Orphanet:306522 ]
Term info
- Orphanet:306522 (MONDO:equivalentObsolete)
- UMLS:CN227164 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.
http://linkedlifedata.com/resource/umls/id/CN227164
MONDO:0017626