Hypocalciuric hypercalcemia

Disease Term Disease ID Gene Symbol Classification References Source
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA 1
MONDO:0007791
CASR Causal
10843194 23966241 26963950 34169121 7493018 7726161 8675635 9011580
ClinGen ClinVar GWAS catalog
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA 2
MONDO:0007792
GNA11 Causal
23802516 26729423 28194446
ClinVar GWAS catalog
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA 3
MONDO:0010926
AP2S1 Causal
23222959 24081735 25993639 26082470 28176280
ClinVar GWAS catalog
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 1
93372
CASR Unknown — Orphanet
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 2
101049
GNA11 Unknown
23802516
Orphanet
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3
101050
AP2S1 Unknown
23222959
Orphanet
HYPOCALCIURIA
C0020599
CASR Causal — Disgenet
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1
C0342637MESH:C537145
CASR Unknown
7916660
CTD Disgenet
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 2
C1840347MESH:C537146
GNA11 Unknown — CTD Disgenet
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I
145980
CASR Unknown — HPO
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II
145981
GNA11 Unknown — HPO
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
600740C1833372
AP2S1 Unknown — Disgenet HPO